Figure 1:

(a) Family pedigree, along with the Sanger validation and segregation next to each corresponding individual.

(b) Facial, hand, and genital images of the proband at the age of 4 years. Note sparse, lanugo-like scalp hair, sparse eyelashes and eyebrows, clinodactyly and micropenis.

(c) Brain MRI at 4ys old (T2W sagittal and axial cuts) showing thinning of the corpus collosum (black arrow), and mild superior cerebellar vermian volume loss (red arrows).

(d) Schematic representation of LSS gene (NM_002340) and of LSS protein (NP_002331); arrows point to the locations of the reported variants corresponding to each coding exon. Variants are color coded according to each phenotype sub-category as follows:

Red; Cataract 44, Purple; Cataract 44 + Hypotrichosis 14, Blue; Hypotrichosis 14, Black: Alopecia-intellectual disability syndrome (APMR), Orange; PPKCA2, and Green: PPK.

The current variants (c.14+2T>C) and (c.1357G>A:p.Val453Ile) are highlighted in red rectangles.