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GENATLAS PHENOTYPE

last update : 16-11-2022

Symbol	OFD17
Location	4q28.1
Name	orofaciodigital syndrome XVII
Corresponding gene	INTU
Main clinical features	short stature and low weight, prominent forehead and nose, low-set ears with hearing loss, midline cleft lip, and retrognathia also multiple digital anomalies, including bifid thumbs and great toes, short index fingers due to shortening of the middle phalanx, polydactyly of the hands and feet, and a Y-shaped central metacarpal
Genetic determination	autosomal recessive
Function/system disorder	osteo-articular
Type	disease

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