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About: syndromic X-linked intellectual disorder Lujan-Fryns-type     Goto   Sponge   Distinct   Permalink

An Entity of Type : owl:Class, within Data Space : linkeddata.uriburner.com:28898 associated with source document(s)

AttributesValues
type
subClassOf
label
  • syndromic X-linked intellectual disorder Lujan-Fryns-type (en)
described by
id
  • DOID:0080985
database_cross_reference
  • GARD:3307
  • OMIM:309520
  • ORDO:776
has_obo_namespace
  • disease_ontology
http://purl.obolib...g/obo/IAO_0000115
  • A syndromic X-linked intellectual disability that is characterized by a tall, marfanoid stature, distinct facial dysmorphism and behavioral problems and that has_material_basis_in hemizygous mutation in the MED12 gene on chromosome Xq13. Opitz-Kaveggia syndrome is an allelic disorder with an overlapping phenotype.
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