RESPIRATORY

Associated diseases: ARTHROGRYPOSIS, DISTAL, TYPE 5, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8, HYPER-IGE RECURRENT INFECTION SYNDROME, PULMONARY ALVEOLAR MICROLITHIASIS, ?CORNEAL INTRAEPITHELIAL DYSKERATOSIS AND ECTODERMAL DYSPLASIA, OTOPALATODIGITAL SYNDROME, TYPE II, ACHONDROPLASIA, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8, THANATOPHORIC DYSPLASIA, TYPE I, CILIARY DYSKINESIA, PRIMARY, 1, WITH OR WITHOUT SITUS INVERSUS, PORPHYRIA, ACUTE INTERMITTENT, NONERYTHROID VARIANT, PORPHYRIA, ACUTE INTERMITTENT, DUCHENNE MUSCULAR DYSTROPHY, SELECTIVE T-CELL DEFECT, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, IMMUNODEFICIENCY, COMMON VARIABLE, 6, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IX, MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL, ?IMMUNODEFICIENCY 39, PONTOCEREBELLAR HYPOPLASIA, TYPE 1B, PULMONARY VENOOCCLUSIVE DISEASE 1, PSYCHOMOTOR RETARDATION, EPILEPSY, AND CRANIOFACIAL DYSMORPHISM, CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY, 3-METHYLCROTONYL-COA CARBOXYLASE 1 DEFICIENCY, OPITZ GBBB SYNDROME, TYPE II, MYASTHENIC SYNDROME, CONGENITAL, 19, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, SICKLE CELL ANEMIA, SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 4, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, NEMALINE MYOPATHY 10, MYASTHENIC SYNDROME, CONGENITAL, 4B, FAST-CHANNEL, HOLOCARBOXYLASE SYNTHETASE DEFICIENCY, EMERY-DREIFUSS MUSCULAR DYSTROPHY 5, AUTOSOMAL DOMINANT, NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIB, IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2J, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 1, RENAL TUBULAR DYSGENESIS, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4, NATIVE AMERICAN MYOPATHY, IMMUNODEFICIENCY 35, INSOMNIA, FATAL FAMILIAL, FAZIO-LONDE DISEASE, SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 3, SUSCEPTIBILITY TO}, {ASTHMA, ASPIRIN-INDUCED, SUSCEPTIBILITY TO}, ASTHMA AND NASAL POLYPS, WRINKLY SKIN SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL, LARSEN SYNDROME, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION, TRIMETHYLAMINURIA, IMMUNODEFICIENCY, COMMON VARIABLE, 10, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, ?MARDEN-WALKER SYNDROME, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY 17, CD3 GAMMA DEFICIENT, SINGLETON-MERTEN SYNDROME 1, MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT, ?CANDIDIASIS, FAMILIAL, 5, AUTOSOMAL RECESSIVE, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4, EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC, COMBINED D-2- AND L-2-HYDROXYGLUTARIC ACIDURIA, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), CILIARY DYSKINESIA, PRIMARY, 7, WITH OR WITHOUT SITUS INVERSUS, PRADER-WILLI SYNDROME, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 19, MUCOPOLYSACCHARIDOSIS TYPE IIID, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, ACROMELIC FRONTONASAL DYSOSTOSIS, JOUBERT SYNDROME 15, EPILEPSY, PYRIDOXINE-DEPENDENT, MYOPATHY, MYOFIBRILLAR, 5, MITOCHONDRIAL MYOPATHY, INFANTILE, TRANSIENT; MMIT, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME, LETHAL CONGENITAL CONTRACTURE SYNDROME 9, CAP MYOPATHY 2, NEMALINE MYOPATHY 4, AUTOSOMAL DOMINANT, PARAGANGLIOMAS 3, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 3, TIMOTHY SYNDROME, SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME, NESTOR-GUILLERMO PROGERIA SYNDROME, PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER), ARTS SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IU, TRIFUNCTIONAL PROTEIN DEFICIENCY, CRANIOMETAPHYSEAL DYSPLASIA, CILIARY DYSKINESIA, PRIMARY, 32, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, SHORT-RIB THORACIC DYSPLASIA 11 WITH OR WITHOUT POLYDACTYLY, PONTOCEREBELLAR HYPOPLASIA, TYPE 1C, MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 8, MICROPHTHALMIA, SYNDROMIC 9, EHLERS-DANLOS SYNDROME, TYPE VIIC, MYOPATHY, REDUCING BODY, X-LINKED, EARLY-ONSET, SEVERE, AGAMMAGLOBULINEMIA 1, CILIARY DYSKINESIA, PRIMARY, 6, CHOLESTERYL ESTER STORAGE DISEASE, WOLMAN DISEASE, HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, ?PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2, IMMUNODEFICIENCY, COMMON VARIABLE, 13, SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION, GLYCOGEN STORAGE DISEASE IC, IMMUNODEFICIENCY, COMMON VARIABLE, 5, MEIER-GORLIN SYNDROME 2, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 1, HEMOCHROMATOSIS TYPE 1, CILIARY DYSKINESIA, PRIMARY, 18, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IN, TUBEROUS SCLEROSIS-1, LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1, MYASTHENIC SYNDROME, CONGENITAL, 16, SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY, INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, VAN MALDERGEM SYNDROME 2, ASPARTYLGLUCOSAMINURIA, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO ITGA7 DEFICIENCY, DYSTONIA 24, PLEUROPULMONARY BLASTOMA, CPT DEFICIENCY, HEPATIC, TYPE II, AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY, MUSCULAR DYSTROPHY, RIGID SPINE, 1, MARSHALL-SMITH SYNDROME, SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE, TARP SYNDROME, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, SHORT-RIB THORACIC DYSPLASIA 8 WITH OR WITHOUT POLYDACTYLY, EHLERS-DANLOS SYNDROME, TYPE VI, NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY, COMMON VARIABLE, 4, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, RIGHT ATRIAL ISOMERISM, ?MYASTHENIC SYNDROME, CONGENITAL, 3A, SLOW-CHANNEL, JOUBERT SYNDROME 23, AGAMMAGLOBULINEMIA 3, ROIFMAN SYNDROME, THROMBOTIC THROMBOCYTOPENIC PURPURA, FAMILIAL, CHONDRODYSPLASIA PUNCTATA, X-LINKED DOMINANT, 2-METHYLBUTYRYLGLYCINURIA, HYPOMYELINATION, GLOBAL CEREBRAL, GAUCHER DISEASE, TYPE I, NETHERTON SYNDROME, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, IMMUNODEFICIENCY 20, EPISODIC PAIN SYNDROME, FAMILIAL, MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, PROTEUS SYNDROME, SOMATIC, MACROCEPHALY, ALOPECIA, CUTIS LAXA, AND SCOLIOSIS, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, GLUTAMINE DEFICIENCY, CONGENITAL, CILIARY DYSKINESIA, PRIMARY, 21, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2, PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 4, CILIARY DYSKINESIA, PRIMARY, 25, ATELOSTEOGENESIS, TYPE I, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, FOCAL DERMAL HYPOPLASIA, DONNAI-BARROW SYNDROME, NIJMEGEN BREAKAGE SYNDROME, HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3, 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, CILIARY DYSKINESIA, PRIMARY, 30, MELNICK-NEEDLES SYNDROME, PORPHYRIA, ACUTE HEPATIC, {LEAD POISONING, SUSCEPTIBILITY TO}, CILIARY DYSKINESIA, PRIMARY, 20, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, VACTERL ASSOCIATION, X-LINKED, AMYOTROPHIC LATERAL SCLEROSIS 19, MUCOPOLYSACCHARIDOSIS IS, MEIER-GORLIN SYNDROME 1, TRICHORHINOPHALANGEAL SYNDROME, TYPE I, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, FARBER LIPOGRANULOMATOSIS, BARE LYMPHOCYTE SYNDROME, TYPE I, DUE TO TAP2 DEFICIENCY, BARE LYMPHOCYTE SYNDROME, TYPE I, HYPOPHOSPHATASIA, INFANTILE, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 28, NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT, FAMILIAL MEDITERRANEAN FEVER, AR, MUCOLIPIDOSIS II ALPHA/BETA, JOUBERT SYNDROME 20, PROPIONICACIDEMIA, PITT-HOPKINS SYNDROME, DUANE-RADIAL RAY SYNDROME, ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME, IMMUNODEFICIENCY WITH HYPER IGM, TYPE 5, ?CRANIOECTODERMAL DYSPLASIA 4, CEREBROTENDINOUS XANTHOMATOSIS, FUCOSIDOSIS, ATAXIA-TELANGIECTASIA, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, RAINE SYNDROME, MYOPATHY, SPHEROID BODY, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5, NEPHRONOPHTHISIS 2, INFANTILE, CILIARY DYSKINESIA, PRIMARY, 33, PANCREATIC AND CEREBELLAR AGENESIS, CROUZON SYNDROME, DYSTONIA 27, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2, METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, DYSKERATOSIS CONGENITA, X-LINKED, VELOCARDIOFACIAL SYNDROME, ?RENAL HYPODYSPLASIA/APLASIA 2, PRIMARY PULMONARY HYPERTENSION, IMMUNODEFICIENCY 19, BEARE-STEVENSON CUTIS GYRATA SYNDROME, MARTSOLF SYNDROME, PSEUDOHYPOALDOSTERONISM, TYPE I, RHEUMATOID ARTHRITIS, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, MYOPATHY, MYOFIBRILLAR, 1, GELEOPHYSIC DYSPLASIA 1, ACHONDROGENESIS IB, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1, MUCOPOLYSACCHARIDOSIS IH, OPSISMODYSPLASIA, HERMANSKY-PUDLAK SYNDROME 2, VAN DEN ENDE-GUPTA SYNDROME, DIASTROPHIC DYSPLASIA, DIASTROPHIC DYSPLASIA, BROAD BONE-PLATYSPONDYLIC VARIANT, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IJ, IMMUNODEFICIENCY 36, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, MUCOPOLYSACCHARIDOSIS IVA, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC, SHWACHMAN-DIAMOND SYNDROME, NON-IMMUNE HYDROPS FETALIS, COACH SYNDROME, MECKEL SYNDROME 1, MUSCULAR DYSTROPHY, CONGENITAL, MYASTHENIC SYNDROME, CONGENITAL, 5, LETHAL CONGENITAL CONTRACTURE SYNDROME 7, COMMON VARIABLE IMMUNODEFICIENCY 1, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 2, MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE), SEVERE COMBINED IMMUNODEFICIENCY, B CELL-NEGATIVE, ?SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, FABRY DISEASE, FABRY DISEASE, CARDIAC VARIANT, [HEX A PSEUDODEFICIENCY], GM2-GANGLIOSIDOSIS, SEVERAL FORMS, TAY-SACHS DISEASE, MENTAL RETARDATION, AUTOSOMAL DOMINANT 40, DYSTONIA 25, ?MYASTHENIC SYNDROME, CONGENITAL, 18, FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY, ?MYASTHENIC SYNDROME, CONGENITAL, 3C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, IMMUNODEFICIENCY 23, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1F, CILIARY DYSKINESIA, PRIMARY, 13, DESBUQUOIS DYSPLASIA 2, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, {MYELOPROLIFERATIVE/LYMPHOPROLIFERATIVE NEOPLASMS, FAMILIAL (MULTIPLE TYPES), SUSCEPTIBILITY TO}, AURICULOCONDYLAR SYNDROME 1, OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS, CILIARY DYSKINESIA, PRIMARY, 28, ?IMMUNODEFICIENCY 22, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3, KRABBE DISEASE, ATYPICAL, BIOTINIDASE DEFICIENCY, DIAMOND-BLACKFAN ANEMIA 10, IMMUNODEFICIENCY 11, ?IMMUNODEFICIENCY 13, CHOPS SYNDROME, DEHYDRATED HEREDITARY STOMATOCYTOSIS WITH OR WITHOUT PSEUDOHYPERKALEMIA AND/OR PERINATAL EDEMA, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, POLYCYSTIC LIVER DISEASE, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, BLOOM SYNDROME, MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2, FIBROCHONDROGENESIS 2, MUCOPOLYSACCHARIDOSIS, MPS-III-A, CILIARY DYSKINESIA, PRIMARY, 26, ESCOBAR SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, GELEOPHYSIC DYSPLASIA 2, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, DURSUN SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 4, AUTOSOMAL RECESSIVE, LETHAL CONGENITAL CONTRACTURAL SYNDROME 3, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), JOUBERT SYNDROME 5, COMPLEMENT FACTOR I DEFICIENCY, ULNAR-MAMMARY SYNDROME, ?IMMUNODEFICIENCY 37, GREENBERG SKELETAL DYSPLASIA, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2, RENAL-HEPATIC-PANCREATIC DYSPLASIA 1, ?HYDROXYKYNURENINURIA, JOUBERT SYNDROME 6, TUMOR PREDISPOSITION SYNDROME, FRONTOTEMPORAL LOBAR DEGENERATION, TARDBP-RELATED, AMYOTROPHIC LATERAL SCLEROSIS 10, WITH OR WITHOUT FTD, CILIARY DYSKINESIA, PRIMARY, 17, ?MICROPHTHALMIA, SYNDROMIC 1, IMMUNODEFICIENCY 9, IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY, MYOPATHY WITH POSTURAL MUSCLE ATROPHY, X-LINKED, CPT II DEFICIENCY, LETHAL NEONATAL, GAUCHER DISEASE, TYPE II, LOEYS-DIETZ SYNDROME 4, CEROID LIPOFUSCINOSIS, NEURONAL, 10, CILIARY DYSKINESIA, PRIMARY, 2, HETEROTAXY, VISCERAL, 7, AUTOSOMAL, ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED, HERMANSKY-PUDLAK SYNDROME 7, BASAL CELL NEVUS SYNDROME, IMMUNODEFICIENCY 15, ?MYASTHENIC SYNDROME, CONGENITAL, 2C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, SEIZURES, BENIGN FAMILIAL INFANTILE, 3, SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 1, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, PEUTZ-JEGHERS SYNDROME, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, ?PHOSPHOENOLPYRUVATE CARBOXYKINASE-1, CYTOSOLIC, DEFICIENCY, LONG QT SYNDROME 13, BROWN-VIALETTO-VAN LAERE SYNDROME 2, MYASTHENIC SYNDROME, CONGENITAL, 10, JOUBERT SYNDROME 25, CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, ANGIOEDEMA, HEREDITARY, TYPE III, ?OSTEOGENESIS IMPERFECTA, TYPE X, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, MYOTUBULAR MYOPATHY, X-LINKED, AGAMMAGLOBULINEMIA 2, POIKILODERMA, HEREDITARY FIBROSING, WITH TENDON CONTRACTURES, MYOPATHY, AND PULMONARY FIBROSIS, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IC, METATROPIC DYSPLASIA, KAUFMAN OCULOCEREBROFACIAL SYNDROME, SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2, MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 WITH HYPERGLYCINEMIA, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 6, MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY, MUCOPOLYSACCHARIDOSIS TYPE IIIB (SANFILIPPO B), MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, AGNATHIA-OTOCEPHALY COMPLEX, PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, MYASTHENIC SYNDROME, CONGENITAL, 3B, FAST-CHANNEL, IMMUNODEFICIENCY 43, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, PONTOCEREBELLAR HYPOPLASIA, TYPE 6, GAUCHER DISEASE, PERINATAL LETHAL, SADDAN, SPASTIC PARAPLEGIA 49, AUTOSOMAL RECESSIVE, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, PULMONARY HYPERTENSION, PRIMARY, 3, PNEUMOTHORAX, PRIMARY SPONTANEOUS, OSTEOGENESIS IMPERFECTA, TYPE III, HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION, SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 5, NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, NEUROPATHY, CONGENITAL HYPOMYELINATING, REDUCING BODY MYOPATHY, X-LINKED 1B, WITH LATE CHILDHOOD OR ADULT ONSET, CD8 DEFICIENCY, FAMILIAL, NEU-LAXOVA SYNDROME 1, DIAMOND-BLACKFAN ANEMIA 6, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, ?COENZYME Q10 DEFICIENCY, PRIMARY, 8, FRONTOMETAPHYSEAL DYSPLASIA, GLUTARIC ACIDEMIA IIA, GLUTARIC ACIDEMIA IIC, GLUTARIC ACIDEMIA IIB, CENTRONUCLEAR MYOPATHY 5, OSTEOCHONDRODYSPLASIA, COMPLEX LETHAL, SYMOENS-BARNES-GISTELINCK TYPE, FILS SYNDROME, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, HYDROLETHALUS SYNDROME, {PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1}, AURICULOCONDYLAR SYNDROME 2, MICROPHTHALMIA, SYNDROMIC 12, PONTOCEREBELLAR HYPOPLASIA TYPE 4, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, BETHLEM MYOPATHY 1, EMPHYSEMA DUE TO AAT DEFICIENCY, HEMORRHAGIC DIATHESIS DUE TO \'ANTITHROMBIN\' PITTSBURGH, EMPHYSEMA-CIRRHOSIS, DUE TO AAT DEFICIENCY, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3, DYSAUTONOMIA, FAMILIAL, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIB, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11, EXOCRINE PANCREATIC INSUFFICIENCY, DYSERYTHROPOIETIC ANEMIA, AND CALVARIAL HYPEROSTOSIS, SERKAL SYNDROME, HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, 3-M SYNDROME 1, ALTERNATING HEMIPLEGIA OF CHILDHOOD 2, KAPPA LIGHT CHAIN DEFICIENCY, AGAMMAGLOBULINEMIA 6, MYOKYMIA, SEIZURES, BENIGN NEONATAL, 1, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 3, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 26, THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 2, OSTEOGENESIS IMPERFECTA, TYPE II, IMMUNODEFICIENCY 14, METHYLMALONIC ACIDURIA CBLB TYPE, THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT, ?TETRA-AMELIA SYNDROME, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, ?SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY, ?JOUBERT SYNDROME 26, VICI SYNDROME, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY, COMMON VARIABLE, 7, IMMUNODEFICIENCY DUE TO PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY, SPINAL MUSCULAR ATROPHY WITH PROGRESSIVE MYOCLONIC EPILEPSY, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, MUCOPOLYSACCHARIDOSIS IH/S, NIEMANN-PICK DISEASE, TYPE B, LEIGH SYNDROME, FRENCH-CANADIAN TYPE, JOUBERT SYNDROME 21, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MILD VARIANT, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, CEREBELLOFACIODENTAL SYNDROME, ?MYOPATHY, ISOLATED MITOCHONDRIAL, AUTOSOMAL DOMINANT, RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL, CORNELIA DE LANGE SYNDROME 1, IMMUNODEFICIENCY, COMMON VARIABLE, 2, HEART BLOCK, PROGRESSIVE, TYPE IA, HEART BLOCK, NONPROGRESSIVE, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-2, JOUBERT SYNDROME-3, COMBINED SAP DEFICIENCY, MEIER-GORLIN SYNDROME 4, PELIZAEUS-MERZBACHER DISEASE, DYSTONIA 6, TORSION, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, AMYOTROPHIC LATERAL SCLEROSIS 17, AMYOTROPHIC LATERAL SCLEROSIS 21, SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE, COPROPORPHYRIA, HARDEROPORPHYRIA, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIJ, HYPER-IGE RECURRENT INFECTION SYNDROME, AUTOSOMAL RECESSIVE, PARAMYOTONIA CONGENITA, OPITZ-KAVEGGIA SYNDROME, SENGERS SYNDROME, SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, HETEROTAXY, VISCERAL, 2, AUTOSOMAL, AGAMMAGLOBULINEMIA 4, MCKUSICK-KAUFMAN SYNDROME, FAMILIAL MEDITERRANEAN FEVER, AD, GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE III, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, MYOPATHY, MYOFIBRILLAR, 2, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, D-2-HYDROXYGLUTARIC ACIDURIA, MYHRE SYNDROME, ASPARAGINE SYNTHETASE DEFICIENCY, STUVE-WIEDEMANN SYNDROME/SCHWARTZ-JAMPEL TYPE 2 SYNDROME, RENAL ADYSPLASIA, CUTIS LAXA, AD, HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES, MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY, C1R/C1S DEFICIENCY, COMBINED, ?IMMUNODEFICIENCY, COMMON VARIABLE, 11, FEINGOLD SYNDROME, PALLISTER-HALL SYNDROME, AICARDI-GOUTIERES SYNDROME 4, HERMANSKY-PUDLAK SYNDROME 1, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, {BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF}, POLYCYSTIC KIDNEY AND HEPATIC DISEASE, APERT SYNDROME, ?MYASTHENIC SYNDROME, CONGENITAL, 17, CILIARY DYSKINESIA, PRIMARY, 29, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2, IMMUNODEFICIENCY, COMMON VARIABLE, 12, CILIARY DYSKINESIA, PRIMARY, 23, SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME, {AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE}, ?NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, CILIARY DYSKINESIA, PRIMARY, 19, SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE-DAGHER-MELIKE TYPE, SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, CONGENITAL MYASTHENIC SYNDROME 1B, FAST-CHANNEL, NEMALINE MYOPATHY 9, NEMALINE MYOPATHY 1, AUTOSOMAL DOMINANT OR RECESSIVE, CAP MYOPATHY 1, THANATOPHORIC DYSPLASIA, TYPE II, MITOCHONDRIAL DNA DEPLETION SYNDROME 11, FRASER SYNDROME, BROWN-VIALETTO-VAN LAERE SYNDROME 1, MYOTONIA CONGENITA, ATYPICAL, ACETAZOLAMIDE-RESPONSIVE, IMMUNODEFICIENCY 21, ALSTROM SYNDROME, KEUTEL SYNDROME, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 5, DIAMOND BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS, LYSINURIC PROTEIN INTOLERANCE, CHONDRODYSPLASIA, BLOMSTRAND TYPE, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, CEREBROCOSTOMANDIBULAR SYNDROME, PONTOCEREBELLAR HYPOPLASIA TYPE 1A, INTERSTITIAL LUNG AND LIVER DISEASE, AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION SYNDROME, PARAGANGLIOMAS 2, TRANSALDOLASE DEFICIENCY, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, CILIARY DYSKINESIA, PRIMARY, 5, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, MYOPATHY, TUBULAR AGGREGATE, 1, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, LYMPHEDEMA, HEREDITARY, III, JOUBERT SYNDROME 17, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, COENZYME Q10 DEFICIENCY, PRIMARY, 5, AGAMMAGLOBULINEMIA, X-LINKED 1, AURICULOCONDYLAR SYNDROME 3, APLASIA OF LACRIMAL AND SALIVARY GLANDS, IMMUNODEFICIENCY, PRIMARY, AUTOSOMAL RECESSIVE, IL21R-RELATED, RETT SYNDROME, CONGENITAL VARIANT, MENTAL RETARDATION, AUTOSOMAL DOMINANT 32, RUBINSTEIN-TAYBI SYNDROME, DIAPHANOSPONDYLODYSOSTOSIS, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14, BARDET-BIEDL SYNDROME 16, SMITH-LEMLI-OPITZ SYNDROME, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE, SHORT-RIB THORACIC DYSPLASIA 13 WITH OR WITHOUT POLYDACTYLY, LEUKODYSTROPHY, HYPOMYELINATING, 4, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, BIRT-HOGG-DUBE SYNDROME, ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES, THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, VLCAD DEFICIENCY, MENTAL RETARDATION, AUTOSOMAL DOMINANT 31, COENZYME Q10 DEFICIENCY, PRIMARY, 7, XIA-GIBBS SYNDROME, ?RENAL-HEPATIC-PANCREATIC DYSPLASIA 2, PERRY SYNDROME, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), 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, MYASTHENIC SYNDROME, CONGENITAL, 8, WITH PRE- AND POSTSYNAPTIC DEFECTS, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2R, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, METHEMOGLOBINEMIA, TYPE II, METHEMOGLOBINEMIA, TYPE I, SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3, MEIER-GORLIN SYNDROME 3, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY, HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2, NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VI, URBACH-WIETHE DISEASE, NEMALINE MYOPATHY 7, AUTOSOMAL RECESSIVE, WHITE SPONGE NEVUS 2, THROMBOPHILIA DUE TO ANTITHROMBIN III DEFICIENCY, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2, JOUBERT SYNDROME 2, MUCOPOLYSACCHARIDOSIS II, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6, CILIARY DYSKINESIA, PRIMARY, 24, PITT-HOPKINS-LIKE SYNDROME 2, ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS, THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE, LETHAL CONGENITAL CONTRACTURE SYNDROME 1, MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA), {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1E, TUBEROUS SCLEROSIS 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IF, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, SEVERE COMBINED IMMUNODEFICIENCY, ATHABASCAN TYPE, VAN MALDERGEM SYNDROME 1, OMENN SYNDROME, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, CHRONIC GRANULOMATOUS DISEASE, AUTOSOMAL, DUE TO DEFICIENCY OF CYBA, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, TENORIO SYNDROME, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 2, OSTEOGLOPHONIC DYSPLASIA, NIEMANN-PICK DISEASE, TYPE A, WIEACKER-WOLFF SYNDROME, SHPRINTZEN-GOLDBERG SYNDROME, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 30, IMMUNODEFICIENCY, COMMON VARIABLE, 3, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIC, GLYCOGEN STORAGE DISEASE II, NIEMANN-PICK DISEASE, TYPE C2, SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 1, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED, COMBINED IMMUNODEFICIENCY, X-LINKED, MODERATE, GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME, {SUDDEN INFANT DEATH SYNDROME, SUSCEPTIBILITY TO}, ?MYOSCLEROSIS, CONGENITAL, SED CONGENITA, KNIEST DYSPLASIA, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, COFFIN-SIRIS SYNDROME 1, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, RESTRICTIVE DERMOPATHY, LETHAL, EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS, HYPEREKPLEXIA 3, HYPERAMMONEMIA DUE TO CARBONIC ANHYDRASE VA DEFICIENCY, GENITOPATELLAR SYNDROME, SPONDYLOCOSTAL DYSOSTOSIS 1, AUTOSOMAL RECESSIVE, HYPERPARATHYROIDISM, NEONATAL, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, {APLASTIC ANEMIA}, CILIARY DYSKINESIA, PRIMARY, 27, JOUBERT SYNDROME 8, CHILD SYNDROME, IMMUNODEFICIENCY 8, SECKEL SYNDROME 9, RIDDLE SYNDROME, JOUBERT SYNDROME 7, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, POIKILODERMA WITH NEUTROPENIA, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, ENCEPHALOPATHY, NEONATAL SEVERE, FANCONI ANEMIA, COMPLEMENTATION GROUP L, EHLERS-DANLOS SYNDROME, TYPE IV, COLD-INDUCED SWEATING SYNDROME 1, PARAGANGLIOMAS 1, WITH OR WITHOUT DEAFNESS, ATELOSTEOGENESIS II, DE LA CHAPELLE DYSPLASIA, MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY, JOUBERT SYNDROME 14, MYOPATHY, MYOFIBRILLAR, 6, ANGIOEDEMA, HEREDITARY, TYPES I AND II, RENPENNING SYNDROME, HEREDITARY MOTOR AND SENSORY NEUROPATHY VIA, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, CONGENITAL HEART DEFECTS, NONSYNDROMIC, 1, X-LINKED, HETEROTAXY, VISCERAL, 1, X-LINKED, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1, CARDIOMYOPATHY, HYPERTROPHIC, 17, AMYOTROPHIC LATERAL SCLEROSIS 5, JUVENILE, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 7, PEELING SKIN SYNDROME 1, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2, SUDDEN INFANT DEATH WITH DYSGENESIS OF THE TESTES SYNDROME, PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER), MUCOPOLYSACCHARIDOSIS TYPE IIIC (SANFILIPPO C), CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IT, CILIARY DYSKINESIA, PRIMARY, 16, LARYNGOONYCHOCUTANEOUS SYNDROME, OPITZ GBBB SYNDROME, TYPE I, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, JOUBERT SYNDROME 18, HETEROTAXY, VISCERAL, 6, AUTOSOMAL RECESSIVE, MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, CRANIOFACIAL DYSMORPHISM, AND CONGENITAL HEART DEFECTS, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2C, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1, HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS, WISKOTT-ALDRICH SYNDROME, SPINAL MUSCULAR ATROPHY-1, CILIARY DYSKINESIA, PRIMARY, 22, NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIA, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1, MYASTHENIA, CONGENITAL, 12, WITH TUBULAR AGGREGATES, PULMONARY VENOOCCLUSIVE DISEASE 2, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 6, LETHAL CONGENITAL CONTRACTURE SYNDROME 4, CODAS SYNDROME, KABUKI SYNDROME 1, ERYTHRODERMA, CONGENITAL, WITH PALMOPLANTAR KERATODERMA, HYPOTRICHOSIS, AND HYPER IGE, HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IE, 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, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME-2

Associated genes: TSC2, RPL5, ADAMTS13, TMEM216, FGFR1, ZMYND10, TCTN3, LMNA, MID1, CC2D2A, LBR, CIITA, COL3A1, ANO3, FTL, SFTPA2, GUSB, LYRM7, B3GAT3, SDHA, HBB, TTC7A, UBA1, NSDHL, KCNH2, PROS1, TRIP4, B2M, DNAAF1, ENG, RANBP2, ITGA3, DPM2, NAGS, AGK, APOPT1, MS4A1, DNAAF5, POR, CYB5R3, DNAI2, CREBBP, TRMT5, DYNC2H1, JPH2, MYOT, LRBA, SCN4A, ALMS1, SIK1, ERBB3, MEGF10, NDUFAF3, NALCN, PTPN22, IRF5, CD79A, DNAAF3, CHAMP1, ALDH7A1, DAG1, CCDC151, ASAH1, MT-ND6, TAF6, BTD, PIK3CD, ALAD, SPINK1, IFNG, AIFM1, KIF1BP, IL10, SMARCE1, AHDC1, CCND1, TALDO1, JAK2, EFTUD2, SUCLA2, SPEG, SGSH, MKKS, HSPD1, HYDIN, ABCD4, RYR1, TNNT2, SH2D1A, ADAMTSL2, KMT2A, TYK2, NDUFS7, MT-CO1, TUFM, CAV3, BANF1, LMOD3, MGME1, MT-TE, IL2RA, SERPINC1, SCO2, NDUFA12, MTHFR, CHST14, GDNF, CEP290, C1R, IGHM, LRP5, IARS2, LEP, LAMA3, PCK1, NARS2, VMA21, INVS, HES7, TCTN1, NDUFA2, FZD6, AKT1, TAPBP, BLNK, DNAH14, LRPPRC, HFE, ARID1B, COX15, SCN2A, UNC119, GLI3, DNAH1, ORC1, GNE, MMAA, TSFM, ECHS1, HAMP, SCGB1A1, HAVCR1, MTM1, COQ9, RMND1, TNFRSF13B, SLC7A7, POLA1, HMBS, DPM1, SLC6A5, PIGC, CYBB, SEPN1, ACADVL, HABP2, LAMA2, WNT3, COL5A2, PIEZO2, RPS26, BCL10, DICER1, TSR2, MT-CO2, IER3IP1, IGLL1, EBP, RFXANK, NDUFS4, PCCA, DST, DNAAF2, FKTN, PTPRC, FKRP, SALL4, PHF11, KRT13, BDNF, SNRPB, CHAT, BRAT1, KAT6A, POMK, FANCL, EGFR, SARS2, TERT, CCDC65, EXOC8, PAX8, TAP2, NOP10, PEX5, NDUFS2, CCBE1, MMAB, GNPTAB, CYBA, TREX1, LRP4, TRAIP, NCF1, TECPR2, MKS1, DYX1C1, MFN2, CD8A, COL1A2, CHCHD10, SPECC1L, COL11A2, THAP1, D2HGDH, CDKN1B, ASCC1, NCF4, FCGR3A, RNU4ATAC, BMP2, MCCC2, NDUFB3, IDUA, ADGRG6, COL6A1, DNASE1, CD244, WT1, USB1, DNAH8, NEK8, DES, SPAG1, CDT1, PKHD1, GALNS, MEFV, CCDC174, PET100, CD79B, AARS2, IL2RG, CUL7, SF3B4, SBDS, SOX9, PCCB, KYNU, TGFB2, SLC26A2, SERPINA1, ADCY6, NDUFAF1, TRPV4, TMEM231, NOTCH1, MYCN, GNS, CORO1A, EDNRA, ECM1, CD3E, CTRC, EGR2, SNRPN, CFL2, AFF4, SUCLG1, EXOSC8, LIAS, TBX21, THSD1, CRYAB, MYOM1, RBM10, EDN3, NRAS, DNAH11, KAT6B, ZMPSTE24, FGFR3, FAT4, STAC3, ETFDH, GDF1, ACTA2, IL7R, AICDA, BOLA3, EPG5, NUBPL, SNAP25, NFKB2, MED12, STIM1, ALPL, ITGA8, MT-ATP6, KCNJ5, DNAJB6, SMAD9, HNMT, SNIP1, PTH1R, GMPPB, RIN2, UBE3B, ALOX5, TMEM70, SLC52A2, TSEN54, ANKH, SPINK5, GLUL, NDN, SCN4B, SLC5A7, NPHP3, ASCL1, NAGLU, FRAS1, FAM111B, LIPA, SOX18, NCF2, LRP2, IKBKB, CASP8, CDSN, FBN2, SCGB3A2, KCNQ2, FOXRED1, PGM3, ERBB4, FREM2, COQ4, NME8, PLP1, TUBB4A, MT-ND3, NDUFV1, DDX41, SH2B3, COL6A2, CHRNE, C21orf59, MTFMT, NDUFS1, SLC12A6, TBCK, ZC4H2, MRPL3, RFT1, XYLT1, HYLS1, PIP5K1C, COLQ, KMT2D, CFTR, IDS, STAT1, TSC1, ZBTB24, CACNA1C, RFX5, KCNJ8, PLG, ETFA, BLM, NIPBL, TINF2, WDR60, PIK3R1, OFD1, ATP1A3, DCLRE1C, AGA, CTLA4, FLNB, TMEM67, STRA6, ARL13B, MGP, EPOR, SLC25A20, HSPG2, FCGR2A, SKI, SYNE2, GPD1L, IL21, PLCB4, DCHS1, F2, CD3D, ADRB2, TPI1, SDHC, IFIH1, CYP27A1, TCTN2, PEX6, NRXN1, RSPH3, CAV1, NDUFA1, AGT, IGKC, GNAI3, MOGS, CDK5, WDR35, DNAH5, RPGRIP1L, BTK, TSPYL1, EIF4A3, IKZF1, STK11, KIAA0556, STAT3, CBL, IL21R, ARSB, FBP1, LRRC6, PLEKHG5, COX8A, LTBP4, BMPER, DNAI1, HADHA, SERPING1, NAA10, TBK1, PRKAG2, COL2A1, BAP1, MUSK, RARB, ACTA1, VRK1, GRIP1, ACVR1, PLEC, DSP, SCNN1G, NDUFAF6, CDKL5, ARMC4, GPC3, ORAI1, PGM1, SMN1, PARN, PTF1A, DNM2, TNF, SFTPB, GATA2, ACVRL1, SCNN1A, EDA, HEXA, SCARF2, MS4A2, RFXAP, GFPT1, PLOD1, PROC, NDUFAF4, HGSNAT, CRLF1, NFKBIA, ACP5, MYBPC1, MPC1, FKBP14, ADAMTS2, NDUFA9, NKX2-1, COX14, WAS, TBX1, PAM16, TMEM237, DLL3, KCNA5, FAM20C, CHMP2B, UBN1, DKC1, SMPD1, TNPO3, PEX1, PRSS1, KIAA0586, AGTR1, SDHD, G6PC3, SDCCAG8, HLA-DRB1, CNTN1, MMP21, VHL, USP9X, RAPSN, LTBP2, PSAP, TMEM173, FHL1, FBN1, MT-ND1, DCTN1, DNA2, COG4, ORC4, EDN1, ZBTB42, MCCC1, TTN, ACADSB, PTEN, F13A1, AMER1, COX10, CHRND, CFC1, AHI1, SSR4, JAGN1, CCNO, KCNQ1, MYH7, IL17RA, DHCR7, IL4R, SLC22A4, PTGER2, DOCK8, ABCA3, PRNP, JAK3, IGHMBP2, AP3B1, FGF10, TGFB1, REN, UPK3A, TP63, NEK1, TCF4, NFKBIL1, SOST, YARS2, POLE, SLC25A1, IL13, SCN5A, NDUFA10, WDR19, GBA, FASTKD2, GNAL, DRC1, LAMTOR2, F12, HRAS, POLG, NDUFS6, NDUFAF5, SFTPC, OCLN, ZAP70, BAG3, SLC25A12, PEX7, ZSWIM6, ISPD, SLC37A4, SDHAF2, FUCA1, NDUFS8, HLCS, COL1A1, FMO3, CHRNG, SLC52A3, RAG1, NDUFA11, TAPT1, PIGT, GAS8, MT-CO3, TAP1, SETBP1, TBX3, RNASEH1, NBN, IRF7, MUC5B, TFR2, COL5A1, MCIDAS, STT3B, TRPS1, DSG1, ELN, DDR2, TK2, CFAP53, COL6A3, CCDC103, PRPS1, COX6B1, RAB3GAP2, EFEMP2, SUFU, NEU1, COQ7, COX20, NDUFV2, SIX3, UNG, CEP104, RSPH1, SMAD4, COL13A1, CPT2, KIF7, NDUFB9, CNTNAP1, DNMT3B, ATP6V0A2, MATR3, TRPA1, WNT4, PTCH1, ACE, PRSS2, ASNS, FBLN5, TNFRSF13C, FCGR2B, FLCN, PLA2G7, SCNN1B, IFT172, CPOX, PIEZO1, DNAL1, TPM3, SQSTM1, PRRX1, TARDBP, PTCH2, LIFR, SCO1, NDUFAF2, COPA, LONP1, IKBKAP, CCDC114, AGRN, TPM2, ELOVL4, ZIC3, PDGFRA, MPZ, SLC35C1, ORC6, CD81, RSPH4A, POMT2, NLRP1, NFIX, KLHL41, NFU1, CTSD, BMPR2, SFTPA1, RET, PQBP1, GJA1, CCL11, CSF2RB, INPP5E, BCS1L, RPS28, PURA, CHRNB1, MECP2, SLC34A2, CSPP1, PADI4, DOK7, CASR, FOXF1, DMD, CHRNA1, TRIM2, FOXG1, IL1RN, MUC7, EIF2AK4, KRAS, HADHB, PRKDC, SLC25A26, SURF1, DTNBP1, CFI, C5orf42, SEC63, PHOX2B, ICOS, CEP120, RARS2, HLA-G, MCM4, ITCH, MPDU1, PIGN, RAG2, WDR34, ADA, NPC2, INPPL1, GAA, LYRM4, RUNX2, SELP, LCK, GLE1, FLNA, BIN1, RNF168, FLNC, CEP41, ATM, GLB1, SPG11, BRF1, ETFB, NFKB1, NEB, GRHL2, CD19, CARD11, SERPINH1, CEP57, FGFR2, RNASEH2A, PLCG2, CD3G, MARS, SGCG, GLA, CA5A, COX4I2, RTEL1, MT-ND5, TACO1, ATP5A1, DPAGT1, ARX, GALNT14, PNP, PRKCSH, FGF20, EXOSC3, ITGA7, RNF125, NHP2, MYH11, PHGDH, NDUFS3, CR2, SHH, HPS1, PORCN, TERC, HFE2