X-linked cerebral-cerebellar-coloboma syndrome syndrome
ORPHA: 163961
Overview
human disease
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with X-linked cerebral-cerebellar-coloboma syndrome syndrome, sourced from HPO and Orphanet clinical annotations.
HydrocephalusLow-set earsChorioretinal colobomaIntellectual disabilitySeizureGlobal developmental delayCerebellar vermis hypoplasiaVentriculomegalyAbnormal brainstem morphologyAbnormal cerebral cortex morphologyEpisodic tachypneaApneic episodes in infancyFloppy infantFeeding difficultiesNasogastric tube feedingRetrognathiaHypertelorismMicrognathiaPosteriorly rotated earsAreflexiaDandy-Walker malformationFrontal bossingDysphagiaPoor suckMeckel diverticulumAgenesis of cerebellar vermisShort noseSupernumerary ribsUncontrolled eye movementsUndetectable visual evoked potentialsThick nasal alae
Classification & Codes
Orphanet Code
ORPHA:163961X-linked cerebral-cerebellar-coloboma syndrome syndrome
| Orphanet | ORPHA:163961 |
| Treatments | 0 drug(s) |
| Symptoms on record | 31 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO