Phenotype #0000179981

Individual ID	00239767
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; facial dysmorphism; MRI brain microcephaly with simplified gyral pattern, mega-cisterna magna, absence rostrum and genu corpus callosum and septum pellucidum, partial absence splenium; seizures, multiple hemangiomas; severe intellectual disability (HP:0010864); speech delay (HP:0000750)
Age/Examination	03y (3 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