Phenotype #0000239666

Individual ID	00315920
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental disorder
Diagnosis/Definite	GAND
Phenotype details	birth 38w; birth weight 3650g, length 52cm, OFC 41cm; weight +0.5SD, height 0 SD, OFC +2.5 SD; neonatal hypotonia; motor delay; 12m; 2y6m-walk; speech delay; severe intellectual deficiency; behavioral problems; no feeding difficulties; no sleep disorder; no deafness; vision disorder; no strabismus; MRI brain abnormalities, white matter signal, no myelination delay, no ventriculomegaly enlarged CSF space; macrocephaly; dysmorphic features; broad forehead; no narrow palpebral fissures; no deeply set eyes; hypertelorism; no ear anomalies; large/prominent nose; no tubular shaped nose; wide nasal base; short philtrum; broad mouth; no downturned mouth; no thin upper lip; no pointed chin; no blond hair; no thin hair; no hands/feet anomalies; long fingers; no clinodactyly
Inheritance	Isolated (sporadic)
Age/Examination	11y (11 years)
Age/Diagnosis	12y
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