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GENATLAS PHENOTYPE

last update : 28/08/2006

Symbol	OSMED
Location	6p21.32
Name	otospondylomegaepiphyseal dysplasia
Other name(s)	chondrodystrophy with neurosensory deafness Nance-Insley syndrome Nance-Sweeney chondrodysplasia
Corresponding gene	COL11A2
Main clinical features	flat face, severe neurosensory deafness, cleft palate and short limbs without ocular involvment
Genetic determination	autosomal recessive
Related entries	. including Weissenbacher-Zweymüller syndrome (OMIM 277610)
Function/system disorder	connective tissue
Type	disease

Gene product

Name	collagen type XI, alpha 2 (COL11A2)

Mechanism(s)

Gene mutation	Chromosome rearrangement	Effect	Comments
other		absent protein	premature translation termination codon

Remark(s)