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Kleefstra syndrome 1
Summary
- Synonym
-
- 9q subtelomeric deletion syndrome
- 9q-syndrome
- 9q34 deletion syndrome
- 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.
- Super Class
- Kleefstra syndrome autosomal dominant disease chromosomal deletion syndrome
External Links
- Disease Ontology
- DOID:0060352
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- ORDO
- OMIM
- GARD
- MGI genotype (from TogoID)
- WikiPathways (from TogoID)
Related Genes
