Leukodystrophy, Hypomyelinating, 20 (HLD20)

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OMIM®: ⁵⁷ Hypomyelinating leukodystrophy-20 (HLD20) is an autosomal recessive neurodegenerative disorder characterized by the loss of developmental milestones at about 12 to 16 months of age after normal early development. Patients lose motor, language, and cognitive skills and show poor overall growth with microcephaly. The disorder is progressive, resulting in feeding difficulties and spastic quadriplegia. Some patients may have seizures. Brain imaging shows subcortical white matter abnormalities and a thin corpus callosum, suggesting a myelination defect. Death usually occurs in childhood (Al-Abdi et al., 2020). For a discussion of genetic heterogeneity of HLD, see 312080. (619071) (Updated 08-Dec-2022)

MalaCards based summary: Leukodystrophy, Hypomyelinating, 20, is also known as hld20. An important gene associated with Leukodystrophy, Hypomyelinating, 20 is CNP (2',3'-Cyclic Nucleotide 3' Phosphodiesterase). Affiliated tissues include brain, and related phenotypes are scoliosis and ptosis

UniProtKB/Swiss-Prot: ⁷³ An autosomal recessive disorder characterized by neuroregression and loss of motor, language and cognitive skills, after a normal early development. Disease onset is between 12 and 18 month of age. Patients show poor overall growth, microcephaly, feeding difficulties and spastic quadriplegia. Some patients may have seizures. Death in childhood may occur. Hypomyelinating leukodystrophy with subcortical and periventricular white matter abnormalities is seen on brain imaging.

Disease Ontology: ¹¹ A hypomyelinating leukodystrophy characterized by progressive loss of developmental milestones starting at about 12 to 16 months of age after normal early development that has material basis in homozygous or compound heterozygous mutation in CNP on chromosome 17q21.2.

Clinical features from OMIM®:

Search Clinical Trials, NIH Clinical Center for Leukodystrophy, Hypomyelinating, 20