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GTR Home > Conditions/Phenotypes > Developmental and epileptic encephalopathy, 2

Developmental and epileptic encephalopathy, 2

Synonyms
Early infantile epileptic encephalopathy 2; INFANTILE SPASM SYNDROME, X-LINKED 2
Modes of inheritance
X-linked dominant inheritance (Orphanet)

Summary

Excerpted from the GeneReview: CDKL5 Deficiency Disorder
CDKL5 deficiency disorder (CDD) is a developmental and epileptic encephalopathy (DEE) characterized by severe early-onset intractable epilepsy and motor, cognitive, visual, and autonomic disturbances. Movement disorders include chorea, dystonia, and stereotypical hand and leg movements. Although females are more commonly affected than males (female-to-male ratio is approximately 4:1), the severity of manifestations in heterozygous females and hemizygous males can be equivalent. However, the severity of the phenotype can vary depending on the type and position of the CDKL5 pathogenic variant, pattern of X-chromosome inactivation in females, and presence of postzygotic mosaicism in males or females, who can have mild manifestations.
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:
Tim A Benke
Scott Demarest
Katie Angione
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Available tests

93 tests are in the database for this condition.

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Clinical tests (93 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CFAP247, DEE2, EIEE2, ISSX, STK9, CDKL5
    Summary: cyclin dependent kinase like 5

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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