Global Variome shared LOVD

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

Phenotype #0000207613 Individual ID 00269822 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details intellectual disability/global developmental delay; motor delay; language delay; no autistic features/stereotypy; hyperactivity; no screaming/laughing spells; no self-injury/hand-biting; no bruxism; no hypotonia in infancy; ambulatory; MRI brain abnormalities; no seizures; no microcephaly; dysmorphic features; no ophthalmologic features; no gastrointestinal symptoms Inheritance Familial, autosomal recessive Age/Examination 8y (8 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name Caroline Dias Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2019-12-07 10:38:38 +01:00 (CET) Date last edited N/A

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