neurodevelopmental disorder with microcephaly, absent speech, and hypotonia

An autosomal recessive intellectual developmental disorder that is characterized by global developmental delay, hypotonia with virtually no motor skill acquisition, and profoundly impaired intellectual development with absent speech and that has_material_basis

An autosomal recessive intellectual developmental disorder that is characterized by global developmental delay, hypotonia with virtually no motor skill acquisition, and profoundly impaired intellectual development with absent speech and that has_material_basis_in homozygous or compound heterozygous mutation in the FLVCR1 gene on chromosome 1q32.

Signs and symptoms

• Elevated circulating creatine kinase activity
• Mild intellectual disability
• Moderate intellectual disability
• Polydactyly
• Thin corpus callosum
• Mild global developmental delay
• Hydrocephalus
• Short sternum
• Radial ray deficiency
• Laryngomalacia

Also known as: NEDMISH