Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis; Idddfp

Description

Intellectual developmental disorder with dysmorphic facies and ptosis is an autosomal dominant neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, delayed language, and dysmorphic facial features, most notably ptosis/blepharophimosis. Additional features may include poor growth, hypotonia, and seizures (summary by Mattioli et al., 2017).See also chromosome 3p deletion syndrome (OMIM ).

Clinical Features

Top most frequent phenotypes and symptoms related to Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis; Idddfp

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly
  • Growth delay
  • Hypertelorism
  • Strabismus
  • Abnormal facial shape

And another 33 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.


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Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis; Idddfp Recommended genes panels

Panel Name, Specifity and genes Tested/covered
BRPF1.

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Genes
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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 Search Engine

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