Phenotype #0000239657

Individual ID	00315911
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental disorder
Diagnosis/Definite	GAND
Phenotype details	birth 38w; birth weight 2610g, length 46cm, OFC 34.5cm; weight −2.5 SD, height −2 SD, OFC −1.5 SD; no neonatal hypotonia; motor delay; >1y-sit; 5y-walk; speech delay; 3y-first words; moderate/severe intellectual deficiency; behavioral problems; feeding difficulties; sleep disorder; no constipation; no deafness; vision disorder; strabismus; MRI brain no abnormalities, white matter signal, no myelination delay, no ventriculomegaly enlarged CSF space; no macrocephaly; dysmorphic features; broad forehead; narrow palpebral fissures; deeply set eyes; hypertelorism; periorbital fullness; 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; long fingers; clinodactyly
Inheritance	Isolated (sporadic)
Age/Examination	13y5m (13 years, 5 months)
Age/Diagnosis	13y5m
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