Phenotype #0000270834

Individual ID 00375621
Associated disease ID
Diagnosis/Initial intellectual disability
Diagnosis/Definite JDVS
Inheritance Isolated (sporadic)
Phenotype details see paper; ..., birth weight 2,78kg; height SD−2.7; weight SD+2.3; OFC SD+0.7; mild/moderate intellectual disability; hypotonia; broad-based gait; attention deficit hyperactivity disorder, oppositional defiant disorder, anxiety disorder; broad forehead; low-set, posteriorly rotated ears; upturned nose; no thin upper lip; broad mouth; neonatal feeding difficulty; gastro esophageal reflux and/or vomiting; no constipation; hyperlordosis; periodic illnessc; bicuspid aortic valve; myopia, nystagmus, amblyopia; hypoplastic toenails; no recurrent infections
Age/Examination 14y (14 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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