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HOXA1 and developmental delay are reported together in 1 article.

Gene

HOXA1

16articles

16mentions

0variants with confirmed gene link

Most co-reported phenotypes (articles)

Phenotype

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.

1 records shown · first 60

PMID 22950449 | DOI 10.3109/13816810.2012.718850 · Ophthalmic genetics · 2013 · 7 validated mentions

Evidence preview

Type	Entity	Source evidence	Confidence	Extractor
gene	HOXA1	“Partial chromosome 7 duplication with a phenotype mimicking the HOXA1 spectrum disorder.”	0.98	hgnc_dict_v1
phenotype	developmental delay	“However, he also had developmental delay, mild mental retardation, and seizures.”	0.98	phenotype_alias_lexicon_v2
gene	PTPRN2	“HOXA1 sequencing was normal, but arrayCGH revealed a small partial duplication of chromosome 7 encompassing only the PTPRN2 gene (protein tyrosine phosphatase, receptor type, N polypeptide 2) that was not present in his parents, an unaffected brother, or 53 normal ethnically-matched individuals.”	0.98	hgnc_dict_v1
phenotype	hearing loss	“RESULTS: The proband had bilateral Duane retraction syndrome (DRS) with severe hearing loss bilaterally and an absent right vertebral artery, mimicking the major features of the Bosley-Salih-Alorainy variant of the HOXA1 spectrum.”	0.98	phenotype_alias_lexicon_v2