X-linked cerebral-cerebellar-coloboma syndrome syndrome
Findings
No curated finding names X-linked cerebral-cerebellar-coloboma syndrome syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare, genetic syndrome with a cerebellar malformation as major feature characterized by cerebellar vermis hypo- or aplasia, ventriculomegaly, agenesis of corpus callosum and abnormalities of the brainstem and cerebral cortex in association with ocular coloboma. Clinically, patients show hydrocephalus at birth, neonatal hypotonia with abnormal breathing pattern, ocular abnormalities with impaired vision, severe psychomotor delay, and seizures.
Definition from the Mondo Disease Ontology (MONDO:0010464), read 2026-09-29. CC BY 4.0.
Features
31 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 brainstem morphologyHPOHP:0002363
- Frequent (30% to 79% of cases)
- Abnormal cerebral cortex morphologyHPOHP:0002538
- Frequent (30% to 79% of cases)
- Apneic episodes in infancyHPOHP:0005949
- Frequent (30% to 79% of cases)
- Cerebellar vermis hypoplasiaHPOHP:0001320
- Frequent (30% to 79% of cases)
- Chorioretinal colobomaHPOHP:0000567
- Frequent (30% to 79% of cases)
- Episodic tachypneaHPOHP:0002876
- Frequent (30% to 79% of cases)
- Feeding difficulties
Show the remaining 19
- Nasogastric tube feedingHPOHP:0040288
- Frequent (30% to 79% of cases)
- SeizureHPOHP:0001250
- Frequent (30% to 79% of cases)
- VentriculomegalyHPOHP:0002119
- Frequent (30% to 79% of cases)
- Agenesis of cerebellar vermisHPOHP:0002335
- Occasional (5% to 29% of cases)
- AreflexiaHPOHP:0001284
- Occasional (5% to 29% of cases)
- Dandy-Walker malformationHPOHP:0001305
- Occasional (5% to 29% of cases)
Where it sits
- A kind of
Other names
2 names
Resolves to: X-linked cerebral-cerebellar-coloboma syndrome syndrome
- Also called
- cerebral-cerebellar-coloboma syndrome, X-linked, X-linked recessiveX-linked intellectual disability, Kroes type