OBO ID: DOID:0080311 |
Term Name: | X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance | Search Ontology: | |
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Definition: | A syndromic X-linked intellectual disability characterized by neonatal hypotonia with motor delay but no obvious ataxia, marked strabismus, early-onset complex partial seizures, and moderate to severe mental retardation and has_material_basis_in mutation in the oligophrenin-1 gene. https://www.ncbi.nlm.nih.gov/pubmed/16158428 | ||
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Ontology: | Human Disease ( DOID:0080311 ) |
OTHER X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance PAGES
ZEBRAFISH MODELS
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PHENOTYPE
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CITATIONS: None
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