Phenotype #0000239661

Individual ID	00315915
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental disorder
Diagnosis/Definite	GAND
Phenotype details	birth 38w; birth weight 3800g, length 50cm, OFC 41cm; weight −2.3 SD, height −2.5 SD, OFC +3.5 SD; neonatal hypotonia; motor delay; 12m-sit; 3y-walk; speech delay; profound intellectual deficiency; behavioral problems; feeding difficulties; sleep disorder; constipation; no deafness; no vision disorder; strabismus; MRI brain abnormalities, no white matter signal, no myelination delay, ventriculomegaly enlarged CSF space; macrocephaly; dysmorphic features; broad forehead; narrow palpebral fissures; no deeply set eyes; hypertelorism; periorbital fullness; no ear anomalies; large/prominent nose; tubular shaped nose; wide nasal base; short philtrum; broad mouth; no downturned mouth; thin upper lip; pointed chin; blond hair; thin hair; no hands/feet anomalies; no long fingers; no clinodactyly
Inheritance	Isolated (sporadic)
Age/Examination	15y6m (15 years, 6 months)
Age/Diagnosis	14y6m
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2020-10-30 10:06:36 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD