non-syndromic X-linked intellectual disability 98

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 affect

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.

Signs and symptoms

• Strabismus
• Hypotonia
• Single transverse palmar crease
• Intellectual disability
• Increased fetal movement
• Downslanted palpebral fissures
• Absent speech
• Global developmental delay
• Short digit
• Clinodactyly of the 5th finger

Also known as: MRX98; X-linked mental retardation 98