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
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)

Global Variome shared LOVD