Spinal muscular atrophy (SMA) is a group of genetic disorders, caused by a change in the SMN1 gene. SMN1 gene is responsible for producing a protein that the motor neurons need to be healthy and function. When part of the SMN1 gene is missing or abnormal, there isn't enough protein for the motor neurons, thus the muscles start to weaken.

Phenylketonuria (PKU) is a genetic disorder, passed from both parents, in which an infant's body lacks the ability to properly break down an amino acid called phenylalanine. As a result, PKU leads to increased levels of phenylalanine, which harms the central nervous system, leading to brain damage and mental disability.

MDP syndrome, also known as mandibular dysplasia with deafness and progeroid features, is an extremely rare metabolic disorder that prevents fatty tissue from being stored underneath the skin. It is only known to affect a very small number of people worldwide - less than 12 cases have been diagnosed as of December 2014.

Metachromatic leukodystrophy (MLD) is a rare hereditary disease characterized by accumulation of fats called sulfatides. This causes the destruction of the protective fatty layer (myelin sheath) surrounding the nerves in both the central and the peripheral nervous, ultimately affecting both intellectual and motor function.

Prader–Willi syndrome (PWS) is a genetic disorder caused by a loss of function of specific genes on chromosome 15. In newborns, symptoms include weak muscles, poor feeding, and slow development. Beginning in childhood, those affected develop insatiable appetite, which often leads to obesity and type 2 diabetes.

Patau syndrome is a rare genetic disorder caused by having an additional copy of chromosome 13 in some or all of the body's cells. It's also called trisomy 13. The extra genetic material disrupts normal development, causing multiple and complex organ defects. Patau syndrome affects somewhere between 1 in 10,000 and 1 in 21,700 births.

Edwards syndrome, also known as Trisomy 18, is a genetic disorder caused by the presence of a third copy of all or part of chromosome 18. Many parts of the body are affected. Babies are often born small and have heart defects. Other features include a small head, small jaw, clenched fists with overlapping fingers, and severe intellectual disability.

Down syndrome is the condition where a child is born with an extra copy of their 21st chromosome, also known as trisomy 21. It is the most common genetic chromosomal disorder, causing physical and mental developmental delays and disabilities in children, and occasionally other medical abnormalities, including heart and gastrointestinal disorders.

Turner syndrome, a condition that affects only females, occurs when one of the X chromosomes is missing or partially missing. Turner syndrome can cause a variety of medical and developmental problems, including short height, failure of the ovaries and heart defects. It can be diagnosed prenatally, during infancy or in early childhood.

Klinefelter syndrome, sometimes called Klinefelter's, KS or XXY, is caused by an additional X chromosome in boys. Some boys have no obvious signs or symptoms while others may have varying degrees of cognitive, social, behavioral, and learning difficulties. Klinefelter syndrome affects around 1 in every 660 males worldwide.

Cystic fibrosis (CF) is a genetic disorder caused by mutations in the CFTR gene. CF causes the mucus to be thick and sticky, causing breathing problems and making it easy for bacteria to grow. This can lead to repeated lung infections and lung damage. CF affects mostly lungs, pancreas, liver, intestines, sinuses, and sex organs.

Duchenne muscular dystrophy (DMD) is a genetic disorder, which involves quickly worsening muscle weakness. It is caused by a defective gene for dystrophin - a protein in the muscles -, and often occurs in people without a known family history of the condition. The condition mostly affects boys and rarely girls.