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X-linked neurodegenerative syndrome, Hamel type
Disease Summary
Associated Targets ()
Mondo Description X-linked neurodegenerative syndrome, Hamel type is an X-linked neurodegenerative disorder characterised by intellectual deficit, blindness, convulsions, spasticity, mild hypomyelination and early death. It has been described in about ten male members from two generations of one family. The genetic defect responsible for the disorder is located in the pericentromeric region of the X chromosome, Xp11.3-q12.
Mondo Term and Equivalent IDs
MONDO:0019429: X-linked neurodegenerative syndrome, Hamel type
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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.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
Orphanet:85336
SCTID:718847005
UMLS:CN206187
MONDO:0019429
High level summary of knowledge for a disease, including descriptions and datasource references.