Table 1.

Characteristics of patient samples.

Patient Nr.	Gene Defect	Sex	Life Stage 2	Clinical Phenotype
1	MGAT2	- 1	child	Intellectual disability (ID), microcephaly, dysmorphic features, failure to thrive
2	SLC35C1	F	child	ID, short stature, leucocyte adhesion deficiency
3	B4GALT1	F	child	Mild hepatomegaly, diarrhea, dysmorphic features, abnormal coagulation
4	B4GALT1	M	child
5	SLC35A1	F	adolescent	ID, ataxia, seizures, macrothrombocytopenia, proteinuria
6	MAN1B1	M	adolescent	ID, macrocephaly, truncal obesity, dysmorphic features
7	MAN1B1	M	adolescent
8	SLC35A2	F	toddler	ID, short stature, seizures, dysmorphic features
9	SLC35A2	M	toddler
10	ATP6V0A2	F	infant	ID, cutis laxa, dysmorphic features
11	ATP6V0A2	M	adolescent
12	COG5	M	infant	Skeletal dysplasia, dysmorphic features, cholestasis
13	TMEM199	M	child	Hypercholesterolemia, elevated aminotransferases and alkaline phosphatase
14	TMEM199	M	adult
15	CCDC115	F	child	Hypercholesterolemia, elevated aminotransferases and alkaline phosphatase, hepatomegaly, psychomotor retardation
16	CCDC115	M	child
17	VMA21	M	adolescent	Hypercholesterolemia, elevated aminotransferases, steatosis
18	VMA21	M	adult	Myopathy
19	ATP6AP1	M	child	Jaundice, elevated aminotransferases, low immunoglobulins
20	ATP6AP1	M	adolescent	Jaundice, elevated aminotransferases, low immunoglobulins, hepatosplenomegaly
Healthy controls	-	6 F/4 M	3–58 (18) yrs 3	-

¹ Unknown. ² Infant (<1 yrs), toddler (1–3 yrs), child (3–10 yrs), adolescent (10–19 yrs) and adult (>19 yrs). ³ Min–Max (median).