Smith-magenis Syndrome; Sms

Clinical Features

Top most frequent phenotypes and symptoms related to Smith-magenis Syndrome; Sms

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly
  • Scoliosis
  • Ataxia
  • Growth delay

And another 140 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 infantile onset, and infantile onset .

Alternative names

Smith-magenis Syndrome; Sms Is also known as chromosome 17p11.2 deletion syndrome.

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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Smith-magenis Syndrome; Sms Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Lissencephaly (NGS panel for 12 genes).

By CGC Genetics (Portugal).

YWHAE, NDE1, CDK5, ARX, POMT2, TUBA1A, DCX, KATNB1, LAMB1, PAFAH1B1, POMT1, RELN
Specificity
17 %
Genes
67 %
Miller-Dieker Lissencephaly Syndrome via YWHAE Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

YWHAE
Specificity
100 %
Genes
34 %
Lissencephaly panel.

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

YWHAE, NDE1, ARX, TUBA1A, DCX, PAFAH1B1, RELN
Specificity
29 %
Genes
67 %
Miller Dieker lissencephaly syndrome.

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

YWHAE
Specificity
100 %
Genes
34 %
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 %
Nuclear encoded Mitochondriopathies Panel.

By CeGaT GmbH (Germany).

RMRP, BCS1L, MRPL3, SACS, SCO1, SCO2, SDHA, SDHB, SDHC, SDHD, SLC19A2, SLC22A5, SLC25A1, SLC25A12, SLC25A13, SLC25A15, SLC25A3, SLC25A4, SLC6A8, BTD , (...)

View the complete list with 260 more genes
Specificity
1 %
Genes
34 %
Lissencephaly.

By Praxis fuer Humangenetik Wien (Austria).

YWHAE
Specificity
100 %
Genes
34 %
Lissencephaly.

By MedGene (Slovakia).

YWHAE
Specificity
100 %
Genes
34 %

We have 118 more panels available in our App

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like WHITE-SUTTON SYNDROME; WHSUS RENAL TUBULAR DYSGENESIS; RTD WAARDENBURG SYNDROME, TYPE 1; WS1 SOTOS SYNDROME HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2; HKLLS2 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2; EIEE2 THYROID CANCER, NONMEDULLARY, 1; NMTC1

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