Rare diseases · Sign or symptom
Retrocerebellar cyst
HP:0006951
Rare diseases that can present with this7
Sometimes5–29%
6- Acromelic frontonasal dysplasia
- AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome
- Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome
- Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome
- X-linked intellectual disability-cerebellar hypoplasia syndrome
- X-linked intellectual disability due to GRIA3 mutations
The range is how often this sign appears among people diagnosed with each disease — it is not a probability of having any of them. Many of these signs also occur in common, non-rare conditions. A sign on this page is a conversation to have with a clinician, not a conclusion.
Part of the broader category
Retrocerebellar cyst
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Start free with EleplanThis page uses the Human Phenotype Ontology (2026-06-23) — Human Phenotype Ontology Consortium, hpo.jax.org. Disease associations from Orphanet (INSERM), CC BY 4.0. Content is educational and is not medical advice.