Phenotype #0000327882

Individual ID	00437975
Associated disease	WITKOS
Diagnosis/Initial	-
Diagnosis/Definite	WITKOS
Phenotype details	see paper; ..., birth 41w+3 , weight 2.95 (-1.126); no hypotonia; No; Joint laxity, Unilateral hypermetropia ; mild intellectual disability; mild global developmental delay; language delay, 11m-first words; receptive > expressive ; mild motor delay; 5msit unassisted; 14m-first steps; no psychiatric diagnosis; neurological hypotonia; no epilepsy; MRI brain 3y-normal; hypotelorism; small nasal bridge; small mouth, thin lips, small incisors and relatively large canines; normal; flat midface; relatively short fingers; clinodactyly, widened sandal gap, right great toe angled towards lateral edge of foot, glue ear, multiple dental caries
Inheritance	Isolated (sporadic)
Age/Examination	-
Age/Diagnosis	-
Age/Onset	6y6m
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