Familial Enamel Hypoplasia
Intestinal Cobalamin (vitamin B12) Malabsorption
Glycogen Storage Disease Type Ia
Glycogen Storage Disease Type IIIa
Necrotizing Encephalopathy
Neonatal encephalopathy with seizures
Spinocerebellar Ataxia with Myokymia and/or Seizures
Hereditary Sensory and Autonomic Neuropathy, HSAN
Leonberger Polyneuropathy
Neuronal Ceroid Lipofuscinosis type I
Neuronal Ceroid Lipofuscinosis type V
Neuronal Ceroid Lipofuscinosis type VII
Sensory Ataxic Neuropathy
Interstitial Lung Disease
Primary Ciliary Dyskinesia
Congenital Hypothyroidism
Congenital Dyshormonogenic Hypothyroidism with Goiter
Lysosomal storage disease
Mucopolysaccharidosis VII
X-Linked Myotubular Myopathy
Duchenne Muscular Dystrophy
Glycogen Storage Disease Type II
Glycogen Storage Disease Type VII
Exercise-Induced Collapse
Limb Girdle Muscular Dystrophy
Severe Combined Immunodeficiency
Anhidrotic ectodermal dysplasia
Renal Cystadenocarcinoma and Nodular Dermatofibrosis
Pyruvate Dehydrogenase Deficiency
Verrucous Keratinocytic Epidermal Nevus
Hereditary Footpad Hyperkeratosis
Hereditary Nasal parakeratosis
Dystrophic Epidermolysis Bullosa
Epidermolytic Hyperkeratosis
Congenital Stationary Night Blindness
Primary Open-Angle Glaucoma
Progressive Rod-cone Degeneration
Progressive Retinal Atrophy
Primary Closed‐Angle Glaucoma
Congenital Eye Malformation
Macular Corneal Dystrophy
Hereditary Elliptocytosis
Trapped Neutrophil Syndrome
Factor VII Deficiency (Hemophilia A)
Factor VIII Deficiency (Hemophilia A)
Factor IX Deficiency (Hemophilia B)
Von Willebrand Disease Type I
Von Willebrand Disease Type II
Von Willebrand Disease Type III
Pyruvate Kinase Deficiency
Polycystic Kidney Disease
X-Linked Hereditary Nephropathy
Protein Losing Nephropathy
Hereditary Vitamin D-Resistant Rickets
Achondroplasia and Intervertebral Disc Disease (IVDD)
