DEGCAGS syndrome
MONDO:0859181Mondo
Findings
No curated finding names DEGCAGS syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
124 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
- 11 of 13 reported patients
- Failure to thriveHPOHP:0001508
- 6 of 13 reported patients
- Global developmental delayHPOHP:0001263
- 6 of 13 reported patients
- HypotoniaHPOHP:0001252
- 6 of 13 reported patients
- Intellectual disabilityHPOHP:0001249
- 6 of 13 reported patients
- MicrocephalyHPOHP:0000252
- 6 of 13 reported patients
- Abnormal eyelash morphologyHPOHP:0000499
- 4 of 13 reported patients
- AnemiaHPOHP:0001903
- 4 of 13 reported patients
- Intestinal atresiaHPOHP:0011100
- 4 of 13 reported patients
- Jejunal atresiaHPOHP:0005235
- 4 of 13 reported patients
- Premature birthHPOHP:0001622
- 4 of 13 reported patients · Congenital onset
- SyndactylyHPOHP:0001159
- 4 of 13 reported patients
Show the remaining 112
- Abnormal eyebrow morphologyHPOHP:0000534
- 3 of 13 reported patients
- Coarse facial featuresHPOHP:0000280
- 3 of 13 reported patients
- CryptorchidismHPOHP:0000028
- 3 of 13 reported patients · Male
- Feeding difficultiesHPOHP:0011968
- 3 of 13 reported patients
- Intrauterine growth retardationHPOHP:0001511
- 3 of 13 reported patients · Fetal onset
- Pulmonic stenosisHPOHP:0001642
- 3 of 13 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.
- ZNF699HGNC:24750
- Strong · Ambry Genetics · Autosomal recessive · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2022
- Moderate · G2P · Autosomal recessive · 2025
Where it sits
- A kind of