Phenotype #0000207607

Individual ID	00269816
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental delay
Diagnosis/Definite	-
Phenotype details	intellectual disability/global developmental delay; motor delay; language delay; autistic features/stereotypy; hyperactivity; screaming/laughing spells; self-injury/hand-biting; bruxism; hypotonia in infancy; nonambulatory; no seizures; microcephaly; secondary microcephaly; no dysmorphic features; no ophthalmologic features; gastrointestinal symptoms
Inheritance	Familial, autosomal recessive
Age/Examination	9y (9 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Caroline Dias
Database submission license
Created by	Johan den Dunnen
Date created	2019-12-07 10:38:38 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD