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MCID: OPT078
MIFTS: 5
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Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome
Categories:
Ear diseases, Eye diseases, Fetal diseases, Metabolic diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental...
MalaCards integrated aliases for Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome:
Name: Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome
58
Classifications:
MalaCards categories:
Global: Metabolic diseases Fetal diseases Rare diseases Anatomical: Neuronal diseases Eye diseases Ear diseases
Orphanet: 58
Rare neurological diseases
Rare eye diseases
Rare otorhinolaryngological diseases
Inborn errors of metabolism
Developmental anomalies during embryogenesis External Ids:
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MalaCards based summary :
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome An important gene associated with Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome is FDXR (Ferredoxin Reductase). Affiliated tissues include eye.
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Symptoms & Phenotypes for Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental...
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MalaCards organs/tissues related to Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome:40
Eye
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Search
GEO
for disease gene expression data for Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome.
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