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