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| Term | Kleefstra syndrome 1 | ID (Ontology) | DOID:0060352 (Human Disease) |
| 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. | ||
| Also Known As | "9q subtelomeric deletion syndrome" ; "9q-syndrome" ; "9q34 deletion syndrome" | ||
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| Records annotated with this term OR any of its CHILD TERMS | |||
Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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autosomal genetic disease |__autosomal dominant disease_____ chromosomal disease | |__chromosomal deletion syndrome__| syndrome | |__Kleefstra syndrome_____________| Kleefstra syndrome 1 4 rec. |
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| Is a |
autosomal dominant disease chromosomal deletion syndrome Kleefstra syndrome |
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External Crossreferences & Linkouts
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GARD:8672 MESH:C563043 MIM:610253 NCI:C129976 ORDO:261494 UMLS_CUI:C0795833 |
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