Kleefstra syndrome 1
A syndrome that is characterized by severe mental retardation, hypotonia, brachy(micro)cephaly, 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. [ http://purl.obolibrary.org/obo/ECO_0007645 http://purl.obolibrary.org/obo/ECO_0007638 http://purl.obolibrary.org/obo/ECO_0007637 ]
Term info
Kleefstra syndrome 1
- 9q subtelomeric deletion syndrome
- 9q-syndrome
- 9q34 deletion syndrome
DO_FlyBase_slim, DO_rare_slim, NCIthesaurus
elvira
2015-07-14T16:49:09Z
DOID:0070075
disease_ontology
DOID:0060352