Phenotype #0000346258

Individual ID 00457809
Associated disease NDD
Diagnosis/Initial autoimmune myasthenia gravis, learning disability, facial dysmorphisms, delayed motor development
Diagnosis/Definite GADEVS
Phenotype details see paper; ..., motor delay; delayed speech/ language development; intellectual disability; behavioral abnormality; normal movement; MRI brain abnormal; no musculature hypotonia; broad forehead; no facial asymmetry; broad nasal tip; thick lower lip vermilion; no pointed chin; ear abnormality; cardiac abnormalities; feeding difficulties; skeletal abnormalities
Inheritance Isolated (sporadic)
Age/Examination 25y (25 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 15:04:29 +01:00 (CET)
Date last edited 2024-11-19 15:11:18 +01:00 (CET)

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