The cover image is based on the Original Article Phenotypic delineation of the retinal arterial macroaneurysms with supravalvular pulmonic stenosis syndrome by Hisham Alkuraya et al., https://doi.org/10.1111/cge.13676.

COL1-relatedoverlap disorder: a novel connective tissue disorder incorporating theosteogenesis imperfecta/Ehlers-Danlos syndrome overlap.

A large amount of LMWP combined with positive gene test results can be used as the diagnostic criteria for this disease.

There is evidence of a female carrier phenotype in the majority of XLID conditions. Sixty-seven percent of XLID conditions have an associated phenotype in female carriers, with reduced cognition function as part of the phenotype in 91% of these conditions. For 31% of XLID conditions, there is no reported phenotypic expression in female carriers. XLID, X-linked intellectual disability.

Biallelic sorting nexin 27 (SNX27) variants (top panel) are associated with seizures, developmental delay, intellectual disability, behavioral disturbance, and subcortical white matter abnormalities (bottom panel, white arrows). Severe variants (Damseh et al) can lead to early lethality, while missense variants (Patient I and Patient II) can be associated with late survival.

Retinal arterial macroaneurysms with supravalvular pulmonic stenosis (RAMSVPS).

Estimated model with standardized regression weights (N = 416, *P < .05, **P < .01, ***P < .001).

We describe the first case of hereditary spastic paraplegia (HSP) caused by a novel de novo (p.L337P) variant in ATP1A1. Evidences for the causative role of this variant are provided through functional and homology modeling studies. This finding expands the phenotypic spectrum of the ATP1A1-related disorders, adds a small piece to the large genetic puzzle of HSP and increases knowledge on the molecular mechanisms underlying inherited axonopathies.