Phenotype #0000270840

Individual ID	00375627
Associated disease	ID
Diagnosis/Initial	intellectual disability
Diagnosis/Definite	JDVS
Inheritance	Isolated (sporadic)
Phenotype details	see paper; ..., birth weight 2,2kg; height SD<−3; weight SD+0.5; OFC SD−1.8; mild/moderate intellectual disability; no hypotonia; no broad-based gait; sensitivity to sounds; sensory integration problems, anxiety, short attention; no broad forehead; no low-set, posteriorly rotated ears; no upturned nose; no thin upper lip; no broad mouth; feeding difficulty; gastro esophageal reflux and/or vomiting; constipation; small hands; small feet; hyperlordosis; periodic illnessc; high pain threshold; no congenital abnormalities; hyper-metropia, strabismus, astigmatism, nystagmus; no hypoplastic nails; recurrent infections
Age/Examination	9y9m (9 years, 9 months)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2021-06-14 16:11:36 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD