Global Variome shared LOVD

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

Phenotype #0000278907 Individual ID 00385126 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details developmental delay; intellectual disability; hearing loss; regression; no seizures; no ataxia; hypotonia; spasticity; visual impairment; speech; mortality; no dysmorphic facial features; no behavioral abnormalities; no leukodystrophy Inheritance Familial, autosomal recessive Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2021-10-08 11:02:11 +02:00 (CEST) Date last edited N/A

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