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.5q35 Microduplication Syndrome Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
---|
![]() 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 % |
![]() 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 % |
![]() 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 % |
![]() By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).
NSD1
Specificity
100 %
Genes
100 % |
![]() By Center for Human Genetics, Inc (United States).
NSD1
Specificity
100 %
Genes
100 % |
![]() 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 % |
![]() 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 % |
![]() By Genetics Laboratory Shodair Children's Hospital (United States).
NSD1
Specificity
100 %
Genes
100 % |
You can get up to 103 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
ORPHANET Genetic Syndrome FinderIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 5; HHT5 LEBER CONGENITAL AMAUROSIS 2; LCA2 CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA; ARCL3A NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 1; NSLH1 LIEBENBERG SYNDROME; LBNBG