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severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome
Disease Summary
Associated Targets (2)
Tdark
2
Uniprot Description A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT39 affected individuals show delayed psychomotor development, severe speech delay, short stature, kyphoscoliosis, and dysmorphic facial features. Behavioral abnormalities include hyperactivity, aggression, and stereotypic movements.
Mondo Term and Equivalent IDs
MONDO:0014238: severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome
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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 UniProt.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
OMIM:615541
Orphanet:391307
UMLS:C3809853
MONDO:0014238
High level summary of knowledge for a disease, including descriptions and datasource references.