Seckel Syndrome 7; Sckl7

Description

Microcephalic primordial dwarfism, Dauber type is a rare, genetic developmental defect during embryogenesis characterized by severe pre- and postnatal growth retardation, severe microcephaly, severe developmental delay and intelletual disability, severe adult short stature and facial dysmorphism (incl. hypotelorism, small ears, prominent nose). Other reported features include skeletal anomalies (Madelung deformity, clinodactyly, mild lumbar scoliosis, bilateral hip dysplasia) and seizures. Absence of thelarche and menarche is also associated.

Clinical Features

Top most frequent phenotypes and symptoms related to Seckel Syndrome 7; Sckl7

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Growth delay
  • Intrauterine growth retardation
  • Intellectual disability, severe
  • Delayed skeletal maturation
  • Obesity
And another 15 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

Not enough data available about incidence and published cases.


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Seckel Syndrome 7; Sckl7 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Seckel Syndrome Panel.

By Genetic Services Laboratory University of Chicago in United States.

CENPJ, CEP152, PCNT, ATR, DNA2, RBBP8, LIG4, CEP63, TRAIP, NIN
Specificity
10 %
Genes
100 %
Microcephaly Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago in United States.

UBE3A, SLC25A19, MECP2, SLC9A6, WWOX, CDKL5, FOXG1, SLC2A1, WDR62, NBN, MCPH1, ASPM, ARFGEF2, CENPJ, QARS, NDE1, PQBP1, RAB3GAP1, TSEN54, STIL , (...)

View the complete list with 59 more genes
Specificity
2 %
Genes
100 %
Microcephaly and pontocerebellar hypoplasia (NGS panel for 52 genes).

By CGC Genetics in Portugal.

SLC25A19, DNM1L, RARS2, WDR62, DYNC1H1, VRK1, POMT1, MCPH1, ASPM, MBD5, CENPJ, NDE1, PQBP1, TSEN54, PAFAH1B1, STIL, TUBB2B, DYRK1A, PNKP, OPHN1 , (...)

View the complete list with 32 more genes
Specificity
2 %
Genes
100 %
Microcephalic primordial dwarfism Comprehensive panel.

By Connective Tissue Gene Tests in United States.

CENPJ, CEP152, PCNT, ATR, DNA2, RBBP8, LIG4, CEP63, TRAIP, NIN, CDC45, ORC1, GMNN, CDC6, CDT1, ORC6, ORC4, RNU4ATAC, XRCC4, ATRIP , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
Microcephalic primordial dwarfism Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

CENPJ, CEP152, PCNT, ATR, DNA2, RBBP8, LIG4, CEP63, TRAIP, NIN, CDC45, ORC1, GMNN, CDC6, CDT1, ORC6, ORC4, RNU4ATAC, XRCC4, ATRIP , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
Microcephalic primordial dwarfism NGS panel.

By Connective Tissue Gene Tests in United States.

CENPJ, CEP152, PCNT, ATR, DNA2, RBBP8, LIG4, CEP63, TRAIP, NIN, CDC45, ORC1, GMNN, CDC6, CDT1, ORC6, ORC4, RNU4ATAC, XRCC4, ATRIP , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
Seckel Syndrome.

By Institute of Human Genetics Cologne University in Germany.

CENPJ, CEP152, CDK5RAP2, ATR, DNA2, RBBP8, NIN, ATRIP
Specificity
13 %
Genes
100 %
Seckel syndrome type 7.

By Centogene AG - the Rare Disease Company in Germany.

NIN
Specificity
100 %
Genes
100 %
Microcephaly and Pontocerebellar Hypoplasia Panel.

By CeGaT GmbH in Germany.

SLC25A19, RARS2, WDR62, DYNC1H1, VRK1, MCPH1, ASPM, MBD5, CENPJ, PQBP1, TSEN54, STIL, DYRK1A, PNKP, CASK, EXOSC3, TSEN34, TSEN2, CEP152, CDK5RAP2 , (...)

View the complete list with 16 more genes
Specificity
3 %
Genes
100 %
Microcephaly and Pontocerebellar Hypoplasia Panel.

By CeGaT GmbH in Germany.

SLC25A19, RARS2, WDR62, DYNC1H1, VRK1, MCPH1, ASPM, MBD5, CENPJ, PQBP1, TSEN54, STIL, DYRK1A, PNKP, CASK, EXOSC3, TSEN34, TSEN2, CEP152, CDK5RAP2 , (...)

View the complete list with 16 more genes
Specificity
3 %
Genes
100 %
Selected Genetic Syndromes with skeletal involvement Panel.

By CeGaT GmbH in Germany.

RECQL4, LMX1B, FGFR3, CREBBP, FGFR2, CDKN1C, CENPJ, SALL1, CEP152, PCNT, ATR, GDF6, SH3PXD2B, DNA2, FGF10, SALL4, TBX5, EP300, RBBP8, GDF3 , (...)

View the complete list with 22 more genes
Specificity
3 %
Genes
100 %
Neurology: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

UBE3A, ADSL, TUBB3, CC2D2A, TMEM67, NPHP1, ADGRV1, CEP290, SHH, POLG, SLC25A19, MECP2, LIAS, GAMT, GATM, STXBP1, TUBA1A, RARS2, CTSD, SLC25A22 , (...)

View the complete list with 144 more genes
Specificity
1 %
Genes
100 %
NIN.

By Fulgent Genetics Fulgent Genetics in United States.

NIN
Specificity
100 %
Genes
100 %
Caris MI TumorSeek 592-Gene NGS Panel.

By Caris Life Sciences in United States.

BRCA1, BRCA2, VHL, APC, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, FOXL2, HNF1A, PPARG, COL1A1, WT1, RB1, SDHAF2 , (...)

View the complete list with 571 more genes
Specificity
1 %
Genes
100 %
SYNDROME DE SECKEL: NGS PANEL.

By Laboratorio de Genetica Clinica SL in Spain.

CENPJ, CEP152, ATR, DNA2, RBBP8, CEP63, NIN
Specificity
15 %
Genes
100 %
Primary Autosomal Recessive Microcephalies and Seckel Syndrome Spectrum Disorders: gene sequencing panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

WDR62, MCPH1, ASPM, CENPJ, STIL, CEP152, CDK5RAP2, ATR, RBBP8, PHC1, CDK6, CEP135, KNL1, CEP63, NIN, ATRIP
Specificity
7 %
Genes
100 %


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