[3] Mabry syndrome was confirmed[4] to represent an autosomal recessive syndrome characterized by severe mental retardation, considerably elevated serum levels of alkaline phosphatase, hypoplastic terminal phalanges, and distinct facial features that include: hypertelorism, a broad nasal bridge and a rectangular face.

While many cases of HPMRS are caused by mutations in the PIGV gene,[5] there may be genetic heterogeneity in the spectrum of Mabry syndrome as a whole.

[citation needed] The clinical diagnosis can be established if the patient has repeatedly elevated levels of alkaline phosphatase activity in the blood serum and exhibits intellectual disability.

Supportive for the clinical diagnosis are epilepsies, brachydactyly and a characteristic facial gestalt, which can also be assessed by means of AI.

A mouse model that mirrors the human phenotype has been engineered by CRISPR technology and is available for compound screening.