Pallister-Hall syndrome
Aicardi-Goutières syndrome
Townes-Brocks syndrome
Joubert syndrome
Costello syndrome
Sotos syndrome
ablepharon macrostomia syndrome
CHARGE syndrome
Wolf-Hirschhorn syndrome
POEMS syndrome
nail-patella syndrome
Timothy syndrome
Nijmegen breakage syndrome
organic defect
Edwards syndrome
monosomy
adermatoglyphia
Allan-Herndon-Dudley syndrome
Pfeiffer syndrome
Down syndrome
pathogenetics
xanthinuria
Lowe syndrome
FG syndrome
Weaver syndrome
genetic defect
Down's syndrome
trisomy 21
Weill-Marchesani syndrome
mongolism
Fanconi anemia
inherited disorder
genetic disorder
genetic disease
mongolianism
genetic abnormality
congenital disease
Cornelia de Lange syndrome
hereditary condition
hereditary disease
inherited disease
neurogenetics
Baller-Gerold syndrome
pachydermoperiostosis
Bloom's syndrome
mutable
macroplasia
McKusick-Kaufman syndrome
Marinesco-Sjögren syndrome
faciodigitogenital dysplasia
embryopathy
diseasome
primary immunodeficiency
piebaldism
morphopathy
Keutel syndrome
cri du chat syndrome
incontinentia pigmenti
abnormality
Cowden syndrome
hereditary hemorrhagic telangiectasia
Dubowitz syndrome
genopathy
embryofetopathy
abnormalcy
Kallman syndrome
pycnodysostosis
Alagille syndrome
XX male syndrome
Brunner syndrome
haematidrosis
proband
embryopathic
Rett syndrome
Carpenter syndrome
Waardenburg syndrome
cartilage-hair hypoplasia
cephalopolysyndactyly
malformation
embryopathological
Feingold syndrome
osteopetrosis
childhood disintegrative disorder
Treacher Collins syndrome
oligophrenia
progeria
tuberous sclerosis
Miller syndrome
structural disorder
supranuclear palsy
Turner syndrome
fragile X syndrome
Cockayne syndrome
Urbach-Wiethe disease
genetic counseling
aetiopathogenesis
Sjögren-Larsson syndrome
Beckwith-Wiedemann syndrome