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Genetic Cause: Trisomy 21, an extra copy of chromosome 21. Phenotypic Effect: Intellectual disability, characteristic facial features.

Genetic Cause: Mutation in FBN1 gene affecting connective tissue. Phenotypic Effect: Tall stature, heart defects, long limbs and fingers.

Genetic Cause: Mutation in FGFR3 gene affects bone growth. Phenotypic Effect: Dwarfism, short limbs, normal trunk size.

Genetic Cause: Mutation in genes for branched-chain amino acid metabolism. Phenotypic Effect: Sweet-smelling urine, neurologic deficits, intellectual disability.

Genetic Cause: Mutation in the CFTR gene. Phenotypic Effect: Mucus buildup in lungs, difficulty breathing, and infections.

Genetic Cause: Mutation in UGT1A1 gene affecting bilirubin conjugation. Phenotypic Effect: High levels of unconjugated bilirubin, jaundice, risk of brain damage.

Genetic Cause: Mutation in HEXA gene. Phenotypic Effect: Neurodegeneration in infancy, death by age 4.

Genetic Cause: Mutations in the DMD gene. Phenotypic Effect: Muscle weakness and degeneration.

Genetic Cause: Presence of a single X chromosome in females, 45,X. Phenotypic Effect: Short stature, infertility, heart defects.

Genetic Cause: Mutation in one of several genes affecting melanin production. Phenotypic Effect: Lack of pigment in the skin, hair, and eyes; vision problems.

Genetic Cause: Presence of an extra X chromosome in males, 47,XXY. Phenotypic Effect: Male infertility, reduced facial and body hair, gynecomastia.

Genetic Cause: Mutation in GBA gene affecting glucocerebrosidase. Phenotypic Effect: Splenomegaly, bone pain, anemia, neuronopathy.

Genetic Cause: CGG repeat expansion in FMR1 gene. Phenotypic Effect: Intellectual disability, behavioral problems, distinctive facial features.

Genetic Cause: Mutation in MECP2 gene. Phenotypic Effect: Loss of speech and motor skills, repetitive hand movements, seizures.

Genetic Cause: Mutation in ATP7B gene affects copper metabolism. Phenotypic Effect: Liver disease, neurological symptoms, Kayser-Fleischer rings.

Genetic Cause: Mutation in genes affecting peripheral nerves, such as PMP22. Phenotypic Effect: Progressive muscle weakness and atrophy, sensory loss.

Genetic Cause: Mutation in PAH gene leads to lack of phenylalanine hydroxylase. Phenotypic Effect: Intellectual disability, musty body odor, lighter skin.

Genetic Cause: Loss of function of maternal UBE3A gene on chromosome 15. Phenotypic Effect: Intellectual disability, lack of speech, ataxia, seizures.

Genetic Cause: Loss of function of paternal genes on chromosome 15. Phenotypic Effect: Hyperphagia, obesity, intellectual disability, hypotonia.

Genetic Cause: Mutation or deletion of SMN1 gene affecting motor neurons. Phenotypic Effect: Muscle weakness and atrophy, respiratory problems.

Genetic Cause: Mutation in HBB gene causing hemoglobin structure change. Phenotypic Effect: Crescent-shaped red blood cells, anemia, and pain.

Genetic Cause: CAG repeat expansion in HTT gene. Phenotypic Effect: Neurodegeneration, movement disorders, psychiatric symptoms.

Genetic Cause: Mutations in F8 or F9 gene leading to clotting factor deficiency. Phenotypic Effect: Excessive bleeding and bruising.

Genetic Cause: Mutation in BLM gene leading to chromosome instability. Phenotypic Effect: Short stature, sun-sensitive facial rash, increased cancer risk.

Genetic Cause: Mutation in NF1 gene. Phenotypic Effect: Café-au-lait spots, neurofibromas, Lisch nodules, learning disabilities.

Genetic Cause: Mutation in NF2 gene. Phenotypic Effect: Bilateral vestibular schwannomas, spinal tumors, cataracts.

Genetic Cause: Mutation or deletion in alpha or beta globin genes. Phenotypic Effect: Anemia, fatigue, growth delay, splenomegaly.

Genetic Cause: Mutation in DMD gene with partially functional dystrophin. Phenotypic Effect: Gradual muscle weakening, walking difficulties, cardiomyopathy.

Genetic Cause: Mutation in TSC1 or TSC2 gene. Phenotypic Effect: Benign tumors called hamartomas, skin abnormalities, neurological problems.

Genetic Cause: Mutation in VWF gene affects blood clotting. Phenotypic Effect: Bleeding gums, nosebleeds, heavy menstrual bleeding.

Genetic Cause: Mutation in nucleotide excision repair genes. Phenotypic Effect: Extreme sensitivity to sunlight, skin cancers, neurological abnormalities.

Genetic Cause: Mutation in genes like PAX3 that affects melanocytes. Phenotypic Effect: Pigmentary abnormalities of the skin, hair, eyes; hearing loss.

Genetic Cause: Mutation in LMNA gene affecting nuclear structure. Phenotypic Effect: Premature aging, growth delay, cardiovascular disease.