Table 1

Clinical profile of our patient compared to the previously reported cases

Jaeken et al8 Ramaekers et al11 This case
Ethnic originBelgianIranianFrench
Consanguineous parents
Birth weight3250 g?3050 g
Birth length50 cm48 cm
Head circumference35 cm35 cm
Presenting symptomHypotonia at birthDevelopmental delayFeeding difficulties
Diarrhoea at 3 months
Method of diagnosisInvestigation of the coagulation?Investigation of the coagulation
Age at diagnosis9.5 y3 y11 y
Neurological symptoms
 Developmental delaySevereSevereSevere
A few steps without supportGeneralised hypotoniaNo speech at 11
Monotonous soundsUnstable gait
 EpilepsyYes, at 6YesNo
 Abnormal behaviourStereotypicHand washing movementNo
 NeuropathyNoNoNo
 Cerebellar hypoplasiaNoNoNo
Failure to thrive+ After 2 y++
L 3rd centileL 3rd–10th centileL<−4 SD
W 3rd centileW 3rd–10th centileW<−2.5 SD
Gastrointestinal problemsVolvulus of the stomachChronic diarrhoea
Dysmorphic featuresCoarse face
 NoseHookedBeaked
 LipsThinThin upper lip,
Everted lower lip
 EarsLarge, dysplasticLarge, low setLarge
 GumsHypertrophyHypertrophy
 TeethLargeLarge
 MandiblePrognathism
 NeckShortShort
 ThoraxPectus excavatum
Widely spaced nipplesWidely spaced nipples
KyphoscoliosisKyphosis
Cardiac defectVentricular septal defectVentricular septal defect
ERG??Altered
MutationA1467G/A1467GC1551T/C1551TA952G/T1017A