Phenotype #0000021603

Individual ID	00025487
Associated disease	ID
Diagnosis/Initial	-
Diagnosis/Definite	-
Inheritance	Familial, autosomal recessive
Phenotype details	Severe cerebellar ataxia; severe intellectual disability; absent speech; coarse facial features; relative macrocephaly; brachycamptodactyly 5th finger; progressive cerebellar atrophy; Hypotonia; Talipes equinovarus; Hypo/areflexia; Short palpebral fissures; Fullness of the upper eyelid; Broad/bulbous nose; Broad deep long philtrum; Thick lip vermilions (upper/lower); Short and broad finger/toes; Elbow motion limitation; Sensorineural Hearing Loss; Pontine thinning
Age/Examination	26y (26 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	2014-12-12 14:16:02 +01:00 (CET)
Date last edited	2014-12-19 16:59:43 +01:00 (CET)

Global Variome shared LOVD