autosomal dominant intellectual developmental disorder 74

An autosomal dominant intellectual developmental disorder characterized by global developmental delay, including delay of gross and fine motor skills and speech delay, and variable subtle dysmorphic facial features that has_material_basis_in heterozygous mutat

An autosomal dominant intellectual developmental disorder characterized by global developmental delay, including delay of gross and fine motor skills and speech delay, and variable subtle dysmorphic facial features that has_material_basis_in heterozygous mutation in the HNRNPC gene on chromosome 14q11.

Signs and symptoms

• Mild intellectual disability
• Moderate intellectual disability
• Sleep disturbance
• Severe intellectual disability
• Delayed speech and language development
• Global developmental delay
• Delayed gross motor development
• Delayed fine motor development
• Thin upper lip vermilion
• Feeding difficulties