Global Variome shared LOVD

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

Phenotype #0000203142 Individual ID 00265345 Associated disease ID Diagnosis/Initial - Diagnosis/Definite - Inheritance Familial, autosomal recessive Phenotype details intellectual disability/global developmental delay; motor delay; language delay; autistic features/stereotypy; no hyperactivity; screaming/laughing spells; self-injury/hand-biting; no bruxism; hypotonia in infancy; nonambulatory; no MRI brain abnormalities; no seizures; no microcephaly; no dysmorphic features; no ophthalmologic features; gastrointestinal symptoms Age/Examination 18y (18 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Caroline Dias Database submission license No license selected Created by Caroline Dias Date created 2019-09-20 22:19:13 +02:00 (CEST) Date last edited 2019-12-07 10:30:40 +01:00 (CET)

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