Epi-cblC | Canonical-cblCa | |
---|---|---|
Number of reported cases | 11 (this study) | 169 |
Eating disorders/failure to gain weight | ||
Small for gestational age | ++ [2 Pts] | + |
Feeding difficulties, failure to thrive | ++++ [9 Pts] | +++ |
Nervous system | ||
Decreased consciousness and/or apnoea | ++++ [7 Pts] | ++ |
Seizures | +++ [5 Pts] | +++ |
Ataxia | − | + |
Movement disorder and/or abnormal muscle tone | ++++ [9 Pts] | +++ |
Peripheral neuropathy/subacute degeneration of spinal cord | (+) | ++ |
Hydrocephalus | − | ++ |
Visual impairment (retinopathy, optic atrophy) | ++++ [9 Pts] | +++ |
Developmental disorder/cognitive impairment | ++++ [8 Pts] | +++ |
Behavioural/mental disorders | ++ [2 Pts] | ++ |
Microcephaly | (+) | ++ |
Blood and bone marrow | ||
Megaloblastic anaemia | +++ [5 Pts] | ++ |
Pancytopenia/neutropenia | (+) | ++ |
Recurrent severe infections | +++ [4 Pts] | (+) |
Kidneys | ||
Haemolytic uraemic syndrome | ++ [2 Pts] | ++ |
Glomerulopathy | − | + |
Tubulointerstitial nephropathy | − | + |
Cardiopulmonary | ||
Cardiac malformation | ++ [2 Pts] | + |
Cardiomyopathy | (+) | ++ |
Interstitial pneumonia | − | + |
Pulmonary hypertension | − | + |
Vascular | ||
Stroke | (+) | (+) |
Venous thrombosis/embolism | (+) | + |
Malformations | ||
Facial dysmorphism | ++ [2 Pts] | + |
Skeletal deformity | +++ [3 Pts] | (+) |
Gastrointestinal | ||
Cheilitis/gastritis | (+) | − |
Liver steatosis | − | + |
Skin | ||
Dermatitis/rash/hyperpigmentation | − | + |
Other | ||
Hydrops foetalis | − | + |
Metabolic acidosis and/or hyperammonaemia | +++ [5 Pts] | + |
Temperature instability/hypothermia | (+) | + |