Prader-willi Syndrome Due To A Point Mutation

Description

SHFYNG syndrome is an autosomal dominant multisystem disorder characterized by delayed psychomotor development, intellectual disability (ID), hypotonia, and behavioral abnormalities. Additional features include contractures, feeding difficulties, and variable dysmorphic facial features. The severity of the disorder is highly variable: some patients may die in utero with fetal akinesia, whereas others can live with moderate disability. Individuals are affected only if the mutation occurs on the paternal allele, since MAGEL2 is a maternally imprinted gene (summary by Fountain et al., 2017)

Clinical Features

Top most frequent phenotypes and symptoms related to Prader-willi Syndrome Due To A Point Mutation

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Hypertelorism
  • Strabismus
  • Abnormal facial shape
  • Cryptorchidism

And another 78 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

Prader-willi Syndrome Due To A Point Mutation Is also known as schaaf-yang syndrome, pws due to a point mutation, pwls, prader-willi-like syndrome.

Researches and researchers

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Prader-willi Syndrome Due To A Point Mutation Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Schaff-Yang (MAGEL2) Sequencing.

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

MAGEL2
Specificity
100 %
Genes
100 %
Monogenic Obesity Sequencing Panel.

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

SDCCAG8, SIM1, UCP3, ARL6, TRIM32, AFF4, PHF6, SETD2, BBS7, TTC8, IFT74, VPS13B, CUL4B, PRMT7, BBS10, BBS12, WDPCP, CEP290, KIDINS220, BBS9 , (...)

View the complete list with 18 more genes
Specificity
3 %
Genes
100 %
MAGEL2 sequencing.

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

MAGEL2
Specificity
100 %
Genes
100 %
Monogenic Obesity Deletion/Duplication Panel.

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

SDCCAG8, SIM1, UCP3, ARL6, TRIM32, AFF4, PHF6, SETD2, BBS7, TTC8, IFT74, VPS13B, CUL4B, PRMT7, BBS10, BBS12, WDPCP, CEP290, KIDINS220, BBS9 , (...)

View the complete list with 18 more genes
Specificity
3 %
Genes
100 %
Schaaf-Yang syndrome (sequence analysis of MAGEL2 gene).

By CGC Genetics (Portugal).

MAGEL2
Specificity
100 %
Genes
100 %
Schaaf-Yang syndrome (deletion/duplication analysis of MAGEL2 gene).

By CGC Genetics (Portugal).

MAGEL2
Specificity
100 %
Genes
100 %
Schaaf-Yang syndrome (sequence analysis of MAGEL2 gene).

By CGC Genetics (Portugal).

MAGEL2
Specificity
100 %
Genes
100 %
Schaaf-Yang syndrome (deletion/duplication analysis of MAGEL2 gene).

By CGC Genetics (Portugal).

MAGEL2
Specificity
100 %
Genes
100 %

We have 19 more panels available in our App

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Sources and references

You can check the following sources for additional information.

ORPHANET OMIM Genetic Syndrome Finder

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