ARSD, arylsulfatase D, 414

N. diseases: 163; N. variants: 1
Disease: Microphthalmos ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0026010
Disease: Microphthalmos
Microphthalmos 		0.020 Biomarker disease BEFREE Recessive pathogenic variants in <i>CYP1B1</i> were identified in two PCG pedigrees, three cases with CG and ASD, and two families with CG and other ocular defects, such as sclerocornea in one patient and microphthalmia in another individual; neither sclerocornea nor microphthalmia has been previously associated with <i>CYP1B1</i>. 27777502 2016
CUI: C0026010
Disease: Microphthalmos
Microphthalmos 		0.020 Biomarker disease BEFREE In addition to microphthalmia and linear skin streaks, he had a secundum ASD, hypospadias with chordee, anal fistula, and agenesis of corpus callosum with colpocephaly. 9508062 1998