Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000272435 Individual ID 00377280 Associated disease CHTD2 Phenotype details cardiovascular anomalies, recurrent facial dysmorphisms, generalized joint hypermobility and soft/velvetyhyperextensible skin Diagnosis/Initial - Inheritance Unknown Diagnosis/Definite TAB2 multisystem disorder with cardiovascular, cutaneous, musculoskeletal and facial involvement Age/Examination 05y (5 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Cecilia Giunta Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Cecilia Giunta Date created 2021-07-16 16:39:08 +02:00 (CEST) Date last edited 2021-07-21 09:29:30 +02:00 (CEST)

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