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IEMbase 0612: SLC35A2-related CDG / early infantile epileptic encephalopathy 22

Scope

Field Value
IEMbase ID 612
Nosology 18.4.02.03
Gene SLC35A2
External IDs OMIM:314375; ORPHA:356961
Generated mapping MAPPED; SLC35A2-CDG.yaml
Candidate DisMech targets Exact disease-level target
Review date 2026-07-07

IEMbase phenotype signal

IEMbase represents SLC35A2-CDG / CDG-IIm as an X-linked disorder with unknown treatability, but it includes one galactose treatment row. The biochemical signal includes increased serum N-glycans and a type II sialotransferrin pattern across age bands.

Clinical rows include epilepsy, developmental delay, intellectual disability, hypotonia, coarse face, feeding difficulties, nystagmus, visual impairment, recurrent infections, dysmorphic features, microcephaly, hand/finger abnormalities, shortened limbs, cerebellar MRI abnormalities, corpus-callosum abnormalities, and optional retinitis pigmentosa. The treatment row records galactose with a reported effect on neurologic/developmental, seizure, growth, and transferrin-profile endpoints.

DisMech phenotype coverage

SLC35A2-CDG.yaml is the correct exact target. The local entry already models Golgi UDP-galactose transport impairment, hypogalactosylation, developmental and epileptic encephalopathy, brain somatic mosaicism/MOGHE, X-linked inheritance, seizure and developmental phenotypes, and oral D-galactose supplementation.

IEMbase adds useful checklist prompts around recurrent infections, visual impairment, nystagmus, retinitis pigmentosa, corpus-callosum/cerebellar MRI rows, shortened limbs, hand/finger abnormalities, and age-banded glycan rows.

Concordance and completeness

Judgement: correct mapping with high concordance.

DisMech is richer for mechanism and galactose-treatment rationale. IEMbase is useful for phenotype completeness review and glycan readout granularity.

Curation actions

  • Keep SLC35A2-CDG.yaml as the canonical mapping.
  • Review whether recurrent infections, visual/retinal findings, limb/hand abnormalities, and corpus-callosum/cerebellar imaging rows should be added.
  • Cross-check the galactose treatment evidence before importing any treatment effect wording.