Rod-Cone Dysplasia (Rdy)

Glaucoma, primary congenital

Late-Onset Photoreceptor Degeneration (rdAc)

Progressive Retinal Atrophy (KIF3B-related)

Progressive Retinal Atrophy (AIPL1-related)

Spinal Muscular Atrophy (SMA)

Congenital Myasthenic Syndrome (CMS)

Brachycephaly, Burmese Head Defect

Ehlers-Danlos Syndrome (classic type)

Fibrodysplasia Ossificans

Hypokalemic Periodic Paralysis (HYPP)

Myotonia Congenita

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

Holoprosencephaly

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

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)

Glycogen Storage Disease, type IV (GSD IV)

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

Cystinuria, types IA and B

Polycystic Kidney Disease (PKD)

Primary Hyperoxaluria, type II (Oxalosis II)

Periodontal Disease

Tooth Resorption

Bad Breath (Halitosis)