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Echinobase
Summary Literature (0)
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,

Echinobase Genes :



Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): syndromic X-linked intellectual disability (is_a)