Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder; Chdfidd

Clinical Features

Top most frequent phenotypes and symptoms related to Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder; Chdfidd

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Growth delay
  • Hypertelorism
  • Strabismus
  • Spasticity
  • Ptosis

And another 24 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.

Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder; Chdfidd Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Congenital Structural Heart Disease Panel.

By Blueprint Genetics (Finland).

BMPR2, SOS2, TBX1, TBX20, TBX5, TFAP2B, TLL1, ZIC3, ACTA2, ACTB, ADAMTS10, NSD1, ACTC1, ACTG1, CRELD1, CBL, GATA5, SALL4, ZFPM2, TAB2 , (...)

View the complete list with 42 more genes
Specificity
2 %
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 %

You can get up to -6 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

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