Phenotype #0000296527

Individual ID	00403847
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental delay
Diagnosis/Definite	NEDMIGS
Phenotype details	normal birth growth parameters; weight 16.2 kg (-4.1 SD), height 119 cm (-4.3 SD)50 cm (< 3rd percentile); global developmental delay, failure to thirve, severe growth deficiency; severe intellectual disability; no epilepsy; MRI brain signal abnormalities within the globus pallidus, dentate nucleus bilaterally with nonspecific symmetrical hyperintensities in the frontal lobes in subcortical location. Evidence of dysgenesis of corpus callosum, mild diffuse brain atrophy and a prominent cisterna magna; widespread mongolian spots skin; dysmorphism, coarse facial features; strabismus, gray sclera;
Inheritance	Familial, autosomal recessive
Age/Examination	12y (12 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2022-02-24 15:46:26 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD