Phenotype of the 21 patients studied
| Patient | |||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | 2 | 3 | 4 | 5 | 6 | 7 | 8 | 9 | 10 | 11 | 12 | 13 | 14 | 15 | 16 | 17 | 18 | 19 | 20 | 21 | |
| Age at assessment (y) | 1.3 | 2.3 | o | 4.5 | 6.5 | 18 | o | 19 | 5 | o | 3 | 5 | 10 | 4 | 6 | 7 | 7 | 10.5 | 3 | 1 | 8 |
| Birth weight (g) | 2700 | 3100 | o | 2600 | o | 3200 | o | 3400 | o | o | o | 2400 | 2900 | 3100 | 3900 | 3300 | 2400 | 4000 | 3400 | 3200 | 3100 |
| Facial | |||||||||||||||||||||
| Microcephaly | + | + | + | + | + | + | − | − | + | o | + | − | + | + | + | − | − | + | + | + | − |
| Epicanthic folds | + | + | + | + | + | + | o | − | + | − | + | − | − | + | + | + | − | + | + | + | − |
| Flat nasal bridge | + | + | + | + | + | + | + | − | − | + | + | + | − | + | − | + | + | + | − | o | − |
| Midface hypoplasia | + | o | + | − | + | + | − | + | − | + | + | o | + | o | + | + | + | + | + | + | + |
| Small, triangular nose | + | + | + | + | − | + | + | − | − | − | + | o | − | o | − | − | − | + | + | o | − |
| Anteverted nostrils | + | + | + | + | + | + | + | − | − | − | + | o | + | o | − | − | − | + | + | o | − |
| Triangular mouth | + | + | + | + | + | + | + | − | o | − | + | o | + | o | − | + | + | + | + | o | + |
| Widely spaced incisors | + | + | + | + | + | + | + | + | − | − | − | o | + | o | + | + | o | − | + | o | + |
| Abnormal ears | + | + | + | + | + | − | + | + | − | + | + | o | − | + | + | − | − | + | + | + | − |
| Astigmatism/strabismus | − | o | o | + | + | + | o | − | + | − | + | + | + | + | o | + | o | + | o | o | o |
| Genital | |||||||||||||||||||||
| Cryptorchidism or high lying testes | − | + | − | + | − | + | + | − | + | − | − | + | − | − | + | − | − | + | + | + | + |
| Hypospadias | − | − | − | − | − | − | − | − | − | − | + | − | − | + | − | − | − | − | − | − | − |
| Skeletal | |||||||||||||||||||||
| Clino-/camptodactyly | + | + | − | o | + | − | o | − | − | − | − | + | − | + | + | + | o | − | − | o | + |
| Syndactyly | − | − | − | o | + | − | o | − | − | − | + | − | − | o | − | − | o | + | − | o | − |
| Brachydactyly | − | − | − | o | − | − | o | − | − | − | − | + | − | o | o | − | o | − | − | + | − |
| Polydactyly | − | − | − | − | − | − | o | − | − | − | − | − | − | o | − | − | o | − | − | + | − |
| Joint hyperlaxity | − | o | + | + | + | − | o | − | − | − | − | − | o | o | − | o | o | − | o | o | − |
| Hb H inclusions | + | + | + | − | + | + | − | o | − | o | − | − | − | + | − | − | + | − | − | − | o |
| Neurological | |||||||||||||||||||||
| Severe mental retardation | + | + | + | + | + | + | + | + | + | + | + | + | + | + | + | + | + | + | + | + | + |
| Seizures | − | − | − | + | o | + | − | + | − | − | − | + | + | o | + | − | − | − | o | − | + |
| Cortical atrophy | + | − | + | o | − | − | − | − | − | o | − | − | − | o | − | + | − | − | + | o | − |
| Hypotonia | + | + | + | + | + | + | + | + | + | o | + | + | + | o | + | + | o | + | + | + | o |
| Miscellaneous | |||||||||||||||||||||
| Vomiting/reflux | + | + | − | + | o | o | o | − | − | − | − | + | + | o | + | + | − | − | o | o | − |
| Severe constipation | + | + | − | − | o | o | o | − | o | − | − | − | + | o | + | − | − | − | + | o | − |
| Hearing loss | − | − | − | + | − | − | − | − | + | − | − | − | + | o | o | o | o | + | o | o | − |
| Mutation | + | + | + | + | + | + | − | − | − | − | − | − | − | − | − | − | − | − | − | − | − |
+ = present, − = absent, o = data not available.