Phenotype #0000321491

Individual ID 00430770
Associated disease neuropathy, optic
Phenotype details Nystagmus (HP:0000639); Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Ataxia (HP:0001251); Unsteady gait (HP:0002317); Delayed speech and language development (HP:0000750); Cognitive impairment (HP:0100543); Moderate global developmental delay (HP:0011343); Loss of ambulation (HP:0002505); Seizure (HP:0001250); EEG with focal spikes (HP:0011193)
Diagnosis/Initial -
Diagnosis/Definite -
Inheritance Familial, autosomal recessive
Age/Examination >26y (later than 26 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Aude Rocatcher
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Aude Rocatcher
Date created 2023-01-23 20:22:57 +01:00 (CET)
Date last edited 2023-01-27 19:21:49 +01:00 (CET)

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