hypomyelinating leukodystrophy 13

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

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.

Signs and symptoms

• Delayed brainstem auditory evoked response conduction time
• Delayed CNS myelination
• Abnormal periventricular white matter morphology
• Leukodystrophy
• Hypertonia
• Feeding difficulties
• Global developmental delay
• Secondary microcephaly
• Nystagmus
• Clonus

Also known as: HLD13