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GENATLAS PHENOTYPE

last update : 07-09-2018

Symbol	EDMM
Location	15q26.1
Name	macrocephaly with multiple epiphyseal dysplasia and distinctive facies
Other name(s)	Al-Gazali-Bakalinova syndrome
Corresponding gene	KIF7
Other symbol(s)	MMEDF, AGBK
Main clinical features	dysmorphic facies, genu valgum, and swelling of the joints normal stature with frontal bossing, hypertelorism, flattening of the malar region, and low-set ears, neck short, and pectus excavatum, spindle-shaped fingers with interdigital soft-tissue webbing, clinodactyly, genu valgum with prominent joints, particularly the wrist, knee, and ankle joints
Genetic determination	autosomal recessive
Function/system disorder	osteo-articular
Type	disease

Gene product

Name	aggrecan excluded

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