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X-linked intellectual disability, Stevenson type
Disease Summary
Associated Targets ()
Mondo Description An X-linked syndromic intellectual disability characterised by intellectual deficit, hypotonia, absent deep tendon reflexes, tapered fingers and excessive fingerprint arches, genu valgum, a characteristic face and small teeth. It has been described in four males from two generations of one family. The causative gene appears to be located in the q13 region of the X chromosome.
Mondo Term and Equivalent IDs
MONDO:0019422: X-linked intellectual disability, Stevenson 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:85325
SCTID:718909001
UMLS:CN206178
MONDO:0019422
High level summary of knowledge for a disease, including descriptions and datasource references.