OBO ID: DOID:0060352 |
Term Name: | Kleefstra syndrome 1 | Search Ontology: | |
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Definition: | A Kleefstra syndrome that is characterized by severe mental retardation, hypotonia, microcephaly, epileptic seizures, flat face with hypertelorism, synophrys, anteverted nares, everted lower lip, carp mouth with macroglossia, and heart defects and that has_material_basis_in a microdeletion in the chromosome region 9q34.3 or by a point mutation in the EHMT1 gene located in that region. (4) | ||
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Ontology: | Human Disease ( DOID:0060352 ) |
OTHER Kleefstra syndrome 1 PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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