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Metadata
ID DOID:0060352
Name Kleefstra syndrome
Definition A syndrome that is characterized by childhood hypotonia, a distinctive facial appearance, speech impediments, developmental disability, epilepsy, congenital and urogenetic defects, microcephaly, corpulence, and psychiatric disorders 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://ghr.nlm.nih.gov/condition/kleefstra-syndrome, 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 syndrome

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