Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the optic nerve (HP:0000587)help
Parent Node:
expand
Abnormal optic disc morphology (HP:0012795)help
..Starting node
..expand
Optic atrophy (HP:0000648)help
Term ID: 648
Name: Optic atrophy
Synonym: Optic nerve atrophy; Optic-nerve degeneration
Definition: Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy.
Comments:
Reference: HP:0000648
Genes and Diseases:
 
       Child Nodes:
........expandOptic atrophy from cranial nerve compression (HP:0007958) help

 Sister Nodes: 
..expandIncreased cup-to-disc ratio (HP:0012796) help
..expandOptic disc drusen (HP:0012426) help
..expandOptic disc pallor (HP:0000543) help
..expandPapilledema (HP:0001085) help
..expandPseudopapilledema (HP:0000538) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000648HP:0000648Optic atrophy0AAAS CL E G H808613666OMIM:231550Achalasia-Addisonianism-Alacrima syndrome.57
HP:0000648HP:0000648Optic atrophy0AAAS CL E G H808613666ORPHA:869Triple A syndromeHP:0040283 - Occasional57
HP:0000648HP:0000648Optic atrophy0AARS1 CL E G H1620ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040284 - Very rare
HP:0000648HP:0000648Optic atrophy0ABCA4 CL E G H2434ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent826
HP:0000648HP:0000648Optic atrophy0ABHD12 CL E G H2609015868OMIM:612674Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract.50
HP:0000648HP:0000648Optic atrophy0ACADS CL E G H3590ORPHA:26792Short chain acyl-CoA dehydrogenase deficiencyHP:0040284 - Very rare90
HP:0000648HP:0000648Optic atrophy0ACO2 CL E G H50118OMIM:614559INFANTILE CEREBELLAR-RETINAL DEGENERATION; ICRD60
HP:0000648HP:0000648Optic atrophy0ACO2 CL E G H50118OMIM:616289Optic atrophy 9.60
HP:0000648HP:0000648Optic atrophy0ACOX1 CL E G H51119OMIM:264470Peroxisomal acyl-coa oxidase deficiency.120
HP:0000648HP:0000648Optic atrophy0ACOX1 CL E G H51119ORPHA:2971Peroxisomal acyl-CoA oxidase deficiencyHP:0040282 - Frequent120
HP:0000648HP:0000648Optic atrophy0ACTL6B CL E G H51412160ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040284 - Very rare2
HP:0000648HP:0000648Optic atrophy0ADA2 CL E G H518161839OMIM:615688Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome22
HP:0000648HP:0000648Optic atrophy0ADAM22 CL E G H53616201OMIM:617933Epileptic encephalopathy, early infantile, 61.
HP:0000648HP:0000648Optic atrophy0ADAR CL E G H103225ORPHA:225154Familial infantile bilateral striatal necrosisHP:0040282 - Frequent116
HP:0000648HP:0000648Optic atrophy0AFF4 CL E G H2712517869OMIM:616368CHOPS syndromeHP:0040283 - Occasional6
HP:0000648HP:0000648Optic atrophy0AFG3L2 CL E G H10939315OMIM:618977OPTIC ATROPHY 12; OPA1286
HP:0000648HP:0000648Optic atrophy0AGBL5 CL E G H6050926147ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent2
HP:0000648HP:0000648Optic atrophy0AGTPBP1 CL E G H2328717258ORPHA:2254Pontocerebellar hypoplasia type 11
HP:0000648HP:0000648Optic atrophy0AGXT CL E G H189341OMIM:259900Hyperoxaluria, primary, type I.260
HP:0000648HP:0000648Optic atrophy0AHI1 CL E G H5480621575ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent175
HP:0000648HP:0000648Optic atrophy0AHR CL E G H196348ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent2
HP:0000648HP:0000648Optic atrophy0AKT3 CL E G H10000393ORPHA:99802HemimegalencephalyHP:0040283 - Occasional19
HP:0000648HP:0000648Optic atrophy0ALG13 CL E G H7986830881OMIM:300884Epileptic encephalopathy, early infantile, 36.96
HP:0000648HP:0000648Optic atrophy0ALG3 CL E G H1019523056OMIM:601110Congenital disorder of glycosylation, type Id.37
HP:0000648HP:0000648Optic atrophy0ALG8 CL E G H7905323161ORPHA:79325ALG8-CDGHP:0040283 - Occasional46
HP:0000648HP:0000648Optic atrophy0AMPD2 CL E G H271469OMIM:615809Pontocerebellar hypoplasia, type 9.21
HP:0000648HP:0000648Optic atrophy0ANTXR1 CL E G H8416821014ORPHA:2067GAPO syndromeHP:0040283 - Occasional8
HP:0000648HP:0000648Optic atrophy0ANTXR1 CL E G H8416821014OMIM:230740Gapo syndrome.8
HP:0000648HP:0000648Optic atrophy0AP3B2 CL E G H8120567ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040284 - Very rare7
HP:0000648HP:0000648Optic atrophy0ARHGEF18 CL E G H2337017090ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent6
HP:0000648HP:0000648Optic atrophy0ARL2BP CL E G H2356817146ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent3
HP:0000648HP:0000648Optic atrophy0ARL3 CL E G H403694ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent1
HP:0000648HP:0000648Optic atrophy0ARL6 CL E G H8410013210ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent29
HP:0000648HP:0000648Optic atrophy0ARSA CL E G H410713OMIM:250100Metachromatic leukodystrophy.253
HP:0000648HP:0000648Optic atrophy0ARSA CL E G H410713ORPHA:309271Metachromatic leukodystrophy, adult formHP:0040282 - Frequent253
HP:0000648HP:0000648Optic atrophy0ARSA CL E G H410713ORPHA:309263Metachromatic leukodystrophy, juvenile formHP:0040282 - Frequent253
HP:0000648HP:0000648Optic atrophy0ARSA CL E G H410713ORPHA:309256Metachromatic leukodystrophy, late infantile formHP:0040282 - Frequent253
HP:0000648HP:0000648Optic atrophy0ARV1 CL E G H6480129561ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040284 - Very rare3
HP:0000648HP:0000648Optic atrophy0ARVCF CL E G H421728ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional1
HP:0000648HP:0000648Optic atrophy0ARX CL E G H17030218060OMIM:300004Corpus callosum, agenesis of, with abnormal genitalia.166
HP:0000648HP:0000648Optic atrophy0ASPA CL E G H443756OMIM:271900Canavan disease48
HP:0000648HP:0000648Optic atrophy0ASPA CL E G H443756ORPHA:314911Severe Canavan diseaseHP:0040282 - Frequent48
HP:0000648HP:0000648Optic atrophy0ASXL1 CL E G H17102318318ORPHA:97297Bohring-Opitz syndromeHP:0040282 - Frequent145
HP:0000648HP:0000648Optic atrophy0ATAD3A CL E G H5521025567OMIM:617183Harel-Yoon syndrome.5
HP:0000648HP:0000648Optic atrophy0ATAD3A CL E G H5521025567ORPHA:496790Ocular anomalies-axonal neuropathy-developmental delay syndromeHP:0040283 - Occasional5
HP:0000648HP:0000648Optic atrophy0ATG7 CL E G H1053316935OMIM:619422SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31; SCAR311
HP:0000648HP:0000648Optic atrophy0ATIC CL E G H471794OMIM:608688Aicar transformylase/imp cyclohydrolase deficiency.4
HP:0000648HP:0000648Optic atrophy0ATP1A2 CL E G H477800ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040284 - Very rare239
HP:0000648HP:0000648Optic atrophy0ATP1A3 CL E G H478801OMIM:601338Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss.150
HP:0000648HP:0000648Optic atrophy0ATP1A3 CL E G H478801ORPHA:1171Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndromeHP:0040281 - Very frequent150
HP:0000648HP:0000648Optic atrophy0ATP1A3 CL E G H478801ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040284 - Very rare150
HP:0000648HP:0000648Optic atrophy0ATP6 CL E G H45087414ORPHA:225154Familial infantile bilateral striatal necrosisHP:0040282 - Frequent
HP:0000648HP:0000648Optic atrophy0ATP6 CL E G H45087414ORPHA:104Leber hereditary optic neuropathyHP:0040282 - Frequent
HP:0000648HP:0000648Optic atrophy0ATP6 CL E G H45087414OMIM:535000Leber optic atrophy.
HP:0000648HP:0000648Optic atrophy0ATP6 CL E G H45087414ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040283 - Occasional
HP:0000648HP:0000648Optic atrophy0ATP6V1A CL E G H523851OMIM:618012Epileptic encephalopathy, infantile or early childhood, 3.3
HP:0000648HP:0000648Optic atrophy0ATP6V1A CL E G H523851ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040284 - Very rare3
HP:0000648HP:0000648Optic atrophy0ATP6V1B2 CL E G H526854ORPHA:79500DOORS syndromeHP:0040283 - Occasional5
HP:0000648HP:0000648Optic atrophy0ATRX CL E G H546886ORPHA:847Alpha-thalassemia-X-linked intellectual disability syndromeHP:0040283 - Occasional169
HP:0000648HP:0000648Optic atrophy0ATRX CL E G H546886OMIM:309580Mental retardation-hypotonic facies syndrome, X-linked, 1.169
HP:0000648HP:0000648Optic atrophy0ATXN1 CL E G H631010548OMIM:164400Spinocerebellar ataxia 1.19
HP:0000648HP:0000648Optic atrophy0ATXN1 CL E G H631010548ORPHA:98755Spinocerebellar ataxia type 1HP:0040283 - Occasional19
HP:0000648HP:0000648Optic atrophy0ATXN7 CL E G H631410560OMIM:164500Spinocerebellar ataxia 7 opca III opca with retinal degeneration opca with macular degeneration and external ophthalmoplegia autosomal dominant cerebellar ataxia, type II adca, type II8
HP:0000648HP:0000648Optic atrophy0AUH CL E G H549890OMIM:2509503-methylglutaconic aciduria, type I49
HP:0000648HP:0000648Optic atrophy0B3GALNT2 CL E G H14878928596ORPHA:588Muscle-eye-brain diseaseHP:0040281 - Very frequent43
HP:0000648HP:0000648Optic atrophy0B3GALNT2 CL E G H14878928596ORPHA:899Walker-Warburg syndromeHP:0040281 - Very frequent43
HP:0000648HP:0000648Optic atrophy0B3GLCT CL E G H14517320207ORPHA:709Peters plus syndromeHP:0040283 - Occasional36
HP:0000648HP:0000648Optic atrophy0B4GAT1 CL E G H1104115685ORPHA:899Walker-Warburg syndromeHP:0040281 - Very frequent17
HP:0000648HP:0000648Optic atrophy0B9D1 CL E G H2707724123ORPHA:564Meckel syndromeHP:0040282 - Frequent28
HP:0000648HP:0000648Optic atrophy0B9D2 CL E G H8077628636ORPHA:564Meckel syndromeHP:0040282 - Frequent34
HP:0000648HP:0000648Optic atrophy0BBS1 CL E G H582966ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent114
HP:0000648HP:0000648Optic atrophy0BBS2 CL E G H583967ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent97
HP:0000648HP:0000648Optic atrophy0BCAP31 CL E G H1013416695OMIM:300475Deafness, dystonia, and cerebral hypomyelinationHP:0040283 - Occasional8
HP:0000648HP:0000648Optic atrophy0BCAP31 CL E G H1013416695ORPHA:369939Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndromeHP:0040283 - Occasional8
HP:0000648HP:0000648Optic atrophy0BEST1 CL E G H743912703ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent182
HP:0000648HP:0000648Optic atrophy0BOLA3 CL E G H38896224415OMIM:614299Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemiaHP:0040283 - Occasional14
HP:0000648HP:0000648Optic atrophy0BRAF CL E G H6731097ORPHA:1340Cardiofaciocutaneous syndromeHP:0040283 - Occasional276
HP:0000648HP:0000648Optic atrophy0BRAF CL E G H6731097ORPHA:54595CraniopharyngiomaHP:0040283 - Occasional276
HP:0000648HP:0000648Optic atrophy0BRAT1 CL E G H22192721701OMIM:614498Rigidity and multifocal seizure syndrome, lethal neonatalHP:0040283 - Occasional20
HP:0000648HP:0000648Optic atrophy0BTD CL E G H6861122ORPHA:79241Biotinidase deficiencyHP:0040283 - Occasional223
HP:0000648HP:0000648Optic atrophy0BTD CL E G H6861122OMIM:253260Biotinidase deficiencymultiple carboxylase deficiency, late-onset.223
HP:0000648HP:0000648Optic atrophy0C19ORF12 CL E G H8363625443ORPHA:289560Mitochondrial membrane protein-associated neurodegenerationHP:0040282 - Frequent114
HP:0000648HP:0000648Optic atrophy0C19ORF12 CL E G H8363625443OMIM:614298Neurodegeneration with brain iron accumulation 4.114
HP:0000648HP:0000648Optic atrophy0C19ORF12 CL E G H8363625443OMIM:615043Spastic paraplegia 43, autosomal recessive114
HP:0000648HP:0000648Optic atrophy0CA2 CL E G H7601373ORPHA:2785Osteopetrosis with renal tubular acidosisHP:0040283 - Occasional29
HP:0000648HP:0000648Optic atrophy0CA4 CL E G H7621375ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent23
HP:0000648HP:0000648Optic atrophy0CACNA1A CL E G H7731388ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040284 - Very rare449
HP:0000648HP:0000648Optic atrophy0CACNA1B CL E G H7741389ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040284 - Very rare5
HP:0000648HP:0000648Optic atrophy0CACNA2D1 CL E G H7811399ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040284 - Very rare59
HP:0000648HP:0000648Optic atrophy0CASK CL E G H85731497ORPHA:163937X-linked intellectual disability, Najm typeHP:0040283 - Occasional118
HP:0000648HP:0000648Optic atrophy0CASR CL E G H8461514ORPHA:428Autosomal dominant hypocalcemiaHP:0040283 - Occasional272
HP:0000648HP:0000648Optic atrophy0CASZ1 CL E G H5489726002ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional3
HP:0000648HP:0000648Optic atrophy0CBS CL E G H8751550ORPHA:394Classic homocystinuriaHP:0040283 - Occasional242
HP:0000648HP:0000648Optic atrophy0CC2D2A CL E G H5754529253ORPHA:564Meckel syndromeHP:0040282 - Frequent247
HP:0000648HP:0000648Optic atrophy0CCDC22 CL E G H2895228909ORPHA:73C syndromeHP:0040283 - Occasional33
HP:0000648HP:0000648Optic atrophy0CCDC88A CL E G H5570425523OMIM:617507Peho-Like syndrome.1
HP:0000648HP:0000648Optic atrophy0CDC42 CL E G H9981736ORPHA:487796Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndromeHP:0040283 - Occasional6
HP:0000648HP:0000648Optic atrophy0CDC42 CL E G H9981736OMIM:616737Takenouchi-Kosaki syndrome.6
HP:0000648HP:0000648Optic atrophy0CDHR1 CL E G H9221114550ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent147
HP:0000648HP:0000648Optic atrophy0CDK19 CL E G H2309719338ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040284 - Very rare
HP:0000648HP:0000648Optic atrophy0CELF2 CL E G H106592550ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040284 - Very rare
HP:0000648HP:0000648Optic atrophy0CEP290 CL E G H8018429021ORPHA:564Meckel syndromeHP:0040282 - Frequent342
HP:0000648HP:0000648Optic atrophy0CERKL CL E G H37529821699ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent71
HP:0000648HP:0000648Optic atrophy0CFAP410 CL E G H7551260OMIM:602271Spondylometaphyseal dysplasia, axial.
HP:0000648HP:0000648Optic atrophy0CFAP418 CL E G H15765727232ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent
HP:0000648HP:0000648Optic atrophy0CHD7 CL E G H5563620626ORPHA:138CHARGE syndromeHP:0040282 - Frequent515
HP:0000648HP:0000648Optic atrophy0CHSY1 CL E G H2285617198OMIM:605282Temtamy preaxial brachydactyly syndromeHP:0040283 - Occasional16
HP:0000648HP:0000648Optic atrophy0CHSY1 CL E G H2285617198ORPHA:363417Temtamy preaxial brachydactyly syndromeHP:0040283 - Occasional16
HP:0000648HP:0000648Optic atrophy0CISD2 CL E G H49385624212ORPHA:3463Wolfram syndromeHP:0040281 - Very frequent3
HP:0000648HP:0000648Optic atrophy0CISD2 CL E G H49385624212OMIM:604928Wolfram syndrome 23
HP:0000648HP:0000648Optic atrophy0CKAP2L CL E G H15046826877ORPHA:3255Filippi syndromeHP:0040282 - Frequent7
HP:0000648HP:0000648Optic atrophy0CKAP2L CL E G H15046826877OMIM:272440Filippi syndrome.7
HP:0000648HP:0000648Optic atrophy0CLCN3 CL E G H11822021OMIM:619512NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA2
HP:0000648HP:0000648Optic atrophy0CLCN7 CL E G H11862025ORPHA:53Albers-Schönberg osteopetrosisHP:0040282 - Frequent102
HP:0000648HP:0000648Optic atrophy0CLCN7 CL E G H11862025ORPHA:210110Intermediate osteopetrosis102
HP:0000648HP:0000648Optic atrophy0CLCN7 CL E G H11862025OMIM:611490Osteopetrosis, autosomal recessive 4.102
HP:0000648HP:0000648Optic atrophy0CLN3 CL E G H12012074OMIM:204200Ceroid lipofuscinosis, neuronal, 3.216
HP:0000648HP:0000648Optic atrophy0CLN3 CL E G H12012074ORPHA:228346CLN3 disease216
HP:0000648HP:0000648Optic atrophy0CLP1 CL E G H1097816999ORPHA:411493Pontocerebellar hypoplasia type 10HP:0040284 - Very rare7
HP:0000648HP:0000648Optic atrophy0CLRN1 CL E G H740112605ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent60
HP:0000648HP:0000648Optic atrophy0CLTC CL E G H12132092ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040284 - Very rare1
HP:0000648HP:0000648Optic atrophy0CNGA1 CL E G H12592148ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent44
HP:0000648HP:0000648Optic atrophy0CNGB1 CL E G H12582151ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent164
HP:0000648HP:0000648Optic atrophy0CNKSR2 CL E G H2286619701ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040284 - Very rare18
HP:0000648HP:0000648Optic atrophy0CNNM4 CL E G H26504105ORPHA:1873Jalili syndromeHP:0040282 - Frequent61
HP:0000648HP:0000648Optic atrophy0CNOT3 CL E G H48497879OMIM:618672INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES; IDDSADF
HP:0000648HP:0000648Optic atrophy0COA8 CL E G H8433420492ORPHA:436271Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathyHP:0040282 - Frequent
HP:0000648HP:0000648Optic atrophy0COG6 CL E G H5751118621OMIM:614576CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L71
HP:0000648HP:0000648Optic atrophy0COL4A1 CL E G H12822202ORPHA:899Walker-Warburg syndromeHP:0040281 - Very frequent193
HP:0000648HP:0000648Optic atrophy0COMT CL E G H13122228ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional6
HP:0000648HP:0000648Optic atrophy0COX1 CL E G H45127419ORPHA:104Leber hereditary optic neuropathyHP:0040282 - Frequent
HP:0000648HP:0000648Optic atrophy0COX1 CL E G H45127419ORPHA:550MELASHP:0040283 - Occasional
HP:0000648HP:0000648Optic atrophy0COX15 CL E G H13552263ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent104
HP:0000648HP:0000648Optic atrophy0COX2 CL E G H45137421ORPHA:550MELASHP:0040283 - Occasional
HP:0000648HP:0000648Optic atrophy0COX3 CL E G H45147422ORPHA:104Leber hereditary optic neuropathyHP:0040282 - Frequent
HP:0000648HP:0000648Optic atrophy0COX3 CL E G H45147422OMIM:535000Leber optic atrophy.
HP:0000648HP:0000648Optic atrophy0COX3 CL E G H45147422ORPHA:550MELASHP:0040283 - Occasional
HP:0000648HP:0000648Optic atrophy0CPLX1 CL E G H108152309ORPHA:280Wolf-Hirschhorn syndromeHP:0040282 - Frequent1
HP:0000648HP:0000648Optic atrophy0CPSF3 CL E G H516922326OMIM:619876
HP:0000648HP:0000648Optic atrophy0CRB1 CL E G H234182343ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent156
HP:0000648HP:0000648Optic atrophy0CRPPA CL E G H72992037276ORPHA:899Walker-Warburg syndromeHP:0040281 - Very frequent
HP:0000648HP:0000648Optic atrophy0CRX CL E G H14062383ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent158
HP:0000648HP:0000648Optic atrophy0CSF1R CL E G H14362433OMIM:618476Brain abnormalities, neurodegeneration, and dysosteosclerosisHP:0040284 - Very rare149
HP:0000648HP:0000648Optic atrophy0CSPP1 CL E G H7984826193ORPHA:564Meckel syndromeHP:0040282 - Frequent57
HP:0000648HP:0000648Optic atrophy0CTBP1 CL E G H14872494ORPHA:280Wolf-Hirschhorn syndromeHP:0040282 - Frequent2
HP:0000648HP:0000648Optic atrophy0CTC1 CL E G H8016926169OMIM:612199Cerebroretinal microangiopathy with calcifications and cysts.160
HP:0000648HP:0000648Optic atrophy0CTNNB1 CL E G H14992514ORPHA:54595CraniopharyngiomaHP:0040283 - Occasional88
HP:0000648HP:0000648Optic atrophy0CTNNB1 CL E G H14992514OMIM:615075Neurodevelopmental disorder with spastic diplegia and visual defectsHP:0040284 - Very rare88
HP:0000648HP:0000648Optic atrophy0CYFIP2 CL E G H2699913760ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040284 - Very rare1
HP:0000648HP:0000648Optic atrophy0CYP27A1 CL E G H15932605ORPHA:909Cerebrotendinous xanthomatosisHP:0040283 - Occasional114
HP:0000648HP:0000648Optic atrophy0CYP7B1 CL E G H94202652OMIM:270800Spastic paraplegia 5A, autosomal recessive.57
HP:0000648HP:0000648Optic atrophy0CYTB CL E G H45197427ORPHA:137675Histiocytoid cardiomyopathyHP:0040284 - Very rare
HP:0000648HP:0000648Optic atrophy0CYTB CL E G H45197427ORPHA:104Leber hereditary optic neuropathyHP:0040282 - Frequent
HP:0000648HP:0000648Optic atrophy0CYTB CL E G H45197427OMIM:535000Leber optic atrophy.
HP:0000648HP:0000648Optic atrophy0DAG1 CL E G H16052666ORPHA:899Walker-Warburg syndromeHP:0040281 - Very frequent108
HP:0000648HP:0000648Optic atrophy0DALRD3 CL E G H5515225536ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040284 - Very rare
HP:0000648HP:0000648Optic atrophy0DARS2 CL E G H5515725538ORPHA:137898Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndromeHP:0040284 - Very rare60
HP:0000648HP:0000648Optic atrophy0DDB2 CL E G H16432718ORPHA:910Xeroderma pigmentosumHP:0040281 - Very frequent30
HP:0000648HP:0000648Optic atrophy0DENND5A CL E G H2325819344OMIM:617281Epileptic encephalopathy, early infantile, 49HP:0040284 - Very rare6
HP:0000648HP:0000648Optic atrophy0DGUOK CL E G H17162858ORPHA:329314Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiencyHP:0040283 - Occasional57
HP:0000648HP:0000648Optic atrophy0DHCR7 CL E G H17172860ORPHA:818Smith-Lemli-Opitz syndromeHP:0040283 - Occasional159
HP:0000648HP:0000648Optic atrophy0DHDDS CL E G H7994720603ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040284 - Very rare47
HP:0000648HP:0000648Optic atrophy0DHDDS CL E G H7994720603ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent47
HP:0000648HP:0000648Optic atrophy0DHX38 CL E G H978517211ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent1
HP:0000648HP:0000648Optic atrophy0DIAPH1 CL E G H17292876OMIM:616632Seizures, cortical blindness, and microcephaly syndrome.118
HP:0000648HP:0000648Optic atrophy0DKC1 CL E G H17362890OMIM:305000Dyskeratosis congenita, X-linked.65
HP:0000648HP:0000648Optic atrophy0DNAJC19 CL E G H13111830528OMIM:6101983-@methylglutaconic aciduria, type V.25
HP:0000648HP:0000648Optic atrophy0DNAJC19 CL E G H13111830528ORPHA:66634Dilated cardiomyopathy with ataxiaHP:0040283 - Occasional25
HP:0000648HP:0000648Optic atrophy0DNAJC30 CL E G H8427716410ORPHA:104Leber hereditary optic neuropathyHP:0040282 - Frequent
HP:0000648HP:0000648Optic atrophy0DNM1 CL E G H17592972ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040284 - Very rare72
HP:0000648HP:0000648Optic atrophy0DNM1L CL E G H100592973ORPHA:98673Autosomal dominant optic atrophy, classic formHP:0040281 - Very frequent94
HP:0000648HP:0000648Optic atrophy0DNM1L CL E G H100592973ORPHA:330050DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defectHP:0040282 - Frequent94
HP:0000648HP:0000648Optic atrophy0DNM1L CL E G H100592973OMIM:614388Encephalopathy due to defective mitochondrial and peroxisomal fission 1.94
HP:0000648HP:0000648Optic atrophy0DNM1L CL E G H100592973OMIM:610708Optic atrophy 5.94
HP:0000648HP:0000648Optic atrophy0DNMT1 CL E G H17862976ORPHA:314404Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndromeHP:0040282 - Frequent145
HP:0000648HP:0000648Optic atrophy0DNMT1 CL E G H17862976OMIM:604121Cerebellar ataxia, deafness, and narcolepsy, autosomal dominantHP:0040283 - Occasional145
HP:0000648HP:0000648Optic atrophy0DOCK6 CL E G H5757219189OMIM:614219Adams-Oliver syndrome 2HP:0040283 - Occasional18
HP:0000648HP:0000648Optic atrophy0DPAGT1 CL E G H17982995ORPHA:86309DPAGT1-CDGHP:0040283 - Occasional38
HP:0000648HP:0000648Optic atrophy0DPM1 CL E G H88133005OMIM:608799Congenital disorder of glycosylation, type IE.27
HP:0000648HP:0000648Optic atrophy0DPM1 CL E G H88133005ORPHA:79322DPM1-CDGHP:0040283 - Occasional27
HP:0000648HP:0000648Optic atrophy0DPM2 CL E G H88183006OMIM:615042Congenital disorder of glycosylation, type IuHP:0040282 - Frequent26
HP:0000648HP:0000648Optic atrophy0DPM2 CL E G H88183006ORPHA:329178Congenital muscular dystrophy with intellectual disability and severe epilepsyHP:0040283 - Occasional26
HP:0000648HP:0000648Optic atrophy0DPYD CL E G H18063012OMIM:274270Dihydropyrimidine dehydrogenase deficiency.144
HP:0000648HP:0000648Optic atrophy0ECHS1 CL E G H18923151ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent33
HP:0000648HP:0000648Optic atrophy0EEF1A2 CL E G H19173192ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040284 - Very rare60
HP:0000648HP:0000648Optic atrophy0EIF2B1 CL E G H19673257OMIM:603896Leukoencephalopathy with vanishing white matter.42
HP:0000648HP:0000648Optic atrophy0EIF2B2 CL E G H88923258OMIM:603896Leukoencephalopathy with vanishing white matter.24
HP:0000648HP:0000648Optic atrophy0EIF2B3 CL E G H88913259OMIM:603896Leukoencephalopathy with vanishing white matter.32
HP:0000648HP:0000648Optic atrophy0EIF2B4 CL E G H88903260OMIM:603896Leukoencephalopathy with vanishing white matter.38
HP:0000648HP:0000648Optic atrophy0EIF2B5 CL E G H88933261OMIM:603896Leukoencephalopathy with vanishing white matter.48
HP:0000648HP:0000648Optic atrophy0ELP1 CL E G H85185959ORPHA:1764Familial dysautonomiaHP:0040283 - Occasional133
HP:0000648HP:0000648Optic atrophy0ELP4 CL E G H266101171OMIM:617141Aniridia 24
HP:0000648HP:0000648Optic atrophy0EMC1 CL E G H2306528957OMIM:616875Cerebellar atrophy, visual impairment, and psychomotor retardation5
HP:0000648HP:0000648Optic atrophy0EMC1 CL E G H2306528957ORPHA:480898Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndromeHP:0040283 - Occasional5
HP:0000648HP:0000648Optic atrophy0EPG5 CL E G H5772429331ORPHA:1493Vici syndromeHP:0040282 - Frequent40
HP:0000648HP:0000648Optic atrophy0EPRS1 CL E G H20583418OMIM:617951Leukodystrophy, hypomyelinating, 15.
HP:0000648HP:0000648Optic atrophy0ERCC1 CL E G H20673433ORPHA:1466COFS syndromeHP:0040283 - Occasional20
HP:0000648HP:0000648Optic atrophy0ERCC2 CL E G H20683434ORPHA:1466COFS syndromeHP:0040283 - Occasional106
HP:0000648HP:0000648Optic atrophy0ERCC2 CL E G H20683434ORPHA:910Xeroderma pigmentosumHP:0040281 - Very frequent106
HP:0000648HP:0000648Optic atrophy0ERCC2 CL E G H20683434ORPHA:220295Xeroderma pigmentosum-Cockayne syndrome complexHP:0040281 - Very frequent106
HP:0000648HP:0000648Optic atrophy0ERCC3 CL E G H20713435ORPHA:910Xeroderma pigmentosumHP:0040281 - Very frequent54
HP:0000648HP:0000648Optic atrophy0ERCC3 CL E G H20713435OMIM:610651Xeroderma pigmentosum, complementation group B.54
HP:0000648HP:0000648Optic atrophy0ERCC3 CL E G H20713435ORPHA:220295Xeroderma pigmentosum-Cockayne syndrome complexHP:0040281 - Very frequent54
HP:0000648HP:0000648Optic atrophy0ERCC4 CL E G H20723436ORPHA:90321Cockayne syndrome type 1HP:0040282 - Frequent158
HP:0000648HP:0000648Optic atrophy0ERCC4 CL E G H20723436ORPHA:910Xeroderma pigmentosumHP:0040281 - Very frequent158
HP:0000648HP:0000648Optic atrophy0ERCC4 CL E G H20723436ORPHA:220295Xeroderma pigmentosum-Cockayne syndrome complexHP:0040281 - Very frequent158
HP:0000648HP:0000648Optic atrophy0ERCC4 CL E G H20723436OMIM:610965XFE progeroid syndrome.158
HP:0000648HP:0000648Optic atrophy0ERCC5 CL E G H20733437ORPHA:1466COFS syndromeHP:0040283 - Occasional83
HP:0000648HP:0000648Optic atrophy0ERCC5 CL E G H20733437ORPHA:910Xeroderma pigmentosumHP:0040281 - Very frequent83
HP:0000648HP:0000648Optic atrophy0ERCC5 CL E G H20733437ORPHA:220295Xeroderma pigmentosum-Cockayne syndrome complexHP:0040281 - Very frequent83
HP:0000648HP:0000648Optic atrophy0ERCC6 CL E G H20743438ORPHA:90321Cockayne syndrome type 1HP:0040282 - Frequent199
HP:0000648HP:0000648Optic atrophy0ERCC6 CL E G H20743438OMIM:133540Cockayne syndrome, type B.199
HP:0000648HP:0000648Optic atrophy0ERCC6 CL E G H20743438ORPHA:1466COFS syndromeHP:0040283 - Occasional199
HP:0000648HP:0000648Optic atrophy0ERCC6 CL E G H20743438OMIM:278800De Sanctis-Cacchione syndrome199
HP:0000648HP:0000648Optic atrophy0ERCC8 CL E G H11613439OMIM:216400Cockayne syndrome A.55
HP:0000648HP:0000648Optic atrophy0ERCC8 CL E G H11613439ORPHA:90321Cockayne syndrome type 1HP:0040282 - Frequent55
HP:0000648HP:0000648Optic atrophy0ERF CL E G H20773444ORPHA:207Crouzon diseaseHP:0040283 - Occasional12
HP:0000648HP:0000648Optic atrophy0EXOSC3 CL E G H5101017944ORPHA:2254Pontocerebellar hypoplasia type 138
HP:0000648HP:0000648Optic atrophy0EXOSC5 CL E G H5691524662OMIM:619576CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS; CABAC
HP:0000648HP:0000648Optic atrophy0EXOSC8 CL E G H1134017035ORPHA:2254Pontocerebellar hypoplasia type 14
HP:0000648HP:0000648Optic atrophy0EXOSC9 CL E G H53939137ORPHA:2254Pontocerebellar hypoplasia type 1
HP:0000648HP:0000648Optic atrophy0EYS CL E G H34600721555ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent209
HP:0000648HP:0000648Optic atrophy0FA2H CL E G H7915221197ORPHA:171629Autosomal recessive spastic paraplegia type 35HP:0040284 - Very rare76
HP:0000648HP:0000648Optic atrophy0FA2H CL E G H7915221197ORPHA:329308Fatty acid hydroxylase-associated neurodegenerationHP:0040282 - Frequent76
HP:0000648HP:0000648Optic atrophy0FA2H CL E G H7915221197OMIM:612319Spastic paraplegia 35, autosomal recessive.76
HP:0000648HP:0000648Optic atrophy0FAM161A CL E G H8414025808ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent56
HP:0000648HP:0000648Optic atrophy0FCSK CL E G H19725829500OMIM:618324Congenital disorder of glycosylation with defective fucosylation 2.
HP:0000648HP:0000648Optic atrophy0FDX2 CL E G H11281230546OMIM:251900Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathyHP:0040284 - Very rare
HP:0000648HP:0000648Optic atrophy0FDXR CL E G H22323642OMIM:617717Auditory neuropathy and optic atrophy.
HP:0000648HP:0000648Optic atrophy0FDXR CL E G H22323642ORPHA:543470Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndromeHP:0040281 - Very frequent
HP:0000648HP:0000648Optic atrophy0FGF12 CL E G H22573668ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040284 - Very rare3
HP:0000648HP:0000648Optic atrophy0FGF13 CL E G H22583670ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040284 - Very rare1
HP:0000648HP:0000648Optic atrophy0FGFR2 CL E G H22633689ORPHA:87Apert syndromeHP:0040283 - Occasional175
HP:0000648HP:0000648Optic atrophy0FGFR2 CL E G H22633689OMIM:123790Beare-Stevenson cutis gyrata syndrome175
HP:0000648HP:0000648Optic atrophy0FGFR2 CL E G H22633689ORPHA:207Crouzon diseaseHP:0040283 - Occasional175
HP:0000648HP:0000648Optic atrophy0FGFR2 CL E G H22633689OMIM:123500Crouzon syndrome.175
HP:0000648HP:0000648Optic atrophy0FGFR2 CL E G H22633689ORPHA:1555Cutis gyrata-acanthosis nigricans-craniosynostosis syndromeHP:0040283 - Occasional175
HP:0000648HP:0000648Optic atrophy0FGFR2 CL E G H22633689ORPHA:794Saethre-Chotzen syndromeHP:0040283 - Occasional175
HP:0000648HP:0000648Optic atrophy0FGFR3 CL E G H22613690ORPHA:93262Crouzon syndrome-acanthosis nigricans syndromeHP:0040283 - Occasional145
HP:0000648HP:0000648Optic atrophy0FGFR3 CL E G H22613690ORPHA:794Saethre-Chotzen syndromeHP:0040283 - Occasional145
HP:0000648HP:0000648Optic atrophy0FH CL E G H22713700OMIM:606812Fumarase deficiency.301
HP:0000648HP:0000648Optic atrophy0FKRP CL E G H7914717997ORPHA:370959Congenital muscular dystrophy with cerebellar involvementHP:0040283 - Occasional157
HP:0000648HP:0000648Optic atrophy0FKRP CL E G H7914717997ORPHA:588Muscle-eye-brain diseaseHP:0040281 - Very frequent157
HP:0000648HP:0000648Optic atrophy0FKRP CL E G H7914717997OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1157
HP:0000648HP:0000648Optic atrophy0FKRP CL E G H7914717997ORPHA:899Walker-Warburg syndromeHP:0040281 - Very frequent157
HP:0000648HP:0000648Optic atrophy0FKTN CL E G H22183622ORPHA:272Congenital muscular dystrophy, Fukuyama typeHP:0040283 - Occasional184
HP:0000648HP:0000648Optic atrophy0FKTN CL E G H22183622ORPHA:588Muscle-eye-brain diseaseHP:0040281 - Very frequent184
HP:0000648HP:0000648Optic atrophy0FKTN CL E G H22183622OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1184
HP:0000648HP:0000648Optic atrophy0FKTN CL E G H22183622OMIM:253800MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4.184
HP:0000648HP:0000648Optic atrophy0FKTN CL E G H22183622ORPHA:899Walker-Warburg syndromeHP:0040281 - Very frequent184
HP:0000648HP:0000648Optic atrophy0FLRT1 CL E G H237693760ORPHA:320406Spastic paraplegia-optic atrophy-neuropathy syndromeHP:0040281 - Very frequent
HP:0000648HP:0000648Optic atrophy0FLVCR1 CL E G H2898224682OMIM:609033Ataxia, posterior column, with retinitis pigmentosa.111
HP:0000648HP:0000648Optic atrophy0FOXRED1 CL E G H5557226927ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent61
HP:0000648HP:0000648Optic atrophy0FOXRED1 CL E G H5557226927OMIM:618241Mitochondrial complex I deficiency, nuclear type 19HP:0040284 - Very rare61
HP:0000648HP:0000648Optic atrophy0FRMPD4 CL E G H975829007OMIM:300983MENTAL RETARDATION, X-LINKED 104; MRX10432
HP:0000648HP:0000648Optic atrophy0FSCN2 CL E G H257943960ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent26
HP:0000648HP:0000648Optic atrophy0FSCN2 CL E G H257943960OMIM:607921RETINITIS PIGMENTOSA 30; RP3026
HP:0000648HP:0000648Optic atrophy0FXN CL E G H23953951ORPHA:95Friedreich ataxiaHP:0040282 - Frequent18
HP:0000648HP:0000648Optic atrophy0FXN CL E G H23953951OMIM:229300Friedreich ataxia 1.18
HP:0000648HP:0000648Optic atrophy0FZR1 CL E G H5134324824ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040284 - Very rare
HP:0000648HP:0000648Optic atrophy0GABBR2 CL E G H95684507ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040284 - Very rare5
HP:0000648HP:0000648Optic atrophy0GABRA2 CL E G H25554076ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040284 - Very rare4
HP:0000648HP:0000648Optic atrophy0GABRA5 CL E G H25584079ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040284 - Very rare
HP:0000648HP:0000648Optic atrophy0GABRB2 CL E G H25614082ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040284 - Very rare44
HP:0000648HP:0000648Optic atrophy0GABRD CL E G H25634084ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional10
HP:0000648HP:0000648Optic atrophy0GABRG2 CL E G H25664087ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040284 - Very rare139
HP:0000648HP:0000648Optic atrophy0GALC CL E G H25814115ORPHA:206436Infantile Krabbe diseaseHP:0040283 - Occasional160
HP:0000648HP:0000648Optic atrophy0GALC CL E G H25814115OMIM:245200Krabbe disease.160
HP:0000648HP:0000648Optic atrophy0GEMIN4 CL E G H5062815717OMIM:617913Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalitiesHP:0040284 - Very rare1
HP:0000648HP:0000648Optic atrophy0GJA1 CL E G H26974274OMIM:218400Craniometaphyseal dysplasia, autosomal recessive.68
HP:0000648HP:0000648Optic atrophy0GJA1 CL E G H26974274ORPHA:2710Oculodentodigital dysplasiaHP:0040282 - Frequent68
HP:0000648HP:0000648Optic atrophy0GJC2 CL E G H5716517494OMIM:608804Leukodystrophy, hypomyelinating, 2.37
HP:0000648HP:0000648Optic atrophy0GLA CL E G H27174296ORPHA:324Fabry diseaseHP:0040282 - Frequent291
HP:0000648HP:0000648Optic atrophy0GLB1 CL E G H27204298OMIM:230600Gm1-gangliosidosis, type II.120
HP:0000648HP:0000648Optic atrophy0GLRX5 CL E G H5121820134ORPHA:401866Childhood-onset spasticity with hyperglycinemiaHP:0040282 - Frequent17
HP:0000648HP:0000648Optic atrophy0GLRX5 CL E G H5121820134OMIM:616859Spasticity, childhood-onset, with hyperglycinemia17
HP:0000648HP:0000648Optic atrophy0GMPPA CL E G H2992622923ORPHA:869Triple A syndromeHP:0040283 - Occasional24
HP:0000648HP:0000648Optic atrophy0GMPPB CL E G H2992522932ORPHA:370959Congenital muscular dystrophy with cerebellar involvementHP:0040283 - Occasional34
HP:0000648HP:0000648Optic atrophy0GMPPB CL E G H2992522932ORPHA:588Muscle-eye-brain diseaseHP:0040281 - Very frequent34
HP:0000648HP:0000648Optic atrophy0GNA11 CL E G H27674379ORPHA:428Autosomal dominant hypocalcemiaHP:0040283 - Occasional16
HP:0000648HP:0000648Optic atrophy0GNAQ CL E G H27764390ORPHA:3205Sturge-Weber syndromeHP:0040282 - Frequent7
HP:0000648HP:0000648Optic atrophy0GP1BB CL E G H28124440ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional8
HP:0000648HP:0000648Optic atrophy0GPAA1 CL E G H87334446OMIM:617810GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15; GPIBD15
HP:0000648HP:0000648Optic atrophy0GPAA1 CL E G H87334446ORPHA:529665Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndromeHP:0040284 - Very rare
HP:0000648HP:0000648Optic atrophy0GRIN2D CL E G H29064588ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040284 - Very rare2
HP:0000648HP:0000648Optic atrophy0GRN CL E G H28964601OMIM:614706Ceroid lipofuscinosis, neuronal, 11.126
HP:0000648HP:0000648Optic atrophy0GTPBP2 CL E G H546764670OMIM:617988Jaberi-Elahi syndrome.
HP:0000648HP:0000648Optic atrophy0GUCA1B CL E G H29794679ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent36
HP:0000648HP:0000648Optic atrophy0HCN1 CL E G H3489804845ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040284 - Very rare54
HP:0000648HP:0000648Optic atrophy0HGSNAT CL E G H13805026527ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent86
HP:0000648HP:0000648Optic atrophy0HIKESHI CL E G H5150126938OMIM:616881Leukodystrophy, hypomyelinating, 13HP:0040283 - Occasional3
HP:0000648HP:0000648Optic atrophy0HIRA CL E G H72904916ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional3
HP:0000648HP:0000648Optic atrophy0HK1 CL E G H30984922OMIM:618547NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES; NEDVIBA11
HP:0000648HP:0000648Optic atrophy0HLA-B CL E G H31064932ORPHA:397Giant cell arteritisHP:0040283 - Occasional4
HP:0000648HP:0000648Optic atrophy0HLA-DRB1 CL E G H31234948ORPHA:397Giant cell arteritisHP:0040283 - Occasional2
HP:0000648HP:0000648Optic atrophy0HSD17B10 CL E G H30284800ORPHA:391428HSD10 disease, infantile typeHP:0040283 - Occasional19
HP:0000648HP:0000648Optic atrophy0HSD17B10 CL E G H30284800OMIM:300438HSD10 mitochondrial disease.19
HP:0000648HP:0000648Optic atrophy0HSPG2 CL E G H33395273ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional345
HP:0000648HP:0000648Optic atrophy0HUWE1 CL E G H1007530892OMIM:309590Mental retardation, x-linked syndromic, Turner type.98
HP:0000648HP:0000648Optic atrophy0IBA57 CL E G H20020527302ORPHA:468661Autosomal recessive spastic paraplegia type 74HP:0040283 - Occasional16
HP:0000648HP:0000648Optic atrophy0IBA57 CL E G H20020527302OMIM:615330Multiple mitochondrial dysfunctions syndrome 3.16
HP:0000648HP:0000648Optic atrophy0IBA57 CL E G H20020527302OMIM:616451Spastic paraplegia 74, autosomal recessive.16
HP:0000648HP:0000648Optic atrophy0IDH3A CL E G H34195384ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent
HP:0000648HP:0000648Optic atrophy0IDH3B CL E G H34205385ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent30
HP:0000648HP:0000648Optic atrophy0IDS CL E G H34235389ORPHA:217093Mucopolysaccharidosis type 2, attenuated formHP:0040283 - Occasional86
HP:0000648HP:0000648Optic atrophy0IDS CL E G H34235389ORPHA:217085Mucopolysaccharidosis type 2, severe formHP:0040283 - Occasional86
HP:0000648HP:0000648Optic atrophy0IER3IP1 CL E G H5112418550OMIM:614231Microcephaly, epilepsy, and diabetes syndromeHP:0040283 - Occasional6
HP:0000648HP:0000648Optic atrophy0IFT140 CL E G H974229077ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent148
HP:0000648HP:0000648Optic atrophy0IFT172 CL E G H2616030391ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent48
HP:0000648HP:0000648Optic atrophy0IFT88 CL E G H810020606ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent3
HP:0000648HP:0000648Optic atrophy0IKBKG CL E G H85175961OMIM:308300Incontinentia pigmenti.52
HP:0000648HP:0000648Optic atrophy0IMPDH1 CL E G H36146052ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent52
HP:0000648HP:0000648Optic atrophy0IMPG1 CL E G H36176055ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent4
HP:0000648HP:0000648Optic atrophy0IMPG2 CL E G H5093918362ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent120
HP:0000648HP:0000648Optic atrophy0INPP5K CL E G H5176333882ORPHA:559Marinesco-Sjögren syndromeHP:0040283 - Occasional7
HP:0000648HP:0000648Optic atrophy0INTS8 CL E G H5565626048OMIM:618572NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR HYPOPLASIA AND SPASTICITY; NEDCHS2
HP:0000648HP:0000648Optic atrophy0ISCA2 CL E G H12296119857OMIM:616370Multiple mitochondrial dysfunctions syndrome 4.7
HP:0000648HP:0000648Optic atrophy0JMJD1C CL E G H22103712313ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional2
HP:0000648HP:0000648Optic atrophy0KANSL1 CL E G H28405824565ORPHA:36395817q21.31 microdeletion syndromeHP:0040283 - Occasional283
HP:0000648HP:0000648Optic atrophy0KANSL1 CL E G H28405824565ORPHA:363965Koolen-De Vries syndrome due to a point mutationHP:0040283 - Occasional283
HP:0000648HP:0000648Optic atrophy0KAT6A CL E G H799413013OMIM:616268Arboleda-Tham syndrome34
HP:0000648HP:0000648Optic atrophy0KAT6A CL E G H799413013ORPHA:457193Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndromeHP:0040283 - Occasional34
HP:0000648HP:0000648Optic atrophy0KCNA2 CL E G H37376220ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040284 - Very rare13
HP:0000648HP:0000648Optic atrophy0KCNAB2 CL E G H85146229ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional1
HP:0000648HP:0000648Optic atrophy0KCNB1 CL E G H37456231ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040284 - Very rare65
HP:0000648HP:0000648Optic atrophy0KCNC3 CL E G H37486235OMIM:605259Spinocerebellar ataxia 13.17
HP:0000648HP:0000648Optic atrophy0KCNC3 CL E G H37486235ORPHA:98768Spinocerebellar ataxia type 13HP:0040283 - Occasional17
HP:0000648HP:0000648Optic atrophy0KCTD7 CL E G H15488121957OMIM:611726Epilepsy, progressive myoclonic 3, with or without intracellular inclusions106
HP:0000648HP:0000648Optic atrophy0KCTD7 CL E G H15488121957ORPHA:263516Progressive myoclonic epilepsy type 3HP:0040283 - Occasional106
HP:0000648HP:0000648Optic atrophy0KIAA1549 CL E G H5767022219ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent
HP:0000648HP:0000648Optic atrophy0KIF11 CL E G H38326388OMIM:152950Microcephaly with or without chorioretinopathy, lymphedema, or mental retardationHP:0040283 - Occasional46
HP:0000648HP:0000648Optic atrophy0KIF11 CL E G H38326388ORPHA:2526Microcephaly-lymphedema-chorioretinopathy syndromeHP:0040283 - Occasional46
HP:0000648HP:0000648Optic atrophy0KIF1A CL E G H547888OMIM:614255Mental retardation, autosomal dominant 9HP:0040283 - Occasional276
HP:0000648HP:0000648Optic atrophy0KIF1A CL E G H547888ORPHA:2836PEHO syndromeHP:0040281 - Very frequent276
HP:0000648HP:0000648Optic atrophy0KIF7 CL E G H37465430497OMIM:200990Acrocallosal syndromeHP:0040283 - Occasional167
HP:0000648HP:0000648Optic atrophy0KIZ CL E G H5585715865ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent3
HP:0000648HP:0000648Optic atrophy0KLC2 CL E G H6483720716OMIM:609541Spastic paraplegia, optic atrophy, and neuropathy.1
HP:0000648HP:0000648Optic atrophy0KLC2 CL E G H6483720716ORPHA:320406Spastic paraplegia-optic atrophy-neuropathy syndromeHP:0040281 - Very frequent1
HP:0000648HP:0000648Optic atrophy0KLHL7 CL E G H5597515646ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent42
HP:0000648HP:0000648Optic atrophy0KNSTRN CL E G H9041730767OMIM:613328Roifman-Chitayat syndrome.1
HP:0000648HP:0000648Optic atrophy0KRAS CL E G H38456407ORPHA:1340Cardiofaciocutaneous syndromeHP:0040283 - Occasional196
HP:0000648HP:0000648Optic atrophy0L2HGDH CL E G H7994420499OMIM:236792L-2-Hydroxyglutaric aciduria.34
HP:0000648HP:0000648Optic atrophy0LAMB1 CL E G H39126486ORPHA:352682Cobblestone lissencephaly without muscular or ocular involvementHP:0040282 - Frequent71
HP:0000648HP:0000648Optic atrophy0LAMB1 CL E G H39126486OMIM:615191Lissencephaly 571
HP:0000648HP:0000648Optic atrophy0LARGE1 CL E G H92156511ORPHA:588Muscle-eye-brain diseaseHP:0040281 - Very frequent136
HP:0000648HP:0000648Optic atrophy0LARGE1 CL E G H92156511OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1136
HP:0000648HP:0000648Optic atrophy0LARGE1 CL E G H92156511OMIM:613154MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 6.136
HP:0000648HP:0000648Optic atrophy0LARGE1 CL E G H92156511ORPHA:899Walker-Warburg syndromeHP:0040281 - Very frequent136
HP:0000648HP:0000648Optic atrophy0LETM1 CL E G H39546556OMIM:6200892
HP:0000648HP:0000648Optic atrophy0LETM1 CL E G H39546556ORPHA:280Wolf-Hirschhorn syndromeHP:0040282 - Frequent2
HP:0000648HP:0000648Optic atrophy0LIPT1 CL E G H5160129569ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent21
HP:0000648HP:0000648Optic atrophy0LRAT CL E G H92276685ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent62
HP:0000648HP:0000648Optic atrophy0LRP4 CL E G H40386696ORPHA:3152SclerosteosisHP:0040283 - Occasional124
HP:0000648HP:0000648Optic atrophy0LRP5 CL E G H40416697ORPHA:178377Osteosclerosis-developmental delay-craniosynostosis syndromeHP:0040283 - Occasional125
HP:0000648HP:0000648Optic atrophy0LUZP1 CL E G H779814985ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional
HP:0000648HP:0000648Optic atrophy0MAG CL E G H40996783OMIM:616680Spastic paraplegia 75, autosomal recessive.4
HP:0000648HP:0000648Optic atrophy0MAK CL E G H41176816ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent53
HP:0000648HP:0000648Optic atrophy0MAP2K1 CL E G H56046840ORPHA:1340Cardiofaciocutaneous syndromeHP:0040283 - Occasional134
HP:0000648HP:0000648Optic atrophy0MAP2K2 CL E G H56056842ORPHA:1340Cardiofaciocutaneous syndromeHP:0040283 - Occasional178
HP:0000648HP:0000648Optic atrophy0MCOLN1 CL E G H5719213356OMIM:252650Mucolipidosis IV78
HP:0000648HP:0000648Optic atrophy0MECR CL E G H5110219691OMIM:617282Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities.6
HP:0000648HP:0000648Optic atrophy0MECR CL E G H5110219691ORPHA:508093MEPAN syndrome6
HP:0000648HP:0000648Optic atrophy0MERTK CL E G H104617027ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent75
HP:0000648HP:0000648Optic atrophy0MFF CL E G H5694724858OMIM:617086Encephalopathy due to defective mitochondrial and peroxisomal fission 2.17
HP:0000648HP:0000648Optic atrophy0MFF CL E G H5694724858ORPHA:485421MFF-related encephalopathy due to mitochondrial and peroxisomal fission defectHP:0040282 - Frequent17
HP:0000648HP:0000648Optic atrophy0MFN2 CL E G H992716877ORPHA:99947Autosomal dominant Charcot-Marie-Tooth disease type 2A2HP:0040284 - Very rare203
HP:0000648HP:0000648Optic atrophy0MFN2 CL E G H992716877OMIM:617087Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B.203
HP:0000648HP:0000648Optic atrophy0MFN2 CL E G H992716877OMIM:609260Charcot-marie-tooth disease, axonal, type 2A2AHP:0040283 - Occasional203
HP:0000648HP:0000648Optic atrophy0MFN2 CL E G H992716877OMIM:601152Hereditary motor and sensory neuropathy VI.203
HP:0000648HP:0000648Optic atrophy0MFSD8 CL E G H25647128486OMIM:610951Ceroid lipofuscinosis, neuronal, 7.120
HP:0000648HP:0000648Optic atrophy0MGP CL E G H42567060ORPHA:85202Keutel syndromeHP:0040283 - Occasional33
HP:0000648HP:0000648Optic atrophy0MICOS13 CL E G H12598833702OMIM:618329COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37; COXPD37
HP:0000648HP:0000648Optic atrophy0MICU1 CL E G H103671530OMIM:615673Myopathy with extrapyramidal signsHP:0040283 - Occasional14
HP:0000648HP:0000648Optic atrophy0MICU1 CL E G H103671530ORPHA:401768Proximal myopathy with extrapyramidal signsHP:0040283 - Occasional14
HP:0000648HP:0000648Optic atrophy0MID2 CL E G H110437096OMIM:300928MENTAL RETARDATION, X-LINKED 101; MRX1017
HP:0000648HP:0000648Optic atrophy0MINPP1 CL E G H95627102ORPHA:284339Pontocerebellar hypoplasia type 7HP:0040283 - Occasional3
HP:0000648HP:0000648Optic atrophy0MINPP1 CL E G H95627102OMIM:619527PONTOCEREBELLAR HYPOPLASIA, TYPE 16; PCH163
HP:0000648HP:0000648Optic atrophy0MKS1 CL E G H549037121ORPHA:564Meckel syndromeHP:0040282 - Frequent127
HP:0000648HP:0000648Optic atrophy0MMACHC CL E G H2597424525ORPHA:79282Methylmalonic acidemia with homocystinuria, type cblCHP:0040282 - Frequent101
HP:0000648HP:0000648Optic atrophy0MMP23B CL E G H85107171ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional
HP:0000648HP:0000648Optic atrophy0MMUT CL E G H45947526ORPHA:79312Vitamin B12-unresponsive methylmalonic acidemia type mut-HP:0040283 - Occasional
HP:0000648HP:0000648Optic atrophy0MMUT CL E G H45947526ORPHA:289916Vitamin B12-unresponsive methylmalonic acidemia type mut0HP:0040283 - Occasional
HP:0000648HP:0000648Optic atrophy0MOGS CL E G H784124862OMIM:606056Congenital disorder of glycosylation, type IIB.37
HP:0000648HP:0000648Optic atrophy0MOGS CL E G H784124862ORPHA:79330MOGS-CDGHP:0040283 - Occasional37
HP:0000648HP:0000648Optic atrophy0MPDU1 CL E G H95267207OMIM:609180Congenital disorder of glycosylation, type IF.32
HP:0000648HP:0000648Optic atrophy0MPDU1 CL E G H95267207ORPHA:79323MPDU1-CDG32
HP:0000648HP:0000648Optic atrophy0MPDZ CL E G H87777208OMIM:615219Hydrocephalus, congenital, 2, with or without brain or eye anomaliesHP:0040284 - Very rare29
HP:0000648HP:0000648Optic atrophy0MPLKIP CL E G H13664716002OMIM:234050Trichothiodystrophy 4, nonphotosensitiveHP:0040283 - Occasional9
HP:0000648HP:0000648Optic atrophy0MRPS34 CL E G H6599316618OMIM:617664Combined oxidative phosphorylation deficiency 32.1
HP:0000648HP:0000648Optic atrophy0MTFMT CL E G H12326329666OMIM:614947Combined oxidative phosphorylation deficiency 15HP:0040283 - Occasional29
HP:0000648HP:0000648Optic atrophy0MTFMT CL E G H12326329666ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent29
HP:0000648HP:0000648Optic atrophy0MTFMT CL E G H12326329666OMIM:618248Mitochondrial complex I deficiency, nuclear type 27.29
HP:0000648HP:0000648Optic atrophy0MTHFR CL E G H45247436ORPHA:395Homocystinuria due to methylene tetrahydrofolate reductase deficiencyHP:0040284 - Very rare183
HP:0000648HP:0000648Optic atrophy0MTO1 CL E G H2582119261OMIM:614702Combined oxidative phosphorylation deficiency 10HP:0040283 - Occasional39
HP:0000648HP:0000648Optic atrophy0MTOR CL E G H24753942ORPHA:99802HemimegalencephalyHP:0040283 - Occasional68
HP:0000648HP:0000648Optic atrophy0MTPAP CL E G H5514925532ORPHA:254343Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndromeHP:0040281 - Very frequent19
HP:0000648HP:0000648Optic atrophy0MTPAP CL E G H5514925532OMIM:613672Spastic ataxia 4, autosomal recessive.19
HP:0000648HP:0000648Optic atrophy0MTRFR CL E G H9157426784ORPHA:320375Autosomal recessive spastic paraplegia type 55HP:0040282 - Frequent
HP:0000648HP:0000648Optic atrophy0MTRFR CL E G H9157426784ORPHA:254930Combined oxidative phosphorylation defect type 7HP:0040281 - Very frequent
HP:0000648HP:0000648Optic atrophy0MTRFR CL E G H9157426784OMIM:613559Combined oxidative phosphorylation deficiency 7.
HP:0000648HP:0000648Optic atrophy0MTRFR CL E G H9157426784OMIM:615035Spastic paraplegia 55, autosomal recessive.
HP:0000648HP:0000648Optic atrophy0MTSS2 CL E G H9215425094OMIM:620086
HP:0000648HP:0000648Optic atrophy0MYO5A CL E G H46447602ORPHA:33445Neuroectodermal melanolysosomal diseaseHP:0040283 - Occasional35
HP:0000648HP:0000648Optic atrophy0NAGA CL E G H46687631ORPHA:79279Alpha-N-acetylgalactosaminidase deficiency type 1HP:0040282 - Frequent47
HP:0000648HP:0000648Optic atrophy0NAGA CL E G H46687631OMIM:609241Schindler disease, type I.47
HP:0000648HP:0000648Optic atrophy0NALCN CL E G H25923219082OMIM:615419Hypotonia, infantile, with psychomotor retardation and characteristic facies 1.48
HP:0000648HP:0000648Optic atrophy0NARS2 CL E G H7973126274OMIM:616239Combined oxidative phosphorylation deficiency 24.34
HP:0000648HP:0000648Optic atrophy0NBAS CL E G H5159415625OMIM:614800Short stature, optic nerve atrophy, and pelger-huet anomaly.25
HP:0000648HP:0000648Optic atrophy0ND1 CL E G H45357455ORPHA:104Leber hereditary optic neuropathyHP:0040282 - Frequent
HP:0000648HP:0000648Optic atrophy0ND1 CL E G H45357455OMIM:535000Leber optic atrophy.
HP:0000648HP:0000648Optic atrophy0ND1 CL E G H45357455ORPHA:550MELASHP:0040283 - Occasional
HP:0000648HP:0000648Optic atrophy0ND1 CL E G H45357455ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040283 - Occasional
HP:0000648HP:0000648Optic atrophy0ND2 CL E G H45367456ORPHA:104Leber hereditary optic neuropathyHP:0040282 - Frequent
HP:0000648HP:0000648Optic atrophy0ND2 CL E G H45367456OMIM:535000Leber optic atrophy.
HP:0000648HP:0000648Optic atrophy0ND2 CL E G H45367456ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040283 - Occasional
HP:0000648HP:0000648Optic atrophy0ND3 CL E G H45377458ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040283 - Occasional
HP:0000648HP:0000648Optic atrophy0ND4 CL E G H45387459ORPHA:104Leber hereditary optic neuropathyHP:0040282 - Frequent
HP:0000648HP:0000648Optic atrophy0ND4 CL E G H45387459OMIM:535000Leber optic atrophy.
HP:0000648HP:0000648Optic atrophy0ND4 CL E G H45387459ORPHA:550MELASHP:0040283 - Occasional
HP:0000648HP:0000648Optic atrophy0ND4 CL E G H45387459ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040283 - Occasional
HP:0000648HP:0000648Optic atrophy0ND4L CL E G H45397460ORPHA:104Leber hereditary optic neuropathyHP:0040282 - Frequent
HP:0000648HP:0000648Optic atrophy0ND4L CL E G H45397460OMIM:535000Leber optic atrophy.
HP:0000648HP:0000648Optic atrophy0ND5 CL E G H45407461ORPHA:104Leber hereditary optic neuropathyHP:0040282 - Frequent
HP:0000648HP:0000648Optic atrophy0ND5 CL E G H45407461OMIM:535000Leber optic atrophy.
HP:0000648HP:0000648Optic atrophy0ND5 CL E G H45407461ORPHA:550MELASHP:0040283 - Occasional
HP:0000648HP:0000648Optic atrophy0ND5 CL E G H45407461ORPHA:551MERRFHP:0040282 - Frequent
HP:0000648HP:0000648Optic atrophy0ND5 CL E G H45407461ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040283 - Occasional
HP:0000648HP:0000648Optic atrophy0ND6 CL E G H45417462ORPHA:104Leber hereditary optic neuropathyHP:0040282 - Frequent
HP:0000648HP:0000648Optic atrophy0ND6 CL E G H45417462OMIM:535000Leber optic atrophy.
HP:0000648HP:0000648Optic atrophy0ND6 CL E G H45417462ORPHA:550MELASHP:0040283 - Occasional
HP:0000648HP:0000648Optic atrophy0ND6 CL E G H45417462ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040283 - Occasional
HP:0000648HP:0000648Optic atrophy0NDP CL E G H46937678OMIM:310600Norrie disease.39
HP:0000648HP:0000648Optic atrophy0NDP CL E G H46937678ORPHA:649Norrie diseaseHP:0040283 - Occasional39
HP:0000648HP:0000648Optic atrophy0NDUFA10 CL E G H47057684ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent91
HP:0000648HP:0000648Optic atrophy0NDUFA11 CL E G H12632820371OMIM:618236Mitochondrial complex I deficiency, nuclear type 14.32
HP:0000648HP:0000648Optic atrophy0NDUFA12 CL E G H5596723987ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent7
HP:0000648HP:0000648Optic atrophy0NDUFA13 CL E G H5107917194ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent3
HP:0000648HP:0000648Optic atrophy0NDUFA13 CL E G H5107917194OMIM:618249Mitochondrial complex I deficiency, nuclear type 28.3
HP:0000648HP:0000648Optic atrophy0NDUFA2 CL E G H46957685ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent19
HP:0000648HP:0000648Optic atrophy0NDUFA4 CL E G H46977687ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent4
HP:0000648HP:0000648Optic atrophy0NDUFA6 CL E G H47007690OMIM:618253Mitochondrial complex I deficiency, nuclear type 33HP:0040284 - Very rare1
HP:0000648HP:0000648Optic atrophy0NDUFA9 CL E G H47047693ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent27
HP:0000648HP:0000648Optic atrophy0NDUFAF2 CL E G H9194228086ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent26
HP:0000648HP:0000648Optic atrophy0NDUFAF2 CL E G H9194228086OMIM:618233Mitochondrial complex I deficiency, nuclear type 10HP:0040284 - Very rare26
HP:0000648HP:0000648Optic atrophy0NDUFAF3 CL E G H2591529918ORPHA:70474Leigh syndrome with cardiomyopathyHP:0040283 - Occasional31
HP:0000648HP:0000648Optic atrophy0NDUFAF4 CL E G H2907821034OMIM:618237Mitochondrial complex I deficiency, nuclear type 15.50
HP:0000648HP:0000648Optic atrophy0NDUFAF5 CL E G H7913315899ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent34
HP:0000648HP:0000648Optic atrophy0NDUFAF5 CL E G H7913315899OMIM:618238Mitochondrial complex I deficiency, nuclear type 16HP:0040284 - Very rare34
HP:0000648HP:0000648Optic atrophy0NDUFAF6 CL E G H13768228625ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent39
HP:0000648HP:0000648Optic atrophy0NDUFAF8 CL E G H28418433551OMIM:618776MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 34; MC1DN34
HP:0000648HP:0000648Optic atrophy0NDUFB8 CL E G H47147703ORPHA:70474Leigh syndrome with cardiomyopathyHP:0040283 - Occasional
HP:0000648HP:0000648Optic atrophy0NDUFS1 CL E G H47197707ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent81
HP:0000648HP:0000648Optic atrophy0NDUFS1 CL E G H47197707OMIM:618226Mitochondrial complex I deficiency, nuclear type 5.81
HP:0000648HP:0000648Optic atrophy0NDUFS2 CL E G H47207708ORPHA:104Leber hereditary optic neuropathyHP:0040282 - Frequent65
HP:0000648HP:0000648Optic atrophy0NDUFS2 CL E G H47207708ORPHA:70474Leigh syndrome with cardiomyopathyHP:0040283 - Occasional65
HP:0000648HP:0000648Optic atrophy0NDUFS2 CL E G H47207708ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent65
HP:0000648HP:0000648Optic atrophy0NDUFS2 CL E G H47207708OMIM:618228Mitochondrial complex I deficiency, nuclear type 6.65
HP:0000648HP:0000648Optic atrophy0NDUFS3 CL E G H47227710ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent22
HP:0000648HP:0000648Optic atrophy0NDUFS4 CL E G H47247711ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent27
HP:0000648HP:0000648Optic atrophy0NDUFS7 CL E G H3742917714ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent38
HP:0000648HP:0000648Optic atrophy0NDUFS8 CL E G H47287715ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent42
HP:0000648HP:0000648Optic atrophy0NDUFV1 CL E G H47237716ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent74
HP:0000648HP:0000648Optic atrophy0NDUFV2 CL E G H47297717ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent27
HP:0000648HP:0000648Optic atrophy0NDUFV2 CL E G H47297717OMIM:618229Mitochondrial complex I deficiency, nuclear type 7.27
HP:0000648HP:0000648Optic atrophy0NECAP1 CL E G H2597724539ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040284 - Very rare1
HP:0000648HP:0000648Optic atrophy0NEDD4L CL E G H233277728OMIM:617201Periventricular nodular heterotopia 7HP:0040283 - Occasional30
HP:0000648HP:0000648Optic atrophy0NEK2 CL E G H47517745ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent5
HP:0000648HP:0000648Optic atrophy0NELFA CL E G H746912768ORPHA:280Wolf-Hirschhorn syndromeHP:0040282 - Frequent
HP:0000648HP:0000648Optic atrophy0NEU1 CL E G H47587758ORPHA:93400Congenital sialidosis type 2HP:0040283 - Occasional43
HP:0000648HP:0000648Optic atrophy0NEU1 CL E G H47587758ORPHA:93399Juvenile sialidosis type 2HP:0040283 - Occasional43
HP:0000648HP:0000648Optic atrophy0NFIX CL E G H47847788ORPHA:561Marshall-Smith syndromeHP:0040283 - Occasional40
HP:0000648HP:0000648Optic atrophy0NGLY1 CL E G H5576817646ORPHA:404454Alacrimia-choreoathetosis-liver dysfunction syndromeHP:0040284 - Very rare32
HP:0000648HP:0000648Optic atrophy0NIPBL CL E G H2583628862OMIM:122470Cornelia de Lange syndrome 1.494
HP:0000648HP:0000648Optic atrophy0NLRP3 CL E G H11454816400ORPHA:575Muckle-Wells syndromeHP:0040283 - Occasional217
HP:0000648HP:0000648Optic atrophy0NMNAT1 CL E G H6480217877OMIM:608553Leber congenital amaurosis 9.15
HP:0000648HP:0000648Optic atrophy0NOTCH2NLC CL E G H10099671753924ORPHA:2289Neuronal intranuclear inclusion diseaseHP:0040283 - Occasional
HP:0000648HP:0000648Optic atrophy0NR2E3 CL E G H100027974ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent58
HP:0000648HP:0000648Optic atrophy0NR2F1 CL E G H70257975OMIM:615722Bosch-Boonstra-Schaaf optic atrophy syndrome.37
HP:0000648HP:0000648Optic atrophy0NR2F1 CL E G H70257975ORPHA:401777Optic atrophy-intellectual disability syndromeHP:0040282 - Frequent37
HP:0000648HP:0000648Optic atrophy0NRCAM CL E G H48977994OMIM:6198332
HP:0000648HP:0000648Optic atrophy0NRL CL E G H49018002ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent30
HP:0000648HP:0000648Optic atrophy0NSD2 CL E G H746812766ORPHA:280Wolf-Hirschhorn syndromeHP:0040282 - Frequent118
HP:0000648HP:0000648Optic atrophy0NT5C2 CL E G H229788022ORPHA:320396Autosomal recessive spastic paraplegia type 45HP:0040283 - Occasional15
HP:0000648HP:0000648Optic atrophy0NT5C2 CL E G H229788022OMIM:613162Spastic paraplegia 45, autosomal recessive.15
HP:0000648HP:0000648Optic atrophy0NTRK2 CL E G H49158032OMIM:617830EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 58; EIEE588
HP:0000648HP:0000648Optic atrophy0NTRK2 CL E G H49158032ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040284 - Very rare8
HP:0000648HP:0000648Optic atrophy0NUP62 CL E G H236368066ORPHA:225154Familial infantile bilateral striatal necrosisHP:0040282 - Frequent7
HP:0000648HP:0000648Optic atrophy0NUP62 CL E G H236368066OMIM:271930Striatonigral degeneration, infantile.7
HP:0000648HP:0000648Optic atrophy0NUS1 CL E G H11615021042ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040284 - Very rare1
HP:0000648HP:0000648Optic atrophy0OFD1 CL E G H84812567ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent201
HP:0000648HP:0000648Optic atrophy0OGDHL CL E G H5575325590OMIM:619701YOON-BELLEN NEURODEVELOPMENTAL SYNDROME; YOBELN3
HP:0000648HP:0000648Optic atrophy0OPA1 CL E G H49768140ORPHA:1215Autosomal dominant optic atrophy plus syndromeHP:0040281 - Very frequent214
HP:0000648HP:0000648Optic atrophy0OPA1 CL E G H49768140ORPHA:98673Autosomal dominant optic atrophy, classic formHP:0040281 - Very frequent214
HP:0000648HP:0000648Optic atrophy0OPA1 CL E G H49768140OMIM:210000Behr syndrome.214
HP:0000648HP:0000648Optic atrophy0OPA1 CL E G H49768140OMIM:165500Optic atrophy 1.214
HP:0000648HP:0000648Optic atrophy0OPA1 CL E G H49768140OMIM:125250Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy.214
HP:0000648HP:0000648Optic atrophy0OPA3 CL E G H802078142OMIM:2585013-methylglutaconic aciduria, type III163
HP:0000648HP:0000648Optic atrophy0OPA3 CL E G H802078142ORPHA:67036Autosomal dominant optic atrophy and cataractHP:0040281 - Very frequent163
HP:0000648HP:0000648Optic atrophy0OPA3 CL E G H802078142OMIM:165300OPTIC ATROPHY 3, AUTOSOMAL DOMINANT; OPA3163
HP:0000648HP:0000648Optic atrophy0OSTM1 CL E G H2896221652OMIM:259720Osteopetrosis, autosomal recessive 5.73
HP:0000648HP:0000648Optic atrophy0P4HA2 CL E G H89748547ORPHA:397Giant cell arteritisHP:0040283 - Occasional3
HP:0000648HP:0000648Optic atrophy0P4HTM CL E G H5468128858OMIM:618493Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities.
HP:0000648HP:0000648Optic atrophy0PANK2 CL E G H8002515894ORPHA:216873Atypical pantothenate kinase-associated neurodegenerationHP:0040284 - Very rare55
HP:0000648HP:0000648Optic atrophy0PANK2 CL E G H8002515894OMIM:234200Neurodegeneration with brain iron accumulation 1.55
HP:0000648HP:0000648Optic atrophy0PARS2 CL E G H2597330563OMIM:618437Epileptic encephalopathy, early infantile, 75.14
HP:0000648HP:0000648Optic atrophy0PARS2 CL E G H2597330563ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040284 - Very rare14
HP:0000648HP:0000648Optic atrophy0PAX6 CL E G H50808620ORPHA:2253Foveal hypoplasia-presenile cataract syndromeHP:0040281 - Very frequent194
HP:0000648HP:0000648Optic atrophy0PCARE CL E G H38893934383ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent
HP:0000648HP:0000648Optic atrophy0PCK1 CL E G H51058724OMIM:261680Phosphoenolpyruvate carboxykinase deficiency, cytosolic.53
HP:0000648HP:0000648Optic atrophy0PCLO CL E G H2744513406OMIM:608027Pontocerebellar hypoplasia, type 3.6
HP:0000648HP:0000648Optic atrophy0PCYT2 CL E G H58338756OMIM:618770SPASTIC PARAPLEGIA 82, AUTOSOMAL RECESSIVE; SPG82
HP:0000648HP:0000648Optic atrophy0PDE6A CL E G H51458785ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent116
HP:0000648HP:0000648Optic atrophy0PDE6B CL E G H51588786ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent126
HP:0000648HP:0000648Optic atrophy0PDE6G CL E G H51488789ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent18
HP:0000648HP:0000648Optic atrophy0PDHA1 CL E G H51608806ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent88
HP:0000648HP:0000648Optic atrophy0PDHX CL E G H805021350OMIM:245349Pyruvate dehydrogenase e3-binding protein deficiency.98
HP:0000648HP:0000648Optic atrophy0PDPN CL E G H1063029602ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional
HP:0000648HP:0000648Optic atrophy0PDSS1 CL E G H2359017759OMIM:614651Coenzyme Q10 deficiency, primary, 2.40
HP:0000648HP:0000648Optic atrophy0PET100 CL E G H10013180140038ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent6
HP:0000648HP:0000648Optic atrophy0PEX1 CL E G H51898850ORPHA:772Infantile Refsum diseaseHP:0040283 - Occasional169
HP:0000648HP:0000648Optic atrophy0PEX1 CL E G H51898850ORPHA:44Neonatal adrenoleukodystrophyHP:0040281 - Very frequent169
HP:0000648HP:0000648Optic atrophy0PEX1 CL E G H51898850OMIM:601539Peroxisome biogenesis disorder 1B.169
HP:0000648HP:0000648Optic atrophy0PEX1 CL E G H51898850ORPHA:912Zellweger syndromeHP:0040282 - Frequent169
HP:0000648HP:0000648Optic atrophy0PEX10 CL E G H51928851ORPHA:772Infantile Refsum diseaseHP:0040283 - Occasional75
HP:0000648HP:0000648Optic atrophy0PEX10 CL E G H51928851ORPHA:44Neonatal adrenoleukodystrophyHP:0040281 - Very frequent75
HP:0000648HP:0000648Optic atrophy0PEX10 CL E G H51928851ORPHA:912Zellweger syndromeHP:0040282 - Frequent75
HP:0000648HP:0000648Optic atrophy0PEX11B CL E G H87998853ORPHA:772Infantile Refsum diseaseHP:0040283 - Occasional4
HP:0000648HP:0000648Optic atrophy0PEX11B CL E G H87998853ORPHA:44Neonatal adrenoleukodystrophyHP:0040281 - Very frequent4
HP:0000648HP:0000648Optic atrophy0PEX11B CL E G H87998853ORPHA:912Zellweger syndromeHP:0040282 - Frequent4
HP:0000648HP:0000648Optic atrophy0PEX12 CL E G H51938854ORPHA:772Infantile Refsum diseaseHP:0040283 - Occasional65
HP:0000648HP:0000648Optic atrophy0PEX12 CL E G H51938854ORPHA:44Neonatal adrenoleukodystrophyHP:0040281 - Very frequent65
HP:0000648HP:0000648Optic atrophy0PEX12 CL E G H51938854ORPHA:912Zellweger syndromeHP:0040282 - Frequent65
HP:0000648HP:0000648Optic atrophy0PEX13 CL E G H51948855ORPHA:772Infantile Refsum diseaseHP:0040283 - Occasional66
HP:0000648HP:0000648Optic atrophy0PEX13 CL E G H51948855ORPHA:44Neonatal adrenoleukodystrophyHP:0040281 - Very frequent66
HP:0000648HP:0000648Optic atrophy0PEX13 CL E G H51948855ORPHA:912Zellweger syndromeHP:0040282 - Frequent66
HP:0000648HP:0000648Optic atrophy0PEX14 CL E G H51958856ORPHA:772Infantile Refsum diseaseHP:0040283 - Occasional46
HP:0000648HP:0000648Optic atrophy0PEX14 CL E G H51958856ORPHA:44Neonatal adrenoleukodystrophyHP:0040281 - Very frequent46
HP:0000648HP:0000648Optic atrophy0PEX14 CL E G H51958856ORPHA:912Zellweger syndromeHP:0040282 - Frequent46
HP:0000648HP:0000648Optic atrophy0PEX16 CL E G H94098857ORPHA:772Infantile Refsum diseaseHP:0040283 - Occasional59
HP:0000648HP:0000648Optic atrophy0PEX16 CL E G H94098857ORPHA:44Neonatal adrenoleukodystrophyHP:0040281 - Very frequent59
HP:0000648HP:0000648Optic atrophy0PEX16 CL E G H94098857OMIM:614877Peroxisome biogenesis disorder 8B.59
HP:0000648HP:0000648Optic atrophy0PEX16 CL E G H94098857ORPHA:912Zellweger syndromeHP:0040282 - Frequent59
HP:0000648HP:0000648Optic atrophy0PEX19 CL E G H58249713ORPHA:772Infantile Refsum diseaseHP:0040283 - Occasional62
HP:0000648HP:0000648Optic atrophy0PEX19 CL E G H58249713ORPHA:44Neonatal adrenoleukodystrophyHP:0040281 - Very frequent62
HP:0000648HP:0000648Optic atrophy0PEX19 CL E G H58249713ORPHA:912Zellweger syndromeHP:0040282 - Frequent62
HP:0000648HP:0000648Optic atrophy0PEX2 CL E G H58289717ORPHA:772Infantile Refsum diseaseHP:0040283 - Occasional82
HP:0000648HP:0000648Optic atrophy0PEX2 CL E G H58289717ORPHA:44Neonatal adrenoleukodystrophyHP:0040281 - Very frequent82
HP:0000648HP:0000648Optic atrophy0PEX2 CL E G H58289717ORPHA:912Zellweger syndromeHP:0040282 - Frequent82
HP:0000648HP:0000648Optic atrophy0PEX26 CL E G H5567022965ORPHA:772Infantile Refsum diseaseHP:0040283 - Occasional106
HP:0000648HP:0000648Optic atrophy0PEX26 CL E G H5567022965ORPHA:44Neonatal adrenoleukodystrophyHP:0040281 - Very frequent106
HP:0000648HP:0000648Optic atrophy0PEX26 CL E G H5567022965ORPHA:912Zellweger syndromeHP:0040282 - Frequent106
HP:0000648HP:0000648Optic atrophy0PEX3 CL E G H85048858ORPHA:772Infantile Refsum diseaseHP:0040283 - Occasional47
HP:0000648HP:0000648Optic atrophy0PEX3 CL E G H85048858ORPHA:44Neonatal adrenoleukodystrophyHP:0040281 - Very frequent47
HP:0000648HP:0000648Optic atrophy0PEX3 CL E G H85048858ORPHA:912Zellweger syndromeHP:0040282 - Frequent47
HP:0000648HP:0000648Optic atrophy0PEX5 CL E G H58309719ORPHA:772Infantile Refsum diseaseHP:0040283 - Occasional99
HP:0000648HP:0000648Optic atrophy0PEX5 CL E G H58309719ORPHA:44Neonatal adrenoleukodystrophyHP:0040281 - Very frequent99
HP:0000648HP:0000648Optic atrophy0PEX5 CL E G H58309719ORPHA:912Zellweger syndromeHP:0040282 - Frequent99
HP:0000648HP:0000648Optic atrophy0PEX6 CL E G H51908859ORPHA:95433Autosomal recessive spinocerebellar ataxia-blindness-deafness syndromeHP:0040282 - Frequent98
HP:0000648HP:0000648Optic atrophy0PEX6 CL E G H51908859ORPHA:772Infantile Refsum diseaseHP:0040283 - Occasional98
HP:0000648HP:0000648Optic atrophy0PEX6 CL E G H51908859ORPHA:44Neonatal adrenoleukodystrophyHP:0040281 - Very frequent98
HP:0000648HP:0000648Optic atrophy0PEX6 CL E G H51908859OMIM:614863Peroxisome biogenesis disorder 4B.98
HP:0000648HP:0000648Optic atrophy0PEX6 CL E G H51908859ORPHA:912Zellweger syndromeHP:0040282 - Frequent98
HP:0000648HP:0000648Optic atrophy0PI4KA CL E G H52978983OMIM:619708GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID211
HP:0000648HP:0000648Optic atrophy0PIEZO2 CL E G H6389526270ORPHA:1154Arthrogryposis-oculomotor limitation-electroretinal anomalies syndromeHP:0040282 - Frequent77
HP:0000648HP:0000648Optic atrophy0PIGG CL E G H5487225985ORPHA:280Wolf-Hirschhorn syndromeHP:0040282 - Frequent7
HP:0000648HP:0000648Optic atrophy0PIGU CL E G H12886915791OMIM:618590NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS; NEDBSS
HP:0000648HP:0000648Optic atrophy0PIK3CA CL E G H52908975ORPHA:99802HemimegalencephalyHP:0040283 - Occasional162
HP:0000648HP:0000648Optic atrophy0PIK3CA CL E G H52908975ORPHA:60040Megalencephaly-capillary malformation-polymicrogyria syndromeHP:0040283 - Occasional162
HP:0000648HP:0000648Optic atrophy0PIK3CD CL E G H52938977OMIM:613328Roifman-Chitayat syndrome.9
HP:0000648HP:0000648Optic atrophy0PLA2G6 CL E G H83989039ORPHA:35069Infantile neuroaxonal dystrophyHP:0040282 - Frequent133
HP:0000648HP:0000648Optic atrophy0PLA2G6 CL E G H83989039OMIM:256600Neurodegeneration with brain iron accumulation 2A.133
HP:0000648HP:0000648Optic atrophy0PLA2G6 CL E G H83989039OMIM:610217Neurodegeneration with brain iron accumulation 2B.133
HP:0000648HP:0000648Optic atrophy0PLAA CL E G H93739043OMIM:617527Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies3
HP:0000648HP:0000648Optic atrophy0PLAA CL E G H93739043ORPHA:521426PLAA-associated neurodevelopmental disorderHP:0040282 - Frequent3
HP:0000648HP:0000648Optic atrophy0PLEKHM1 CL E G H984229017ORPHA:210110Intermediate osteopetrosis2
HP:0000648HP:0000648Optic atrophy0PLK4 CL E G H1073311397ORPHA:2518Autosomal recessive chorioretinopathy-microcephaly syndromeHP:0040282 - Frequent11
HP:0000648HP:0000648Optic atrophy0PLK4 CL E G H1073311397OMIM:616171Microcephaly and chorioretinopathy, autosomal recessive, 2HP:0040283 - Occasional11
HP:0000648HP:0000648Optic atrophy0PLP1 CL E G H53549086ORPHA:280234Null syndromeHP:0040283 - Occasional60
HP:0000648HP:0000648Optic atrophy0PLP1 CL E G H53549086OMIM:312080Pelizaeus-Merzbacher disease60
HP:0000648HP:0000648Optic atrophy0PLP1 CL E G H53549086OMIM:312920Spastic paraplegia 2, X-linked.60
HP:0000648HP:0000648Optic atrophy0PLP1 CL E G H53549086ORPHA:99015Spastic paraplegia type 2HP:0040282 - Frequent60
HP:0000648HP:0000648Optic atrophy0PNPLA6 CL E G H1090816268ORPHA:1173Cerebellar ataxia-hypogonadism syndromeHP:0040281 - Very frequent103
HP:0000648HP:0000648Optic atrophy0POGZ CL E G H2312618801ORPHA:468678White-Sutton syndromeHP:0040284 - Very rare35
HP:0000648HP:0000648Optic atrophy0POLG CL E G H54289179ORPHA:254886Autosomal recessive progressive external ophthalmoplegiaHP:0040283 - Occasional464
HP:0000648HP:0000648Optic atrophy0POLG CL E G H54289179OMIM:258450Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessiveHP:0040283 - Occasional464
HP:0000648HP:0000648Optic atrophy0POLG2 CL E G H112329180OMIM:619425MITOCHONDRIAL DNA DEPLETION SYNDROME 16B (NEUROOPHTHALMIC TYPE); MTDPS16B45
HP:0000648HP:0000648Optic atrophy0POLR3A CL E G H1112830074OMIM:607694Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadismHP:0040283 - Occasional138
HP:0000648HP:0000648Optic atrophy0POLR3A CL E G H1112830074ORPHA:447896Tremor-ataxia-central hypomyelination syndromeHP:0040283 - Occasional138
HP:0000648HP:0000648Optic atrophy0POLR3A CL E G H1112830074ORPHA:3455Wiedemann-Rautenstrauch syndromeHP:0040283 - Occasional138
HP:0000648HP:0000648Optic atrophy0POLR3B CL E G H5570330348OMIM:607694Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadismHP:0040283 - Occasional67
HP:0000648HP:0000648Optic atrophy0POLR3B CL E G H5570330348OMIM:614381Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism67
HP:0000648HP:0000648Optic atrophy0POLR3K CL E G H5172814121OMIM:619310LEUKODYSTROPHY, HYPOMYELINATING, 21; HLD21
HP:0000648HP:0000648Optic atrophy0POMGNT1 CL E G H5562419139ORPHA:370959Congenital muscular dystrophy with cerebellar involvementHP:0040283 - Occasional180
HP:0000648HP:0000648Optic atrophy0POMGNT1 CL E G H5562419139ORPHA:588Muscle-eye-brain diseaseHP:0040281 - Very frequent180
HP:0000648HP:0000648Optic atrophy0POMGNT1 CL E G H5562419139OMIM:253280Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3.180
HP:0000648HP:0000648Optic atrophy0POMGNT1 CL E G H5562419139OMIM:613151Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3.180
HP:0000648HP:0000648Optic atrophy0POMGNT1 CL E G H5562419139ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent180
HP:0000648HP:0000648Optic atrophy0POMGNT1 CL E G H5562419139ORPHA:899Walker-Warburg syndromeHP:0040281 - Very frequent180
HP:0000648HP:0000648Optic atrophy0POMGNT2 CL E G H8489225902ORPHA:899Walker-Warburg syndromeHP:0040281 - Very frequent33
HP:0000648HP:0000648Optic atrophy0POMK CL E G H8419726267ORPHA:370959Congenital muscular dystrophy with cerebellar involvementHP:0040283 - Occasional18
HP:0000648HP:0000648Optic atrophy0POMK CL E G H8419726267ORPHA:899Walker-Warburg syndromeHP:0040281 - Very frequent18
HP:0000648HP:0000648Optic atrophy0POMT1 CL E G H105859202ORPHA:370959Congenital muscular dystrophy with cerebellar involvementHP:0040283 - Occasional213
HP:0000648HP:0000648Optic atrophy0POMT1 CL E G H105859202ORPHA:588Muscle-eye-brain diseaseHP:0040281 - Very frequent213
HP:0000648HP:0000648Optic atrophy0POMT1 CL E G H105859202OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1213
HP:0000648HP:0000648Optic atrophy0POMT1 CL E G H105859202ORPHA:899Walker-Warburg syndromeHP:0040281 - Very frequent213
HP:0000648HP:0000648Optic atrophy0POMT2 CL E G H2995419743ORPHA:370959Congenital muscular dystrophy with cerebellar involvementHP:0040283 - Occasional221
HP:0000648HP:0000648Optic atrophy0POMT2 CL E G H2995419743ORPHA:588Muscle-eye-brain diseaseHP:0040281 - Very frequent221
HP:0000648HP:0000648Optic atrophy0POMT2 CL E G H2995419743OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1221
HP:0000648HP:0000648Optic atrophy0POMT2 CL E G H2995419743ORPHA:899Walker-Warburg syndromeHP:0040281 - Very frequent221
HP:0000648HP:0000648Optic atrophy0PORCN CL E G H6484017652OMIM:305600Focal dermal hypoplasia.20
HP:0000648HP:0000648Optic atrophy0POU3F4 CL E G H54569217ORPHA:1435Xq21 microdeletion syndromeHP:0040282 - Frequent40
HP:0000648HP:0000648Optic atrophy0PPP1R21 CL E G H12928530595OMIM:619383NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0000648HP:0000648Optic atrophy0PPP3CA CL E G H55309314ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040284 - Very rare2
HP:0000648HP:0000648Optic atrophy0PPT1 CL E G H55389325OMIM:256730Ceroid lipofuscinosis, neuronal, 1.172
HP:0000648HP:0000648Optic atrophy0PRCD CL E G H76820632528ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent39
HP:0000648HP:0000648Optic atrophy0PRDM16 CL E G H6397614000ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional148
HP:0000648HP:0000648Optic atrophy0PRICKLE3 CL E G H40076645OMIM:308905Leber optic atrophy, susceptibility to.1
HP:0000648HP:0000648Optic atrophy0PRKAR1A CL E G H55739388OMIM:101800Acrodysostosis 1, with or without hormone resistance.134
HP:0000648HP:0000648Optic atrophy0PRKCZ CL E G H55909412ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional
HP:0000648HP:0000648Optic atrophy0PROM1 CL E G H88429454ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent110
HP:0000648HP:0000648Optic atrophy0PRPF3 CL E G H912917348ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent28
HP:0000648HP:0000648Optic atrophy0PRPF31 CL E G H2612115446ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent70
HP:0000648HP:0000648Optic atrophy0PRPF4 CL E G H912817349ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent2
HP:0000648HP:0000648Optic atrophy0PRPF6 CL E G H2414815860ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent51
HP:0000648HP:0000648Optic atrophy0PRPF8 CL E G H1059417340ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent94
HP:0000648HP:0000648Optic atrophy0PRPH2 CL E G H59619942ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent159
HP:0000648HP:0000648Optic atrophy0PRPS1 CL E G H56319462OMIM:301835Arts syndrome.49
HP:0000648HP:0000648Optic atrophy0PRPS1 CL E G H56319462OMIM:311070Charcot-Marie-Tooth disease, X-linked recessive, 5.49
HP:0000648HP:0000648Optic atrophy0PRPS1 CL E G H56319462ORPHA:1187Lethal ataxia with deafness and optic atrophyHP:0040281 - Very frequent49
HP:0000648HP:0000648Optic atrophy0PRPS1 CL E G H56319462ORPHA:99014X-linked Charcot-Marie-Tooth disease type 5HP:0040281 - Very frequent49
HP:0000648HP:0000648Optic atrophy0PRUNE1 CL E G H5849713420OMIM:617481Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomaliesHP:0040284 - Very rare8
HP:0000648HP:0000648Optic atrophy0PRUNE1 CL E G H5849713420ORPHA:544469PRUNE1-related neurological syndrome8
HP:0000648HP:0000648Optic atrophy0PSAP CL E G H56609498OMIM:611721Combined saposin deficiencyHP:0040283 - Occasional81
HP:0000648HP:0000648Optic atrophy0PSAP CL E G H56609498ORPHA:206436Infantile Krabbe diseaseHP:0040283 - Occasional81
HP:0000648HP:0000648Optic atrophy0PSAP CL E G H56609498ORPHA:309271Metachromatic leukodystrophy, adult formHP:0040282 - Frequent81
HP:0000648HP:0000648Optic atrophy0PSAP CL E G H56609498ORPHA:309263Metachromatic leukodystrophy, juvenile formHP:0040282 - Frequent81
HP:0000648HP:0000648Optic atrophy0PSAP CL E G H56609498ORPHA:309256Metachromatic leukodystrophy, late infantile formHP:0040282 - Frequent81
HP:0000648HP:0000648Optic atrophy0PTCD3 CL E G H5503724717OMIM:619057COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 51; COXPD51
HP:0000648HP:0000648Optic atrophy0PTPN22 CL E G H261919652ORPHA:397Giant cell arteritisHP:0040283 - Occasional3
HP:0000648HP:0000648Optic atrophy0RAB11B CL E G H92309761OMIM:617807Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter.
HP:0000648HP:0000648Optic atrophy0RAB18 CL E G H2293114244ORPHA:2510Micro syndromeHP:0040281 - Very frequent85
HP:0000648HP:0000648Optic atrophy0RAB18 CL E G H2293114244OMIM:614222Warburg micro syndrome 3.85
HP:0000648HP:0000648Optic atrophy0RAB23 CL E G H5171514263OMIM:201000Carpenter syndrome 131
HP:0000648HP:0000648Optic atrophy0RAB3GAP1 CL E G H2293017063ORPHA:2510Micro syndromeHP:0040281 - Very frequent90
HP:0000648HP:0000648Optic atrophy0RAB3GAP1 CL E G H2293017063OMIM:600118Warburg micro syndrome 190
HP:0000648HP:0000648Optic atrophy0RAB3GAP2 CL E G H2578217168ORPHA:2510Micro syndromeHP:0040281 - Very frequent135
HP:0000648HP:0000648Optic atrophy0RAB3GAP2 CL E G H2578217168OMIM:614225Warburg micro syndrome 2.135
HP:0000648HP:0000648Optic atrophy0RBL2 CL E G H59349894OMIM:619690BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME; BRUWAG
HP:0000648HP:0000648Optic atrophy0RBM10 CL E G H82419896OMIM:311900Tarp syndromeHP:0040283 - Occasional16
HP:0000648HP:0000648Optic atrophy0RBM10 CL E G H82419896ORPHA:2886TARP syndromeHP:0040284 - Very rare16
HP:0000648HP:0000648Optic atrophy0RBP3 CL E G H59499921ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent108
HP:0000648HP:0000648Optic atrophy0RDH12 CL E G H14522619977ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent45
HP:0000648HP:0000648Optic atrophy0RECQL4 CL E G H94019949OMIM:218600Baller-Gerold syndrome.445
HP:0000648HP:0000648Optic atrophy0REEP6 CL E G H9284030078ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent5
HP:0000648HP:0000648Optic atrophy0RERE CL E G H4739965ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional16
HP:0000648HP:0000648Optic atrophy0RERE CL E G H4739965OMIM:616975Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart16
HP:0000648HP:0000648Optic atrophy0RERE CL E G H4739965ORPHA:494344RERE-related neurodevelopmental syndromeHP:0040283 - Occasional16
HP:0000648HP:0000648Optic atrophy0RFC1 CL E G H59819969ORPHA:504476Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndromeHP:0040282 - Frequent
HP:0000648HP:0000648Optic atrophy0RGR CL E G H59959990ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent28
HP:0000648HP:0000648Optic atrophy0RHO CL E G H601010012ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent107
HP:0000648HP:0000648Optic atrophy0RHOA CL E G H387667OMIM:618727ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES; EDFAOB8
HP:0000648HP:0000648Optic atrophy0RLBP1 CL E G H601710024ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent47
HP:0000648HP:0000648Optic atrophy0RNF170 CL E G H8179025358OMIM:619686SPASTIC PARAPLEGIA 85, AUTOSOMAL RECESSIVE; SPG853
HP:0000648HP:0000648Optic atrophy0RNF216 CL E G H5447621698ORPHA:1173Cerebellar ataxia-hypogonadism syndromeHP:0040281 - Very frequent10
HP:0000648HP:0000648Optic atrophy0RNR1 CL E G H45497470ORPHA:551MERRFHP:0040282 - Frequent
HP:0000648HP:0000648Optic atrophy0RNU7-1 CL E G H10014774434033OMIM:619487AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0000648HP:0000648Optic atrophy0ROM1 CL E G H609410254ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent38
HP:0000648HP:0000648Optic atrophy0RP1 CL E G H610110263ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent111
HP:0000648HP:0000648Optic atrophy0RP1L1 CL E G H9413715946ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent284
HP:0000648HP:0000648Optic atrophy0RP2 CL E G H610210274ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent45
HP:0000648HP:0000648Optic atrophy0RP9 CL E G H610010288ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent14
HP:0000648HP:0000648Optic atrophy0RPE65 CL E G H612110294ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent129
HP:0000648HP:0000648Optic atrophy0RPGR CL E G H610310295ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent200
HP:0000648HP:0000648Optic atrophy0RPGRIP1 CL E G H5709613436ORPHA:564Meckel syndromeHP:0040282 - Frequent109
HP:0000648HP:0000648Optic atrophy0RPGRIP1L CL E G H2332229168ORPHA:564Meckel syndromeHP:0040282 - Frequent167
HP:0000648HP:0000648Optic atrophy0RPIA CL E G H2293410297OMIM:608611Ribose 5-phosphate isomerase deficiency.18
HP:0000648HP:0000648Optic atrophy0RPS6KA3 CL E G H619710432ORPHA:192Coffin-Lowry syndromeHP:0040283 - Occasional65
HP:0000648HP:0000648Optic atrophy0RREB1 CL E G H623910449ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional
HP:0000648HP:0000648Optic atrophy0RRM2B CL E G H5048417296OMIM:268315ROD-CONE DYSTROPHY, SENSORINEURAL DEAFNESS, AND FANCONI-TYPE RENAL DYSFUNCTION125
HP:0000648HP:0000648Optic atrophy0RSPO2 CL E G H34041928583ORPHA:3301Tetraamelia-multiple malformations syndromeHP:0040282 - Frequent
HP:0000648HP:0000648Optic atrophy0RXYLT1 CL E G H1032913530ORPHA:899Walker-Warburg syndromeHP:0040281 - Very frequent
HP:0000648HP:0000648Optic atrophy0SAG CL E G H629510521ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent32
HP:0000648HP:0000648Optic atrophy0SARDH CL E G H175710536ORPHA:3129SarcosinemiaHP:0040283 - Occasional4
HP:0000648HP:0000648Optic atrophy0SBF2 CL E G H818462135ORPHA:99956Charcot-Marie-Tooth disease type 4B2180
HP:0000648HP:0000648Optic atrophy0SCAPER CL E G H4985513081ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent
HP:0000648HP:0000648Optic atrophy0SCN3A CL E G H632810590ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040284 - Very rare70
HP:0000648HP:0000648Optic atrophy0SCN8A CL E G H633410596ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040284 - Very rare357
HP:0000648HP:0000648Optic atrophy0SCO2 CL E G H999710604ORPHA:70474Leigh syndrome with cardiomyopathyHP:0040283 - Occasional40
HP:0000648HP:0000648Optic atrophy0SCYL1 CL E G H5741014372ORPHA:466794Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndromeHP:0040284 - Very rare5
HP:0000648HP:0000648Optic atrophy0SCYL2 CL E G H5568119286OMIM:618766ARTHROGRYPOSIS MULTIPLEX CONGENITA 4, NEUROGENIC, WITH AGENESIS OF THE CORPUS CALLOSUM; AMC4
HP:0000648HP:0000648Optic atrophy0SDHA CL E G H638910680ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent304
HP:0000648HP:0000648Optic atrophy0SDHA CL E G H638910680OMIM:252011Mitochondrial complex II deficiency.304
HP:0000648HP:0000648Optic atrophy0SDHA CL E G H638910680OMIM:619259NEURODEGENERATION WITH ATAXIA AND LATE-ONSET OPTIC ATROPHY; NDAXOA304
HP:0000648HP:0000648Optic atrophy0SEC23A CL E G H1048410701OMIM:607812Craniolenticulosutural dysplasiaHP:0040283 - Occasional2
HP:0000648HP:0000648Optic atrophy0SEC24C CL E G H963210705ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional
HP:0000648HP:0000648Optic atrophy0SEC31A CL E G H2287217052OMIM:618651HALPERIN-BIRK SYNDROME; HLBKS
HP:0000648HP:0000648Optic atrophy0SELENOI CL E G H8546529361OMIM:618768SPASTIC PARAPLEGIA 81, AUTOSOMAL RECESSIVE; SPG81
HP:0000648HP:0000648Optic atrophy0SEMA3E CL E G H972310727ORPHA:138CHARGE syndromeHP:0040282 - Frequent16
HP:0000648HP:0000648Optic atrophy0SEMA4A CL E G H6421810729ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent48
HP:0000648HP:0000648Optic atrophy0SERAC1 CL E G H8494721061OMIM:6147393-Methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome.47
HP:0000648HP:0000648Optic atrophy0SH3BP2 CL E G H645210825ORPHA:184CherubismHP:0040283 - Occasional177
HP:0000648HP:0000648Optic atrophy0SH3TC2 CL E G H7962829427ORPHA:99949Charcot-Marie-Tooth disease type 4CHP:0040284 - Very rare493
HP:0000648HP:0000648Optic atrophy0SIL1 CL E G H6437424624ORPHA:559Marinesco-Sjögren syndromeHP:0040283 - Occasional67
HP:0000648HP:0000648Optic atrophy0SKI CL E G H649710896ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional150
HP:0000648HP:0000648Optic atrophy0SLC13A5 CL E G H28411123089ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040284 - Very rare73
HP:0000648HP:0000648Optic atrophy0SLC19A2 CL E G H1056010938OMIM:249270Thiamine-Responsive megaloblastic anemia syndrome.55
HP:0000648HP:0000648Optic atrophy0SLC19A2 CL E G H1056010938ORPHA:49827Thiamine-responsive megaloblastic anemia syndromeHP:0040282 - Frequent55
HP:0000648HP:0000648Optic atrophy0SLC19A3 CL E G H8070416266ORPHA:255241Leigh syndrome with leukodystrophyHP:0040282 - Frequent110
HP:0000648HP:0000648Optic atrophy0SLC1A2 CL E G H650610940ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040284 - Very rare3
HP:0000648HP:0000648Optic atrophy0SLC25A19 CL E G H6038614409ORPHA:99742Amish lethal microcephalyHP:0040281 - Very frequent36
HP:0000648HP:0000648Optic atrophy0SLC25A46 CL E G H9113725198OMIM:616505Neuropathy, hereditary motor and sensory, type VIB14
HP:0000648HP:0000648Optic atrophy0SLC25A46 CL E G H9113725198ORPHA:2254Pontocerebellar hypoplasia type 114
HP:0000648HP:0000648Optic atrophy0SLC25A46 CL E G H9113725198OMIM:619303PONTOCEREBELLAR HYPOPLASIA, TYPE 1E; PCH1E14
HP:0000648HP:0000648Optic atrophy0SLC29A3 CL E G H5531523096ORPHA:1782DysosteosclerosisHP:0040281 - Very frequent68
HP:0000648HP:0000648Optic atrophy0SLC30A9 CL E G H104631329OMIM:617595Birk-Landau-Perez syndrome1
HP:0000648HP:0000648Optic atrophy0SLC38A3 CL E G H1099118044ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040284 - Very rare
HP:0000648HP:0000648Optic atrophy0SLC39A14 CL E G H2351620858OMIM:144755Hyperostosis cranialis interna.5
HP:0000648HP:0000648Optic atrophy0SLC44A1 CL E G H2344618798OMIM:618868NEURODEGENERATION, CHILDHOOD-ONSET, WITH ATAXIA, TREMOR, OPTIC ATROPHY, AND COGNITIVE DECLINE; CONATOC1
HP:0000648HP:0000648Optic atrophy0SLC52A2 CL E G H7958130224OMIM:614707Brown-Vialetto-Van laere syndrome 2HP:0040283 - Occasional47
HP:0000648HP:0000648Optic atrophy0SLC6A9 CL E G H653611056OMIM:617301Glycine encephalopathy with normal serum glycine4
HP:0000648HP:0000648Optic atrophy0SLC7A14 CL E G H5770929326ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent4
HP:0000648HP:0000648Optic atrophy0SMOC1 CL E G H6409320318ORPHA:1106Microphthalmia with limb anomaliesHP:0040282 - Frequent15
HP:0000648HP:0000648Optic atrophy0SNAP29 CL E G H934211133ORPHA:66631CEDNIK syndromeHP:0040282 - Frequent94
HP:0000648HP:0000648Optic atrophy0SNRNP200 CL E G H2302030859ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent83
HP:0000648HP:0000648Optic atrophy0SNX10 CL E G H2988714974OMIM:615085Osteopetrosis, autosomal recessive 8.2
HP:0000648HP:0000648Optic atrophy0SON CL E G H665111183ORPHA:500150Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndromeHP:0040283 - Occasional12
HP:0000648HP:0000648Optic atrophy0SON CL E G H665111183OMIM:617140Zttk syndrome.12
HP:0000648HP:0000648Optic atrophy0SOST CL E G H5096413771ORPHA:1513Craniodiaphyseal dysplasiaHP:0040283 - Occasional26
HP:0000648HP:0000648Optic atrophy0SOST CL E G H5096413771OMIM:122860Craniodiaphyseal dysplasia, autosomal dominant.26
HP:0000648HP:0000648Optic atrophy0SOST CL E G H5096413771ORPHA:3152SclerosteosisHP:0040283 - Occasional26
HP:0000648HP:0000648Optic atrophy0SOST CL E G H5096413771OMIM:269500Sclerosteosis 1.26
HP:0000648HP:0000648Optic atrophy0SOX5 CL E G H666011201ORPHA:313892Developmental and speech delay due to SOX5 deficiencyHP:0040282 - Frequent11
HP:0000648<