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hypotonia, infantile, with psychomotor retardation and characteristic facies 1
Disease Summary
Associated Targets (1)
Tchem
1
Mondo Description Any hypotonia, infantile, with psychomotor retardation and characteristic facies in which the cause of the disease is a mutation in the NALCN gene.
Uniprot Description A neurodegenerative disease characterized by variable degrees of hypotonia, speech impairment, intellectual disability, pyramidal signs, subtle facial dysmorphism, and chronic constipation. Some patients manifest neuroaxonal dystrophy, optic atrophy, unmyelinated axons and spheroid bodies in tissue biopsies.
Mondo Term and Equivalent IDs
MONDO:0024567: hypotonia, infantile, with psychomotor retardation and characteristic facies 1
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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.
Description from UniProt.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
OMIM:615419
UMLS:C3809454
MONDO:0024567
High level summary of knowledge for a disease, including descriptions and datasource references.