syndromic X-linked mental retardation Hough type

A syndromic X-linked intellectual disability that is characterized by delayed development, intellectual disability, speech and language delay, and early-onset seizures and that has_material_basis_in hemizygous or heterozygous mutation in the CNKSR2 gene on chr

A syndromic X-linked intellectual disability that is characterized by delayed development, intellectual disability, speech and language delay, and early-onset seizures and that has_material_basis_in hemizygous or heterozygous mutation in the CNKSR2 gene on chromosome Xp22.

Signs and symptoms

• Delayed speech and language development
• Hyperactivity
• Attention deficit hyperactivity disorder
• Seizure
• Global developmental delay
• Delayed ability to walk
• Continuous spike and waves during slow sleep
• Absent speech
• Febrile seizure (within the age range of 3 months to 6 years)
• Specific learning disability