Phenotype #0000270839

Individual ID	00375626
Associated disease	ID
Diagnosis/Initial	intellectual disability
Diagnosis/Definite	JDVS
Inheritance	Isolated (sporadic)
Phenotype details	see paper; ..., birth weight 3,18kg; height SD−3; weight SD2; OFC SD−1; no intellectual disability, learning difficulties; no hypotonia; no broad-based gait; anxiety disorder, attention difficulties, biting; no broad forehead; no upturned nose; thin upper lip; broad mouth; no feeding difficulty; gastro esophageal reflux and/or vomiting; no constipation; small hands; periodic illnessc; high pain threshold; no congenital abnormalities; no vision problems; no hypoplastic nails
Age/Examination	10y (10 years)
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