intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies

An autosomal dominant intellectual developmental disorder that is characterized by global developmental delay with impaired intellectual development and poor or absent speech, hypotonia, ophthalmologic abnormalities, and nonspecific dysmorphic features, and th

An autosomal dominant intellectual developmental disorder that is characterized by global developmental delay with impaired intellectual development and poor or absent speech, hypotonia, ophthalmologic abnormalities, and nonspecific dysmorphic features, and that has_material_basis_in heterozygous mutation in the TNPO2 gene on chromosome 19p13.

Signs and symptoms

• Intellectual disability
• Delayed speech and language development
• Global developmental delay
• Hypotonia
• Narrow forehead
• Long philtrum
• Large fleshy ears
• Delayed CNS myelination
• Ataxia
• Coarse facial features