Table 1.

Characteristics of the 11 known patients with ALG9-CDG.

Feature	Frank et al. [4]	Weinstein et al. [12]	Vleugels et al. [11]	Tham et al. [10], Patient 1	Tham et al. [10], Patient 2	Tham et al. [10], Patient 3	AlSubhi et al. [1], Patient 1	AlSubhi et al. [1], Patient 2	AlSubhi et al. [1], Patient 3	AlSubhi et al. [1], Patient 4	Davis et al. [2]
Sex	Female	Female	Female	Female	Male	Female	Female	Male	Female	Male	Female
Ethnicity	Not included	Canadian, Caucasian	Canadian, Caucasian	Turkish	Iraqi	Iraqi	Saudi Arabian	Saudi Arabian	Saudi Arabian	Saudi Arabian	Canadian, Caucasian
Consanguinity	No	No	No	Yes	Yes	Yes	Yes	Yes	Yes	Yes	No
Homozygous ALG9 mutation (NM_024740.2)	c.1567G > A, p.E523K	c.860A > G, p.Y287C, rs 121908023	c.860A > G, p.Y287C, rs 121908023	c.1173 + 2T > A; p.V340Afs*57	c.1173 + 2T > A; p.V340Afs*57	c.1173 + 2T > A; p.V340Afs*57	c.1588G > A; pE530K	c.1588G > A; pE530K	c.1588G > A; pE530K	c.1588G > A; pE530K	c.860A > G; p.Y287C
Prenatal history	Not included	Pericardial effusion	Not included	Oligohydromnios, enlarged and hyperechogenic kidneys, large ventriuloseptal defect, anomalous outflow tract	Brachymelia, low-set ears, micrognathia, enlarged and hyperechogenic kidneys, hydronephrosis, hydrops		Decreased fetal movements	Not included	Not included	Hydrops fetalis	Prefrontal edema, micrognathia, short neck, long philtrum, polycystic kidneys
Growth parameters	Severe microcephaly	Weight < 3rd, length < 3rd, head circumference 3rd; progressive microcephaly	Not included	Birth weight 0.8 SD, length − 2SD, head circumference − 2 SD.	Birth weight − 1.5 SD, length − 1.6 SD, head circumference − 1.3 SD	Not included	All growth parameters at the 5th percentile by age 6 years	Microcephaly	Microcephaly	Birth weight > 97th percentile; no microcephaly	Birth weight 25–50th, birth length 25th, head circumference 50–90th; at 3 months weight − 3 SD, length − 2 SD, OFC − 2 SD
Dysmorphisms	Not included	Inverted nipples	“Mild”	Brachycephaly, wide anterior fontanelle, frontotemporal hypertrichosis, proptosis, hypertelorism, telecanthus, beaked nose, hypoplastic nasal alae, flat philtrum, thin upper lip, retromicrognathia, low-set posteriorly rotated fleshy ears, excess nuchal skin			Scalp cutis aplasia, bossing, hypertelorism, depressed nasal bridge, large mouth, low-set ears, widely spaced inverted nipples, lipodystrophy	“Yes”	“Yes”	Skin edema at birth, short nose, long philtrum, short neck	Splayed sutures, metopic ridge, shallow orbits, discordant gaze, low columnella, smooth philtrum, thin upper lip, bifid uvula, micrognathia, rotated ears, short wide neck excess nuchal skin, low posterior hairline, hypoplastic nipples, cutis marmota
Seizures	Present	Present	Present	N/A	N/A	N/A	Present	Present	Present	Present	Present
Central nervous System	Hypotonia	Hypotonia, irritability, intermittent esotropia, head lag, increased cerebrospinal fluid spaces, widened sulci, delayed myelination, cerebral/cerebellar atrophy	Mild hypotonia, inconsolable crying	Not included	Not included	Not included	Hypotonia, exaggerated deep tendon reflexes; cerebral and cerebellar atrophy; delayed myelination			Hypotonia, wide subarachnoid spaces	Hypotonia, irritability, spacticity in the legs, mildly delayed myelination, diffusion restriction in superior cerebellar peduncles/medial cerebral peduncles/midbrain/hypothalamus
Cardiorespiratory	Bronchial asthma	Pericardial effusion, this lead to tamponade	Small pericardial effusion	“Congenital heart defect”, lung hypoplasia, abnormal lobation	Lung hypoplasia, abnormal lobation		Mild tricuspid regurgitation	Not included	Mild pericardial effusion	Atrioseptal defect, mild dilatation of the right ventricle	Atrioseptal defect, ventriculoseptal defect
Genitourinary	Not included	Not included	Not included	Polycystic kidneys, hypoplastic renal arteries/ureters/bladder, bicornuate uterus, atrophic ovaries	Polycystic kidneys	Polycystic kidneys, hydronephrosis, bicornuate uterus	Not included	Not included	Not included	Not included	Polycystic, dysplastic kidneys
Gastrointestinal	Hepatomegaly	Focal villous atrophy in the small bowel	Vomiting, watery stool	Periportal fibrosis	Not included	Omphalocele	Mild hepatomegaly	Mild hepatomegaly	Mild hepatomegaly	Mild hepatomegaly	Multiple small liver cysts, gastroesophageal reflux
Musculoskeletal	Not included	Right-sided torticollis, severely decreased muscle bulk	Not included	Decreased ossification of the frontoparietal bones, thickened occiput, absent ossification of cervical spine, brachymelia, ulnar deviation of the hands, decreased ossification of the pubic bones, round pelvis, shortened greater siatic notches, ovoid ischia, short tubular bones with metaphyseal flaring			Mild skeletal dysplasia				Talipes equinovarus, adduction of thumbs