Search Ontology:
Human Disease

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
  • 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
Ontology
Human Disease   ( DOID:0060815 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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