Type	Entity	Source evidence	Confidence	Extractor
gene	SERAC1	“MEGDEL syndrome, a rare autosomal recessive disorder characterized by 3-methylglutaconic aciduria, deafness, encephalopathy, and Leigh-like syndrome, results from mutations in the SERAC1 gene.”	0.98	hgnc_dict_v1
phenotype	intellectual disability	“The patient, born to consanguineous parents, presented with developmental delay, cerebral palsy, intellectual disability, and seizures.”	0.98	phenotype_alias_lexicon_v2
phenotype	developmental delay	“The patient, born to consanguineous parents, presented with developmental delay, cerebral palsy, intellectual disability, and seizures.”	0.98	phenotype_alias_lexicon_v2
phenotype	hearing loss	“MEGDEL syndrome, a rare autosomal recessive disorder characterized by 3-methylglutaconic aciduria, deafness, encephalopathy, and Leigh-like syndrome, results from mutations in the SERAC1 gene.”	0.93	phenotype_alias_lexicon_v2

PMID 29205472 | PMCID PMC5847115 | DOI 10.1002/ana.25110 · Annals of neurology · 2017 · 3 validated mentions

Evidence preview

Type	Entity	Source evidence	Confidence	Extractor
gene	SERAC1	“Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases.”	0.98	hgnc_dict_v1
phenotype	intellectual disability	“Seventy-nine percent suffered hearing loss, 58% never learned to speak, and nearly all had significant intellectual disability (88%).”	0.98	phenotype_alias_lexicon_v2
phenotype	hearing loss	“Seventy-nine percent suffered hearing loss, 58% never learned to speak, and nearly all had significant intellectual disability (88%).”	0.98	phenotype_alias_lexicon_v2