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cleft lip/palate-deafness-sacral lipoma syndrome

Disease Summary
Associated Targets (0)

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Mondo Description Cleft lip/palate-deafness-sacral lipoma syndrome is characterised by cleft lip/palate, profound sensorineural deafness, and a sacral lipoma. It has been described in two brothers of Chinese origin born to non consanguineous parents. Additional findings included appendages on the heel and thigh, or anterior sacral meningocele and dislocated hip. The mode of inheritance is probably autosomal or X-linked recessive.
Mondo Term and Equivalent IDs
MONDO:0016059:  cleft lip/palate-deafness-sacral lipoma syndrome
Orphanet:2003: 
SCTID:716007007: 
UMLS:CN200748: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found