Phenotype #0000203140

Individual ID	00265343
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; no self-injury/hand-biting; no bruxism; hypotonia in infancy; nonambulatory; no MRI brain abnormalities; no seizures; no microcephaly; dysmorphic features; ophthalmologic features; gastrointestinal symptoms
Age/Examination	15y (15 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 22:13:10 +02:00 (CEST)
Date last edited	2019-12-07 10:30:40 +01:00 (CET)

Global Variome shared LOVD