1. Mendelian
  2. Rare Diseases
  3. MYASTHENIC SYNDROME, CONGENITAL, 21, PRESYNAPTIC; CMS21

Myasthenic Syndrome, Congenital, 21, Presynaptic; Cms21

Table of contents:

Genes related to Myasthenic Syndrome, Congenital, 21, Presynaptic; Cms21

  • SLC18A3

View recommended genes panels

Clinical Features

Top most frequent phenotypes and symptoms related to Myasthenic Syndrome, Congenital, 21, Presynaptic; Cms21

  • Generalized hypotonia
  • Nystagmus
  • Muscle weakness
  • Ptosis
  • Flexion contracture
  • Feeding difficulties
  • Fatigue
  • Respiratory insufficiency
  • Difficulty walking
  • Facial palsy

And another 4 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.)
— 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.

Myasthenic Syndrome, Congenital, 21, Presynaptic; Cms21 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Congenital Contractures Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

SKI, SLC18A3, TNNI2, TNNT3, TPM2, TPM3, UBA1, ZMPSTE24, ACTA1, ADGRG6, SLC5A7, KLHL41, FKBP10, NEK9, NALCN, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE , (...)

View the complete list with 37 more genes
Specificity
2 %
Genes
100 %
SLC18A3.

By Fulgent Genetics Fulgent Genetics (United States).

SLC18A3
Specificity
100 %
Genes
100 %
MYASTHENIC SYNDROME, CONGENITAL NGS PANEL.

By Laboratorio de Genetica Clinica SL (Spain).

SCN4A, SLC18A3, SYT2, SLC5A7, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE, COL13A1, COLQ, GMPPB, ALG2, DOK7, ALG14, DPAGT1, AGRN, GFPT1, LAMC1, LRP4 , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

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