5q14.3 Microdeletion Syndrome
Description
The newly described 5q14.3 microdeletion syndrome includes severe intellectual deficit with no speech, stereotypic movements and epilepsy.
Clinical Features
Top most frequent phenotypes and symptoms related to 5q14.3 Microdeletion Syndrome
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
- Hearing impairment
- Microcephaly
- Growth delay
- Hypertelorism
- Strabismus
And another 65 symptoms. If you need more information about this disease we can help you.
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
5q14.3 Microdeletion Syndrome Is also known as monosomy 5q14.3, del(5)(q14.3), mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations.
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.5q14.3 Microdeletion Syndrome Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
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![]() By Baylor Miraca Genetics Laboratories (United States).
MEF2C
Specificity
100 %
Genes
100 % |
![]() By Baylor Miraca Genetics Laboratories (United States).
MEF2C
Specificity
100 %
Genes
100 % |
![]() By Baylor Miraca Genetics Laboratories (United States).
MEF2C
Specificity
100 %
Genes
100 % |
![]() By Athena Diagnostics Inc (United States).
SCN1A, SCN1B, SCN2A, SCN3A, SCN5A, SCN8A, SCN9A, SHH, ST3GAL3, ST3GAL5, STIL, SIX3, SLC2A1, SLC35A2, SLC6A1, SLC6A8, SLC9A6, SMC1A, KDM5C, SMS , (...)
View the complete list with 214 more genes
Specificity
1 %
Genes
100 % |
![]() By Athena Diagnostics Inc (United States).
MEF2C
Specificity
100 %
Genes
100 % |
![]() By Athena Diagnostics Inc (United States).
SCN2A, ST3GAL3, SLC35A2, SPTAN1, CDKL5, STXBP1, CACNA2D1, ARX, SLC25A22, ADSL, TBL1XR1, FOXG1, GABRB3, GRIN2A, MEF2C, NR2F1
Specificity
7 %
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).
SLC2A1, SLC9A6, CDKL5, TCF4, UBE3A, CNTNAP2, PCDH19, ZEB2, ARX, MBD5, EHMT1, CTNNB1, FOLR1, FOXG1, MECP2, MEF2C, NRXN1, OPHN1, ATRX, PNKP , (...)
View the complete list with 1 more genes
Specificity
5 %
Genes
100 % |
You can get up to 97 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
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