Miles-Carpenter syndrome

Term ID

DOID:0060815

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. https://www.ncbi.nlm.nih.gov/pubmed/2018061

References

• MIM:314580
• ORDO:85283
• UMLS_CUI:C1839735

Ontology

Human Disease   ( DOID:0060815 )