Phenotype #0000016199

Individual ID 00017846
Associated disease ID
Diagnosis/Initial -
Diagnosis/Definite -
Inheritance Familial, X-linked recessive
Phenotype details see paper; 9m-some delay motor development, 9m-sitting, 25m-walking; 27m speaks only three words, formal developmental testing confirmed delay, height 84 cm (below 3rd percentile), weight 12.7 kg (25th percentile), head circumference 48.4 cm (25th percentile), mild facial dysmorphism, prominent forehead, generalized joint hyperlaxity, normal male genitalia, skin significant eczema, brain MRI normal; mother learning difficulties, she attended special education; sister with learning difficulties
Age/Examination 02y03m (2 years, 3 months)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Pierre Billuart
Database submission license No license selected
Created by Pierre Billuart
Date created 2014-07-04 16:48:40 +02:00 (CEST)
Date last edited 2015-01-25 12:07:30 +01:00 (CET)

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