Phenotype #0000010351

Individual ID 00011656
Associated disease ID
Diagnosis/Initial -
Diagnosis/Definite -
Inheritance Familial, autosomal recessive
Phenotype details severe ID; no normal speech, stereotypic laughter, no shy character, neonatal hypotonia, progressing to hypertonia, spasticity, no drooling, not ambulant (crawling), never walked independently, foot deformity, head circumference -4SD, height 105cm, epilepsy, no sphincter control, normal eye, normal hearing, no overweight
Age/Examination 06y (6 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2014-02-15 17:53:24 +01:00 (CET)
Date last edited N/A

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