Phenotype #0000239649

Individual ID	00315903
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental disorder
Diagnosis/Definite	GAND
Phenotype details	birth 39w; birth weight 2830g, length 50cm, OFC 35.5cm; weight 2 SD, height +1.5 SD, OFC +2.5 SD; no neonatal hypotonia; motor delay; 10m-sit; 24m-walk; speech delay; 2.5y-first words; moderate intellectual deficiency; behavioral problems; no feeding difficulties; no sleep disorder; constipation; no deafness; vision disorder; strabismus; MRI brain abnormalities, white matter signal, no myelination delay, no ventriculomegaly enlarged CSF space; macrocephaly; dysmorphic features; broad forehead; no narrow palpebral fissures; deeply set eyes; hypertelorism; periorbital fullness; no ear anomalies; large/prominent nose; tubular shaped nose; no wide nasal base; no short philtrum; no broad mouth; no downturned mouth; no thin upper lip; pointed chin; blond hair; no thin hair; hands/feet anomalies; no long fingers; no clinodactyly
Inheritance	Isolated (sporadic)
Age/Examination	4y (4 years)
Age/Diagnosis	5y
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