ZFIN Human Disease: multiple congenital anomalies-hypotonia-seizures syndrome 1

OBO ID: DOID:0080138

Term Name:	multiple congenital anomalies-hypotonia-seizures syndrome 1		Search Ontology:
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:	OMIM: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 multiple congenital anomalies-hypotonia-seizures syndrome 1 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
PIGN	pign	Multiple congenital anomalies-hypotonia-seizures syndrome 1	614080

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None