Search Ontology:
Human Disease

syndromic X-linked intellectual disorder Lujan-Fryns-type

Term ID
DOID:0080985
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 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models