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Term:Hypomyelinating Leukodystrophy 18
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Accession:DOID:9000521 term browser browse the term
Definition:Hypomyelinating leukodystrophy-18 (HLD18) is an autosomal recessive neurologic disorder characterized by onset of global developmental delay usually in early infancy. Affected individuals have very poor psychomotor development, including inability to sit or walk independently in the more severe cases, as well as poor or absent speech, dystonia, and spasticity. A subset of patients may develop seizures. Brain imaging shows hypomyelinating leukodystrophy affecting various brain regions; some patients may also have progressive atrophy of the corpus callosum, thalami, and cerebellum. HLD18 is caused by homozygous or compound heterozygous mutation in the DEGS1 gene on chromosome 1q42. (OMIM)
Synonyms:exact_synonym: HLD18
 primary_id: OMIM:618404
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Hypomyelinating Leukodystrophy 18 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Degs1 delta(4)-desaturase, sphingolipid 1 JBrowse link 13 100,665,265 100,672,731 RGD:7240710

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Path 1
Term Annotations click to browse term
  disease 14924
    Developmental Diseases 7770
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7092
        genetic disease 6457
          monogenic disease 3202
            autosomal genetic disease 2133
              autosomal recessive disease 1209
                Hypomyelinating Leukodystrophy 18 1
Path 2
Term Annotations click to browse term
  disease 14924
    disease of anatomical entity 14094
      nervous system disease 9141
        central nervous system disease 6931
          brain disease 6435
            Metabolic Brain Diseases 431
              Metabolic Brain Diseases, Inborn 370
                Hereditary Central Nervous System Demyelinating Diseases 37
                  hypomyelinating leukodystrophy 22
                    Hypomyelinating Leukodystrophy 18 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.