Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000010344 Individual ID 00011649 Associated disease ID Diagnosis/Initial - Diagnosis/Definite - Inheritance Familial, autosomal recessive Phenotype details sever ID; normal speech, stereotypic laughter, shy character, neonatal hypotonia, progressing to hypertonia, hyperreflexia, Babinski sign, spasticity, no drooling, wheelchair bound, no foot deformity, head circumference -2.5SD, reduced height, no epilipsy, no sphincter control, normal eye, normal hearing, overweight; 2.5y walk independently Age/Examination 23y (23 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2014-02-14 21:02:40 +01:00 (CET) Date last edited N/A

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