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congenital disorder of glycosylation type IIk

ORPHA: 314667

Contents

  1. 1. Overview
  2. 2. Available Treatments
  3. 3. Classification & Codes

Overview

congenital disorder of glycosylation type II that has material basis in an autosomal recessive mutation of TMEM165 on chromosome 4q12

Available Treatments (0)

No treatments linked yet

Clinical trials or compassionate use may be available — consult a specialist.

Classification & Codes

Orphanet Code

ORPHA:314667
congenital disorder of glycosylation type IIk
OrphanetORPHA:314667
Treatments0 drug(s)
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO
congenital disorder of glycosylation type IIk | OrphanDrug