Phenotype #0000270836

Individual ID 00375623
Associated disease ID
Diagnosis/Initial intellectual disability
Diagnosis/Definite JDVS
Inheritance Isolated (sporadic)
Phenotype details see paper; ..., birth weight 2,655kg; height SD−2.8; weight SD−1.9; OFC SD−1.5; mild intellectual disability; hypotonia; broad-based gait; sensitivity to sounds; short attention, panic attacks; no broad forehead; low-set, posteriorly rotated ears; upturned nose; thin upper lip; broad mouth; neonatal feeding difficulty; gastro esophageal reflux and/or vomiting; no constipation; small hands; small feet; no hyperlordosis; no periodic illnessc; high pain threshold; small ventricle septum defect and small open ductus arteriosus; hyper-metropia; hypoplastic toenails
Age/Examination 5y (5 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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