Phenotype #0000346263

Individual ID 00457814
Associated disease NDD
Diagnosis/Initial motor delay and, facial dysmorphism
Diagnosis/Definite GADEVS
Phenotype details see paper; ..., birth weight not ≤2SD; motor delay; delayed speech/ language development; intellectual disability; behavioral abnormality; abnormal movement; MRI brain abnormal; musculature hypotonia; broad forehead; facial asymmetry; no broad nasal tip; no thick lower lip vermilion; no pointed chin; ear abnormality; no cardiac abnormalities; feeding difficulties; recurrent infections; eye abnormalities; skeletal abnormalities
Inheritance Isolated (sporadic)
Age/Examination 10y (10 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
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 2024-11-19 15:56:47 +01:00 (CET)
Date last edited N/A

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