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GENATLAS PHENOTYPE

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
	metabolism/carbohydrates
	neurology
Type	disease

Remark(s)

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))