Phenotype #0000239665

Individual ID	00315919
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental disorder
Diagnosis/Definite	GAND
Phenotype details	birth 42w; birth weight 4075g, length 55cm, OFC 38cm; weight 0 SD, height 0 SD, OFC 0 SD; no neonatal hypotonia; motor delay; 14m-sit; 24m-walk; speech delay; 18m-first words; moderate intellectual deficiency; no behavioral problems; no feeding difficulties; no sleep disorder; no constipation; no deafness; vision disorder; strabismus; MRI brain no abnormalities; no macrocephaly; no dysmorphic features; no broad forehead; no narrow palpebral fissures; no deeply set eyes; no hypertelorism; no periorbital fullness; no ear anomalies; no large/prominent nose; no tubular shaped nose; no wide nasal base; no short philtrum; no broad mouth; no downturned mouth; no thin upper lip; no pointed chin; no blond hair; no thin hair
Inheritance	Isolated (sporadic)
Age/Examination	-
Age/Diagnosis	12y
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