Kleefstra Syndrome 2; Klefs2

Description

Kleefstra syndrome-2 is an autosomal dominant neurodevelopmental disorder characterized by delayed psychomotor development, variable intellectual disability, and mild dysmorphic features (summary by Koemans et al., 2017).For a discussion of genetic heterogeneity of Kleefstra syndrome, see KLEFS1 (OMIM ).

Clinical Features

Top most frequent phenotypes and symptoms related to Kleefstra Syndrome 2; Klefs2

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly
  • Scoliosis
  • Hypertelorism
  • Abnormal facial shape
  • Ptosis

And another 25 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Kleefstra Syndrome 2; Klefs2 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Solid Tumor Panel.

By Centogene AG - the Rare Disease Company (Germany).

ROS1, BRAF, SMARCA4, SMARCB1, ARID1A, SMO, STK11, TP53, TSC1, KDM6A, VHL, KMT2C, CDH1, CDK4, CDKN2A, ASXL1, CTNNB1, DDR2, EGFR, ERBB2 , (...)

View the complete list with 41 more genes
Specificity
2 %
Genes
100 %
KMT2C.

By Fulgent Genetics Fulgent Genetics (United States).

KMT2C
Specificity
100 %
Genes
100 %
Focus::MCL™ NGS Panel.

By Cancer Genetics, Inc. Cancer Genetics, Inc. (United States).

SALL3, SI, SMARCA4, BTK, TLR2, TP53, TRAF2, NSD2, XPO1, KMT2C, CCND1, UBR5, CD79B, POT1, CDKN2A, SOCS1, COL16A1, FAT4, CTNNA2, TET2 , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
100 %
Focus::Lymphoma™ NGS Panel.

By Cancer Genetics, Inc. Cancer Genetics, Inc. (United States).

BCL6, SGK1, BRAF, ARID1A, BTK, STAT3, STAT6, SYK, TNFAIP3, FAS, TP53, IKZF1, IKZF3, KMT2C, CCND1, CCND3, CARD11, CD79A, CD79B, CDKN2A , (...)

View the complete list with 28 more genes
Specificity
3 %
Genes
100 %
Solid Tumor Gene Set.

By Genomics and Pathology Services Washington University in St. Louis (United States).

RIT1, ROS1, RXRA, FOXL2, BRAF, BRCA1, BRCA2, SMARCA4, SMARCB1, KDM5C, SOS1, STK11, TEK, TERT, TGFBR2, MED12, TP53, TSC1, TSC2, VHL , (...)

View the complete list with 100 more genes
Specificity
1 %
Genes
100 %
Melanoma Gene Set.

By Genomics and Pathology Services Washington University in St. Louis (United States).

ROS1, BRAF, TERT, MED12, TP53, KMT2C, CCND1, CDK4, CDKN2A, CTNNB1, EGFR, ERBB2, ERBB4, FGFR1, FGFR2, FGFR3, AKT1, MTOR, ALK, GNA11 , (...)

View the complete list with 18 more genes
Specificity
3 %
Genes
100 %
Genitourinary Tumors Gene Set.

By Genomics and Pathology Services Washington University in St. Louis (United States).

RXRA, BRAF, BRCA1, BRCA2, KDM5C, STAG2, TERT, MED12, TP53, TSC1, TSC2, KDM6A, VHL, KMT2C, FBXW7, CDKN1A, CDKN2A, SETD2, CREBBP, PBRM1 , (...)

View the complete list with 24 more genes
Specificity
3 %
Genes
100 %
Head & Neck Tumors Gene Set.

By Genomics and Pathology Services Washington University in St. Louis (United States).

BRCA1, BRCA2, TGFBR2, TP53, KDM6A, KMT2C, NSD1, CCND1, FBXW7, CDKN2A, ASXL1, EGFR, EP300, ERBB2, FAT1, AKT1, AKT2, AKT3, MTOR, GATA4 , (...)

View the complete list with 21 more genes
Specificity
3 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

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