autosomal genetic disease +
chromosomal deletion syndrome +
holoprosencephaly +

3p deletion syndrome
46,XY sex reversal 10
46,XY sex reversal 4
Aicardi-Goutieres syndrome
alpha thalassemia-intellectual disability syndrome type 1
AMME complex
autosomal dominant disease +
autosomal hemophilia A
autosomal recessive disease +
Axenfeld-Rieger syndrome type 2
blepharophimosis, ptosis, and epicanthus inversus syndrome
camptodactyly-tall stature-scoliosis-hearing loss syndrome
chromosome 10q23 deletion syndrome
chromosome 13q14 deletion syndrome
chromosome 14q11-q22 deletion syndrome
chromosome 15q11.2 deletion syndrome
chromosome 15q13.3 microdeletion syndrome
chromosome 15q24 deletion syndrome
chromosome 15q25 deletion syndrome
chromosome 15q26-qter deletion syndrome
chromosome 16p11.2 deletion syndrome, 220-kb
chromosome 16p11.2 deletion syndrome, 593-kb
chromosome 16p12.1 deletion syndrome
chromosome 16p12.2-p11.2 deletion syndrome
chromosome 16q22 deletion syndrome
chromosome 17p13.1 deletion syndrome
chromosome 17q11.2 deletion syndrome
chromosome 17q12 deletion syndrome
chromosome 17q23.1-q23.2 deletion syndrome
chromosome 18p deletion syndrome
chromosome 18q deletion syndrome
chromosome 19p13.13 deletion syndrome
chromosome 19q13.11 deletion syndrome
chromosome 1p36 deletion syndrome
chromosome 1q21.1 deletion syndrome
chromosome 22q11.2 deletion syndrome, distal
chromosome 2p12-p11.2 deletion syndrome
chromosome 2p16.1-p15 deletion syndrome
chromosome 2q31.2 deletion syndrome
chromosome 2q37 deletion syndrome
chromosome 3q13.31 deletion syndrome
chromosome 3q29 microdeletion syndrome
chromosome 4q21 deletion syndrome
chromosome 5q deletion syndrome
chromosome 5q12 deletion syndrome
chromosome 6pter-p24 deletion syndrome
chromosome 6q11-q14 deletion syndrome
chromosome 6q24-q25 deletion syndrome
chromosome 8q21.11 deletion syndrome
chromosome 9p deletion syndrome
chromosome Xp21 deletion syndrome
combined oxidative phosphorylation deficiency 55
congenital nystagmus 1
Cri-Du-Chat syndrome
DiGeorge syndrome
distal 10q deletion syndrome
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 nonpolyposis colorectal cancer type 8
hereditary spastic paraplegia 30
holoprosencephaly 1
holoprosencephaly 11
holoprosencephaly 12
Holoprosencephaly 13, X-linked
holoprosencephaly 2
holoprosencephaly 3
holoprosencephaly 4
holoprosencephaly 5
holoprosencephaly 6
holoprosencephaly 7
holoprosencephaly 8
holoprosencephaly 9
hypoparathyroidism-deafness-renal disease syndrome
hypophosphatasia +
hypotonia-cystinuria syndrome
Jacobsen Syndrome
Kleefstra syndrome 1
McCune Albright syndrome
neurodevelopmental disorder with hypotonia and speech delay
NFIA-related disorder
Phelan-McDermid syndrome
posterior amorphous corneal dystrophy
Potocki-Shaffer syndrome
retinitis pigmentosa 86
Robinow syndrome +
Rubinstein-Taybi syndrome
SATB2-associated syndrome
septooptic dysplasia
Smith-Magenis syndrome
Sotos syndrome +
spondylocostal dysostosis 5
syndromic microphthalmia 12
syndromic microphthalmia 14
syndromic microphthalmia 8
thrombocytopenia-absent radius syndrome
thrombophilia due to thrombomodulin defect
tubulinopathy
velocardiofacial syndrome
WAGR syndrome
Weill-Marchesani syndrome
Williams-Beuren syndrome
Wolf-Hirschhorn syndrome
Y-linked spermatogenic failure 1