GROWTH

MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 13, BARAITSER-WINTER SYNDROME 1, IMMUNODEFICIENCY 15, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, THANATOPHORIC DYSPLASIA, TYPE II, ?NARCOLEPSY 1, ?LICHTENSTEIN-KNORR SYNDROME, DIABETES INSIPIDUS, NEPHROGENIC, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, MULTIPLE SULFATASE DEFICIENCY, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, OTOPALATODIGITAL SYNDROME, TYPE II, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ACHONDROPLASIA, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, THANATOPHORIC DYSPLASIA, TYPE I, MENTAL RETARDATION, X-LINKED 102, METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9, DONNAI-BARROW SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, CEREBRAL DYSGENESIS, NEUROPATHY, ICHTHYOSIS, AND PALMOPLANTAR KERATODERMA SYNDROME, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, MULTIPLE ENDOCRINE NEOPLASIA IIB, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, CEREBROCOSTOMANDIBULAR SYNDROME, MELNICK-NEEDLES SYNDROME, ?OSTEOGENESIS IMPERFECTA, TYPE X, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES, NETHERTON SYNDROME, HYPERCALCEMIA, INFANTILE, CARDIOFACIOCUTANEOUS SYNDROME, CEREBRAL AMYLOID ANGIOPATHY, PRNP-RELATED, GERSTMANN-STRAUSSLER DISEASE, ARTHROGRYPOSIS, DISTAL, TYPE 8, CAMURATI-ENGELMANN DISEASE, HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT, METATROPIC DYSPLASIA, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1, LEOPARD SYNDROME 3, LYMPHEDEMA, HEREDITARY, III, HYPOPHOSPHATASIA, INFANTILE, BARDET-BIEDL SYNDROME 3, CHONDRODYSPLASIA PUNCTATA, X-LINKED RECESSIVE, OSTEOSCLEROSIS, HYPEROSTOSIS, ENDOSTEAL, KLEEFSTRA SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, STORMORKEN SYNDROME, LOEYS-DIETZ SYNDROME 2, OSTEOGENESIS IMPERFECTA, TYPE VIII, EXOSTOSES, MULTIPLE, TYPE 1, PSEUDOHYPOPARATHYROIDISM IC, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, PSEUDOPSEUDOHYPOPARATHYROIDISM, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, RUBINSTEIN-TAYBI SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23, MASA SYNDROME, CRASH SYNDROME, ?IMMUNODEFICIENCY 22, SADDAN, INSOMNIA, FATAL FAMILIAL, CORNELIA DE LANGE SYNDROME 1, FANCONI ANEMIA, COMPLEMENTATION GROUP C, ATAXIA-TELANGIECTASIA, MEND SYNDROME, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C, OSTEOGENESIS IMPERFECTA, TYPE IV, ARTHYRGRYPOSIS, DISTAL, TYPE 2B, ARTHROGRYPOSIS, DISTAL, TYPE 2B, ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 2B, DIABETES MELLITUS, TRANSIENT NEONATAL, 3, OSTEOGENESIS IMPERFECTA, TYPE III, NEUROPATHY, HEREDITARY SENSORY, TYPE IIC, DESMOSTEROLOSIS, INCONTINENTIA PIGMENTI, LEPRECHAUNISM, HAJDU-CHENEY SYNDROME, METAPHYSEAL CHONDRODYSPLASIA, MURK JANSEN TYPE, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), GLUCOSE-6-PHOSPHATE TRANSPORT DEFECT, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, RITSCHER-SCHINZEL SYNDROME 1, OCULOECTODERMAL SYNDROME, ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, METHEMOGLOBINEMIA, TYPE II, METHEMOGLOBINEMIA, TYPE I, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE ID, CRANIOFRONTONASAL DYSPLASIA, PYRUVATE KINASE DEFICIENCY, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, CK SYNDROME, {METABOLIC SYNDROME, PROTECTION AGAINST}, CATSHL SYNDROME, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, BRUCK SYNDROME 2, YUNIS-VARON SYNDROME, SHORT SYNDROME, ANGELMAN SYNDROME, FANCONI RENOTUBULAR SYNDROME 2, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3, WITH RENAL TUBULAR ACIDOSIS, DIAMOND-BLACKFAN ANEMIA 6, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, COFFIN-SIRIS SYNDROME 3, PSEUDOHYPOALDOSTERONISM, TYPE I, APPARENT MINERALOCORTICOID EXCESS, ACETYL-COA CARBOXYLASE DEFICIENCY, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, ASPARTYLGLUCOSAMINURIA, IMMUNODEFICIENCY 19, ARTHROGRYPOSIS, DISTAL, TYPE 2A, EIKEN SYNDROME, CITRULLINEMIA, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 1, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IK, DEAFNESS, DYSTONIA, AND CEREBRAL HYPOMYELINATION, WOLFRAM SYNDROME, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IF, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, GALACTOSIALIDOSIS, RABSON-MENDENHALL SYNDROME, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, ROBINOW SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE II, SMITH-LEMLI-OPITZ SYNDROME, PSEUDOHYPOPARATHYROIDISM IA, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY, MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE, LYSYL HYDROXYLASE 3 DEFICIENCY, OSTEOGENESIS IMPERFECTA, TYPE I, NEPHRONOPHTHISIS 1, JUVENILE, IMMUNODEFICIENCY 12, PARKINSON DISEASE 4, COLE-CARPENTER SYNDROME 1, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, EVEN-PLUS SYNDROME, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1, ?BARDET-BIEDL SYNDROME 11, NOONAN SYNDROME 4, ?ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS AND DIABETES MELLITUS, SKIN FRAGILITY-WOOLLY HAIR SYNDROME, CORNELIA DE LANGE SYNDROME 4, TRIFUNCTIONAL PROTEIN DEFICIENCY, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, OTOPALATODIGITAL SYNDROME, TYPE I, MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS, OSTEOGENESIS IMPERFECTA, TYPE IX, NEPHROTIC SYNDROME, TYPE 1, BRACHYDACTYLY, TYPE E2, CEREBELLAR HYPOPLASIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDAL LOCOMOTION 1, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, NOONAN SYNDROME 10, ?FANCONI RENOTUBULAR SYNDROME 3, ALAGILLE SYNDROME, WIEDEMANN-STEINER SYNDROME, TARSAL-CARPAL COALITION SYNDROME, NIEMANN-PICK DISEASE, TYPE A, PEROXISOME BIOGENESIS DISORDER 8B, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBL E TYPE, THYROTROPIN-RELEASING HORMONE DEFICIENCY, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, MACROCEPHALY/AUTISM SYNDROME, MUENKE SYNDROME, MARINESCO-SJOGREN SYNDROME, RENAL TUBULAR ACIDOSIS, DISTAL, AR, LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, HYPERPARATHYROIDISM, NEONATAL, ANDERSEN SYNDROME, GLYCOGEN STORAGE DISEASE IC, NICOLAIDES-BARAITSER SYNDROME, ?CHARGE SYNDROME, CHARGE SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE VII, CHILD SYNDROME, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MILD VARIANT, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY, PARASTREMMATIC DWARFISM, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, CHYLOMICRON RETENTION DISEASE, CRANIOLENTICULOSUTURAL DYSPLASIA, HYPERTHYROIDISM, NONAUTOIMMUNE, RENAL TUBULAR ACIDOSIS, DISTAL, AD, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE, MEIER-GORLIN SYNDROME 4, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, HYPOCHONDROPLASIA, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, LOEYS-DIETZ SYNDROME 1, ?PRECOCIOUS PUBERTY, CENTRAL, 1, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, KOSAKI OVERGROWTH SYNDROME, HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC, ?MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, TRICHOHEPATOENTERIC SYNDROME 2, WHITE-SUTTON SYNDROME, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, SESAME SYNDROME, 46XY SEX REVERSAL 6, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, WOLCOTT-RALLISON SYNDROME, BRACHYOLMIA TYPE 3, NEUROFIBROMATOSIS-NOONAN SYNDROME, DIABETES INSIPIDUS, NEPHROGENIC, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, DURSUN SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 4, AUTOSOMAL RECESSIVE, 3-METHYLGLUTACONIC ACIDURIA WITH DEAFNESS, ENCEPHALOPATHY, AND LEIGH-LIKE SYNDROME, HYPOTHYROIDISM, CENTRAL, AND TESTICULAR ENLARGEMENT, HYPOPHOSPHATASIA, CHILDHOOD, LETHAL CONGENITAL CONTRACTURAL SYNDROME 3, WATSON SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IT, ABCD SYNDROME, GLUCOCORTICOID DEFICIENCY, DUE TO ACTH UNRESPONSIVENESS, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 13, NOONAN SYNDROME 7, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15, ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 53, {?OBESITY, SUSCEPTIBILITY TO, BMIQ18}, ?NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI, MENKES DISEASE, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, MYHRE SYNDROME, SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B-CELL/NATURAL KILLER-CELL POSITIVE, SEVERE COMBINED IMMUNODEFICIENCY, T-CELL NEGATIVE, B-CELL/NATURAL KILLER CELL-POSITIVE TYPE, CHONDRODYSPLASIA PUNCTATA, X-LINKED DOMINANT, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2, IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY, METHYLMALONIC ACIDURIA, MUT(0) TYPE, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, ?DIARRHEA 7, EXOSTOSES, MULTIPLE, TYPE 2, CODAS SYNDROME, NIEMANN-PICK DISEASE, TYPE B, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 8, LEUKODYSTROPHY, HYPOMYELINATING, 3, DIAMOND-BLACKFAN ANEMIA 1, HUNTINGTON DISEASE-LIKE 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IE, PREMATURE AGING SYNDROME, PENTTINEN TYPE, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY,; LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY,; LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY,; ?LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, SJOGREN-LARSSON SYNDROME, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, LEOPARD SYNDROME 1, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

CA2, SLC34A1, TRIM32, PHEX, CD3D, KCNJ10, IGSF1, ADRB2, RAD21, MT-CO2, ACTB, SEMA3E, IKBKG, CTSA, RPL5, SNX10, KCNJ11, AGT, TP63, ARSB, MRAP2, P4HB, TRAPPC2, ALG3, PRKAR1A, NSDHL, KMT2A, BTK, NEB, KISS1R, CBL, DST, ARSE, PTRF, PNPLA2, COL1A1, PGAP1, CDT1, SERPINH1, NOTCH1, ASPM, SIL1, TGFBR2, CYB5R3, IGF1, WFS1, POMC, P3H1, BCAP31, KIF1A, NF1, FIG4, SMARCA2, VLDLR, TRPV4, KRAS, DSP, MAP2K2, LZTR1, CREBBP, NOTCH2, PGM1, GNAS, NOS3, COL10A1, AGPAT2, SMARCB1, IL6, CIITA, RYR1, PLOD3, PIGG, SCNN1A, LEP, COL1A2, MSMO1, ASS1, GTPBP3, MEGF10, LONP1, NR1I3, RPS19, NR0B1, HLA-DRB1, ELOVL4, LRP5, AVPR2, POR, TGFBR1, SLC4A1, NDUFA2, TMEM173, CACNA1S, ALPL, TSHR, PPIB, PLOD2, FGF23, MPC1, ATP8B1, CYP24A1, ADRB3, TRAPPC9, PKLR, NUBPL, PTPRC, INS, MPDU1, ABCC8, MC4R, MAN1B1, STIM1, DDX3X, AGL, PPARG, GJA1, MYH3, ALG1, HNF4A, EXT1, POGZ, SMPD1, CBS, PEX19, MC2R, CRTAP, PDGFRB, CASR, KIF1B, PEX5, PPP2R1A, ARL6, ALDH3A2, HRAS, HSD11B2, MTOR, DNAJC3, AKT1, PLEC, VDR, PEX16, WNT5A, MRPL3, CFTR, MUT, SPINK5, BMPR1A, UBE3A, EGFR, ATP5A1, IKBKB, AQP2, SNCA, JAG1, MALT1, SLC37A4, SDC3, HSPA9, EFNB1, PTEN, FGFR3, QDPR, MTTP, HCRT, SNAP29, DDOST, G6PC3, STAT3, RUNX2, SUMF1, SAR1B, LCK, SSR4, PIGA, FLNA, IRF8, DHCR24, SLC9A1, AIMP1, ACACA, PTS, JPH3, BMPR1B, SERAC1, DHCR7, PRNP, SEC23A, NPHP1, CENPE, ATM, SMAD4, ATP7A, TGFB1, HADHB, STAT1, ESR1, MAP3K1, NOG, INSR, EBP, PTPN11, KIAA0196, SOS1, LRBA, NDUFB9, BRAF, DPM1, NPHS1, EHHADH, PIP5K1C, FANCC, PTHLH, L1CAM, PCNA, SNRPB, TRH, PIEZO1, RET, AGA, PTH1R, KCNJ2, TUFM, EDNRB, HACE1, LRP2, EIF2AK3, DGAT1, POLR3B, ALB, HSPG2, EXT2, SHH, MTRR, SKIV2L, PIK3R1

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, REVESZ SYNDROME, DONNAI-BARROW SYNDROME, IMMUNODEFICIENCY 15, SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE, BARAITSER-WINTER SYNDROME 1, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, MARSHALL SYNDROME, PSEUDOACHONDROPLASIA, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 3, MULTIPLE SULFATASE DEFICIENCY, 3-METHYLGLUTACONIC ACIDURIA, TYPE I, GAUCHER DISEASE, PERINATAL LETHAL, CZECH DYSPLASIA, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, ?STICKLER SYNDROME, TYPE V, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, WEISSENBACHER-ZWEYMULLER SYNDROME, BRUCK SYNDROME 1, ADENYLOSUCCINASE DEFICIENCY, METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE, MENTAL RETARDATION, X-LINKED 3 (METHYLMALONIC ACIDEMIA AND HOMOCYSTEINEMIA, CBLX TYPE ), COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9, GALACTOSE EPIMERASE DEFICIENCY, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY, 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB, CEREBROCOSTOMANDIBULAR SYNDROME, MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, PONTOCEREBELLAR HYPOPLASIA TYPE 1A, ?OSTEOGENESIS IMPERFECTA, TYPE X, GLUTARICACIDURIA, TYPE I, ZIMMERMANN-LABAND SYNDROME 2, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, D-BIFUNCTIONAL PROTEIN DEFICIENCY, ZIMMERMANN-LABAND SYNDROME 1, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, 3-METHYLCROTONYL-COA CARBOXYLASE 1 DEFICIENCY, STICKLER SYNDROME, TYPE I, CAMURATI-ENGELMANN DISEASE, HUTCHINSON-GILFORD PROGERIA, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, ACYL-COA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF, NIEMANN-PICK DISEASE, TYPE A, SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT, SPONDYLOEPIPHYSEAL DYSPLASIA, KIMBERLEY TYPE, HYPOPHOSPHATASIA, INFANTILE, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 2, CHONDRODYSPLASIA PUNCTATA, X-LINKED RECESSIVE, OSTEOSCLEROSIS, HYPEROSTOSIS, ENDOSTEAL, ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, PYCNODYSOSTOSIS, LOEYS-DIETZ SYNDROME 5, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, LOEYS-DIETZ SYNDROME 2, COENZYME Q10 DEFICIENCY, PRIMARY, 7, MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE), PROPIONICACIDEMIA, GLYCOGEN STORAGE DISEASE XII, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, MANDIBULOACRAL DYSPLASIA, PSEUDOPSEUDOHYPOPARATHYROIDISM, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, EHLERS-DANLOS SYNDROME, TYPE VI, METHYLMALONYL-COA EPIMERASE DEFICIENCY, RUBINSTEIN-TAYBI SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 21, PONTOCEREBELLAR HYPOPLASIA, TYPE 6, ?IMMUNODEFICIENCY 22, ?STEEL SYNDROME, ?MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, OROTIC ACIDURIA, CORNELIA DE LANGE SYNDROME 1, MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE), OTOPALATODIGITAL SYNDROME, TYPE II, PEROXISOME BIOGENESIS DISORDER 3B, PSEUDOHYPOPARATHYROIDISM IC, PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER), HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C, OSTEOGENESIS IMPERFECTA, TYPE IV, GM1-GANGLIOSIDOSIS, TYPE I, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, NOONAN SYNDROME 10, OMODYSPLASIA 1, LEPRECHAUNISM, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12, EPIPHYSEAL DYSPLASIA, MULTIPLE, 3, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), COENZYME Q10 DEFICIENCY, PRIMARY, 2, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1, CUTIS LAXA, AUTOSOMAL DOMINANT 3, TRANSCOBALAMIN II DEFICIENCY, PERRAULT SYNDROME 3, PSEUDOHYPOALDOSTERONISM TYPE I, AUTOSOMAL DOMINANT, MUCOPOLYSACCHARIDOSIS II, CRANIOFRONTONASAL DYSPLASIA, PYRUVATE KINASE DEFICIENCY, METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 27, {METABOLIC SYNDROME, PROTECTION AGAINST}, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2, BRACHYDACTYLY, TYPE A1, C, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, BRUCK SYNDROME 2, BANNAYAN-RILEY-RUVALCABA SYNDROME, ANGELMAN SYNDROME, FUHRMANN SYNDROME, FANCONI ANEMIA, COMPLEMENTATION GROUP O, EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND DEAFNESS, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, CEREBRAL CREATINE DEFICIENCY SYNDROME 3, ?ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), OCULOECTODERMAL SYNDROME, MYHRE SYNDROME, INCONTINENTIA PIGMENTI, CORTISONE REDUCTASE DEFICIENCY 1, MENTAL RETARDATION, X-LINKED 72, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 19, MUCOPOLYSACCHARIDOSIS TYPE IIID, MUCOPOLYSACCHARIDOSIS IH, MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA), OPSISMODYSPLASIA, SELECTIVE T-CELL DEFECT, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, GALACTOSIALIDOSIS, RABSON-MENDENHALL SYNDROME, PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, PSEUDOHYPOPARATHYROIDISM IA, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), SERKAL SYNDROME, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, LYSYL HYDROXYLASE 3 DEFICIENCY, OSTEOGENESIS IMPERFECTA, TYPE I, NEPHRONOPHTHISIS 1, JUVENILE, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, PERRAULT SYNDROME 1, ?INFANTILE LIVER FAILURE SYNDROME 1, CULLER-JONES SYNDROME, COLE-CARPENTER SYNDROME 1, WEAVER SYNDROME, PALLISTER-HALL SYNDROME, EVEN-PLUS SYNDROME, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA, FUMARASE DEFICIENCY, STICKLER SYNDROME, TYPE II, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 26, NOONAN SYNDROME 4, TRYPSINOGEN DEFICIENCY, CHONDRODYSPLASIA, GREBE TYPE, HOLOPROSENCEPHALY-9, SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE, ?ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS AND DIABETES MELLITUS, SKIN FRAGILITY-WOOLLY HAIR SYNDROME, CORNELIA DE LANGE SYNDROME 4, TRIFUNCTIONAL PROTEIN DEFICIENCY, PRADER-WILLI SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE I, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS, OSTEOGENESIS IMPERFECTA, TYPE IX, OSTEOGENESIS IMPERFECTA, TYPE II, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, ?OSTEOGENESIS IMPERFECTA, TYPE XII, ETHYLMALONIC ENCEPHALOPATHY, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, ?DYSTONIA, JUVENILE-ONSET, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, METHYLMALONIC ACIDURIA CBLB TYPE, ?MYOSCLEROSIS, CONGENITAL, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14, ALAGILLE SYNDROME, SED CONGENITA, WIEDEMANN-STEINER SYNDROME, KNIEST DYSPLASIA, MELNICK-NEEDLES SYNDROME, CLOVE SYNDROME, SOMATIC, SPONDYLOPERIPHERAL DYSPLASIA, MUCOPOLYSACCHARIDOSIS VII, ?MUCOPOLYSACCHARIDOSIS TYPE IX, OSTEOGENESIS IMPERFECTA, TYPE XI, AGAMMAGLOBULINEMIA 1, THYROTROPIN-RELEASING HORMONE DEFICIENCY, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, MACROCEPHALY/AUTISM SYNDROME, EPIPHYSEAL DYSPLASIA, MULTIPLE, 2, MARINESCO-SJOGREN SYNDROME, TRICHOHEPATOENTERIC SYNDROME 2, GAUCHER DISEASE, TYPE III, NIEMANN-PICK DISEASE, TYPE B, HYPERPARATHYROIDISM, NEONATAL, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, OSTEOGENESIS IMPERFECTA, TYPE VII, FABRY DISEASE, FABRY DISEASE, CARDIAC VARIANT, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, MASA SYNDROME, CRASH SYNDROME, MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, ?CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA, CARBAMOYLPHOSPHATE SYNTHETASE I DEFICIENCY, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, ENCEPHALOPATHY, NEONATAL SEVERE, EHLERS-DANLOS SYNDROME, TYPE IV, CORNELIA DE LANGE SYNDROME 2, FIBROCHONDROGENESIS 1, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, KRABBE DISEASE, ROBINOW SYNDROME, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13, LOEYS-DIETZ SYNDROME 1, PARKINSON DISEASE 4, SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, MALONYL-COA DECARBOXYLASE DEFICIENCY, SMITH-MCCORT DYSPLASIA 2, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, EPIPHYSEAL DYSPLASIA, MULTIPLE, 1, GABA-TRANSAMINASE DEFICIENCY, NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, KOSAKI OVERGROWTH SYNDROME, MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2, SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE, METAPHYSEAL ANADYSPLASIA 1, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, ANDROGEN INSENSITIVITY, MUCOPOLYSACCHARIDOSIS, MPS-III-A, WOLCOTT-RALLISON SYNDROME, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, HAJDU-CHENEY SYNDROME, RESTRICTIVE DERMOPATHY, LETHAL, SACCHAROPINURIA, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, METAPHYSEAL CHONDRODYSPLASIA, SPAHR TYPE, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, SMED STRUDWICK TYPE, HYPOPHOSPHATASIA, CHILDHOOD, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, DIAMOND-BLACKFAN ANEMIA 6, SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE, PEROXISOMAL FATTY ACYL-COA REDUCTASE 1 DISORDER, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, SHORT SYNDROME, ABCD SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE VIII, ?MENTAL RETARDATION, AUTOSOMAL RECESSIVE 49, OSTEOGENESIS IMPERFECTA, TYPE XVII, GM1-GANGLIOSIDOSIS, TYPE III, NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, MYOTUBULAR MYOPATHY, X-LINKED, MUSCULAR DYSTROPHY, CONGENITAL, OSTEOGENESIS IMPERFECTA, TYPE XV, AGAMMAGLOBULINEMIA 3, ORNITHINE TRANSCARBAMYLASE DEFICIENCY, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY,; LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY,; LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY,; ?LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, INFANTILE CEREBELLAR-RETINAL DEGENERATION, HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, FARBER LIPOGRANULOMATOSIS, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, LEGG-CALVE-PERTHES DISEASE, MUCOPOLYSACCHARIDOSIS IH/S, SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE-DAGHER-MELIKE TYPE, METHYLMALONIC ACIDURIA, MUT(0) TYPE, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, OBESITY WITH IMPAIRED PROHORMONE PROCESSING, EXOSTOSES, MULTIPLE, TYPE 2, CODAS SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, LEOPARD SYNDROME 1, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA, FANCONI ANEMIA, COMPLEMENTATION GROUP C, LEUKODYSTROPHY, HYPOMYELINATING, 3, SECKEL SYNDROME 1, GAUCHER DISEASE, TYPE II, MEIER-GORLIN SYNDROME 1, PREMATURE AGING SYNDROME, PENTTINEN TYPE, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 4, MUCOPOLYSACCHARIDOSIS IVA, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

UCP1, SDC3, MLYCD, CARS2, ASAH1, POLR1A, PRSS1, COL1A1, SDHD, ADSL, ACADS, ORC1, ACTB, GNAS, CIITA, TWIST1, COL3A1, DGUOK, RPL5, GLB1, ATP6V1B2, AGT, COL11A2, GPT2, PPARG, LEP, ETHE1, SPARC, SOX2, CASR, YARS2, GALC, MCCC2, WNT5A, IDUA, HCFC1, PAX8, GLI2, ARSB, PMPCA, COL9A3, HADH, CLPP, COX6B1, IGHM, RAD51C, FH, PEX13, H6PD, MMP1, DNM2, PIK3CA, CTSA, PCCA, GALNS, PRF1, SIL1, TGFBR2, DVL3, PDGFRB, SMAD4, CREBBP, AUH, P3H1, CPS1, WNT7A, ARSE, TRMT5, RAD21, COL10A1, MUSK, ACTA1, SOX9, HSD17B4, FKBP10, ACAN, FARS2, GPC6, GJA1, CBL, EGFR, LZTR1, MTTP, AR, COL6A2, GPC3, IGF2, NOTCH2, IDS, NOS3, COL6A1, FANCC, CBS, LYRM7, AMACR, UMPS, COL7A1, TAF6, LMNA, COL9A2, AKT2, ABAT, MSMO1, HADHA, SUCLG1, PLOD1, ESR1, DSP, PLOD3, LONP1, COL2A1, EARS2, MMP13, GLA, PYCR1, STAT1, SUCLA2, LYRM4, IRF8, DVL1, WNT1, TGFBR1, NDUFS2, MCEE, GLI3, ROR2, NR3C2, ALPL, EZH2, GUSB, SMAD9, SF3B4, GSC, FBXL4, PCNA, NAGS, TP63, PKLR, NDUFA10, TGFB3, INS, PAM16, GCDH, NDUFS3, PCCB, MC4R, COQ4, OTC, LARS, SGSH, ALDOA, RAB39B, DDR2, VRK1, MMAB, SERPINH1, IGF1, COL5A1, CTSK, SMPD1, GNS, TCN2, MECP2, INSR, RAPSN, HLA-DRB1, HDAC6, FLNA, IARS2, PEX19, GCK, RAB33B, NARS2, PEX5, POMC, GDF5, EDNRB, SSR4, MTOR, NDN, AKT1, KRAS, GALE, MARS2, PPIB, MRPL3, IGF1R, MUT, BMPR1A, AASS, UBE3A, LRP2, ATP5A1, SLC25A4, IKBKG, IKBKB, COL27A1, COL1A2, POLD1, SMC1A, SNCA, MCCC1, NDUFA9, HSPA9, EFNB1, ATR, PTEN, ECHS1, QDPR, MMAA, NEU1, DDOST, INPPL1, PNPT1, SKIV2L, HRAS, STAT3, RUNX2, SUMF1, CRTAP, LCK, PCSK1, SDHAF1, NME1, LRP5, UQCC2, ZAP70, AGRP, AIMP1, NDUFS1, AGPS, ALB, JAGN1, NPHP1, TGFB1, JAG1, PTPN11, PEX12, GATA6, CFTR, EIF2AK3, COL11A1, CD79A, PEX7, MT-CO2, PDSS1, HYAL1, COL6A3, SOS1, GATM, NOTCH1, PNPLA2, TINF2, IL6, COL5A2, GBA, SARS2, PDHA1, GNPAT, FAR1, GPX4, SNRPN, L1CAM, PLOD2, SNRPB, TRH, CLASP1, P4HB, CTCF, TUFM, GHRL, ACO2, RARS2, WNT4, DNAJC3, ADA, POLR3B, MYH11, NDUFB11, ALDH18A1, COMP, HSPG2, EXT2, SHH, C10orf2, DHFR, RYR1, PIK3R1

REVESZ SYNDROME, LATERAL MENINGOCELE SYNDROME, BARAITSER-WINTER SYNDROME 1, ?LICHTENSTEIN-KNORR SYNDROME, MULTIPLE SULFATASE DEFICIENCY, OTOPALATODIGITAL SYNDROME, TYPE II, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, BRUCK SYNDROME 1, SELECTIVE T-CELL DEFECT, MENTAL RETARDATION, X-LINKED 3 (METHYLMALONIC ACIDEMIA AND HOMOCYSTEINEMIA, CBLX TYPE ), DONNAI-BARROW SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, CEREBRAL DYSGENESIS, NEUROPATHY, ICHTHYOSIS, AND PALMOPLANTAR KERATODERMA SYNDROME, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE, MULTIPLE ENDOCRINE NEOPLASIA IIB, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, MELNICK-NEEDLES SYNDROME, MYHRE SYNDROME, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, COLE-CARPENTER SYNDROME 2, NETHERTON SYNDROME, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, HUTCHINSON-GILFORD PROGERIA, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, LYMPHEDEMA, HEREDITARY, III, RICKETS DUE TO DEFECT IN VITAMIN D 25-HYDROXYLATION, HYPOPHOSPHATASIA, INFANTILE, CHONDRODYSPLASIA PUNCTATA, X-LINKED RECESSIVE, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE, KLEEFSTRA SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, STORMORKEN SYNDROME, DIABETES INSIPIDUS, NEPHROGENIC, {BARDET-BIEDL SYNDROME 14, MODIFIER OF}, ?BARDET-BIEDL SYNDROME 14, GLYCOGEN STORAGE DISEASE XII, EXOSTOSES, MULTIPLE, TYPE 1, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, MANDIBULOACRAL DYSPLASIA, PETERS-PLUS SYNDROME, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2, MEIER-GORLIN SYNDROME 5, ?LAURENCE-MOON SYNDROME, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, ?IMMUNODEFICIENCY 22, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 1, SMITH-LEMLI-OPITZ SYNDROME, ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES, MEND SYNDROME, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IK, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, DESMOSTEROLOSIS, INCONTINENTIA PIGMENTI, LEPRECHAUNISM, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1, HAJDU-CHENEY SYNDROME, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, PERRY SYNDROME, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), GLUCOSE-6-PHOSPHATE TRANSPORT DEFECT, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 53, OCULOECTODERMAL SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2R, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, METHEMOGLOBINEMIA, TYPE II, METHEMOGLOBINEMIA, TYPE I, PSEUDOHYPOALDOSTERONISM TYPE I, AUTOSOMAL DOMINANT, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, CK SYNDROME, DIAMOND-BLACKFAN ANEMIA 6, SPONDYLOOCULAR SYNDROME, LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, BRUCK SYNDROME 2, DIAMOND-BLACKFAN ANEMIA 9, SHORT SYNDROME, ANGELMAN SYNDROME, MUSCULAR DYSTROPHY, CONGENITAL, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 3, ?MITOCHONDRIAL MYOPATHY WITH LACTIC ACIDOSIS, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, MENTAL RETARDATION, AUTOSOMAL DOMINANT 35, STRIATONIGRAL DEGENERATION, INFANTILE, CHYLOMICRON RETENTION DISEASE, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, ACROCAPITOFEMORAL DYSPLASIA, PRADER-WILLI SYNDROME, OLIVER-MCFARLANE SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE XI, DEAFNESS, DYSTONIA, AND CEREBRAL HYPOMYELINATION, WOLFRAM SYNDROME, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IF, GALACTOSIALIDOSIS, RABSON-MENDENHALL SYNDROME, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, BRACHYDACTYLY, TYPE A1, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, CORTISONE REDUCTASE DEFICIENCY 2, WHITE-SUTTON SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IM, MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE, LYSYL HYDROXYLASE 3 DEFICIENCY, NEPHRONOPHTHISIS 1, JUVENILE, CHIME SYNDROME, COACH SYNDROME, HYPERANDROGENISM, NONCLASSIC TYPE, DUE TO 21-HYDROXYLASE DEFICIENCY, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY, COLE-CARPENTER SYNDROME 1, WEAVER SYNDROME, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1, GALACTOSE EPIMERASE DEFICIENCY, ?RETINAL DYSTROPHY, JUVENILE CATARACTS, AND SHORT STATURE SYNDROME, ?ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS AND DIABETES MELLITUS, CORNELIA DE LANGE SYNDROME 4, BRACHYDACTYLY, TYPE E2, OTOPALATODIGITAL SYNDROME, TYPE I, GLYCOGEN STORAGE DISEASE IA, MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS, NEPHROTIC SYNDROME, TYPE 1, ?OSTEOGENESIS IMPERFECTA, TYPE XII, ?WEBB-DATTANI SYNDROME, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, WARBURG MICRO SYNDROME 4, ?DYSTONIA, JUVENILE-ONSET, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, NOONAN SYNDROME 10, ?N-ACETYLASPARTATE DEFICIENCY, PEROXISOME BIOGENESIS DISORDER 8B, RESTRICTIVE DERMOPATHY, LETHAL, CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME, AGAMMAGLOBULINEMIA 1, THYROTROPIN-RELEASING HORMONE DEFICIENCY, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, MACROCEPHALY/AUTISM SYNDROME, SCHNECKENBECKEN DYSPLASIA, CAMURATI-ENGELMANN DISEASE, ALAZAMI SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, HYPERPARATHYROIDISM, NEONATAL, GLYCOGEN STORAGE DISEASE IC, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9, DESBUQUOIS DYSPLASIA 2, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MILD VARIANT, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MASA SYNDROME, CRASH SYNDROME, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, CRANIOLENTICULOSUTURAL DYSPLASIA, HYPERTHYROIDISM, NONAUTOIMMUNE, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ROBINOW SYNDROME, LOEYS-DIETZ SYNDROME 1, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, ?ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, DESBUQUOIS DYSPLASIA 1, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, ANDROGEN INSENSITIVITY, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, WOLCOTT-RALLISON SYNDROME, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, MUSCULAR DYSTROPHY, RIGID SPINE, 1, CHILD SYNDROME, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, DURSUN SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 4, AUTOSOMAL RECESSIVE, HYPOPHOSPHATASIA, CHILDHOOD, SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2, MENTAL RETARDATION, X-LINKED SYNDROMIC, CHRISTIANSON TYPE, ?MICROCEPHALY 16, PRIMARY, AUTOSOMAL RECESSIVE, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IW, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, GLUCOCORTICOID DEFICIENCY, DUE TO ACTH UNRESPONSIVENESS, EHLERS-DANLOS SYNDROME, TYPE VI, PONTOCEREBELLAR HYPOPLASIA, TYPE 10, 3MC SYNDROME 1, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15, ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE ID, METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42, NEPHRONOPHTHISIS 11, {?OBESITY, SUSCEPTIBILITY TO, BMIQ18}, ?NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI, SENIOR-LOKEN SYNDROME 9, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, DIAMOND-BLACKFAN ANEMIA 7, CHONDRODYSPLASIA PUNCTATA, X-LINKED DOMINANT, CYSTINOSIS, ATYPICAL NEPHROPATHIC, CYSTINOSIS, NEPHROPATHIC, TRICHOHEPATOENTERIC SYNDROME 2, BANNAYAN-RILEY-RUVALCABA SYNDROME, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, ?DIARRHEA 7, EXOSTOSES, MULTIPLE, TYPE 2, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, LEOPARD SYNDROME 1, DIAMOND-BLACKFAN ANEMIA 1, HUNTINGTON DISEASE-LIKE 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IE, CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY,; LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY,; LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY,; ?LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, SJOGREN-LARSSON SYNDROME, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

DHCR24, PDE4D, RPL5, SEC23A, RDH11, PLOD3, POLR1A, LMNA, ADRB2, RAD21, FKBP10, PIGT, IKBKG, CTSA, JPH3, ALPL, B3GLCT, AGT, TP63, ARSB, PPARG, PTDSS1, NOTCH3, ALG3, PRKAR1A, PCYT1A, NSDHL, BTK, GJA1, G6PC3, HCFC1, GALE, ARSE, UCP3, CBL, DST, IGHM, PIGO, PNPLA2, PGAP1, G6PC, AR, ASPM, POR, CYB5R3, IGF1, WFS1, HSD11B1, PIGG, CLP1, NR3C2, SEC24D, CYP2R1, ACTB, KRAS, STT3A, EGFR, LZTR1, SPINK5, NME1, P4HB, NOS3, AGPAT2, CBS, RYR1, EPHX1, LEP, BCAP31, MSMO1, POGZ, CANT1, PLOD1, MEGF10, NR1I3, NR0B1, HLA-DRB1, PNPLA8, AVPR2, HNF4A, DVL1, TGFBR1, TMEM173, PIGY, ABCD4, TSHR, CYP21A2, PCNA, TBC1D20, PNPLA6, NUP62, ARNT2, JAGN1, NOTCH1, ACD, MPDU1, EZH2, MC4R, MAN1B1, STIM1, ALDOA, AGL, MRAP2, TRAF3IP1, XYLT2, SLC9A6, EXT1, TMCO1, CTNS, MC2R, CASR, CNTN1, NAT8L, ANKLE2, BCS1L, PPP2R1A, ALDH3A2, TRIM2, MTOR, NDN, DNAJC3, AKT1, ITPR2, VDR, MRPL3, IGF1R, BMPR1A, NPHS1, DOLK, ATP5A1, NOTCH2, LARP7, IHH, RPS10, CDC6, TMEM67, SLC37A4, SDC3, RPS19, PTEN, QDPR, POMC, SNAP29, DDOST, EIF4A3, STAT3, RUNX2, SUMF1, SAR1B, LCK, SSR4, DPM1, FLNA, ZAP70, SLC9A1, MASP1, PPP2R5D, SEPN1, BMPR1B, PIGA, DHCR7, NPHP1, XYLT1, PIGL, PTPN11, SMAD4, CFTR, EIF2AK3, TGFB1, STAT1, ESR1, MT-CO2, INSR, EBP, DVL3, ALG1, TINF2, IL6, UBE3A, PIGN, RPL11, ZMPSTE24, PTHLH, L1CAM, INS, PLOD2, TRH, PIEZO1, RET, PEX19, HRAS, PEX16, LRP2, DGAT1, POLR3B, NR0B2, CYP7B1, ALB, HSPG2, EXT2, SLC35D1, SHH, HSD3B7, DCTN1, TUFM, SKIV2L, PIK3R1

MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 13, REVESZ SYNDROME, IMMUNODEFICIENCY 15, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, BARAITSER-WINTER SYNDROME 1, THANATOPHORIC DYSPLASIA, TYPE II, EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, XERODERMA PIGMENTOSUM, TYPE F/COCKAYNE SYNDROME, XERODERMA PIGMENTOSUM, GROUP F, MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2, CRANIOFRONTONASAL DYSPLASIA, NEUROPATHY, HEREDITARY SENSORY, TYPE IIC, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ACHONDROPLASIA, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, THANATOPHORIC DYSPLASIA, TYPE I, DIAMOND-BLACKFAN ANEMIA 4, ATELOSTEOGENESIS, TYPE I, SELECTIVE T-CELL DEFECT, ?SECKEL SYNDROME 6, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DONNAI-BARROW SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, CEREBRAL DYSGENESIS, NEUROPATHY, ICHTHYOSIS, AND PALMOPLANTAR KERATODERMA SYNDROME, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, MULTIPLE ENDOCRINE NEOPLASIA IIB, SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, MELNICK-NEEDLES SYNDROME, ?OSTEOGENESIS IMPERFECTA, TYPE X, KLIPPEL-FEIL SYNDROME 4, AUTOSOMAL RECESSIVE, WITH MYOPATHY AND FACIAL DYSMORPHISM, COLE-CARPENTER SYNDROME 1, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2, TRANSALDOLASE DEFICIENCY, MYOTUBULAR MYOPATHY, X-LINKED, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, ?NARCOLEPSY 1, CARDIOFACIOCUTANEOUS SYNDROME, FANCONI RENOTUBULAR SYNDROME 2, ?LICHTENSTEIN-KNORR SYNDROME, HUTCHINSON-GILFORD PROGERIA, WARBURG MICRO SYNDROME 2, METATROPIC DYSPLASIA, LOEYS-DIETZ SYNDROME 2, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE, LEOPARD SYNDROME 3, CAMURATI-ENGELMANN DISEASE, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA AND MICROGNATHIA, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, SALLA DISEASE, {BARDET-BIEDL SYNDROME 14, MODIFIER OF}, ?BARDET-BIEDL SYNDROME 14, MENTAL RETARDATION, X-LINKED 99, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, MANDIBULOACRAL DYSPLASIA, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, COACH SYNDROME, RUBINSTEIN-TAYBI SYNDROME, XERODERMA PIGMENTOSUM, GROUP B, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, WIEDEMANN-STEINER SYNDROME, ?CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA, BARDET-BIEDL SYNDROME 16, SADDAN, DIAMOND-BLACKFAN ANEMIA 9, COFFIN-LOWRY SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE II, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IV, ?POLYENDOCRINE-POLYNEUROPATHY SYNDROME, BOHRING-OPITZ SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE IV, ARTHYRGRYPOSIS, DISTAL, TYPE 2B, ARTHROGRYPOSIS, DISTAL, TYPE 2B, ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 2B, ALSTROM SYNDROME, NEPHRONOPHTHISIS 4, BECKWITH-WIEDEMANN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, FANCONI ANEMIA, COMPLEMENTATION GROUP P, INCONTINENTIA PIGMENTI, LEPRECHAUNISM, LARSEN SYNDROME, HAJDU-CHENEY SYNDROME, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, PERRY SYNDROME, SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B-CELL/NATURAL KILLER-CELL POSITIVE, SEVERE COMBINED IMMUNODEFICIENCY, T-CELL NEGATIVE, B-CELL/NATURAL KILLER CELL-POSITIVE TYPE, CONGENITAL SHORT BOWEL SYNDROME, ABCD SYNDROME, OCULOECTODERMAL SYNDROME, DIAMOND-BLACKFAN ANEMIA 8, PERIVENTRICULAR HETEROTOPIA WITH MICROCEPHALY, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, HYPOTHYROIDISM, CONGENITAL NONGOITROUS, 5, BILE ACID MALABSORPTION, PRIMARY, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SECKEL SYNDROME 2, CINCA SYNDROME, PHELAN-MCDERMID SYNDROME, CATSHL SYNDROME, SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, FRANK-TER HAAR SYNDROME, MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, SHORT SYNDROME, DIABETES MELLITUS, TRANSIENT NEONATAL, 3, DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3, WITH RENAL TUBULAR ACIDOSIS, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, GLUCOSE/GALACTOSE MALABSORPTION, MARTSOLF SYNDROME, PSEUDOHYPOALDOSTERONISM, TYPE I, STRIATONIGRAL DEGENERATION, INFANTILE, PARKINSON DISEASE 4, SCLEROSTEOSIS 2, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 11, ARTHROGRYPOSIS, DISTAL, TYPE 2A, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, OPSISMODYSPLASIA, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL, SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE, METAPHYSEAL ANADYSPLASIA 1, RABSON-MENDENHALL SYNDROME, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, ?MICROHYDRANENCEPHALY, CORPUS CALLOSUM AGENESIS, OSTEOGENESIS IMPERFECTA, TYPE II, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, MECKEL SYNDROME 4, MYASTHENIC SYNDROME, CONGENITAL, 2A, SLOW-CHANNEL, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, OSTEOGENESIS IMPERFECTA, TYPE I, NEPHRONOPHTHISIS 1, JUVENILE, BEARE-STEVENSON CUTIS GYRATA SYNDROME, WARBURG MICRO SYNDROME 1, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B, 3-M SYNDROME 1, CULLER-JONES SYNDROME, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, OSTEOGLOPHONIC DYSPLASIA, EVEN-PLUS SYNDROME, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1, ?RETINAL DYSTROPHY AND OBESITY, WIEACKER-WOLFF SYNDROME, METAPHYSEAL CHONDRODYSPLASIA, SPAHR TYPE, ?BARDET-BIEDL SYNDROME 11, ZIMMERMANN-LABAND SYNDROME 1, NOONAN SYNDROME 4, BARTTER SYNDROME, TYPE 2, HOLOPROSENCEPHALY-9, ?JOUBERT SYNDROME 22, ARTHROGRYPOSIS, DISTAL, TYPE 8, SKIN FRAGILITY-WOOLLY HAIR SYNDROME, CORNELIA DE LANGE SYNDROME 4, ?PONTOCEREBELLAR HYPOPLASIA, TYPE 3, OTOPALATODIGITAL SYNDROME, TYPE I, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, OSTEOGENESIS IMPERFECTA, TYPE IX, NEPHROTIC SYNDROME, TYPE 1, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, COFFIN-SIRIS SYNDROME 4, LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, ?DYSTONIA, JUVENILE-ONSET, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 2, ?MECKEL SYNDROME 12, ALAGILLE SYNDROME, ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES, CLOVE SYNDROME, SOMATIC, TARSAL-CARPAL COALITION SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 6, RESTRICTIVE DERMOPATHY, LETHAL, APERT SYNDROME, MUSCULAR DYSTROPHY, CONGENITAL, LEUKODYSTROPHY, HYPOMYELINATING, 12, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ATELEIOTIC DWARFISM, MACROCEPHALY/AUTISM SYNDROME, MUENKE SYNDROME, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, HYPERPARATHYROIDISM, NEONATAL, ANDERSEN SYNDROME, NICOLAIDES-BARAITSER SYNDROME, SENIOR-LOKEN SYNDROME 9, SPONDYLOCOSTAL DYSOSTOSIS 5, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MILD VARIANT, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, PARASTREMMATIC DWARFISM, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, OGDEN SYNDROME, MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2, CORNELIA DE LANGE SYNDROME 1, BARDET-BIEDL SYNDROME 4, TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE, ?SECKEL SYNDROME 4, ?IMMUNODEFICIENCY 22, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE, ENCEPHALOPAHTY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL PEROXISOMAL FISSION, CORNELIA DE LANGE SYNDROME 2, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, HYPOCHONDROPLASIA, ROBINOW SYNDROME, MENTAL RETARDATION, X-LINKED 19, SINGLETON-MERTEN SYNDROME 2, LOEYS-DIETZ SYNDROME 1, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE, IMAGE SYNDROME, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, KOSAKI OVERGROWTH SYNDROME, HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY, BLOOM SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, SESAME SYNDROME, SEIZURES, CORTICAL BLINDNESS, MICROCEPHALY SYNDROME, 46XY SEX REVERSAL 6, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, ANDROGEN INSENSITIVITY, WOLCOTT-RALLISON SYNDROME, FANCONI ANEMIA, COMPLEMENTATION GROUP Q, BOOMERANG DYSPLASIA, DIABETES INSIPIDUS, NEPHROGENIC, PEELING SKIN SYNDROME 1, PREMATURE AGING SYNDROME, PENTTINEN TYPE, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, LATERAL MENINGOCELE SYNDROME, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE, SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY, LETHAL CONGENITAL CONTRACTURAL SYNDROME 3, SIALIC ACID STORAGE DISORDER, INFANTILE, SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME, MYHRE SYNDROME, LISSENCEPHALY 4 (WITH MICROCEPHALY), THYROTROPIN-RELEASING HORMONE DEFICIENCY, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, ESTROGEN RESISTANCE, DIAMOND-BLACKFAN ANEMIA 6, 3MC SYNDROME 1, NOONAN SYNDROME 7, NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY, NEPHRONOPHTHISIS 11, STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, ESCOBAR SYNDROME, ECTODERMAL DYSPLASIA 2, CLOUSTON TYPE, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, HYPOMAGNESEMIA 3, RENAL, MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED, DYSAUTONOMIA, FAMILIAL, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, ?MICROPHTHALMIA, SYNDROMIC 1, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2, PALLISTER-HALL SYNDROME, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, MASA SYNDROME, CRASH SYNDROME, ERYTHRODERMA, CONGENITAL, WITH PALMOPLANTAR KERATODERMA, HYPOTRICHOSIS, AND HYPER IGE, LEOPARD SYNDROME 1, BRACHYOLMIA TYPE 3, DIAMOND-BLACKFAN ANEMIA 1, SECKEL SYNDROME 1, SMITH-KINGSMORE SYNDROME, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES, ?NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 2, PROTEUS SYNDROME, SOMATIC

CA2, SLC34A1, TRIM32, GJB6, FGFR1, CLMP, KCNJ10, PDE4D, ADRB2, NAA10, CHRNG, PRKACA, ACTB, IGBP1, IKBKG, RPS7, NPHP1, SMARCA4, RPL5, KLF1, TERT, AGT, TP63, PPARG, TAF6, NOTCH3, BBS4, KDM1A, PCYT1A, NPHP4, DSG1, MYH11, KIF14, BTK, NEB, KMT2A, SLC17A5, MMP1, VPS11, CBL, DST, ITCH, PDE6D, CDK5RAP2, PNPLA2, COL1A1, DNM2, PIK3CA, SERPINH1, NOTCH1, RPS19, TGFBR2, SMAD4, RAB3GAP2, MYH3, GRID2, IKBKAP, RAD21, CUL7, KIF1A, MUSK, TUB, ACTA1, SOX9, KCNH1, DOK7, XRCC4, KRAS, MEGF10, MAP2K2, EGFR, NKX2-5, POMC, NME1, GPC3, ALMS1, IGF2, ZAP70, NOS3, GCH1, ERCC3, GLI2, PIGT, CIITA, RYR1, CRIPT, SHANK3, BLK, EPCAM, LEP, LMNA, SDCCAG8, ZC4H2, DDOST, ARFGEF2, MYO18B, KIF5C, DSP, CHRND, KCNJ1, MMP13, TPM2, EFTUD2, MPC1, GLIS3, TGFBR1, FGFR3, TAF1, L1CAM, RPS10, ZBTB16, POLR3A, SF3B4, IRF8, CLDN16, RPS6KA3, RBBP8, STAT3, DDR2, JAGN1, PTPRC, INS, DNM1L, ABCC8, PPP1R15B, RET, KCNJ11, DVL1, TRAF3IP1, SMARCA2, IGF1, USP9X, DVL3, FRMD4A, CHRNB1, CEP290, ERCC4, RAPSN, RAB3GAP1, HDAC6, FLNA, CASR, CNTN1, GJA1, KIF1B, NUP62, PPP2R1A, CHRNA1, RPGRIP1L, HRAS, PLK4, MTOR, NDE1, AKT1, PLEC, INPPL1, PRKDC, PPIB, IGF1R, RPS17, SLC5A1, NPHS1, LRP2, ATP5A1, IKBKB, DCTN1, CASP8, SLC10A2, GLI3, SMC1A, SNCA, JAG1, CDKN1C, SDC3, HSPA9, EFNB1, PTEN, TRPV4, ABCB11, HCRT, SNAP29, CFTR, EIF4A3, TUBB4A, RUNX2, CENPJ, LRP4, LCK, AR, SLC2A1, TALDO1, SLC9A1, MASP1, MYH7, ATR, ASXL1, AQP2, PIK3R2, KIF22, P4HB, PTPN11, PIP5K1C, DDX58, EIF2AK3, TGFB1, PCLO, STAT1, ESR1, MAP3K1, NOG, INSR, NOTCH2, SOS1, DIAPH1, BLM, PDGFRB, FGFR2, CREBBP, BRAF, IL6, DMXL2, NEU1, SCNN1A, CACNA1S, ACD, PCNA, TRH, CLASP1, SLX4, GRM1, KCNJ2, EDNRB, HACE1, TMEM67, CDSN, ADA, OCLN, HES7, NR0B2, SH3PXD2B, BMPR1B, HSPG2, NLRP3, SHH, TINF2, CEP63, SPATA5, FLNB, CASK, PIK3R1

BARAITSER-WINTER SYNDROME 1, THANATOPHORIC DYSPLASIA, TYPE II, ?LICHTENSTEIN-KNORR SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE II, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ACHONDROPLASIA, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, THANATOPHORIC DYSPLASIA, TYPE I, DIAMOND-BLACKFAN ANEMIA 4, ATELOSTEOGENESIS, TYPE I, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DONNAI-BARROW SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, DIAMOND-BLACKFAN ANEMIA 6, MULTIPLE ENDOCRINE NEOPLASIA IIB, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, MELNICK-NEEDLES SYNDROME, ?OSTEOGENESIS IMPERFECTA, TYPE X, ZIMMERMANN-LABAND SYNDROME 2, COLE-CARPENTER SYNDROME 1, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA AND MICROGNATHIA, MYOTUBULAR MYOPATHY, X-LINKED, ZIMMERMANN-LABAND SYNDROME 1, CARDIOFACIOCUTANEOUS SYNDROME, CAMURATI-ENGELMANN DISEASE, HUTCHINSON-GILFORD PROGERIA, METATROPIC DYSPLASIA, LEOPARD SYNDROME 3, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, MANDIBULOACRAL DYSPLASIA, ARTHYRGRYPOSIS, DISTAL, TYPE 2B, ARTHROGRYPOSIS, DISTAL, TYPE 2B, ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 2B, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, SADDAN, OSTEOGENESIS IMPERFECTA, TYPE IV, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, NEUROPATHY, HEREDITARY SENSORY, TYPE IIC, LARSEN SYNDROME, BOOMERANG DYSPLASIA, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B-CELL/NATURAL KILLER-CELL POSITIVE, SEVERE COMBINED IMMUNODEFICIENCY, T-CELL NEGATIVE, B-CELL/NATURAL KILLER CELL-POSITIVE TYPE, OCULOECTODERMAL SYNDROME, DIAMOND-BLACKFAN ANEMIA 8, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SECKEL SYNDROME 2, CINCA SYNDROME, CATSHL SYNDROME, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, DIAMOND-BLACKFAN ANEMIA 9, SHORT SYNDROME, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, ARTHROGRYPOSIS, DISTAL, TYPE 2A, OPSISMODYSPLASIA, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, OSTEOGENESIS IMPERFECTA, TYPE I, BEARE-STEVENSON CUTIS GYRATA SYNDROME, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, OSTEOGLOPHONIC DYSPLASIA, EVEN-PLUS SYNDROME, NOONAN SYNDROME 4, ARTHROGRYPOSIS, DISTAL, TYPE 8, CORNELIA DE LANGE SYNDROME 4, OTOPALATODIGITAL SYNDROME, TYPE I, OSTEOGENESIS IMPERFECTA, TYPE IX, OSTEOGENESIS IMPERFECTA, TYPE II, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, COFFIN-SIRIS SYNDROME 4, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, WIEDEMANN-STEINER SYNDROME, RESTRICTIVE DERMOPATHY, LETHAL, MUSCULAR DYSTROPHY, CONGENITAL, LEUKODYSTROPHY, HYPOMYELINATING, 12, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, MACROCEPHALY/AUTISM SYNDROME, MUENKE SYNDROME, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, PARASTREMMATIC DWARFISM, CORNELIA DE LANGE SYNDROME 1, HYPOCHONDROPLASIA, ?IMMUNODEFICIENCY 22, SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE, CORNELIA DE LANGE SYNDROME 2, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, LOEYS-DIETZ SYNDROME 1, SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE, HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC, SPONDYLOCOSTAL DYSOSTOSIS 5, NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, KOSAKI OVERGROWTH SYNDROME, SESAME SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, ANDROGEN INSENSITIVITY, WOLCOTT-RALLISON SYNDROME, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, LETHAL CONGENITAL CONTRACTURAL SYNDROME 3, SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME, MYHRE SYNDROME, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, NOONAN SYNDROME 7, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, APERT SYNDROME, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, MASA SYNDROME, CRASH SYNDROME, BRACHYOLMIA TYPE 3, DIAMOND-BLACKFAN ANEMIA 1, PREMATURE AGING SYNDROME, PENTTINEN TYPE, ?NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, LEOPARD SYNDROME 1, SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 2, PROTEUS SYNDROME, SOMATIC

LMNA, DNM2, KMT2A, COL1A1, RAD21, PRKACA, ACTB, IGBP1, RPL5, ATP6V1B2, AGT, PPARG, LEP, KDM1A, DDR2, MYH7, DST, PNPLA2, MMP1, SMARCA4, SERPINH1, HSPA9, PDGFRB, SMAD4, MYH3, SF3B4, PTEN, ACTA1, TRPV4, PLEC, MAP2K2, AR, P4HB, PIGT, NOS3, FGFR1, TAF6, CBL, STAT1, RPS17, TGFBR1, RPS10, KIF1A, RBBP8, STAT3, PTPRC, INS, RET, GJA1, IGF1, TPM2, HES7, PPP2R1A, KIF1B, SMC1A, KRAS, INPPL1, PRKDC, PPIB, LRP2, ATP5A1, CASP8, AKT1, RPS19, RPS7, FGFR3, LCK, FLNA, SLC9A1, KCNJ10, KIF22, IGF2, PTPN11, PIP5K1C, EIF2AK3, TGFB1, CASK, NLRP3, VPS11, NOTCH1, SOS1, FGFR2, BRAF, IL6, L1CAM, GPC3, HRAS, EGFR, MYH11, HSPG2, ESR1, PIK3R1, FLNB, SHH

BARAITSER-WINTER SYNDROME 1, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, CZECH DYSPLASIA, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, SHORT SYNDROME, SELECTIVE T-CELL DEFECT, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, CEREBRAL DYSGENESIS, NEUROPATHY, ICHTHYOSIS, AND PALMOPLANTAR KERATODERMA SYNDROME, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, MULTIPLE ENDOCRINE NEOPLASIA IIB, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA, MELNICK-NEEDLES SYNDROME, INTERSTITIAL LUNG AND LIVER DISEASE, MYHRE SYNDROME, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, COLE-CARPENTER SYNDROME 2, STICKLER SYNDROME, TYPE I, ?LICHTENSTEIN-KNORR SYNDROME, DYSAUTONOMIA, FAMILIAL, CAMURATI-ENGELMANN DISEASE, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, OTOPALATODIGITAL SYNDROME, TYPE II, ?BARDET-BIEDL SYNDROME 19, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, SALLA DISEASE, LARON DWARFISM, {BARDET-BIEDL SYNDROME 14, MODIFIER OF}, ?BARDET-BIEDL SYNDROME 14, GLYCOGEN STORAGE DISEASE XII, PSEUDOHYPOPARATHYROIDISM IC, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, PSEUDOPSEUDOHYPOPARATHYROIDISM, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, PITUITARY HORMONE DEFICIENCY, COMBINED, 6, RUBINSTEIN-TAYBI SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 21, IMMUNODEFICIENCY 7, TCR-ALPHA/BETA DEFICIENT, MENKES DISEASE, ATAXIA-TELANGIECTASIA, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IV, ?POLYENDOCRINE-POLYNEUROPATHY SYNDROME, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, BILE ACID MALABSORPTION, PRIMARY, LEPRECHAUNISM, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, PERRY SYNDROME, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2R, ?IMMUNODEFICIENCY 22, MICROVILLUS INCLUSION DISEASE, SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, CRANIOFRONTONASAL DYSPLASIA, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, DIAMOND-BLACKFAN ANEMIA 6, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, FRANK-TER HAAR SYNDROME, ANGELMAN SYNDROME, WRINKLY SKIN SYNDROME, DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3, WITH RENAL TUBULAR ACIDOSIS, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND DEAFNESS, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, PARKINSON DISEASE 4, CHYLOMICRON RETENTION DISEASE, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, PONTOCEREBELLAR HYPOPLASIA, TYPE 2E, ACHONDROGENESIS, TYPE IA, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1, GALACTOSIALIDOSIS, RABSON-MENDENHALL SYNDROME, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CARPENTER SYNDROME, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, MEDNIK SYNDROME, COACH SYNDROME, CULLER-JONES SYNDROME, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, WARBURG MICRO SYNDROME 3, OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA, LOWE SYNDROME, NOONAN SYNDROME 4, HOLOPROSENCEPHALY-9, ?JOUBERT SYNDROME 22, BANNAYAN-RILEY-RUVALCABA SYNDROME, BRACHYDACTYLY, TYPE E2, OTOPALATODIGITAL SYNDROME, TYPE I, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, NEPHROTIC SYNDROME, TYPE 1, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, ?DYSTONIA, JUVENILE-ONSET, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 2, SED CONGENITA, TRYPSINOGEN DEFICIENCY, KNIEST DYSPLASIA, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, SPONDYLOPERIPHERAL DYSPLASIA, LEUKODYSTROPHY, HYPOMYELINATING, 6, LEUKODYSTROPHY, HYPOMYELINATING, 12, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, MACROCEPHALY/AUTISM SYNDROME, ?IMMUNODEFICIENCY, COMMON VARIABLE, 11, MARINESCO-SJOGREN SYNDROME, RENAL TUBULAR ACIDOSIS, DISTAL, AR, GROWTH HORMONE DEFICIENCY, ISOLATED PARTIAL, HYPERPARATHYROIDISM, NEONATAL, SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE, GROWTH HORMONE INSENSITIVITY, PARTIAL, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MILD VARIANT, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MASA SYNDROME, CRASH SYNDROME, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, OSTEOSCLEROSIS, HYPEROSTOSIS, ENDOSTEAL, AMYOTROPHY, HEREDITARY NEURALGIC, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2, CRANIOLENTICULOSUTURAL DYSPLASIA, HYPERTHYROIDISM, NONAUTOIMMUNE, RENAL TUBULAR ACIDOSIS, DISTAL, AD, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, HYPOTHYROIDISM, CONGENITAL NONGOITROUS, 5, ENCEPHALOPAHTY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL PEROXISOMAL FISSION, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ROBINOW SYNDROME, LOEYS-DIETZ SYNDROME 1, MYOTUBULAR MYOPATHY, X-LINKED, LOEYS-DIETZ SYNDROME 5, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, PSEUDOHYPOPARATHYROIDISM IA, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, KOSAKI OVERGROWTH SYNDROME, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, CLOVE SYNDROME, SOMATIC, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, SINGLETON-MERTEN SYNDROME 2, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, SIALIC ACID STORAGE DISORDER, INFANTILE, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, SECKEL SYNDROME 1, DIABETES INSIPIDUS, NEPHROGENIC, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, PREMATURE AGING SYNDROME, PENTTINEN TYPE, WARBURG MICRO SYNDROME 1, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, SMED STRUDWICK TYPE, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE, OSTEOGENESIS IMPERFECTA, TYPE XVII, 3MC SYNDROME 1, NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE, METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, NEPHRONOPHTHISIS 11, SENIOR-LOKEN SYNDROME 9, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, LEGG-CALVE-PERTHES DISEASE, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, METHYLMALONIC ACIDURIA, MUT(0) TYPE, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE, OBESITY WITH IMPAIRED PROHORMONE PROCESSING, LEOPARD SYNDROME 1, PALLISTER-HALL SYNDROME, DENT DISEASE 2, {CELIAC DISEASE, SUSCEPTIBILITY TO}, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

CA2, UCP1, MARS2, WNT5A, PRSS1, ADRB2, VPS11, ACTB, GNAS, CIITA, CTSA, RPL5, KLF1, AP4B1, VPS53, PPARG, OTX2, PRKAR1A, TRAF3IP1, BTK, GLI2, SLC17A5, UCP3, PDE6D, DNM2, HLA-DQA1, PIK3CA, PDGFRB, SMAD4, CREBBP, OCRL, COL2A1, ATP6V0A2, SF3B4, PTEN, ACTA1, SOX9, SOX2, CBL, CASP8, EGFR, NKX2-5, POMC, GPC3, IGF2, ZAP70, NOS3, IL21, LEP, AKT2, DDOST, DMXL2, MEGF10, IKBKAP, STAT1, VPS33B, IRF8, GLIS3, SPARC, TCIRG1, TGFB3, SLC4A1, AP1S1, ROR2, TMEM173, SDC3, GSC, RAB18, AGT, STAT3, INS, DNM1L, SEPT9, GATA1, TGFBR1, ALDOA, AGL, GJA1, IGF1, DVL3, GHR, HLA-DRB1, HDAC6, LRP5, CASR, TGFB1, MYO5B, KIF1B, TRIM2, HRAS, PLK4, PTHLH, AKT1, TRIP11, TRAC, PCSK1, DDX58, MUT, RAB23, NPHS1, HLA-DQB1, ATP5A1, SH3PXD2B, DCTN1, GLI3, AQP2, SNCA, TSHR, SIL1, EFNB1, SEC24D, MUSK, ABCB11, SNAP29, CFTR, TUBB4A, RUNX2, SAR1B, LCK, PRKDC, FLNA, MYH11, SLC9A1, MASP1, ALB, JAGN1, SEC23A, PTPN11, ATM, GATA6, IGF1R, ATP7A, IFT27, ABCA3, CASK, PRKACA, INSR, SOS1, IL6, UBE3A, MARS, RAB3GAP1, L1CAM, PCNA, RET, CTCF, GHRL, TMEM67, SLC10A2, ADA, OCLN, VPS45, ATR, HSPG2, PIK3R1, MTOR, SHH

D-BIFUNCTIONAL PROTEIN DEFICIENCY, PEROXISOME BIOGENESIS DISORDER 4B, FANCONI ANEMIA, COMPLEMENTATION GROUP A, PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER), PEROXISOME BIOGENESIS DISORDER 8B, ?MITOCHONDRIAL MYOPATHY WITH LACTIC ACIDOSIS, PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER), CARDIOFACIOCUTANEOUS SYNDROME, PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER), METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, DYSAUTONOMIA, FAMILIAL, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 3, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, ?SECKEL SYNDROME 4, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), PEROXISOMAL FATTY ACYL-COA REDUCTASE 1 DISORDER, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 2, PERRAULT SYNDROME 1, PEROXISOME BIOGENESIS DISORDER 3B, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36

PEX12, PEX16, PEX1, PNPLA8, IKBKAP, PEX2, PEX5, HSD17B4, GNPAT, PEX13, AGPS, PPP2R1A, MAP2K2, BRCA1, ABCD4, PEX19, CENPJ, FAR1, PEX6

VERHEIJ SYNDROME, REVESZ SYNDROME, HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, KOWARSKI SYNDROME, MANNOSIDOSIS, ALPHA-, TYPES I AND II, MENTAL RETARDATION, X-LINKED, SYNDROMIC 34, OTOPALATODIGITAL SYNDROME, TYPE II, ACHONDROPLASIA, THANATOPHORIC DYSPLASIA, TYPE I, DIAMOND-BLACKFAN ANEMIA 4, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IA, SELECTIVE T-CELL DEFECT, DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, MULTIPLE ENDOCRINE NEOPLASIA IIB, SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION, PONTOCEREBELLAR HYPOPLASIA, TYPE 1B, ACRODERMATITIS ENTEROPATHICA, CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA AND MICROGNATHIA, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, CEREBRAL AMYLOID ANGIOPATHY, PRNP-RELATED, GERSTMANN-STRAUSSLER DISEASE, CATSHL SYNDROME, DYSAUTONOMIA, FAMILIAL, HOLOPROSENCEPHALY-9, MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, MANDIBULOACRAL DYSPLASIA, IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, BILE ACID MALABSORPTION, PRIMARY, CARPENTER SYNDROME 2, INSOMNIA, FATAL FAMILIAL, COFFIN-LOWRY SYNDROME, SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY, PITUITARY HORMONE DEFICIENCY, COMBINED, 3, BOHRING-OPITZ SYNDROME, DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL, MICROPHTHALMIA, SYNDROMIC 2, WRINKLY SKIN SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, INCONTINENTIA PIGMENTI, LARSEN SYNDROME, HAJDU-CHENEY SYNDROME, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, MENTAL RETARDATION, TRUNCAL OBESITY, RETINAL DYSTROPHY, AND MICROPENIS, SECKEL SYNDROME 7, PSEUDOHYPOALDOSTERONISM TYPE I, AUTOSOMAL DOMINANT, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, CRANIOFRONTONASAL DYSPLASIA, MENTAL RETARDATION, X-LINKED 102, CK SYNDROME, COFFIN-SIRIS SYNDROME 3, MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, ANGELMAN SYNDROME, DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, FLOATING-HARBOR SYNDROME, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), PRADER-WILLI SYNDROME, EIKEN SYNDROME, MUCOPOLYSACCHARIDOSIS TYPE IIID, HARTNUP DISORDER, CARPENTER SYNDROME, BRACHYDACTYLY, TYPE A1, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL, LYSYL HYDROXYLASE 3 DEFICIENCY, IMMUNODEFICIENCY 12, CULLER-JONES SYNDROME, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1, KLEEFSTRA SYNDROME, NOONAN SYNDROME 4, SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE, ?JOUBERT SYNDROME 22, ?ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS AND DIABETES MELLITUS, SKIN FRAGILITY-WOOLLY HAIR SYNDROME, TRIFUNCTIONAL PROTEIN DEFICIENCY, BRACHYDACTYLY, TYPE E2, AYME-GRIPP SYNDROME, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, VAN MALDERGEM SYNDROME 2, MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA), SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, MUENKE SYNDROME, ?FANCONI RENOTUBULAR SYNDROME 3, WIEDEMANN-STEINER SYNDROME, CLOVE SYNDROME, SOMATIC, MUCOPOLYSACCHARIDOSIS VII, AGAMMAGLOBULINEMIA 1, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IT, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, CHOLESTERYL ESTER STORAGE DISEASE, WOLMAN DISEASE, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, NICOLAIDES-BARAITSER SYNDROME, GROWTH HORMONE INSENSITIVITY, PARTIAL, MEIER-GORLIN SYNDROME 2, MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, OGDEN SYNDROME, MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2, CRANIOLENTICULOSUTURAL DYSPLASIA, ?SECKEL SYNDROME 4, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2, BRACHYDACTYLY, TYPE E, GALACTOSIALIDOSIS, TYROSINEMIA, TYPE I, NAIL-PATELLA SYNDROME, IMAGE SYNDROME, ASPARTYLGLUCOSAMINURIA, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, EPIPHYSEAL DYSPLASIA, MULTIPLE, 1, GABA-TRANSAMINASE DEFICIENCY, DESBUQUOIS DYSPLASIA 1, ?MICROHYDRANENCEPHALY, MENKES DISEASE, MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE, SACCHAROPINURIA, PONTOCEREBELLAR HYPOPLASIA, TYPE 10, LATERAL MENINGOCELE SYNDROME, SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IC, ABCD SYNDROME, SHORT-RIB THORACIC DYSPLASIA 8 WITH OR WITHOUT POLYDACTYLY, EHLERS-DANLOS SYNDROME, TYPE VI, NOONAN SYNDROME 7, NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE, METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY, AGAMMAGLOBULINEMIA 3, ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERTRIGLYCERIDEMIA, TRANSIENT INFANTILE, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), MARFAN LIPODYSTROPHY SYNDROME, XERODERMA PIGMENTOSUM, GROUP B, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, OBESITY WITH IMPAIRED PROHORMONE PROCESSING, BRACHYOLMIA TYPE 3, WEILL-MARCHESANI SYNDROME 2, DOMINANT, MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY, CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC, MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, PROTEUS SYNDROME, SOMATIC, BARAITSER-WINTER SYNDROME 1, HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA, ?NARCOLEPSY 1, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, NEPHRONOPHTHISIS 1, JUVENILE, GAUCHER DISEASE, PERINATAL LETHAL, SMED STRUDWICK TYPE, GLYCOGEN STORAGE DISEASE VI, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 29, WEISSENBACHER-ZWEYMULLER SYNDROME, ATELOSTEOGENESIS, TYPE I, ?SECKEL SYNDROME 6, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, DONNAI-BARROW SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, NIJMEGEN BREAKAGE SYNDROME, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 1, MELNICK-NEEDLES SYNDROME, PORPHYRIA, ACUTE HEPATIC, {LEAD POISONING, SUSCEPTIBILITY TO}, WATSON SYNDROME, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, WEAVER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT 2, NEUROFIBROMATOSIS-NOONAN SYNDROME, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 35, ARTHROGRYPOSIS, DISTAL, TYPE 8, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IW, MEIER-GORLIN SYNDROME 1, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, FARBER LIPOGRANULOMATOSIS, LEOPARD SYNDROME 3, MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE), HYPOPHOSPHATASIA, INFANTILE, NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT, FUMARASE DEFICIENCY, PYCNODYSOSTOSIS, ARGININOSUCCINIC ACIDURIA, PSEUDOHYPOPARATHYROIDISM IC, PSEUDOPSEUDOHYPOPARATHYROIDISM, ARTHYRGRYPOSIS, DISTAL, TYPE 2B, ARTHROGRYPOSIS, DISTAL, TYPE 2B, ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 2B, MEIER-GORLIN SYNDROME 5, OSTEOGENESIS IMPERFECTA, TYPE XVII, MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, RENAL CYSTS AND DIABETES SYNDROME, WEILL-MARCHESANI SYNDROME 3, RECESSIVE, IMMUNODEFICIENCY 7, TCR-ALPHA/BETA DEFICIENT, OROFACIODIGITAL SYNDROME IV, ATAXIA-TELANGIECTASIA, ?POLYENDOCRINE-POLYNEUROPATHY SYNDROME, RAINE SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE IV, PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, DIAMOND-BLACKFAN ANEMIA 8, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME-2, CINCA SYNDROME, BRACHYDACTYLY, TYPE A1, C, DYSKERATOSIS CONGENITA, X-LINKED, PARASTREMMATIC DWARFISM, ALAGILLE SYNDROME, EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE, EPIPHYSEAL DYSPLASIA, MULTIPLE, 4, CHONDRODYSPLASIA PUNCTATA, X-LINKED RECESSIVE, IMMUNODEFICIENCY 19, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 3, EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND DEAFNESS, MARTSOLF SYNDROME, PSEUDOHYPOALDOSTERONISM, TYPE I, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2, STRIATONIGRAL DEGENERATION, INFANTILE, ACETYL-COA CARBOXYLASE DEFICIENCY, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY, ACHONDROGENESIS IB, TARSAL-CARPAL COALITION SYNDROME, GAPO SYNDROME, MUCOPOLYSACCHARIDOSIS IH, OPSISMODYSPLASIA, MENTAL RETARDATION, X-LINKED, SYNDROMIC 15 (CABEZAS TYPE), RABSON-MENDENHALL SYNDROME, JOHANSON-BLIZZARD SYNDROME, DIASTROPHIC DYSPLASIA, DIASTROPHIC DYSPLASIA, BROAD BONE-PLATYSPONDYLIC VARIANT, CORTISONE REDUCTASE DEFICIENCY 2, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, FANCONI ANEMIA, COMPLEMENTATION GROUP C, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, DIHYDROPYRIMIDINURIA, SHWACHMAN-DIAMOND SYNDROME, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B, ?INFANTILE LIVER FAILURE SYNDROME 1, PALLISTER-HALL SYNDROME, EVEN-PLUS SYNDROME, TRICHOHEPATOENTERIC SYNDROME 1, MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME, MUSCULAR DYSTROPHY, CONGENITAL, FRUCTOSE INTOLERANCE, MEVALONIC ACIDURIA, NEPHROTIC SYNDROME, TYPE 1, AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS, NOONAN SYNDROME 10, FABRY DISEASE, FABRY DISEASE, CARDIAC VARIANT, SPONDYLOPERIPHERAL DYSPLASIA, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 2, ?MUCOPOLYSACCHARIDOSIS TYPE IX, METAPHYSEAL CHONDRODYSPLASIA, SPAHR TYPE, POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY, ESTROGEN RESISTANCE, RENAL TUBULAR ACIDOSIS, DISTAL, AR, GLYCEROL KINASE DEFICIENCY, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, EPIPHYSEAL CHONDRODYSPLASIA, MIURA TYPE, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, {BARDET-BIEDL SYNDROME 14, MODIFIER OF}, ?BARDET-BIEDL SYNDROME 14, DENTAL ANOMALIES AND SHORT STATURE, HYPOCHONDROPLASIA, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, NEU-LAXOVA SYNDROME 1, BECKWITH-WIEDEMANN SYNDROME, ACROCAPITOFEMORAL DYSPLASIA, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, KRABBE DISEASE, ROBINOW SYNDROME, MENTAL RETARDATION, X-LINKED 19, TRYPSINOGEN DEFICIENCY, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, KOSAKI OVERGROWTH SYNDROME, BLOOM SYNDROME, MUCOPOLYSACCHARIDOSIS, MPS-III-A, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, SECKEL SYNDROME 1, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBL E TYPE, GELEOPHYSIC DYSPLASIA 2, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, BRANCHIOOCULOFACIAL SYNDROME, LETHAL CONGENITAL CONTRACTURAL SYNDROME 3, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), LESCH-NYHAN SYNDROME, HUNTINGTON DISEASE-LIKE 2, DIABETES INSIPIDUS, NEPHROGENIC, 3MC SYNDROME 1, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15, MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY), MITOCHONDRIAL DNA DEPLETION SYNDROME 8B (MNGIE TYPE), HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, TYROSINEMIA, TYPE II, NEPHRONOPHTHISIS 11, STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, BOWEN-CONRADI SYNDROME, CHONDRODYSPLASIA, GREBE TYPE, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, LEGG-CALVE-PERTHES DISEASE, PAGET DISEASE OF BONE 5, JUVENILE-ONSET, ?MICROPHTHALMIA, SYNDROMIC 1, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY, METHYLMALONIC ACIDURIA, MUT(0) TYPE, GAUCHER DISEASE, TYPE III, TRANSCOBALAMIN II DEFICIENCY, {CELIAC DISEASE, SUSCEPTIBILITY TO}, DIAMOND-BLACKFAN ANEMIA 1, GAUCHER DISEASE, TYPE II, MICROVILLUS INCLUSION DISEASE, SJOGREN-LARSSON SYNDROME, LEOPARD SYNDROME 1, WARBURG MICRO SYNDROME 3, BARDET-BIEDL SYNDROME 10, GLYCOGEN STORAGE DISEASE IV, IMMUNODEFICIENCY 15, EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME, CAMURATI-ENGELMANN DISEASE, PSEUDOACHONDROPLASIA, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, DIAMOND-BLACKFAN ANEMIA 5, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, ABDOMINAL OBESITY-METABOLIC SYNDROME 3, MENTAL RETARDATION, X-LINKED 3 (METHYLMALONIC ACIDEMIA AND HOMOCYSTEINEMIA, CBLX TYPE ), GALACTOSE EPIMERASE DEFICIENCY, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT, DIAMOND-BLACKFAN ANEMIA 6, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY, INFANTILE-ONSET MULTISYSTEM NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, ?OSTEOGENESIS IMPERFECTA, TYPE X, GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY, SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE, KLIPPEL-FEIL SYNDROME 4, AUTOSOMAL RECESSIVE, WITH MYOPATHY AND FACIAL DYSMORPHISM, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, WARBURG MICRO SYNDROME 1, MYOTUBULAR MYOPATHY, X-LINKED, ZIMMERMANN-LABAND SYNDROME 1, WERNER SYNDROME, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, ?LICHTENSTEIN-KNORR SYNDROME, WARBURG MICRO SYNDROME 2, METATROPIC DYSPLASIA, MENTAL RETARDATION, AUTOSOMAL DOMINANT 7, OSTEOSCLEROSIS, HYPEROSTOSIS, ENDOSTEAL, ?BARDET-BIEDL SYNDROME 19, ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 11, AMYOTROPHY, HEREDITARY NEURALGIC, LOEYS-DIETZ SYNDROME 2, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, FUCOSIDOSIS, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, PITUITARY HORMONE DEFICIENCY, COMBINED, 6, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, GROWTH HORMONE DEFICIENCY, ISOLATED, TYPE II, SADDAN, DIAMOND-BLACKFAN ANEMIA 9, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, OROTIC ACIDURIA, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER), FANCONI ANEMIA, COMPLEMENTATION GROUP A, OSTEOGENESIS IMPERFECTA, TYPE III, LEPRECHAUNISM, BOOMERANG DYSPLASIA, METAPHYSEAL CHONDRODYSPLASIA, MURK JANSEN TYPE, CONGENITAL SHORT BOWEL SYNDROME, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, ?IMMUNODEFICIENCY 22, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1, {METABOLIC SYNDROME, PROTECTION AGAINST}, PHELAN-MCDERMID SYNDROME, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLF TYPE, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE, FILS SYNDROME, FANCONI RENOTUBULAR SYNDROME 2, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE, ?ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE, CEREBRAL CREATINE DEFICIENCY SYNDROME 3, CHYLOMICRON RETENTION DISEASE, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, STIFF SKIN SYNDROME, CORNELIA DE LANGE SYNDROME 2, CRANIOOSTEOARTHROPATHY, HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE 1, ?DIAMOND-BLACKFAN ANEMIA 11, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, DIAMOND-BLACKFAN ANEMIA 10, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, PEROXISOME BIOGENESIS DISORDER 4B, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, SERKAL SYNDROME, RENAL TUBULAR ACIDOSIS, PROXIMAL, WITH OCULAR ABNORMALITIES, OSTEOGENESIS IMPERFECTA, TYPE I, BEARE-STEVENSON CUTIS GYRATA SYNDROME, AL-RAQAD SYNDROME, ?PRECOCIOUS PUBERTY, CENTRAL, 1, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA, COLE-CARPENTER SYNDROME 1, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA, SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1, OCULOECTODERMAL SYNDROME, PERIVENTRICULAR HETEROTOPIA WITH MICROCEPHALY, SCLEROSTEOSIS 1, OSTEOGENESIS IMPERFECTA, TYPE IX, OSTEOGENESIS IMPERFECTA, TYPE II, COFFIN-SIRIS SYNDROME 4, NETHERTON SYNDROME, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, COENZYME Q10 DEFICIENCY, PRIMARY, 5, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, CITRULLINEMIA, IMMUNODEFICIENCY DUE TO PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY, LEUKODYSTROPHY, HYPOMYELINATING, 12, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ATELEIOTIC DWARFISM, ?IMMUNODEFICIENCY, COMMON VARIABLE, 11, MARINESCO-SJOGREN SYNDROME, TRICHOHEPATOENTERIC SYNDROME 2, GROWTH HORMONE DEFICIENCY, ISOLATED PARTIAL, NIEMANN-PICK DISEASE, TYPE B, LEIGH SYNDROME, FRENCH-CANADIAN TYPE, ?CHARGE SYNDROME, CHARGE SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IB, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, CORNELIA DE LANGE SYNDROME 1, RENAL TUBULAR ACIDOSIS, DISTAL, AD, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, LOEYS-DIETZ SYNDROME 1, PARKINSON DISEASE 4, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, CITRULLINEMIA, TYPE II, NEONATAL-ONSET, SMITH-MCCORT DYSPLASIA 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIJ, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC, NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY, SESAME SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SINGLETON-MERTEN SYNDROME 2, SEIZURES, CORTICAL BLINDNESS, MICROCEPHALY SYNDROME, 46XY SEX REVERSAL 6, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, HYPERMETHIONINEMIA WITH DEFICIENCY OF S-ADENOSYLHOMOCYSTEINE HYDROLASE, ?SECKEL SYNDROME 8, EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1, HYPOTHYROIDISM, CENTRAL, AND TESTICULAR ENLARGEMENT, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, MYHRE SYNDROME, LISSENCEPHALY 4 (WITH MICROCEPHALY), STUVE-WIEDEMANN SYNDROME/SCHWARTZ-JAMPEL TYPE 2 SYNDROME, SHORT STATURE WITH NONSPECIFIC SKELETAL ABNORMALITIES, OROFACIODIGITAL SYNDROME I, CARBAMOYLPHOSPHATE SYNTHETASE I DEFICIENCY, ACROMICRIC DYSPLASIA, ?PONTOCEREBELLAR HYPOPLASIA, TYPE 3, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, MICROSPHEROPHAKIA AND/OR MEGALOCORNEA, WITH ECTOPIA LENTIS AND WITH OR WITHOUT SECONDARY GLAUCOMA, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, AARSKOG-SCOTT SYNDROME, MENTAL RETARDATION, X-LINKED SYNDROMIC 16, APERT SYNDROME, PANCREATIC LIPASE DEFICIENCY, NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE, MASA SYNDROME, CRASH SYNDROME, EXOSTOSES, MULTIPLE, TYPE 2, BRACHYDACTYLY, TYPE D, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, LEUKODYSTROPHY, HYPOMYELINATING, 3, TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE, RETINITIS PIGMENTOSA 71, CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES, ?NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE-DAGHER-MELIKE TYPE, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 51, ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, ?MICROPHTHALMIA, SYNDROMIC 13, SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2, RITSCHER-SCHINZEL SYNDROME 2, THANATOPHORIC DYSPLASIA, TYPE II, HETEROTAXY, VISCERAL, 5, CEREBELLAR HYPOPLASIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDAL LOCOMOTION 1, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, MULTIPLE SULFATASE DEFICIENCY, MEDNIK SYNDROME, CZECH DYSPLASIA, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT SYNDROME, DIAMOND BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS, LYSINURIC PROTEIN INTOLERANCE, CEREBRAL DYSGENESIS, NEUROPATHY, ICHTHYOSIS, AND PALMOPLANTAR KERATODERMA SYNDROME, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, COACH SYNDROME, MICROCEPHALY 1, PRIMARY, AUTOSOMAL RECESSIVE, CEREBROCOSTOMANDIBULAR SYNDROME, PONTOCEREBELLAR HYPOPLASIA TYPE 1A, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, INTERSTITIAL LUNG AND LIVER DISEASE, MUCOLIPIDOSIS III GAMMA, ZIMMERMANN-LABAND SYNDROME 2, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, TRANSALDOLASE DEFICIENCY, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE, CARDIOFACIOCUTANEOUS SYNDROME, STICKLER SYNDROME, TYPE I, HUTCHINSON-GILFORD PROGERIA, MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 1, OSTEOGENESIS IMPERFECTA, TYPE VIII, BARDET-BIEDL SYNDROME 3, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, ULNAR-MAMMARY SYNDROME, GLYCOGEN STORAGE DISEASE XII, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13, PSEUDOHYPOPARATHYROIDISM IA, MENTAL RETARDATION, AUTOSOMAL DOMINANT 21, DIAPHANOSPONDYLODYSOSTOSIS, NESTOR-GUILLERMO PROGERIA SYNDROME, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IV, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2, TATTON-BROWN-RAHMAN SYNDROME, NEUROPATHY, HEREDITARY SENSORY, TYPE IIC, DESMOSTEROLOSIS, ?SPASTIC PARAPLEGIA 63, PERRY SYNDROME, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), RICKETS, VITAMIN D-RESISTANT, TYPE IIA, RUBINSTEIN-TAYBI SYNDROME, METHEMOGLOBINEMIA, TYPE II, METHEMOGLOBINEMIA, TYPE I, SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3, PYRIDOXAMINE 5'-PHOSPHATE OXIDASE DEFICIENCY, PYRUVATE KINASE DEFICIENCY, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 4, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, BRUCK SYNDROME 2, SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, FUHRMANN SYNDROME, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3, WITH RENAL TUBULAR ACIDOSIS, ALKAPTONURIA, GLUCOSE/GALACTOSE MALABSORPTION, NEU-LAXOVA SYNDROME 2, ARTHROGRYPOSIS, DISTAL, TYPE 2A, MUCOPOLYSACCHARIDOSIS IVA, MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE), KEUTEL SYNDROME, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IF, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE, METAPHYSEAL ANADYSPLASIA 1, CARNITINE DEFICIENCY, SYSTEMIC PRIMARY, WEILL-MARCHESANI SYNDROME 1, RECESSIVE, ?MENTAL RETARDATION, X-LINKED, SYNDROMIC 11, SHASHI TYPE, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, CORPUS CALLOSUM AGENESIS, VAN MALDERGEM SYNDROME 1, ARGININEMIA, THYROID DYSHORMONOGENESIS 1, PANCREATIC AGENESIS 1, BARTTER SYNDROME, TYPE 1, OSTEOGLOPHONIC DYSPLASIA, NIEMANN-PICK DISEASE, TYPE A, SPONDYLOEPIPHYSEAL DYSPLASIA, KIMBERLEY TYPE, SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES, LOWE SYNDROME, ?BARDET-BIEDL SYNDROME 11, GM1-GANGLIOSIDOSIS, TYPE I, CORNELIA DE LANGE SYNDROME 4, OTOPALATODIGITAL SYNDROME, TYPE I, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, SECKEL SYNDROME 5, ?MYOSCLEROSIS, CONGENITAL, SED CONGENITA, KNIEST DYSPLASIA, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, MENTAL RETARDATION, AUTOSOMAL DOMINANT 1, RESTRICTIVE DERMOPATHY, LETHAL, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, MACROCEPHALY/AUTISM SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE XIII, SPONDYLOCOSTAL DYSOSTOSIS 1, AUTOSOMAL RECESSIVE, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, HYPERPARATHYROIDISM, NEONATAL, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), JOUBERT SYNDROME 8, FANCONI ANEMIA, COMPLEMENTATION GROUP D1, CHILD SYNDROME, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBLG COMPLEMENTATION TYPE, SECKEL SYNDROME 9, HYPERTHYROIDISM, NONAUTOIMMUNE, POPLITEAL PTERYGIUM SYNDROME, BARTSOCAS-PAPAS TYPE, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, ENCEPHALOPATHY, NEONATAL SEVERE, EHLERS-DANLOS SYNDROME, TYPE IV, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE, MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE), RENPENNING SYNDROME, SPONDYLOCOSTAL DYSOSTOSIS 5, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2, ANDROGEN INSENSITIVITY, LEUKODYSTROPHY, HYPOMYELINATING, 6, WOLCOTT-RALLISON SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12, DIABETES INSIPIDUS, NEPHROGENIC, PEELING SKIN SYNDROME 1, PREMATURE AGING SYNDROME, PENTTINEN TYPE, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, HYPOPHOSPHATASIA, CHILDHOOD, SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY, PONTOCEREBELLAR HYPOPLASIA, TYPE 8, MENTAL RETARDATION, X-LINKED SYNDROMIC, CHRISTIANSON TYPE, THYROTROPIN-RELEASING HORMONE DEFICIENCY, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, PHOSPHORYLASE KINASE DEFICIENCY OF LIVER AND MUSCLE, AUTOSOMAL RECESSIVE, GM1-GANGLIOSIDOSIS, TYPE III, SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B-CELL/NATURAL KILLER-CELL POSITIVE, SEVERE COMBINED IMMUNODEFICIENCY, T-CELL NEGATIVE, B-CELL/NATURAL KILLER CELL-POSITIVE TYPE, JOUBERT SYNDROME 18, MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, CRANIOFACIAL DYSMORPHISM, AND CONGENITAL HEART DEFECTS, DYSTONIA, DOPA-RESPONSIVE, DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY, MECKEL SYNDROME 4, HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, DIAMOND-BLACKFAN ANEMIA 7, HAWKINSINURIA, CYSTINOSIS, ATYPICAL NEPHROPATHIC, CYSTINOSIS, NEPHROPATHIC, MUCOPOLYSACCHARIDOSIS IH/S, MOLYBDENUM COFACTOR DEFICIENCY B, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 6, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, ERYTHRODERMA, CONGENITAL, WITH PALMOPLANTAR KERATODERMA, HYPOTRICHOSIS, AND HYPER IGE, SIALURIA, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY,; LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY,; LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY,; ?LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, DENT DISEASE 2, SMITH-KINGSMORE SYNDROME

CA2, DNA2, PLOD3, SLC5A5, TCTN3, LMNA, EPCAM, GNAS, CIITA, GLI3, COL3A1, RPL5, GUSB, PCYT1A, CDC6, CLMP, LHX3, NOG, DST, PTRH2, FH, SEC23A, PNPO, ARSE, SLC4A4, ACACA, CREBBP, GNE, HGD, GTPBP3, DYNC2H1, HYAL1, NONO, PHKB, VLDLR, FGFR3, SOX2, CHMP1A, AR, P4HB, CD79A, THRA, CBS, BUB1B, ABAT, ASAH1, TAF6, AGRP, PGM1, ALAD, MEGF8, DSP, NR1I3, TALDO1, COMP, SUCLA2, HNF4A, SGSH, BMP1, ROR2, RPS10, NDUFA1, KRAS, TNNT2, GPD1, ADRB3, TP63, CYB5R3, NDUFA10, SEPT9, SLC12A1, GATA1, MAN1B1, BANF1, CCDC22, ALDOA, AGL, DDR2, NDUFS3, HNF1B, LTBP3, CTSK, CHST14, TAF1, CEP290, IGHM, HDAC6, LRP5, LAMA3, NDUFS7, PQBP1, NUP62, PPP2R1A, CHRNA1, AKT1, RIPK4, INPPL1, PPIB, LRPPRC, SLC5A1, UBE3A, EZH2, TWIST1, NSDHL, PEX13, ZBTB16, HSPA9, ORC1, EFNB1, MBD5, ECHS1, POMC, NOD2, MTM1, POLA1, TAT, CUL4B, PIGA, SLC2A1, FGF23, SLC9A1, MASP1, LAMC2, NPHP1, FAT4, PTPN11, PDE4D, IFT27, HADHB, TSR2, VPS11, SRCAP, HMGB3, PDGFRB, DMXL2, ZMPSTE24, VIPAS39, SNRPB, BCOR, CTNS, GHRL, EGFR, DHCR24, POLR3B, KRT14, PPP1R15B, ALB, HPD, MALT1, GH1, PEX5, NDUFS2, DNM2, RPS26, KMT2A, TRAIP, MMP1, NAA10, MT-CO2, ACTB, SEMA3E, MOCS2, RPS7, COL1A2, DGUOK, JPH3, AP4B1, COL11A2, UBE2A, IDUA, MYH7, NDUFS4, LRBA, ASPM, CDK5RAP2, NPR2, PROK2, GDF5, MT-CO3, NBN, SOS1, GALNS, PRF1, RRM2B, INPP5E, NRAS, HSD11B1, RBCK1, IKBKAP, IL2RG, CLP1, KIF1A, OCRL, SHOC2, RPS28, TNNT3, SLC26A2, ALDOB, MAP2K2, TFAP2A, CYP7B1, NME1, MPI, PYGL, PKLR, ERCC3, TTC37, GNS, FGFR1, P3H1, EHHADH, MYO18B, KIF5C, ESR1, GK, EARS2, PTH1R, VPS33B, GPX4, SOX9, HPRT1, SLC6A19, CARTPT, NLRC4, FANCA, RAB18, PLOD2, STAT3, BRAF, SLC26A3, AKR1D1, LAMB3, MC4R, ORC4, ALPL, GNPTG, NDUFB3, MT-ATP6, IGF1, KRT5, SMAD9, TCN2, UBR1, CTCF, DCHS1, MCPH1, NIN, ALDH3A2, EDNRB, NDN, TNFRSF11B, GBE1, PCSK1, DVL1, MUT, COQ9, LIPA, ITPA, LRP2, IKBKB, CASP8, SMC1A, SNCA, SARS2, PRSS1, QDPR, ABCB11, MAF, ANTXR1, TUBB4A, MT-ND3, CENPJ, AGPAT2, NDUFV1, OTC, VDR, COL6A2, VPS45, DYRK1A, NODAL, JAGN1, AQP2, B3GAT3, TGFB1, SLC39A4, SOST, PIP5K1C, DDX58, MTR, EMG1, PCLO, STAT1, MAP3K1, SLC34A1, NOTCH2, COL6A3, NDUFB9, NIPBL, WDR60, PIK3R1, OFD1, PCNA, COG4, AGA, DHFR, TMEM67, SLC10A2, ARL13B, MGP, HSPG2, FCGR2A, HPGD, C10orf2, MTOR, PDX1, DYRK1B, PLEC, CD3D, ADRB2, RAD21, BRCA2, IGBP1, IKBKG, CTSA, EFTUD2, ATP6V1B2, AGT, PMM2, LEP, TRAPPC2, KDM1A, PSAT1, RBMX, WNT5A, NEB, DPYS, CDKN1C, PDE6D, PNPLA2, FANCM, PIK3CA, LTBP4, BMPER, JAG1, SBDS, GRID2, COL2A1, NF1, NUBPL, ACTA1, VRK1, SMARCA4, CBL, SCNN1G, LZTR1, KCNH1, IGF2, NOS3, IL21, SHANK3, SCNN1A, MSMO1, HADHA, CEP152, PLOD1, PSMB8, PNPT1, MMP13, SDC3, SLC25A13, SPARC, TMEM173, TSHR, GSC, IRF8, RPS6KA3, STAMBP, INS, PAM16, PIK3R2, DLL3, FAM20C, DDX3X, SMPD1, SDHD, SLC22A5, LMX1B, HLA-DRB1, CNTN1, PEX6, RAB33B, GNA11, SLC9A6, RAPSN, ARL6, KIF1B, LTBP2, BRCA1, PTHLH, FLNB, SMS, KLF1, AIMP1, BMPR1A, ATP5A1, PHGDH, DCTN1, IHH, POLD1, DSG1, ACD, TERT, NDUFA9, RPS19, PTEN, TRPV4, MTTP, POLG2, CFTR, EHMT1, FAH, SSR4, ASXL1, SMARCB1, MT-ND4, PUF60, ABCA3, KCNJ10, JAK3, ATP7A, DKC1, POLE, GATM, DNMT3A, GBA, SUCLG1, RAB3GAP1, ABCC9, GATA6, CACNA1S, RPL26, LAMTOR2, TRH, DCPS, HNMT, ABCC8, HRAS, POLG, EIF2AK3, SFTPC, OCLN, ZAP70, NDUFB11, COL7A1, TINF2, TUFM, ARSB, PNLIP, FUCA1, MPC1, HCRT, IGSF1, COL1A1, ST14, ZBTB24, PIGT, ACP5, GLB1, TBX3, PPARG, COL5A1, OTX2, PRKAR1A, KISS1R, CDSN, BTK, MAN2B1, RAB3GAP2, AARS, CLASP1, NEU1, TRIM32, EFEMP2, ERCC2, FGD1, SMAD4, UMPS, BLM, HLA-DQA1, DNMT3B, ATP6V0A2, WNT4, GRM1, WNT7A, DVL3, STT3A, FBLN5, GLI2, WRN, SCNN1B, IFT172, GCH1, IL6, COL6A1, TPM3, GHSR, TRMT10A, CEP63, AKT2, ARFGEF2, LIFR, CANT1, GLA, ASS1, TPM2, AVPR2, TGFBR1, SLC4A1, AP1S1, NDUFA2, NR3C2, NOTCH3, SF3B4, SLC7A7, HCFC1, PTPRC, SPATA5, ARG1, PAX8, LARS, GPC3, GJA1, SMARCA2, FTCD, MYH3, BCS1L, SPR, PEX19, MECP2, MVK, ACAN, CASR, GCK, MYO5B, BBS10, NDE1, GALE, PRKDC, EXT2, NDUFS1, MRPL3, PLK4, IGF1R, RPS17, SPINK5, AASS, MCM4, ITCH, MPDU1, SIL1, MUSK, ADA, SNAP29, DDOST, TRAC, LMBRD1, SKIV2L, RUNX2, SUMF1, LCK, FLNA, NR0B2, RAB23, TUBGCP6, HCCS, BMPR1B, ASL, PRNP, RPL35A, ATM, SPG11, CASK, NLRP3, PRKACA, INSR, GALC, NOTCH1, SERPINH1, DIAPH1, CPS1, FGFR2, NPHS1, MARS, RPL11, FANCC, L1CAM, FBN1, RET, TBX6, PNP, HACE1, HOXD13, EXOSC3, AMPD2, DNAJC3, SAR1B, MYH11, MT-ND1, ATR, AHCY, TGFBR2, MTRR, RYR1, SHH

REVESZ SYNDROME, BARAITSER-WINTER SYNDROME 1, THANATOPHORIC DYSPLASIA, TYPE II, EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME, ?LICHTENSTEIN-KNORR SYNDROME, MANNOSIDOSIS, ALPHA-, TYPES I AND II, MULTIPLE SULFATASE DEFICIENCY, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ACHONDROPLASIA, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, THANATOPHORIC DYSPLASIA, TYPE I, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DONNAI-BARROW SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, NEUROFIBROMATOSIS-NOONAN SYNDROME, SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION, CAMURATI-ENGELMANN DISEASE, FARBER LIPOGRANULOMATOSIS, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, GLYCOGEN STORAGE DISEASE XII, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, FUCOSIDOSIS, ARTHYRGRYPOSIS, DISTAL, TYPE 2B, ARTHROGRYPOSIS, DISTAL, TYPE 2B, ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 2B, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 1, SADDAN, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), ARTHROGRYPOSIS, DISTAL, TYPE 8, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, MICROVILLUS INCLUSION DISEASE, CATSHL SYNDROME, ANGELMAN SYNDROME, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), ARTHROGRYPOSIS, DISTAL, TYPE 2A, CITRULLINEMIA, MUCOPOLYSACCHARIDOSIS IH, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, KRABBE DISEASE, GALACTOSIALIDOSIS, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, CARPENTER SYNDROME, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE, MEDNIK SYNDROME, GM1-GANGLIOSIDOSIS, TYPE I, ?ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS AND DIABETES MELLITUS, CORNELIA DE LANGE SYNDROME 4, NEPHROTIC SYNDROME, TYPE 1, COFFIN-SIRIS SYNDROME 4, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, ?DYSTONIA, JUVENILE-ONSET, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, FABRY DISEASE, FABRY DISEASE, CARDIAC VARIANT, CLOVE SYNDROME, SOMATIC, MUCOPOLYSACCHARIDOSIS TYPE IIID, ?MUCOPOLYSACCHARIDOSIS TYPE IX, ESTROGEN RESISTANCE, MUENKE SYNDROME, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, HYPERPARATHYROIDISM, NEONATAL, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9, HYPOCHONDROPLASIA, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ROBINOW SYNDROME, PARKINSON DISEASE 4, ASPARTYLGLUCOSAMINURIA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, 46XY SEX REVERSAL 6, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, DIABETES INSIPIDUS, NEPHROGENIC, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, WATSON SYNDROME, GM1-GANGLIOSIDOSIS, TYPE III, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, TYROSINEMIA, TYPE II, AGAMMAGLOBULINEMIA 3, CHOLESTERYL ESTER STORAGE DISEASE, WOLMAN DISEASE, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, CYSTINOSIS, ATYPICAL NEPHROPATHIC, CYSTINOSIS, NEPHROPATHIC, MUCOPOLYSACCHARIDOSIS IH/S, IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, MASA SYNDROME, CRASH SYNDROME, CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

PCNA, TAT, FUCA1, NME1, GLB1, TAF1, PPARG, SLC9A1, GJA1, RAB23, CBL, ADRB2, HYAL1, EGFR, MYH3, RAD21, PRF1, DVL3, SMARCA4, MYH7, TGFB1, PIK3CA, NOS3, ARSB, STAT1, HDAC6, DVL1, CASR, MYO5B, AGT, GNS, MTOR, HLA-DRB1, ASAH1, TP63, MAP3K1, IRF8, GALC, CTSA, BRCA1, NPHS1, AKT1, BTK, LRBA, GTPBP3, ESR1, ALDOA, MRPL3, MAN2B1, UBE3A, ASS1, GLA, ASPM, VPS33B, L1CAM, LRP2, CD79A, NEU1, IL6, AGA, AP1S1, AQP2, HRAS, CTNS, LIPA, SNCA, DNAJC3, SFTPB, ADA, ACTB, POLR3B, FGFR3, IGF1, ALB, HSPG2, STAT3, ACP5, CFTR, IDUA, TINF2, SPATA5, INS, TUFM, SUMF1, NF1

VERHEIJ SYNDROME, GLYCOGEN STORAGE DISEASE IC, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, ?NARCOLEPSY 7, MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2, MENTAL RETARDATION, X-LINKED, SYNDROMIC 34, OTOPALATODIGITAL SYNDROME, TYPE II, BARTTER SYNDROME, TYPE 2, ACHONDROPLASIA, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8, THANATOPHORIC DYSPLASIA, TYPE I, DIAMOND-BLACKFAN ANEMIA 4, METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE, DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, MULTIPLE ENDOCRINE NEOPLASIA IIB, SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IX, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2, GLUTARICACIDURIA, TYPE I, ACRODERMATITIS ENTEROPATHICA, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, COLE-CARPENTER SYNDROME 2, HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, 3-METHYLCROTONYL-COA CARBOXYLASE 1 DEFICIENCY, CEREBRAL AMYLOID ANGIOPATHY, PRNP-RELATED, GERSTMANN-STRAUSSLER DISEASE, MENTAL RETARDATION, AUTOSOMAL DOMINANT 35, CATSHL SYNDROME, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, BARDET-BIEDL SYNDROME 17, HOLOPROSENCEPHALY-9, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, ?MICROHYDRANENCEPHALY, SALLA DISEASE, KENNY-CAFFEY SYNDROME, TYPE 1, LARON DWARFISM, EXOSTOSES, MULTIPLE, TYPE 1, MANDIBULOACRAL DYSPLASIA, IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE, WARSAW BREAKAGE SYNDROME, ?MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7, INSOMNIA, FATAL FAMILIAL, COFFIN-LOWRY SYNDROME, PITUITARY HORMONE DEFICIENCY, COMBINED, 3, PSEUDOHYPOPARATHYROIDISM IC, CEREBRAL CREATINE DEFICIENCY SYNDROME 3, MEND SYNDROME, RAPADILINO SYNDROME, BECKWITH-WIEDEMANN SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IK, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, INCONTINENTIA PIGMENTI, LARSEN SYNDROME, HAJDU-CHENEY SYNDROME, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, HYPERCHLORHIDROSIS, ISOLATED, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 53, MENTAL RETARDATION, TRUNCAL OBESITY, RETINAL DYSTROPHY, AND MICROPENIS, MICROVILLUS INCLUSION DISEASE, PSEUDOHYPOALDOSTERONISM TYPE I, AUTOSOMAL DOMINANT, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, CRANIOFRONTONASAL DYSPLASIA, IMMUNODEFICIENCY 17, CD3 GAMMA DEFICIENT, MENTAL RETARDATION, X-LINKED 102, ROTHMUND-THOMSON SYNDROME, KBG SYNDROME, MARTSOLF SYNDROME, FRANK-TER HAAR SYNDROME, MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, FANCONI-BICKEL SYNDROME, ANGELMAN SYNDROME, DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, FLOATING-HARBOR SYNDROME, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), PRADER-WILLI SYNDROME, PONTOCEREBELLAR HYPOPLASIA, TYPE 2E, EIKEN SYNDROME, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 19, CITRULLINEMIA, WOLFRAM SYNDROME, HARTNUP DISORDER, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1, PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER), CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIN, DIABETES MELLITUS, TRANSIENT NEONATAL, 1, {DIABETES MELLITUS, TRANSIENT NEONATAL}, CARPENTER SYNDROME, CHIME SYNDROME, BRACHYDACTYLY, TYPE A1, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, LETHAL CONGENITAL CONTRACTURE SYNDROME 9, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL, LYSYL HYDROXYLASE 3 DEFICIENCY, IMMUNODEFICIENCY 12, PARKINSON DISEASE 4, CULLER-JONES SYNDROME, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, LUSCAN-LUMISH SYNDROME, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1, ?RETINAL DYSTROPHY AND OBESITY, KLEEFSTRA SYNDROME, NESTOR-GUILLERMO PROGERIA SYNDROME, GALACTOSE EPIMERASE DEFICIENCY, ?JOUBERT SYNDROME 22, ?ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS AND DIABETES MELLITUS, SKIN FRAGILITY-WOOLLY HAIR SYNDROME, TRIFUNCTIONAL PROTEIN DEFICIENCY, CRANIOMETAPHYSEAL DYSPLASIA, BRACHYDACTYLY, TYPE E2, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42, HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, ?WEBB-DATTANI SYNDROME, ARTHROGRYPOSIS, DISTAL, TYPE 2A, WARBURG MICRO SYNDROME 4, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ?MECKEL SYNDROME 12, ?FANCONI RENOTUBULAR SYNDROME 3, WIEDEMANN-STEINER SYNDROME, CLOVE SYNDROME, SOMATIC, ?N-ACETYLASPARTATE DEFICIENCY, MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 8, MICROPHTHALMIA, SYNDROMIC 9, MUCOPOLYSACCHARIDOSIS VII, ?SPLIT-HAND/FOOT MALFORMATION 1 WITH SENSORINEURAL HEARING LOSS, PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER), AGAMMAGLOBULINEMIA 1, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IT, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, BRACHYDACTYLY, TYPE E, SCHNECKENBECKEN DYSPLASIA, MUENKE SYNDROME, OPITZ-KAVEGGIA SYNDROME, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, PONTOCEREBELLAR HYPOPLASIA, TYPE 1B, NICOLAIDES-BARAITSER SYNDROME, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, GROWTH HORMONE INSENSITIVITY, PARTIAL, MEIER-GORLIN SYNDROME 2, BARTTER SYNDROME, TYPE 4B, DIGENIC, CORNELIA DE LANGE SYNDROME 5, MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6, OGDEN SYNDROME, MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2, CRANIOLENTICULOSUTURAL DYSPLASIA, ?SECKEL SYNDROME 4, HYPOTHYROIDISM, CONGENITAL NONGOITROUS, 5, CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA AND MICROGNATHIA, DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, LEBER CONGENITAL AMAUROSIS 1, BARTH SYNDROME, GALACTOSIALIDOSIS, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES, TYROSINEMIA, TYPE I, MUCOLIPIDOSIS III ALPHA/BETA, NAIL-PATELLA SYNDROME, IMAGE SYNDROME, MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, DESBUQUOIS DYSPLASIA 1, MENTAL RETARDATION, X-LINKED 72, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIK, MENKES DISEASE, MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE, CORPUS CALLOSUM AGENESIS, HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, MUSCULAR DYSTROPHY, RIGID SPINE, 1, SACCHAROPINURIA, OSTEOGENESIS IMPERFECTA, TYPE XI, PONTOCEREBELLAR HYPOPLASIA, TYPE 10, LATERAL MENINGOCELE SYNDROME, TARP SYNDROME, SIALIC ACID STORAGE DISORDER, INFANTILE, SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE, ?MICROCEPHALY 16, PRIMARY, AUTOSOMAL RECESSIVE, HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT, ABCD SYNDROME, GLUCOCORTICOID DEFICIENCY, DUE TO ACTH UNRESPONSIVENESS, OSTEOGENESIS IMPERFECTA, TYPE XVII, NOONAN SYNDROME 7, NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE ID, METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY, OSTEOGENESIS IMPERFECTA, TYPE XV, AGAMMAGLOBULINEMIA 3, ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERTRIGLYCERIDEMIA, TRANSIENT INFANTILE, MARTIN-PROBST DEAFNESS-MENTAL RETARDATION SYNDROME, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), MARFAN LIPODYSTROPHY SYNDROME, CHONDRODYSPLASIA PUNCTATA, X-LINKED DOMINANT, XERODERMA PIGMENTOSUM, GROUP B, OBESITY WITH IMPAIRED PROHORMONE PROCESSING, BRACHYOLMIA TYPE 3, EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 1, WEILL-MARCHESANI SYNDROME 2, DOMINANT, MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY, ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC, MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, PROTEUS SYNDROME, SOMATIC, MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED, HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA, SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE, ?NARCOLEPSY 1, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, COCKAYNE SYNDROME, TYPE A, GAUCHER DISEASE, PERINATAL LETHAL, SMED STRUDWICK TYPE, GLYCOGEN STORAGE DISEASE VI, PERRAULT SYNDROME 1, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 29, WEISSENBACHER-ZWEYMULLER SYNDROME, ATELOSTEOGENESIS, TYPE I, ?SECKEL SYNDROME 6, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, DONNAI-BARROW SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, NIJMEGEN BREAKAGE SYNDROME, 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 1, SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME, MELNICK-NEEDLES SYNDROME, MYHRE SYNDROME, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, COLE-CARPENTER SYNDROME 1, WEAVER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT 2, PEROXISOMAL FATTY ACYL-COA REDUCTASE 1 DISORDER, D-BIFUNCTIONAL PROTEIN DEFICIENCY, ARTHROGRYPOSIS, DISTAL, TYPE 8, ?PONTOCEREBELLAR HYPOPLASIA, TYPE 3, MEIER-GORLIN SYNDROME 1, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, FARBER LIPOGRANULOMATOSIS, LEOPARD SYNDROME 3, MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE), COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 17, HYPOPHOSPHATASIA, INFANTILE, MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE), NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT, FUMARASE DEFICIENCY, MUCOLIPIDOSIS II ALPHA/BETA, PYCNODYSOSTOSIS, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, STORMORKEN SYNDROME, PSEUDOHYPOPARATHYROIDISM IA, MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE), PSEUDOPSEUDOHYPOPARATHYROIDISM, ARTHYRGRYPOSIS, DISTAL, TYPE 2B, ARTHROGRYPOSIS, DISTAL, TYPE 2B, ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 2B, MEIER-GORLIN SYNDROME 5, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 46, SESAME SYNDROME, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, RENAL CYSTS AND DIABETES SYNDROME, IMMUNODEFICIENCY 7, TCR-ALPHA/BETA DEFICIENT, SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY, ATAXIA-TELANGIECTASIA, ?POLYENDOCRINE-POLYNEUROPATHY SYNDROME, {AUTISM, SUSCEPTIBILITY TO, 18}, OSTEOGENESIS IMPERFECTA, TYPE IV, PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, BILE ACID MALABSORPTION, PRIMARY, OMODYSPLASIA 1, FOLATE MALABSORPTION, HEREDITARY, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, C SYNDROME, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, CUTIS LAXA, AUTOSOMAL DOMINANT 3, DIAMOND-BLACKFAN ANEMIA 8, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME-2, ?MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3, MULIBREY NANISM, BRACHYDACTYLY, TYPE A1, C, DYSKERATOSIS CONGENITA, X-LINKED, PARASTREMMATIC DWARFISM, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4, NOONAN SYNDROME 9, EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE, EPIPHYSEAL DYSPLASIA, MULTIPLE, 4, CHONDRODYSPLASIA PUNCTATA, X-LINKED RECESSIVE, SHORT STATURE WITH NONSPECIFIC SKELETAL ABNORMALITIES, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 3, ?MITOCHONDRIAL MYOPATHY WITH LACTIC ACIDOSIS, FANCONI ANEMIA, COMPLEMENTATION GROUP O, EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND DEAFNESS, CK SYNDROME, COFFIN-SIRIS SYNDROME 3, PSEUDOHYPOALDOSTERONISM, TYPE I, STRIATONIGRAL DEGENERATION, INFANTILE, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2, ACETYL-COA CARBOXYLASE DEFICIENCY, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 11, ACHONDROGENESIS IB, TARSAL-CARPAL COALITION SYNDROME, OLIVER-MCFARLANE SYNDROME, MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY, OPSISMODYSPLASIA, MENTAL RETARDATION, X-LINKED, SYNDROMIC 15 (CABEZAS TYPE), RABSON-MENDENHALL SYNDROME, SPONDYLO-MEGAEPIPHYSEAL-METAPHYSEAL DYSPLASIA, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIL, JOHANSON-BLIZZARD SYNDROME, DIASTROPHIC DYSPLASIA, DIASTROPHIC DYSPLASIA, BROAD BONE-PLATYSPONDYLIC VARIANT, TROYER SYNDROME, CORTISONE REDUCTASE DEFICIENCY 2, WHITE-SUTTON SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IM, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, FANCONI ANEMIA, COMPLEMENTATION GROUP C, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, NEPHRONOPHTHISIS 1, JUVENILE, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 2, NOONAN SYNDROME 8, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B, ?INFANTILE LIVER FAILURE SYNDROME 1, HYPERANDROGENISM, NONCLASSIC TYPE, DUE TO 21-HYDROXYLASE DEFICIENCY, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY, PALLISTER-HALL SYNDROME, EVEN-PLUS SYNDROME, TRICHOHEPATOENTERIC SYNDROME 1, MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME, ?RETINAL DYSTROPHY, JUVENILE CATARACTS, AND SHORT STATURE SYNDROME, PEROXISOME BIOGENESIS DISORDER 3B, ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, NEPHROTIC SYNDROME, TYPE 1, ?OSTEOGENESIS IMPERFECTA, TYPE XII, AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS, MECKEL SYNDROME 1, ?PRECOCIOUS PUBERTY, CENTRAL, 1, NOONAN SYNDROME 10, LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, HELSMOORTEL-VAN DER AA SYNDROME, GLYCEROL KINASE DEFICIENCY, MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 1, BOHRING-OPITZ SYNDROME, SPONDYLOPERIPHERAL DYSPLASIA, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 2, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBL E TYPE, METAPHYSEAL CHONDRODYSPLASIA, SPAHR TYPE, MUSCULAR DYSTROPHY, CONGENITAL, POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY, ESTROGEN RESISTANCE, ALAZAMI SYNDROME, ANDERSEN SYNDROME, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 2, DESBUQUOIS DYSPLASIA 2, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, EPIPHYSEAL CHONDRODYSPLASIA, MIURA TYPE, ELLIS-VAN CREVELD SYNDROME, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, ALAGILLE SYNDROME, OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS, HYPOCHONDROPLASIA, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, ?IMMUNODEFICIENCY 22, WEYERS ACROFACIAL DYSOSTOSIS, WEYERS ACRODENTAL DYSOSTOSIS, ACROCAPITOFEMORAL DYSPLASIA, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MENTAL RETARDATION, X-LINKED 19, CHOPS SYNDROME, ?DIARRHEA 7, LOEYS-DIETZ SYNDROME 5, ?ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, CEREBELLOFACIODENTAL SYNDROME, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, KOSAKI OVERGROWTH SYNDROME, BARDET-BIEDL SYNDROME 5, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2, MUCOPOLYSACCHARIDOSIS, MPS-III-A, PEROXISOME BIOGENESIS DISORDER 8B, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, ESCOBAR SYNDROME, HYPERLIPOPROTEINEMIA, TYPE 1D, GELEOPHYSIC DYSPLASIA 2, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, DURSUN SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 4, AUTOSOMAL RECESSIVE, BRANCHIOOCULOFACIAL SYNDROME, LETHAL CONGENITAL CONTRACTURAL SYNDROME 3, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), DIABETES INSIPIDUS, NEPHROGENIC, RETT SYNDROME, CONGENITAL VARIANT, 3MC SYNDROME 1, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15, MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY), MITOCHONDRIAL DNA DEPLETION SYNDROME 8B (MNGIE TYPE), PITUITARY HORMONE DEFICIENCY, COMBINED, 1, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, TYROSINEMIA, TYPE II, NEPHRONOPHTHISIS 11, STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, BOWEN-CONRADI SYNDROME, VAN MALDERGEM SYNDROME 2, SENIOR-LOKEN SYNDROME 9, FUHRMANN SYNDROME, CHONDRODYSPLASIA, GREBE TYPE, OSTEOGENESIS IMPERFECTA, TYPE XIII, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, LEGG-CALVE-PERTHES DISEASE, PAGET DISEASE OF BONE 5, JUVENILE-ONSET, CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME, ?MICROPHTHALMIA, SYNDROMIC 1, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY, METHYLMALONIC ACIDURIA, MUT(0) TYPE, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, TRANSCOBALAMIN II DEFICIENCY, LEOPARD SYNDROME 1, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, DIAMOND-BLACKFAN ANEMIA 1, GAUCHER DISEASE, TYPE II, {?OBESITY, SUSCEPTIBILITY TO, BMIQ18}, MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, WARBURG MICRO SYNDROME 3, OMENN SYNDROME, REVESZ SYNDROME, SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE, IMMUNODEFICIENCY 15, BARAITSER-WINTER SYNDROME 1, EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME, CAMURATI-ENGELMANN DISEASE, SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE, CEREBRAL CREATINE DEFICIENCY SYNDROME 1, RENAL TUBULAR ACIDOSIS, DISTAL, AR, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, DIAMOND-BLACKFAN ANEMIA 5, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, BRUCK SYNDROME 1, COCKAYNE SYNDROME, TYPE B, MENTAL RETARDATION, X-LINKED 3 (METHYLMALONIC ACIDEMIA AND HOMOCYSTEINEMIA, CBLX TYPE ), AMISH INFANTILE EPILEPSY SYNDROME, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, DIAMOND-BLACKFAN ANEMIA 6, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES, PONTOCEREBELLAR HYPOPLASIA, TYPE 1C, 3-M SYNDROME 3, INFANTILE-ONSET MULTISYSTEM NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, ?OSTEOGENESIS IMPERFECTA, TYPE X, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, KLIPPEL-FEIL SYNDROME 4, AUTOSOMAL RECESSIVE, WITH MYOPATHY AND FACIAL DYSMORPHISM, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, WARBURG MICRO SYNDROME 1, MYOTUBULAR MYOPATHY, X-LINKED, ZIMMERMANN-LABAND SYNDROME 1, WERNER SYNDROME, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, ?LICHTENSTEIN-KNORR SYNDROME, WARBURG MICRO SYNDROME 2, METATROPIC DYSPLASIA, MENTAL RETARDATION, AUTOSOMAL DOMINANT 7, DENT DISEASE, SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT, RICKETS DUE TO DEFECT IN VITAMIN D 25-HYDROXYLATION, HOLOPROSENCEPHALY SEQUENCE HOLOPROSENCEPHALY 1, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 2, OSTEOSCLEROSIS, HYPEROSTOSIS, ENDOSTEAL, ?BARDET-BIEDL SYNDROME 19, ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 11, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 3, LOEYS-DIETZ SYNDROME 2, HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINEMIA SYNDROME, {BARDET-BIEDL SYNDROME 14, MODIFIER OF}, ?BARDET-BIEDL SYNDROME 14, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, PITUITARY HORMONE DEFICIENCY, COMBINED, 6, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO I DEFICIENCY, CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY, IMMUNODEFICIENCY 19, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 1, SADDAN, DIAMOND-BLACKFAN ANEMIA 9, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, OROTIC ACIDURIA, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18, MEVALONIC ACIDURIA, PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER), FANCONI ANEMIA, COMPLEMENTATION GROUP A, DIABETES MELLITUS, TRANSIENT NEONATAL, 3, OSTEOGENESIS IMPERFECTA, TYPE III, BARDET-BIEDL SYNDROME 7, EHLERS-DANLOS SYNDROME, TYPE VI, LEPRECHAUNISM, BOOMERANG DYSPLASIA, METAPHYSEAL CHONDRODYSPLASIA, MURK JANSEN TYPE, CONGENITAL SHORT BOWEL SYNDROME, SECKEL SYNDROME 1, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, GALACTOSEMIA, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, {METABOLIC SYNDROME, PROTECTION AGAINST}, PHELAN-MCDERMID SYNDROME, ?COENZYME Q10 DEFICIENCY, PRIMARY, 8, SPONDYLOOCULAR SYNDROME, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLF TYPE, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE, YUNIS-VARON SYNDROME, FILS SYNDROME, FANCONI RENOTUBULAR SYNDROME 2, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, HYDROLETHALUS SYNDROME, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE, ?ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE, THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME, CHYLOMICRON RETENTION DISEASE, SCLEROSTEOSIS 2, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, STIFF SKIN SYNDROME, CORNELIA DE LANGE SYNDROME 2, CRANIOOSTEOARTHROPATHY, HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE 1, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 1, ?DIAMOND-BLACKFAN ANEMIA 11, AYME-GRIPP SYNDROME, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, DIAMOND-BLACKFAN ANEMIA 10, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, ROBINOW SYNDROME, PEROXISOME BIOGENESIS DISORDER 4B, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, SERKAL SYNDROME, RENAL TUBULAR ACIDOSIS, PROXIMAL, WITH OCULAR ABNORMALITIES, OSTEOGENESIS IMPERFECTA, TYPE I, BEARE-STEVENSON CUTIS GYRATA SYNDROME, MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE), 3-M SYNDROME 1, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA, GALLOWAY-MOWAT SYNDROME, WRINKLY SKIN SYNDROME, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, MILLER SYNDROME, SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1, VITAMIN D-DEPENDENT RICKETS, TYPE I, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 11-BETA-HYDROXYLASE DEFICIENCY, OCULOECTODERMAL SYNDROME, PERIVENTRICULAR HETEROTOPIA WITH MICROCEPHALY, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 18, OSTEOGENESIS IMPERFECTA, TYPE IX, OSTEOGENESIS IMPERFECTA, TYPE II, COFFIN-SIRIS SYNDROME 4, NETHERTON SYNDROME, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, BALLER-GEROLD SYNDROME, COENZYME Q10 DEFICIENCY, PRIMARY, 5, SELECTIVE T-CELL DEFECT, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, POPLITEAL PTERYGIUM SYNDROME, BARTSOCAS-PAPAS TYPE, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, ?JOUBERT SYNDROME 26, LEUKODYSTROPHY, HYPOMYELINATING, 12, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, MARINESCO-SJOGREN SYNDROME, TRICHOHEPATOENTERIC SYNDROME 2, GROWTH HORMONE DEFICIENCY, ISOLATED PARTIAL, NIEMANN-PICK DISEASE, TYPE B, SJOGREN-LARSSON SYNDROME, LEIGH SYNDROME, FRENCH-CANADIAN TYPE, ?CHARGE SYNDROME, CHARGE SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MILD VARIANT, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1, CORNELIA DE LANGE SYNDROME 1, RENAL TUBULAR ACIDOSIS, DISTAL, AD, ENCEPHALOPAHTY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL PEROXISOMAL FISSION, MEIER-GORLIN SYNDROME 4, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, LOEYS-DIETZ SYNDROME 1, NEUROFIBROMATOSIS-NOONAN SYNDROME, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, CITRULLINEMIA, TYPE II, NEONATAL-ONSET, SMITH-MCCORT DYSPLASIA 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIJ, NEPHRONOPHTHISIS 15, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC, ?MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE, SENGERS SYNDROME, NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY, DE SANCTIS-CACCHIONE SYNDROME, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A, SINGLETON-MERTEN SYNDROME 2, SEIZURES, CORTICAL BLINDNESS, MICROCEPHALY SYNDROME, HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2, 46XY SEX REVERSAL 6, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, BARDET-BIEDL SYNDROME 2, HYPERMETHIONINEMIA WITH DEFICIENCY OF S-ADENOSYLHOMOCYSTEINE HYDROLASE, INFANTILE CEREBELLAR-RETINAL DEGENERATION, ?SECKEL SYNDROME 8, EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2, EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, HYPOTHYROIDISM, CENTRAL, AND TESTICULAR ENLARGEMENT, IFAP SYNDROME WITH OR WITHOUT BRESHECK SYNDROME, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, WATSON SYNDROME, LISSENCEPHALY 4 (WITH MICROCEPHALY), ?MICROPHTHALMIA, SYNDROMIC 13, OROFACIODIGITAL SYNDROME I, CARBAMOYLPHOSPHATE SYNTHETASE I DEFICIENCY, ACROMICRIC DYSPLASIA, ACHALASIA-ADDISONIANISM-ALACRIMIA SYNDROME, CEREBROOCULOFACIOSKELETAL SYNDROME 4, ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM, HYPOPHOSPHATEMIC RICKETS, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 4, SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES, OSTEOGENESIS IMPERFECTA, TYPE VIII, ECTODERMAL DYSPLASIA 2, CLOUSTON TYPE, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, HYPOMAGNESEMIA 3, RENAL, OHDO SYNDROME, X-LINKED, FANCONI ANEMIA, COMPLEMENTATION GROUP T, APERT SYNDROME, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2, NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE, KEPPEN-LUBINSKY SYNDROME, MASA SYNDROME, CRASH SYNDROME, EXOSTOSES, MULTIPLE, TYPE 2, CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GPAPP TYPE, BRACHYDACTYLY, TYPE D, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIA, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, LEUKODYSTROPHY, HYPOMYELINATING, 3, TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE, HUNTINGTON DISEASE-LIKE 2, PREMATURE AGING SYNDROME, PENTTINEN TYPE, ?NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE-DAGHER-MELIKE TYPE, {CELIAC DISEASE, SUSCEPTIBILITY TO}, PROLIFERATIVE VASCULOPATHY AND HYDRAENCEPHALY-HYDROCEPHALY SYNDROME, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 13, STAR SYNDROME, THANATOPHORIC DYSPLASIA, TYPE II, HETEROTAXY, VISCERAL, 5, CEREBELLAR HYPOPLASIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDAL LOCOMOTION 1, {OBESITY, SEVERE, SUSCEPTIBILITY TO, BMIQ9}, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, MULTIPLE SULFATASE DEFICIENCY, MEDNIK SYNDROME, CZECH DYSPLASIA, ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE, SHORT SYNDROME, DIAMOND BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS, LYSINURIC PROTEIN INTOLERANCE, ?ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 2, ADENYLOSUCCINASE DEFICIENCY, CEREBRAL DYSGENESIS, NEUROPATHY, ICHTHYOSIS, AND PALMOPLANTAR KERATODERMA SYNDROME, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, COACH SYNDROME, MICROCEPHALY 1, PRIMARY, AUTOSOMAL RECESSIVE, BLOOM SYNDROME, CEREBROCOSTOMANDIBULAR SYNDROME, PONTOCEREBELLAR HYPOPLASIA TYPE 1A, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, INTERSTITIAL LUNG AND LIVER DISEASE, MUCOLIPIDOSIS III GAMMA, ZIMMERMANN-LABAND SYNDROME 2, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, TRANSALDOLASE DEFICIENCY, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE, HYPERCALCEMIA, INFANTILE, CARDIOFACIOCUTANEOUS SYNDROME, SPONDYLOCHEIRODYSPLASIA, EHLERS-DANLOS SYNDROME-LIKE, STICKLER SYNDROME, TYPE I, HUTCHINSON-GILFORD PROGERIA, ACYL-COA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF, LYMPHEDEMA, HEREDITARY, III, OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA, BARDET-BIEDL SYNDROME 3, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, ULNAR-MAMMARY SYNDROME, GLYCOGEN STORAGE DISEASE XII, MENTAL RETARDATION, X-LINKED 99, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, IMMUNODEFICIENCY, PRIMARY, AUTOSOMAL RECESSIVE, IL21R-RELATED, PETERS-PLUS SYNDROME, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13, RUBINSTEIN-TAYBI SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 21, DIAPHANOSPONDYLODYSOSTOSIS, BARDET-BIEDL SYNDROME 16, PHOSPHORYLASE KINASE DEFICIENCY OF LIVER AND MUSCLE, AUTOSOMAL RECESSIVE, SMITH-LEMLI-OPITZ SYNDROME, NOONAN SYNDROME 4, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IW, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IV, ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES, BARDET-BIEDL SYNDROME 8, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 3, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2, BARDET-BIEDL SYNDROME 4, COENZYME Q10 DEFICIENCY, PRIMARY, 7, TATTON-BROWN-RAHMAN SYNDROME, NEUROPATHY, HEREDITARY SENSORY, TYPE IIC, DESMOSTEROLOSIS, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1, ?SPASTIC PARAPLEGIA 63, PERRY SYNDROME, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), GLUCOSE-6-PHOSPHATE TRANSPORT DEFECT, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FEATURES, AND SPARSE HAIR, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2R, METHEMOGLOBINEMIA, TYPE II, METHEMOGLOBINEMIA, TYPE I, SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3, MEIER-GORLIN SYNDROME 3, PYRUVATE KINASE DEFICIENCY, LUJAN-FRYNS SYNDROME, HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2, NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VI, LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, BRUCK SYNDROME 2, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3, WITH RENAL TUBULAR ACIDOSIS, GLUCOSE/GALACTOSE MALABSORPTION, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 26, MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA), GLYCOGEN STORAGE DISEASE IA, OSTEOGENESIS IMPERFECTA, TYPE V, KOOLEN-DE VRIES SYNDROME, DEAFNESS, DYSTONIA, AND CEREBRAL HYPOMYELINATION, MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE), 3-METHYLGLUTACONIC ACIDURIA, TYPE VII, WITH CATARACTS, NEUROLOGIC INVOLVEMENT AND NEUTROPENIA, ACHONDROGENESIS, TYPE IA, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IF, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE, METAPHYSEAL ANADYSPLASIA 1, CARNITINE DEFICIENCY, SYSTEMIC PRIMARY, WEILL-MARCHESANI SYNDROME 1, RECESSIVE, ?MENTAL RETARDATION, X-LINKED, SYNDROMIC 11, SHASHI TYPE, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, SEVERE COMBINED IMMUNODEFICIENCY, ATHABASCAN TYPE, VAN MALDERGEM SYNDROME 1, MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY, ARGININEMIA, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, THYROID DYSHORMONOGENESIS 1, PANCREATIC AGENESIS 1, BARTTER SYNDROME, TYPE 1, OSTEOGLOPHONIC DYSPLASIA, NIEMANN-PICK DISEASE, TYPE A, SPONDYLOEPIPHYSEAL DYSPLASIA, KIMBERLEY TYPE, SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES, LOWE SYNDROME, ?BARDET-BIEDL SYNDROME 11, GM1-GANGLIOSIDOSIS, TYPE I, ?LAURENCE-MOON SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIC, CORNELIA DE LANGE SYNDROME 4, SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS, OTOPALATODIGITAL SYNDROME, TYPE I, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS, 3-METHYLGLUTACONIC ACIDURIA, TYPE V, GLYCOGEN STORAGE DISEASE, TYPE IXA1, GLYCOGEN STORAGE DISEASE, TYPE IXA2, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, SECKEL SYNDROME 5, ?MYOSCLEROSIS, CONGENITAL, SED CONGENITA, KNIEST DYSPLASIA, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, COFFIN-SIRIS SYNDROME 1, RESTRICTIVE DERMOPATHY, LETHAL, SENSORINEURAL DEAFNESS WITH MILD RENAL DYSFUNCTION, BARTTER SYNDROME, TYPE 4A, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, MACROCEPHALY/AUTISM SYNDROME, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C, GAUCHER DISEASE, TYPE III, LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, HYPERPARATHYROIDISM, NEONATAL, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), JOUBERT SYNDROME 8, CHILD SYNDROME, BARDET-BIEDL SYNDROME 13, SECKEL SYNDROME 9, HYPERTHYROIDISM, NONAUTOIMMUNE, NEPHRONOPHTHISIS 4, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, ENCEPHALOPATHY, NEONATAL SEVERE, FANCONI ANEMIA, COMPLEMENTATION GROUP L, EHLERS-DANLOS SYNDROME, TYPE IV, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE, JOUBERT SYNDROME 14, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, RENPENNING SYNDROME, SPONDYLOCOSTAL DYSOSTOSIS 5, RITSCHER-SCHINZEL SYNDROME 1, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, WILSON-TURNER SYNDROME, THYROID DYSHORMONOGENESIS 4, ANDROGEN INSENSITIVITY, LEUKODYSTROPHY, HYPOMYELINATING, 6, WOLCOTT-RALLISON SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12, SHORT-RIB THORACIC DYSPLASIA 11 WITH OR WITHOUT POLYDACTYLY, DIABETES INSIPIDUS, NEPHROGENIC, PEELING SKIN SYNDROME 1, CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2, HYPOPHOSPHATASIA, CHILDHOOD, SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY, PONTOCEREBELLAR HYPOPLASIA, TYPE 8, MENTAL RETARDATION, X-LINKED SYNDROMIC, CHRISTIANSON TYPE, MUCOPOLYSACCHARIDOSIS TYPE IIIC (SANFILIPPO C), THYROTROPIN-RELEASING HORMONE DEFICIENCY, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, GLUCOCORTICOID DEFICIENCY 4, GM1-GANGLIOSIDOSIS, TYPE III, SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B-CELL/NATURAL KILLER-CELL POSITIVE, SEVERE COMBINED IMMUNODEFICIENCY, T-CELL NEGATIVE, B-CELL/NATURAL KILLER CELL-POSITIVE TYPE, SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25, SIALURIA, MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, CRANIOFACIAL DYSMORPHISM, AND CONGENITAL HEART DEFECTS, MECKEL SYNDROME 4, HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS, ?IMMUNODEFICIENCY, COMMON VARIABLE, 11, BARDET-BIEDL SYNDROME 9, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, DIAMOND-BLACKFAN ANEMIA 7, IMMUNODEFICIENCY 9, CYSTINOSIS, ATYPICAL NEPHROPATHIC, CYSTINOSIS, NEPHROPATHIC, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 6, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO II DEFICIENCY, CODAS SYNDROME, KABUKI SYNDROME 1, ERYTHRODERMA, CONGENITAL, WITH PALMOPLANTAR KERATODERMA, HYPOTRICHOSIS, AND HYPER IGE, DYSAUTONOMIA, FAMILIAL, PROTEINURIA, LOW MOLECULAR WEIGHT, WITH HYPERCALCIURIC NEPHROCALCINOSIS, SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IE, AMYOTROPHY, HEREDITARY NEURALGIC, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY,; LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY,; LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY,; ?LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, DENT DISEASE 2, SMITH-KINGSMORE SYNDROME

CA2, DCHS1, DNA2, ORC6, PLOD3, CLMP, LMNA, ACADS, DNM2, NALCN, GNAS, WNT5A, CIITA, GLI3, COL3A1, RPL5, GUSB, ENPP1, SDHA, BBS5, ALG3, CASR, PCYT1A, CDC6, SLC5A5, POLE, SLC17A5, LHX3, CHD8, NOG, DST, PTRH2, RAD51C, FH, PLAGL1, AGK, HPGD, G6PC, TTC8, ARSE, POR, PEX2, CYB5R3, CREBBP, GNE, P3H1, MYO18B, TRMT5, EPCAM, DYNC2H1, CDKN1C, EVC, PHKB, VLDLR, TRPV4, SOX2, NDUFAF3, CLDN16, PHKA2, SPINK5, AR, LONP1, SLC39A8, CD79A, THRA, GLI2, BUB1B, MTOR, ASAH1, MT-ND6, MGAT2, AGRP, KIAA0556, AMER1, MARS2, NR0B1, DSP, SMARCE1, KCNJ1, TALDO1, GPC6, SUCLA2, AAAS, BMP1, UBR1, STEAP3, NKX2-5, ABCD4, NDUFA1, TNNT2, GPD1, CYP21A2, ANKRD11, ADRB3, PNPLA6, NDUFA10, SEPT9, MT-CO1, GATA1, TUFM, MAN1B1, BANF1, ALDOA, AGL, TRAF3IP1, TAT, HNF1B, XYLT2, BCS1L, SETD2, GNPTAB, PIGY, SCNN1B, TMCO1, SLC25A15, CEP290, IGHM, HDAC6, GPIHBP1, SLC19A2, LEP, CTDP1, ARG1, PQBP1, NUP62, PPP2R1A, CHRNA1, NDUFA2, NKX3-2, DDR2, RIPK4, SLC9A1, INPPL1, AIP, PPIB, LRPPRC, SLC5A1, UBE3A, CLPB, SH3PXD2B, COX15, EZH2, TWIST1, NSDHL, CTNS, CD96, AARS, NOTCH3, HSPA9, ORC1, EFNB1, FAR1, ECHS1, MUSK, CHMP1A, NOD2, MTM1, BBS9, POLA1, CHST3, CUL4B, DPM1, SLC2A1, DHCR24, TRIP11, MASP1, BBS7, SLC46A1, SEPN1, UNC80, HGSNAT, LAMC2, UBE2A, NPHP1, SEC23A, NONO, SRCAP, PEX12, SOS2, MAPRE2, IFT27, HADHB, TSR2, VPS11, AP4S1, PTPN11, SMARCA2, MPV17, SLC35D1, DMXL2, ZMPSTE24, SNRPN, RAB40AL, HLA-DQB1, CLCNKB, SNRPB, SLC6A8, B4GALT7, CTCF, GHRL, FANCL, EGFR, DGAT1, POLR3B, KRT14, PNPLA2, ALB, MALT1, PDE4D, PEX5, SURF1, FAM58A, GJB6, KMT2A, TRAIP, MMP1, MKS1, MT-CO2, ACTB, SEMA3E, RPS7, COL1A2, DGUOK, JPH3, ALPL, B3GLCT, AP4B1, COL11A2, MRAP2, PTDSS1, PEX13, IL7R, G6PC3, ADGRG6, FGF23, HADH, BBS1, ASPM, PTRF, NPR2, PROK2, UMPS, PGAP1, MT-CO3, NBN, PCNT, COG6, CYP11B1, COX6B1, MBTPS2, BBS2, RRM2B, INPP5E, NRAS, HSD11B1, RBCK1, AARS2, IL2RG, CUL7, KIF1A, TGFBR2, FIG4, SHOC2, TNNT3, NDE1, MAP2K2, CLCNKA, CYP7B1, GUCY2D, SP7, SLC34A3, NOTCH1, ERCC3, TTC37, CBS, NDUFA12, FGFR1, KIF2A, SLC39A4, AFF4, EHHADH, EXOSC8, KIF5C, ESR1, GK, EARS2, ADAMTS10, RBM10, PTH1R, VPS33B, GPX4, TCIRG1, FAT4, SLC6A19, MCPH1, SDC3, RAB18, PLOD2, STAT3, NUBPL, BRAF, SLC26A3, NDUFS3, ANKLE2, MC4R, PIGA, ORC4, STIM1, DPH1, GNPTG, SLC2A2, MT-ATP6, IGF1, KCNJ5, KRT5, SMAD9, RIT1, SLC29A3, CYP27B1, MRPS16, TAZ, NDUFS4, AASS, UBE2T, ALDH3A2, TMEM70, POMC, ANKH, GDF5, HRAS, NDN, SMC1A, PLEC, KANSL1, PCSK1, FOXP1, DVL1, MUT, COQ9, CDK5RAP2, COG4, LRP2, IKBKB, CASP8, CDSN, CCDC8, BSND, TMEM67, PSMB8, SARS2, SEC24D, COQ4, ABCB11, MAF, TUBB4A, MT-ND3, CENPJ, AGPAT2, NDUFV1, OTC, VDR, PEX1, COL6A2, SLC26A2, UQCC2, RDH11, DYRK1A, AIMP1, PPP2R5D, JAGN1, B3GAT3, XYLT1, PGM1, HYLS1, GATA6, KMT2D, IGF1R, EIF2AK3, EMG1, PCLO, STAT1, TBCE, SCO1, RECQL4, NOTCH2, COL6A3, NDUFB9, LRP4, TINF2, LRP5, CPS1, OFD1, PCNA, NDUFS6, TAF1, FLNB, IFITM5, PEX16, SLC25A4, CTSK, STRA6, ARL13B, ADA, ALDH18A1, HSPG2, FCGR2A, NDUFS2, C10orf2, SKIV2L, PDX1, UCP1, PHEX, CD3D, KCNJ10, ADRB2, STT3B, SDHD, ADSL, RAD21, BLK, ATRX, IGBP1, IKBKG, CTSA, EFTUD2, CYP11B2, RPS26, ATP6V1B2, AGT, VPS53, KCNJ6, TAF6, TRAPPC2, KDM1A, SNCA, GALT, NPHP4, RBMX, HCRT, EIF4A3, SOS1, NEB, IGHMBP2, UCP3, ALG1, IL21R, ARSB, PDE6D, SIM1, COL10A1, PIK3CA, MSMO1, ST3GAL5, BMPER, SIL1, JAG1, COX8A, TNFRSF11B, NAA10, GRID2, COL2A1, NF1, ARNT2, ACTA1, VRK1, FKBP10, MOG, SMARCA4, CBL, SCNN1G, NDUFAF6, LZTR1, KCNH1, CLCN5, ORAI1, IGF2, NOS3, PARN, DCLRE1C, NR1I3, IL21, ERCC6, SHANK3, SCNN1A, RAB39B, NNT, GFM1, HADHA, POGZ, CEP152, PLOD1, NDUFAF4, LMBRD1, MMP13, ACO2, SLC25A13, PNPLA8, IRF8, GLIS3, SPARC, DHODH, GTPBP3, TMEM173, TSHR, GSC, IMPAD1, COX14, RPS6KA3, STAMBP, ERCC8, INS, DNM1L, PAM16, PIK3R2, FANCM, TMEM237, COL7A1, COX7B, DDX3X, DKC1, SMPD1, NBAS, EXT1, SLC22A5, SDCCAG8, LMX1B, HLA-DRB1, CNTN1, NAT8L, PEX6, GNA11, BBS4, HNF4A, RAPSN, ARL6, KIF1B, ROR2, BRCA1, PTHLH, ITPR2, TUBGCP6, KLF1, NODAL, BMPR1A, ATP5A1, MT-ND1, USP9X, DCTN1, PTS, IHH, RPS10, POLD1, ELAC2, TMEM165, ACD, MCCC1, NDUFA9, RPS19, AQP2, FGFR3, MTTP, LZTFL1, CFTR, COX10, CHRND, EHMT1, GHSR, FAH, SSR4, ASXL1, SUCLG1, SMARCB1, HDAC8, MYH7, AGPS, ATP8B1, MT-ND4, PUF60, ABCA3, FOXG1, CENPE, JAK3, ATP7A, WNT1, TGFB1, TP63, PGAP3, LRBA, GATM, DNMT3A, ZBTB24, GBA, CA12, RAB3GAP1, ABCC9, PIP5K1C, DOK7, CACNA1S, RPL26, LAMTOR2, TRH, IYD, GRM1, ABCC8, EDNRB, POLG, SLC39A13, ADNP, HMGB3, OCLN, ZAP70, NDUFB11, PEX7, SLC12A1, TRIM37, DHFR, SLC37A4, DSG1, NDUFS8, MPC1, POLR1A, IGSF1, COL1A1, DNAJC19, ST14, CHRNG, MAP3K1, NDUFA11, PIGT, ERCC1, CDT1, BCAP31, EBP, GLB1, TBX3, KIF22, PPARG, P4HB, COL5A1, OTX2, PRKAR1A, KISS1R, KIF14, BTK, OCRL, NDUFB3, RAB3GAP2, IBA57, PRF1, CLASP1, NEU1, COQ7, COX20, SERPINH1, PIGL, EFEMP2, WNT4, SMAD4, WFS1, PIGG, BLM, HLA-DQA1, DNMT3B, ATP6V0A2, PDGFRB, CYP2R1, WNT7A, DVL3, QDPR, STT3A, PIGO, FBLN5, FGFR2, MC3R, TRIM32, WRN, CHST14, GCH1, IL6, COL6A1, TPM3, SLC34A1, EPHX1, POU1F1, EVC2, CEP63, AKT2, ARFGEF2, CANT1, SPG20, MEGF10, DDX11, IKBKAP, TNNI2, GNPAT, ASS1, TPM2, PPP1R15B, AVPR2, PUS1, TGFBR1, SLC35C1, SLC4A1, AP1S1, CLP1, GCDH, NR3C2, GHR, ZBTB16, SF3B4, SLC7A7, NDST1, HCFC1, SLC4A4, CYP24A1, TBC1D20, TUB, PTPRC, SPATA5, NDUFS7, PAX8, TCN2, LARS, GPC3, KCNJ11, NARS2, GJA1, SOX9, MYH3, SLC9A6, RPS28, SFXN4, PEX19, MECP2, MVK, MC2R, TGFB3, ACAN, NLRC4, RAB33B, MYO5B, CEP164, TRIM2, PMPCA, KRAS, GALE, PRKDC, NDUFS1, MRPL3, PLK4, DDX58, RPS17, MED12, DOLK, PIEZO1, MED17, SLC10A2, AKT1, MCM4, ITCH, MPDU1, PIGN, B3GALT6, WDR34, TFAP2A, SNAP29, DDOST, TRAC, PNPT1, LYRM4, RUNX2, SUMF1, NHP2, LCK, NME1, FLNA, NR0B2, POLR3A, RAB23, ACACA, HCCS, BMPR1B, HSD17B4, DHCR7, PRNP, PYGL, RPL35A, ATM, SPG11, BRF1, CASK, EXT2, PRKACA, DLX5, INSR, PKLR, KIAA0196, NDUFV2, CEP57, DIAPH1, FLVCR2, ZNF592, CD3G, NPHS1, MARS, RPL11, GAS1, FANCC, L1CAM, MT-ND5, FBN1, RET, TBX6, KCNJ2, PTEN, HACE1, HOXD13, EXOSC3, AMPD2, DNAJC3, SAR1B, MYH11, ATR, AHCY, PIK3R1, HSD3B7, VPS45, LARP7, MTRR, RYR1, SHH

PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER), PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER), ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 3, PERRAULT SYNDROME 1, PEROXISOME BIOGENESIS DISORDER 3B, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, SHORT SYNDROME, TRIFUNCTIONAL PROTEIN DEFICIENCY, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, MULIBREY NANISM, CK SYNDROME, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), PEROXISOMAL FATTY ACYL-COA REDUCTASE 1 DISORDER, ?FANCONI RENOTUBULAR SYNDROME 3, ALAGILLE SYNDROME, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, D-BIFUNCTIONAL PROTEIN DEFICIENCY, MALONYL-COA DECARBOXYLASE DEFICIENCY, PEROXISOME BIOGENESIS DISORDER 8B, ?MITOCHONDRIAL MYOPATHY WITH LACTIC ACIDOSIS, MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 2, CHILD SYNDROME, MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE), PEROXISOME BIOGENESIS DISORDER 4B, ENCEPHALOPAHTY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL PEROXISOMAL FISSION, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 4, SJOGREN-LARSSON SYNDROME

PEX1, MLYCD, AGPS, HSD17B4, PEX6, PEX12, AGT, HADHB, AMACR, ALDH3A2, NSDHL, PEX16, EHHADH, GNPAT, PNPLA8, DNM1L, MPV17, PEX19, TMEM173, PEX13, ABCD4, JAG1, PEX5, PEX7, NDUFS2, TRIM37, DHFR, FAR1, PIK3R1

OSTEOGENESIS IMPERFECTA, TYPE I, CAMURATI-ENGELMANN DISEASE, NIEMANN-PICK DISEASE, TYPE A, OSTEOGENESIS IMPERFECTA, TYPE IV, MUCOPOLYSACCHARIDOSIS IH/S, GM1-GANGLIOSIDOSIS, TYPE I, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, GAUCHER DISEASE, PERINATAL LETHAL, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, KOSAKI OVERGROWTH SYNDROME, OMODYSPLASIA 1, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, CORNELIA DE LANGE SYNDROME 4, MUCOPOLYSACCHARIDOSIS, MPS-III-A, OSTEOGENESIS IMPERFECTA, TYPE II, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, TRANSCOBALAMIN II DEFICIENCY, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, PREMATURE AGING SYNDROME, PENTTINEN TYPE, DONNAI-BARROW SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, FABRY DISEASE, FABRY DISEASE, CARDIAC VARIANT, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, GM1-GANGLIOSIDOSIS, TYPE III, MUCOPOLYSACCHARIDOSIS VII, ?MUCOPOLYSACCHARIDOSIS TYPE IX, MUCOPOLYSACCHARIDOSIS II, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, FARBER LIPOGRANULOMATOSIS, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, GAUCHER DISEASE, TYPE III, NIEMANN-PICK DISEASE, TYPE B, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9, PYCNODYSOSTOSIS, MUCOPOLYSACCHARIDOSIS TYPE IIID, MUCOPOLYSACCHARIDOSIS IH, SPONDYLOEPIPHYSEAL DYSPLASIA, KIMBERLEY TYPE, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, GALACTOSIALIDOSIS, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, GAUCHER DISEASE, TYPE II, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, OSTEOGENESIS IMPERFECTA, TYPE III, MUCOPOLYSACCHARIDOSIS IVA, KRABBE DISEASE, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2

ACTA1, GPC3, ACAN, SMPD1, COL1A1, IGF1, RAD21, NOTCH1, CTSK, IDS, CTSA, STAT1, GLB1, GUSB, GNS, TGFB1, ASAH1, NOS3, GALC, GPC6, IDUA, CBL, MRPL3, DVL1, GBA, GLA, HLA-DRB1, LRP2, IRF8, SGSH, IL6, TCN2, GALNS, EGFR, SDC3, PDGFRB, HSPG2, NEU1, INS, HYAL1, ARSB, SHH

BARAITSER-WINTER SYNDROME 1, EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, GAUCHER DISEASE, PERINATAL LETHAL, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLF TYPE, SHORT SYNDROME, LYSINURIC PROTEIN INTOLERANCE, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DONNAI-BARROW SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ZIMMERMANN-LABAND SYNDROME 2, HYPOCALCEMIA, AUTOSOMAL DOMINANT 2, MYOTUBULAR MYOPATHY, X-LINKED, ZIMMERMANN-LABAND SYNDROME 1, ?LICHTENSTEIN-KNORR SYNDROME, DENT DISEASE, HYPOPHOSPHATASIA, INFANTILE, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, SALLA DISEASE, PSEUDOHYPOPARATHYROIDISM IA, IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN, PSEUDOPSEUDOHYPOPARATHYROIDISM, BILE ACID MALABSORPTION, PRIMARY, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23, RENAL CYSTS AND DIABETES SYNDROME, ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1, PSEUDOHYPOPARATHYROIDISM IC, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, INCONTINENTIA PIGMENTI, LEPRECHAUNISM, PERRY SYNDROME, SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B-CELL/NATURAL KILLER-CELL POSITIVE, SEVERE COMBINED IMMUNODEFICIENCY, T-CELL NEGATIVE, B-CELL/NATURAL KILLER CELL-POSITIVE TYPE, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, WRINKLY SKIN SYNDROME, CHYLOMICRON RETENTION DISEASE, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1, GALACTOSIALIDOSIS, RABSON-MENDENHALL SYNDROME, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, MEDNIK SYNDROME, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA, ?BARDET-BIEDL SYNDROME 11, OCULOECTODERMAL SYNDROME, ?DYSTONIA, JUVENILE-ONSET, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, LEUKODYSTROPHY, HYPOMYELINATING, 12, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, PARKINSON DISEASE 4, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIK, SIALIC ACID STORAGE DISORDER, INFANTILE, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, HYPOPHOSPHATASIA, CHILDHOOD, MYHRE SYNDROME, MUCOPOLYSACCHARIDOSIS TYPE IIIC (SANFILIPPO C), HYPOPHOSPHATEMIC RICKETS, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, CYSTINOSIS, ATYPICAL NEPHROPATHIC, CYSTINOSIS, NEPHROPATHIC, GAUCHER DISEASE, TYPE III, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, PROTEINURIA, LOW MOLECULAR WEIGHT, WITH HYPERCALCIURIC NEPHROCALCINOSIS, GAUCHER DISEASE, TYPE II, CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, {CELIAC DISEASE, SUSCEPTIBILITY TO}, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

TUFM, TRIM32, ALPL, AGL, SLC9A1, HLA-DQA1, CASP8, LAMTOR2, SMAD4, ALB, CLCN5, SLC17A5, GNAS, IKBKG, SLC29A3, STAT1, HDAC6, ATP6V1B2, AGT, MTOR, HLA-DRB1, GNA11, TP63, SPATA5, TCIRG1, LRP2, INSR, CTSA, COL6A1, VPS11, AKT1, KRAS, GTPBP3, SNCA, CBL, PSMB8, PTPRC, IL6, GBA, ATP6V0A2, NEU1, ASPM, VPS33B, HLA-DQB1, IRF8, DCTN1, HNF1B, DNM2, SPG11, CTNS, AP1S1, DYNC2H1, HRAS, EGFR, SLC10A2, HGSNAT, ACTB, SLC7A7, IGF1, POMC, HSPG2, ENPP1, STAT3, BTK, LMBRD1, INS, TMEM165, SAR1B, PIK3R1

D-BIFUNCTIONAL PROTEIN DEFICIENCY, PEROXISOME BIOGENESIS DISORDER 4B, FANCONI ANEMIA, COMPLEMENTATION GROUP A, PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER), PEROXISOME BIOGENESIS DISORDER 8B, ?MITOCHONDRIAL MYOPATHY WITH LACTIC ACIDOSIS, PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER), CARDIOFACIOCUTANEOUS SYNDROME, PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER), METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, DYSAUTONOMIA, FAMILIAL, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 3, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, ?SECKEL SYNDROME 4, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), PEROXISOMAL FATTY ACYL-COA REDUCTASE 1 DISORDER, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 2, PERRAULT SYNDROME 1, PEROXISOME BIOGENESIS DISORDER 3B, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36

PEX12, PEX16, PEX1, PNPLA8, IKBKAP, PEX2, PEX5, HSD17B4, GNPAT, PEX13, AGPS, PPP2R1A, MAP2K2, BRCA1, ABCD4, PEX19, CENPJ, FAR1, PEX6

BARAITSER-WINTER SYNDROME 1, IMMUNODEFICIENCY 15, SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE, ?LICHTENSTEIN-KNORR SYNDROME, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, MULTIPLE SULFATASE DEFICIENCY, SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE, OTOPALATODIGITAL SYNDROME, TYPE II, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, SHORT SYNDROME, METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE, LETHAL CONGENITAL CONTRACTURAL SYNDROME 3, MENTAL RETARDATION, X-LINKED 3 (METHYLMALONIC ACIDEMIA AND HOMOCYSTEINEMIA, CBLX TYPE ), DONNAI-BARROW SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, CEREBRAL DYSGENESIS, NEUROPATHY, ICHTHYOSIS, AND PALMOPLANTAR KERATODERMA SYNDROME, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, WARBURG MICRO SYNDROME 2, MELNICK-NEEDLES SYNDROME, ?OSTEOGENESIS IMPERFECTA, TYPE X, GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, COLE-CARPENTER SYNDROME 1, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, ?MENTAL RETARDATION, X-LINKED, SYNDROMIC 11, SHASHI TYPE, MYOTUBULAR MYOPATHY, X-LINKED, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIJ, CARDIOFACIOCUTANEOUS SYNDROME, CEREBRAL AMYLOID ANGIOPATHY, PRNP-RELATED, GERSTMANN-STRAUSSLER DISEASE, STICKLER SYNDROME, TYPE I, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, HUTCHINSON-GILFORD PROGERIA, CEREBROOCULOFACIOSKELETAL SYNDROME 4, MEIER-GORLIN SYNDROME 1, SC PHOCOMELIA SYNDROME, OHDO SYNDROME, X-LINKED, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2S, SPONDYLOEPIPHYSEAL DYSPLASIA, KIMBERLEY TYPE, HYPOPHOSPHATASIA, INFANTILE, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT, MUCOLIPIDOSIS II ALPHA/BETA, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, OSTEOGENESIS IMPERFECTA, TYPE VIII, EXOSTOSES, MULTIPLE, TYPE 1, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, MANDIBULOACRAL DYSPLASIA, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, PSEUDOPSEUDOHYPOPARATHYROIDISM, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, MEIER-GORLIN SYNDROME 5, MENTAL RETARDATION, AUTOSOMAL DOMINANT 32, PSEUDOHYPOPARATHYROIDISM IC, RENAL CYSTS AND DIABETES SYNDROME, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, INSOMNIA, FATAL FAMILIAL, OROTIC ACIDURIA, CZECH DYSPLASIA, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, RAINE SYNDROME, CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT, OSTEOGENESIS IMPERFECTA, TYPE IV, BECKWITH-WIEDEMANN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, INCONTINENTIA PIGMENTI, HAJDU-CHENEY SYNDROME, METAPHYSEAL CHONDRODYSPLASIA, MURK JANSEN TYPE, PERRY SYNDROME, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), ?IMMUNODEFICIENCY 22, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, MUCOLIPIDOSIS III GAMMA, RUBINSTEIN-TAYBI SYNDROME, ACHONDROGENESIS, TYPE IA, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, CRANIOFRONTONASAL DYSPLASIA, PYRUVATE KINASE DEFICIENCY, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, MENTAL RETARDATION, X-LINKED 102, {METABOLIC SYNDROME, PROTECTION AGAINST}, LUJAN-FRYNS SYNDROME, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, NOONAN SYNDROME 9, COFFIN-SIRIS SYNDROME 3, FILS SYNDROME, CHONDRODYSPLASIA PUNCTATA, X-LINKED RECESSIVE, SPASTIC PARAPLEGIA 54, AUTOSOMAL RECESSIVE, ENCEPHALOPAHTY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL PEROXISOMAL FISSION, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND DEAFNESS, MARTSOLF SYNDROME, FLOATING-HARBOR SYNDROME, PSEUDOHYPOALDOSTERONISM, TYPE I, CHYLOMICRON RETENTION DISEASE, SCLEROSTEOSIS 2, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, STIFF SKIN SYNDROME, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), PRADER-WILLI SYNDROME, PONTOCEREBELLAR HYPOPLASIA, TYPE 2E, EIKEN SYNDROME, SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 1, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, OPSISMODYSPLASIA, SELECTIVE T-CELL DEFECT, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, MUCOLIPIDOSIS III ALPHA/BETA, DIABETES MELLITUS, TRANSIENT NEONATAL, 1, {DIABETES MELLITUS, TRANSIENT NEONATAL}, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIL, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, CORPUS CALLOSUM AGENESIS, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), KEPPEN-LUBINSKY SYNDROME, ?OSTEOGENESIS IMPERFECTA, TYPE XII, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, SCLEROSTEOSIS 1, OSTEOGENESIS IMPERFECTA, TYPE I, BEARE-STEVENSON CUTIS GYRATA SYNDROME, GM1-GANGLIOSIDOSIS, TYPE III, MEDNIK SYNDROME, 3-M SYNDROME 1, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, OSTEOGLOPHONIC DYSPLASIA, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, LOWE SYNDROME, ?BARDET-BIEDL SYNDROME 11, NOONAN SYNDROME 4, GM1-GANGLIOSIDOSIS, TYPE I, MUSCULAR DYSTROPHY, CONGENITAL, ?JOUBERT SYNDROME 22, OCULOECTODERMAL SYNDROME, MARFAN LIPODYSTROPHY SYNDROME, ATAXIA-TELANGIECTASIA, SMITH-MCCORT DYSPLASIA, BRACHYDACTYLY, TYPE E2, OTOPALATODIGITAL SYNDROME, TYPE I, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, OSTEOGENESIS IMPERFECTA, TYPE IX, OSTEOGENESIS IMPERFECTA, TYPE II, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, COFFIN-SIRIS SYNDROME 4, TARSAL-CARPAL COALITION SYNDROME, ?DYSTONIA, JUVENILE-ONSET, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, NOONAN SYNDROME 10, APERT SYNDROME, ALAGILLE SYNDROME, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, SED CONGENITA, WIEDEMANN-STEINER SYNDROME, KNIEST DYSPLASIA, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, SPONDYLOPERIPHERAL DYSPLASIA, GELEOPHYSIC DYSPLASIA 2, XERODERMA PIGMENTOSUM, GROUP B, AGAMMAGLOBULINEMIA 1, THYROTROPIN-RELEASING HORMONE DEFICIENCY, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, ESTROGEN RESISTANCE, CAMURATI-ENGELMANN DISEASE, OSTEOGENESIS IMPERFECTA, TYPE XIII, RENAL TUBULAR ACIDOSIS, DISTAL, AR, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, HYPERPARATHYROIDISM, NEONATAL, ANDERSEN SYNDROME, LEIGH SYNDROME, FRENCH-CANADIAN TYPE, FABRY DISEASE, FABRY DISEASE, CARDIAC VARIANT, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, MASA SYNDROME, CRASH SYNDROME, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, OSTEOSCLEROSIS, HYPEROSTOSIS, ENDOSTEAL, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, {BARDET-BIEDL SYNDROME 14, MODIFIER OF}, ?BARDET-BIEDL SYNDROME 14, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, CRANIOLENTICULOSUTURAL DYSPLASIA, HYPERTHYROIDISM, NONAUTOIMMUNE, RENAL TUBULAR ACIDOSIS, DISTAL, AD, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, FANCONI ANEMIA, COMPLEMENTATION GROUP L, CORNELIA DE LANGE SYNDROME 2, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ROBINOW SYNDROME, GALACTOSEMIA, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, PARKINSON DISEASE 4, SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, SMITH-MCCORT DYSPLASIA 2, IMAGE SYNDROME, PSEUDOHYPOPARATHYROIDISM IA, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, MENKES DISEASE, OPITZ-KAVEGGIA SYNDROME, CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GPAPP TYPE, NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY, MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE, LOEYS-DIETZ SYNDROME 1, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, MENTAL RETARDATION, X-LINKED 72, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIK, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, BLOOM SYNDROME, 46XY SEX REVERSAL 6, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, MUCOPOLYSACCHARIDOSIS, MPS-III-A, SPONDYLOCHEIRODYSPLASIA, EHLERS-DANLOS SYNDROME-LIKE, WOLCOTT-RALLISON SYNDROME, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, SECKEL SYNDROME 1, RESTRICTIVE DERMOPATHY, LETHAL, EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 1, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, BRANCHIOOCULOFACIAL SYNDROME, SMED STRUDWICK TYPE, HYPOPHOSPHATASIA, CHILDHOOD, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, DIAMOND-BLACKFAN ANEMIA 6, SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE, HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, DIABETES INSIPIDUS, NEPHROGENIC, ACROMICRIC DYSPLASIA, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 13, SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B-CELL/NATURAL KILLER-CELL POSITIVE, SEVERE COMBINED IMMUNODEFICIENCY, T-CELL NEGATIVE, B-CELL/NATURAL KILLER CELL-POSITIVE TYPE, SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE, NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, ANGELMAN SYNDROME, METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY, MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, CRANIOFACIAL DYSMORPHISM, AND CONGENITAL HEART DEFECTS, ORNITHINE TRANSCARBAMYLASE DEFICIENCY, MECKEL SYNDROME 4, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, MYHRE SYNDROME, DYGGVE-MELCHIOR-CLAUSEN DISEASE, AARSKOG-SCOTT SYNDROME, MENTAL RETARDATION, X-LINKED SYNDROMIC 16, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, LEGG-CALVE-PERTHES DISEASE, ALAZAMI SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE, OBESITY WITH IMPAIRED PROHORMONE PROCESSING, EXOSTOSES, MULTIPLE, TYPE 2, KABUKI SYNDROME 1, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2, FANCONI ANEMIA, COMPLEMENTATION GROUP D2, LEUKODYSTROPHY, HYPOMYELINATING, 3, TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE, WEILL-MARCHESANI SYNDROME 2, DOMINANT, TYROSINEMIA, TYPE II, DENT DISEASE 2, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, ROBERTS SYNDROME, LEOPARD SYNDROME 1, PROTEUS SYNDROME, SOMATIC

PDE4D, GNPTAB, PHEX, LRP4, LMNA, PLAGL1, ORC1, ACTB, GNAS, WNT5A, IKBKG, COL1A2, RPL5, GLB1, AGT, VPS53, KCNJ6, RAB39B, TRAPPC2, GNPTG, PTHLH, SNCA, CDC6, GJA1, BTK, PRKDC, NOG, P4HB, LRBA, IGHM, ESCO2, ARSE, PDE6D, TRIP11, PNPLA2, ADRB2, DNM2, TRIM32, SOS1, COG6, PIP5K1C, EFEMP2, JAG1, ERCC2, SMAD4, RAB3GAP2, CREBBP, UMPS, COL2A1, IL2RG, CUL7, COL10A1, OCRL, NUBPL, SMARCB1, ACTA1, SOX9, SDHD, ACAN, KRAS, MAP2K2, EGFR, LZTR1, MTTP, NME1, SP7, IGF2, PIGT, PKLR, THRA, ERCC3, ERCC1, RYR1, FGFR1, P3H1, SCNN1A, LEP, AKT2, GALT, GTPBP3, CBL, EFTUD2, VPS33B, SDC3, IMPAD1, GLIS3, TGFBR1, TGFB1, TAF1, AP1S1, DYNC2H1, AP4E1, TMEM173, ALPL, FGD1, TSHR, TNNT2, GSC, FGF23, AVPR2, ATP8B1, AP4B1, TRAPPC9, FANCD2, PTPRC, NOTCH1, TRAPPC11, DNM1L, KAT6A, HCFC1, MC4R, GATA1, LCK, FAM20C, GPC3, DDX3X, DDHD2, PPARG, BMP1, FTCD, SERPINH1, IGF1, EXT1, SCNN1B, SLC4A1, CEP290, PPP2R1A, HLA-DRB1, HDAC6, FLNA, CASR, RAB33B, DYM, RAPSN, KIF1B, NDN, AKT1, SMARCA4, INPPL1, VDR, EXT2, PPIB, LRPPRC, NOTCH2, COL1A1, UBE3A, CDK5RAP2, FBN1, IKBKB, LARP7, EIF2AK3, SMC1A, MCM4, CDKN1C, ZBTB16, EFNB1, PEX5, TFAP2A, POMC, NEU1, SNAP29, DDOST, STAT3, RUNX2, SUMF1, SAR1B, OTC, PCSK1, TAT, COG4, JAGN1, LRP5, ZAP70, SLC9A1, AIMP1, NDUFS1, HCCS, ALB, AP4S1, NOS3, PRNP, SEC23A, B3GAT3, PTPN11, ATM, SOS2, JAK3, KMT2D, CFTR, SLC39A13, HNF1B, BMPR1B, CASK, STAT1, TP63, MAP3K1, RBMX, SOST, POLE, CEP57, MED12, BLM, FGFR2, IL6, GLA, GATA6, GPX4, L1CAM, INS, PCNA, TRH, CLASP1, B4GALT7, PTH1R, KCNJ2, TMEM165, HRAS, FANCL, LRP2, ATP7A, OCLN, VPS45, ATR, HSPG2, ESR1, SHH, DCTN1, ARSB, PIK3R1, SRCAP

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, OSTEOGENESIS IMPERFECTA, TYPE I, SMITH-MCCORT DYSPLASIA 2, CULLER-JONES SYNDROME, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, CAMURATI-ENGELMANN DISEASE, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA, OMODYSPLASIA 1, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, NOONAN SYNDROME 4, CZECH DYSPLASIA, HOLOPROSENCEPHALY-9, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, SMED STRUDWICK TYPE, BANNAYAN-RILEY-RUVALCABA SYNDROME, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, SED CONGENITA, TRYPSINOGEN DEFICIENCY, KNIEST DYSPLASIA, SPONDYLOPERIPHERAL DYSPLASIA, FUHRMANN SYNDROME, METAPHYSEAL CHONDRODYSPLASIA, SPAHR TYPE, STICKLER SYNDROME, TYPE I, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, MACROCEPHALY/AUTISM SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE XV, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, OSTEOGENESIS IMPERFECTA, TYPE IV, LEGG-CALVE-PERTHES DISEASE, SPONDYLOEPIPHYSEAL DYSPLASIA, KIMBERLEY TYPE, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE, METAPHYSEAL ANADYSPLASIA 1, EXOSTOSES, MULTIPLE, TYPE 2, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, ROBINOW SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE II, EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND DEAFNESS, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, SERKAL SYNDROME, PROTEUS SYNDROME, SOMATIC

WNT7A, ACAN, GPC6, PRSS1, COL1A1, PTEN, NOTCH1, TGFB1, NOS3, IL6, AGT, RAB33B, STAT3, LEP, AGRP, AKT1, WNT5A, IGF1R, MMP13, WNT1, MMP1, GPC3, SOS1, ROR2, EGFR, WNT4, SDC3, GLI2, HSPG2, EXT2, COL2A1, INS, MUSK, SHH

BARAITSER-WINTER SYNDROME 1, PARKINSON DISEASE 4, COLE-CARPENTER SYNDROME 1, ?NARCOLEPSY 1, CAMURATI-ENGELMANN DISEASE, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, HAJDU-CHENEY SYNDROME, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, 46XY SEX REVERSAL 6, DIABETES INSIPIDUS, NEPHROGENIC, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, DONNAI-BARROW SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, PYRUVATE KINASE DEFICIENCY, ?DYSTONIA, JUVENILE-ONSET, {METABOLIC SYNDROME, PROTECTION AGAINST}, ESTROGEN RESISTANCE, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, HYPERPARATHYROIDISM, NEONATAL, ANDERSEN SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, RENAL TUBULAR ACIDOSIS, DISTAL, AR, RENAL TUBULAR ACIDOSIS, DISTAL, AD, PROTEUS SYNDROME, SOMATIC

HCRT, LRP2, SNCA, ACTB, CASR, MTTP, SLC4A1, KCNJ2, AQP2, ARSB, MAP3K1, POMC, LEP, ESR1, NOTCH2, PLEC, INS, P4HB, TGFB1, AKT1, PKLR

BARAITSER-WINTER SYNDROME 1, IMMUNODEFICIENCY 15, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, MENTAL RETARDATION, AUTOSOMAL DOMINANT 35, MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2, MENTAL RETARDATION, X-LINKED, SYNDROMIC 34, COCKAYNE SYNDROME, TYPE A, OTOPALATODIGITAL SYNDROME, TYPE II, GLYCOGEN STORAGE DISEASE VI, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, GLASS SYNDROME, NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT, SHORT SYNDROME, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, NIJMEGEN BREAKAGE SYNDROME, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IX, BLOOM SYNDROME, CEREBROCOSTOMANDIBULAR SYNDROME, WIEDEMANN-STEINER SYNDROME, MELNICK-NEEDLES SYNDROME, INTERSTITIAL LUNG AND LIVER DISEASE, COCKAYNE SYNDROME, TYPE B, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA AND MICROGNATHIA, MEIER-GORLIN SYNDROME 1, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, WERNER SYNDROME, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, CARDIOFACIOCUTANEOUS SYNDROME, CAMURATI-ENGELMANN DISEASE, HUTCHINSON-GILFORD PROGERIA, CEREBROOCULOFACIOSKELETAL SYNDROME 4, DYSAUTONOMIA, FAMILIAL, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1, KLEEFSTRA SYNDROME, LEOPARD SYNDROME 3, MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE), CEREBELLAR HYPOPLASIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDAL LOCOMOTION 1, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE, TRICHOHEPATOENTERIC SYNDROME 1, LOEYS-DIETZ SYNDROME 2, KABUKI SYNDROME 2, PROPIONICACIDEMIA, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23, MANDIBULOACRAL DYSPLASIA, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, MENTAL RETARDATION, AUTOSOMAL DOMINANT 32, RUBINSTEIN-TAYBI SYNDROME, CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, RENAL CYSTS AND DIABETES SYNDROME, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE), ATAXIA-TELANGIECTASIA, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, {AUTISM, SUSCEPTIBILITY TO, 18}, FANCONI ANEMIA, COMPLEMENTATION GROUP A, POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY, ARTHYRGRYPOSIS, DISTAL, TYPE 2B, ARTHROGRYPOSIS, DISTAL, TYPE 2B, ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 2B, RAPADILINO SYNDROME, NEPHRONOPHTHISIS 4, BECKWITH-WIEDEMANN SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, INCONTINENTIA PIGMENTI, LEPRECHAUNISM, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, PERRY SYNDROME, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3, OCULOECTODERMAL SYNDROME, DIAMOND-BLACKFAN ANEMIA 8, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, ABDOMINAL OBESITY-METABOLIC SYNDROME 3, DIAMOND-BLACKFAN ANEMIA 6, NOONAN SYNDROME 9, FILS SYNDROME, ANGELMAN SYNDROME, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, ROTHMUND-THOMSON SYNDROME, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, COFFIN-SIRIS SYNDROME 3, STRIATONIGRAL DEGENERATION, INFANTILE, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA), KOOLEN-DE VRIES SYNDROME, OPSISMODYSPLASIA, MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE), 3-METHYLGLUTACONIC ACIDURIA, TYPE VII, WITH CATARACTS, NEUROLOGIC INVOLVEMENT AND NEUTROPENIA, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, MENTAL RETARDATION, X-LINKED, SYNDROMIC 15 (CABEZAS TYPE), RABSON-MENDENHALL SYNDROME, PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY, JOHANSON-BLIZZARD SYNDROME, MENTAL RETARDATION, X-LINKED 3 (METHYLMALONIC ACIDEMIA AND HOMOCYSTEINEMIA, CBLX TYPE ), CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, MENTAL RETARDATION, X-LINKED 98, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, GLYCOGEN STORAGE DISEASE, TYPE IXA1, GLYCOGEN STORAGE DISEASE, TYPE IXA2, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, PANCREATIC AGENESIS 1, MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE), 3-M SYNDROME 1, CULLER-JONES SYNDROME, COLE-CARPENTER SYNDROME 1, WEAVER SYNDROME, LUSCAN-LUMISH SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1, NOONAN SYNDROME 4, HOLOPROSENCEPHALY-9, ARTHROGRYPOSIS, DISTAL, TYPE 8, OTOPALATODIGITAL SYNDROME, TYPE I, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, GLYCOGEN STORAGE DISEASE IXC, LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, BALLER-GEROLD SYNDROME, ARTHROGRYPOSIS, DISTAL, TYPE 2A, DE SANCTIS-CACCHIONE SYNDROME, ?DYSTONIA, JUVENILE-ONSET, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, NOONAN SYNDROME 10, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, COFFIN-SIRIS SYNDROME 1, RESTRICTIVE DERMOPATHY, LETHAL, PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER), MUSCULAR DYSTROPHY, CONGENITAL, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, MACROCEPHALY/AUTISM SYNDROME, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, NICOLAIDES-BARAITSER SYNDROME, PERLMAN SYNDROME, ?CHARGE SYNDROME, CHARGE SYNDROME, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, CEREBELLOFACIODENTAL SYNDROME, CORNELIA DE LANGE SYNDROME 5, MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, OGDEN SYNDROME, MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2, CORNELIA DE LANGE SYNDROME 1, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, ENCEPHALOPATHY, NEONATAL SEVERE, WILSON-TURNER SYNDROME, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13, LOEYS-DIETZ SYNDROME 1, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, IMAGE SYNDROME, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II, CLOVE SYNDROME, SOMATIC, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, 46XY SEX REVERSAL 6, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, ANDROGEN INSENSITIVITY, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, INFANTILE CEREBELLAR-RETINAL DEGENERATION, ?SECKEL SYNDROME 8, CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES, PONTOCEREBELLAR HYPOPLASIA, TYPE 10, ?MICROCEPHALY 11, PRIMARY, AUTOSOMAL RECESSIVE, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, MYHRE SYNDROME, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IW, OROFACIODIGITAL SYNDROME I, MEIER-GORLIN SYNDROME 5, PHOSPHORYLASE KINASE DEFICIENCY OF LIVER AND MUSCLE, AUTOSOMAL RECESSIVE, NOONAN SYNDROME 7, ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM, METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, GABA-TRANSAMINASE DEFICIENCY, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY,; LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY,; LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY,; ?LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, HYPERTRIGLYCERIDEMIA, TRANSIENT INFANTILE, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, DIAMOND-BLACKFAN ANEMIA 7, XERODERMA PIGMENTOSUM, GROUP B, ?MICROPHTHALMIA, SYNDROMIC 1, BANNAYAN-RILEY-RUVALCABA SYNDROME, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 6, PALLISTER-HALL SYNDROME, RIDDLE SYNDROME, KABUKI SYNDROME 1, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, ?INFANTILE LIVER FAILURE SYNDROME 1, TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IE, ?NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI, LEOPARD SYNDROME 1, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

DYRK1B, DNA2, PHKB, POLR1A, LMNA, PRKAR1A, NAA10, PRKACA, ACTB, NDUFA11, IGBP1, IKBKG, RPS7, RPL5, NDUFA1, AGT, PCCB, PPARG, SDHA, STT3B, NPHP4, RECQL4, NDUFB3, EIF4A3, SOS1, KMT2A, CHD8, DST, ITCH, ERCC6, PEX7, NDUFB11, CDC6, NDUFS8, PIK3CA, NBN, POLE, EFEMP2, ERCC2, RNF168, SMAD4, IGF1, CREBBP, BLM, IKBKAP, DYNC2H1, SF3B4, PTEN, PCNT, ACTA1, SHOC2, VLDLR, CHD7, KRAS, CBL, CASP8, EGFR, LZTR1, PHKA2, AR, PYGL, PIGT, NOS3, AGPAT2, THRA, ERCC3, TTC37, BUB1B, ERCC1, NDUFA12, KIAA2022, TAF6, MECP2, ABAT, SUCLG1, GTPBP3, STT3A, SMARCE1, KMT2C, NR0B1, STAT1, TGFBR1, NDUFS2, TAF1, CUL7, NDUFA2, CLPB, ABCD4, CLP1, NDUFA9, GPD1, FBXL4, HCFC1, TP63, NUP62, POLA1, NDUFA10, SLC26A3, ABCC8, NDUFS7, SOS2, GATA1, PIGA, LARS, PPP1R15B, AGL, UBE2A, SMARCA2, HNF1B, MYH3, SETD2, HNF4A, SDHD, DIS3L2, UBR1, HLA-DRB1, HDAC6, CTDP1, TGFB1, BCS1L, PPP2R1A, PLK4, MTOR, KDM1A, AKT1, SMARCB1, KANSL1, VDR, NDUFS1, BRCA1, IGF1R, NONO, UBE3A, POLG, NDUFS6, MED17, MT-ND1, DCTN1, EZH2, GLI3, POLD1, PHC1, MCM4, CDKN1C, ORC1, GLI2, MUSK, ERCC8, MT-ND3, DDOST, KDM6A, PNPT1, RBCK1, RUNX2, OCLN, NDUFV1, PRKDC, NDUFS3, CUL4B, NDUFAF1, FLNA, POLR3A, HDAC8, PPP2R5D, INPPL1, BMPR1B, MT-ND4, PIK3R2, PHKG2, WRN, PTPN11, ATM, KMT2D, CFTR, BRF1, PDHA1, STAT3, MAP3K1, PCNA, INSR, NOTCH1, NDUFS4, NDUFV2, NDUFB9, BRAF, DPM1, MARS, RPL11, OFD1, INS, MT-ND5, SNRPB, CLASP1, P4HB, KAT6A, HRAS, ACO2, DNMT3B, PDX1, POLR3B, IKBKB, PEX2, ESR1, TGFBR2, TUFM, SATB2, TPM3, PIK3R1

POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, OTOPALATODIGITAL SYNDROME, TYPE II, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8, WOLFRAM SYNDROME, DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, MULTIPLE ENDOCRINE NEOPLASIA IIB, ACRODERMATITIS ENTEROPATHICA, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2, COLE-CARPENTER SYNDROME 2, CEREBRAL AMYLOID ANGIOPATHY, PRNP-RELATED, GERSTMANN-STRAUSSLER DISEASE, MENTAL RETARDATION, AUTOSOMAL DOMINANT 35, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, BARDET-BIEDL SYNDROME 17, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, EXOSTOSES, MULTIPLE, TYPE 1, MANDIBULOACRAL DYSPLASIA, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, INSOMNIA, FATAL FAMILIAL, COFFIN-LOWRY SYNDROME, PITUITARY HORMONE DEFICIENCY, COMBINED, 3, MEND SYNDROME, WEYERS ACROFACIAL DYSOSTOSIS, WEYERS ACRODENTAL DYSOSTOSIS, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IK, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, INCONTINENTIA PIGMENTI, HAJDU-CHENEY SYNDROME, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 53, MICROVILLUS INCLUSION DISEASE, PSEUDOHYPOALDOSTERONISM TYPE I, AUTOSOMAL DOMINANT, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, CRANIOFRONTONASAL DYSPLASIA, MENTAL RETARDATION, X-LINKED 102, CK SYNDROME, MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, FANCONI-BICKEL SYNDROME, ANGELMAN SYNDROME, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), PRADER-WILLI SYNDROME, SELECTIVE T-CELL DEFECT, HARTNUP DISORDER, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1, BRACHYDACTYLY, TYPE A1, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, LYSYL HYDROXYLASE 3 DEFICIENCY, IMMUNODEFICIENCY 12, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, KLEEFSTRA SYNDROME, NESTOR-GUILLERMO PROGERIA SYNDROME, GALACTOSE EPIMERASE DEFICIENCY, ?JOUBERT SYNDROME 22, ?ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS AND DIABETES MELLITUS, SKIN FRAGILITY-WOOLLY HAIR SYNDROME, BRACHYDACTYLY, TYPE E2, GLYCOGEN STORAGE DISEASE IA, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, ?WEBB-DATTANI SYNDROME, WARBURG MICRO SYNDROME 4, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, WIEDEMANN-STEINER SYNDROME, CLOVE SYNDROME, SOMATIC, ?N-ACETYLASPARTATE DEFICIENCY, AGAMMAGLOBULINEMIA 1, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IT, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, SCHNECKENBECKEN DYSPLASIA, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, GLYCOGEN STORAGE DISEASE IC, NICOLAIDES-BARAITSER SYNDROME, GROWTH HORMONE INSENSITIVITY, PARTIAL, CORNELIA DE LANGE SYNDROME 5, CRANIOLENTICULOSUTURAL DYSPLASIA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, LEBER CONGENITAL AMAUROSIS 1, NAIL-PATELLA SYNDROME, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, DESBUQUOIS DYSPLASIA 1, MENKES DISEASE, HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, MUSCULAR DYSTROPHY, RIGID SPINE, 1, PONTOCEREBELLAR HYPOPLASIA, TYPE 10, LATERAL MENINGOCELE SYNDROME, SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE, ?MICROCEPHALY 16, PRIMARY, AUTOSOMAL RECESSIVE, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IW, ABCD SYNDROME, GLUCOCORTICOID DEFICIENCY, DUE TO ACTH UNRESPONSIVENESS, EHLERS-DANLOS SYNDROME, TYPE VI, NOONAN SYNDROME 7, NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE ID, METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY, AGAMMAGLOBULINEMIA 3, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), MARFAN LIPODYSTROPHY SYNDROME, CHONDRODYSPLASIA PUNCTATA, X-LINKED DOMINANT, ?DIARRHEA 7, BRACHYOLMIA TYPE 3, WEILL-MARCHESANI SYNDROME 2, DOMINANT, TYROSINEMIA, TYPE II, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, LEOPARD SYNDROME 1, PROTEUS SYNDROME, SOMATIC, BARAITSER-WINTER SYNDROME 1, ?LICHTENSTEIN-KNORR SYNDROME, SMED STRUDWICK TYPE, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, DONNAI-BARROW SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 1, MELNICK-NEEDLES SYNDROME, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, BARTTER SYNDROME, TYPE 1, ARTHROGRYPOSIS, DISTAL, TYPE 8, LEOPARD SYNDROME 3, HYPOPHOSPHATASIA, INFANTILE, ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE, STORMORKEN SYNDROME, PSEUDOHYPOPARATHYROIDISM IC, PSEUDOPSEUDOHYPOPARATHYROIDISM, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2, MEIER-GORLIN SYNDROME 5, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, RENAL CYSTS AND DIABETES SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE IV, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, BILE ACID MALABSORPTION, PRIMARY, FOLATE MALABSORPTION, HEREDITARY, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4, CHONDRODYSPLASIA PUNCTATA, X-LINKED RECESSIVE, IMMUNODEFICIENCY 19, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 3, ?MITOCHONDRIAL MYOPATHY WITH LACTIC ACIDOSIS, EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND DEAFNESS, PITUITARY HORMONE DEFICIENCY, COMBINED, 1, PSEUDOHYPOALDOSTERONISM, TYPE I, STRIATONIGRAL DEGENERATION, INFANTILE, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 11, OLIVER-MCFARLANE SYNDROME, OPSISMODYSPLASIA, RABSON-MENDENHALL SYNDROME, CORTISONE REDUCTASE DEFICIENCY 2, WHITE-SUTTON SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IM, MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, NEPHRONOPHTHISIS 1, JUVENILE, MEDNIK SYNDROME, COACH SYNDROME, HYPERANDROGENISM, NONCLASSIC TYPE, DUE TO 21-HYDROXYLASE DEFICIENCY, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY, PALLISTER-HALL SYNDROME, MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME, ?RETINAL DYSTROPHY, JUVENILE CATARACTS, AND SHORT STATURE SYNDROME, MUSCULAR DYSTROPHY, CONGENITAL, NEPHROTIC SYNDROME, TYPE 1, ?OSTEOGENESIS IMPERFECTA, TYPE XII, NOONAN SYNDROME 10, SPONDYLOPERIPHERAL DYSPLASIA, PEROXISOME BIOGENESIS DISORDER 8B, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBL E TYPE, ESTROGEN RESISTANCE, ALAZAMI SYNDROME, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 2, DESBUQUOIS DYSPLASIA 2, EPIPHYSEAL CHONDRODYSPLASIA, MIURA TYPE, ELLIS-VAN CREVELD SYNDROME, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, ?IMMUNODEFICIENCY 22, ACROCAPITOFEMORAL DYSPLASIA, NETHERTON SYNDROME, MENTAL RETARDATION, X-LINKED 19, ?ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS, ROBINOW SYNDROME, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, BARDET-BIEDL SYNDROME 5, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, SECKEL SYNDROME 1, RENAL TUBULAR ACIDOSIS, DISTAL, AR, GELEOPHYSIC DYSPLASIA 2, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, DURSUN SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 4, AUTOSOMAL RECESSIVE, BRANCHIOOCULOFACIAL SYNDROME, LETHAL CONGENITAL CONTRACTURAL SYNDROME 3, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2, DIABETES INSIPIDUS, NEPHROGENIC, RETT SYNDROME, CONGENITAL VARIANT, 3MC SYNDROME 1, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC, NEPHRONOPHTHISIS 11, STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, SENIOR-LOKEN SYNDROME 9, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, LEGG-CALVE-PERTHES DISEASE, CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME, DIAMOND-BLACKFAN ANEMIA 1, {?OBESITY, SUSCEPTIBILITY TO, BMIQ18}, REVESZ SYNDROME, IMMUNODEFICIENCY 15, CAMURATI-ENGELMANN DISEASE, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, ?PRECOCIOUS PUBERTY, CENTRAL, 1, MENTAL RETARDATION, X-LINKED 3 (METHYLMALONIC ACIDEMIA AND HOMOCYSTEINEMIA, CBLX TYPE ), ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, DIAMOND-BLACKFAN ANEMIA 6, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, PONTOCEREBELLAR HYPOPLASIA, TYPE 1C, ?OSTEOGENESIS IMPERFECTA, TYPE X, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, MYOTUBULAR MYOPATHY, X-LINKED, METATROPIC DYSPLASIA, DENT DISEASE, RICKETS DUE TO DEFECT IN VITAMIN D 25-HYDROXYLATION, ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 11, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, LOEYS-DIETZ SYNDROME 2, {BARDET-BIEDL SYNDROME 14, MODIFIER OF}, ?BARDET-BIEDL SYNDROME 14, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 1, ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, DIABETES MELLITUS, TRANSIENT NEONATAL, 3, OSTEOGENESIS IMPERFECTA, TYPE III, BARDET-BIEDL SYNDROME 7, LEPRECHAUNISM, METAPHYSEAL CHONDRODYSPLASIA, MURK JANSEN TYPE, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, {METABOLIC SYNDROME, PROTECTION AGAINST}, PHELAN-MCDERMID SYNDROME, SPONDYLOOCULAR SYNDROME, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, DIAMOND-BLACKFAN ANEMIA 9, FILS SYNDROME, FANCONI RENOTUBULAR SYNDROME 2, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE, CHYLOMICRON RETENTION DISEASE, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, STIFF SKIN SYNDROME, CORNELIA DE LANGE SYNDROME 2, CRANIOOSTEOARTHROPATHY, HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE 1, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 1, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, RENAL TUBULAR ACIDOSIS, PROXIMAL, WITH OCULAR ABNORMALITIES, OSTEOGENESIS IMPERFECTA, TYPE I, CHIME SYNDROME, 3-M SYNDROME 1, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1, OCULOECTODERMAL SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE IX, OSTEOGENESIS IMPERFECTA, TYPE II, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, THYROTROPIN-RELEASING HORMONE DEFICIENCY, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, TRICHOHEPATOENTERIC SYNDROME 2, GROWTH HORMONE DEFICIENCY, ISOLATED PARTIAL, SJOGREN-LARSSON SYNDROME, LEIGH SYNDROME, FRENCH-CANADIAN TYPE, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MILD VARIANT, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, RENAL TUBULAR ACIDOSIS, DISTAL, AD, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, LOEYS-DIETZ SYNDROME 1, PARKINSON DISEASE 4, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42, KOSAKI OVERGROWTH SYNDROME, HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC, ?MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE, NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY, SESAME SYNDROME, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A, SINGLETON-MERTEN SYNDROME 2, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, BARDET-BIEDL SYNDROME 2, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, HYPOTHYROIDISM, CENTRAL, AND TESTICULAR ENLARGEMENT, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, MYHRE SYNDROME, SHORT STATURE WITH NONSPECIFIC SKELETAL ABNORMALITIES, ACROMICRIC DYSPLASIA, ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM, HYPOPHOSPHATEMIC RICKETS, ECTODERMAL DYSPLASIA 2, CLOUSTON TYPE, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, HYPOMAGNESEMIA 3, RENAL, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2, NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE, MASA SYNDROME, CRASH SYNDROME, EXOSTOSES, MULTIPLE, TYPE 2, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2, HYPERLIPOPROTEINEMIA, TYPE 1D, LEUKODYSTROPHY, HYPOMYELINATING, 3, HUNTINGTON DISEASE-LIKE 2, ?NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 13, BARDET-BIEDL SYNDROME 3, {OBESITY, SEVERE, SUSCEPTIBILITY TO, BMIQ9}, MULTIPLE SULFATASE DEFICIENCY, CZECH DYSPLASIA, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT SYNDROME, LYSINURIC PROTEIN INTOLERANCE, CEREBRAL DYSGENESIS, NEUROPATHY, ICHTHYOSIS, AND PALMOPLANTAR KERATODERMA SYNDROME, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, PONTOCEREBELLAR HYPOPLASIA TYPE 1A, COLE-CARPENTER SYNDROME 1, TRANSALDOLASE DEFICIENCY, CARDIOFACIOCUTANEOUS SYNDROME, STICKLER SYNDROME, TYPE I, HUTCHINSON-GILFORD PROGERIA, LYMPHEDEMA, HEREDITARY, III, CEREBELLAR HYPOPLASIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDAL LOCOMOTION 1, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, ULNAR-MAMMARY SYNDROME, GLYCOGEN STORAGE DISEASE XII, BRUCK SYNDROME 1, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, PETERS-PLUS SYNDROME, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13, PSEUDOHYPOPARATHYROIDISM IA, SMITH-LEMLI-OPITZ SYNDROME, NOONAN SYNDROME 4, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IV, ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES, BARDET-BIEDL SYNDROME 8, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C, ARTHYRGRYPOSIS, DISTAL, TYPE 2B, ARTHROGRYPOSIS, DISTAL, TYPE 2B, ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 2B, BARDET-BIEDL SYNDROME 4, DESMOSTEROLOSIS, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12, PERRY SYNDROME, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), GLUCOSE-6-PHOSPHATE TRANSPORT DEFECT, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2R, RUBINSTEIN-TAYBI SYNDROME, METHEMOGLOBINEMIA, TYPE II, METHEMOGLOBINEMIA, TYPE I, LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, BRUCK SYNDROME 2, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3, WITH RENAL TUBULAR ACIDOSIS, GLUCOSE/GALACTOSE MALABSORPTION, ARTHROGRYPOSIS, DISTAL, TYPE 2A, OSTEOGENESIS IMPERFECTA, TYPE XI, DEAFNESS, DYSTONIA, AND CEREBRAL HYPOMYELINATION, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IF, DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL, GALACTOSIALIDOSIS, CARNITINE DEFICIENCY, SYSTEMIC PRIMARY, ?MENTAL RETARDATION, X-LINKED, SYNDROMIC 11, SHASHI TYPE, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, ?BARDET-BIEDL SYNDROME 11, GM1-GANGLIOSIDOSIS, TYPE I, ?LAURENCE-MOON SYNDROME, CORNELIA DE LANGE SYNDROME 4, OTOPALATODIGITAL SYNDROME, TYPE I, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS, LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, SED CONGENITA, KNIEST DYSPLASIA, COFFIN-SIRIS SYNDROME 1, RESTRICTIVE DERMOPATHY, LETHAL, SENSORINEURAL DEAFNESS WITH MILD RENAL DYSFUNCTION, BARTTER SYNDROME, TYPE 4A, MACROCEPHALY/AUTISM SYNDROME, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, HYPERPARATHYROIDISM, NEONATAL, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), JOUBERT SYNDROME 8, CHILD SYNDROME, PARASTREMMATIC DWARFISM, HYPERTHYROIDISM, NONAUTOIMMUNE, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, RENPENNING SYNDROME, WILSON-TURNER SYNDROME, ANDROGEN INSENSITIVITY, WOLCOTT-RALLISON SYNDROME, DIABETES INSIPIDUS, NEPHROGENIC, PREMATURE AGING SYNDROME, PENTTINEN TYPE, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, HYPOPHOSPHATASIA, CHILDHOOD, SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY, MENTAL RETARDATION, X-LINKED SYNDROMIC, CHRISTIANSON TYPE, EIKEN SYNDROME, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, GM1-GANGLIOSIDOSIS, TYPE III, SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B-CELL/NATURAL KILLER-CELL POSITIVE, SEVERE COMBINED IMMUNODEFICIENCY, T-CELL NEGATIVE, B-CELL/NATURAL KILLER CELL-POSITIVE TYPE, MECKEL SYNDROME 4, BARDET-BIEDL SYNDROME 9, DIAMOND-BLACKFAN ANEMIA 7, CYSTINOSIS, ATYPICAL NEPHROPATHIC, CYSTINOSIS, NEPHROPATHIC, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, ERYTHRODERMA, CONGENITAL, WITH PALMOPLANTAR KERATODERMA, HYPOTRICHOSIS, AND HYPER IGE, PROTEINURIA, LOW MOLECULAR WEIGHT, WITH HYPERCALCIURIC NEPHROCALCINOSIS, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IE, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY,; LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY,; LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY,; ?LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, SMITH-KINGSMORE SYNDROME