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disease: Hand foot uterus syndrome

id5226
nameHand foot uterus syndrome
descriptionHand-foot-genital syndrome (HFGS) is characterized by limb malformations and urogenital defects. Mild bilateral shortening of the thumbs and great toes, caused primarily by shortening of the distal phalanx and/or the first metacarpal or metatarsal, is the most common limb malformation and results in impaired dexterity or apposition of the thumbs. Urogenital abnormalities include: abnormalities of the ureters and urethra and various degrees of incomplete Müllerian fusion in females; hypospadias of variable severity with or without chordee in males. Vesicoureteral reflux, recurrent urinary tract infections, and chronic pyelonephritis are common; fertility is normal.
variant-disease NM_000522.4(HOXA13):c.1114A>C (p.Asn372His) AND Hand foot uterus syndrome
HOXA13, 24-BP INS, 8-ALA EXP AND Hand foot uterus syndrome
NM_000522.4(HOXA13):c.355_406dup (p.Ser136Cysfs) AND Hand foot uterus syndrome
NM_000522.4(HOXA13):c.1107G>A (p.Trp369Ter) AND Hand foot uterus syndrome
HOXA13, 18-BP INS, 6-ALA EXP AND Hand foot uterus syndrome
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