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

Table 1 Summary of the clinical presentation of patients with mutations

	The proband	The younger sibling
Age at last reported assessment	91 Months	19 Months
Birth weight (Kg)	2.9	NA
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 feet	Normal	Normal
Abnormalities of the spine or chest	Normal	Normal
Gastrointestinal symptoms	Normal	Normal
Cardiac	Normal	Normal
Blood platelets	21 × 10⁹/L	NA
CT	Unnormal	NA

ISSN: 1471-2350