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References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
last update : 25/10/2008
Symbol SABT
Location 17q22
Name stapes ankylosis with broad thumb and toes
Other name(s) Teunissen-Cremers syndrome
Corresponding gene NOG
Other symbol(s) TCS
Main clinical features ankylosis of stapes, contractures of the elbows and knees, hyperopia and lens opacities, broad thumbs, broad first toes, and syndactyly. In most, stapedial ankylosis was bilateral, leading to a 40 to 60 dB conductive hearing loss, bilateral syndactyly of the second and third toe, fused cervical vertebrae
Genetic determination autosomal dominant
Function/system disorder osteo-articular
Type malformation
Gene product
Name noggin
Remark(s)