X-linked intellectual disability-short stature-overweight syndrome

A syndromic X-linked intellectual disability characterized by borderline to severe intellectual disability often associated with speech delay, short stature, elevated body mass index, and a truncal obesity pattern in older males that has_material_basis_in hemi

A syndromic X-linked intellectual disability characterized by borderline to severe intellectual disability often associated with speech delay, short stature, elevated body mass index, and a truncal obesity pattern in older males that has_material_basis_in hemizygous mutation in the THOC2 gene on chromosome Xq25.

Signs and symptoms

• Intellectual disability
• Delayed speech and language development
• Hypotonia
• Short stature
• Gait disturbance
• Abnormal cerebral white matter morphology
• Ventriculomegaly
• Atypical behavior
• Microphallus
• Microcephaly

Also known as: Kumar type of X-linked syndromic intellectual developmental disorder; MRX12; MRX35; X-linked mental retardation 12; X-linked mental retardation 35