The association between AIFM1 (Apoptosis Inducing Factor Mitochondria Associated 1) and Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy is well established and manually curated, with its 5 contributing sources — 4 of them expert-curated — recording a known molecular basis, likely-pathogenic variants, and a causative germline mutation.
Sources5
Clinical variants18
Symptoms130
Compounds0
Trials0
Publications5
01
At a glance
Association overview
A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.
