Phenotypes for disease #05194 (OPA10 (atrophy, optic, type 10, with/without ataxia, mental retardation, and seizures (OPA-10)), OMIM:616732)

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AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     

Individual ID     
0000245481 Very low visual acuity (HP:0032122); Dyschromatopsia (HP:0007641); Congenital nystagmus (HP:0006934); Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Optic nerve hypoplasia (HP:0000609); Severe constriction of peripheral visual field (HP:0030526); Seizure (HP:0001250); Neurodevelopmental delay (HP:0012758); Lactic acidosis (HP:0003128) - - Familial, autosomal recessive 15y - 01y-05y - - Aude Rocatcher 00327002
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