Clinical profile of our patient compared to the previously reported cases
| Jaeken et al8 | Ramaekers et al11 | This case | ||||
| Ethnic origin | Belgian | Iranian | French | |||
| Consanguineous parents | ||||||
| Birth weight | 3250 g | ? | 3050 g | |||
| Birth length | 50 cm | 48 cm | ||||
| Head circumference | 35 cm | 35 cm | ||||
| Presenting symptom | Hypotonia at birth | Developmental delay | Feeding difficulties | |||
| Diarrhoea at 3 months | ||||||
| Method of diagnosis | Investigation of the coagulation | ? | Investigation of the coagulation | |||
| Age at diagnosis | 9.5 y | 3 y | 11 y | |||
| Neurological symptoms | ||||||
| Developmental delay | Severe | Severe | Severe | |||
| A few steps without support | Generalised hypotonia | No speech at 11 | ||||
| Monotonous sounds | Unstable gait | |||||
| Epilepsy | Yes, at 6 | Yes | No | |||
| Abnormal behaviour | Stereotypic | Hand washing movement | No | |||
| Neuropathy | No | No | No | |||
| Cerebellar hypoplasia | No | No | No | |||
| Failure to thrive | + After 2 y | + | + | |||
| L 3rd centile | L 3rd–10th centile | L<−4 SD | ||||
| W 3rd centile | W 3rd–10th centile | W<−2.5 SD | ||||
| Gastrointestinal problems | Volvulus of the stomach | − | Chronic diarrhoea | |||
| Dysmorphic features | Coarse face | |||||
| Nose | Hooked | − | Beaked | |||
| Lips | Thin | − | Thin upper lip, | |||
| Everted lower lip | ||||||
| Ears | Large, dysplastic | Large, low set | Large | |||
| Gums | Hypertrophy | − | Hypertrophy | |||
| Teeth | Large | − | Large | |||
| Mandible | Prognathism | − | − | |||
| Neck | Short | − | Short | |||
| Thorax | − | − | Pectus excavatum | |||
| − | Widely spaced nipples | Widely spaced nipples | ||||
| Kyphoscoliosis | − | Kyphosis | ||||
| Cardiac defect | Ventricular septal defect | Ventricular septal defect | − | |||
| ERG | ? | ? | Altered | |||
| Mutation | A1467G/A1467G | C1551T/C1551T | A952G/T1017A | |||