Global Variome shared LOVD

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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 International 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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