Table 1

Clinical manifestations of CDG-Ia due to the R141H/F119L PMM2 genotype

Manifestations No./total tested %
Gastrointestinal symptoms
Feeding difficulties23/23100
Vomiting19/23 83
Diarrhoea12/23 52
Nasogastric tube/gastrostomy11/2348
Neurological manifestations
Cerebellar atrophy18/20 90
Afebrile seizures13/23 57
Febrile seizures21/2391
Stroke like episode12/23 52
Hypotonia23/23100
Ataxia23/23 100
Peripheral muscular atrophy23/23 100
Psychomotor retardation23/23 100
Absent tendon reflexes 23/23 100
Neurogenic hearing impairment3/933
Hepatic dysfunction
Enlarged liver11/23 48
Increased transaminases23/23 100
Coagulation abnormalities23/23 100
Episode of bleeding8/23 35
Episode of ascites6/23 26
Episode of thromboemboli1/23 6
Cardiac involvement
Pericardial effusion10/19 52
Dysmorphic features
Inverted nipples23/23 100
Abnormal fat distribution21/23 91
Congenital joint restriction12/23 53
Hernia/hydrocele/retentio testis10/12 boys83
Esotropia23/23 100
Skeletal abnormalities
Kyphoscoliosis11/23 48
Thorax deformity20/23 87
Fracture due to minimal trauma6/23 26