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Human Disease

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
Ontology
Human Disease   ( DOID:0080140 )
Relationships
is a type of
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Genes Involved
Zebrafish Models