Global Variome shared LOVD

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

Phenotype #0000221933 Individual ID 00288196 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details abnormal facial shape, absent speech, astigmatism, bowel incontinence, cerebral palsy, developmental delay, dystonia, flexion contracture, hypotonia, inability to walk, micrognathia, myopia, obstructive sleep apnea, osteopenia, poor head control, posteriorly rotated ears, seizures, skin rash, talipes equinovarus, tapered finger, urinary incontinence Inheritance Familial, autosomal recessive Age/Examination 15y (15 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2020-02-16 14:03:09 +01:00 (CET) Date last edited N/A

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