Phenotype #0000270845

Individual ID 00375632
Associated disease ID
Diagnosis/Initial intellectual disability
Diagnosis/Definite JDVS
Inheritance Isolated (sporadic)
Phenotype details see paper; ..., birth weight 3,429kg; height SD+0.41; weight SD>+2.5; OFC SD+3.49; severe intellectual disability ; no hypotonia; no broad-based gait; autism spectrum disorder, attention problems, oppositional, aggression; no feeding difficulty; no gastro esophageal reflux and/or vomiting; no constipation; no periodic illnessc; no congenital abnormalities; no vision problems; recurrent infections
Age/Examination 15y (15 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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