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hypotonia, infantile, with psychomotor retardation and characteristic facies
Disease Summary
Associated Targets (3)
Tbio
2
Tchem
1
Mondo Description A rare, genetic neurodegenerative disorder characterized by severe, persistent hypotonia (presenting at birth or in early infancy), severe global developmental delay (with poor or absent speech, difficulty or inability to roll, sit or walk), profound intellectual disability, and failure to thrive. Additional manifestations include microcephaly, progressive peripheral spasticity, bilateral strabismus and nystagmus, constipation, and variable dysmorphic facial features (including plagiocephaly, broad forehead, small nose, low-set ears, micrognathia and open mouth with tented upper lip).
Mondo Term and Equivalent IDs
MONDO:0014176: hypotonia, infantile, with psychomotor retardation and characteristic facies
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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.
DC:0000718
OMIMPS:615419
Orphanet:371364
UMLS:CN204877
MONDO:0014176
High level summary of knowledge for a disease, including descriptions and datasource references.