congenital disorder of glycosylation, type 1DD
MONDO:0975846Mondo
Findings
No curated finding names congenital disorder of glycosylation, type 1DD yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Pseudoautosomal recessive inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
29 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.
- Abnormal facial shapeHPOHP:0001999
- 4 of 4 reported patients
- Axial hypotoniaHPOHP:0008936
- 4 of 4 reported patients
- Corneal erosionHPOHP:0200020
- 1 of 1 reported patient
- Failure to thriveHPOHP:0001508
- 4 of 4 reported patients
- Gastrostomy tube feeding in infancyHPOHP:0011471
- 4 of 4 reported patients
- Profound intellectual disabilityHPOHP:0002187
- 2 of 2 reported patients
- Sensorineural hearing impairmentHPOHP:0000407
- 3 of 3 reported patients
- Severe global developmental delayHPOHP:0011344
- 4 of 4 reported patients
- Knee contractureHPOHP:0034671
- 3 of 4 reported patients
- SeizureHPOHP:0001250
- 3 of 4 reported patients
- Type I transferrin isoform profileHPOHP:0003642
- 3 of 4 reported patients
- Gastroesophageal refluxHPOHP:0002020
- 2 of 3 reported patients
Show the remaining 17
- Aplasia of the vestibular nerveHPOHP:0011393
- 2 of 4 reported patients
- ApneaHPOHP:0002104
- 2 of 4 reported patients
- Cochlear nerve aplasiaHPOHP:6000988
- 2 of 4 reported patients
- HepatomegalyHPOHP:0002240
- 2 of 4 reported patients
- ScoliosisHPOHP:0002650
- 2 of 4 reported patients
- StridorHPOHP:0010307
- 2 of 4 reported patients
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.
- DHRSXHGNC:18399
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of