Visualize Submit Comment

Metadata
ID	DOID:0112044
Name	non-syndromic X-linked intellectual disability 98
Definition	A non-syndromic X-linked intellectual disability characterized by delayed psychomotor development, poor speech, behavioral abnormalities, poor overall growth, dysmorphic facial features, and often early-onset seizures, with males generally more severely affected than females that has_material_basis_in heterozygous or hemizygous mutation in NEXMIF on chromosome Xq13.3. https://pubmed.ncbi.nlm.nih.gov/23615299/, https://pubmed.ncbi.nlm.nih.gov/27358180/
Xrefs	OMIM:300912
Synonyms	MRX98 [EXACT] X-linked mental retardation 98 [EXACT]
Parent Relationships	is_a X-linked dominant disease is_a non-syndromic X-linked intellectual disability