Phenotype #0000203139

Individual ID	00265342
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; seizures; microcephaly; no dysmorphic features; no ophthalmologic features; gastrointestinal symptoms
Age/Examination	11y (11 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 22:09:19 +02:00 (CEST)
Date last edited	2019-12-07 10:14:48 +01:00 (CET)

Global Variome shared LOVD