Human genes for Axenfeld-Rieger syndrome type 1
Axenfeld-Rieger syndrome type 1 [DOID:0110120]
An Axenfeld-Rieger syndrome that has_material_basis_in heterozygous mutation in the homeobox transcription factor gene PITX2 on chromosome 4q25.
Synonyms: Axenfeld-Rieger syndrome type 1, AxenfeldRieger syndrome type 1, DOID:0110120, RIEG1, Rieger syndrome type 1