OBO ID: DOID:0080985
Term Name: syndromic X-linked intellectual disorder Lujan-Fryns-type Search Ontology:
Synonyms:
Definition: 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. (2)
References:
Ontology: Human Disease   ( DOID:0080985 )
OTHER syndromic X-linked intellectual disorder Lujan-Fryns-type PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
MED12 Lujan-Fryns syndrome 309520
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None