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Skraban-Deardorff syndrome

Synonyms
INTELLECTUAL DISABILITY WITH SEIZURES, ABNORMAL GAIT, AND DISTINCTIVE FACIAL FEATURES

Summary

Excerpted from the GeneReview: WDR26-Related Intellectual Disability
WDR26-related intellectual disability (ID) is characterized by developmental delay / intellectual disability, characteristic facial features, hypotonia, epilepsy, and infant feeding difficulties. To date 15 individuals, ages 24 months to 34 years, have been reported. Developmental delay is present in all individuals and ranges from mild to severe. All individuals have delayed speech. Although some begin to develop speech in the second year, others have remained nonverbal. Seizures, present in all affected individuals reported to date, can be febrile or non-febrile (tonic-clonic, absence, rolandic seizures); most seizures are self limited or respond well to standard treatment. Affected individuals are generally described as happy and socially engaging; several have stereotypies / autistic features (repetitive or rocking behavior, abnormal hand movements or posturing, and at times self-stimulation).
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Cara M Skraban
Katheryn L Grand
Matthew A Deardorff
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Available tests

8 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (8 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CDW2, GID7, MIP2, SKDEAS, WDR26
    Summary: WD repeat domain 26

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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