Phenotype #0000270842

Individual ID 00375629
Associated disease ID
Diagnosis/Initial intellectual disability
Diagnosis/Definite JDVS
Inheritance Isolated (sporadic)
Phenotype details see paper; ..., birth weight 3,061kg; height SD−2.3; weight SD−2.2; OFC SD−3.1; severe intellectual disability ; hypotonia; broad-based gait; sensitivity to sounds; autism spectrum disorder; broad forehead; low-set, posteriorly rotated ears; no upturned nose; thin upper lip; broad mouth; no feeding difficulty; gastro esophageal reflux and/or vomiting; constipation; small hands; small feet; hyperlordosis; periodic illnessc; high pain threshold; no congenital abnormalities; no vision problems; no hypoplastic nails; recurrent infections
Age/Examination 16y (16 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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