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Miles-Carpenter syndrome
Summary
- Synonym
-
- MCS
- MRXS4
- X-linked intellectual disability, Miles-Carpenter type
- mental retardation, X-linked, syndromic 4
- mental retardation, X-linked, with congenital contractures and low fingertip arches
- Definition
- A syndromic X-linked intellectual disability characterized by severe intellectual deficit, microcephaly, exotropia, distal muscle wasting and low digital arches that has_material_basis_in variation in chromosomal region Xq13-q22.
- Super Class
- syndromic X-linked intellectual disability
External Links
- Disease Ontology
- DOID:0060815
- Mondo Disease Ontology
- UMLS
- ORDO
- OMIM
