Sifrim-hitz-weiss Syndrome; Sihiwes

Description

Sifrim-Hitz-Weiss syndrome is an autosomal dominant intellectual disability syndrome associated with variable congenital defects affecting other systems, including cardiac, skeletal, and urogenital. Some patients may have short stature, enlarged head circumference, hearing loss, and nonspecific dysmorphic facial features (summary by Sifrim et al., 2016 and Weiss et al., 2016).

Clinical Features

Top most frequent phenotypes and symptoms related to Sifrim-hitz-weiss Syndrome; Sihiwes

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Hypertelorism
  • Abnormal facial shape
  • Cryptorchidism
  • Ptosis
  • Low-set ears

And another 35 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 .

Alternative names

Sifrim-hitz-weiss Syndrome; Sihiwes Is also known as sifrim-hitz-weiss multiple congenital anomalies-mental retardation 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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Sifrim-hitz-weiss Syndrome; Sihiwes Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Disorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection.

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ROR2, SALL1, BMP15, BMP4, SEMA3A, SEMA3E, BMP7, FOXL2, BRDT, SOS1, SOX10, SOX2, SOX3, SOX9, SRA1, SRD5A2, SRY, STAG3, STAR, AURKC , (...)

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Disorders of Sex Development (DSD) Sequencing Panel with CNV Detection.

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ROR2, SALL1, BMP15, BMP4, SEMA3A, BMP7, FOXL2, SOS1, SOX10, SOX2, SOX3, SOX9, SRD5A2, SRY, STAR, TAC3, TACR3, TBX15, HNF1B, MED12 , (...)

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1 %
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100 %
Ambiguous Genitalia Sequencing Panel with CNV Detection.

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CHD4.

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CHD4
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Congenital Structural Heart Disease Panel.

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Tempus xT assay.

By Tempus Labs, Inc. (United States).

BCL6, RIT1, BCL7A, BCR, ROS1, RPL5, RPS15, RPS6KB1, RUNX1, RXRA, BLM, SDHA, SDHB, SDHC, SDHD, SEC23B, SEMA3C, BMPR1A, SF3B1, SRSF2 , (...)

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Tempus xO assay.

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BCL6, RHEB, RIPK1, RIPK2, RIPK3, RIT1, BCL7A, BCL9, BCR, ROBO2, ROCK1, ROCK2, ROR1, ROR2, ROS1, RPA1, BDNF, RPL5, RPN1, RPS6KB1 , (...)

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Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

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