FTM 1 Genetic Diseases

Autosomal Dominant

M - Myotonic Dystrophy (DM1)

A - Achondroplasia (FRFG3)

N - Neurofibromatosis (NF1)

O - Osteogenesis imperfecta (COL1A1/2)

F - Familial Hypercholemia (LDL)

H - Huntington (Huntingin)

A - Acute Intermittent Porphyria (AIP)

M - Marfan's Syndrome (FBN1)

Autosomal Recessive

Can - Cystic Fibrosis (CFTR)

Someone - Sickle Cell Anemia (Hemoglobin)

Please - Phenylketonuria - PKU (PAH)

Take - Tay-Sacs (HEXA A)

Her - Hemochromatosis

Home - Homocystinuria

Girls - Galactosemia (Lactose)

Always - Alpha 1 Antitrypsin Deficiency

Sh*t - Sever Combined Immunodeficiency - SCID (ADA)

X - Linked Recessive

Do - Duchenne (DMD)

Big - Beckers (DMD)

Guys - GGP Hydrogenase Deficiency (G6P)

Hug - Hemophilia A

Ladies - Lesch-Nyhan (HGPRT)

Real - Red/Green Color Blind

Slow - SCID (SCID X1)

X-Linked Dominant

I - Incontinentia Pigmenti

Regret - Rett’s Syndrome

Visiting - Vitamin D Deficiency (Rickets)

Mitochondrial

Love - Leber Hereditary Optic Neuropathy

My - Mitochondrial Encephalopathy, lactic acidosis, stroke like (MELAS)

Mom - Myoclonic Epilepsy with ragged red muscle fibers (MERRF)

De Novo

M - Marfans

A - Achondroplasia

N -NF1