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Axenfeld-Rieger syndrome type 1
rareA rare autosomal dominant syndrome linked to mutations in the PITX2 gene. It is characterized by abnormalities in the anterior chamber of the eye and underdevelopment of the teeth.
- Identifiers
- MONDO:0008386 OMIM:180500
- Causal genes
- PITX2
- Part of
- Axenfeld-Rieger syndrome
- Also known as
- Axenfeld-Rieger syndrome caused by mutation in PITX2 · Axenfeld-Rieger syndrome, type 1 · PITX2 Axenfeld-Rieger syndrome · RIEG1 · Rieger syndrome type 1
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