MeSH Browser

MeSH Supplementary: Digitorenocerebral Syndrome
Unique ID: C563052
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C563052
Entry Term(s): Brachydactyly due to Absence of Distal Phalanges; DOOR Syndrome; Deafness, Onychodystrophy, Osteodystrophy, And Mental Retardation Syndrome; Eronen Syndrome
Heading Mapped to: *Hand Deformities, Congenital; *Hearing Loss, Sensorineural; *Intellectual Disability; *Nails, Malformed; *Craniofacial Abnormalities
Frequency: 39
Note: A rare hereditary disorder associated with mutations in the TBC1D24 gene and characterized by MICROCEPHALY and facial abnormalities, SENSORINEURAL DEAFNESS, blindness and eye abnormalities, small or absent distal fingers and toes, seizures, and intellectual disability. Heart and kidney defects may also be present. OMIM: 220500
Date of Entry: 2012/11/05
Revision Date: 2016/08/01

Digitorenocerebral Syndrome MeSH Supplementary Concept Data 2024