Optic Atrophy 10 with or Without Ataxia, Impaired Intellectual Development, and Seizures (OPA10)

Optic Atrophy 10 with or Without Ataxia, Impaired Intellectual Development, and Seizures(来自ICD-11)

别称:

Opa10

Optic Atrophy 10 with or Without Ataxia, Impaired Intellectual Development and Seizures

Optic Atrophy 10 with or Without Ataxia, Intellectual Disability, and Seizures

Atrophy, Optic, Type 10, with/without Ataxia, Mental Retardation, and Seizures

Optic Atrophy 10 with or Without Ataxia, Mental Retardation, and Seizures

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Optic Atrophy 10 with or Without Ataxia, Impaired Intellectual Development, and Seizures, also known as opa10, is related to optic atrophy 10 and 3-methylglutaconic aciduria, type iii. An important gene associated with Optic Atrophy 10 with or Without Ataxia, Impaired Intellectual Development, and Seizures is RTN4IP1 (Reticulon 4 Interacting Protein 1). Affiliated tissues include retina and heart, and related phenotypes are reduced visual acuity and color vision defect

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