Phenotype #0000346998

Individual ID	00458567
Associated disease	NDD
Diagnosis/Initial	global developmental delay,
Diagnosis/Definite	NEDGFC
Phenotype details	see paper; ..., neonatal feeding problems; global developmental delay, moderate motor delay, moderate intellectual disability, 4y-first words, no regression, growth impairment, congenital malformations, cranofacial dysmorphism; cleft palate; infancy feeding difficulties; height (-3.6); minor skeletal anomalies, umbilical hernia, mild sensorineural hearing loss
Inheritance	Familial, autosomal recessive
Age/Examination	21y (21 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2024-12-18 21:56:15 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD