Digitorenocerebral Syndrome [Supplementary Concept]
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 introduced: November 5, 2012
MeSH Unique ID: C563052
Heading Mapped to:
Entry Terms:
- DOOR Syndrome
- Brachydactyly due to Absence of Distal Phalanges
- Eronen Syndrome
- Deafness, Onychodystrophy, Osteodystrophy, And Mental Retardation Syndrome