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multiple congenital anomalies-hypotonia-seizures syndrome 2

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description Any multiple congenital anomalies/dysmorphic syndrome-intellectual disability in which the cause of the disease is a mutation in the PIGA gene.
Uniprot Description An X-linked recessive developmental disorder characterized by dysmorphic features, neonatal hypotonia, myoclonic seizures, and variable congenital anomalies involving the central nervous, cardiac, and urinary systems. Most affected individuals die in infancy.
Disease Ontology Description A multiple congenital anomalies-hypotonia-seizures syndrome that is characterized by X-linked recessive inheritance of dysmorphic features, neonatal hypotonia, myoclonic seizures and variable abnormalities involving the central nervous, cardiac, and urinary systems that has_material_basis_in mutation in the PIGA gene on chromosome Xp22.
Mondo Term and Equivalent IDs
MONDO:0010466:  multiple congenital anomalies-hypotonia-seizures syndrome 2
GARD:0012777: 
Orphanet:300496: 
UMLS:C3275508: