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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 15502
    Developmental Diseases 8872
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7669
        genetic disease 7157
          monogenic disease 4798
            autosomal genetic disease 3774
              autosomal recessive disease 2155
                Hypomyelinating Leukodystrophy 18 1
Path 2
Term Annotations click to browse term
  disease 15502
    disease of anatomical entity 14856
      nervous system disease 10270
        central nervous system disease 8409
          brain disease 7762
            Metabolic Brain Diseases 481
              Metabolic Brain Diseases, Inborn 414
                Hereditary Central Nervous System Demyelinating Diseases 39
                  hypomyelinating leukodystrophy 23
                    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.