You are using an outdated browser. Please upgrade your browser to improve your experience.
hypomyelinating leukodystrophy 13
Disease Summary
Associated Targets (1)
Tbio
1
Mondo Description Any leukodystrophy in which the cause of the disease is a mutation in the HIKESHI gene.
Uniprot Description An autosomal recessive neurodegenerative disorder with infantile onset, affecting mainly the central white matter. Clinical features include early feeding difficulties, global developmental delay, postnatal progressive microcephaly, truncal hypotonia, spasticity, and variable neurologic deficits, such as visual impairment.
Disease Ontology Description 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.
Download Data for hypomyelinating leukodystrophy 13
data still loading...
Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
Description from UniProt.
Description from Disease Ontology
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
DOID:0060795
OMIM:616881
UMLS:C4225170
MONDO:0014813
High level summary of knowledge for a disease, including descriptions and datasource references.