Phenotype #0000239654

Individual ID	00315908
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental disorder
Diagnosis/Definite	GAND
Phenotype details	birth 39w; birth weight 2980g, length 51.5cm, OFC 35.8cm; weight 0 SD, height 1 SD, OFC +1.5 SD; neonatal hypotonia; motor delay; 9m-sit; 27m-walk; speech delay; <1y-first words; mild intellectual deficiency; behavioral problems; feeding difficulties; no sleep disorder; no constipation; no deafness; vision disorder; strabismus; MRI brain abnormalities, no white matter signal, no myelination delay, ventriculomegaly enlarged CSF space; no macrocephaly; dysmorphic features; broad forehead; no narrow palpebral fissures; deeply set eyes; no hypertelorism; no periorbital fullness; ear anomalies; no large/prominent nose; no tubular shaped nose; no wide nasal base; no short philtrum; no broad mouth; downturned mouth; no thin upper lip; pointed chin; no blond hair; no thin hair; hands/feet anomalies; clinodactyly
Inheritance	Isolated (sporadic)
Age/Examination	7y7m (7 years, 7 months)
Age/Diagnosis	6y8m
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