Intellectual Developmental Disorder With Gastrointestinal Difficulties And High Pain Threshold; Iddgip

Description

IDDGIP is an autosomal dominant syndromic neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability with speech delay, and behavioral abnormalities. Most patients have variable additional features, including feeding and gastrointestinal difficulties, high pain threshold and/or hypersensitivity to sound, and dysmorphic features, including mild facial abnormalities, strabismus, and small hands and feet (summary by Jansen et al., 2017).

Clinical Features

Top most frequent phenotypes and symptoms related to Intellectual Developmental Disorder With Gastrointestinal Difficulties And High Pain Threshold; Iddgip

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Strabismus
  • Abnormal facial shape
  • Pain
  • Low-set ears
  • Feeding difficulties
  • Delayed speech and language development

And another 26 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.)
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.

Intellectual Developmental Disorder With Gastrointestinal Difficulties And High Pain Threshold; Iddgip Recommended genes panels

Panel Name, Specifity and genes Tested/covered
PPM1D.

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RUNX1, SDHB, SDHC, SDHD, BMPR1A, BRCA1, BRCA2, STK11, EPCAM, TERC, TERT, TP53, TP53BP1, VHL, WT1, XRCC2, CDH1, CDK4, CDKN2A, CEBPA , (...)

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Specificity
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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 Genetic Syndrome Finder

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