Cbl C defect

Supplementary Table 1: Scoring of presenting features and severity scores at diagnosis and during the course

Parameters / Minimum score / Maximum score
Antenatal damage / 0 / 2
·  Small for gestational age
·  Dysmorphic features / 0 (no)
0 (no) / 1 (yes)
1 (yes)
Nutritional symptoms
·  Failure to thrive
·  Feeding difficulties / 0
0 (no)
0 (no) / 2
1 (yes)
1 (yes)
General development
·  Developmental delay
·  Mental retardation / 0
0 (no)
0 (no) / 2
1 (yes)
1 (yes)
Neurological symptoms
·  Lethargy
·  Spasticity
·  Hypotonia / weakness
·  Seizures
·  Nystagmus
·  Myelopathy / 0
0 (no)
0 (no)
0 (no)
0 (no)
0 (no)
0 (no) / 6
1 (yes)
1 (yes)
1 (yes)
1 (yes)
1 (yes)
1 (yes)
Eye-related symptoms
·  Optic atrophy
·  Pigmentary retinopathy
·  Visual impairment
·  Strabismus / 0
0 (no)
0 (no)
0 (no)
0 (no) / 4
1 (yes)
1 (yes)
1 (yes)
1 (yes)
Renal involvement
·  Mild signs of renal involvement (proteinuria,
hematuria, hemolysis)
·  Hemolytic uremic syndrome / 0
0 (no)
0 (no) / 2
1 (yes)
1 (yes)
Cardiomyopathy (dilated or hypertrophic) / 0 (no) / 1 (yes)
Macrocytic anemia / 0 (no) / 1 (yes)
Brain/CNS MRI
·  Atrophy
·  White matter abnormalities
·  Basal ganglia lesions
·  Hydrocephalus
·  Myelopathy / 0
0 (no)
0 (no)
0 (no)
0 (no)
0 (no) / 5
1 (yes)
1 (yes)
1 (yes)
1 (yes)
1 (yes)
Overall impression(rated by treating physician)
·  Mental status
·  Visual impairment
·  Motor development
·  Quality of life / Minimum 0
0 normal
0 normal
0 normal
0 normal / Median 4
1 moderately
impaired
1 moderately
impaired
1 moderately
impaired
1 moderately
impaired / Maximum 8
2 severely impaired
2 severely impaired
2 severely impaired
2 severely impaired

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