Phenotype #0000346260

Individual ID 00457811
Associated disease NDD
Diagnosis/Initial facial dysmorphism, mildly delayed motor/speech development
Diagnosis/Definite GADEVS
Phenotype details see paper; ..., birth weight ≤2SD; motor delay; delayed speech/ language development; no intellectual disability; MRI brain abnormal; no broad forehead; no facial asymmetry; no broad nasal tip; no thick lower lip vermilion; pointed chin; no ear abnormality; no eye abnormalities; skeletal abnormalities; large open spinal dysraphism; bladder/bowel incontinence
Inheritance Isolated (sporadic)
Age/Examination 02y (2 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 15:23:45 +01:00 (CET)
Date last edited N/A

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