Category:All articles to be expanded

1

• 10p13-p14 Deletion Syndrome
• 11-beta-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
• 16p11.2 Deletion Syndrome
• 17-alpha-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
• 17-beta Hydroxysteroid Dehydrogenase III Deficiency
• 17q21.31 Microdeletion Syndrome
• 1p36 Deletion Syndrome
• 1q21.1 Deletion Syndrome

2

• 2,4-Dienoyl-CoA Reductase Deficiency
• 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
• 22q11.2 Deletion Syndrome
• 22q11.2 Duplication
• 22q13.3 Deletion Syndrome
• 2p16.1-p15 Deletion Syndrome
• 2q37 Deletion Syndrome

3

• 3-beta-Hydroxysteriod Dehydrogenase-Deficient Congenital Adrenal Hyperplasia
• 3-Hydroxy-3-Methylglutaryl-Coenzyme A Lyase Deficiency
• 3-Hydroxyacyl-Coenzyme A Dehydrogenase Deficiency
• 3-M Syndrome
• 3-Methylcrotonyl-CoA Carboxylase Deficiency
• 3-Methylglutaconic Aciduria Type 1
• 3-Methylglutaconic Aciduria Type 2
• 3-Methylglutaconic Aciduria Type 3
• 3-Methylglutaconic Aciduria Type 5
• 3-Oxoacid CoA Transferase Deficiency
• 3q29 Deletion Syndrome

4

• 46,XX Testicular Disorder of Sex Development
• 46,XY Disorder of Sex Development and 46,XY Complete Gonadal Dysgenesis

5

• 5-Oxoprolinuria
• 5q22 Deletion Syndrome

6

• 6-Pyruvoyltetrahydropterin Synthase Deficiency

9

• 9q34 Deletion Syndrome

A

• Aarskog Syndrome
• ABCA1-Associated Familial High Density Lipoprotein Deficiency
• ABCA1-Related Disorders
• ABCA1-Related Familial High Density Lipoprotein Deficiency
• ABCA12-Related Autosomal Recessive Congenital Ichthyosis
• ABCA3-Related Pulmonary Surfactant Metabolism Dysfunction
• ABCA4-Related Retinitis Pigmentosa
• ABCA4-Related Stargardt Disease 1
• ABCB11-Related Intrahepatic Cholestasis
• ABCC8-Related Hyperinsulinism
• ABCC8-Related Permanent Neonatal Diabetes Mellitus
• ABCC8-Related Transient Neonatal Diabetes Mellitus 2
• ABCC9-Related Dilated Cardiomyopathy
• Abdominal Aortic Aneurysms
• Absence of Ulna and Fibula with Severe Limb Deficiency
• Aceruloplasminemia
• Achalasia-Addisonianism-Alacrima Syndrome
• Achondrogenesis Type 1A
• Achondrogenesis Type 1B
• Achondrogenesis Type 2
• Achondroplasia
• Achromatopsia
• Achromatopsia 2
• Achromatopsia 3
• Achromatopsia 4
• Acid Sphingomyelinase Deficiency
• Acro-Renal-Ocular Syndrome
• Acrocephalopolysyndactyly Type II
• Acrofacial Dysostosis 1, Nager Type
• Acromegaly due to Growth Hormone-Secreting Pituitary Adenoma
• Acromesomelic Dysplasia, Hunter-Thompson Type
• Acromesomelic Dysplasia, Maroteaux Type
• Acromicric Dysplasia
• ACTA1-Related Congenital Fiber-Type Disproportion
• ACTA1-Related Nemaline Myopathy

A cont.

• ACTC1-Related Dilated Cardiomyopathy
• ACTC1-Related Familial Hypertrophic Cardiomyopathy
• ACTH Deficiency
• ACTN2-Related Dilated Cardiomyopathy
• ACTN2-Related Familial Hypertrophic Cardiomyopathy
• Acute Hepatic Porphyria
• Acute Intermittent Porphyria
• Acute Necrotizing Encephalopathy, Autosomal Dominant
• ACVRL1-Related Hereditary Hemorrhagic Telangiectasia
• Acyl-CoA Dehydrogenase 9 Deficiency
• Acyl-CoA Dehydrogenase, Short/Branched Chain Deficiency
• Adams-Oliver Syndrome
• ADAMTS10-Related Weill-Marchesani Syndrome
• Adenine Phosphoribosyltransferase Deficiency
• Adenosine Deaminase Deficiency
• Adenosine Monophosphate Deaminase 1
• Adenylosuccinase Deficiency
• Adrenoleukodystrophy, X-Linked
• Adult Polyglucosan Body Disease
• ADULT Syndrome
• Afibrinogenemia, Congenital
• Age-Related Macular Degeneration
• Age-Related Macular Degeneration 1
• Age-Related Macular Degeneration 2
• Age-Related Macular Degeneration 3
• Age-Related Macular Degeneration 4
• Age-Related Macular Degeneration 5
• Age-Related Macular Degeneration 6
• Age-Related Macular Degeneration 7
• Age-Related Macular Degeneration 8
• AGRN-Related Congenital Myasthenic Syndrome
• AHI1-Related Joubert Syndrome
• Aicardi Syndrome
• Aicardi-Goutieres Syndrome
• AIPL1-Related Leber Congenital Amaurosis
• AIPL1-Related Retinitis Pigmentosa
• Alagille Syndrome
• Albright Hereditary Osteodystrophy
• Aldolase A Deficiency
• Alexander Disease
• ALK-Related Neuroblastoma Susceptibility
• Alkaptonuria
• Alopecia and T-Cell Immunodeficiency
• Alopecia Universalis
• ALOX12B-Related Autosomal Recessive Congenital Ichthyosis
• ALOXE3-Related Autosomal Recessive Congenital Ichthyosis
• Alpers-Huttenlocher Syndrome
• Alpha-B Crystallinopathy
• Alpha-Mannosidosis
• Alpha-Methylacyl-CoA Racemase Deficiency
• Alpha-Sarcoglycanopathy
• Alpha-Thalassemia
• Alpha-Thalassemia X-Linked Mental Retardation Syndrome
• Alpha1-Antitrypsin Deficiency
• ALS2-Related Disorders
• Alstrom Syndrome
• Alzheimer Disease
• Alzheimer Disease Risk Factor (APOE Genotype)
• Alzheimer Disease Type 1
• Alzheimer Disease Type 2
• Alzheimer Disease Type 3
• Alzheimer Disease Type 4
• Alzheimer Disease Type 5
• Amegakaryocytic Thrombocytopenia, Congenital
• Amino Adipic Aciduria
• Amish Lethal Microcephaly
• AMT-Related Glycine Encephalopathy

A cont.

• Amyloidosis V
• Amyotrophic Lateral Sclerosis
• Amyotrophic Lateral Sclerosis with Frontotemporal Dementia
• Anauxetic Dysplasia
• Andersen Syndrome Type 1
• Andersen Syndrome Type 2
• Andersen-Tawil Syndrome
• Androgen Insensitivity Syndrome
• ANG-Related Amyotrophic Lateral Sclerosis
• Angelman Syndrome
• Angiokeratoma Corporis Diffusum with Arteriovenous Fistulas
• Anhaptoglobinemia
• Aniridia
• ANKRD1-Related Dilated Cardiomyopathy
• Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
• Ankylosing Spondylitis Risk Factor
• Anonychia Congenita
• ANOP1-Related Lenz Microphthalmia Syndrome
• Anophthalmia/Microphthalmia
• Antenatal Bartter Syndrome Type 1
• Antenatal Bartter Syndrome Type 2
• Anterior Segment Mesenchymal Dysgenesis
• Antithrombin-III Deficiency
• Antley-Bixler Syndrome
• APC-Associated Polyposis Conditions
• Apert Syndrome
• Aplasia Cutis Congenita
• Aplastic Anemia
• APOA1-Associated Familial High Density Lipoprotein Deficiency
• Apolipoprotein C-II Deficiency
• Apparent Mineralocorticoid Excess Syndrome
• Arginase Deficiency
• Argininosuccinicaciduria
• ARHGEF9-Related Hyperekplexia
• ARL13B-Related Joubert Syndrome
• ARL6-Related Bardet-Biedl Syndrome
• Aromatase Deficiency
• Aromatic L-Amino Acid Decarboxylase Deficiency
• Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy 1
• Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy 2
• Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy 3
• Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy 4
• Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy 5
• Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy 6
• Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy 7
• Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy 8
• Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy 9
• Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy, Autosomal Dominant
• Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy10
• Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy11
• Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy12
• ARSACS
• Arterial Tortuosity Syndrome
• Arthrogryposis Multiple Congenita, Ophthalmoplegia, Ptosis
• Arthrogryposis Multiplex Congenita, Distal, Type 1
• Arthrogryposis Multiplex Congenita, Distal, Type 2B
• Arts Syndrome
• ARX-Related Disorders
• Arylsulfatase A Deficiency
• Aspartylglycosaminuria
• Asphyxiating Thoracic Dystrophy
• Asthma, Susceptibility to
• Ataxia with Oculomotor Apraxia 1
• Ataxia with Oculomotor Apraxia 2
• Ataxia with Vitamin E Deficiency
• Ataxia-Telangiectasia