hydranencephaly
Findings
No curated finding names hydranencephaly yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare congenital brain disorder in which the cerebral hemispheres are absent and replaced by sacs that contain cerebrospinal fluid. Signs and symptoms include irritability, increased muscle tone, seizures, and hydrocephalus. The prognosis is poor.
Definition from the Mondo Disease Ontology (MONDO:0016344), read 2026-09-29. CC BY 4.0.
Features
28 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 corpus striatum morphologyHPOHP:0010994
- Very frequent (80% to 99% of cases)
- BlindnessHPOHP:0000618
- Very frequent (80% to 99% of cases)
- Cerebral cortical atrophyHPOHP:0002120
- Very frequent (80% to 99% of cases)
- Global developmental delayHPOHP:0001263
- Very frequent (80% to 99% of cases)
- Infantile sensorineural hearing impairmentHPOHP:0008610
- Very frequent (80% to 99% of cases)
- Intrauterine growth retardationHPOHP:0001511
- Very frequent (80% to 99% of cases)
- Postnatal growth retardationHPOHP:0008897
- Very frequent (80% to 99% of cases)
- Abnormal cerebral artery morphologyHPOHP:0009145
- Frequent (30% to 79% of cases)
- Abnormal dura mater morphologyHPOHP:0010652
- Frequent (30% to 79% of cases)
- Abnormal fontanelle morphologyHPOHP:0011328
- Frequent (30% to 79% of cases)
- Abnormal internal carotid artery morphologyHPOHP:3000062
- Frequent (30% to 79% of cases)
- Antenatal intracerebral hemorrhageHPOHP:0007023
- Frequent (30% to 79% of cases)
Show the remaining 16
- Atrophic pituitary glandHPOHP:0410279
- Frequent (30% to 79% of cases)
- Dilatation of the ventricular cavityHPOHP:0006698
- Frequent (30% to 79% of cases)
- Dysgenesis of the thalamusHPOHP:0025099
- Frequent (30% to 79% of cases)
- Hypoplastic hippocampusHPOHP:0025517
- Frequent (30% to 79% of cases)
- HypotelorismHPOHP:0000601
- Frequent (30% to 79% of cases)
- LethargyHPOHP:0001254
- Frequent (30% to 79% 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.
- NDE1HGNC:17619
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
- Narrower terms (1)
Other names
1 name
Resolves to: hydranencephaly
- Also called
- hydranencephaly (disease)