Global Variome shared LOVD

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

Phenotype #0000229868 Individual ID 00302786 Associated disease ID Diagnosis/Initial intellectual disability Diagnosis/Definite - Inheritance Isolated (sporadic) Phenotype details severe intellectual disability; no speech; walk-5y; epilepsy; autistic features; no microcephaly; no macrocephaly; CT brain ventriculomegaly with PVL (periventricular leukomalacia); no neurological abnormalities; congenitial malformations; no cardiac malformations; unilateral kidney agenesis; hyperlax, Ehler's Danlos diagnosis based on biopsy, behavioural issues on antipsychotics Age/Examination 21y (21 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 2020-06-01 10:33:11 +02:00 (CEST) Date last edited N/A

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