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References OMIM Gene GeneReviews HGMD HGNC
last update : 11-09-2019
Symbol MCAHS
Location 18q21.33
Name multiple congenital anomalies-hypotonia-seizures syndrome
Corresponding gene PIGN
Other symbol(s) MCAHS1
Main clinical features
  • dysmorphic features and multiple congenital anomalies together with severe neurological impairment, chorea and seizures leading to early death
  • neonatal hypotonia, lack of psychomotor development, seizures, dysmorphic features, and variable congenital anomalies involving the cardiac, urinary, and gastrointestinal systems, nystagmus or wandering eyes, cardiovascular defects, such as patent foramen ovale or patent ductus arteriosus
  • Genetic determination autosomal recessive
    Related entries including cases of Fryns syndrome (FS) (severe forms)
    Function/system disorder mental retardation
    Type disease