| Metadata | |
|---|---|
| ID | DOID:0060352 |
| Name | Kleefstra syndrome 1 |
| 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. https://en.wikipedia.org/wiki/9q34_deletion_syndrome, https://www.ncbi.nlm.nih.gov/pubmed/15264279, https://www.ncbi.nlm.nih.gov/pubmed/16826528, https://www.ncbi.nlm.nih.gov/pubmed/21245904 |
| Xrefs | |
| Alternateids |
DOID:0070075 |
| Subsets |
DO_FlyBase_slim DO_rare_slim NCIthesaurus |
| Synonyms |
9q subtelomeric deletion syndrome [EXACT] 9q-syndrome [EXACT] 9q34 deletion syndrome [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease is_a chromosomal deletion syndrome is_a Kleefstra syndrome |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance has material basis in some deletion and has material basis in some chromosome |