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References OMIM Gene GeneReviews HGMD HGNC
last update : 25-02-2016
Symbol MCAHS2
Location Xp22.2
Name multiple congenital anomalies-hypotonia-seizures syndrome 2
Other name(s) PIGA deficiency
Corresponding gene PIGA
Other symbol(s) PIGAD
Main clinical features
  • X-linked lethal disorder involving cleft palate, neonatal seizures, contractures, central nervous system (CNS) structural malformations
  • Pierre Robin sequence, prominent occiput, an enlarged fontanelle, depressed nasal bridge, a short, anteverted nose, gingival overgrowth, small mouth with downturned corners and a triangular shape and a short neck
  • hip, knee, and elbow contractures, broad palms with short fingers, and poor central tone with brisk reflexes, seizures
  • cranial MRI showed a thin corpus callosum, white-matter immaturity, no septum pellucidum, a dilated left lateral ventricle, and a small cerebellum
  • Genetic determination autosomal recessive
    Related entries including case of Simpson-Golabi-Behmel syndrome 2 (PMID: 26545172)
    Function/system disorder mental retardation
    Type disease
  • PIGA-null mutations are thought to be embryonic lethal
  • PIGA germline mutation c.1234C>T (p.Arg412*) leads to a clinical phenotype of Simpson-Golabi-Behmel syndrome 2 (PMID: 26545172))