has material basis in germline mutation in PIGA syndromic disease ferro-cerebro-cutaneous syndrome https://github.com/monarch-initiative/mondo/issues/5349 https://github.com/monarch-initiative/mondo/issues/6651 https://www.malacards.org/card/neurodevelopmental_disorder_with_epilepsy_and_hemochromatosis OMIM:301072 MONDO:0018346 Orphanet:397922 cerebro-cutaneous syndrome with iron overload MEDGEN:1658844 UMLS:C4751570 FCCS This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'endocrine system disorder' (MONDO:0005151) ontology branch (https://orcid.org/0000-0001-9310-0163) Ferro-cerebro-cutaneous syndrome is a rare, genetic, metabolic liver disease characterized by progressive neurodegeneration, cutaneous abnormalities, including varying degrees of ichthyosis or seborrheic dermatitis, and systemic iron overload. Patients manifest with infantile-onset seizures, encephalopathy, abnormal eye movements, axial hypotonia with peripheral hypertonia, brisk reflexes, cortical blindness and deafness, myoclonus and hepato/splenomegaly, as well as oral manifestations, including microdontia, widely spaced and pointed teeth with delayed eruption, and gingival overgrowth. GARD:0021637 inborn errors of metabolism inherited neurodegenerative disorder