Basilicata-Akhtar syndrome

A syndromic X-linked intellectual disability characterized by global developmental delay apparent from infancy, feeding difficulties, hypotonia, and poor or absent speech that has_material_basis_in hemizygous or heterozygous mutation in the MSL3 gene on chromo

A syndromic X-linked intellectual disability characterized by global developmental delay apparent from infancy, feeding difficulties, hypotonia, and poor or absent speech that has_material_basis_in hemizygous or heterozygous mutation in the MSL3 gene on chromosome Xp22.2.

Signs and symptoms

• Intellectual disability
• Delayed speech and language development
• Delayed ability to walk
• Global developmental delay
• Neonatal hypoglycemia
• Feeding difficulties
• Generalized hypotonia
• Abnormal pinna morphology
• Telecanthus
• Atypical behavior

Also known as: MRXS36; X-linked syndromic mental retardation 36; X-linked syndromic mental retardation Basilicata-Akhtar type