Global Variome shared LOVD

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Phenotype #0000247037 Individual ID 00328828 Associated disease neuropathy, optic Phenotype details Severely reduced visual acuity (HP:0001141); Horizontal nystagmus (HP:0000666); High myopia (HP:0011003); Alternating esotropia (HP:0001137); Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Optic nerve hypoplasia (HP:0000609); Intellectual disability, mild (HP:0001256); Neutropenia, mild (HP:0001875); Leukopenia (HP:0001882); Hearing impairment (HP:0000365); Chorea (HP:0002072); Dysarthria (HP:0001260); Periventricular heterotopia (HP:0007165) Diagnosis/Initial - Diagnosis/Definite - Inheritance Familial, autosomal recessive Age/Examination 15y (15 years) Age/Diagnosis - Age/Onset 03y Phenotype/Onset - Protein - Owner name Aude Rocatcher Database submission license Creative Commons Attribution 4.0 International Created by Aude Rocatcher Date created 2021-02-01 10:41:09 +01:00 (CET) Date last edited 2021-02-04 10:48:10 +01:00 (CET)

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