Intellectual Disability-seizures-abnormal Gait-facial Dysmorphism Syndrome

Description

Skraban-Deardorff syndrome is a neurodevelopmental disorder characterized by delayed psychomotor development with variable intellectual disability, early-onset seizures, and characteristic dysmorphic facial features comprising coarse facies with a prominent maxilla and upper lip revealing the upper gingiva, widely-spaced teeth, and a broad nasal tip (summary by Skraban et al., 2017).

Clinical Features

Top most frequent phenotypes and symptoms related to Intellectual Disability-seizures-abnormal Gait-facial Dysmorphism Syndrome

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Micrognathia
  • Strabismus
  • Abnormal facial shape
  • Feeding difficulties
  • Delayed speech and language development
  • Depressed nasal bridge

And another 23 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.

Alternative names

Intellectual Disability-seizures-abnormal Gait-facial Dysmorphism Syndrome Is also known as intellectual disability with seizures, abnormal gait, and distinctive facial features, skraban-deardorff syndrome.

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 Disability-seizures-abnormal Gait-facial Dysmorphism Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Cornelia de Lange Syndrome and Cornelia de Lange Syndrome-Related Disorders Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

SMARCA4, SMARCB1, SMARCE1, ARID1A, SMC1A, SOX11, TAF1, TAF6, MED12, HDAC8, CTCF, SRCAP, AFF4, ARID1B, PHF6, DOCK6, CHD7, WDR26, ANKRD11, CREBBP , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
100 %
Skraban-Deardorff syndrome Comprehensive test.

By Connective Tissue Gene Tests (United States).

WDR26
Specificity
100 %
Genes
100 %
Skraban-Deardorff syndrome Deletion / Duplication test.

By Connective Tissue Gene Tests (United States).

WDR26
Specificity
100 %
Genes
100 %
Skraban-Deardorff syndrome NGS test.

By Connective Tissue Gene Tests (United States).

WDR26
Specificity
100 %
Genes
100 %
Comprehensive Epilepsy Panel.

By Blueprint Genetics (Finland).

SCN1A, SCN1B, SCN2A, SCN8A, SCN9A, SCO1, AIMP1, ST3GAL3, ST3GAL5, SLC25A1, SLC25A15, SLC2A1, SLC35A2, SLC6A1, SLC6A8, SLC9A6, KDM5C, SMS, SNAP25, SIK1 , (...)

View the complete list with 263 more genes
Specificity
1 %
Genes
100 %

We have -3 more panels available in our App

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Sources and references

You can check the following sources for additional information.

OMIM ORPHANET Rare Disease Symptoms Checker

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