Phenotype #0000321490

Individual ID 00430769
Associated disease neuropathy, optic
Phenotype details Delayed ability to walk (HP:0031936); Delayed speech and language development (HP:0000750); Abnormal pupillary light reflex (HP:0007695); Nystagmus (HP:0000639); Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Bulbous nose (HP:0000414); Microtia (HP:0008551); Hypertelorism (HP:0000316); Thick upper lip vermilion (HP:0000215); Short philtrum (HP:0000322); Eczema (HP:0000964); Seizure (HP:0001250); Bilateral tonic-clonic seizure (HP:0002069); Focal impaired awareness seizure (HP:0002384); Elevated brain lactate level by MRS (HP:0012707); EEG abnormality (HP:0002353)
Diagnosis/Initial -
Diagnosis/Definite -
Inheritance Familial, autosomal recessive
Age/Examination 26y (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 20:15:20 +01:00 (CET)
Date last edited 2023-01-27 19:21:39 +01:00 (CET)

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