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Lissencephaly type 1 due to doublecortin gene mutation

Synonyms
DCX-Related Disorders; DCX-Related Lissencephaly; LISSENCEPHALY, X-LINKED, 1; Lissencephaly and agenesis of corpus callosum; Lissencephaly, X-linked
Modes of inheritance
X-linked recessive inheritance (Orphanet)

Summary

Excerpted from the GeneReview: DCX-Related Disorders
DCX-related disorders include the neuronal migration disorders: Classic thick lissencephaly (more severe anteriorly), usually in males. Subcortical band heterotopia (SBH), primarily in females. Males with classic DCX-related lissencephaly typically have early and profound cognitive and language impairment, cerebral palsy, and epileptic seizures. The clinical phenotype in females with SBH varies widely with cognitive abilities that range from average or mild cognitive impairment to severe intellectual disability and language impairment. Seizures, which frequently are refractory to anti-seizure medication, may be either focal or generalized and behavioral problems may also be observed. In DCX-related lissencephaly and SBH the severity of the clinical manifestation correlates roughly with the degree of the underlying brain malformation as observed in cerebral imaging.
Full text of GeneReview (by section):
Summary
GeneReview Scope
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Ute Hehr
Gökhan Uyanik
Ludwig Aigner
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Available tests

87 tests are in the database for this condition.

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Clinical tests (87 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: DBCN, DC, LISX, SCLH, XLIS, DCX
    Summary: doublecortin

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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