Global Variome shared LOVD

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

Phenotype #0000270870 Individual ID 00375657 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details intellectual disability/developmental delay; spastic quadriplegia; blindness; deafness; spastic quadriplegia, decreased muscle bulk, hypotonia; self-injurious behavior, stereotyped behavior; MRI brain normal Inheritance Familial, autosomal recessive Age/Examination - Age/Diagnosis 10y 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 2021-06-14 20:30:20 +02:00 (CEST) Date last edited N/A

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