ABNORMALITY OF THE EYE, HP:0000478

Associated diseases: ROBINOW-SORAUF SYNDROME, PEROXISOME BIOGENESIS DISORDER 5B, HYPER-IGE RECURRENT INFECTION SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 24, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, MICROPHTHALMIA, ISOLATED 3, DIARRHEA 3, SECRETORY SODIUM, CONGENITAL, SYNDROMIC, ?CRANIOFACIAL ANOMALIES AND ANTERIOR SEGMENT DYSGENESIS SYNDROME, MULIBREY NANISM, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10, PONTOCEREBELLAR HYPOPLASIA, TYPE 1B, CEROID LIPOFUSCINOSIS NEURONAL 6, CONE-ROD DYSTROPHY 9, DYSAUTONOMIA, FAMILIAL, SICKLE CELL ANEMIA, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, OROFACIODIGITAL SYNDROME VI, CATARACT, JUVENILE, WITH MICROCORNEA AND GLUCOSURIA, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIH, LARON DWARFISM, MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE), RUIJS-AALFS SYNDROME, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1, CARPENTER SYNDROME 2, ARTHROGRYPOSIS, DISTAL, TYPE 3, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IJ, COFFIN-LOWRY SYNDROME, CORNEA PLANA CONGENITA, RECESSIVE, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, INCONTINENTIA PIGMENTI, MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL, SPINOCEREBELLAR ATAXIA 15, HOLOPROSENCEPHALY-4, ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION, GILLESPIE SYNDROME, SECKEL SYNDROME 7, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIM, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8, CK SYNDROME, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, ANGELMAN SYNDROME, FLOATING-HARBOR SYNDROME, PRADER-WILLI SYNDROME, CATARACT 14, MULTIPLE TYPES, ACROMELIC FRONTONASAL DYSOSTOSIS, NEUROFIBROMATOSIS, TYPE 1, BRAIN SMALL VESSEL DISEASE WITH OR WITHOUT OCULAR ANOMALIES, DIABETES INSIPIDUS, NEUROHYPOPHYSEAL, KAHRIZI SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 3, CATARACT 31, MULTIPLE TYPES, RIEGER OR AXENFELD ANOMALIES, AXENFELD-RIEGER SYNDROME, TYPE 3, NESTOR-GUILLERMO PROGERIA SYNDROME, RETINITIS PIGMENTOSA 60, ?RETINAL DYSTROPHY, JUVENILE CATARACTS, AND SHORT STATURE SYNDROME, CRANIOMETAPHYSEAL DYSPLASIA, HYPER-IGD SYNDROME, SPINOCEREBELLAR ATAXIA 19, RETINITIS PIGMENTOSA 49, MUCOPOLYSACCHARIDOSIS VII, MUENKE SYNDROME, OPSISMODYSPLASIA, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, ?FRONTONASAL DYSPLASIA 3, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE II, ABLEPHARON-MACROSTOMIA SYNDROME, ?AL-GAZALI-BAKALINOVA SYNDROME, STICKLER SYDROME, TYPE I, NONSYNDROMIC OCULAR, ?CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA, CRANIOLENTICULOSUTURAL DYSPLASIA, FRONTONASAL DYSPLASIA 2, TUBEROUS SCLEROSIS-1, LEBER CONGENITAL AMAUROSIS 1, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, GLAUCOMA 1, OPEN ANGLE, G, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, SCHIMKE IMMUNOOSSEOUS DYSPLASIA, TRISMUS-PSEUDOCAMPTODACTYLY SYNDROME, PEROXISOME BIOGENESIS DISORDER 11B, RETINITIS PIGMENTOSA 31, JOUBERT SYNDROME 23, FANCONI ANEMIA, COMPLEMENTATION GROUP D2, CARNEY COMPLEX, TYPE 1, APHAKIA, CONGENITAL PRIMARY, LEBER CONGENITAL AMAUROSIS 12, PITUITARY HORMONE DEFICIENCY, COMBINED, 5, GROWTH HORMONE DEFICIENCY WITH PITUITARY ANOMALIES, SEPTOOPTIC DYSPLASIA, NOONAN SYNDROME 7, RETINITIS PIGMENTOSA 69, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE, CORNEAL DYSTROPHY, LATTICE TYPE IIIA, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13, CHONDRODYSPLASIA PUNCTATA, X-LINKED DOMINANT, XERODERMA PIGMENTOSUM, GROUP B, SPINOCEREBELLAR ATAXIA 11, CATARACT 19, MULTIPLE TYPES, SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY, CONE-ROD DYSTROPHY 20, BOTHNIA RETINAL DYSTROPHY, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2, OPTIC ATROPHY 1, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1, WAARDENBURG SYNDROME, TYPE 4B, RETINITIS PIGMENTOSA 65, CONE-ROD DYSTROPHY 15, CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 1, FOCAL DERMAL HYPOPLASIA, DONNAI-BARROW SYNDROME, COACH SYNDROME, RETINITIS PIGMENTOSA, X-LINKED, AND SINORESPIRATORY INFECTIONS, WITH OR WITHOUT DEAFNESS, ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES, NEUROFIBROMATOSIS-NOONAN SYNDROME, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, OCCULT MACULAR DYSTROPHY, ACHROMATOPSIA-4, FARBER LIPOGRANULOMATOSIS, STORMORKEN SYNDROME, RETINITIS PIGMENTOSA 35, KABUKI SYNDROME 2, RETINITIS PIGMENTOSA 17, PIERSON SYNDROME, PSEUDOPSEUDOHYPOPARATHYROIDISM, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, MANDIBULOACRAL DYSPLASIA, SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2S, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5, ALAND ISLAND EYE DISEASE, CUTIS LAXA, AUTOSOMAL DOMINANT 3, SUBCORTICAL LAMINAL HETEROPIA, X-LINKED, LISSENCEPHALY, X-LINKED, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2, SOTOS SYNDROME 1, ACHROMATOPSIA-2, CONE-ROD DYSTROPHY 14, CONE DYSTROPHY-3, SPASTIC PARAPLEGIA 54, AUTOSOMAL RECESSIVE, GALACTOKINASE DEFICIENCY WITH CATARACTS, PITUITARY HORMONE DEFICIENCY, COMBINED, 1, RETINITIS PIGMENTOSA WITH OR WITHOUT SITUS INVERSUS, AMYLOIDOSIS, FINNISH TYPE, CORNEAL ENDOTHELIAL DYSTROPHY AND PERCEPTIVE DEAFNESS, HARP SYNDROME, HERMANSKY-PUDLAK SYNDROME 2, USHER SYNDROME, TYPE IIC, GPR98/PDZD7 DIGENIC, USHER SYNDROME, TYPE 2C, USHER SYNDROME, TYPE 2C, GPR98/PDZD7 DIGENIC, OROFACIODIGITAL SYNDROME V, BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS, TYPE 1, BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS, TYPE 2, LEGIUS SYNDROME, SEGAWA SYNDROME, RECESSIVE, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12, MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY, FANCONI ANEMIA, COMPLEMENTATION GROUP C, SCLEROSTEOSIS 1, JOUBERT SYNDROME 10, PERRAULT SYNDROME 1, PROLIDASE DEFICIENCY, ARTHROGRYPOSIS, DISTAL, TYPE 8, CATARACT 5, MULTIPLE TYPES, DE SANCTIS-CACCHIONE SYNDROME, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, GLYCEROL KINASE DEFICIENCY, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 13}, SPINOCEREBELLAR ATAXIA 2, FRAGILE X TREMOR/ATAXIA SYNDROME, NOONAN SYNDROME 10, THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME, CAMURATI-ENGELMANN DISEASE, PERSISTENT HYPERPLASTIC PRIMARY VITREOUS, AUTOSOMAL RECESSIVE, LEBER CONGENITAL AMAUROSIS 5, ?MYASTHENIC SYNDROME, CONGENITAL, 18, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1, BASEL-VANAGAIT-SMIRIN-YOSEF SYNDROME, DOYNE HONEYCOMB DEGENERATION OF RETINA, MYOPIA 21, AUTOSOMAL DOMINANT, AMYOTROPHY, HEREDITARY NEURALGIC, {BARDET-BIEDL SYNDROME 14, MODIFIER OF}, ?BARDET-BIEDL SYNDROME 14, DOOR SYNDROME, OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS, SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE, OHDO SYNDROME, X-LINKED, FIBROCHONDROGENESIS 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, LOEYS-DIETZ SYNDROME 5, NANOPHTHALMOS 2, CORNEAL DYSTROPHY, GROENOUW TYPE I, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 10, ?N SYNDROME, BRACHYDACTYLY, TYPE B2, SPINOCEREBELLAR ATAXIA 38, IRIDOGONIODYSGENESIS, TYPE 2, BRANCHIOOCULOFACIAL SYNDROME, RETINITIS PIGMENTOSA 11, CONE-ROD DYSTROPHY 6, 3MC SYNDROME 1, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2, STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, JOUBERT SYNDROME 6, RETINITIS PIGMENTOSA 1, PONTOCEREBELLAR HYPOPLASIA, TYPE 9, IRIS HYPOPLASIA AND GLAUCOMA, IRIDOGONIODYSGENESIS, TYPE 1, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME, ?MICROPHTHALMIA, SYNDROMIC 1, LEBER CONGENITAL AMAUROSIS 15, IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY, STARGARDT DISEASE 4, HEREDITARY MOTOR AND SENSORY NEUROPATHY VIA, DIAMOND-BLACKFAN ANEMIA 1, GLUT1 DEFICIENCY SYNDROME 1, INFANTILE ONSET, SEVERE, SJOGREN-LARSSON SYNDROME, PARKINSON DISEASE 15, AUTOSOMAL RECESSIVE, MACULAR DEGENERATION, EARLY-ONSET, SPASTIC PARAPLEGIA, OPTIC ATROPHY, AND NEUROPATHY, XERODERMA PIGMENTOSUM, TYPE F/COCKAYNE SYNDROME, XERODERMA PIGMENTOSUM, GROUP F, CEREBRAL CREATINE DEFICIENCY SYNDROME 1, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, WILSON DISEASE, SPASTIC ATAXIA 1, AUTOSOMAL DOMINANT, CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT, SINGLETON-MERTEN SYNDROME 1, ?NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1G, CEROID LIPOFUSCINOSIS, NEURONAL, 1, RETINITIS PIGMENTOSA 2, INFANTILE-ONSET MULTISYSTEM NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, ?TRICHOTHIODYSTROPHY 5, NONPHOTOSENSITIVE, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IC, SC PHOCOMELIA SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 7, SENIOR-LOKEN SYNDROME 5, FANCONI ANEMIA, COMPLEMENTATION GROUP J, FUCOSIDOSIS, MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 4, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, TRIGONOCEPHALY 2, DIABETES AND DEAFNESS, MATERNALLY INHERITED; MIDD, HARTSFIELD SYNDROME, SPINOCEREBELLAR ATAXIA 31, {PSEUDOXANTHOMA ELASTICUM, MODIFIER OF SEVERITY OF}, PSEUDOXANTHOMA ELASTICUM, OSTEOGENESIS IMPERFECTA, TYPE III, CEREBROOCULOFACIOSKELETAL SYNDROME 3, OPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, MENTAL RETARDATION, AND SEIZURES, METAPHYSEAL CHONDRODYSPLASIA, MURK JANSEN TYPE, NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 3, GREENBERG SKELETAL DYSPLASIA, PORPHYRIA, CONGENITAL ERYTHROPOIETIC, PHELAN-MCDERMID SYNDROME, SPONDYLOOCULAR SYNDROME, CENTRONUCLEAR MYOPATHY 5, YUNIS-VARON SYNDROME, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, MENTAL RETARDATION, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS, HYPERLIPOPROTEINEMIA, TYPE IB, GERODERMA OSTEODYSPLASTICUM, COMBINED SAP DEFICIENCY, PEROXISOME BIOGENESIS DISORDER 4B, MICROPHTHALMIA WITH LIMB ANOMALIES, PAPILLORENAL SYNDROME, HERMANSKY-PUDLAK SYNDROME 4, COLE-CARPENTER SYNDROME 1, ?RETINAL DYSTROPHY AND IRIS COLOBOMA WITH OR WITHOUT CATARACT, SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 2, XERODERMA PIGMENTOSUM, GROUP C, ETHYLMALONIC ENCEPHALOPATHY, CONE-ROD DYSTROPHY 5, TRIFUNCTIONAL PROTEIN DEFICIENCY, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, MEGALOCORNEA 1, X-LINKED, MYOTONIC DYSTROPHY 2, TRICHOHEPATOENTERIC SYNDROME 2, RETINITIS PIGMENTOSA-12, AUTOSOMAL RECESSIVE, USHER SYNDROME, TYPE 1D/F DIGENIC, USHER SYNDROME, TYPE 1D, JOUBERT SYNDROME 21, CHARCOT-MARIE-TOOTH NEUROPATHY, X-LINKED DOMINANT, 1, NYSTAGMUS 6, CONGENITAL, X-LINKED, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1, LEBER CONGENITAL AMAUROSIS 6, CATARACT 23, COENZYME Q10 DEFICIENCY, PRIMARY, 1, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES, TYPE A, 11, SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE, AYME-GRIPP SYNDROME, CONOTRUNCAL HEART MALFORMATIONS, VARIABLE, CONOTRUNCAL HEART MALFORMATIONS, PERSISTENT TRUNCUS ARTERIOSUS, DOUBLE-OUTLET RIGHT VENTRICLE, CONOTRUNCAL ANOMALY FACE SYNDROME, OPITZ-KAVEGGIA SYNDROME, SENGERS SYNDROME, COLORBLINDNESS, TRITAN, BARDET-BIEDL SYNDROME 5, MACULAR DYSTROPHY, VITELLIFORM, 2, EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1, MANITOBA OCULOTRICHOANAL SYNDROME, CATARACT 6, MULTIPLE TYPES, USHER SYNDROME, TYPE 1C, CORNEAL DYSTROPHY, AVELLINO TYPE, MYHRE SYNDROME, RETINITIS PIGMENTOSA 18, BLUE CONE MONOCHROMACY, MYASTHENIC SYNDROME, CONGENITAL, 4B, FAST-CHANNEL, PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER), MYOPIA, HIGH, WITH CATARACT AND VITREORETINAL DEGENERATION, MICROSPHEROPHAKIA AND/OR MEGALOCORNEA, WITH ECTOPIA LENTIS AND WITH OR WITHOUT SECONDARY GLAUCOMA, HYPOMAGNESEMIA 5, RENAL, WITH OCULAR INVOLVEMENT, MENTAL RETARDATION, X-LINKED 94, MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME, HYPOTRICHOSIS, CONGENITAL, WITH JUVENILE MACULAR DYSTROPHY, HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS, HYPERLIPOPROTEINEMIA, TYPE 1D, LEUKODYSTROPHY, HYPOMYELINATING, 3, IFAP SYNDROME WITH OR WITHOUT BRESHECK SYNDROME, ?NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, TEMTAMY PREAXIAL BRACHYDACTYLY SYNDROME, MARSHALL SYNDROME, CONGENITAL MYASTHENIC SYNDROME 1B, FAST-CHANNEL, MULTIPLE SULFATASE DEFICIENCY, ?MENTAL RETARDATION, AUTOSOMAL DOMINANT 22, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18, CEROID LIPOFUSCINOSIS, NEURONAL, 7, GALLOWAY-MOWAT SYNDROME, CONE-ROD DYSTROPHY 2, PRIMROSE SYNDROME, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, BARDET-BIEDL SYNDROME 6, TETRALOGY OF FALLOT, TETROLOGY OF FALLOT, ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, FANCONI ANEMIA, COMPLEMENTATION GROUP N, SENIOR-LOKEN SYNDROME 8, HYSTRIX-LIKE ICHTHYOSIS WITH DEAFNESS, CYCLIC VOMITING SYNDROME; CVS, SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY, OSTEOGENESIS IMPERFECTA, TYPE VIII, JOUBERT SYNDROME 16, MENTAL RETARDATION, AUTOSOMAL DOMINANT 32, DIAPHANOSPONDYLODYSOSTOSIS, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 13, HUNTINGTON DISEASE, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 31, XIA-GIBBS SYNDROME, OCULODENTODIGITAL DYSPLASIA, ALLAN-HERNDON-DUDLEY SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12, ?SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 15, COENZYME Q10 DEFICIENCY, PRIMARY, 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IU, POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4, HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2, CONE-ROD DYSTROPHY, RETINITIS PIGMENTOSA, JUVENILE, LEBER CONGENITAL AMAUROSIS 4, SHORT-RIB THORACIC DYSPLASIA 4 WITH OR WITHOUT POLYDACTYLY, MUCOPOLYSACCHARIDOSIS II, ROTHMUND-THOMSON SYNDROME, NEPHROTIC SYNDROME, TYPE 8, CHOROIDEREMIA, OSTEOGENESIS IMPERFECTA, TYPE XI, MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE), 3-METHYLGLUTACONIC ACIDURIA, TYPE VII, WITH CATARACTS, NEUROLOGIC INVOLVEMENT AND NEUTROPENIA, SPASTIC PARAPLEGIA 55, AUTOSOMAL RECESSIVE, CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, POLYARTERITIS NODOSA, CHILDHOOD-ONSET, FUMARASE DEFICIENCY, TUMOR PREDISPOSITION SYNDROME, USHER SYNDROME, TYPE 2A, {RETINAL DISEASE IN USHER SYNDROME TYPE IIA, MODIFIER OF}, METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY, LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, [SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES], [SKIN/HAIR/EYE PIGMENTATION 1, BLOND/BROWN HAIR], MICROPHTHALMIA WITH COLOBOMA 3, RESTRICTIVE DERMOPATHY, LETHAL, EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS, CATARACT 13 WITH ADULT I PHENOTYPE, IMMUNODEFICIENCY 10, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), ECTOPIA LENTIS, FAMILIAL, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1, POIKILODERMA WITH NEUTROPENIA, GALACTOSEMIA, FANCONI ANEMIA, COMPLEMENTATION GROUP L, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4, {DEAFNESS, AUTOSOMAL RECESSIVE 12, MODIFIER OF}, DEAFNESS, AUTOSOMAL RECESSIVE 12, CEROID LIPOFUSCINOSIS, NEURONAL, 3, CONE-ROD DYSTROPHY 19, RENPENNING SYNDROME, NEMALINE MYOPATHY 10, {CREUTZFELDT-JAKOB DISEASE, VARIANT, RESISTANCE TO}, CREUTZFELDT-JAKOB DISEASE, DUANE RETRACTION SYNDROME 2, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, RETINITIS PIGMENTOSA 19, GM1-GANGLIOSIDOSIS, TYPE II, SUDDEN INFANT DEATH WITH DYSGENESIS OF THE TESTES SYNDROME, AGAMMAGLOBULINEMIA 1, PONTOCEREBELLAR HYPOPLASIA, TYPE 8, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 11, NEWFOUNDLAND ROD-CONE DYSTROPHY, HAMAMY SYNDROME, BEAULIEU-BOYCOTT-INNES SYNDROME, CODAS SYNDROME, RETINITIS PIGMENTOSA 28, IMMUNODEFICIENCY, COMMON VARIABLE, 3, SUPRANUCLEAR PALSY, PROGRESSIVE, RETINITIS PIGMENTOSA-40, MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE), BARTTER SYNDROME, TYPE 2, AICARDI-GOUTIERES SYNDROME 7, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIN, SECKEL SYNDROME 2, SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION, HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL, CONE-ROD SYNAPTIC DISORDER, CONGENITAL NONPROGRESSIVE, CARASIL SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 19, DANON DISEASE, VAN BUCHEM DISEASE, CORNELIA DE LANGE SYNDROME 5, HYPOPARATHYROIDISM FAMILIAL ISOLATED, CEROID LIPOFUSCINOSIS, NEURONAL, 2, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3, MULTIPLE SYNOSTOSES SYNDROME 1, SALLA DISEASE, ?STEEL SYNDROME, DEMENTIA, FAMILIAL DANISH, {MACULAR DEGENERATION, AGE-RELATED, REDUCED RISK OF}, {?MACULAR DEGENERATION, AGE-RELATED}, {MACULAR DEGENERATION, AGE-RELATED, 1}, TRICHOMEGALY, FILIPPI SYNDROME, SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE, GAUCHER DISEASE, TYPE IIIC, HERMANSKY-PUDLAK SYNDROME 6, INSOMNIA, FATAL FAMILIAL, POLYMICROGYRIA, SYMMETRIC OR ASYMMETRIC, LEUKODYSTROPHY, HYPOMYELINATING, 11, MICROPHTHALMIA, SYNDROMIC 2, WEYERS ACROFACIAL DYSOSTOSIS, WEYERS ACRODENTAL DYSOSTOSIS, ICHTHYOSIS, X-LINKED, RETINITIS PIGMENTOSA 47, CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS, PEROXISOMAL ACYL-COA OXIDASE DEFICIENCY, MENTAL RETARDATION, AUTOSOMAL DOMINANT 34, CATARACT 11, MULTIPLE TYPES, CATARACT 11, SYNDROMIC, CRANIOFRONTONASAL DYSPLASIA, ?OPTIC ATROPHY 9, FRANK-TER HAAR SYNDROME, ?CATARACT 41, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, MENTAL RETARDATION, AUTOSOMAL DOMINANT 18, COMBINED D-2- AND L-2-HYDROXYGLUTARIC ACIDURIA, NIGHT BLINDNESS, CONGENITAL STATIONARY (COMPLETE), 1B, AUTOSOMAL RECESSIVE, SPINOCEREBELLAR ATAXIA 10, BORJESON-FORSSMAN-LEHMANN SYNDROME, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 16, ?ANIRIDIA, ANIRIDIA, CATARACT WITH LATE-ONSET CORNEAL DYSTROPHY, CARPENTER SYNDROME, HAY-WELLS SYNDROME, LYSYL HYDROXYLASE 3 DEFICIENCY, CATARACT 39, MULTIPLE TYPES, AUTOSOMAL DOMINANT, EMBERGER SYNDROME, HOLOPROSENCEPHALY-2, INFANTILE NEUROAXONAL DYSTROPHY 1, CULLER-JONES SYNDROME, RETINITIS PIGMENTOSA 59, ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA, NEURODEGENERATION WITH BRAIN IRON ACCULULATION 5, ?CATARACT 42, ATAXIA, CEREBELLAR, CAYMAN TYPE, GLYCOGEN STORAGE DISEASE IA, NANCE-HORAN SYNDROME, ?WEBB-DATTANI SYNDROME, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WIEDEMANN-STEINER SYNDROME, PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, CAVITARY OPTIC DISC ANOMALIES, CONE-ROD DYSTROPHY 3, 3-METHYLGLUTACONIC ACIDURIA, TYPE III, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IN, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4, RETINITIS PIGMENTOSA 72, COUSIN SYNDROME, NORRIE DISEASE, LEBER CONGENITAL AMAUROSIS 2, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES, NAIL-PATELLA SYNDROME, CHERUBISM, BARBER-SAY SYNDROME, ASPARTYLGLUCOSAMINURIA, CATARACT 40, X-LINKED, DESBUQUOIS DYSPLASIA 1, ?2,4-DIENOYL-COA REDUCTASE DEFICIENCY, KANZAKI DISEASE, MARSHALL-SMITH SYNDROME, MACULAR DYSTROPHY, VITELLIFORM, 3, PEROXISOME BIOGENESIS DISORDER 7B, WARBURG MICRO SYNDROME 1, LATERAL MENINGOCELE SYNDROME, CORTICAL MALFORMATIONS, OCCIPITAL, ?MICROCEPHALY 16, PRIMARY, AUTOSOMAL RECESSIVE, ABCD SYNDROME, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 38, KARTAGENER SYNDROME, EHLERS-DANLOS SYNDROME, TYPE VI, ?MYASTHENIC SYNDROME, CONGENITAL, 3A, SLOW-CHANNEL, USHER SYNDROME, TYPE 2D, HOLOPROSENCEPHALY-5, 2-METHYLBUTYRYLGLYCINURIA, HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME, TUMORAL CALCINOSIS, FAMILIAL, NORMOPHOSPHATEMIC, NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 1, WEILL-MARCHESANI SYNDROME 2, DOMINANT, TYROSINEMIA, TYPE II, LEOPARD SYNDROME 1, PROTEUS SYNDROME, SOMATIC, PHENYLKETONURIA, [HYPERPHENYLALANINEMIA, NON-PKU MILD], SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE, AORTIC ANEURYSM, FAMILIAL THORACIC 4, POLYNEUROPATHY, HEARING LOSS, ATAXIA, RETINITIS PIGMENTOSA, AND CATARACT, FANCONI ANEMIA, COMPLEMENTATION GROUP A, BENT BONE DYSPLASIA SYNDROME, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 29, WEISSENBACHER-ZWEYMULLER SYNDROME, CONE-ROD DYSTROPHY, X-LINKED, 3, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 10, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16, CEREBELLAR ATAXIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDAL LOCOMOTION 3, BLAU SYNDROME, SPINOCEREBELLAR ATAXIA 14, D-BIFUNCTIONAL PROTEIN DEFICIENCY, BULL'S EYE MACULOPATHY METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA, CHORIODAL DYSTROPHY, CENTRAL AREOLAR 2, ?PONTOCEREBELLAR HYPOPLASIA, TYPE 3, MEIER-GORLIN SYNDROME 1, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, LISSENCEPHALY 5, LEOPARD SYNDROME 3, ANAUXETIC DYSPLASIA, ?COLOBOMA, OCULAR, AUTOSOMAL RECESSIVE, PITT-HOPKINS SYNDROME, PSEUDOHYPOPARATHYROIDISM IA, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2, CATARACT 1, MULTIPLE TYPES, WEILL-MARCHESANI SYNDROME 3, RECESSIVE, CEREBROTENDINOUS XANTHOMATOSIS, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, ?MORNING GLORY DISC ANOMALY, COLOBOMA OF OPTIC NERVE, GAZE PALSY, HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS, OROFACIODIGITAL SYNDROME IV, RAINE SYNDROME, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME-2, RETINOSCHISIS, CORNEAL DYSTROPHY, THIEL-BEHNKE TYPE, NOONAN SYNDROME 9, NEPHROTIC SYNDROME, TYPE 5, WITH OR WITHOUT OCULAR ABNORMALITIES, NYSTAGMUS 1, CONGENITAL, X-LINKED, NYSTAGMUS, INFANTILE PERIODIC ALTERNATING, X-LINKED, JOUBERT SYNDROME 12, ACROCALLOSAL SYNDROME, SPINOCEREBELLAR ATAXIA 8, PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY, LEUKODYSTROPHY, HYPOMYELINATING, 2, MUCOPOLYSACCHARIDOSIS IH, BEHR SYNDROME, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4, MYOPATHY, TUBULAR AGGREGATE, 2, MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 3, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, MUCOLIPIDOSIS IV, WHITE-SUTTON SYNDROME, HEIMLER SYNDROME 1, MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC, NOONAN SYNDROME 8, MEDNIK SYNDROME, CHAR SYNDROME, RETINITIS PIGMENTOSA 37, TRICHOHEPATOENTERIC SYNDROME 1, MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME, KNOBLOCH SYNDROME 1, PEROXISOME BIOGENESIS DISORDER 3B, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5, PRIMARY LATERAL SCLEROSIS, JUVENILE, LEOPARD SYNDROME 2, BRITTLE CORNEA SYNDROME 2, FABRY DISEASE, FABRY DISEASE, CARDIAC VARIANT, PAROXYSMAL EXTREME PAIN DISORDER, 3-HYDROXYISOBUTRYL-COA HYDROLASE DEFICIENCY, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 2, OSTEOGENESIS IMPERFECTA, TYPE VII, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, NEU-LAXOVA SYNDROME 1, COLOBOMA, OCULAR, APPARENT MINERALOCORTICOID EXCESS, OCULOAURICULAR SYNDROME, KRABBE DISEASE, OPTIC DISC ANOMALIES WITH RETINAL AND/OR MACULAR DYSTROPHY, GRACILE BONE DYSPLASIA, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, KOSAKI OVERGROWTH SYNDROME, EPITHELIAL RECURRENT EROSION DYSTROPHY, ASPARAGINE SYNTHETASE DEFICIENCY, ESCOBAR SYNDROME, PIEBALDISM, LEUKODYSTROPHY, HYPOMYELINATING, 9, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14, VITREORETINOPATHY, NEOVASCULAR INFLAMMATORY, LEBER CONGENITAL AMAUROSIS 10, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VIII, NEPHRONOPHTHISIS 11, ?CANDIDIASIS, FAMILIAL, 8, SENIOR-LOKEN SYNDROME 9, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 1, NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, ACHROMATOPSIA-3, MENTAL RETARDATION, AUTOSOMAL DOMINANT 33, ERYTHERMALGIA, PRIMARY, SMALL FIBER NEUROPATHY, CEROID LIPOFUSCINOSIS, NEURONAL, 11, GAUCHER DISEASE, TYPE II, CEROID LIPOFUSCINOSIS, NEURONAL, 10, WARBURG MICRO SYNDROME 3, BASAL CELL NEVUS SYNDROME, LEBER CONGENITAL AMAUROSIS 11, {MACULAR DEGENERATION, AGE-RELATED, 13, SUSCEPTIBILITY TO}, MENTAL RETARDATION, AUTOSOMAL DOMINANT 35, STAPES ANKYLOSIS WITH BROAD THUMB AND TOES, BASAL LAMINAR DRUSEN, DIAMOND-BLACKFAN ANEMIA 5, BROWN-VIALETTO-VAN LAERE SYNDROME 2, MYASTHENIC SYNDROME, CONGENITAL, 10, WAARDENBURG SYNDROME, TYPE 4A, PONTOCEREBELLAR HYPOPLASIA, TYPE 1C, ?OSTEOGENESIS IMPERFECTA, TYPE X, KLIPPEL-FEIL SYNDROME 4, AUTOSOMAL RECESSIVE, WITH MYOPATHY AND FACIAL DYSMORPHISM, MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE), FANCONI ANEMIA, COMPLEMENTATION GROUP E, WARBURG MICRO SYNDROME 2, ?MYASTHENIC SYNDROME, CONGENITAL, 15, WITHOUT TUBULAR AGGREGATES, KLIPPEL-FEIL SYNDROME 3, AUTOSOMAL DOMINANT, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 2, TREACHER COLLINS SYNDROME 1, ?BARDET-BIEDL SYNDROME 19, EPISODIC ATAXIA/MYOKYMIA SYNDROME, LOEYS-DIETZ SYNDROME 2, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23, MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE), PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER), {EXFOLIATION SYNDROME, SUSCEPTIBILITY TO}, GAUCHER DISEASE, PERINATAL LETHAL, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, SPINOCEREBELLAR ATAXIA 21, NORUM DISEASE, AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 1, BARDET-BIEDL SYNDROME 7, MENTAL RETARDATION, X-LINKED, WITH CEREBELLAR HYPOPLASIA AND DISTINCTIVE FACIAL APPEARANCE, RETINITIS PIGMENTOSA 38, RETINAL ARTERIAL MACROANEURYSM WITH SUPRAVALVULAR PULMONIC STENOSIS, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1, BARTH SYNDROME, CATARACT 20, MULTIPLE TYPES, ?WINCHESTER SYNDROME, TERMINAL OSSEOUS DYSPLASIA, AGNATHIA-OTOCEPHALY COMPLEX, TEMPLE-BARAITSER SYNDROME, EXUDATIVE VITREORETINOPATHY 5, EPILEPSY, PROGRESSIVE MYOCLONIC 3, WITH OR WITHOUT INTRACELLULAR INCLUSIONS, CATARACT 15, MULTIPLE TYPES, NIGHT BLINDNESS, CONGENITAL STATIONARY (COMPLETE), 1F, AUTOSOMAL RECESSIVE, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIB, CATARACT 10, MULTIPLE TYPES, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, {KURU, SUSCEPTIBILITY TO}, CATARACT 44, DEAFNESS AND MYOPIA, BEARE-STEVENSON CUTIS GYRATA SYNDROME, CATARACT 12, MULTIPLE TYPES, AL-RAQAD SYNDROME, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, RETINITIS PIGMENTOSA 74, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 26, CEREBROOCULOFACIOSKELETAL SYNDROME 2, TRICHOTHIODYSTROPHY 3, PHOTOSENSITIVE, SPASTIC PARAPLEGIA 45, AUTOSOMAL RECESSIVE, OSTEOGENESIS IMPERFECTA, TYPE IX, OSTEOGENESIS IMPERFECTA, TYPE II, MENTAL RETARDATION, AUTOSOMAL DOMINANT 26, ?DYSTONIA, JUVENILE-ONSET, CONE-ROD DYSTROPHY 18, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, ?PERIVENTRICULAR NODULAR HETEROTOPIA 6, VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKODYSTROPHY, ?EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 2, SENIOR-LOKEN SYNDROME 7, MARINESCO-SJOGREN SYNDROME, LEBER CONGENITAL AMAUROSIS 16, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B, NIGHT BLINDNESS, CONGENITAL STATIONARY (COMPLETE), 1D, AUTOSOMAL RECESSIVE, ?CHARGE SYNDROME, CHARGE SYNDROME, JOUBERT SYNDROME 4, SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY, ALPORT SYNDROME, IMINOGLYCINURIA, DIGENIC, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER), RETINITIS PIGMENTOSA 33, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, HOLOPROSENCEPHALY 11, SEIZURES, CORTICAL BLINDNESS, MICROCEPHALY SYNDROME, ATAXIA, SPASTIC, 4, AUTOSOMAL RECESSIVE, PEROXISOME BIOGENESIS DISORDER 6B, COWDEN SYNDROME 5, ?MICROPHTHALMIA, SYNDROMIC 13, OROFACIODIGITAL SYNDROME I, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLD TYPE, HOMOCYSTINURIA, CBLD TYPE, VARIANT 1, METHYLMALONIC ACIDURIA, CBLD TYPE, VARIANT 2, DEAFNESS, AUTOSOMAL RECESSIVE 37, BRITTLE CORNEA SYNDROME 1, ?SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME, ACHALASIA-ADDISONIANISM-ALACRIMIA SYNDROME, CATARACT 2, MULTIPLE TYPES, SPINOCEREBELLAR ATAXIA 12, RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3, APERT SYNDROME, ?MYASTHENIC SYNDROME, CONGENITAL, 17, RETINITIS PIGMENTOSA 41, ALBINISM, BROWN OCULOCUTANEOUS, {ALBINISM, OCULOCUTANEOUS, TYPE II, MODIFIER OF}, ALBINISM, OCULOCUTANEOUS, TYPE II, CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GPAPP TYPE, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2, GLUTATHIONE SYNTHETASE DEFICIENCY, RETINITIS PIGMENTOSA 71, LEBER CONGENITAL AMAUROSIS 8, MITOCHONDRIAL DNA DEPLETION SYNDROME 11, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, ALSTROM SYNDROME, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, NIGHT BLINDNESS, CONGENITAL STATIONARY (INCOMPLETE), 2A, X-LINKED, MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE, SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE, ADENYLOSUCCINASE DEFICIENCY, ALTERNATING HEMIPLEGIA OF CHILDHOOD 2, SPONDYLOPEIMETAPHYSEAL DSYPLASIA, FADEN-ALKURAYA TYPE, ALBINISM, OCULOCUTANEOUS, TYPE IA, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6, STICKLER SYNDROME, TYPE I, ATAXIA, SPASTIC, 5, AUTOSOMAL RECESSIVE, ACYL-COA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF, BARDET-BIEDL SYNDROME 3, SPINOCEREBELLAR ATAXIA 28, TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE SYNDROME, GLYCOGEN STORAGE DISEASE XII, PETERS-PLUS SYNDROME, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13, DUANE-RADIAL RAY SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 21, SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14, CEROID LIPOFUSCINOSIS, NEURONAL, 8, LEBER OPTIC ATROPHY AND DYSTONIA, BARDET-BIEDL SYNDROME 8, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 3, TRICHOTHIODYSTROPHY 4, NONPHOTOSENSITIVE, LEBER CONGENITAL AMAUROSIS 7, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), MYASTHENIC SYNDROME, CONGENITAL, 8, WITH PRE- AND POSTSYNAPTIC DEFECTS, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, AICA-RIBOSIDURIA DUE TO ATIC DEFICIENCY, MUCKLE-WELLS SYNDROME, HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1, OPTIC ATROPHY 3 WITH CATARACT, OGUCHI DISEASE-1, PITT-HOPKINS-LIKE SYNDROME 2, CONTRACTURAL ARACHNODACTYLY, CONGENITAL, WEILL-MARCHESANI SYNDROME 1, RECESSIVE, XERODERMA PIGMENTOSUM, GROUP E, DDB-NEGATIVE SUBTYPE, ?MICROHYDRANENCEPHALY, HYPERCHOLESTEROLEMIA, DUE TO LIGAND-DEFECTIVE APO B, VAN MALDERGEM SYNDROME 1, IVIC SYNDROME, ACHROMATOPSIA 6, RETINAL CONE DYSTROPHY 3, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, SPINOCEREBELLAR ATAXIA 13, WAARDENBURG SYNDROME, TYPE 2A, WEAVER SYNDROME, WIEACKER-WOLFF SYNDROME, LOWE SYNDROME, ?BARDET-BIEDL SYNDROME 11, MYASTHENIC SYNDROME, CONGENITAL, 2A, SLOW-CHANNEL, HOLOPROSENCEPHALY-9, OTOPALATODIGITAL SYNDROME, TYPE I, GAPO SYNDROME, STICKLER SYNDROME, TYPE II, CORNELIA DE LANGE SYNDROME 3, SED CONGENITA, ATAXIA-OCULOMOTOR APRAXIA 4, NEPHRONOPHTHISIS 14, JOUBERT SYNDROME 19, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE II, LATHOSTEROLOSIS, EXUDATIVE VITREORETINOPATHY 4, BARDET-BIEDL SYNDROME 13, METACHROMATIC LEUKODYSTROPHY, EDICT SYNDROME, SHORT-RIB THORACIC DYSPLASIA 13 WITH OR WITHOUT POLYDACTYLY, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1, CRANIOECTODERMAL DYSPLASIA 2, [SKIN/HAIR/EYE PIGMENTATION 5, DARK/FAIR SKIN], [SKIN/HAIR/EYE PIGMENTATION 5, BLACK/NONBLACK HAIR], [SKIN/HAIR/EYE PIGMENTATION 5, DARK/LIGHT EYES], MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, ABETALIPOPROTEINEMIA, CONE-ROD DYSTROPHY 21, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3, KENNY-CAFFEY SYNDROME, TYPE 2, MECKEL SYNDROME 5, PREMATURE AGING SYNDROME, PENTTINEN TYPE, MENTAL RETARDATION, X-LINKED SYNDROMIC, CHRISTIANSON TYPE, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, LARYNGOONYCHOCUTANEOUS SYNDROME, GM1-GANGLIOSIDOSIS, TYPE III, MYOPIA 24, AUTOSOMAL DOMINANT, MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, CRANIOFACIAL DYSMORPHISM, AND CONGENITAL HEART DEFECTS, TIETZ ALBINISM-DEAFNESS SYNDROME, SPASTIC PARAPLEGIA 18, AUTOSOMAL RECESSIVE, ?COGNITIVE IMPAIRMENT WITH OR WITHOUT CEREBELLAR ATAXIA, CYSTINOSIS, ATYPICAL NEPHROPATHIC, CYSTINOSIS, NEPHROPATHIC, RETINAL CONE DYSTROPHY 4, ATAXIA-OCULOMOTOR APRAXIA 3, NIGHT BLINDNESS, CONGENITAL STATIONARY (COMPLETE), 1C, AUTOSOMAL RECESSIVE, SPINOCEREBELLAR ATAXIA 6, LADD SYNDROME, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROXIMAL MYOPATHY AND OPHTHALMOPLEGIA, MANNOSIDOSIS, ALPHA-, TYPES I AND II, ?CORNEAL INTRAEPITHELIAL DYSKERATOSIS AND ECTODERMAL DYSPLASIA, ?STICKLER SYNDROME, TYPE V, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IA, WOLFRAM SYNDROME, LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IX, ODONTOONYCHODERMAL DYSPLASIA, RETINITIS PIGMENTOSA, OPITZ GBBB SYNDROME, TYPE II, AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME , TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA, DYSKERATOSIS CONGENITA, X-LINKED, PORENCEPHALY 1, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2, LEUKOENCEPHALOPATHY WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION, ?UROCANASE DEFICIENCY, MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY, JOUBERT SYNDROME 2, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2J, CEREBELLAR ATAXIA AND HYPOGONADOTROPIC HYPOGONADISM, BOSCH-BOONSTRA-SCHAAF OPTIC ATROPHY SYNDROME, SPINOCEREBELLAR ATAXIA 27, WARSAW BREAKAGE SYNDROME, RETINITIS PIGMENTOSA 68, MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION, CRANIOSYNOSTOSIS 4, SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY, BOHRING-OPITZ SYNDROME, MEND SYNDROME, FAMILIAL COLD-INDUCED INFLAMMATORY SYNDROME 1, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IK, COLORBLINDNESS, PROTAN, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, SPASTIC ATAXIA 3, AUTOSOMAL RECESSIVE, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, CATARACT 16, MULTIPLE TYPES, ?LACRIMAL DUCT DEFECT, KBG SYNDROME, MARTSOLF SYNDROME, MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, MELNICK-FRASER SYNDROME, LEBER OPTIC ATROPHY, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, CRANIOSYNOSTOSIS 3, SPASTIC PARAPLEGIA 35, AUTOSOMAL RECESSIVE, PELIZAEUS-MERZBACHER DISEASE, ?TETRA-AMELIA SYNDROME, JOUBERT SYNDROME 15, MIGRAINE, FAMILIAL HEMIPLEGIC, 3, FRONTONASAL DYSPLASIA 1, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES, TYPE A, 8, POLYMICROGYRIA, BILATERAL FRONTOPARIETAL, WAARDENBURG SYNDROME, TYPE 4C, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL, JOUBERT SYNDROME 24, PELGER-HUET ANOMALY, KLEEFSTRA SYNDROME, AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, PEROXISOME BIOGENESIS DISORDER 1B (NALD/IRD), HERMANSKY-PUDLAK SYNDROME 5, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, WARBURG MICRO SYNDROME 4, RETINITIS PIGMENTOSA 13, ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME, CORNEAL DYSTROPHY, SCHNYDER TYPE, MENTAL RETARDATION, X-LINKED SYNDROMIC, RAYMOND TYPE, PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER), RETINITIS PIGMENTOSA 62, SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE, MACULAR DYSTROPHY WITH CENTRAL CONE INVOLVEMENT, ?SPINOCEREBELLAR ATAXIA 34, MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, ADAMS-OLIVER SYNDROME 2, MYOPIA 6, MYASTHENIC SYNDROME, CONGENITAL, 16, LEUKODYSTROPHY, ADULT-ONSET, AUTOSOMAL DOMINANT, MUCOLIPIDOSIS III ALPHA/BETA, HYPERLYSINEMIA, LIPOPROTEIN LIPASE DEFICIENCY, VAN MALDERGEM SYNDROME 2, RETINITIS PIGMENTOSA 20, XERODERMA PIGMENTOSUM, VARIANT TYPE, SMITH-MAGENIS SYNDROME, AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY, SED, MAROTEAUX TYPE, DIAPHYSEAL MEDULLARY STENOSIS WITH MALIGNANT FIBROUS HISTIOCYTOMA, TARP SYNDROME, ECTOPIA LENTIS ET PUPILLAE, CROUZON SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE ID, PIGMENTED PARAVENOUS CHORIORETINAL ATROPHY, ROIFMAN SYNDROME, NIGHT BLINDNESS, CONGENITAL STATIONARY (COMPLETE), 1E, AUTOSOMAL RECESSIVE, ALBINISM, OCULOCUTANEOUS, TYPE VII, CONE-ROD DYSTROPHY, X-LINKED, 1, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, AU-KLINE SYNDROME, BARAITSER-WINTER SYNDROME 1, ?LICHTENSTEIN-KNORR SYNDROME, ?NEURODEGENERATION WITH OPTIC ATROPHY, CHILDHOOD ONSET, ?RETINITIS PIGMENTOSA 67, ?CATARACT 43, MYOTONIC DYSTROPHY 1, SILVER-RUSSELL SYNDROME, MYOPIA 23, AUTOSOMAL RECESSIVE, MELNICK-NEEDLES SYNDROME, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7, HOLOPROSENCEPHALY-7, PEROXISOMAL FATTY ACYL-COA REDUCTASE 1 DISORDER, MACHADO-JOSEPH DISEASE, AMINOACYLASE 1 DEFICIENCY, MUCOPOLYSACCHARIDOSIS IS, GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME, AARSKOG-SCOTT SYNDROME, MENTAL RETARDATION, X-LINKED SYNDROMIC 16, HYPOPHOSPHATASIA, INFANTILE, ALBINISM, OCULOCUTANEOUS, TYPE III, NEU-LAXOVA SYNDROME 2, RETINITIS PIGMENTOSA 58, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7, CENANI-LENZ SYNDACTYLY SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE IV, PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY, LEUKOENCEPHALOPATHY WITH ATAXIA, C SYNDROME, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1, VELOCARDIOFACIAL SYNDROME, PSEUDOXANTHOMA ELASTICUM-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR DEFICIENCY, CHONDRODYSPLASIA PUNCTATA, X-LINKED RECESSIVE, WRINKLY SKIN SYNDROME, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14, STRIATONIGRAL DEGENERATION, INFANTILE, MICROPHTHALMIA, ISOLATED 2, NEUROFIBROMATOSIS, FAMILIAL SPINAL, EPILEPSY, PROGRESSIVE MYOCLONIC 2B (LAFORA), EPILEPSY, PROGRESSIVE MYOCLONIC 2A (LAFORA), MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 6, VAN DEN ENDE-GUPTA SYNDROME, PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY, MENTAL RETARDATION, X-LINKED 98, GAUCHER DISEASE, TYPE I, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS, MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE), LETHAL CONGENITAL CONTRACTURE SYNDROME 5, MIGRAINE, FAMILIAL HEMIPLEGIC, 1, MIGRAINE, FAMILIAL HEMIPLEGIC, 1, WITH PROGRESSIVE CEREBELLAR ATAXIA, MYASTHENIC SYNDROME, CONGENITAL, 5, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 2, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 5, COMMON VARIABLE IMMUNODEFICIENCY 1, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, MECKEL SYNDROME 1, HYPOGONADOTROPIC HYPOGONADISM 3 WITH OR WITHOUT ANOSMIA, ALAGILLE SYNDROME, RETINITIS PIGMENTOSA 57, RETINITIS PIGMENTOSA 4, AUTOSOMAL DOMINANT OR RECESSIVE, [HEX A PSEUDODEFICIENCY], GM2-GANGLIOSIDOSIS, SEVERAL FORMS, TAY-SACHS DISEASE, ?XFE PROGEROID SYNDROME, PEROXISOME BIOGENESIS DISORDER 8B, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBL E TYPE, ?MICROCEPHALY 10, PRIMARY, AUTOSOMAL RECESSIVE, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IC, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, OCULAR ALBINISM, TYPE I, NETTLESHIP-FALLS TYPE, CORNEAL DYSTROPHY, GELATINOUS DROP-LIKE, MICROPHTHALMIA, ISOLATED 8, EPSTEIN SYNDROME, MICROPHTHALMIA, SYNDROMIC 14, TRABOULSI SYNDROME, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 1, SPINOCEREBELLAR ATAXIA 17, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, CORNEAL FLECK DYSTROPHY, STRIATONIGRAL DEGENERATION, INFANTILE, MITOCHONDRIAL, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, OCULOPHARYNGEAL MUSCULAR DYSTROPHY, MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2, LARSEN SYNDROME, MICROPHTHALMIA, ISOLATED 7, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, [SKIN/HAIR/EYE PIGMENTATION 4, FAIR/DARK SKIN], ALBINISM, OCULOCUTANEOUS, TYPE VI, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2, MICROCORNEA, MYOPIC CHORIORETINAL ATROPHY, AND TELECANTHUS, ADULT SYNDROME, MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY), MITOCHONDRIAL DNA DEPLETION SYNDROME 8B (MNGIE TYPE), PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 4, PONTOCEREBELLAR HYPOPLASIA TYPE 2C, ?RETINITIS PIGMENTOSA 51, OSTEOGENESIS IMPERFECTA, TYPE V, KERATOCONUS 1, PAGET DISEASE OF BONE 5, JUVENILE-ONSET, SEA-BLUE HISTIOCYTE DISEASE, FACIAL PARESIS, HEREDITARY CONGENITAL, 3, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA, XERODERMA PIGMENTOSUM, GROUP D, HERMANSKY-PUDLAK SYNDROME 7, BARDET-BIEDL SYNDROME 10, ANDERSEN SYNDROME, ?EXUDATIVE VITREORETINOPATHY 6, USHER SYNDROME, TYPE 1B, RETINITIS PIGMENTOSA 10, SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 39, STARGARDT DISEASE 3, COCKAYNE SYNDROME, TYPE B, AMISH INFANTILE EPILEPSY SYNDROME, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY, MIGRAINE, FAMILIAL HEMIPLEGIC, 2, MIGRAINE, FAMILIAL BASILAR, FANCONI ANEMIA, COMPLEMENTATION GROUP G, MYOTUBULAR MYOPATHY, X-LINKED, ZIMMERMANN-LABAND SYNDROME 1, POIKILODERMA, HEREDITARY FIBROSING, WITH TENDON CONTRACTURES, MYOPATHY, AND PULMONARY FIBROSIS, FECHTNER SYNDROME, KAUFMAN OCULOCEREBROFACIAL SYNDROME, NOONAN SYNDROME 6, LEBER CONGENITAL AMAUROSIS 9, 3MC SYNDROME 2, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, RETINITIS PIGMENTOSA 73, MYASTHENIC SYNDROME, CONGENITAL, 3B, FAST-CHANNEL, THIAMINE METABOLISM DYSFUNCTION SYNDROME 2 (BIOTIN- OR THIAMINE-RESPONSIVE ENCEPHALOPATHY TYPE 2), LISSENCEPHALY, X-LINKED 2, HYDRANENCEPHALY WITH ABNORMAL GENITALIA, SUPRANUCLEAR PALSY, PROGRESSIVE ATYPICAL, CATARACT 3, MULTIPLE TYPES, DIGEORGE SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, CONE-ROD DYSTROPHY 12, LACTICACIDEMIA DUE TO PDX1 DEFICIENCY, NIEMANN-PICK DISEASE TYPE C1, LEPRECHAUNISM, WAARDENBURG SYNDROME/OCULAR ALBINISM, DIGENIC, WAARDENBURG SYNDROME/ALBINISM, DIGENIC, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 2, RETINITIS PIGMENTOSA 64, CONE-ROD DYSTROPHY 16, MENTAL RETARDATION, WITH OR WITHOUT NYSTAGMUS, FG SYNDROME 4, FOVEAL HYPOPLASIA 1, FRONTOMETAPHYSEAL DYSPLASIA, LOEYS-DIETZ SYNDROME 3, HYDROLETHALUS SYNDROME, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 18, MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 10, CRANIOOSTEOARTHROPATHY, HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE 1, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, CONE-ROD DYSTROPHY 7, STARGARDT DISEASE 1, FUNDUS FLAVIMACULATUS, RETINAL DYSTROPHY, EARLY-ONSET SEVERE, MACULAR DEGENERATION, JUVENILE, OSTEOGENESIS IMPERFECTA, TYPE I, CRANIOECTODERMAL DYSPLASIA 1, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IP, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, BURN-MCKEOWN SYNDROME, COHEN SYNDROME, OCULOECTODERMAL SYNDROME, MYOPATHY, MITOCHONDRIAL PROGRESSIVE, WITH CONGENITAL CATARACT, HEARING LOSS, AND DEVELOPMENTAL DELAY, RETINITIS PIGMENTOSA 56, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 18, BANNAYAN-RILEY-RUVALCABA SYNDROME, BARDET-BIEDL SYNDROME 12, BALLER-GEROLD SYNDROME, RETINITIS PIGMENTOSA 25, MACULAR DYSTROPHY, VITELLIFORM, 5, POPLITEAL PTERYGIUM SYNDROME, BARTSOCAS-PAPAS TYPE, ?SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY, PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY, LEIGH SYNDROME, FRENCH-CANADIAN TYPE, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, PROUD SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1, IMMUNODEFICIENCY, COMMON VARIABLE, 2, ENCEPHALOPAHTY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL PEROXISOMAL FISSION, STURGE-WEBER SYNDROME, SOMATIC, MOSAIC, HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 36, PHYTANIC ACID STORAGE DISEASE, BARDET-BIEDL SYNDROME 2, INFANTILE CEREBELLAR-RETINAL DEGENERATION, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, BARTTER SYNDROME, TYPE 3, SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT, STUVE-WIEDEMANN SYNDROME/SCHWARTZ-JAMPEL TYPE 2 SYNDROME, ?MECKEL SYNDROME 8, RENAL ADYSPLASIA, GLAUCOMA 1, OPEN ANGLE, 1O, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2A2, MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY, ECTOPIA LENTIS, ISOLATED, AUTOSOMAL RECESSIVE, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 4, SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES, PALLISTER-HALL SYNDROME, HYPOMAGNESEMIA 3, RENAL, DOPAMINE BETA-HYDROXYLASE DEFICIENCY, MOHR-TRANEBJAERG SYNDROME, EXUDATIVE VITREORETINOPATHY 2, X-LINKED, ALPHA-METHYLACYL-COA RACEMASE DEFICIENCY, RING DERMOID OF CORNEA, KEPPEN-LUBINSKY SYNDROME, LETHAL CONGENITAL CONTRACTURE SYNDROME 9, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, RITSCHER-SCHINZEL SYNDROME 2, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1, SPINOCEREBELLAR ATAXIA 5, ICHTHYOSIS, AUTOSOMAL RECESSIVE 4B (HARLEQUIN), FAZIO-LONDE DISEASE, 3-METHYLGLUTACONIC ACIDURIA, TYPE I, ?RIBOSE 5-PHOSPHATE ISOMERASE DEFICIENCY, SPINOCEREBELLAR ATAXIA 7, ?RETINAL DYSTROPHY WITH INNER RETINAL DYSFUNCTION AND GANGLION CELL ABNORMALITIES, CEREBRAL DYSGENESIS, NEUROPATHY, ICHTHYOSIS, AND PALMOPLANTAR KERATODERMA SYNDROME, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, BARAITSER-WINTER SYNDROME 2, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, CATARACT 18, AUTOSOMAL RECESSIVE, {NONARTERITIC ANTERIOR ISCHEMIC OPTIC NEUROPATHY, SUSCEPTIBILITY TO}, JOUBERT SYNDROME 17, LEBER CONGENITAL AMAUROSIS 14, RETINITIS PIGMENTOSA, JUVENILE, RETINAL DYSTROPHY, EARLY-ONSET SEVERE, EPISODIC ATAXIA, TYPE 2, SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7, CARDIOFACIOCUTANEOUS SYNDROME 2, TRIGONOCEPHALY 1, BARDET-BIEDL SYNDROME 16, SMITH-LEMLI-OPITZ SYNDROME, 5-FLUOROURACIL TOXICITY, DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY, JALILI SYNDROME, [SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 11 (MELANESIAN BLOND HAIR)], THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE, MENTAL RETARDATION, AUTOSOMAL DOMINANT 17, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7, DESMOSTEROLOSIS, PERRY SYNDROME, GLAUCOMA 3, PRIMARY CONGENITAL, D, MOWAT-WILSON SYNDROME, RUBINSTEIN-TAYBI SYNDROME, METHEMOGLOBINEMIA, TYPE II, METHEMOGLOBINEMIA, TYPE I, ENHANCED S-CONE SYNDROME, ?MACULAR DEGENERATION, AGE-RELATED, 6, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 36, BOSLEY-SALIH-ALORAINY SYNDROME, ATHABASKAN BRAINSTEM DYSGENESIS SYNDROME, SPINOCEREBELLAR ATAXIA 36, LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM, CATARACT 4, MULTIPLE TYPES, ALKAPTONURIA, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, ALTERNATING HEMIPLEGIA OF CHILDHOOD, THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE, CAVERNOUS MALFORMATIONS OF CNS AND RETINA, CEREBRAL CAVERNOUS MALFORMATIONS-1, HYPERKERATOTIC CUTANEOUS CAPILLARY-VENOUS MALFORMATIONS ASSOCIATED WITH CEREBRAL CAPILLARY MALFORMATIONS, CRANIOSYNOSTOSIS AND DENTAL ANOMALIES, ?MENTAL RETARDATION, AUTOSOMAL RECESSIVE 45, AICARDI-GOUTIERES SYNDROME 1, DOMINANT AND RECESSIVE, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IF, CATARACT 17, MULTIPLE TYPES, GALACTOSIALIDOSIS, MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, MITOCHONDRIAL RECESSIVE ATAXIA SYNDROME (INCLUDES SANDO AND SCAE), MACULAR CORNEAL DYSTROPHY, OSTEOGLOPHONIC DYSPLASIA, NIEMANN-PICK DISEASE, TYPE A, GM1-GANGLIOSIDOSIS, TYPE I, MENTAL RETARDATION, AUTOSOMAL DOMINANT 38, ?BARDET-BIEDL SYNDROME 18, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, CHANARIN-DORFMAN SYNDROME, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, RETINITIS PIGMENTOSA 61, COFFIN-SIRIS SYNDROME 1, L-2-HYDROXYGLUTARIC ACIDURIA, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, NEUROFIBROMATOSIS, TYPE 2, OSTEOGENESIS IMPERFECTA, TYPE XIII, GAUCHER DISEASE, TYPE III, LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, SPASTIC PARAPLEGIA 2, X-LINKED, 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, PERRAULT SYNDROME 5, JOUBERT SYNDROME 7, PCWH SYNDROME, BARDET-BIEDL SYNDROME 4, OPITZ GBBB SYNDROME, TYPE I, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, EHLERS-DANLOS SYNDROME, TYPE IV, SCHAAF-YANG SYNDROME, AGAMMAGLOBULINEMIA 6, GLAUCOMA 1, OPEN ANGLE, E, WAGNER SYNDROME 1, ?RETINITIS PIGMENTOSA 9, RITSCHER-SCHINZEL SYNDROME 1, NOONAN SYNDROME 3, USHER SYNDROME, TYPE 3A, WILSON-TURNER SYNDROME, HERMANSKY-PUDLAK SYNDROME 8, CATARACT 21, MULTIPLE TYPES, MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2, MUCOPOLYSACCHARIDOSIS TYPE IIIC (SANFILIPPO C), OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2, LEUKOENCEPHALOPATHY, CYSTIC, WITHOUT MEGALENCEPHALY, ?RETINITIS PIGMENTOSA 23, JOUBERT SYNDROME 18, SNOWFLAKE VITREORETINAL DEGENERATION, MYOPATHY, CENTRONUCLEAR, {CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF}, MENTAL RETARDATION, X-LINKED 90, NANOPHTHALMOS 4, GLAUCOMA 1, OPEN ANGLE, F, RETINITIS PIGMENTOSA 70, CONE DYSTROPHY 4, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, ?RETINITIS PIGMENTOSA 55, ?MENTAL RETARDATION, X-LINKED 101, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1G, CORNEAL DYSTROPHY, LATTICE TYPE I, ARTHROGRYPOSIS, DISTAL, TYPE 5, CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS 2, OTOPALATODIGITAL SYNDROME, TYPE II, ?AGAMMAGLOBULINEMIA 5, SPASTIC PARAPLEGIA 15, AUTOSOMAL RECESSIVE, KERATITIS, MICROPHTHALMIA, SYNDROMIC 6, JOUBERT SYNDROME 9, {MACULAR DEGENERATION, AGE-RELATED, 4}, NEPHRONOPHTHISIS 18, SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE, CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA AND MICROGNATHIA, COLE-CARPENTER SYNDROME 2, CEREBRAL AMYLOID ANGIOPATHY, PRNP-RELATED, GERSTMANN-STRAUSSLER DISEASE, {HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF}, HYPERCHOLESTEROLEMIA, FAMILIAL, LDL CHOLESTEROL LEVEL QTL2, {HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF}, {HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST}, MOLYBDENUM COFACTOR DEFICIENCY A, RETINITIS PIGMENTOSA 3, MACULAR DYSTROPHY, NORTH CAROLINA TYPE, BOUCHER-NEUHAUSER SYNDROME, CONE-ROD DYSTROPHY 11, ?RETINAL ARTERIES, TORTUOSITY OF, NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION, MACULAR DEGENERATION, AGE-RELATED, 3, CARDIOFACIOCUTANEOUS SYNDROME 4, KUFOR-RAKEB SYNDROME, ?CEROID LIPOFUSCINOSIS, NEURONAL, 12, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4, ATAXIA-TELANGIECTASIA-LIKE DISORDER, NATIVE AMERICAN MYOPATHY, MACULAR DYSTROPHY, RETINAL, 2, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 1, SPINOCREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12, HELSMOORTEL-VAN DER AA SYNDROME, BECKWITH-WIEDEMANN SYNDROME, SECKEL SYNDROME 1, PYRUVATE DEHYDROGENASE E2 DEFICIENCY, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 3, MENTAL RETARDATION, TRUNCAL OBESITY, RETINAL DYSTROPHY, AND MICROPENIS, ?MARDEN-WALKER SYNDROME, CRANIOFACIAL-DEAFNESS-HAND SYNDROME, PEROXISOME BIOGENESIS DISORDER 14B, SENIOR-LOKEN SYNDROME 4, ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS, RETINITIS PIGMENTOSA 39, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B2, KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), CORNEAL DYSTROPHY, EPITHELIAL BASEMENT MEMBRANE, COWDEN SYNDROME 6, CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 4, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B3, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, MENTAL RETARDATION, AUTOSOMAL DOMINANT 9, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, ?RETINAL DYSTROPHY AND OBESITY, SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, NOONAN SYNDROME 4, HEMOSIDEROSIS, SYSTEMIC, DUE TO ACERULOPLASMINEMIA, CEREBELLAR ATAXIA, [HYPOCERULOPLASMINEMIA, HEREDITARY], CATARACT 38, AUTOSOMAL RECESSIVE, ARTS SYNDROME, CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 6, GM2-GANGLIOSIDOSIS, AB VARIANT, WEILL-MARCHESANI-LIKE SYNDROME, FRIEDREICH ATAXIA WITH RETAINED REFLEXES, FRIEDREICH ATAXIA, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 8, MICROPHTHALMIA, SYNDROMIC 9, LEUKODYSTROPHY, HYPOMYELINATING, 6, EHLERS-DANLOS SYNDROME, TYPE VIIC, PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER), NIGHT BLINDNESS, CONGENITAL STATIONARY (COMPLETE), 1A, X-LINKED, WAARDENBURG SYNDROME, TYPE 1, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 1, BARDET-BIEDL SYNDROME 17, OGDEN SYNDROME, MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 2, RETINITIS PIGMENTOSA 45, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1, GLAUCOMA 1A, PRIMARY OPEN ANGLE, EXUDATIVE VITREORETINOPATHY 1, SHORT-RIB THORACIC DYSPLASIA 11 WITH OR WITHOUT POLYDACTYLY, PSEUDOXANTHOMA ELASTICUM, FORME FRUSTE, MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, MACULAR DYSTROPHY, VITELLIFORM, 4, COENZYME Q10 DEFICIENCY, PRIMARY, 3, EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 1, PONTOCEREBELLAR HYPOPLASIA, TYPE 10, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28, XERODERMA PIGMENTOSUM, GROUP G/COCKAYNE SYNDROME, XERODERMA PIGMENTOSUM, GROUP G, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 40, BARE LYMPHOCYTE SYNDROME, TYPE I, DUE TO TAP2 DEFICIENCY, BARE LYMPHOCYTE SYNDROME, TYPE I, MICROPHTHALMIA, ISOLATED 4, OSTEOGENESIS IMPERFECTA, TYPE XV, ?SPINOCEREBELLAR ATAXIA, X-LINKED 1, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, CATARACT 9, MULTIPLE TYPES, PARIETAL FORAMINA 2, DENTATORUBRO-PALLIDOLUYSIAN ATROPHY, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 3, CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 3, PONTOCEREBELLAR HYPOPLASIA TYPE 2A, GYRATE ATROPHY OF CHOROID AND RETINA WITH OR WITHOUT ORNITHINEMIA, SCHOPF-SCHULZ-PASSARGE SYNDROME, CHEDIAK-HIGASHI SYNDROME, BRACHYOLMIA TYPE 3, BRADYOPSIA, CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, HERMANSKY-PUDLAK SYNDROME 3, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, COCKAYNE SYNDROME, TYPE A, ATELOSTEOGENESIS, TYPE I, SENIOR-LOKEN SYNDROME 6, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 1, ECTODERMAL DYSPLASIA, ECTRODACTYLY, AND MACULAR DYSTROPHY, ALBINISM, OCULOCUTANEOUS, TYPE IB, MECKEL SYNDROME 2, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 7, WAARDENBURG SYNDROME, TYPE 2D, MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE), POLYMORPHOUS CORNEAL DYSTROPHY, MUCOLIPIDOSIS II ALPHA/BETA, CORNEAL DYSTROPHY, CONGENITAL STROMAL, SCALP-EAR-NIPPLE SYNDROME, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, ?CRANIOECTODERMAL DYSPLASIA 4, LYMPHEDEMA-DISTICHIASIS SYNDROME, LYMPHEDEMA-DISTICHIASIS SYNDROME WITH RENAL DISEASE AND DIABETES MELLITUS, LEUKOENCEPHALOPATHY WITH DYSTONIA AND MOTOR NEUROPATHY, SPASTIC PARAPLEGIA 64, AUTOSOMAL RECESSIVE, ATAXIA-TELANGIECTASIA, SVEINSSON CHOREORETINAL ATROPHY, MICROCEPHALY 3, PRIMARY, AUTOSOMAL RECESSIVE, MENTAL RETARDATION, AUTOSOMAL DOMINANT 40, PARKINSON DISEASE 20, EARLY-ONSET, CATARACT 22, AUTOSOMAL RECESSIVE, PANCREATIC AND CEREBELLAR AGENESIS, MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME, KENNY-CAFFEY SYNDROME, TYPE 1, LEBER CONGENITAL AMAUROSIS 13, JOUBERT SYNDROME 5, EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND DEAFNESS, STICKLER SYNDROME, TYPE III, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 1, POLYMICROGYRIA WITH OPTIC NERVE HYPOPLASIA, PETERS ANOMALY, SPASTIC PARAPLEGIA 75, AUTOSOMAL RECESSIVE, DYSTONIA 9, CYSTINOSIS, OCULAR NONNEPHROPATHIC, SPONDYLO-MEGAEPIPHYSEAL-METAPHYSEAL DYSPLASIA, 3-METHYLGLUTACONIC ACIDURIA, TYPE V, MARTIN-PROBST DEAFNESS-MENTAL RETARDATION SYNDROME, SADDAN, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, MUCOPOLYSACCHARIDOSIS IVA, RETINITIS PIGMENTOSA-50, RETINITIS PIGMENTOSA, CONCENTRIC, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B, KERATOSIS FOLLICULARIS SPINULOSA DECALVANS, X-LINKED, OPTIC ATROPHY PLUS SYNDROME, NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 2, HYPEREKPLEXIA 2, AUTOSOMAL RECESSIVE, MEVALONIC ACIDURIA, COLOBOMA, OCULAR, WITH OR WITHOUT HEARING IMPAIRMENT, CLEFT LIP/PALATE, AND/OR MENTAL RETARDATION, COLOBOMA, OCULAR, SPINOCEREBELLAR ATAXIA 1, SEVERE COMBINED IMMUNODEFICIENCY, B CELL-NEGATIVE, ALBINISM, OCULOCUTANEOUS, TYPE IV, POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY, WOLFRAM-LIKE SYNDROME, AUTOSOMAL DOMINANT, CEREBRAL ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY 1, HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY, DESBUQUOIS DYSPLASIA 2, ?CONGENITAL HEART DEFECTS, HAMARTOMAS OF TONGUE, AND POLYSYNDACTYLY, MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE, CORNELIA DE LANGE SYNDROME 2, BIOTINIDASE DEFICIENCY, ROBINOW SYNDROME, CHOPS SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, MACULAR DEGENERATION, X-LINKED ATROPHIC, HOLOPROSENCEPHALY-3, SIALIC ACID STORAGE DISORDER, INFANTILE, HELLP SYNDROME, MATERNAL, OF PREGNANCY, LCHAD DEFICIENCY, FATTY LIVER, ACUTE, OF PREGNANCY, GELEOPHYSIC DYSPLASIA 2, CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 8, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), ?PTOSIS, CONGENITAL, CORNEAL ENDOTHELIAL DYSTROPHY, AUTOSOMAL RECESSIVE, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15, HYPOBETALIPOPROTEINEMIA, AICARDI-GOUTIERES SYNDROME 6, RETINITIS PIGMENTOSA 7 AND DIGENIC, RETINITIS PIGMENTOSA 7, DIGENIC, LEBER CONGENITAL AMAUROSIS 18, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20, JOUBERT SYNDROME 20, RETINITIS PIGMENTOSA 43, RETINITIS PUNCTATA ALBESCENS, FUNDUS ALBIPUNCTATUS, CPT II DEFICIENCY, LETHAL NEONATAL, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 20, LOEYS-DIETZ SYNDROME 4, COLORBLINDNESS, DEUTAN, MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, ATAXIA, POSTERIOR COLUMN, WITH RETINITIS PIGMENTOSA, REVESZ SYNDROME, MEESMANN CORNEAL DYSTROPHY, SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE, EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME, TEMTAMY SYNDROME, JOUBERT SYNDROME 8, ?PHOSPHOENOLPYRUVATE CARBOXYKINASE-1, CYTOSOLIC, DEFICIENCY, RETINITIS PIGMENTOSA 26, NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB, MICROPHTHALMIA, ISOLATED 5, PARKINSON DISEASE 19, JUVENILE-ONSET, WERNER SYNDROME, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, STICKLER SYNDROME, TYPE IV, PORETTI-BOLTSHAUSER SYNDROME, DEJERINE-SOTTAS DISEASE, HOLOPROSENCEPHALY SEQUENCE HOLOPROSENCEPHALY 1, THYROID HORMONE RESISTANCE, AUTOSOMAL RECESSIVE, ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 11, MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4K, CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY, PONTOCEREBELLAR HYPOPLASIA, TYPE 6, JOHANSON-BLIZZARD SYNDROME, ?MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 9, MENTAL RETARDATION, X-LINKED SYNDROMIC 5, GIANT AXONAL NEUROPATHY-1, USHER SYNDROME, TYPE 1G, SANDHOFF DISEASE, INFANTILE, JUVENILE, AND ADULT FORMS, ALPORT SYNDROME, AUTOSOMAL DOMINANT, PEROXISOME BIOGENESIS DISORDER 2B, RETINITIS PIGMENTOSA 14, USHER SYNDROME TYPE 3B, CAPOS SYNDROME, RETINAL CONE DYSTROPHY 3B, ALPORT SYNDROME, AUTOSOMAL RECESSIVE, BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY, GLUTARIC ACIDEMIA IIA, GLUTARIC ACIDEMIA IIC, GLUTARIC ACIDEMIA IIB, CEROID LIPOFUSCINOSIS, NEURONAL, 5, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C, [FLECK RETINA, FAMILIAL BENIGN], LEUKODYSTROPHY, HYPOMYELINATING, 5, MICROPHTHALMIA, SYNDROMIC 12, THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME, CHYLOMICRON RETENTION DISEASE, SCLEROSTEOSIS 2, PEROXISOME BIOGENESIS DISORDER 9B, MYOPATHY, EARLY-ONSET, WITH FATAL CARDIOMYOPATHY, AXENFELD-RIEGER SYNDROME, TYPE 1, SPASTIC PARAPLEGIA 44, AUTOSOMAL RECESSIVE, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3B, MACULAR DYSTROPHY, PATTERNED, 1, SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE, CATARACT 36, RETINITIS PIGMENTOSA 27, CHIME SYNDROME, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA, ROBERTS SYNDROME, WOLFRAM SYNDROME 2, SPASTIC PARALYSIS, INFANTILE ONSET ASCENDING, MENTAL RETARDATION, AUTOSOMAL DOMINANT 29, THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT, AICARDI-GOUTIERES SYNDROME 3, CHARCOT-MARIE-TOOTH DISEASE TYPE 2E, COFFIN-SIRIS SYNDROME 4, ?LAURENCE-MOON SYNDROME, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, JOUBERT SYNDROME 14, VICI SYNDROME, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 8, NIEMANN-PICK DISEASE, TYPE B, PSYCHOMOTOR RETARDATION, EPILEPSY, AND CRANIOFACIAL DYSMORPHISM, ECTODERMAL DYSPLASIA 2, CLOUSTON TYPE, CORNELIA DE LANGE SYNDROME 1, FISH-EYE DISEASE, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, JOUBERT SYNDROME-3, CONE-ROD DYSTROPHY 13, SPASTIC ATAXIA 2, AUTOSOMAL RECESSIVE, SCHINDLER DISEASE, TYPE I, SCHINDLER DISEASE, TYPE III, LOEYS-DIETZ SYNDROME 1, CANAVAN DISEASE, ?SPINOCEREBELLAR ATAXIA 26, NEPHRONOPHTHISIS 15, SPINOCEREBELLAR ATAXIA 23, SINGLETON-MERTEN SYNDROME 2, ?CATARACT 30, PULVERULENT, RETINAL DYSTROPHY, IRIS COLOBOMA, AND COMEDOGENIC ACNE SYNDROME, EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IQ, SMED STRUDWICK TYPE, HYPEROXALURIA, PRIMARY, TYPE 1, WATSON SYNDROME, 17-BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY, FOVEAL HYPOPLASIA 2, WITH OR WITHOUT OPTIC NERVE MISROUTING AND/OR ANTERIOR SEGMENT DYSGENESIS, MICROPHTHALMIA, ISOLATED 6, CEREBROOCULOFACIOSKELETAL SYNDROME 4, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 5, RETINITIS PIGMENTOSA 54, RETINITIS PIGMENTOSA, JUVENILE, AUTOSOMAL RECESSIVE, LEBER CONGENITAL AMAUROSIS 3, ?MYASTHENIC SYNDROME, CONGENITAL, 3C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, ?RETINITIS PIGMENTOSA 66, CONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION, ARTERIAL TORTUOSITY SYNDROME, SORSBY FUNDUS DYSTROPHY, ?JOUBERT SYNDROME 22, ?SPASTIC PARAPLEGIA 57, AUTOSOMAL RECESSIVE, MASA SYNDROME, CRASH SYNDROME, {MULTIPLE SYSTEM ATROPHY, SUSCEPTIBILITY TO}, SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME, ACHROMATOPSIA 7, RENAL TUBULAR ACIDOSIS, PROXIMAL, WITH OCULAR ABNORMALITIES, EPISODIC ATAXIA, TYPE 5, FRASER SYNDROME, BROWN-VIALETTO-VAN LAERE SYNDROME 1, MANNOSIDOSIS, BETA, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT SYNDROME, SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY, MICROPHTHALMIA WITH COLOBOMA 5, NEUROPATHY, ATAXIA, AND RETINITIS PIGMENTOSA, CORNEAL DYSTROPHY, REIS-BUCKLERS TYPE, RETINITIS PIGMENTOSA 30, MUCOLIPIDOSIS III GAMMA, AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIJ, HYPERCALCEMIA, INFANTILE, CARDIOFACIOCUTANEOUS SYNDROME, SPONDYLOCHEIRODYSPLASIA, EHLERS-DANLOS SYNDROME-LIKE, MYOPATHY, MYOFIBRILLAR, 2, MYOPATHY, TUBULAR AGGREGATE, 1, HERMANSKY-PUDLAK SYNDROME 1, USHER SYNDROME, TYPE IJ, CEREBELLAR HYPOPLASIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDAL LOCOMOTION 1, NIJMEGEN BREAKAGE SYNDROME-LIKE DISORDER, AGAMMAGLOBULINEMIA, X-LINKED 1, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, MACULAR DEGENERATION, AGE-RELATED, 11, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIB, PSEUDOHYPOPARATHYROIDISM IC, {MACULAR DEGENERATION, AGE-RELATED, 2}, CORNEAL OPACIFICATION AND OTHER OCULAR ANOMALIES, ADRENOLEUKODYSTROPHY, ADRENOMYELONEUROPATHY, ADULT, CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 2, LEUKODYSTROPHY, HYPOMYELINATING, 4, CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5, IRIS HYPOPLASIA AND GLAUCOMA, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1, SULFITE OXIDASE DEFICIENCY, GLUCOSE-6-PHOSPHATE TRANSPORT DEFECT, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, CATARACT 33, HYPERFERRITINEMIA-CATARACT SYNDROME, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2, MICROCEPHALY, PROGRESSIVE, SEIZURES, AND CEREBRAL AND CEREBELLAR ATROPHY, SPASTIC PARAPLEGIA 26, AUTOSOMAL RECESSIVE, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3, WITH RENAL TUBULAR ACIDOSIS, OGUCHI DISEASE-2, GLAUCOMA 3A, PRIMARY OPEN ANGLE, CONGENITAL, JUVENILE, OR ADULT ONSET, MICROCORNEA, ROD-CONE DYSTROPHY, CATARACT, AND POSTERIOR STAPHYLOMA, VITREORETINOCHOROIDOPATHY, DYSTONIA, DOPA-RESPONSIVE, DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY, ARTHROGRYPOSIS, DISTAL, TYPE 2A, BESTROPHINOPATHY, AUTOSOMAL RECESSIVE, KOOLEN-DE VRIES SYNDROME, DEAFNESS, DYSTONIA, AND CEREBRAL HYPOMYELINATION, TUBEROUS SCLEROSIS 2, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, WAARDENBURG SYNDROME, TYPE 3, USHER SYNDROME, TYPE 1F, AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY, TENORIO SYNDROME, PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE, ?OTOFACIOCERVICAL SYNDROME 2, SHPRINTZEN-GOLDBERG SYNDROME, HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINEMIA SYNDROME, SENIOR-LOKEN SYNDROME-1, NIEMANN-PICK DISEASE, TYPE C2, SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS, OLIVER-MCFARLANE SYNDROME, TROYER SYNDROME, RETINITIS PIGMENTOSA 36, KNIEST DYSPLASIA, OPTIC NERVE HYPOPLASIA, MENTAL RETARDATION, X-LINKED 21/34, XERODERMA PIGMENTOSUM, TYPE 1, HERMANSKY-PUDLAK SYNDROME 9, RETINAL DEGENERATION, LATE-ONSET, AUTOSOMAL DOMINANT, OPTIC ATROPHY 7, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBLG COMPLEMENTATION TYPE, ?MICROPHTHALMIA, SYNDROMIC 11, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, MYOPIA 22, AUTOSOMAL DOMINANT, CHROMOSOME 5Q14.3 DELETION SYNDROME, MENTAL RETARDATION, STEREOTYPIC MOVEMENTS, EPILEPSY, AND/OR CEREBRAL MALFORMATIONS, CHOROID PLEXUS PAPILLOMA, CONE-ROD DYSTROPHY 10, KABUKI SYNDROME 1, RETINITIS PIGMENTOSA 44, {DRAVET SYNDROME, MODIFIER OF}, DRAVET SYNDROME, CONGENITAL HEART DEFECTS, NONSYNDROMIC, 1, X-LINKED, HETEROTAXY, VISCERAL, 1, X-LINKED, WOLCOTT-RALLISON SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 30, HYPOPHOSPHATASIA, CHILDHOOD, RETINITIS PIGMENTOSA 42, MICROPHTHALMIA WITH COLOBOMA 6, MICROPHTHALMIA WITH COLOBOMA 6, DIGENIC, CRANIOSYNOSTOSIS 6, MECKEL SYNDROME 4, OLMSTED SYNDROME, BARDET-BIEDL SYNDROME 9, EPILEPTIC ENCEPHALOPATHY LENNOX-GASTAUT TYPE, MUCOPOLYSACCHARIDOSIS IH/S, MYASTHENIA, CONGENITAL, 12, WITH TUBULAR AGGREGATES, MOLYBDENUM COFACTOR DEFICIENCY B, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 6, ?SPASTIC PARAPLEGIA 74, AUTOSOMAL RECESSIVE, RETINITIS PIGMENTOSA 48, RETINITIS PIGMENTOSA 46, HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IE, SIALURIA, TANGIER DISEASE, CARDIOFACIOCUTANEOUS SYNDROME 3

Associated genes: LSS, TCF12, TSC2, EDNRA, VARS2, GP1BA, FTL, PRIMPOL, POLD1, ADAMTS18, PRPF3, SEMA4A, UNC45B, TBCE, EGR2, PTRH2, SLC6A8, MERTK, FREM1, AFF4, NTF4, DNAI2, CYP7B1, SLC16A12, WWOX, CLRN1, LRIT3, DDB2, GCM2, APOA1, AP1S2, IDS, GSN, DAG1, MARS2, SCP2, NR1I3, C1QTNF5, SPEG, ITPR1, GALNT3, GUSB, GSS, CP, ALDOA, DDR2, PRPS1, BBS5, SUFU, RAB3GAP2, DVL3, PDYN, CEP290, NDUFAF2, FOXC1, CTDP1, PCK1, ALG3, SLC19A2, TINF2, RNASET2, IMPG2, CNGB1, KIF11, EFNB1, FAR1, XRCC4, ADAT3, ADK, IFT122, TAT, TNFSF11, HNRNPK, NPHP1, SRCAP, RAX, IFT27, EPG5, FOXRED1, SPRTN, SCARF2, COL4A3, NLRP5, FH, B4GALT7, SPATA7, FOXE3, FANCL, ATXN3, POLR3B, TSC1, CNGA1, SOS2, NDUFS2, CCBE1, PEX14, GNPTAB, KMT2A, NAA10, SBF2, CRYBB3, CHMP4B, DGUOK, SNRPN, MTAP, ITGA8, IDUA, RGS9, BBS1, DNAH8, ROBO3, TGFBI, PCNT, RRM2B, USH1C, ADAR, PET100, ABHD12, TGFBR2, COL9A1, SLC33A1, SHOC2, DOK7, TDRD7, MTMR14, CA4, FGFR1, HGD, FZD4, POC1A, TGIF1, PTH, GDNF, STAC3, ETFDH, ELOVL5, FAM161A, TNFRSF11A, STAT3, CRYBA2, KAT6A, UBE3B, FBXO31, BBS12, COL18A1, ALPL, NT5C2, NDUFB3, UBR1, SC5D, NIN, ANKH, SMC1A, KANSL1, ATXN1, TSEN54, OPTN, GLI2, FREM2, ATP13A2, ARHGAP11A, POLH, MT-ND3, DYRK1A, AIMP1, ZC4H2, SDHA, FAM126A, HYLS1, PLG, TP53, MT-TQ, PEX10, PCSK9, CHRNB1, ISPD, PMPCA, DDX59, SYNE1, CEP120, STT3B, ADSL, DNAAF3, IKBKG, HEXB, NRXN1, NDUFA1, ERCC8, VPS13B, STK11, LCAT, NDRG1, PDP1, NOP56, PIK3CA, BMPER, HMCN1, NF1, RARB, ACTA1, GJA3, RAG1, GRIP1, RIMS1, SMARCA4, FAM177A1, NDUFAF6, ADAM9, ARMC4, CLUAP1, HMX1, CCND1, SYT14, SH3BP2, NSD1, CHRDL1, KDM5C, EBP, GLIS3, DPYD, ALG6, MFRP, COX14, PANK2, TBX1, CDON, TYR, KIAA0586, PAX2, DLG3, OTX2, SLC9A6, RPE65, FOXC2, GDF3, FBN1, COL27A1, CA8, STXBP1, FGFR3, POLG2, COX10, NRAS, PDSS2, PRICKLE2, MMP14, DPM1, B3GAT3, ALX1, PRPF4, AP3B1, ERCC4, UPK3A, TCF4, SOST, PGAP3, RBCK1, WDR19, FASTKD2, GATA6, DLAT, VAMP1, EDNRB, POLG, MTR, ATXN7, NEU1, CD96, ST14, ACOX1, SLC52A3, SRD5A3, NDUFA11, GDF6, ERCC1, COL9A2, PHYH, GAN, PGK1, PAX1, AARS, SLC24A1, ALG2, SCN8A, ROM1, SNAI2, COL13A1, RSPH1, NDUFA12, OPA3, ATP6V0A2, IL1RAPL1, CHD7, P3H2, WRN, DNAL1, DHDDS, MEGF8, PRX, FANCG, GNAT2, FMR1, TGFBR1, AGBL1, IMPDH1, MAX, CLPB, POMT2, NOTCH3, BBS9, PCNA, CACNA2D4, JAM3, CTSD, CEP83, TNFRSF13B, TTR, TTC21B, SFXN4, SERPINI1, LRRC8A, IGFBP7, CLN6, CIB2, TAF2, FSCN2, SLC25A4, PSAT1, ARL13B, SLC45A2, YAP1, CRYGC, COL25A1, SAG, TRAPPC11, SPG11, PALB2, NEB, INSR, KIAA0196, SCN9A, SERPINH1, GLA, ADGRV1, TACO1, PLA2G6, EXOSC3, WDR45, NHP2, NKX2-6, RP9, HBB, PROS1, TCTN3, LMNA, ACADS, MID1, NALCN, ADGRG1, RBBP8, GGCX, NSDHL, KDM6A, LRAT, TRIM32, G6PC, WNK1, KRT3, SPECC1L, RAF1, EVC, VLDLR, WDR36, SOX2, CRYBB2, KIF21A, PITPNM3, THRA, ZFHX4, CST3, OPHN1, IFNG, SMARCE1, AAAS, MKKS, HYDIN, TUBGCP4, MAG, C12orf57, SMC3, NDUFS7, MT-CO1, SLC35A2, BANF1, MGME1, CTNNB1, SMAD4, ZNF644, IGHM, HDAC6, LRP5, LAMA3, CLCN2, PPP2R1A, TUBB, TCTN1, RSPH4A, RIPK4, INPPL1, RAD50, ALX3, BRIP1, ARID1B, BBS7, GLI3, RECQL4, MT-TH, ARL6, LAMP2, CHMP1A, EYA1, ZFPM2, MASP1, PIGA, PIGL, LAMA2, AP4M1, GATA4, RARS, MT-CO2, COL5A2, ELP4, FKTN, MMADHC, SALL4, RAB40AL, RNF113A, CHAT, HLA-DQB1, SDHB, TAP2, APOB, MMP1, CPT2, MFN2, KIF1C, HSF4, MOCS2, CHCHD10, B3GLCT, ICR1, PTDSS1, ABCD1, TMEM231, ADGRG6, HMGB3, KCNA1, NDUFB11, TFAP2B, SZT2, MIP, DNAI1, SPAST, COL8A2, NR2E3, ZNF408, PXDN, SPR, DDC, PEX26, HOXB1, MAP2K2, TFAP2A, GORAB, ZIC2, SLC19A3, IL11RA, CRIPT, MEF2C, C9orf72, MYO18B, NLRP3, CSPP1, PIKFYVE, CACNA1A, CCDC28B, L2HGDH, WDPCP, FA2H, FANCA, RB1, ATF6, GCK, STIM1, MYOC, MT-ATP6, TTC19, CBS, GHR, GMPPB, TAZ, AASS, COL4A4, SLC52A2, HSD11B2, PLP1, FIBP, ETFA, COG4, TSPAN12, C8orf37, MIR204, PRKCG, FARS2, KIT, SCYL1, PEX1, C21orf59, MTFMT, TYMP, DARS, KMT2D, DDX58, ZFYVE26, ZBTB24, ERMARD, NDUFB9, AIPL1, ATP1A3, POLR1C, AGA, PEX16, STRA6, TIMP3, SMAD3, ALDH18A1, HSPG2, ESR1, HPGD, SLC38A8, ISCA2, PDE4D, LARGE1, ATRX, CYP27A1, CTSA, RSPH3, ATP6V1B2, SEPT9, NPHP4, RPGRIP1L, IRX5, MANBA, ALG1, BCOR, CRYBA1, KCND3, NPC1, ST3GAL5, SPAG1, MTO1, PRPH2, FANCD2, TCOF1, UROC1, ICOS, TWIST2, NDUFAF4, MID2, RBP3, GATA2, ERCC6, NPC2, MT-TK, RAI1, GALT, GFPT1, DCX, PSMB8, APTX, GNAQ, POGZ, CNNM4, IMPAD1, ALDH5A1, CREBBP, CLDN16, RPS6KA3, TFG, INS, MOCS1, FAM20C, SETBP1, PITX3, LMX1B, TSFM, CNTN1, VHL, COL4A1, KIF1B, BIN1, SMS, PHGDH, DCTN1, HCCS, TERT, H19, PTEN, PIK3R5, EHMT1, PRDM12, HSD17B4, CCNO, CHEK2, FAT4, CEP41, RTN4IP1, GFER, CHN1, TMEM127, RPL35A, SOS1, C10orf11, GBA, CRB1, TSEN34, STRADA, GUCA1A, HRAS, OCLN, HPS3, KLHL7, KIF1BP, MFSD8, IER3IP1, FUCA1, YARS2, COL5A1, CDKN2A, VIM, COX20, EIF2B3, SIX3, AFG3L2, FGD1, AUH, POU1F1, ABHD5, PHOX2A, FBXO7, ZNF592, NKX2-5, GAS1, LMNB1, CACNA1D, CRX, PTCH2, CANT1, SPG20, LONP1, PYCR1, PROM1, ZIC3, NKX3-2, LMOD3, LIM2, PROKR2, SLC39A5, QARS, DCPS, MYH3, WDR81, ARX, MECP2, PDCD1, DNAJC6, ANKLE2, SMARCAL1, MAK, BBS10, IDH3B, EXT2, LDLR, NEFL, ZBTB18, CYP4V2, CERKL, RARS2, TBC1D7, MT-TS1, SLC37A4, RAG2, TBX15, SNAP29, PAH, HESX1, NDUFAF1, FLNA, POLR3A, TUBGCP6, PMP22, PDHA1, ETFB, CD19, GALC, RPGR, PLCG2, MPV17, WNT1, MT-ND5, DPAGT1, MTRR, ACO2, DNMT3B, COL4A3BP, MYH11, ATR, SHH, HPS1, PORCN, CA2, RDH5, PLOD3, VAX1, CC2D2A, LBR, SUOX, KRIT1, CLN3, GALK1, ESCO2, DPM2, NYX, AGK, TTC8, POR, CYB5R3, P3H1, EXOSC8, MAFB, SLC6A19, NF2, SCN4A, ALMS1, SLC39A8, SKIV2L, LAMA1, MT-ND6, CRYGD, ALG11, SLC4A4, CBL, KCNJ1, GJA8, IMPG1, HSPD1, MT-CYB, ABCD4, TNNT2, FBXL4, ANKRD11, PDE6B, PDE6C, CHST6, OAT, SCO2, ATOH7, CHST14, RAX2, CRTAP, NMNAT1, COLQ, NUP62, FYCO1, PNKP, DBH, PPP1R17, FLVCR1, MMACHC, TAPBP, PPIB, UBA1, GCNT2, SH3PXD2B, COX15, LRPAP1, PEX13, PDE6G, NRL, PEX5, ECHS1, XPC, ZMYND11, AHDC1, SDHAF1, EIF2B1, SLC2A1, FGF23, SLC9A1, ZNF423, OSMR, PIK3R2, LPL, PDHX, DNAAF1, SPATA5, ENG, PDSS1, HLA-B, WNT10A, DST, FKRP, ITGA3, DRAM2, RGS9BP, CTCF, POMK, DHCR24, COX7B, RDH11, BEAN1, HPS4, FGF10, EXOC8, NOP10, SKI, B3GALNT2, GJB6, TREX1, LRP4, TH, SEMA3E, CAPN5, SNX10, ZIC1, APOPT1, ACY1, SLC25A1, MT-CO3, DHS6S1, CACNB4, MITF, CD79B, POMGNT2, CLP1, ATN1, TUB, SOX9, FOXL2, GUCY2D, CABP4, C12orf65, TTC37, SACS, AMACR, KIF2A, GTPBP3, KMT2C, EARS2, ADAMTS10, RBM10, KLC2, EDN3, TCIRG1, AP4E1, RAB18, FGF5, BRAF, SNAP25, HPS6, AUTS2, GNPTG, UBE2A, RSPRY1, TMEM70, BFSP2, SLC7A14, GRM1, SNIP1, ARL2BP, EEF2, NFKB2, ALDH3A2, KCNJ5, B4GALNT1, SLC4A11, DVL1, PEX3, CNGA3, SLC16A2, TCTN2, TNFRSF11B, ATP2B2, KCNQ1OT1, SEC24D, OPN1SW, MAF, TUBB4A, USH2A, CHRNE, SLC12A6, ACTG1, ASXL1, ABCB6, HOXA1, CYP1B1, PCLO, PEX7, CHAMP1, NIPBL, ZSWIM6, CRYAB, COLEC11, APC, ASPA, SMOC1, RS1, CCDC151, RDH12, ATIC, ASAH1, CRYGS, PRPF31, IFIH1, GATAD2B, RNASEH2C, PEX6, CAV1, PMM2, WDR35, ZEB2, SLC24A5, PRPF8, PDE6D, COL1A1, LTBP4, JAG1, TRPM1, GRID2, COL2A1, BAP1, NUBPL, LZTR1, KCNH1, TACSTD2, UBIAD1, CHM, ATXN10, MOGS, NTRK1, ABCA1, PLOD1, CACNA1F, DSE, ERCC5, NDUFA9, RBP4, DKC1, IFT140, ALX4, ABCC8, DDHD2, WHRN, SDHD, GPR143, HLA-DRB1, SLITRK6, BBS4, BCS1L, RAPSN, LTBP2, ROR2, PLK4, PRKAR1A, SAMD9, SETX, COQ2, SALL2, KCTD1, PRSS23, MT-ND1, DNA2, RAB28, LAMC3, ALG14, ACADSB, VSX1, MTTP, AMER1, CHRND, NDUFS3, FGF14, EYS, SYNJ1, XYLT1, PNPLA6, GRK1, GRM6, LCA5, RP1, HERC2, POC1B, ABCA4, THOC6, DRC1, UCHL1, CISD2, NDUFAF5, HTRA1, TUFM, SLC36A2, TTLL5, ATP2B3, DNAJC19, CNBP, CHRNG, PABPN1, PIGT, DNM2, TAP1, RNASEH1, OCA2, EIF2B2, TRAF3IP1, SOX10, SLC25A22, MAN2B1, IBA57, NDUFS8, BMP4, ERCC2, PDGFRB, XYLT2, EIF2B4, OCRL, PTCH1, APOA2, KRAS, PAX6, TRAF3IP2, IFT172, PRRX1, DOCK6, CLN8, CCDC114, ITM2B, AGRN, MT-TD, FAM111B, HTT, DCN, CCDC22, ITIH4, EPHX2, AP1S1, NDUFA2, IARS2, ZBTB16, IGF1, NLRP1, CYP24A1, ZMYND10, ARHGAP31, TUBA8, CRYBB1, NARS2, MCOLN1, PURA, ZNF513, TGFB3, CASR, CHRNA1, UROS, RPGRIP1, PCDH15, PRKDC, NDUFS1, DTNBP1, CFI, CDHR1, MED12, NDUFS6, ASPH, MAGEL2, ATP7B, B3GALT6, SHANK3, DDOST, HGSNAT, GJB1, SUMF1, ITCH, PSAP, PLA2G5, DHCR7, PRNP, ENTPD1, ATM, CASK, IKBKAP, FXN, NDUFV2, DIAPH1, FGFR2, UBE3A, KCNV2, MYH8, L1CAM, RET, SPTBN2, KCNJ2, VSX2, RNF125, CFHR1, CKAP2L, CRYGB, PLEKHG4, AMPD2, TPM3, APOE, LAMB1, TMEM216, WDR73, GNAS, WNT5A, COL3A1, C2orf71, TP63, DOCK7, RLBP1, ETHE1, VMA21, MMP19, PCYT1A, SLC17A5, PIEZO2, NOG, KIF7, EPHA2, TBC1D24, RGR, GLRB, POMGNT1, ARSE, SBF1, MKS1, ATXN8, TRMT5, ANO10, THRB, KL, ERBB3, NDUFAF3, CNGB3, TULP1, P4HB, IGBP1, RNF216, BUB1B, CAMTA1, NOD2, TAF6, BTD, MRE11A, TUBB2B, BFSP1, SUCLA2, TOPORS, PPP2R2B, TRAPPC9, NDUFA10, GATA1, MAN1B1, TUBG1, FANCE, AGL, MT-TE, EFEMP1, TMCO1, RAB3GAP1, GPIHBP1, SH3TC2, PITX2, PQBP1, GPR179, MYO7A, AKT1, TPI1, BEST1, LRPPRC, EZH2, TWIST1, LOXL1, DNAH1, ARSA, GNE, DPP6, KIAA2022, CTC1, MTM1, GJC2, POLA1, CHST3, EIF2B5, ASNS, TMEM5, SEPN1, PIGN, SEC23A, PTPN11, PEX12, GMPPA, SPG7, DMPK, TMEM98, NDUFS4, HPS5, DNAAF2, SNRNP200, MAPRE2, ZMPSTE24, CLCNKB, KERA, ADAM17, CTNS, BRAT1, TMEM138, SLC6A20, KRT12, GTF2H5, GM2A, PRDM5, HADHB, SURF1, PDE6A, NHLRC1, ACTB, GRN, COL1A2, GBA2, COL11A2, MYH7, ZBTB20, LRBA, PRSS56, USB1, TRNT1, RUBCN, BBS2, ARHGDIA, NHS, CLDN19, KIF1A, FIG4, TEAD1, IGSF3, MMP2, ABCC6, NME1, NOTCH1, ERCC3, ATXN8OS, FRMD7, ZEB1, SIX6, AVP, VCAN, COL17A1, GK, SPINT2, SPRED1, CDH3, RMRP, CDH23, HARS, GDF1, ACTA2, STS, TENM3, ARNT2, MC1R, BMP1, MT-TL1, DARS2, SLC29A3, PTH1R, PEX11B, NDN, TXNL4A, FRAS1, CDK5RAP2, LRP2, MYH2, CDKL5, ANTXR1, FAM134B, AIRE, NBAS, ZNF469, TTI2, PPP2R5D, ALDH6A1, PAX3, RFT1, TGFB1, APOC2, PRPF6, EIF2AK3, CCDC103, SCO1, DNMT1, EPM2A, OFD1, ADAMTSL4, BLOC1S3, IFITM5, TMEM67, MAPT, ADAMTS17, TMEM126A, C19orf12, C10orf2, DCHS1, SALL1, OPN1LW, KCNJ6, HEXA, TRAPPC2, GUCA1B, DNAH5, STAP1, TSPYL1, NADK2, MTPAP, SNX14, ARSB, LAMB2, FANCM, SIL1, MBTPS2, HADHA, COX8A, LZTFL1, TMEM240, NFIX, FKBP10, PLEC, SLC2A10, CRYAA, NEK2, PTF1A, TNF, ACVRL1, ATP1A2, GNAT1, GFM1, PRSS12, PROC, ORAI1, PDZD7, SLC25A46, DNM1L, EEF1A2, PRCD, RUNX2, FKBP14, ADAMTS2, GSC, STAMBP, TYRP1, TMEM237, COL7A1, GLB1, SMPD1, RD3, HSD17B10, SDCCAG8, ZNF335, TBC1D20, MAB21L2, CEP164, BRCA1, TUBB3, ATP5A1, ALDH1A3, SCN1A, HNRNPDL, RHO, KIZ, PIGO, TTN, RPS19, TRPV3, TRPV4, CFH, KCNJ13, AHI1, SERPINC1, HDAC8, STUB1, PDE6H, MT-ND4, WNT3, MED25, ERF, TBP, MYH9, COL11A1, POMT1, PPT1, COL4A5, PIGV, RIT1, MT-ND4L, MT-TS2, ADNP, MPLKIP, TRIM37, FLNB, ALG13, MAP2K1, TPP1, MPC1, BBIP1, TTBK2, ORC1, BCAP31, FAM111A, MCIDAS, HIBCH, GALNS, OPN1MW, BTK, SOBP, OVOL2, RP1L1, COX6B1, CLASP1, EFEMP2, BLOC1S6, NDUFV1, CECR1, WFS1, MT-ND2, GRIA3, TIMM8A, FBLN5, RBM8A, ABCA12, LYST, GCH1, RYR1, EVC2, COG8, AGXT, DDX11, AARS2, NSUN2, ELOVL4, FANCC, MPZ, SLC25A15, RPIA, MYO6, NDP, PEPD, CLN5, IQCB1, MIR184, MBD5, RNU4ATAC, GPC3, KCNJ11, GJA1, CFHR3, INPP5E, ALS2, MVK, TGFB2, ATCAY, SIX1, FBN2, NDE1, C5orf42, CHSY1, RP2, CDKN1C, USH1G, ASB10, MUSK, WDR34, ERLIN2, NR2F1, SAR1B, XPA, CRYBA4, RAB23, GJB2, PEX2, ATXN2, PHF6, SLC39A13, KCTD7, CYGB, CEP57, PACS1, LIFR, GNPAT, OPA1, NAGA, MPDU1, KCNC3, ZDHHC9, B4GAT1, PIK3R1