Global Variome shared LOVD

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Phenotype #0000023272 Individual ID 00027199 Associated disease ID Diagnosis/Initial - Diagnosis/Definite - Inheritance Familial, autosomal recessive Phenotype details severe cerebellar ataxia; severe intellectual disability (ID); severe impaired speech; coarse facial features; relative macrocephaly; brachycamptodactyly of fifth fingers; early-onset cerebellar atrophy; hypotonia; Talipes equino-varum; Hypo/areflexia; coarse features; Short palpebral fissures; Fullness of the upper eyelid; Broad deep long philtrum; Thick lip vermilions(upper + lower); Short and broad finger/toes; Elbow motion limitation; Hearing loss; Age/Examination 07y (7 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Marianne Vos (LOVD-team) Database submission license No license selected Created by Marianne Vos (LOVD-team) Date created 2014-12-29 10:04:08 +01:00 (CET) Date last edited 2015-02-20 22:25:53 +01:00 (CET)

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