autosomal genetic disease +
congenital nervous system abnormality +

Aicardi-Goutieres syndrome
anencephaly +
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 1C
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
holoprosencephaly +
hypophosphatasia +
lissencephaly +
McCune Albright syndrome
microcephaly +
neurodevelopmental disorder with hypotonia and speech delay
periventricular nodular heterotopia
retinitis pigmentosa 86
Robinow syndrome +
septooptic dysplasia
Sotos syndrome +
spondylocostal dysostosis 5
subcortical band heterotopia
syndromic microphthalmia 12
syndromic microphthalmia 14
syndromic microphthalmia 8
thrombophilia due to thrombomodulin defect
Weill-Marchesani syndrome