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- Q6967220 subject Q6313232.
- Q6967220 subject Q6500135.
- Q6967220 subject Q6853484.
- Q6967220 subject Q7824736.
- Q6967220 abstract "Nasodigitoacoustic syndrome, also called Keipert syndrome, is a rare congenital syndrome first described by J.A. Keipert and colleagues in 1973. The syndrome is characterized by a mishaped nose, broad thumbs and halluces (the big toes), brachydactyly, sensorineural hearing loss, facial features such as hypertelorism (unusually wide-set eyes), and developmental delay. It is believed to be inherited in an X-linked recessive manner, which means a genetic mutation causing the disorder is located on the X chromosome, and while two copies of the mutated gene must be inherited for a female to be born with the disorder, just one copy is sufficient to cause a male to be born with the disorder. Nasodigitoacoustic syndrome is likely caused by a mutated gene located on the X chromosome between positions Xq22.2–q28. The incidence of the syndrome has not been determined, but it is considered to affect less than 200,000 people in the United States, and no greater than 1 per 2,000 in Europe. It is similar to Keutel, Muenke, Rubinstein and Teunissen-Cremers syndrome.".
- Q6967220 icd10 "Q89.8".
- Q6967220 icd9 "759.7".
- Q6967220 omim "255980".
- Q6967220 thumbnail Scheme_human_hand_bones-en.svg?width=300.
- Q6967220 wikiPageExternalLink Nasodigitoacoustic_syndrome.aspx.
- Q6967220 wikiPageExternalLink Disease_Search.php?lng=EN&data_id=2433&disease=Keipert-syndrome&search=Disease_Search_Simple.
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- Q6967220 icd "759.7".
- Q6967220 icd "Q89.8".
- Q6967220 name "Nasodigitoacoustic syndrome".
- Q6967220 omim "255980".
- Q6967220 type Disease.
- Q6967220 type Thing.
- Q6967220 type Q12136.
- Q6967220 comment "Nasodigitoacoustic syndrome, also called Keipert syndrome, is a rare congenital syndrome first described by J.A. Keipert and colleagues in 1973. The syndrome is characterized by a mishaped nose, broad thumbs and halluces (the big toes), brachydactyly, sensorineural hearing loss, facial features such as hypertelorism (unusually wide-set eyes), and developmental delay.".
- Q6967220 label "Nasodigitoacoustic syndrome".
- Q6967220 depiction Scheme_human_hand_bones-en.svg.
- Q6967220 name "Nasodigitoacoustic syndrome".