autosomal genetic disease +
distal arthrogryposis type 1 +

Aicardi-Goutieres syndrome
autosomal dominant disease +
autosomal hemophilia A
autosomal recessive disease +
blepharophimosis, ptosis, and epicanthus inversus syndrome
camptodactyly-tall stature-scoliosis-hearing loss syndrome
chromosome 1q41-q42 deletion syndrome
combined oxidative phosphorylation deficiency 55
congenital nystagmus 1
distal arthrogryposis type 1A
distal arthrogryposis type 1B
dopamine transporter deficiency syndrome +
exudative vitreoretinopathy 4
factor XI deficiency
familial adenomatous polyposis +
familial Mediterranean fever
focal segmental glomerulosclerosis 3
Gillespie syndrome
glucose transporter type 1 deficiency syndrome +
hereditary desmoid disease
hereditary spastic paraplegia 30
hypophosphatasia +
McCune Albright syndrome
neurodevelopmental disorder with hypotonia and speech delay
retinitis pigmentosa 86
Robinow syndrome +
septooptic dysplasia
Sotos syndrome +
spondylocostal dysostosis 5
syndromic microphthalmia 12
syndromic microphthalmia 14
syndromic microphthalmia 8
thrombophilia due to thrombomodulin defect
tubulinopathy
Weill-Marchesani syndrome