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Table 1 Summary of the clinical presentation of patients with mutations

From: Clinical and whole-exome sequencing findings in two siblings from Hani ethnic minority with congenital glycosylation disorders

 The probandThe younger sibling
Age at last reported assessment91 Months19 Months
Birth weight (Kg)2.9NA
Delayed motor skills++
Muscular hypotonia++
Strabismus++
Underdeveloped cerebellum+NA
Blood clotting disorders+
Intellectual disability+
Failure to gain weight or thrive++
Feeding difficulties
Speech delay / absence++
Febrile seizures+
Seizures / epilepsy
Dysmorphic facies
Abnormalities of the hands or feetNormalNormal
Abnormalities of the spine or chestNormalNormal
Gastrointestinal symptomsNormalNormal
CardiacNormalNormal
Blood platelets21 × 109/LNA
CTUnnormalNA
  1. NA Not available