hypomyelinating leukodystrophy 12

A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of severely delayed or even lack of psychomotor development that becomes apparent in the first months of life, acquired microcephaly and delayed myelination that has_material_bas

A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of severely delayed or even lack of psychomotor development that becomes apparent in the first months of life, acquired microcephaly and delayed myelination that has_material_basis_in homozygous mutation in the VPS11 gene on chromosome 11q23.

Signs and symptoms

• Flexion contracture
• Hypoplasia of the corpus callosum
• Poor speech
• Hearing impairment
• Cerebellar atrophy
• Focal impaired awareness seizure
• Hypotonia
• Cerebral hypomyelination
• Delayed myelination
• Developmental stagnation

Also known as: HLD12