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GENATLAS PHENOTYPE

last update : 07-01-2015

Symbol	MSSD
Location	17p13
Name	mesoaxial synostotic syndactyly with phalangeal reduction
Other name(s)	syndactyly type IX mesoaxial synostotic syndactyly, Malik-Percin type
Corresponding gene	BHLHA9
Main clinical features	mesoaxial osseous synostosis at metacarpal level, reduction of one or more phalanges, hypoplasia of distal phalanges of preaxial and postaxial digits, clinodactyly of fifth fingers, and preaxial fusion of toes
Genetic determination	autosomal recessive
Function/system disorder	osteo-articular
Type	disease

Remark(s)