Rahman Syndrome; Rmns

Description

Rahman syndrome is characterized by mild to severe intellectual disability associated with variable somatic overgrowth manifest as increased birth length, height, weight, and/or head circumference. The overgrowth is apparent in infancy and may lessen with time or persist. The phenotype is highly variable; some individuals may have other minor anomalies, including dysmorphic facial features, strabismus, or camptodactyly. The disorder is thought to result from a defect in epigenetic regulation (summary by Tatton-Brown et al., 2017).

Clinical Features

Top most frequent phenotypes and symptoms related to Rahman Syndrome; Rmns

  • Intellectual disability
  • Global developmental delay
  • Strabismus
  • Abnormal facial shape
  • Macrocephaly
  • Talipes equinovarus
  • Hypertonia
  • Abnormality of the dentition
  • Kyphoscoliosis
  • Neonatal hypotonia

And another 10 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 neonatal 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.

Rahman Syndrome; Rmns Recommended genes panels

Panel Name, Specifity and genes Tested/covered
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SF3B1, BRAF, BTK, MED12, TP53, TRAF2, XPO1, ZMYM3, IKZF3, CARD11, POT1, CDKN2A, HIST1H1E, HIST1H1B, BIRC3, IRF4, KRAS, MAP2K1, MYD88, NOTCH1 , (...)

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Specificity
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Specificity
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Tempus xT assay.

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Specificity
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Genes
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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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Specificity
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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

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