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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

GARD:8672

MESH:C563043

NCI:C129976

OMIM:610253

ORDO:261494

UMLS_CUI:C0795833

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 Kleefstra syndrome

is_a chromosomal deletion syndrome

is_a autosomal dominant disease

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