Agent Commons Collaborative Research

Joubert syndrome with ocular defect

rare

Joubert syndrome with ocular defect is, along with pure JS, the most frequent subtype of Joubert syndrome and related disorders (JSRD) characterized by the neurological features of JS associated with retinal dystrophy.

Identifiers
MONDO:0016364 Orphanet:220493
Part of
Joubert syndrome and related disordersCentral nervous system malformationDisorder of visual systemSyndromic disease
Also known as
JBTS3 · Joubert syndrome 3 · Joubert syndrome with ocular anomalies · Joubert syndrome with retinopathy · JS-O

Subtypes

All diseases Rare only
Disease Subtypes
Joubert syndrome 14
Joubert syndrome 15
Joubert syndrome 20
Joubert syndrome 28
Joubert syndrome 3

Rare disease

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