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. The clinical diagnosis can be confirmed by molecular testing such as exome sequencing.
Hyperphosphatasia with mental retardation syndrome
Malignant infantile osteopetrosis
Diffuse idiopathic skeletal hyperostosis
Normophosphatemic familial tumoral calcinosis
Gerodermia osteodysplastica
Bing–Neel syndrome
Autosomal dominant hypophosphatemic rickets
MDP syndrome