agenesis of corpus callosum, cardiac, ocular, and genital syndrome
MONDO:0030065Mondo
Findings
No curated finding names agenesis of corpus callosum, cardiac, ocular, and genital syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
49 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
- 7 of 9 reported patients
- Global developmental delayHPOHP:0001263
- 6 of 8 reported patients
- CryptorchidismHPOHP:0000028
- 3 of 5 reported patients
- Interhypothalamic adhesionHPOHP:0033105
- 5 of 9 reported patients
- Thin upper lip vermilionHPOHP:0000219
- 5 of 9 reported patients
- Intellectual disabilityHPOHP:0001249
- 4 of 8 reported patients
- MacrocephalyHPOHP:0000256
- 4 of 8 reported patients
- Downslanted palpebral fissuresHPOHP:0000494
- 4 of 9 reported patients
- Low-set earsHPOHP:0000369
- 4 of 9 reported patients
- Periventricular heterotopiaHPOHP:0007165
- 4 of 9 reported patients
- Posteriorly rotated earsHPOHP:0000358
- 4 of 9 reported patients
- Prominent foreheadHPOHP:0011220
- 4 of 9 reported patients
Show the remaining 37
- Axial hypotoniaHPOHP:0008936
- 3 of 9 reported patients
- Frontal bossingHPOHP:0002007
- 3 of 9 reported patients
- StrabismusHPOHP:0000486
- 3 of 9 reported patients
- Thickened helicesHPOHP:0000391
- 3 of 9 reported patients
- AnxietyHPOHP:0000739
- 2 of 8 reported patients
- Attention deficit hyperactivity disorderHPOHP:0007018
- 2 of 8 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.
- CDH2HGNC:1759
- Definitive · ClinGen · Autosomal dominant · 2026
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Strong · G2P · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2019
Where it sits
- A kind of
Other names
1 name
Resolves to: agenesis of corpus callosum, cardiac, ocular, and genital syndrome
- Also called
- ACOGS