OBO ID: DOID:0111843 |
Term Name: | Paganini-Miozzo syndrome | Search Ontology: | |
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Definition: | A syndromic X-linked intellectual disability characterized by global developmental delay, impaired intellectual development, high myopia, and mild dysmorphic facial features that has_material_basis_in hemizygous mutation in the HS6ST2 gene on chromosome Xq26.2. https://www.ncbi.nlm.nih.gov/pubmed/30471091 | ||
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Ontology: | Human Disease ( DOID:0111843 ) |
OTHER Paganini-Miozzo syndrome PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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