- 46,XY Gonadal Dysgenesis (SRY-related)
- 46,XY Gonadal Dysgenesis With or Without Adrenal Insufficiency (NR5A1-related)
- Acro-Renal-Ocular syndrome
- Androgen Insensitivity Syndrome (AIS)
- Anophthalmia
- Antley-Bixler Syndrome (ABS)
- Campomelic Dysplasia (CD)
- CHARGE Syndrome
- Chromosomal Abnormalities
- CRASH Syndrome
- Cytochrome P450 Oxidoreductase (POR) Deficiency
- DiGeorge syndrome
- Duane-Radial Ray syndrome
- Ectrodactyly
- Hay-Wells Syndrome
- Holoprosencephaly
- Holt-Oram syndrome
- Hydrocephalus, X-linked
- MASA Syndrome
- Microphthalmia
- Noonan Syndrome
- Open Spine/Abdominal Wall Defects
- Prenatal Cornelia de Lange Syndrome (CdLS)
- Smith-Lemli-Opitz Syndrome
- Townes-Brocks Syndrome
- Uniparental Disomy
- Velocardiofacial syndrome