multiple congenital anomalies-hypotonia-seizures syndrome 1

Term ID

DOID:0080138

Synonyms

Definition

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. https://www.ncbi.nlm.nih.gov/pubmed/21493957

References

MIM:614080

Ontology

Human Disease ( DOID:0080138 )

Relationships

is a type of: autosomal recessive disease multiple congenital anomalies-hypotonia-seizures syndrome

autosomal recessive disease multiple congenital anomalies-hypotonia-seizures syndrome Show first 5 Terms

Other Pages

Alliance (1)

Genes Involved

Zebrafish Models