1q21.1 Microdeletion Syndrome (Rare Diseases / Chromosome Disorders) 1q44 Microdeletion Syndrome (Rare Diseases / Miscellaneous) 1q Duplications (Rare Diseases / Chromosome Disorders) 11-beta-hydroxylase Deficiency (Rare Diseases / Endocrine Diseases) 11-beta-hydroxylase Deficiency (Rare Diseases / Kidney & Urinary Diseases) 11-beta-hydroxylase Deficiency (Rare Diseases / Female Reproductive Diseases) 11-deoxycortisol (Laboratory Medicine / Endocrinology) 12q14 Microdeletion Syndrome (Rare Diseases / Nervous System Diseases) 12q14 Microdeletion Syndrome (Rare Diseases / Musculoskeletal Diseases) 15q11.2 Microdeletion (Rare Diseases / Miscellaneous) 15q13.3 Microdeletion Syndrome (Rare Diseases / Chromosome Disorders) 15q13.3 Microdeletion Syndrome (Rare Diseases / Nervous System Diseases) 15q24 Microdeletion Syndrome (Rare Diseases / Nervous System Diseases) 16p11.2 Deletion Syndrome (Rare Diseases / Chromosome Disorders) 16p13.11 Microduplication Syndrome (Rare Diseases / Miscellaneous) 16q24.3 Microdeletion Syndrome (Rare Diseases / Miscellaneous) 17-alpha-hydroxylase Deficiency (Rare Diseases / Endocrine Diseases) 17-alpha-hydroxylase Deficiency (Rare Diseases / Metabolic Disorders) 17-alpha-hydroxylase Deficiency (Rare Diseases / Female Reproductive Diseases) 17-alpha-hydroxylase Deficiency (Rare Diseases / Male Reproductive Diseases) 17-alpha-hydroxylase Deficiency (Rare Diseases / Kidney & Urinary Diseases) 17-beta Hydroxysteroid Dehydrogenase 3 Deficiency (Rare Diseases / Male Reproductive Diseases) 17-beta Hydroxysteroid Dehydrogenase 3 Deficiency (Rare Diseases / Metabolic Disorders) 17-beta Hydroxysteroid Dehydrogenase 3 Deficiency (Rare Diseases / Endocrine Diseases) 17-beta Hydroxysteroid Dehydrogenase 3 Deficiency (Rare Diseases / Kidney & Urinary Diseases) 17-beta Hydroxysteroid Dehydrogenase 3 Deficiency (Rare Diseases / Female Reproductive Diseases) 17-hydroxyprogesterone (Laboratory Medicine / Endocrinology) 17-ketosteroids (Laboratory Medicine / Endocrinology) 17q12 Deletion Syndrome (Rare Diseases / Miscellaneous) 17q12 Duplication (Rare Diseases / Miscellaneous) 17q23.1q23.2 Microdeletion Syndrome (Rare Diseases / Chromosome Disorders) 18 Hydroxylase Deficiency (Rare Diseases / Endocrine Diseases) 18 Hydroxylase Deficiency (Rare Diseases / Metabolic Disorders) 19p13.12 Microdeletion Syndrome (Rare Diseases / Miscellaneous)

2,4-dienoyl-CoA Reductase Deficiency (Rare Diseases / Newborn Screening) 2-hydroxyglutaric Aciduria (Rare Diseases / Metabolic Disorders) 2-methyl-3-hydroxybutyric Aciduria (Rare Diseases / Metabolic Disorders) 2-methyl-3-hydroxybutyric Aciduria (Rare Diseases / Newborn Screening) 2-methyl-3-hydroxybutyric Aciduria (Rare Diseases / Nervous System Diseases) 2-methylbutyryl-CoA Dehydrogenase Deficiency (Rare Diseases / Metabolic Disorders) 2-methylbutyryl-CoA Dehydrogenase Deficiency (Rare Diseases / Newborn Screening) 2-methylbutyryl-CoA Dehydrogenase Deficiency (Rare Diseases / Nervous System Diseases) 2p15p16.1 Microdeletion Syndrome (Rare Diseases / Miscellaneous) 2q23.1 Microdeletion Syndrome (Rare Diseases / Nervous System Diseases) 2q23.1 Microdeletion Syndrome (Rare Diseases / Chromosome Disorders) 2q37 Deletion Syndrome (Rare Diseases / Nervous System Diseases) 2q37 Deletion Syndrome (Rare Diseases / Musculoskeletal Diseases) 2q37 Deletion Syndrome (Rare Diseases / Chromosome Disorders) 20p12.3 Microdeletion Syndrome (Rare Diseases / Miscellaneous) 21-hydroxylase Deficiency (Rare Diseases / Newborn Screening) 22q11.2 Deletion Syndrome (Rare Diseases / Kidney & Urinary Diseases) 22q11.2 Deletion Syndrome (Rare Diseases / Immune System Diseases) 22q11.2 Deletion Syndrome (Rare Diseases / Chromosome Disorders) 22q11.2 Deletion Syndrome (Rare Diseases / Heart Diseases) 22q11.2 Deletion Syndrome (Rare Diseases / Mouth Diseases) 22q11.2 Deletion Syndrome (Rare Diseases / Endocrine Diseases) 22q11.2 Deletion Syndrome (Rare Diseases / Ear, Nose, & Throat Diseases) 22q11.2 Deletion Syndrome (Rare Diseases / Digestive Diseases) 22q11.2 Deletion Syndrome (Rare Diseases / Nervous System Diseases) 22q11.2 Duplication Syndrome (Rare Diseases / Chromosome Disorders) 22q13.3 Deletion Syndrome (Rare Diseases / Nervous System Diseases)

3 Methylcrotonyl-CoA Carboxylase 1 Deficiency (Rare Diseases / Metabolic Disorders) 3 Methylcrotonyl-CoA Carboxylase 1 Deficiency (Rare Diseases / Newborn Screening) 3 Methylglutaconic Aciduria Type V (Rare Diseases / Newborn Screening) 3-alpha Hydroxyacyl-CoA Dehydrogenase Deficiency (Rare Diseases / Newborn Screening) 3-alpha Hydroxyacyl-CoA Dehydrogenase Deficiency (Rare Diseases / Nervous System Diseases) 3-alpha Hydroxyacyl-CoA Dehydrogenase Deficiency (Rare Diseases / Endocrine Diseases) 3-alpha Hydroxyacyl-CoA Dehydrogenase Deficiency (Rare Diseases / Metabolic Disorders) 3-beta-hydroxysteroid Dehydrogenase Deficiency (Rare Diseases / Endocrine Diseases) 3-beta-hydroxysteroid Dehydrogenase Deficiency (Rare Diseases / Female Reproductive Diseases) 3-beta-hydroxysteroid Dehydrogenase Deficiency (Rare Diseases / Kidney & Urinary Diseases) 3-hydroxyisobutyric Aciduria (Rare Diseases / Metabolic Disorders) 3-methylcrotonyl-CoA Carboxylase Deficiency (Rare Diseases / Newborn Screening) 3-methylcrotonyl-CoA Carboxylase Deficiency (Rare Diseases / Metabolic Disorders) 3-methylglutaconyl-CoA Hydratase Deficiency (Rare Diseases / Metabolic Disorders) 3-methylglutaconyl-CoA Hydratase Deficiency (Rare Diseases / Newborn Screening) 3-quinuclidinyl Benzilate Poisoning (Neurology / Neurotoxicology) 3MC Syndrome (Rare Diseases / Nervous System Diseases) 3M Syndrome (Rare Diseases / Musculoskeletal Diseases) 3q29 Microdeletion Syndrome (Rare Diseases / Miscellaneous)

46,XX Testicular Disorder of Sex Development (Rare Diseases / Kidney & Urinary Diseases) 46,XX Testicular Disorder of Sex Development (Rare Diseases / Male Reproductive Diseases) 46,XX Testicular Disorder of Sex Development (Rare Diseases / Endocrine Diseases) 47 XXX Syndrome (Rare Diseases / Endocrine Diseases) 47 Xxx Syndrome (Rare Diseases / Chromosome Disorders) 47 Xxx Syndrome (Rare Diseases / Female Reproductive Diseases) 47 XYY Syndrome (Rare Diseases / Chromosome Disorders) 48,XXXY Syndrome (Rare Diseases / Endocrine Diseases) 48,XXXY Syndrome (Rare Diseases / Kidney & Urinary Diseases) 48,XXXY Syndrome (Rare Diseases / Nervous System Diseases) 48,XYYY (Rare Diseases / Kidney & Urinary Diseases) 48,XYYY (Rare Diseases / Male Reproductive Diseases) 48,XYYY (Rare Diseases / Nervous System Diseases) 49 Xxxxx Syndrome (Rare Diseases / Chromosome Disorders) 49,XXXXY Syndrome (Rare Diseases / Endocrine Diseases) 49,XXXXY Syndrome (Rare Diseases / Kidney & Urinary Diseases) 49,XXXXY Syndrome (Rare Diseases / Male Reproductive Diseases) 49,XXXXY Syndrome (Rare Diseases / Nervous System Diseases) 49, Xxxyy Syndrome (Rare Diseases / Miscellaneous)

5'-nucleotidase (Laboratory Medicine / Oncology) 5-alpha Reductase Deficiency (Rare Diseases / Endocrine Diseases) 5-alpha Reductase Deficiency (Rare Diseases / Female Reproductive Diseases) 5-alpha Reductase Deficiency (Rare Diseases / Kidney & Urinary Diseases) 5-alpha Reductase Deficiency (Rare Diseases / Male Reproductive Diseases) 5-hydroxyindoleacetic Acid (Laboratory Medicine / Oncology) 5-oxoprolinase Deficiency (Rare Diseases / Metabolic Disorders) 5q- Syndrome (Rare Diseases / Blood Diseases) 5q- Syndrome (Rare Diseases / Rare Cancers) 5q14.3 Microdeletion Syndrome (Rare Diseases / Nervous System Diseases)

6-pyruvoyl-tetrahydropterin Synthase Deficiency (Rare Diseases / Metabolic Disorders) 6-pyruvoyl-tetrahydropterin Synthase Deficiency (Rare Diseases / Nervous System Diseases)

7q11.23 Duplication Syndrome (Rare Diseases / Miscellaneous)

8p23.1 Duplication Syndrome (Rare Diseases / Miscellaneous) 8q12 Microduplication Syndrome (Rare Diseases / Miscellaneous)