congenital disorder of glycosylation, type Iw, autosomal dominant
MONDO:0859223Mondo
Findings
No curated finding names congenital disorder of glycosylation, type Iw, autosomal dominant yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Infantile onset · Middle age onset · Juvenile onset · Neonatal onset · Young adult onset · Childhood onset
HPO, annotations 2026-09-02
Features
24 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.
- Motor delayHPOHP:0001270
- 9 of 13 reported patients
- Intellectual disabilityHPOHP:0001249
- 9 of 15 reported patients
- High anterior hairlineHPOHP:0009890
- 9 of 16 reported patients
- Delayed speech and language developmentHPOHP:0000750
- 7 of 13 reported patients
- Thin upper lip vermilionHPOHP:0000219
- 8 of 16 reported patients
- Muscle spasmHPOHP:0003394
- 7 of 16 reported patients
- Short palpebral fissureHPOHP:0012745
- 6 of 16 reported patients
- Wide nasal bridgeHPOHP:0000431
- 6 of 16 reported patients
- Cavum septum pellucidumHPOHP:0002389
- 1 of 3 reported patients
- HypertoniaHPOHP:0001276
- 5 of 15 reported patients
- Mandibular prognathiaHPOHP:0000303
- 5 of 16 reported patients
- OsteoarthritisHPOHP:0002758
- 4 of 15 reported patients
Show the remaining 12
- Skeletal muscle hypertrophyHPOHP:0003712
- 4 of 15 reported patients
- Inverted nipplesHPOHP:0003186
- 4 of 16 reported patients
- Long faceHPOHP:0000276
- 3 of 16 reported patients
- MacrocephalyHPOHP:0000256
- 3 of 16 reported patients
- Short statureHPOHP:0004322
- 3 of 16 reported patients
- Aggressive behaviorHPOHP:0000718
- 2 of 14 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.
- STT3AHGNC:6172
- Definitive · ClinGen · Autosomal dominant · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Strong · G2P · Autosomal dominant · 2021
- Moderate · Ambry Genetics · Autosomal dominant · 2023
Where it sits
- A kind of