disease: 3-Methylglutaconic aciduria type 3
id | 7 |
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name | 3-Methylglutaconic aciduria type 3 |
description | OPA3-related 3-methylglutaconic aciduria is characterized by optic atrophy and/or choreoathetoid movement disorder with onset before age ten years. Optic atrophy is associated with progressive, decreased visual acuity within the first years of life, sometimes associated with infantile-onset horizontal nystagmus. Most individuals have chorea, often severe enough to restrict ambulation. Some are confined to a wheelchair from an early age. Although most individuals develop spastic paraparesis, mild ataxia, and occasional mild cognitive deficit in their second decade, the course of the disease is relatively stable. |
variant-disease |
NM_001017989.3(OPA3):c.143-17370G>A AND 3-Methylglutaconic aciduria type 3 NM_001017989.3(OPA3):c.143-22963C>A AND 3-Methylglutaconic aciduria type 3 NM_001017989.3(OPA3):c.143-17616A>G AND 3-Methylglutaconic aciduria type 3 NM_001017989.3(OPA3):c.143-23636C>T AND 3-Methylglutaconic aciduria type 3 NM_001017989.3(OPA3):c.143-21957A>T AND 3-Methylglutaconic aciduria type 3 ... 183 more |