Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly; Spatccm

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, And Progressive Microcephaly; Spatccm

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


Mendelian

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Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly; Spatccm Recommended genes panels

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

By Institute of Human Genetics Cologne University in Germany.

FMR1, UBE3A, PTEN, MCCC1, MCCC2, ACAD9, PC, ANKH, HLCS, ATP7A, AUH, B4GALT7, BCKDHA, BCKDHB, BCS1L, C12orf65, ADSL, MMACHC, PRKCG, PAX6 , (...)

View the complete list with 847 more genes
Specificity
1 %
Genes
100 %
Neurogenetic Disorders - panels.

By MGZ Medical Genetics Center in Germany.

MTHFR, TTR, UBE3A, AARS2, ABHD12, ACAD9, ACADM, ACADS, AGL, ACADVL, YARS2, PC, UQCRQ, ARG1, UQCRB, ATP5F1E, ATP7B, ATPAF2, AUH, BCKDHA , (...)

View the complete list with 577 more genes
Specificity
1 %
Genes
100 %
Developmental delay and microcephaly, SLC1A4 related.

By Centogene AG - the Rare Disease Company in Germany.

SLC1A4
Specificity
100 %
Genes
100 %
Hereditary Spastic Paraplegias (HSP) and differential diagnoses Panel.

By CeGaT GmbH in Germany.

MTHFR, ABHD12, ARG1, ATP7A, AUH, C12orf65, PSEN1, OPTN, OPA1, GLB1, ELOVL4, HSPD1, GARS, AFG3L2, PANK2, OPA3, VCP, ALDH18A1, MTPAP, SPR , (...)

View the complete list with 123 more genes
Specificity
1 %
Genes
100 %
Hereditary spastic paraplegia (HSP), autosomal recessive and X-linked Panel.

By CeGaT GmbH in Germany.

ABHD12, C12orf65, ALDH18A1, SPG7, GAD1, GJC2, PLP1, ZFYVE26, SPG11, L1CAM, PNPLA6, KIF1A, CYP7B1, AP5Z1, FA2H, SPART, SPG21, ALS2, TFG, GAN , (...)

View the complete list with 24 more genes
Specificity
3 %
Genes
100 %
SLC1A4.

By Fulgent Genetics Fulgent Genetics in United States.

SLC1A4
Specificity
100 %
Genes
100 %

Alternate names

Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly; Spatccm Is also known as ;asct1 deficiency; spastic quadriplegia-thin corpus callosum-progressive postnatal microcephaly syndrome.


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