Phenotype #0000304778

Individual ID	00412787
Associated disease	SCAR17
Phenotype details	Global developmental delay, Cerebellar hypoplasia, Dandy-Walker malformation, Hypoplasia of the corpus callosum, Aplasia/Hypoplasia involving the central nervous system, Intellectual disability, Poor fine motor coordination, Delayed gross motor development, Facial grimacing, Bradyphrenia, Behavioral abnormality, Attention deficit hyperactivity disorder
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	10y (10 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Andreas Laner
Database submission license
Created by	Andreas Laner
Date created	2022-07-04 15:51:43 +02:00 (CEST)
Date last edited	2022-11-14 16:12:05 +01:00 (CET)

Global Variome shared LOVD