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developmental defect during embryogenesis
Instances
Tetralogy of Fallot
? TBD
Type of congenital heart defect
Acrodermatitis enteropathica
? TBD
Medical condition
Congenital heart defect
? TBD
Defect in the structure of the heart that is present at birth
Costello syndrome
? TBD
Medical condition
Diffuse idiopathic skeletal hyperostosis
? TBD
Medical condition
Antley–Bixler syndrome
? TBD
Congenital disorder
Lissencephaly
? TBD
Birth defect in which the brain lacks surface folds
Gastroschisis
? TBD
Defect resulting in visible intestines
ADNP syndrome
? TBD
Genetic disorder characterized by developmental delay and autistic features
Biliary atresia
? TBD
Absence, blockage, or narrowing of bile ducts in the liver at birth
Peters-plus syndrome
? TBD
Medical condition
Progeria
? TBD
Genetic disorder that causes early aging
Weaver syndrome
? TBD
Rare genetic overgrowth disorder
Severe intellectual disability-progressive spastic diplegia syndrome
? TBD
Medical condition
multiple congenital anomalies/dysmorphic syndrome-intellectual disability
? TBD
human disease
Abetalipoproteinemia
? TBD
Medical condition
autosomal recessive metabolic cerebellar ataxia
? TBD
human disease
developmental anomaly of metabolic origin
? TBD
human disease
Cohen syndrome
? TBD
Medical condition
cobblestone lissencephaly
? TBD
smooth pebbled appearance of the cerebral cortex with a thickened cortex and reduced and abnormal white matter
Jacobsen syndrome
? TBD
Medical condition
Polyploidy
? TBD
Condition where cells have more than two sets of chromosomes
Fabry disease
? TBD
Rare human genetic lysosomal storage disorder
Hirsutism-skeletal dysplasia-intellectual disability syndrome
? TBD
human disease
Smith–Lemli–Opitz syndrome
? TBD
Recessive genetic condition
Congenital cytomegalovirus infection
? TBD
Medical condition
infectious embryofetopathy
? TBD
human disease
facial dermoid cyst
? TBD
cysts and fistulae of the face and oral cavity
? TBD
human disease
cervical dermoid cyst
? TBD