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Metadata
ID DOID:0050777
Name Joubert syndrome
Definition A ciliopathy that is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones.
http://en.wikipedia.org/wiki/Joubert_syndrome, http://omim.org/entry/213300?search=joubert&highlight=joubert
Xrefs

GARD:6802

ICD10CM:Q04.3

OMIM:PS213300

ORDO:475

Subsets

DO_rare_slim

Synonyms

JBTS [EXACT]

Parent Relationships

is_a brain disease

is_a ciliopathy

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