hypomyelinating leukodystrophy 17

info · Genetic

A hypomyelinating leukodystrophy characterized by onset in early infancy of microcephaly and lack of overall development that has_material_basis_in homozygous mutation in the AIMP2 gene on chromosome 7p22.

Signs and symptoms

Inability to walk
Seizure
Hyperreflexia
Microcephaly
Absent speech
Feeding difficulties
Profound global developmental delay
Growth delay
Hypsarrhythmia
Anteverted nares

Also known as: HLD17