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Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome

Disease Summary
Associated Targets (3)
Tbio

3


Uniprot Description A X-linked contiguous gene deletion syndrome characterized by glomerulonephritis, sensorineural hearing loss, mental retardation, midface hypoplasia and elliptocytosis.
Mondo Term and Equivalent IDs
MONDO:0010263:  Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome
MESH:C564570: 
Orphanet:86818: 
SCTID:720982007: 
UMLS:C1846242: