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CS and developmental delay are reported together in 1 article.
Gene
CS
- HGNC
- HGNC:2422
20articles
20mentions
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
1 records shown · first 60Infantile osteopetrosis, craniosynostosis, and Chiari malformation type I with novel OSTEM1 mutation.
PMID 23772242 | PMCID PMC3680893 | DOI 10.4103/1817-1745.111420 · Journal of pediatric neurosciences · 2013 · 2 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | CS | “We report a case of a 9-month-old Arab infant, with novel OSTEM mutation and unpublished triad of osteopetrosis (OP), craniosynostosis (CS), and Chiari malformation type I (CM1).” | 0.98 | hgnc_dict_v1 |
| phenotype | developmental delay | “The history revealed early onset of irritability, progressive visual loss, and global developmental delay, more prominent at the gross motor level and a suspected congenital cytomegalovirus infection.” | 0.98 | phenotype_alias_lexicon_v2 |