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multiple congenital anomalies-hypotonia-seizures syndrome 1

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 PIGN gene.
Uniprot Description An autosomal recessive disorder characterized by neonatal hypotonia, lack of psychomotor development, seizures, dysmorphic features, and variable congenital anomalies involving the cardiac, urinary, and gastrointestinal systems. Most affected individuals die before 3 years of age.
Disease Ontology Description A multiple congenital anomalies-hypotonia-seizures syndrome that is characterized by neonatal hypotonia, lack of psychomotor development, seizures, dysmorphic features, and variable congenital anomalies involving the cardiac, urinary, and gastrointestinal systems and has_material_basis_in homozygous mutation in the PIGN gene on chromosome 18q21.
Mondo Term and Equivalent IDs
MONDO:0013563:  multiple congenital anomalies-hypotonia-seizures syndrome 1
GARD:0012781: 
Orphanet:280633: 
UMLS:C3279775: