List of genetic disorders facts for kids

Kids Encyclopedia Facts

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
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.

Most common disorders

Disorder	Mutation or gene	Chromosome
22q11.2 deletion syndrome	D	22q
Angelman syndrome	DCP	15
Canavan disease	ASPA	17p
Coeliac disease	DQ2.5	6
Charcot–Marie–Tooth disease	MFN2	17
Color blindness	P	X
Cri du chat	D	5
Cystic fibrosis	P	7q
Down syndrome	C	21
Duchenne muscular dystrophy	D	Xp
Haemochromatosis	P	6
Haemophilia	P	X
Joubert syndrome	21 different loci
Klinefelter syndrome	C	X
Neurofibromatosis	NF1/NF2	17q/22q/?
Phenylketonuria	P	12q
Polycystic kidney disease	P	16 (PKD1) or 4 (PKD2)
	DC	15
Sickle-cell disease	P	11p
Tay–Sachs disease	P	15
β-Thalassaemia	HBB	11
Turner syndrome	C	X

Images for kids

Duchenne muscular dystrophy
A cherry red spot, which can be a feature of several storage disorders, including Tay–Sachs disease

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List of genetic disorders Facts for Kids. Kiddle Encyclopedia.