corpus callosum agenesis-abnormal genitalia syndrome
Findings
No curated finding names corpus callosum agenesis-abnormal genitalia syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Corpus callosum agenesis-abnormal genitalia syndrome is a rare, genetic developmental defect during embryogenesis syndrome characterized by agenesis of the corpus callosum, mild to severe neurological manifestations (intellectual disability, developmental delay, epilepsy, dystonia), and urogenital anomalies (hypospadias, cryptorchidism, renal dysplasia, ambiguous genitalia). Additionally, skeletal anomalies (limb contractures, scoliosis), dysmorphic facial features (large eyes, prominent supraorbital ridges, synophris) and optic atrophy have been observed.
Definition from the Mondo Disease Ontology (MONDO:0010224), read 2026-09-29. CC BY 4.0.
Features
21 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
- Very frequent (80% to 99% of cases)
- MicrocephalyHPOHP:0000252
- Very frequent (80% to 99% of cases)
- SeizureHPOHP:0001250
- Very frequent (80% to 99% of cases)
- Severe global developmental delayHPOHP:0011344
- Very frequent (80% to 99% of cases)
- Severe intellectual disabilityHPOHP:0010864
- Very frequent (80% to 99% of cases)
- Short statureHPOHP:0004322
- Very frequent (80% to 99% of cases)
Show the remaining 9
- Protruding earHPOHP:0000411
- Frequent (30% to 79% of cases)
- ScoliosisHPOHP:0002650
- Frequent (30% to 79% of cases)
- StrabismusHPOHP:0000486
- Frequent (30% to 79% of cases)
- Cerebral cortical atrophyHPOHP:0002120
- Occasional (5% to 29% of cases)
- HypospadiasHPOHP:0000047
- Occasional (5% to 29% of cases)
- Inguinal herniaHPOHP:0000023
- Occasional (5% to 29% of cases)
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.
- ARXHGNC:18060
- Supportive · Orphanet · X-linked · 2021
Where it sits
- A kind of
Other names
4 names
Resolves to: corpus callosum agenesis-abnormal genitalia syndrome
- Also called
- ACC-abnormal genitalia syndromemicrocephaly-corpus callosum agenesis-abnormal genitalia syndromeProud syndromeProud-Levine-Carpenter syndrome