multiple congenital anomalies-hypotonia-seizures syndrome 3

Term ID

DOID:0080140

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

MIM: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 Pages

Alliance (1)

Genes Involved

Zebrafish Models