5q35 Microduplication Syndrome

Description

The newly described 5q35 microduplication syndrome is associated with microcephaly, short stature, developmental delay and delayed bone maturation.

Clinical Features

Phenotypes and symptoms related to 5q35 Microduplication Syndrome

  • Intellectual disability
  • Seizures
  • Short stature
  • Microcephaly
  • Growth delay
  • Myopia
  • Behavioral abnormality
  • Delayed skeletal maturation
  • Specific learning disability

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.

Alternative names

5q35 Microduplication Syndrome Is also known as dup(5)(q35), trisomy 5q35.

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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5q35 Microduplication Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
PreSeek Non-invasive Prenatal Gene Sequencing Screen.

By Baylor Miraca Genetics Laboratories (United States).

RIT1, BRAF, SMC1A, SOS1, SOS2, CDKL5, SYNGAP1, TSC1, TSC2, HDAC8, NSD1, CBL, SHOC2, CHD7, COL1A2, SMC3, NIPBL, FGFR2, FGFR3, HRAS , (...)

View the complete list with 9 more genes
Specificity
4 %
Genes
100 %
Syndromic Autism Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

SCN1A, SCN2A, BRAF, SLC2A1, SLC9A6, SMC1A, KDM5C, CDKL5, STXBP1, TBR1, TCF4, MED12, TSC1, TSC2, UBE3A, HDAC8, CNTNAP2, FOXP2, CACNA1C, NSD1 , (...)

View the complete list with 63 more genes
Specificity
2 %
Genes
100 %
NGS Overgrowth/Macrocephaly Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

MED12, NSD1, CDKN1C, PHF6, UPF3B, RNF135, CUL4B, DNMT3A, EZH2, GLI3, GPC3, NFIX, PTCH1, PTEN
Specificity
8 %
Genes
100 %
Sotos Syndrome.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

NSD1
Specificity
100 %
Genes
100 %
Sotos Syndrome (NSD1).

By Center for Human Genetics, Inc (United States).

NSD1
Specificity
100 %
Genes
100 %
Comprehensive Brain Malformation Panel.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

SHH, STIL, SIX3, SLC9A6, SOX2, CDKL5, TGIF1, MED12, CEP41, TUBA8, UBE3A, VLDLR, VRK1, ZIC2, ACTB, MRPS16, NSD1, RAB18, ACTG1, SLC25A19 , (...)

View the complete list with 86 more genes
Specificity
1 %
Genes
100 %
Macrocephaly.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

MED12, NSD1, PHF6, UPF3B, CUL4B, EZH2, GLI3, NFIX, PIK3CA, PTCH1, PTEN
Specificity
10 %
Genes
100 %
Sotos syndrome.

By Genetics Laboratory Shodair Children's Hospital (United States).

NSD1
Specificity
100 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

ORPHANET Genetic Syndrome Finder

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 5; SMDP5 NEPHRONOPHTHISIS 9; NPHP9 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23; EIEE23 YUAN-HAREL-LUPSKI SYNDROME; YUHAL BRUCK SYNDROME 2; BRKS2 MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, 1A; MDC1A

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