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General Information
ZIRC
OBO ID: DOID:0060352
Term Name: Kleefstra syndrome Search Ontology:
Synonyms:
  • 9q subtelomeric deletion syndrome
  • 9q-syndrome
  • 9q34 deletion 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. (5)
References:
Ontology: Human Disease   (DOID:0060352)
Relationships
is a type of:
OTHER Kleefstra syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
EHMT1 Kleefstra syndrome 1 610253
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None