Neurodevelopmental Disorder With Dysmorphic Facies And Distal Limb Anomalies; Neddfl

Description

NEDDFL is a neurodevelopmental disorder characterized by delayed psychomotor development and intellectual disability, poor growth with small head size, dysmorphic facial features, and mild abnormalities of the hands and feet (summary by Stankiewicz et al., 2017).

Clinical Features

Top most frequent phenotypes and symptoms related to Neurodevelopmental Disorder With Dysmorphic Facies And Distal Limb Anomalies; Neddfl

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

And another 22 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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Neurodevelopmental Disorder With Dysmorphic Facies And Distal Limb Anomalies; Neddfl Recommended genes panels

Panel Name, Specifity and genes Tested/covered
BPTF.

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Specificity
100 %
Genes
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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 , (...)

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Specificity
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Genes
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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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