Facies, Retinal Dystrophy, And Myopathy, Spermatogenic Failure AD,AR 99.85 3 of 3 PTCH1 Basal Cell Nevus Syndrome, Holoprosencephaly, Alobar Holoprosencephaly, Gorlin Syndrome
[igenomix.es]
Syndrome AR 100 1 of 2 PORCN Focal Dermal Hypoplasia X,XD,G 100 NA of NA PPP1R12A Genitourinary And/Or/Brain Malformation Syndrome AD 99.48 1 of 1 PPP2R3C Gonadal Dysgenesis, Dysmorphic
[igenomix.es]