SLC35A2-congenital disorder of glycosylation

MONDO:0010478Mondo

Findings

No curated finding names SLC35A2-congenital disorder of glycosylation yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

SLC35A2-CDG is a congenital disorder of glycosylation characterized by severe or profound global developmental delay, early epileptic encephalopathy, muscular hypotonia, dysmorphic features (coarse facies, thick eyebrows, broad nasal bridge, thick lips, inverted nipples), variable ocular defects and brain morphological abnormalities on brain MRI (cerebral atrophy, thin corpus callosum).

Definition from the Mondo Disease Ontology (MONDO:0010478), read 2026-09-29. CC BY 4.0.

Inheritance: X-linked dominant inheritance
Onset and course: Neonatal onset

Features

100 features

What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.

Absent speechHPOHP:0001344
- 3 of 3 reported patients
Coarse facial featuresHPOHP:0000280
- 3 of 3 reported patients
Epileptic encephalopathyHPOHP:0200134
- 3 of 3 reported patients
Epileptic spasmHPOHP:0011097
- 3 of 3 reported patients
Mandibular prognathiaHPOHP:0000303
- 3 of 3 reported patients
Open mouthHPOHP:0000194

Genes

1 gene

Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.

SLC35A2HGNC:11022
- Definitive · Illumina · X-linked · 2019
- Definitive · G2P · X-linked · 2025
- Strong · Ambry Genetics · X-linked · 2019
- Strong · Labcorp Genetics (formerly Invitae) · X-linked · 2022
- Strong · PanelApp Australia · X-linked · 2025
- Supportive · Orphanet · Unknown · 2021

Where it sits

A kind of: congenital disorder of glycosylation type II
developmental anomaly of metabolic origin
disorder of multiple glycosylation

Other names

7 names

Resolves to: SLC35A2-congenital disorder of glycosylation

Also called: CDG syndrome type IImCDG-IImCDG2Mcongenital disorder of glycosylation type 2mcongenital disorder of glycosylation type IImcongenital disorder of glycosylation, type IIm, Somatic mosaicism, X-linked dominantSLC35A2-CDG

Show the remaining 88

Floppy infantHPOHP:0008947
- Very frequent (80% to 99% of cases)
HypsarrhythmiaHPOHP:0002521
- 4 of 6 reported patients
- Very frequent (80% to 99% of cases)
Intellectual disabilityHPOHP:0001249
- 3 of 4 reported patients
- Very frequent (80% to 99% of cases)
Neonatal hyperbilirubinemiaHPOHP:0003265
- 3 of 4 reported patients
EpicanthusHPOHP:0000286
- 2 of 3 reported patients
Exaggerated cupid's bowHPOHP:0002263
- 2 of 3 reported patients
MicrocephalyHPOHP:0000252
- 2 of 3 reported patients
- Frequent (30% to 79% of cases)
Poor head controlHPOHP:0002421
- 2 of 3 reported patients
Short philtrumHPOHP:0000322
- 2 of 3 reported patients
HypotoniaHPOHP:0001252
- 5 of 8 reported patients
Abnormal cerebral white matter morphologyHPOHP:0002500
- Frequent (30% to 79% of cases)
Abnormal facial shapeHPOHP:0001999
- Frequent (30% to 79% of cases)
Abnormal glycosylationHPOHP:0012345
- Frequent (30% to 79% of cases)
Abnormality of the eyeHPOHP:0000478
- Frequent (30% to 79% of cases)
Abnormality of the handHPOHP:0001155
- Frequent (30% to 79% of cases)
Abnormality of the immune systemHPOHP:0002715
- Frequent (30% to 79% of cases)
Abnormality of the respiratory systemHPOHP:0002086
- Frequent (30% to 79% of cases)
Abnormality of the skinHPOHP:0000951
- Frequent (30% to 79% of cases)
Aplasia/hypoplasia involving bones of the extremitiesHPOHP:0045060
- Frequent (30% to 79% of cases)
Axial hypotoniaHPOHP:0008936
- Frequent (30% to 79% of cases)
Cerebellar atrophyHPOHP:0001272
- Frequent (30% to 79% of cases)
Cerebral visual impairmentHPOHP:0100704
- Frequent (30% to 79% of cases)
Decreased galactosylation of N-linked protein glycosylationHPOHP:0012348
- Frequent (30% to 79% of cases)
Decreased sialylation of O-linked protein glycosylationHPOHP:0012363
- Frequent (30% to 79% of cases)
Delayed myelinationHPOHP:0012448
- Frequent (30% to 79% of cases)
Elevated brain N-acetyl aspartate level by MRSHPOHP:0025053
- Frequent (30% to 79% of cases)
Elevated circulating hepatic transaminase concentrationHPOHP:0002910
- Frequent (30% to 79% of cases)
Failure to thrive in infancyHPOHP:0001531
- Frequent (30% to 79% of cases)
Feeding difficultiesHPOHP:0011968
- Frequent (30% to 79% of cases)
Inability to walkHPOHP:0002540
- Frequent (30% to 79% of cases)
Infantile spasmsHPOHP:0012469
- Frequent (30% to 79% of cases)
Nasogastric tube feedingHPOHP:0040288
- Frequent (30% to 79% of cases)
ScoliosisHPOHP:0002650
- Frequent (30% to 79% of cases)
Severe intellectual disabilityHPOHP:0010864
- Frequent (30% to 79% of cases)
Short statureHPOHP:0004322
- Frequent (30% to 79% of cases)
Abnormal isoelectric focusing of serum transferrinHPOHP:0003160
- 4 of 7 reported patients
Abnormal heart morphologyHPOHP:0001627
- Occasional (5% to 29% of cases)
Abnormal long bone morphologyHPOHP:0011314
- Occasional (5% to 29% of cases)
AnisometropiaHPOHP:0012803
- Occasional (5% to 29% of cases)
Atrophy/Degeneration affecting the brainstemHPOHP:0007366
- Occasional (5% to 29% of cases)
Cerebral atrophyHPOHP:0002059
- 1 of 3 reported patients
- Occasional (5% to 29% of cases)
Cerebral white matter atrophyHPOHP:0012762
- Occasional (5% to 29% of cases)
Coxa valgaHPOHP:0002673
- Occasional (5% to 29% of cases)
CraniosynostosisHPOHP:0001363
- Occasional (5% to 29% of cases)
EEG with focal epileptiform dischargesHPOHP:0011185
- Occasional (5% to 29% of cases)
ExotropiaHPOHP:0000577
- Occasional (5% to 29% of cases)
Hypopigmentation of the skinHPOHP:0001010
- Occasional (5% to 29% of cases)
Hypoplasia of the corpus callosumHPOHP:0002079
- 1 of 3 reported patients
- Occasional (5% to 29% of cases)
Intrauterine growth retardationHPOHP:0001511
- 1 of 3 reported patients
- Occasional (5% to 29% of cases)
Inverted nipplesHPOHP:0003186
- Occasional (5% to 29% of cases)
Limb joint contractureHPOHP:0003121
- Occasional (5% to 29% of cases)
Metatarsus adductusHPOHP:0001840
- Occasional (5% to 29% of cases)
Paroxysmal involuntary eye movementsHPOHP:0007704
- Occasional (5% to 29% of cases)
Precocious pubertyHPOHP:0000826
- Occasional (5% to 29% of cases)
Sensorineural hearing impairmentHPOHP:0000407
- Occasional (5% to 29% of cases)
Short corpus callosumHPOHP:0200012
- Occasional (5% to 29% of cases)
Spastic tetraparesisHPOHP:0001285
- Occasional (5% to 29% of cases)
StrabismusHPOHP:0000486
- Occasional (5% to 29% of cases)
Talipes equinovarusHPOHP:0001762
- Occasional (5% to 29% of cases)
Thickened nuchal skin foldHPOHP:0000474
- Occasional (5% to 29% of cases)
Atrial septal defectHPOHP:0001631
- 1 of 3 reported patients
Cerebellar hypoplasiaHPOHP:0001321
- 1 of 3 reported patients
Enamel hypoplasiaHPOHP:0006297
- 1 of 3 reported patients
Full cheeksHPOHP:0000293
- 1 of 3 reported patients
Fused teethHPOHP:0011090
- 1 of 3 reported patients
High palateHPOHP:0000218
- 1 of 3 reported patients
HypertensionHPOHP:0000822
- 1 of 3 reported patients
Ureteropelvic junction obstructionHPOHP:0000074
- 1 of 3 reported patients
Vesicovaginal fistulaHPOHP:0001586
- 1 of 3 reported patients
Delayed CNS myelinationHPOHP:0002188
- 1 of 4 reported patients
Enlarged cisterna magnaHPOHP:0002280
- 1 of 4 reported patients
Lateral ventricle dilatationHPOHP:0006956
- 1 of 4 reported patients
- Very rare (1% to 4% of cases)
OligohydramniosHPOHP:0001562
- 1 of 4 reported patients
Abnormal midbrain morphologyHPOHP:0002418
- Very rare (1% to 4% of cases)
Abnormal renal morphologyHPOHP:0012210
- Very rare (1% to 4% of cases)
Camptodactyly of fingerHPOHP:0100490
- Very rare (1% to 4% of cases)
Cortical dysplasiaHPOHP:0002539
- Very rare (1% to 4% of cases)
Dandy-Walker malformationHPOHP:0001305
- Very rare (1% to 4% of cases)
Elevated circulating thyroglobulin concentrationHPOHP:0025484
- Very rare (1% to 4% of cases)
Elevated circulating thyroid-stimulating hormone concentrationHPOHP:0002925
- Very rare (1% to 4% of cases)
Gastroesophageal refluxHPOHP:0002020
- Very rare (1% to 4% of cases)
Hip subluxationHPOHP:0030043
- Very rare (1% to 4% of cases)
Hypoplastic hippocampusHPOHP:0025517
- Very rare (1% to 4% of cases)
Joint hypermobilityHPOHP:0001382
- Very rare (1% to 4% of cases)
OsteopeniaHPOHP:0000938
- Very rare (1% to 4% of cases)
Short tibiaHPOHP:0005736
- Very rare (1% to 4% of cases)
Tetralogy of FallotHPOHP:0001636
- Very rare (1% to 4% of cases)
Transient nephrotic syndromeHPOHP:0008695
- Very rare (1% to 4% of cases)