non-syndromic X-linked intellectual disability 98

Term ID

DOID:0112044

Synonyms

• MRX98
• X-linked mental retardation 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. (2)

References

• OMIM:300912

Ontology

Human Disease   ( DOID:0112044 )