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Digitorenocerebral Syndrome MeSH Supplementary Concept Data 2022


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
Registry Number
0
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 Preferred
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