Spastic Tetraplegia-thin Corpus Callosum-progressive Postnatal Microcephaly Syndrome

Description

Spastic tetraplegia, thin corpus callosum, and progressive microcephaly is an autosomal recessive neurodevelopmental disorder characterized by onset of those features and severely impaired global development in early infancy. Most patients are unable to achieve independent walking or speech; some patients have seizures (summary by Srour et al., 2015 and Heimer et al., 2015).

Clinical Features

Top most frequent phenotypes and symptoms related to Spastic Tetraplegia-thin Corpus Callosum-progressive Postnatal Microcephaly Syndrome

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Spasticity
  • Hyperreflexia
  • Hypoplasia of the corpus callosum
  • Cerebral atrophy
  • Absent speech

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.
No data available about the known clinical features onset.

Alternative names

Spastic Tetraplegia-thin Corpus Callosum-progressive Postnatal Microcephaly Syndrome Is also known as spastic quadriplegia-thin corpus callosum-progressive postnatal microcephaly syndrome, asct1 deficiency.

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.


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Spastic Tetraplegia-thin Corpus Callosum-progressive Postnatal Microcephaly Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
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 %
Mental retardation - different panels.

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

RGS7, RIT1, RMRP, BCS1L, RPL10, RPS6KA3, RRAS, SALL1, SC5D, ATXN10, BLM, SCN1A, SCN2A, SCN8A, SCO2, AIMP1, SDCCAG8, SDHA, SDHB, SGSH , (...)

View the complete list with 845 more genes
Specificity
1 %
Genes
100 %
Neurogenetic Disorders - panels.

By MGZ Medical Genetics Center (Germany).

BCS1L, RTN2, RYR1, SACS, SCN1A, SCN1B, SCN2A, SCN8A, SCO1, SCO2, AIMP1, SDHA, SDHB, SDHC, SDHD, SGCE, SLC16A2, SLC17A5, SLC19A2, SLC1A3 , (...)

View the complete list with 572 more genes
Specificity
1 %
Genes
100 %
Developmental delay and microcephaly, SLC1A4 related.

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

SLC1A4
Specificity
100 %
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 %
Hereditary spastic paraplegia (HSP), autosomal recessive and X-linked Panel.

By CeGaT GmbH (Germany).

SLC1A4, SPG11, SPG7, TFG, ERLIN2, ABHD12, CCT5, PNPLA6, GJC2, REEP2, SPART, GBA2, DDHD1, TECPR2, SPG21, CYP2U1, ZFYVE26, HACE1, FA2H, AP5Z1 , (...)

View the complete list with 23 more genes
Specificity
3 %
Genes
100 %
SLC1A4.

By Fulgent Genetics Fulgent Genetics (United States).

SLC1A4
Specificity
100 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM ORPHANET Rare Disease Search Engine

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