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

• GARD:12777
• OMIM:300868
• ORDO:300496

Ontology

Human Disease   ( DOID:0080139 )