Literature record
Early onset of Fazio-Londe syndrome: the first case report from the Arabian Peninsula.
PMID 28580161 | PMCID PMC5444338 | DOI 10.1038/hgv.2017.18 · Human genome variation · 2017
Fazio-Londe syndrome is a rare neurological disorder presenting with sensorineural deafness, bulbar palsy and respiratory compromise that is caused by mutation in the SLC52A3 gene, which encodes the intestinal (hRFT2) riboflavin transporter. We report a patient with early onset of Fazio-Londe syndrome as the first case report in Saudi Arabia with rapid regression to death at 24 months of age.
Source-grounded extraction
Validated evidence
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | SLC52A3 | “Fazio-Londe syndrome is a rare neurological disorder presenting with sensorineural deafness, bulbar palsy and respiratory compromise that is caused by mutation in the SLC52A3 gene, which encodes the intestinal (hRFT2) riboflavin transporter.” | 0.98 | hgnc_dict_v1 |
| phenotype | hearing loss | “Fazio-Londe syndrome is a rare neurological disorder presenting with sensorineural deafness, bulbar palsy and respiratory compromise that is caused by mutation in the SLC52A3 gene, which encodes the intestinal (hRFT2) riboflavin transporter.” | 0.93 | phenotype_alias_lexicon_v2 |
| population | Saudi Arabia | “We report a patient with early onset of Fazio-Londe syndrome as the first case report in Saudi Arabia with rapid regression to death at 24 months of age.” | 0.95 | saudi_context_rules_v1 |