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	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	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	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 34326751 | PMCID PMC8299399 | DOI 10.1159/000516319 · Case reports in neurology · 2021 · 4 validated mentions

Evidence preview

Type	Entity	Source evidence	Confidence	Extractor
gene	SERAC1	“The serine active site-containing 1 (SERAC1) mutation is localized at the mitochondria-associated membranes, which are responsible for encoding a phosphatidylglycerol remodeler essential for both mitochondrial function and intracellular cholesterol trafficking and is thus responsible for the disease.”	0.98	hgnc_dict_v1
phenotype	developmental delay	“MEGDEL 3-methylglutaconic (MG) aciduria, deafness, encephalopathy, Leigh-like syndrome is an autosomal recessive disorder associated with infantile hypoglycemia, progressive psychomotor developmental delay, cerebellar atrophy with lesions in the basal ganglia, spasticity, dystonia, deafness, and transient liver problems, which typically occur in the first year of life.”	0.98	phenotype_alias_lexicon_v2
phenotype	epilepsy	“Other clinical presentations include failure to thrive, epilepsy, and optic nerve atrophy.”	0.98	phenotype_alias_lexicon_v2
phenotype	hearing loss	“MEGDEL 3-methylglutaconic (MG) aciduria, deafness, encephalopathy, Leigh-like syndrome is an autosomal recessive disorder associated with infantile hypoglycemia, progressive psychomotor developmental delay, cerebellar atrophy with lesions in the basal ganglia, spasticity, dystonia, deafness, and transient liver problems, which typically occur in the first year of life.”	0.93	phenotype_alias_lexicon_v2

PMID 25642805 | DOI 10.1055/s-0034-1399755 · Neuropediatrics · 2015 · 3 validated mentions

Evidence preview

Type	Entity	Source evidence	Confidence	Extractor
gene	SERAC1	“Mutations are found in SERAC1, encoding a phosphatidylglycerol remodeling enzyme essential for both mitochondrial function and intracellular cholesterol trafficking.”	0.98	hgnc_dict_v1
phenotype	developmental delay	“MEGDEL syndrome (3-MethylGlutaconic aciduria, Deafness, Encephalopathy, Leigh-like syndrome MIM #614739) is a clinically and biochemically highly distinctive dystonia deafness syndrome accompanied by 3-methylglutaconic aciduria, severe developmental delay, and progressive spasticity.”	0.98	phenotype_alias_lexicon_v2
phenotype	hearing loss	“Eyes on MEGDEL: distinctive basal ganglia involvement in dystonia deafness syndrome.”	0.93	phenotype_alias_lexicon_v2

PMID 24997715 | PMCID PMC4221303 | DOI 10.1007/8904_2014_322 · JIMD reports · 2014 · 10 validated mentions

Evidence preview

Type	Entity	Source evidence	Confidence	Extractor
gene	SERAC1	“The Expanding MEGDEL Phenotype: Optic Nerve Atrophy, Microcephaly, and Myoclonic Epilepsy in a Child with SERAC1 Mutations.”	0.98	hgnc_dict_v1
phenotype	developmental delay	“We describe a patient of Saudi Arabian descent with 3-methylglutaconic aciduria, sensorineural hearing loss, encephalopathy, and Leigh-like pattern on MRI (MEGDEL syndrome), as well as developmental delay and developmental regression, bilateral optic nerve atrophy, microcephaly, and myoclonic epilepsy.”	0.98	phenotype_alias_lexicon_v2
phenotype	epilepsy	“The Expanding MEGDEL Phenotype: Optic Nerve Atrophy, Microcephaly, and Myoclonic Epilepsy in a Child with SERAC1 Mutations.”	0.98	phenotype_alias_lexicon_v2
phenotype	hearing loss	“We describe a patient of Saudi Arabian descent with 3-methylglutaconic aciduria, sensorineural hearing loss, encephalopathy, and Leigh-like pattern on MRI (MEGDEL syndrome), as well as developmental delay and developmental regression, bilateral optic nerve atrophy, microcephaly, and myoclonic epilepsy.”	0.98	phenotype_alias_lexicon_v2