Phenotype #0000327859

Individual ID	00437952
Associated disease	WITKOS
Diagnosis/Initial	-
Diagnosis/Definite	WITKOS
Phenotype details	see paper; ..., birth 39w, weight 2.55 (-1.9); hypotonia; feeding difficulties; moderate intellectual disability; global developmental delay; language delay, 3y-first words; motor delay; 18m -sit unassisted; 22m-first steps; no psychiatric diagnosis; no neurological hypotonia; no epilepsy; MRI brain no structural abnormality, numerous foci of high T2 signal peritrigonal and frontal lobe bilaterally (nonspecific) ; hypertelorism; prominent nasal bridge; relatively prominent lobes; triangular face. prominent chin. tight curly hair, plagiocephaly.; broad forehead,; mild pectus excavatum. left inguinal hernia (had herniotomy). sacral dimple (normal mri spine). bilateral 5th finger clinodactyly and brachydactyly. toes 3rd / 4th / 5th clinodactyly bilaterally, 2nd toe overrides 3rd bilaterally. tight curly hair, plagiocephaly. echolalia
Inheritance	Isolated (sporadic)
Age/Examination	-
Age/Diagnosis	-
Age/Onset	10y7m
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