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X-linked disorder located on the 23rd chromosome, when Very Long Chain Fatty Acids are found in blood tests it is confirmed and vegetation in children


Defective gene for melanin production - producing pigments, a lack of pigment in the eyes, skin, or hair

Cleft Lip and Palate

Inherited after birth- a Gap in the upper lip or a Roof of the mouth not fused together


is a sex-linked genetic disorder that is a deficiency in the way a person sees colors such as red and green, not actually real blindness


A rare, autosomal dominant disease that includes ainful episodes of soft tissue swelling and the appearance of tumors in subcutis and muscle tissue

Cri Du Chat

the missing of the 5th chromosome that causes Infants with this syndrome to have a high pitched cry that sounds like a cat

Cystic Fibrosis

an autosomal recessive disorder that impacts the mucus glands of the person, affecting their respiratory and digestive systems

Fragile X Syndrome

Caused when the Fragile X Mental Retardation 1 gene (found on the X chromosome) is unable to make usable amounts of the Fragile X Mental Retardation Protein

Huntington's Chorea

a brain disorder that destroys cells in the basal ganglia, which is the part of the brain that controls movement, emotion, and cognitive ability


a genetic disorder of the nervous system that primarily affects the development and growth of the nerve tissues


syndromes cause rapid aging and shortened life span; aging eight times faster than normal

Proteus Syndrome

Mutation on either chromosome 10 or chromosome 16; Partial enlargement of the hands and/or feet; darkened, discolored skin, often raised and rough; overgrowth of one side of the face, body, or limbs

Sickle Cell Anemia

is a disorder in which the body makes a special kind of hemoglobin, type S, and this causes the red blood cells created in the bone marrow to be crescent shaped instead of the usual circular

Tay Sachs disease

caused by mutations on chromosome 15; Symptoms usually show up around 6 months,most patients will die before reaching 5 years old

Trisomy 18 Edward's Syndrome

is a chromosomal condition where there is an extra chromosome with the 18th pair; It affects all systems of the body and causes distinct facial features

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