Phenotype #0000327856

Individual ID	00437949
Associated disease	WITKOS
Diagnosis/Initial	-
Diagnosis/Definite	WITKOS
Phenotype details	see paper; ..., birth 37w, weight 2.097 (-2); hypotonia; feeding difficulties; NG feeding; moderate/severe intellectual disability; global developmental delay; language delay, 4ylanguage delay, 3y-first words; 5y-first steps; possible autism spectrum disorder; neurological hypotonia; ?epilepsy, EEG normal; MRI brain ventriculomegaly, ?colpocephaly, foci high signal white matter, dilation lateral ventricles; epicanthus inversus, hypotelorism; narrow mouth; unilateral tag on lobe; high anterior hairline; frontal bossing; generalized hypopigmentation, micrognathia; apnoea, cow's milk protein intolerance, nystagmus secondary to oculocutaneous albinism,
Inheritance	Isolated (sporadic)
Age/Examination	-
Age/Diagnosis	-
Age/Onset	1y3m
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2023-10-17 21:19:59 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD