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Table 1 Clinic of siblings

From: Homozygous TBC1 domain-containing kinase (TBCK) mutation causes a novel lysosomal storage disease – a new type of neuronal ceroid lipofuscinosis (CLN15)?

  Patient 1 Patient 2
Age of onset 4 months 10 months
Age of death 7 years 11 years
Cause of death
 Respiratory failure + +
Main symptons
 Severe Hypotonia + +
 Global developmental delay + +
 Intellectual disability + +
 Generalized onset seizures + +
 Reduced visual acuity +
 Blindness +
Appearance
 Undersize + +
 Underweight +
 Short neck + +
 Facial dysmorphia + +
 Open mouth + +
 Tented upper lip + +
 Macroglossia + +
 Furrowed tongue + +
 Unilateral esotropia + +