Terminology Service for NFDI4Health
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Joubert Syndrome Type 4

Go to external page http://purl.obolibrary.org/obo/NCIT_C74997

A rare genetic syndrome caused by mutations in the NPHP1 gene. It is characterized by the hypoplasia or absence of the cerebellar vermis. Signs and symptoms include rapid breathing (hyperpnea), sleep apnea, abnormal eye movements, mental retardation, and ataxia. [ ]

Term info

Label

Joubert Syndrome Type 4

Synonyms
  • Joubert Syndrome 4
  • Joubert Syndrome Type 4
Legacy Concept Name

Joubert_Syndrome_Type_4

Preferred Name

Joubert Syndrome Type 4

Semantic Type

Disease or Syndrome

UMLS CUI

C1846790

code

C74997