Miles-Carpenter syndrome

Summary

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 Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: zc4h2

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0010666 - obsolete Miles-Carpenter syndrome

MONDO:0010666 - obsolete Miles-Carpenter syndrome

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)