congenital hydrocephalus
MONDO:0016349Mondo
Findings
No curated finding names congenital hydrocephalus yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Hydrocephalus that is present at birth.
Definition from the Mondo Disease Ontology (MONDO:0016349), 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.
- HydrocephalusHPOHP:0000238
- Very frequent (80% to 99% of cases)
- Abnormal cortical gyrationHPOHP:0002536
- Frequent (30% to 79% of cases)
- Bulbous noseHPOHP:0000414
- Frequent (30% to 79% of cases)
- ColpocephalyHPOHP:0030048
- Frequent (30% to 79% of cases)
- Downslanted palpebral fissuresHPOHP:0000494
- Frequent (30% to 79% of cases)
- Facial asymmetryHPOHP:0000324
- Frequent (30% to 79% of cases)
- Frontal bossingHPOHP:0002007
- Frequent (30% to 79% of cases)
- Intellectual disabilityHPOHP:0001249
- Frequent (30% to 79% of cases)
- Iris colobomaHPOHP:0000612
- Frequent (30% to 79% of cases)
- MacrocephalyHPOHP:0000256
- Frequent (30% to 79% of cases)
- Motor delayHPOHP:0001270
- Frequent (30% to 79% of cases)
- Posteriorly rotated earsHPOHP:0000358
- Frequent (30% to 79% of cases)
Show the remaining 9
- SeizureHPOHP:0001250
- Frequent (30% to 79% of cases)
- Small cerebral cortexHPOHP:0002472
- Frequent (30% to 79% of cases)
- StrabismusHPOHP:0000486
- Frequent (30% to 79% of cases)
- VentriculomegalyHPOHP:0002119
- Frequent (30% to 79% of cases)
- Abnormal heart morphologyHPOHP:0001627
- Very rare (1% to 4% of cases)
- LissencephalyHPOHP:0001339
- Very rare (1% to 4% 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.
- LDB1HGNC:6532
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- A kind of
- Narrower terms (8)
- autosomal recessive hydrocephalus due to congenital stenosis of aqueduct of Sylvius
- congenital communicating hydrocephalus
- congenital non-communicating hydrocephalus
- hydrocephalus-blue sclerae-nephropathy syndrome
- hydrocephalus, congenital, 3, with brain anomalies
- hydrocephalus, nonsyndromic, autosomal recessive 1
- hydrocephalus, nonsyndromic, autosomal recessive 2
- X-linked hydrocephalus with stenosis of the aqueduct of Sylvius