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GTR Home > Conditions/Phenotypes > Developmental and epileptic encephalopathy, 9

Developmental and epileptic encephalopathy, 9

Synonyms
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION; Early infantile epileptic encephalopathy 9; JUBERG-HELLMAN SYNDROME; PCDH19-Related X-Linked Female-Limited Epilepsy with Mental Retardation
Modes of inheritance
Unknown inheritance (Orphanet)

Summary

Developmental and epileptic encephalopathy-9 (DEE9) is an X-linked disorder characterized by seizure onset in infancy and mild to severe intellectual impairment. Autistic and psychiatric features have been reported in some individuals. The disorder affects heterozygous females only; transmitting males are unaffected (summary by Jamal et al., 2010). For a general phenotypic description and a discussion of genetic heterogeneity of developmental and epileptic encephalopathy, see 308350. [from OMIM]

Available tests

88 tests are in the database for this condition.

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Clinical tests (88 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: DEE9, EFMR, EIEE9, PCDH19
    Summary: protocadherin 19

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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