Term Name: | Miles-Carpenter syndrome |
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Synonyms: | MCS, mental retardation, X-linked, syndromic 4, mental retardation, X-linked, with congenital contractures and low fingertip arches, Miles-Carpenter syndrome, MRXS4, X-linked intellectual disability, Miles-Carpenter type |
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. |
Ontology: | Human Disease [DOID:0060815] ( DOID:0060815 ) |