Summary of clinical findings in 11 reported PHA homozygotes from the literature
| Patient | Sex | Age (years) | Mental retardation | Macrocephaly | Seizures | Congenital skeletal defects | Additional findings | Reason for investigation | Reference |
|---|---|---|---|---|---|---|---|---|---|
| f, female; m, male; +, reported to be present; −, not reported to be present, absent. | |||||||||
| 1 | f | 2.5 | + (mild) | − | + (familial) | − | mild short stature | retardation | 8 |
| 2 | m | 30 | − | − | − | − | − | fever and flu | 9 |
| 3 | f | 46 | − | − | − | − | − | climacteric complaints | 10 |
| 4 | m | 56 | − | − | − | − | − | bronchitis | 11 |
| 5 | m | 56 | − | − | − | − | arthrosis | pneumonia | 11 |
| 6 | f | 10 | + (mild) | + | − | − | − | acute meningitis | 20 |
| 7 | f | 1.5 | − | − | + | + (familial) post-axial polydactyly of one hand and both feet | − | Seizures | 12 |
| 8 | f | 82 | − | − | − | − | − | cardiac complaints | 21 |
| 9 | m | ? | − | − | − | − | − | brother of patient no 8 | 21 |
| 10 | m | 30 | − | − | − | − | mild short stature, slightly short arms, dyshidrosis hyperkyphosis | Fuuij-0ever | 13, 22 |
| 11 | m | 16 | + | + | − | +short metacarpal 3–5 of both hands | hypotonia, VSD, poor co-ordination | Retardation | 4, 14 |
| total | 5f/6m | 1.5–82 | 3/11 | 2/11 | 2/11 | 2/11:variable | 2/11:short stature | 4/11: infection | |