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Every result shows the extracted entities next to the sentences that support them; rows for the searched entities come first.
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Phenotype
Developmental delay
- HPO
- HP:0001263
480articles
480mentions
12co-reported genes shown
Most co-reported genes (articles)
Counts are literature co-mentions in SaudiVarKB, not clinical or causal assertions. Gene details: HGNC; variant status: ClinVar via dbSNP.
Publications
1 records shown · first 60Profound biotinidase deficiency in a child with predominantly spinal cord disease.
PMID 18645204 | DOI 10.1177/0883073808318062 · Journal of child neurology · 2008 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| phenotype | developmental delay | “Biotinidase deficiency is an autosomal recessively inherited disorder that manifests during childhood with various cutaneous and neurological symptoms particularly seizures, hypotonia, and developmental delay.” | 0.98 | phenotype_alias_lexicon_v2 |
| variant | H447Y | “DNA mutation analysis revealed that he was homozygous for a novel missense mutation (C>T1339;H447Y) in the BTD gene.” | 0.82 | literature_variant_regex_v2 |
| gene | BTD | “DNA mutation analysis revealed that he was homozygous for a novel missense mutation (C>T1339;H447Y) in the BTD gene.” | 0.98 | hgnc_dict_v1 |
| phenotype | epilepsy | “Biotinidase deficiency is an autosomal recessively inherited disorder that manifests during childhood with various cutaneous and neurological symptoms particularly seizures, hypotonia, and developmental delay.” | 0.93 | phenotype_alias_lexicon_v2 |