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CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT HEARING LOSS, ABNORMAL EARS, OR DEVELOPMENTAL DELAY(CAKUTHED)

MedGen UID:
1612119
Concept ID:
C4539968
Disease or Syndrome
Synonyms: CAKUTHED
 
Gene (location): PBX1 (1q23.3)
OMIM®: 617641

Definition

CAKUTHED is an autosomal dominant highly pleiotropic developmental disorder characterized mainly by variable congenital anomalies of the kidney and urinary tract, sometimes resulting in renal dysfunction or failure, dysmorphic facial features, and abnormalities of the outer ear, often with hearing loss. Most patients have global developmental delay (summary by Heidet et al., 2017 and Slavotinek et al., 2017). [from OMIM]

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