- 22q11.2 Deletion Syndrome
- Acatalasaemia
- Achondroplasia
- Agenesis of the Corpus Callosum
- Albinism
- Alkaptonuria
- Alpha-1-Antitrypsin Deficiency
- Alport's Syndrome
- Alström's Syndrome
- Ambiguous Genitalia
- Aminoacidurias
- Anderson-Fabry Disease
- Angelman's Syndrome
- Arthrogryposis Multiplex Congenita
- Ataxia with Telangiectasia
- Atrial Septal Defect
- Autoimmune Lymphoproliferative Syndrome
- Autosomal Dominant Cerebellar Ataxia
- Autosomal Recessive Polycystic Kidney Disease
- Bardet-Biedl Syndrome
- Batten's Syndrome
- Becker's Muscular Dystrophy
- Beckwith-Wiedemann Syndrome
- Benign Congenital Hypotonia (Symptoms and Management)
- Bernard-Soulier Syndrome
- Beta Hex Deficiency
- Biliary Atresia
- Biotinidase Deficiency
- Bleeding Disorders
- Bowel (Colonic) Polyps
- Bowen-Armstrong Syndrome
- Bruton's Agammaglobulinaemia
- Cardiomyopathies
- Cerebral Autosomal Dominant Arteriopathy
- Charcot-Marie-Tooth Disease
- Chediak-Higashi Syndrome
- Chiari Malformations
- Childhood and Congenital Hypothyroidism
- Choledochal Cysts
- Chronic Granulomatous Disease
- Cleft Lip and Palate
- Coloboma
- Colour Vision and its Disorders
- Complement Deficiencies
- Congenital Adrenal Hyperplasia
- Congenital Diaphragmatic Hernia
- Congenital Ear Problems
- Congenital Gastrointestinal Malformations
- Congenital Heart Disease in Adults
- Congenital Heart Disease in Children
- Congenital HIV and Childhood AIDS
- Congenital Nasal Problems
- Congenital Throat Problems
- Congenital Urogenital Malformations
- Congenital, Perinatal and Neonatal Infections
- Cornelia De Lange Syndrome
- Cri du Chat Syndrome
- Crigler-Najjar Syndrome
- Cystic Fibrosis
- Cytomegalovirus (Causes, Symptoms, and Treatment)
- Dandy-Walker Syndrome
- Diamond-Blackfan Syndrome
- Diaphyseal Aclasis
- Down's Syndrome (Trisomy 21)
- Dubin-Johnson Syndrome
- Duchenne Muscular Dystrophy
- Ebstein's Anomaly
- Edwards' Syndrome (Trisomy 18)
- Ehlers-Danlos Syndromes
- Eisenmenger's Syndrome
- Endocardial Fibroelastosis
- Exomphalos and Gastroschisis
- Factor V Leiden Mutation Causing Thrombophilia
- Fallot's Tetralogy
- Familial Benign Pemphigus (Hailey-Hailey Disease)
- Familial Mediterranean Fever
- Fanconi's Anaemia
- Favism
- Female Genital Abnormalities
- Fragile X Syndrome (Causes, Symptoms and Treatment)
- Friedreich's Ataxia
- Galactosaemia
- Gaucher's Disease
- Gene Therapy
- Gilbert's Syndrome
- Glucose-6-phosphate Dehydrogenase Deficiency
- Glutaric Acidaemia
- Glycogen Storage Disorders
- Goldenhar's Syndrome
- Grey Platelet Syndrome
- Haemangiomata of Skin
- Haemophilia A (Factor VIII Deficiency)
- Haemophilia B (Factor IX Deficiency)
- Hamartomas
- Hereditary Angio-oedema
- Hereditary Haemochromatosis (Causes, Symptoms, and Treatment)
- Hereditary Retinal Dystrophies
- Hereditary Spherocytosis
- Homocystinuria
- Hunter's Syndrome
- Huntington's Disease (Causes, Symptoms, and Treatment)
- Hyperaldosteronism
- Hypermobility Syndrome (Causes, Symptoms, and Treatment)
- Hyperoxaluria
- Hypokalaemic Alkalosis
- Hypokalaemic Periodic Paralysis