U.S. flag

An official website of the United States government

GTR Home > Conditions/Phenotypes > Polyhydramnios, megalencephaly, and symptomatic epilepsy

Polyhydramnios, megalencephaly, and symptomatic epilepsy

Synonyms
PMSE SYNDROME
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

A rare genetic neurological disorder with characteristics of pregnancy complicated by polyhydramnios, severe intractable epilepsy presenting in infancy, severe hypotonia, decreased muscle mass, global developmental delay, craniofacial dysmorphism (long face, large forehead, peaked eyebrows, broad nasal bridge, hypertelorism, large mouth with thick lips), and macrocephaly due to megalencephaly and hydrocephalus in most patients. Additional features that have been reported include cardiac anomalies like atrial septal defects, diabetes insipidus and nephrocalcinosis among others. [from SNOMEDCT_US]

Available tests

9 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (9 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: LYK5, NY-BR-96, PMSE, STRAD, STRAD alpha, Stlk, STRADA
    Summary: STE20 related adaptor alpha

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

Show allHide all

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.