DO_rare_slim DO_FlyBase_slim NCIthesaurus has material basis in autosomal dominant disease Kleefstra syndrome 1 NCI:C129976 UMLS_CUI:C0795833 GARD:8672 MESH:C563043 ICD10CM:Q87.86 DOID:0070075 MIM:610253 ORDO:261494 2015-07-14T16:49:09Z 9q subtelomeric deletion syndrome 9q-syndrome 9q34 deletion syndrome 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. DOID:0060352 disease_ontology chromosomal deletion syndrome Kleefstra syndrome autosomal dominant inheritance deletion chromosome