Phenotype #0000239659

Individual ID	00315913
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental disorder
Diagnosis/Definite	GAND
Phenotype details	birth 38w; birth weight 3140g, length 52cm, OFC 37.5cm; weight +0.5 SD, height +0.75 SD, OFC 4 SD; neonatal hypotonia; motor delay; 18m-sit; 5y-walk; speech delay; 6y-first words; moderate intellectual deficiency; no behavioral problems; no feeding difficulties; no sleep disorder; no constipation; no deafness; vision disorder; strabismus; MRI brain abnormalities, white matter signal, no myelination delay, ventriculomegaly enlarged CSF space; macrocephaly; dysmorphic features; broad forehead; no narrow palpebral fissures; no deeply set eyes; hypertelorism; no periorbital fullness; no ear anomalies; no large/prominent nose; no tubular shaped nose; wide nasal base; no short philtrum; no broad mouth; no downturned mouth; no thin upper lip; no blond hair; no thin hair; no hands/feet anomalies; no long fingers; no clinodactyly
Inheritance	Isolated (sporadic)
Age/Examination	6y (6 years)
Age/Diagnosis	7y
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