HMX1, H6 family homeobox 1, 3166

N. diseases: 23; N. variants: 1
Disease: Waardenburg Anophthalmia Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0599973
Disease: Waardenburg Anophthalmia Syndrome
Waardenburg Anophthalmia Syndrome 		0.010 GeneticVariation disease BEFREE Biallelic HMX1 mutations cause a very rare autosomal recessive genetic disorder termed as oculoauricular syndrome (OAS) because it is characterized only by the combination of eye and ear anomalies. 29140751 2018