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1 records shown · first 60The Expanding MEGDEL Phenotype: Optic Nerve Atrophy, Microcephaly, and Myoclonic Epilepsy in a Child with SERAC1 Mutations.
PMID 24997715 | PMCID PMC4221303 | DOI 10.1007/8904_2014_322 · JIMD reports · 2014 · 10 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | c.442C>T | “Whole exome sequencing revealed two loss-of-function mutations in SERAC1 in trans: c.438delC (p.T147Rfs*22) and c.442C>T (p.R148X), confirmed by Sanger sequencing.” | 0.95 | hgvs_regex_v1 |
| 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 | 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 | 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 |