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Human Disease

multiple congenital anomalies-hypotonia-seizures syndrome 2

Term ID
DOID:0080139
Synonyms
  • developmental and epileptic encephalopathy 20
Definition
A multiple congenital anomalies-hypotonia-seizures syndrome that is characterized by X-linked recessive inheritance of dysmorphic features, neonatal hypotonia, myoclonic seizures and variable abnormalities involving the central nervous, cardiac, and urinary systems that has_material_basis_in mutation in the PIGA gene on chromosome Xp22. (2)
References
Ontology
Human Disease   ( DOID:0080139 )
Relationships
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Genes Involved
Zebrafish Models