Phenotype #0000327892

Individual ID 00437988
Associated disease WITKOS
Diagnosis/Initial -
Diagnosis/Definite WITKOS
Phenotype details developmental delay; speech delay; no behavioral problems; hypotonia; feeding difficulties; head circumference below −2SD, height not below −2SD; no epilepsy; no skeletal abnormalities; hearing loss; typical facial dysmorphic features; no ectodermal symptoms; atrial septal defect, sacral dimple; maternally inherited 22q12.2 duplication
Inheritance Isolated (sporadic)
Age/Examination 1y8m (1 year, 8 months)
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 2023-10-19 11:55:37 +02:00 (CEST)
Date last edited N/A

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