Phenotype #0000023273

Individual ID 00027200
Associated disease ID
Diagnosis/Initial -
Diagnosis/Definite -
Inheritance Familial, autosomal recessive
Phenotype details Severe ID; absent speech; ataxia; very late motor development; Talipes equino-varum; Hypo/areflexia; Coarse features; Short palpebral fissures; Fullness of the upper eyelid; Broad/bulbous nose; Broad deep long philtrumþ; Thick lip vermilions (upper /lower); Scoliosis/kyphosis; Brachy/camptodactyly of
5th fingers; Short and broad finger/toes; Cerebellar atrophy
Age/Examination 32y (32 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 11:45:26 +01:00 (CET)
Date last edited 2015-02-20 22:27:42 +01:00 (CET)

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