arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum
MONDO:0032903Mondo
Findings
No curated finding names arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum 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
- Death in infancy · Death in childhood
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.
- Agenesis of corpus callosumHPOHP:0001274
- 6 of 6 reported patients
- AreflexiaHPOHP:0001284
- 6 of 6 reported patients
- Arthrogryposis multiplex congenitaHPOHP:0002804
- 6 of 6 reported patients
- Bulbous noseHPOHP:0000414
- 6 of 6 reported patients
- CryptorchidismHPOHP:0000028
- 3 of 3 reported patients · Male
- Decreased fetal movementHPOHP:0001558
- 6 of 6 reported patients
- Depressed nasal bridgeHPOHP:0005280
- 6 of 6 reported patients
- Feeding difficulties in infancyHPOHP:0008872
- 6 of 6 reported patients
- Global developmental delayHPOHP:0001263
- 6 of 6 reported patients
- Hand clenchingHPOHP:0001188
- 6 of 6 reported patients
- Low-set earsHPOHP:0000369
- 6 of 6 reported patients
- MicrognathiaHPOHP:0000347
- 6 of 6 reported patients
Show the remaining 12
- Narrow mouthHPOHP:0000160
- 6 of 6 reported patients
- Optic atrophyHPOHP:0000648
- 4 of 4 reported patients
- PolyhydramniosHPOHP:0001561
- 6 of 6 reported patients
- Prominent foreheadHPOHP:0011220
- 6 of 6 reported patients
- Rocker bottom footHPOHP:0001838
- 6 of 6 reported patients
- SeizureHPOHP:0001250
- 4 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.
- SCYL2HGNC:19286
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Moderate · Ambry Genetics · Autosomal recessive · 2020
- Moderate · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
2 names
Resolves to: arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum
- Also called
- AMCNACCarthrogryposis multiplex congenita, neurogenic, with agenesis of the corpus callosum