Phenotype #0000272444

Individual ID 00377292
Associated disease CHD
Inheritance Familial
Diagnosis/Initial TAB2 haploinsufficiency
Age/Examination -
Diagnosis/Definite TAB2 haploinsufficiency
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Phenotype details Facial features (long/round face, wide forehead, maxillary hypoplasia); Cardiovascular Features (Cardiomyopathy, ASD/PFO); Musculoskeletal features; Skin features.
Protein -
Owner name Lucia Micale
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Lucia Micale
Date created 2021-07-19 10:24:17 +02:00 (CEST)
Date last edited 2021-07-21 09:22:05 +02:00 (CEST)

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