Phenotype #0000023274

Individual ID 00027201
Associated disease ID
Diagnosis/Initial -
Diagnosis/Definite -
Inheritance Familial, autosomal recessive
Phenotype details Severe ID; absent speech; Hypotonia; ataxia; Hypo/areflexia; late motor development; coarse features; Short palpebral fissures; Short palpebral fissures; Broad/bulbous nose; Broad deep long philtrum; Thick lip vermilions (upper/lower); Scoliosis/kyphosis; Brachy/camptodactyly of
5th fingers; Short and broad finger/toes; sensori neural hearing loss
Age/Examination 16y (16 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 13:24:05 +01:00 (CET)
Date last edited 2015-02-20 22:31:19 +01:00 (CET)

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