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STAMBP and developmental delay are reported together in 2 articles.
Gene
STAMBP
- HGNC
- HGNC:16950
5articles
5mentions
0variants with confirmed gene link
Most co-reported phenotypes (articles)
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 60Microcephaly-capillary malformation syndrome: Brothers with a homozygous STAMBP mutation, uncovered by exome sequencing.
PMID 27531570 | DOI 10.1002/ajmg.a.37845 · American journal of medical genetics. Part A · 2016 · 5 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | STAMBP | “Microcephaly-capillary malformation syndrome: Brothers with a homozygous STAMBP mutation, uncovered by exome sequencing.” | 0.98 | hgnc_dict_v1 |
| phenotype | developmental delay | “We describe two brothers from a consanguineous family of Egyptian ancestry, presenting with microcephaly, apparent global developmental delay, seizures, spasticity, congenital blindness, and multiple cutaneous capillary malformations.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | epilepsy | “We describe two brothers from a consanguineous family of Egyptian ancestry, presenting with microcephaly, apparent global developmental delay, seizures, spasticity, congenital blindness, and multiple cutaneous capillary malformations.” | 0.93 | phenotype_alias_lexicon_v2 |
| population | Population | “We describe two brothers from a consanguineous family of Egyptian ancestry, presenting with microcephaly, apparent global developmental delay, seizures, spasticity, congenital blindness, and multiple cutaneous capillary malformations.” | 0.80 | saudi_context_rules_v1 |
The microcephaly-capillary malformation syndrome in two brothers with novel clinical features.
PMID 25266620 | DOI 10.1016/j.pediatrneurol.2014.07.006 · Pediatric neurology · 2014 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | STAMBP | “Recently, mutations in the STAMBP gene have been identified as causative in the pathogenesis of this syndrome.” | 0.98 | hgnc_dict_v1 |
| phenotype | developmental delay | “BACKGROUND: Microcephaly-capillary malformation syndrome is a newly described neurocutaneous entity that is characterized by congenital and progressive microcephaly, intractable epilepsy, profound developmental delay, multiple small capillary malformations on the skin, and poor somatic growth.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | epilepsy | “BACKGROUND: Microcephaly-capillary malformation syndrome is a newly described neurocutaneous entity that is characterized by congenital and progressive microcephaly, intractable epilepsy, profound developmental delay, multiple small capillary malformations on the skin, and poor somatic growth.” | 0.98 | phenotype_alias_lexicon_v2 |
| population | Saudi Arabia | “PATIENTS: We describe two brothers (ages 7 and 12 years) from consanguineous parents of Saudi ancestry.” | 0.95 | saudi_context_rules_v1 |