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BTD and developmental delay are reported together in 2 articles.
Gene
BTD
- HGNC
- HGNC:1122
6articles
6mentions
2variants with confirmed gene link
Most co-reported phenotypes (articles)
Reported variants (articles · ClinVar status)
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
2 records shown · first 60Biotinidase Deficiency: Report of a Tunisian Case With Neuromyelitis Optica-Like Presentation and Review of the Literature.
PMID 40171223 | PMCID PMC11961292 | DOI 10.1155/crnm/7003370 · Case reports in neurological medicine · 2025 · 3 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | BTD | “Biotinidase deficiency is a rare treatable metabolic disorder caused by biallelic mutations in the BTD gene.” | 0.98 | hgnc_dict_v1 |
| phenotype | developmental delay | “In the absence of neonatal screening and treatment, affected children develop typically optic atrophy, hypotonia, early onset seizures, developmental delay, and cutaneous manifestations.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | epilepsy | “In the absence of neonatal screening and treatment, affected children develop typically optic atrophy, hypotonia, early onset seizures, developmental delay, and cutaneous manifestations.” | 0.93 | phenotype_alias_lexicon_v2 |
Profound 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 |
|---|---|---|---|---|
| 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 | 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 |
| 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 |
| 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 |