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ASNS and developmental delay are reported together in 3 articles.

Gene

ASNS

5articles

5mentions

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.

3 records shown · first 60

PMID 27422383 | PMCID PMC4947274 | DOI 10.1186/s12883-016-0633-0 · BMC neurology · 2016 · 6 validated mentions

Evidence preview

Type	Entity	Source evidence	Confidence	Extractor
gene	ASNS	“Hyperekplexia, microcephaly and simplified gyral pattern caused by novel ASNS mutations, case report.”	0.98	hgnc_dict_v1
phenotype	developmental delay	“BACKGROUND: Asparagine synthetase deficiency (OMIM# 615574) is a very rare newly described neurometabolic disorder characterized by congenital microcephaly and severe global developmental delay, associated with intractable seizures or hyperekplexia.”	0.98	phenotype_alias_lexicon_v2
phenotype	epilepsy	“BACKGROUND: Asparagine synthetase deficiency (OMIM# 615574) is a very rare newly described neurometabolic disorder characterized by congenital microcephaly and severe global developmental delay, associated with intractable seizures or hyperekplexia.”	0.93	phenotype_alias_lexicon_v2
population	Population	“Only 12 cases have been described to date. CASE PRESENTATION: Family 1 is a multiplex consanguineous family with five affected members, while Family 2 is simplex.”	0.80	saudi_context_rules_v1

PMID 27268761 | DOI 10.1016/j.pediatrneurol.2016.01.024 · Pediatric neurology · 2016 · 3 validated mentions

Evidence preview

Type	Entity	Source evidence	Confidence	Extractor
gene	ASNS	“Diagnosis is confirmed by findings of low cerebral spinal fluid or plasma asparagine in addition to a mutation of the subsequently in ASNS gene.”	0.98	hgnc_dict_v1
phenotype	developmental delay	“OBJECTIVE: Asparagine synthetase deficiency is an autosomal recessive neurometabolic disorder characterized clinically by severe congenital microcephaly, global developmental delay, intractable epilepsy, and motor impairment in the form of spastic quadriparesis.”	0.98	phenotype_alias_lexicon_v2
phenotype	epilepsy	“Worsening of Seizures After Asparagine Supplementation in a Child with Asparagine Synthetase Deficiency.”	0.93	phenotype_alias_lexicon_v2

PMID 25663424 | PMCID PMC4486270 | DOI 10.1007/8904_2014_405 · JIMD reports · 2015 · 4 validated mentions

Evidence preview

Type	Entity	Source evidence	Confidence	Extractor
gene	ASNS	“RESULTS: We identified a homozygous novel missense mutation in ASNS gene in both probands and we demonstrated low CSF and plasma asparagine in both patients.”	0.98	hgnc_dict_v1
phenotype	developmental delay	“BACKGROUND: Asparagine synthetase deficiency (ASD) is a newly identified neurometabolic disorder characterized by severe congenital microcephaly, severe global developmental delay, intractable seizure disorder, and spastic quadriplegia.”	0.98	phenotype_alias_lexicon_v2
phenotype	inborn error of metabolism	“Asparagine Synthetase Deficiency: New Inborn Errors of Metabolism.”	0.93	phenotype_alias_lexicon_v2
phenotype	epilepsy	“BACKGROUND: Asparagine synthetase deficiency (ASD) is a newly identified neurometabolic disorder characterized by severe congenital microcephaly, severe global developmental delay, intractable seizure disorder, and spastic quadriplegia.”	0.93	phenotype_alias_lexicon_v2