Phenotype #0000300277

Individual ID	00408148
Associated disease	MSSD
Phenotype details	see paper; ..., four digits both hands due to bilateral complete cutaneous and osseous syndactyly third and fourth fingers; bilateral fifth finger clinodactyly; bilateral shortening and broadening first toe, broad second toe, bilateral clinodactyly fourth toe; partial cutaneous syndactyly second and third toes; hypoplastic nails fingers and toes; no other malformations, no reduced functionality, no skeletal abnormalities in parents.
Diagnosis/Initial	mesoaxial synostotic syndactyly
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	MSSD
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2022-04-14 19:14:41 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD