Category:Genetic disorders

C

• Channelopathy
• Chromosome instability syndromes

G

• Genes associated with genetic disorders

H

• Hereditary cancers

L

• Leukodystrophies

M

• Migraine
• Mitochondrial diseases
• Muscular dystrophy

P

• Pigment disorders

Σ

• Genetic disorder stubs

• Genetic disorder

*

• List of genetic disorders
• List of human genes
• The genetic basis of heart disease

1

• 11β-hydroxylase deficiency historical perspective
• 11β-hydroxylase deficiency overview
• 13q deletion syndrome
• 17 alpha-hydroxylase deficiency epidemiology and demographics
• 17 alpha-hydroxylase deficiency laboratory findings
• 17-beta-hydroxysteroid dehydrogenase deficiency
• 17-beta-hydroxysteroid dehydrogenase deficiency (patient information)
• 17-beta-hydroxysteroid dehydrogenase deficiency case study one
• 17-beta-hydroxysteroid dehydrogenase deficiency causes
• 17-beta-hydroxysteroid dehydrogenase deficiency classification
• 17-beta-hydroxysteroid dehydrogenase deficiency cost-effectiveness of therapy
• 17-beta-hydroxysteroid dehydrogenase deficiency CT
• 17-beta-hydroxysteroid dehydrogenase deficiency differential diagnosis
• 17-beta-hydroxysteroid dehydrogenase deficiency epidemiology and demographics
• 17-beta-hydroxysteroid dehydrogenase deficiency future or investigational therapies
• 17-beta-hydroxysteroid dehydrogenase deficiency genotyping
• 17-beta-hydroxysteroid dehydrogenase deficiency historical perspective
• 17-beta-hydroxysteroid dehydrogenase deficiency history and symptoms
• 17-beta-hydroxysteroid dehydrogenase deficiency laboratory findings
• 17-beta-hydroxysteroid dehydrogenase deficiency medical therapy
• 17-beta-hydroxysteroid dehydrogenase deficiency molecular genetic studies
• 17-beta-hydroxysteroid dehydrogenase deficiency natural history, complications and prognosis
• 17-beta-hydroxysteroid dehydrogenase deficiency other diagnostic studies
• 17-beta-hydroxysteroid dehydrogenase deficiency other imaging findings
• 17-beta-hydroxysteroid dehydrogenase deficiency overview
• 17-beta-hydroxysteroid dehydrogenase deficiency pathophysiology
• 17-beta-hydroxysteroid dehydrogenase deficiency pelvic x ray
• 17-beta-hydroxysteroid dehydrogenase deficiency physical examination
• 17-beta-hydroxysteroid dehydrogenase deficiency primary prevention
• 17-beta-hydroxysteroid dehydrogenase deficiency risk factors
• 17-beta-hydroxysteroid dehydrogenase deficiency screening
• 17-beta-hydroxysteroid dehydrogenase deficiency secondary prevention
• 17-beta-hydroxysteroid dehydrogenase deficiency surgical therapy
• 17-beta-hydroxysteroid dehydrogenase deficiency ultrasound
• 17-beta-hydroxysteroid dehydrogenase deficiency x ray
• 1p36 deletion syndrome

2

• 2,8 dihydroxy-adenine urolithiasis
• 2-Hydroxyglutaric aciduria
• 2-Hydroxyglutaricaciduria
• 2-Methylbutyryl-CoA dehydrogenase deficiency
• 21-hydroxylase deficiency
• 21-hydroxylase deficiency (patient information)
• 21-Hydroxylase Deficiency (patient information)
• 21-Hydroxylase Deficiency case study one
• 21-Hydroxylase Deficiency causes
• 21-hydroxylase deficiency causes
• 21-Hydroxylase Deficiency classification
• 21-hydroxylase deficiency classification
• 21-Hydroxylase Deficiency cost-effectiveness of therapy
• 21-Hydroxylase Deficiency CT
• 21-hydroxylase deficiency CT
• 21-Hydroxylase Deficiency differential diagnosis
• 21-hydroxylase deficiency differential diagnosis
• 21-hydroxylase deficiency electrocardiogram
• 21-Hydroxylase Deficiency epidemiology and demographics
• 21-hydroxylase deficiency epidemiology and demographics
• 21-Hydroxylase Deficiency future or investigational therapies
• 21-Hydroxylase Deficiency genotyping
• 21-Hydroxylase Deficiency historical perspective
• 21-hydroxylase deficiency historical perspective
• 21-Hydroxylase Deficiency history and symptoms
• 21-hydroxylase deficiency history and symptoms
• 21-Hydroxylase Deficiency laboratory findings
• 21-hydroxylase deficiency laboratory findings
• 21-Hydroxylase Deficiency medical therapy
• 21-hydroxylase deficiency medical therapy
• 21-Hydroxylase Deficiency molecular genetic studies
• 21-hydroxylase deficiency MRI
• 21-Hydroxylase Deficiency natural history, complications and prognosis
• 21-hydroxylase deficiency natural history, complications and prognosis
• 21-Hydroxylase Deficiency other diagnostic studies
• 21-hydroxylase deficiency other diagnostic studies
• 21-Hydroxylase Deficiency other imaging findings
• 21-hydroxylase deficiency other imaging findings
• 21-Hydroxylase Deficiency overview
• 21-hydroxylase deficiency overview
• 21-Hydroxylase Deficiency pathophysiology
• 21-hydroxylase deficiency pathophysiology
• 21-Hydroxylase Deficiency pelvic x ray
• 21-Hydroxylase Deficiency physical examination
• 21-hydroxylase deficiency physical examination
• 21-Hydroxylase Deficiency primary prevention
• 21-hydroxylase deficiency primary prevention
• 21-Hydroxylase Deficiency risk factors
• 21-hydroxylase deficiency risk factors
• 21-Hydroxylase Deficiency screening
• 21-hydroxylase deficiency screening
• 21-Hydroxylase Deficiency secondary prevention
• 21-hydroxylase deficiency secondary prevention
• 21-Hydroxylase Deficiency social issues
• 21-Hydroxylase Deficiency surgery
• 21-hydroxylase deficiency surgery
• 21-Hydroxylase Deficiency ultrasound
• 21-hydroxylase deficiency ultrasound
• 21-hydroxylase deficiency x ray
• 22q13 deletion syndrome

3

• 3 hydroxyisobutyric aciduria
• 3 methylcrotonic aciduria
• 3-hydroxy-3-methylglutaryl-CoA lyase deficiency
• 3-hydroxyacyl-coenzyme A dehydrogenase deficiency
• 3-Methylcrotonyl-CoA carboxylase deficiency

4

• 48, XXXX
• 48, XXYY
• 49 XXXXY syndrome
• 49, XXXXX

5

• 5-alpha-reductase deficiency case study one
• 5-alpha-reductase deficiency causes
• 5-alpha-reductase deficiency classification
• 5-alpha-reductase deficiency cost-effectiveness of therapy
• 5-alpha-reductase deficiency CT
• 5-alpha-reductase deficiency differential diagnosis
• 5-alpha-reductase deficiency electrocardiogram
• 5-alpha-reductase deficiency epidemiology and demographics
• 5-alpha-reductase deficiency future or investigational therapies
• 5-alpha-reductase deficiency genotyping
• 5-alpha-reductase deficiency historical perspective
• 5-alpha-reductase deficiency history and symptoms
• 5-alpha-reductase deficiency laboratory findings
• 5-alpha-reductase deficiency medical therapy
• 5-alpha-reductase deficiency molecular genetic studies
• 5-alpha-reductase deficiency natural history, complications and prognosis
• 5-alpha-reductase deficiency other diagnostic studies
• 5-alpha-reductase deficiency other imaging findings
• 5-alpha-reductase deficiency overview
• 5-alpha-reductase deficiency pathophysiology
• 5-alpha-reductase deficiency pelvic x ray
• 5-alpha-reductase deficiency physical examination
• 5-alpha-reductase deficiency primary prevention
• 5-alpha-reductase deficiency risk factors
• 5-alpha-reductase deficiency screening
• 5-alpha-reductase deficiency secondary prevention
• 5-alpha-reductase deficiency surgery
• 5-alpha-reductase deficiency ultrasound

6

• 6-Pyruvoyltetrahydropterin synthase deficiency

A

• Aarskog-Scott syndrome
• Aarskog-Scott syndrome (patient information)
• Aase syndrome
• ABCD syndrome
• Abdallat Davis Farrage syndrome
• Abderhalden-Kaufmann-Lignac syndrome
• Abderhalden-Kaufmann-Lignac syndrome historical perspective
• Abderhalden-Kaufmann-Lignac syndrome history and symptoms
• Abderhalden-Kaufmann-Lignac syndrome overview
• Ablepharon macrostomia syndrome
• Absent radius
• Acatalasemia
• Aceruloplasminemia
• Acheiropodia
• Achondroplasia
• Achondroplasia (patient information)
• Acrocallosal syndrome
• Acrodermatitis enteropathica
• Acrofacial dysostosis
• Acromegaly case study one
• Acromegaly cost-effectiveness of therapy
• Acromegaly future or investigational therapies
• Acute intermittant porphyria
• Adducted thumb syndrome
• Adenoma of the thyroid (patient information)
• Adenoma of the thyroid case study one
• Adenoma of the thyroid fine-needle aspiration biopsy (FNAB)
• Adenoma of the thyroid overview
• Adenoma of the thyroid pathophysiology
• Adenoma of the thyroid radionuclide imaging
• Adenylosuccinate lyase deficiency
• Adiposogenital dystrophy case study one
• Adiposogenital dystrophy causes
• Adiposogenital dystrophy classification
• Adiposogenital dystrophy cost-effectiveness of therapy
• Adiposogenital dystrophy CT
• Adiposogenital dystrophy differential diagnosis
• Adiposogenital dystrophy electrocardiogram
• Adiposogenital dystrophy epidemiology and demographics
• Adiposogenital dystrophy future or investigational therapies
• Adiposogenital dystrophy head x ray
• Adiposogenital dystrophy historical perspective
• Adiposogenital dystrophy history and symptoms
• Adiposogenital dystrophy laboratory findings
• Adiposogenital dystrophy medical therapy
• Adiposogenital dystrophy MRI
• Adiposogenital dystrophy natural history, complications and prognosis
• Adiposogenital dystrophy other diagnostic studies
• Adiposogenital dystrophy other imaging findings
• Adiposogenital dystrophy overview
• Adiposogenital dystrophy pathophysiology
• Adiposogenital dystrophy physical examination
• Adiposogenital dystrophy primary prevention
• Adiposogenital dystrophy risk factors
• Adiposogenital dystrophy screening
• Adiposogenital dystrophy secondary prevention
• Adiposogenital dystrophy surgery
• Adiposogenital dystrophy vision test
• Adrenal atrophy case study one
• Adrenal atrophy causes
• Adrenal atrophy classification
• Adrenal atrophy cost-effectiveness of therapy