Cerebral Palsy, Spastic Quadriplegic, 2; Cpsq2

Clinical Features

Top most frequent phenotypes and symptoms related to Cerebral Palsy, Spastic Quadriplegic, 2; Cpsq2

  • Intellectual disability
  • Generalized hypotonia
  • Nystagmus
  • Muscular hypotonia
  • Ventriculomegaly
  • Cerebral atrophy
  • Neonatal hypotonia
  • Neurodegeneration
  • Tetraplegia
  • Brain atrophy

And another 2 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— The onset for some of the known clinical features related to this disease may vary, including congenital 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.

Cerebral Palsy, Spastic Quadriplegic, 2; Cpsq2 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Inherited congenital spastic tetraplegia (sequence analysis of KANK1 gene).

By CGC Genetics (Portugal).

KANK1
Specificity
100 %
Genes
100 %
Inherited congenital spastic tetraplegia (sequence analysis of KANK1 gene).

By CGC Genetics (Portugal).

KANK1
Specificity
100 %
Genes
100 %
Nephrotic Syndrome (NS)/Focal Segmental Glomerulosclerosis (FSGS) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

SGPL1, SMARCAL1, TRPC6, WT1, NPHS2, ANLN, CD2AP, TP53RK, ACTN4, SCARB2, PLCE1, XPO5, OSGEP, NUP205, CRB2, MAGI2, COQ8B, KANK1, COQ6, COL4A3 , (...)

View the complete list with 29 more genes
Specificity
3 %
Genes
100 %
Nephrotic Syndrome via KANK1 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

KANK1
Specificity
100 %
Genes
100 %
Hereditary kidney disorders - different panels.

By Institute of Human Genetics Uniklinik RWTH Aachen (Germany).

BCS1L, ROBO2, CNNM2, CFB, SALL1, ATXN10, SCNN1A, SCNN1B, SCNN1G, SDCCAG8, SDHA, SDHB, SDHC, SDHD, BMP4, BMP7, SGPL1, SIX1, SIX2, SIX5 , (...)

View the complete list with 386 more genes
Specificity
1 %
Genes
100 %
Cerebral palsy type 2, spastic quadriplegic.

By Centogene AG - the Rare Disease Company (Germany).

KANK1
Specificity
100 %
Genes
100 %
AllNeuro panel.

By Centogene AG - the Rare Disease Company (Germany).

BCS1L, ROR2, RPL10, BDNF, RPS6KA3, RTN2, RYR1, SACS, BIN1, SBF1, SCN10A, SCN1A, SCN1B, SCN2A, SCN3A, SCN4A, SCN5A, SCN8A, SCN9A, SCO1 , (...)

View the complete list with 1177 more genes
Specificity
1 %
Genes
100 %
Hereditary Spastic Paraplegias (HSP) and differential diagnoses Panel.

By CeGaT GmbH (Germany).

RTN2, SACS, AIMP1, SLC16A2, SLC1A4, SLC25A15, SOD1, SOX10, SPG11, ATL1, SPAST, SPG7, SPR, STUB1, TARDBP, TFG, TH, UBQLN2, VAMP1, VAPB , (...)

View the complete list with 122 more genes
Specificity
1 %
Genes
100 %

You can get up to 2 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

MESH OMIM Rare Disease Search Engine

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