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

Alpha-mannosidosis

Glycogen Storage Disease, type IV (GSD IV)

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

Autoimmune Lymphoproliferative Syndrome (ALPS)

Leukocyte Adhesion Deficiency (LAD)

Factor XII Deficiency

Glanzmann Thrombasthenia

Haemophilia B

Methemoglobinemia

Hypertrophic Cardiomyopathy (HCM)

Epidermolysis Bullosa Simplex

Inflammatory Linear Verrucous Epidermal Nevus (ILVEN)

Congenital Adrenal Hyperplasia (CAH)

Hypogonadotropic Hypogonadism, congenital (TAC3-related)

Hypothyroidism, congenital

Holoprosencephaly

Brachycephaly, Burmese Head Defect

Congenital Myasthenic Syndrome (CMS)

Ehlers-Danlos Syndrome (classic type)

Fibrodysplasia Ossificans

Hypokalemic Periodic Paralysis (HYPP)

Myotonia Congenita

Spinal Muscular Atrophy (SMA)

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

Glaucoma, primary congenital

Late-Onset Photoreceptor Degeneration (rdAc)

Progressive Retinal Atrophy (AIPL1-related)

Progressive Retinal Atrophy (KIF3B-related)

Rod-Cone Dysplasia (Rdy)

Cystinuria, types IA and B

Polycystic Kidney Disease (PKD)

Primary Hyperoxaluria, type II (Oxalosis II)