Seckel Syndrome 1; Sckl1
Description
Seckel syndrome is a rare autosomal recessive disorder characterized by intrauterine growth retardation, dwarfism, microcephaly with mental retardation, and a characteristic 'bird-headed' facial appearance (Shanske et al., 1997).
Clinical Features
Top most frequent phenotypes and symptoms related to Seckel Syndrome 1; Sckl1
- Intellectual disability
- Seizures
- Short stature
- Microcephaly
- Scoliosis
- Growth delay
- Micrognathia
- Strabismus
- Cleft palate
- Cryptorchidism
And another 72 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
Seckel Syndrome 1; Sckl1 Is also known as bird-headed dwarfism, nanocephalic dwarfism, sckl, microcephalic primordial dwarfism i, seckel-type dwarfism.
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.Seckel Syndrome 1; Sckl1 Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
---|
NGS Epilepsy/Seizure Panel.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).
SCN1A, SCN1B, SCN2A, SCN5A, SCN8A, SCN9A, SHH, ST3GAL3, ST3GAL5, STIL, SIX3, SLC2A1, SLC35A2, SLC9A6, SNAP25, SPTAN1, CDKL5, STXBP1, SYN1, SYNGAP1 , (...)
View the complete list with 124 more genes
Specificity
1 %
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 % |
Microcephaly.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).
STIL, SLC9A6, CDKL5, TCF4, UBE3A, RAB18, SLC25A19, ZEB2, CASK, PCNT, RAB3GAP1, RAB3GAP2, CENPJ, IER3IP1, CDK5RAP2, ASPM, TUBB3, WDR62, DHCR7, NIPBL , (...)
View the complete list with 8 more genes
Specificity
4 %
Genes
100 % |
ATR sequencing.
By Genetic Services Laboratory University of Chicago (United States).
ATR
Specificity
100 %
Genes
100 % |
Seckel Syndrome Panel.
By Genetic Services Laboratory University of Chicago (United States).
NIN, PCNT, CENPJ, CEP63, CEP152, DNA2, TRAIP, LIG4, ATR, RBBP8
Specificity
10 %
Genes
100 % |
Comprehensive Primordial Dwarfism Panel.
By Genetic Services Laboratory University of Chicago (United States).
PLK4, XRCC4, CRIPT, PCNT, ORC6, CENPJ, CDC6, GMNN, RTTN, CDK5RAP2, CUL7, POC1A, CDT1, LARP7, CCDC8, SASS6, CEP63, OBSL1, CEP152, DNA2 , (...)
View the complete list with 8 more genes
Specificity
4 %
Genes
100 % |
Microcephaly Sequencing Panel.
By Genetic Services Laboratory University of Chicago (United States).
STIL, SLC2A1, SLC9A6, PLK4, CDKL5, TCF4, UBE3A, WWOX, RAB18, CRIPT, SLC25A19, ZEB2, CASK, TSEN34, ZNF335, ARFGEF2, PCNT, TBC1D20, TUBGCP4, STAMBP , (...)
View the complete list with 50 more genes
Specificity
2 %
Genes
100 % |
Microcephaly Deletion/Duplication Panel.
By Genetic Services Laboratory University of Chicago (United States).
STIL, SLC1A4, SLC2A1, SLC9A6, SOX11, PLK4, CDKL5, TCF4, UBE3A, USP18, WWOX, RAB18, CRIPT, SLC25A19, ZEB2, NIN, PPP1R15B, CASK, TSEN34, ZNF335 , (...)
View the complete list with 59 more genes
Specificity
2 %
Genes
100 % |
You can get up to 61 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
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