Details of Disease

General Information of Disease (ID: DISHH9SN)

Disease Name Kleefstra syndrome
Synonyms
chromosome 9Q34.3 deletion syndrome; chromosome 9q deletion syndrome; 9Q subtelomeric deletion syndrome; Kleefstra syndrome; 9q34 deletion syndrome; 9q-syndrome; 9q34.3 microdeletion syndrome; 9Q- syndrome
Definition A genetic disorder characterized by intellectual disability, childhood hypotonia, severe expressive speech delay and a distinctive facial appearance with a spectrum of additional clinical features.
Disease Hierarchy
DISYKSRF: Genetic disease
DISDOXWZ: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
DISHH9SN: Kleefstra syndrome
Disease Identifiers
MONDO ID
MONDO_0012455
UMLS CUI
C4551771
MedGen ID
1684615
Orphanet ID
261494
SNOMED CT ID
724207001

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
EHMT1 TTOFXD7 Strong Genetic Variation [1]
EHMT1 TTOFXD7 Definitive Autosomal dominant [2]
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This Disease Is Related to 5 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
GATAD2B OTJL128N Limited Biomarker [3]
MED13L OTSP1W0F Limited Genetic Variation [4]
GOLGA6A OTHU9MRX Strong Genetic Variation [5]
RCBTB1 OTAYELI8 Strong Genetic Variation [5]
EHMT1 OT6QC8GK Definitive Autosomal dominant [2]
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References

1 Otopathology in Kleefstra Syndrome: A Case Report.Laryngoscope. 2020 Aug;130(8):2028-2033. doi: 10.1002/lary.28380. Epub 2019 Nov 21.
2 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
3 Adaptive and maladaptive functioning in Kleefstra syndrome compared to other rare genetic disorders with intellectual disabilities.Am J Med Genet A. 2017 Jul;173(7):1821-1830. doi: 10.1002/ajmg.a.38280. Epub 2017 May 12.
4 Genotype-phenotype evaluation of MED13L defects in the light of a novel truncating and a recurrent missense mutation.Eur J Med Genet. 2017 Sep;60(9):451-464. doi: 10.1016/j.ejmg.2017.06.004. Epub 2017 Jun 21.
5 Biochemical validation of EHMT1 missense mutations in Kleefstra syndrome.J Hum Genet. 2018 May;63(5):555-562. doi: 10.1038/s10038-018-0413-3. Epub 2018 Feb 19.