Phenotype #0000010347

Individual ID 00011652
Associated disease ID
Diagnosis/Initial -
Diagnosis/Definite -
Inheritance Familial, autosomal recessive
Phenotype details severe ID; no normal speech, stereotypic laughter, shy character, neonatal hypotonia, progressing to hypertonia, hyperreflexia, spasticity, drooling, not ambulant, foot deformity, head circumference -1SD, height 145cm, no epilepsy, sphincter control, normal eye, normal hearing, no overweight; 2y walk independently
Age/Examination 22y (22 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 2014-02-14 21:34:40 +01:00 (CET)
Date last edited 2014-02-15 19:03:26 +01:00 (CET)

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