Clinical, genetic, and molecular characterization of hyperphosphatasia with mental retardation: a case report and literature review

Table 1 Summary of the Clinical data comparing previously reported cases of PAPG3 with our two current cases

Clinical Data	Current case report	Previous Cases Reported (26) [1, 20, 24]
Consanguinity	2/2	16/26
Cleft Palate	2/2	17/26
Postnatal Microcephaly	2/2	8/26
Short Stature	2/2	2/26
Seizures	2/2	17/26
Coarse Facies	2/2	26/26
Developmental Delay	2/2	26/26
Speech Delay	2/2	26/26
High ALP level (relative to age)	2/2	26/26
Hyperactive & Autistic Behavior	2/2	14/26
Congenital Heart Defects	1/2	2/26
Clinodactyly	2/2	0/26
Small teeth	0/2	1/26
Hypodontia	2/2	0/26
Hyperpigmentation(Incontinentia Pigmenti)	2/2	0/26

In bold font are the new clinical features that were not previously reported in any case of the mutation

ISSN: 1746-1596