congenital disorder of glycosylation type IIc
ORPHA: 99843
Overview
genetic disease
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with congenital disorder of glycosylation type IIc, sourced from HPO and Orphanet clinical annotations.
SeizureIntrauterine growth retardationSmall for gestational ageMicrocytic anemiaRecurrent feverCerebral atrophySleep disturbanceSevere intellectual disabilityRecurrent urinary tract infectionsSevere periodontitisNarrow palateGingival overgrowthMicrocephalyLow anterior hairlineMandibular prognathiaHypertelorismSmall earlobeRecurrent otitis mediaConductive hearing impairmentWide nasal bridgeDepressed nasal ridgeKeratitisLong eyelashesBroad palmAtaxiaGeneralized hypotoniaHyperreflexiaUmbilical herniaOverlapping toeDeep philtrumChronic diarrheaHepatomegalyDepressed nasal bridgePremature loss of teethRecurrent pneumoniaLower limb hypertoniaChronic lymphocytic meningitisHypoplasia of the frontal lobesMicrotiaLimb undergrowthProtruding tongueBroad eyebrowLong upper lipEsodeviationRecurrent gastroenteritisImpaired tandem gaitPalpebral edemaScarringSkin vesicleCoarse facial featuresFailure to thriveAnemiaIncreased total leukocyte countRecurrent infectionsShort statureIncreased total neutrophil countAbnormal isohemagglutinin levelAutistic behavior
Classification & Codes
Orphanet Code
ORPHA:99843congenital disorder of glycosylation type IIc
| Orphanet | ORPHA:99843 |
| Treatments | 0 drug(s) |
| Symptoms on record | 58 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO