hypomyelinating leukodystrophy 3

A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of early infantile onset of global developmental delay, lack of development, lack of speech acquisition, and peripheral spasticity associated with decreased myelination in the ce

A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of early infantile onset of global developmental delay, lack of development, lack of speech acquisition, and peripheral spasticity associated with decreased myelination in the central nervous system that has_material_basis_in homozygous mutation in the AIMP1 gene on chromosome 4q24.

Signs and symptoms

• Coarse facial features
• Failure to thrive
• Nystagmus
• Spastic paraparesis
• Axial hypotonia
• Microcephaly
• Absent speech
• Global developmental delay
• Appendicular spasticity
• Abnormal pyramidal sign

Also known as: HLD3; Pelizaeus-Merzbacher-like disease due to AIMP1 mutation