abnormality
abnormalcy
arthrogryposis
malformation
amyoplasia
genopathy
achondrogenesis
dysmorphology
hypomorph
variation
Nijmegen breakage syndrome
ectromelia
nevoid basal-cell carcinoma syndrome
muscular dystrophy
embryopathy
acephalopodia
Dejerine-Sottas disease
teratism
mutagenesis
pathogenetics
Edwards syndrome
Wolf-Hirschhorn syndrome
genetic disorder
nail-patella syndrome
excrescent
childhood disintegrative disorder
endophenotype
antimorph
dyskeratosis congenita
atavist
primary immunodeficiency
infantilism
monstrosity
acheiropody
organic defect
polymelia
clinotype
pseudolesion
designer baby
Pallister-Hall syndrome
immutability
acquired disorder
neurogenetics
acephalocheiria
fixity
immutableness
abiotrophy
amorph
Fanconi anemia
inborn error of metabolism
chondrodystrophy
dystrophy
hypogenesis
dynapenia
amyotonia
tetra-amelia
Waardenburg syndrome
Cockayne syndrome
spastic tetraplegia
dysembryogenesis
amelia
aplasia
cri du chat syndrome
congenital disease
genetic engineering
genetic abnormality
amputation
genetic defect
hereditary condition
Beckwith-Wiedemann syndrome
endotype
hereditary disease
inherited disorder
adermatoglyphia
acephalorrhachia
genetic disease
inherited disease