Disease

hypomyelinating leukodystrophy 13

Definition
A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of infantile onset of delayed psychomotor development, axial hypotonia, and spasticity associated with delayed myelination and periventricular white matter abnormalities that has_material_basis_in homozygous mutation in the C11ORF73 gene on chromosome 11q14.
Synonyms
  • HLD13
Cross References
Parent Terms
Child Terms
None
Sources of Associations

Associated Genes

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Associated Models