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DOID:0060815 - Miles-Carpenter syndrome
Disease Ontology 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.
Synonyms: 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,
Xenbase Genes : zc4h2
MONDO:0010666 - obsolete Miles-Carpenter syndrome |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee