Global Variome shared LOVD

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

Phenotype #0000283600 Individual ID 00390061 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details Severe intellectual disability, developmental delay, seizures, primary microcephaly, tetraparesis, spasticity with permanent contractures, long fingers, thickened alveolar ridge, thickened gums, strabismus, scoliosis, exaggerated reflexes, bilateral foot deformities Inheritance Familial, autosomal recessive Age/Examination 26y (26 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 2021-11-09 16:34:00 +01:00 (CET) Date last edited N/A

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