ZFIN Human Disease: multiple congenital anomalies-hypotonia-seizures syndrome 3

OBO ID: DOID:0080140

Term Name:	multiple congenital anomalies-hypotonia-seizures syndrome 3		Search Ontology:
Synonyms:	light fixation seizure syndrome M syndrome
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 that has_material_basis_in homozygous or compound heterozygous mutation in the PIGT gene on chromosome 20q13. (2)
References:	OMIM:615398
Ontology:	Human Disease ( DOID:0080140 )

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 3 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
PIGT	pigt	Multiple congenital anomalies-hypotonia-seizures syndrome 3	615398

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None