Phenotype #0000292632

Individual ID	00399527
Associated disease	NDD
Diagnosis/Initial	Wiedemann Steiner
Diagnosis/Definite	-
Phenotype details	weight 20 (-0.99), height 109.7 (-2.44 ), OFC 54.7 (+1.67); growth failure; developmental/intellectual delay; 2y-walk; speech delay, >1y-first words, delayed speech development; 11m-IQ97; hypotonia, mild, improved with age; no seizures; behavioural anomalies, autism spectrum disorder; sleeping disorder; no cardiac anomalies; no eye anomalies; no urogenital/kidney anomalies; hands short tapering fingers, short distal phalanges, especially thumbs; normal feet; no feeding difficulties; facial dysmorphism, square shaped face, long philtrum; hypertrichosis of arms back, legs hepatomegaly, dry skin of fingers and feet
Inheritance	Isolated (sporadic)
Age/Examination	6y (6 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2022-01-21 14:10:33 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD