Kleefstra syndrome 1

Term ID

DOID:0060352

Synonyms

• 9q subtelomeric deletion syndrome
• 9q-syndrome
• 9q34 deletion syndrome

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. (4)

References

• GARD:8672
• MESH:C563043
• NCI:C129976
• OMIM:610253
• ORDO:261494
• UMLS_CUI:C0795833

Ontology

Human Disease   ( DOID:0060352 )