Visualize Submit Comment

Metadata
ID	DOID:0080985
Name	syndromic X-linked intellectual disorder Lujan-Fryns-type
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. https://www.ncbi.nlm.nih.gov/books/NBK1676/, https://medlineplus.gov/genetics/condition/lujan-syndrome/
Xrefs	GARD:3307 MIM:309520 ORDO:776
Subsets	DO_rare_slim
Parent Relationships	is_a X-linked recessive disease is_a syndromic X-linked intellectual disability
Subclass Logical Relationships	has material basis in some X-linked recessive inheritance has phenotype some Abnormal facial shape