All XLPDR probands shared the same unique intronic variant mapping to intron 13 of POLA1, (NM_016937.3:c.1375-354A>G). XLPDR lacks allelic heterogeneity, meaning that the<unk>  is uniquely associated with the NM_016937.3:c.1375-354A>G intronic variant. The final diagnosis usually requires PCR or WGS confirmation.
X-linked reticulate pigmentary disorder
Pure hair-nail type ectodermal dysplasia
Oculocutaneous albinism
Linear atrophoderma of Moulin
Yemenite deaf-blind hypopigmentation syndrome
Spastic ataxia-corneal dystrophy syndrome
Oculocutaneous albinism type I
Aromatic L-amino acid decarboxylase deficiency