Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay; Iddmssd

Clinical Features

Top most frequent phenotypes and symptoms related to Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay; Iddmssd

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Failure to thrive
  • Strabismus
  • Cognitive impairment
  • Feeding difficulties
  • Macrocephaly
  • Tremor
  • Frontal bossing

And another 14 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.

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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Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay; Iddmssd Recommended genes panels

Panel Name, Specifity and genes Tested/covered
PAK1.

By Fulgent Genetics Fulgent Genetics (United States).

PAK1
Specificity
100 %
Genes
100 %
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 , (...)

View the complete list with 555 more genes
Specificity
1 %
Genes
100 %
Tempus xO assay.

By Tempus Labs, Inc. (United States).

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

View the complete list with 1627 more genes
Specificity
1 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Search Engine

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