Joubert syndrome

SYD: 32




Joubert syndrome

Description: Joubert syndrome is a clinically and genetically heterogeneous group of disorders characterized by hypoplasia of the cerebellar vermis with the characteristic neuroradiologic 'molar tooth sign,' and accompanying neurologic symptoms, including dysregulation of breathing pattern and developmental delay. Other variable features include retinal dystrophy and renal anomalies


Synonyms:
There are no synonyms for this combination.

Category: Syndrome

Developmental anomalies

Listed in the combination's profile :


There are no developmental anomalies for this combination.

Observed in MDB cases:


There are no developmental anomalies for this combination.
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Associated malformative diseases
Associated genes
Associated signaling pathways
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