Primary Hyperoxaluria, type II (Oxalosis II)

Polycystic Kidney Disease (PKD)

Cystinuria, types IA and B

Rod-Cone Dysplasia (Rdy)

Progressive Retinal Atrophy (KIF3B-related)

Progressive Retinal Atrophy (AIPL1-related)

Late-Onset Photoreceptor Degeneration (rdAc)

Glaucoma, primary congenital

Vitamin D-Dependent Rickets (VDDR), types IA and IB

Spinal Muscular Atrophy (SMA)

Myotonia Congenita

Hypokalemic Periodic Paralysis (HYPP)

Fibrodysplasia Ossificans

Ehlers-Danlos Syndrome (classic type)

Congenital Myasthenic Syndrome (CMS)

Brachycephaly, Burmese Head Defect

Holoprosencephaly

Hypothyroidism, congenital

Hypogonadotropic Hypogonadism, congenital (TAC3-related)

Congenital Adrenal Hyperplasia (CAH)

Inflammatory Linear Verrucous Epidermal Nevus (ILVEN)

Epidermolysis Bullosa Simplex

Glycogen Storage Disease, type IV (GSD IV)

Alpha-mannosidosis

Dihydropyrimidinuria

Hyperlipoproteinaemia

Mucolipidosis, type II

Mucopolysaccharidosis, types I, VI and VII

Neuronal Ceroid Lipofuscinosis (NCL)

Niemann-Pick Disease, types C1, C2, A

Porphyria, congenital erythropoietic (CEP) or acute intermittent (AIP)

Pyruvate Kinase (PK) Deficiency

Wilson's Disease

Gangliosidosis, types GM1 and GM2 (variants 0 and AB)

Autoimmune Lymphoproliferative Syndrome (ALPS)

Leukocyte Adhesion Deficiency (LAD)

Factor XII Deficiency

Glanzmann Thrombasthenia

Haemophilia B

Methemoglobinemia

Hypertrophic Cardiomyopathy (HCM)