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)

Global Variome shared LOVD