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Metadata
ID DOID:0080139
Name multiple congenital anomalies-hypotonia-seizures syndrome 2
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.
https://www.ncbi.nlm.nih.gov/pubmed/10441586, https://www.ncbi.nlm.nih.gov/pubmed/22305531
Xrefs

GARD:12777

OMIM:300868

ORDO:300496

Alternateids

DOID:0080466

Synonyms

early infantile epileptic encephalopathy 20 [EXACT]

glycosylphosphatidylinositol biosynthesis defect 4 [EXACT]

Parent Relationships

is_a multiple congenital anomalies-hypotonia-seizures syndrome

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