congenital disorder of glycosylation, type IIcc
MONDO:0980705Mondo
Findings
No curated finding names congenital disorder of glycosylation, type IIcc yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset · Neonatal onset
HPO, annotations 2026-09-02
Features
127 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.
- Absent speechHPOHP:0001344
- 7 of 7 reported patients
- Ambiguous genitaliaHPOHP:0000062
- 1 of 1 reported patient
- AnxietyHPOHP:0000739
- 1 of 1 reported patient
- AspirationHPOHP:0002835
- 2 of 2 reported patients
- Atrial septal defectHPOHP:0001631
- 1 of 1 reported patient
- Attention deficit hyperactivity disorderHPOHP:0007018
- 2 of 2 reported patients
- AutismHPOHP:0000717
- 1 of 1 reported patient
- Autistic behaviorHPOHP:0000729
- 4 of 4 reported patients
- Bicuspid aortic valveHPOHP:0001647
- 1 of 1 reported patient
- Bilateral cleft lipHPOHP:0100336
- 1 of 1 reported patient
- Bilateral superior vena cavaHPOHP:0033379
- 1 of 1 reported patient
- Bilateral tonic-clonic seizureHPOHP:0002069
- 2 of 2 reported patients
Show the remaining 115
- Bilateral tonic-clonic seizure with generalized onsetHPOHP:0025190
- 2 of 2 reported patients
- Breech presentationHPOHP:0001623
- 2 of 2 reported patients
- CardiomegalyHPOHP:0001640
- 1 of 1 reported patient
- Central apneaHPOHP:0002871
- 1 of 1 reported patient
- Cerebral palsyHPOHP:0100021
- 1 of 1 reported patient
- ClinodactylyHPOHP:0030084
- 1 of 1 reported patient