- holoprosencephaly [DOID:4621]
A congenital nervous system abnormality characterized by failed or incomplete separation of the forebrain early in gestation; it is accompanied by a spectrum of characteristic craniofacial anomalies.
- Potter's syndrome [DOID:12594]
A renal agenesis characterized by the typical physical appearance and associated pulmonary hypoplasia of a newborn as a direct result of kidney failure, oligohydramnios and compression while in the uterus.
- fetal akinesia deformation sequence syndrome [DOID:0111375]
A syndrome characterized by decreased fetal movements, intrauterine growth restriction, joint contractures, and developmental anomalies, including lung hypoplasia, cleft palate, and cryptorchidism that often has_material_basis_in mutation in a gene associated with the neuromuscular junction.
- situs inversus [DOID:758]
A visceral heterotaxy that is characterized by complete right-to-left reversal of the position of the major thoracic and abdominal organs.
- DiGeorge syndrome [DOID:11198]
A syndrome that has_material_basis_in a large deletion of the chromosome 22q11.2 region which includes the DGS gene needed for development of the thymus and related glands with subsequent lack of T-cell production.