Phenotype #0000270847

Individual ID 00375634
Associated disease ID
Diagnosis/Initial intellectual disability
Diagnosis/Definite JDVS
Inheritance Isolated (sporadic)
Phenotype details see paper; ..., birth weight 3,14; height SD−2; weight SD0; OFC SD−1.5; mild intellectual disability; no hypotonia; no broad-based gait; sensitivity to sounds; autism spectrum disorder; broad forehead; posteriorly rotated ears; no upturned nose; thin upper lip; no broad mouth; neonatal feeding difficulty; no gastro esophageal reflux and/or vomiting; constipation; small hands; small feet; hyperlordosis; no periodic illnessc; no high pain threshold; no congenital abnormalities; no vision problems; no hypoplastic nails; no recurrent infections
Age/Examination 7y (7 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2021-06-14 16:11:36 +02:00 (CEST)
Date last edited N/A

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