Phenotype #0000179982

Individual ID	00239768
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 microcephalywith simplified gyral pattern, hypogenesis corpus callosum (small genu and splenium, reduced white matter volume, ventricle abnormality), large trigones; seizures, hypothyroidism, gastresophageal reflux, joint hyperextensibility, unilateral hearing loss due to left cochlear defect; severe intellectual disability (HP:0010864); speech delay (HP:0000750)
Age/Examination	00y08m (8 months)
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