Phenotype #0000023275

Individual ID 00027202
Associated disease ID
Diagnosis/Initial -
Diagnosis/Definite -
Inheritance Familial, autosomal recessive
Phenotype details Severe ID; absent speech; Hypotonia; late motor development; ataxia; Coarse features; Short palpebral fissures; Fullness of the upper eyelid; Broad/bulbous nose; Broad deep long philtrum; Thick lip vermilions (upper/lower); Brachy/camptodactyly of 5th fingers; SN hearing loss; Cerebellar atrophy; Pontine thinning.
Age/Examination 10y (10 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 13:38:29 +01:00 (CET)
Date last edited 2015-02-20 22:32:46 +01:00 (CET)

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