Synaptic Congenital Myasthenic Syndromes

Clinical Features

Top most frequent phenotypes and symptoms related to Synaptic Congenital Myasthenic Syndromes

  • Intellectual disability
  • Global developmental delay
  • Scoliosis
  • Muscle weakness
  • Abnormal facial shape
  • Muscular hypotonia
  • Ptosis
  • High palate
  • Skeletal muscle atrophy
  • Dysphagia

And another 44 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.

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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Synaptic Congenital Myasthenic Syndromes Recommended genes panels

Panel Name, Specifity and genes Tested/covered
LAMB2 DNA Sequencing Test.

By Athena Diagnostics Inc (United States).

LAMB2
Specificity
100 %
Genes
50 %
Early Onset Nephrotic Syndrome Evaluation.

By Athena Diagnostics Inc (United States).

WT1, NPHS2, PLCE1, LAMB2, NPHS1
Specificity
20 %
Genes
50 %
Anterior segment defects.

By Medical Genetics Laboratory, Kennedy Center Juliane Marie Center, Rigshospitalet (Denmark).

PORCN, B3GLCT, COL4A1, CYP1B1, EYA1, FOXC1, FOXE3, KERA, LAMB2, PAX2, PAX6, PITX2, PITX3
Specificity
8 %
Genes
50 %
Neuromuscular Disorders Sequencing Panel.

By Genetic Services Laboratory University of Chicago (United States).

RYR1, BIN1, SCN4A, SGCA, SGCB, SGCD, SGCG, SNAP25, STIM1, SYT2, TCAP, TNNT1, TNXB, TPM2, TPM3, MYOT, TTN, VCP, ACTA1, RXYLT1 , (...)

View the complete list with 91 more genes
Specificity
2 %
Genes
100 %
Exome PLUS Proteinuria/FSGS & Hematuria.

By Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine (United States).

CFB, TRPC6, TSC1, TSC2, C1QA, C1QC, WT1, C3, NPHS2, ADAMTS13, ACTN4, PLCE1, CLCN5, COL4A3, COL4A4, COL4A5, INF2, DGKE, ALMS1, GLA , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
50 %
LAMB2. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

LAMB2
Specificity
100 %
Genes
50 %
LAMB2. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

LAMB2
Specificity
100 %
Genes
50 %
Nephrotic syndrome type 5 (sequence analysis of LAMB2 gene).

By CGC Genetics (Portugal).

LAMB2
Specificity
100 %
Genes
50 %

We have 78 more panels available in our App

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Sources and references

You can check the following sources for additional information.

ORPHANET Genetic Syndrome Finder

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