neurodevelopmental disorder with midbrain and hindbrain malformations

A syndromic intellectual disability characterized by mild microcephaly, midbrain-hindbrain malformations, decreased reflexes, impaired fine motor movements, and variable dysmorphic features that has_material_basis_in homozygous mutation in the ARHGEF2 gene on

A syndromic intellectual disability characterized by mild microcephaly, midbrain-hindbrain malformations, decreased reflexes, impaired fine motor movements, and variable dysmorphic features that has_material_basis_in homozygous mutation in the ARHGEF2 gene on chromosome 1q22.

Signs and symptoms

• Astigmatism
• Strabismus
• Hypotonia
• Hypoplasia of the pons
• Frequent falls
• Intellectual disability
• Hyporeflexia
• Delayed speech and language development
• Primary microcephaly
• Long eyelashes

Also known as: NEDMHM