Similar to ソトス症候群

Mitochondrial disease

Persistent Müllerian duct syndrome

Maple syrup urine disease

Leber's hereditary optic neuropathy

Lesch–Nyhan syndrome

Monilethrix

Neuromyotonia

Klippel–Feil syndrome

Tetra-amelia syndrome

Poland syndrome

Lysosomal storage disease

Congenital diaphragmatic hernia

Genetic disorder

Trisomy 16

DiGeorge syndrome

Chromosome 5q deletion syndrome

ATR-X syndrome

FG syndrome

MELAS syndrome

Alport syndrome

Hereditary sensory and autonomic neuropathy

Williams syndrome

Werner syndrome

Orotic aciduria

Cowden syndrome

Kallmann syndrome

Gangliosidosis

Gitelman syndrome