Phenotype #0000179978

Individual ID	00239764
Associated disease	ID
Diagnosis/Initial	intellectual disability
Diagnosis/Definite	-
Inheritance	Familial, autosomal recessive
Phenotype details	severe intellectual disability, developmental delay, delayed speech, delayed motor milestones,; ADHD, aggressive; facial dysmorphism; MRI brain microcephaly with simplified gyral pattern, near complete agenesis corpus callosum with colpocephaly, mild brain atrophy; severe intellectual disability (HP:0010864); speech delay (HP:0000750)
Age/Examination	20y (20 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2019-06-07 23:15:01 +02:00 (CEST)
Date last edited	2020-05-12 12:33:06 +02:00 (CEST)

Global Variome shared LOVD