Phenotype #0000233398

Individual ID	00307975
Associated disease	ID
Diagnosis/Initial	intellectual diability
Diagnosis/Definite	-
Inheritance	Familial, autosomal recessive
Phenotype details	see paper; ..., Intellectual disability, Attention deficit hyperactivity disorder, Failure to thrive, Microcephaly, Abnormal facial shape, Partial agenesis of corpus callosum, Holoprosencephaly, Pachygyria, Absent septum pellucidum, Delayed motor and language development; Ataxia, Dystonia, Spasticity, Short stature
Age/Examination	13y (13 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2020-08-23 13:31:08 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD