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General Information
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| Term |
syndromic X-linked intellectual disability 94 |
ID (Ontology) |
DOID:0060823 (Human Disease) |
| Definition |
A syndromic X-linked intellectual disability characterized by moderate intellectual disability with variable occurrence of asthenic body habitus, dysmorphic features, autistic features, macrocephaly, seizures, myoclonic jerks, and hyporeflexia that has_material_basis_in mutation in the GRIA3 gene on chromosome Xq25. |
| Also Known As |
"mental retardation, X-linked 94" ; "MRX94" ; "MRXS29" (for all, see Synonyms field below) |
| Comment |
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Links to External Ontologies
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DO.org
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Annotations
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Records annotated with this term OR any of its CHILD TERMS
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Records annotated with this exact term (annotations to child terms are NOT included)
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No relevant records available
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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| Full annotation statements | Relevant FlyBase reports |
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| Genes |
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syndromic X-linked intellectual disability 94 | 17 | for disease ribbon | syndromic X-linked intellectual disability 94 | 17 | model of | syndromic X-linked intellectual disability 94 | 17 |
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Relationships