Terminology Service for NFDI4Health

Kleefstra syndrome 1

Go to external page http://purl.obolibrary.org/obo/DOID_0060352


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

Label

Kleefstra syndrome 1

Synonyms
  • 9q subtelomeric deletion syndrome
  • 9q-syndrome
  • 9q34 deletion syndrome
database cross reference
Subsets

DO_FlyBase_slim, DO_rare_slim, NCIthesaurus

created by

elvira

creation date

2015-07-14T16:49:09Z

has alternative id

DOID:0070075

has obo namespace

disease_ontology

id

DOID:0060352