Marinesco-Sjögren syndrome
Wolf-Hirschhorn syndrome
Weill-Marchesani syndrome
Baller-Gerold syndrome
Lowe syndrome
Sotos syndrome
Allan-Herndon-Dudley syndrome
Costello syndrome
Berk-Tabatznik syndrome
Joubert syndrome
Pfeiffer syndrome
Carpenter syndrome
Treacher Collins syndrome
Moebius syndrome
ataxiology
Brown-Vialetto-Van Laere syndrome
CHARGE syndrome
Cornelia de Lange syndrome
Pallister-Hall syndrome
tetra-amelia
triple A syndrome
cartilage-hair hypoplasia
Landau-Kleffner syndrome
specific language impairment
hereditary motor and sensory neuropathy
Urbach-Wiethe disease
Charcot-Marie-Tooth disease
Cockayne syndrome
osteopetrosis
nail-patella syndrome
Schinzel-Giedion syndrome
FG syndrome
Langer-Giedion syndrome
Miller syndrome
spinocerebellar disorder
anosognosia
Stickler syndrome
Waardenburg syndrome
phocomelia
pica
microcephaly
Kallman syndrome
holoprosencephaly
acheiropody
Salla disease
Brown syndrome
Aicardi-Goutières syndrome
Weaver syndrome
acute flaccid myelitis
GAPO syndrome
Börjeson–Forssman–Lehmann syndrome
Rett syndrome
anoia
locked-in syndrome
hair out of place
pervasive refusal syndrome
somatoform disorder
Nager acrofacial dysostosis
Noonan syndrome
Duane syndrome
Feingold syndrome
childhood disintegrative disorder
Lennox-Gastaut syndrome
Bart syndrome
eating disorder
Levy-Hollister syndrome
Bálint's syndrome
incontinentia pigmenti
Leigh disease
RIDDLE syndrome
Angelman syndrome
Buckley syndrome
Usher syndrome
Job's syndrome
idiot-savant
achondrogenesis
yellow nail syndrome
aniridia
retinopathy
idiotism
foreign accent syndrome
microencephaly
muscle-eye-brain disease