Global Variome shared LOVD

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

Phenotype #0000280988 Individual ID 00387425 Associated disease ? Diagnosis/Initial triphalangeal thumb–polysyndactyly syndrome Diagnosis/Definite PPD2 Phenotype details no complete thumb duplication (21/21), partial thumb duplication (12/21), syndactyly fingers 4–5 (11/21), rudimentary postaxial polydactyly (11/21), triphalangeal thumb–polysyndactyly syndrome hand phenotype (5/21), triphalangeal thumbs (2/21), rudimentary postaxial polydactyly (2/21), no foot anomaly (21/21) Inheritance Familial, autosomal dominant Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2021-10-29 11:20:18 +02:00 (CEST) Date last edited 2021-10-29 11:33:19 +02:00 (CEST)

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