Seckel Syndrome 4; Sckl4
Description
Seckel syndrome is a rare autosomal recessive disorder characterized by severe pre- and postnatal growth retardation, severe microcephaly with mental retardation, and specific dysmorphic features (Faivre et al., 2002).For a general description and a discussion of genetic heterogeneity of Seckel syndrome, see {210600}.
Clinical Features
Top most frequent phenotypes and symptoms related to Seckel Syndrome 4; Sckl4
- Intellectual disability
- Short stature
- Microcephaly
- Growth delay
- Failure to thrive
- Low-set ears
- Cognitive impairment
- Intrauterine growth retardation
- Abnormality of the skeletal system
- High forehead
And another 7 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.
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 4; Sckl4 Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
---|
Epilepsy Advanced Sequencing and CNV Evaluation - Developmental Brain Malformations.
By Athena Diagnostics Inc (United States).
SHH, STIL, SIX3, TUBA8, SLC25A19, DEAF1, ARFGEF2, RAB3GAP1, CENPJ, NDE1, FKRP, ARX, ASPM, POMGNT1, POMT2, TUBA1A, COL4A1, CPT2, WDR62, DCX , (...)
View the complete list with 20 more genes
Specificity
3 %
Genes
100 % |
Epilepsy Advanced Sequencing and CNV Evaluation.
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 % |
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 % |
CENPJ sequencing.
By Genetic Services Laboratory University of Chicago (United States).
CENPJ
Specificity
100 %
Genes
100 % |
Autosomal Recessive Primary Microcephaly Tier 2 panel.
By Genetic Services Laboratory University of Chicago (United States).
STIL, SLC25A19, ZNF335, ARFGEF2, STAMBP, CENPJ, NDE1, CDK6, CENPE, CENPF, CDK5RAP2, CIT, MED17, KNL1, WDR62, SASS6, CEP63, MFSD2A, CEP135, CEP152 , (...)
View the complete list with 4 more genes
Specificity
5 %
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 % |
You can get up to 57 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
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