An autosomal genetic disease that is characterized by the presence of two mutated copies of the gene, both of which must be present in order for the disease or trait to develop. (DO)
blepharophimosis, ptosis, and epicanthus inversus syndrome +
camptodactyly-tall stature-scoliosis-hearing loss syndrome
combined oxidative phosphorylation deficiency 55
congenital nystagmus 1
distal arthrogryposis type 1C
dopamine transporter deficiency syndrome +
exudative vitreoretinopathy 4
factor XI deficiency
familial adenomatous polyposis +
familial mediterranean fever +
focal segmental glomerulosclerosis 3
Gillespie syndrome
hereditary spastic paraplegia 30
hypophosphatasia +
McCune Albright syndrome
neurodevelopmental disorder with hypotonia and speech delay