Phenotype #0000331331

Individual ID	00441948
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental dealy
Diagnosis/Definite	-
Phenotype details	see paper; ..., high forehead, bitemporal narrowing, coarse features, telecanthus, blue sclerae, prominent nasal bridge, low set ears, long philtrum; severe global developmental delay; hypotonia, attention deficit, dysarthria, clumsy/ataxic gait; irregular outline to the bodies of both lateral ventricles in addition to the increased T2 hyperintensity returned from the periventricular white matter, thinning and foreshortening of the body of the corpus callosum, cavum septum pellucidum; no cardiac anomalies; no respiratory problems; feeding difficulties; delayed bone age, scoliosis, pectus carinatum; esotropia, telecanthus, blueish sclerae; dental caries, myoclonic epilepsy
Inheritance	Familial, autosomal recessive
Age/Examination	4y (4 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2023-11-16 13:17:26 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD