Phenotype #0000239651

Individual ID	00315905
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental disorder
Diagnosis/Definite	GAND
Phenotype details	birth 38w; birth weight 3580g, length 50cm, OFC 36cm; weight −1 SD, height −1 SD, OFC 3 SD; no neonatal hypotonia; motor delay; 9m-sit; 26m-walk; speech delay; 3y-first words; moderate intellectual deficiency; behavioral problems; feeding difficulties; no deafness; no vision disorder; no strabismus; MRI brain abnormalities, white matter signal, no myelination delay, ventriculomegaly enlarged CSF space; macrocephaly; dysmorphic features; broad forehead; narrow palpebral fissures; deeply set eyes; hypertelorism; no periorbital fullness; no ear anomalies; large/prominent nose; tubular shaped nose; wide nasal base; no short philtrum; no broad mouth; downturned mouth; thin upper lip; pointed chin; blond hair; no thin hair; hands/feet anomalies; no long fingers; no clinodactyly
Inheritance	Isolated (sporadic)
Age/Examination	10y (10 years)
Age/Diagnosis	8y
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