AP4M1
HGNC:574 · SaudiVarKB evidence summary derived from retained literature mentions.
2Gene mentions
2Publications
2Linked variants
4Associated phenotypes
Associated phenotypes
Co-mentioned in AP4M1 publications| Phenotype | Identifier | Articles | Mentions |
|---|---|---|---|
| intellectual disability | HP:0001249 | 2 | 2 |
| developmental delay | HP:0001263 | 2 | 2 |
| epilepsy | HP:0001250 | 1 | 1 |
| hearing loss | HP:0000365 | 1 | 1 |
Linked variants
Variants normalized to AP4M1| Variant | HGVS / rsID | Articles | Mentions |
|---|---|---|---|
| c.953G>A | c.953G>A | 1 | 1 |
| p.Arg318Gln | p.Arg318Gln | 1 | 1 |
Population context
Reported in the same publications| Country / region | Group | Cohort | Articles |
|---|---|---|---|
| Not specified | — | — | 1 |
| Not specified | — | 156 | 1 |
Supporting publications
2 records- 2024Identification of novel homozygous variants in FOXE3 and AP4M1 underlying congenital syndromic anophthalmia and microphthalmia.The journal of gene medicinePubMed ↗
- 2020Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia.Brain : a journal of neurologyPubMed ↗