List of genetic disorders

This is a list of the most common genetic disorders in humans. If known, the type of mutation is shown, and the chromosome involved.

• P – Point mutation, or any insertion/deletion entirely inside one gene
• D – Deletion of a gene or genes
• Dup - Duplication of a gene or genes
• C – Whole chromosome extra, missing, or both (see chromosomal aberrations)
• T – Trinucleotide repeat disorders: gene is extended in length

Many other conditions are known to be partly or wholly inherited, but their genetic basis is not yet clear. A good example is "clefting" (cleft lip and palate), which occurs up to 4 per 1000 in Native Americans and some Asian populations, but which is almost unknown in African populations. About 20 genes are under investigation.

Another important and common example is schizophrenia. Estimates of the heritability of schizophrenia are between 70% and 80%. This means 70% to 80% of the individual differences in risk to schizophrenia is associated with genetics.

Most common disorders

Disorder	Chromosome	Mutation
Angelman syndrome	15 b	DCP
Canavan disease	17p
Charcot–Marie–Tooth disease	17
Color blindness	X	P
Cri du chat syndrome	5	D
Cystic fibrosis	7q	P
DiGeorge syndrome	22q	D
Down syndrome	21	C
Duchenne muscular dystrophy	Xp	D
Familial hypercholesterolemia	19	P
Haemochromatosis type 1	6	P
Haemophilia / Hemophilia	X	P
Klinefelter syndrome	X	C
Neurofibromatosis	17q/22q/?
Phenylketonuria	12q	P
Polycystic kidney disease	16 (PKD1) or 4 (PKD2)	P
Prader–Willi syndrome	15	DCP
Sickle cell disease	11p	P
Spinal muscular atrophy	5q	DP
Tay–Sachs disease	15	P
Turner syndrome	X	C