hypomyelinating leukodystrophy 14

info · Genetic

A hypomyelinating leukodystrophy that is characterized by hypotonia, almost complete lack of motor or cognitive skills, and absent language development and that has_material_basis_in homozygous mutation in the UFM1 gene on chromosome 13q13.

Signs and symptoms

Cerebral atrophy
Microcephaly
Absent speech
Dystonia
Cerebellar atrophy
Seizure
Feeding difficulties
Generalized hypotonia
Respiratory insufficiency
Spasticity