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Lissencephaly due to LIS1 mutation

Synonyms
Isolated Lissencephaly Sequence

Summary

Excerpted from the GeneReview: PAFAH1B1-Related Lissencephaly / Subcortical Band Heterotopia
PAFAH1B1-related lissencephaly / subcortical band heterotopia (SBH) comprises a spectrum of severity. Affected newborns typically have mild-to-moderate hypotonia, feeding difficulties, and poor head control. During the first years, neurologic examination typically demonstrates poor visual tracking and response to sounds, axial hypotonia, and mild distal spasticity that can transition over time to more severe spasticity. Seizures occur in more than 90% of individuals with lissencephaly and often include infantile spasms. Seizures are often drug resistant, but even with good seizure control, the best developmental level achieved (excluding the few individuals with partial lissencephaly) is the equivalent of about age three to five months. In individuals with PAFAH1B1-related lissencephaly/SBH, developmental delay ranges from mild to severe. Other findings in PAFAH1B1-related lissencephaly/SBH include feeding issues and aspiration (which may result in need for gastrostomy tube placement), progressive microcephaly, and occasional developmental regression.
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:
Stefanie Brock
William B Dobyns
Anna Jansen
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Clinical tests (64 available)

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  • Also known as: LIS1, LIS2, MDCR, MDS, NudF, PAFAH, PAFAH1B1
    Summary: platelet activating factor acetylhydrolase 1b regulatory subunit 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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