OBO ID: DOID:0060815
Term Name: Miles-Carpenter syndrome Search Ontology:
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 Miles-Carpenter syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
ZC4H2 Wieacker-Wolff syndrome 314580
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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