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Chondrodystrophy and intervertebral Disc Disease
|
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Ciliary Dyskinesia
|
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Cleft Lip with Syndactyly
|
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Cleft Lip/Palate
|
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Cobalamin Malabsorption
|
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Collie Eye Anomaly/Choroidal Hypoplasia
|
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Color Dilution Alopecia
|
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Complement 3 (C3) deficiency
|
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Cone Degeneration
|
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Cone‐Rod Dystrophy (1, 2, 3, 4, SWD)
|
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Congenital Hypothyroidism with Goiter
|
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Congenital Keratoconjunctivities Sicca and Ichthyosiform Dermatosis
|
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Congenital Macrothrombocytopenia
|
|
Congenital Myasthenic Syndrome
|
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Congenital Stationary Night Blindness
|
|
Copper Toxicosis
|
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Craniomandibular Osteopathy
|
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Curly Coat Dry Eye Syndrome
|
|
Cyclic Hematopoiesis
|
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Cyclic Neutropenia
|
|
Cystic renal Dysplasia and Hepatic Fibrosis
|
|
Cystinuria (Types I‐A, II‐A, II‐B)
|
|
Dandy–Walker Malformation
|
|
Day Blindess
|
|
Deafness and Vestibular Syndrome
|
|
Degenerative Myelopathy
|
|
Dental Hypomineralization
|
|
Dermatomyositis
|
|
Dystrophic Epidermolysis Bullosa
|
|
Early Adult Onset Deafness
|
|
Early Onset Progressive Polyneuropathy
|
|
Ectodermal Dysplasia
|
|
Elliptocytosis
|
|
Encephalopathy
|
|
Epidermolysis Bullosa Simplex
|
|
Epidermolytic Hyperkeratosis
|
|
Epilepsy (variants)
|
|
Episodic Falling Syndrome
|
|
Exercise‐Induced Collapse
|
|
Exercise‐Induced Metabolic Myopathy
|
|
Factor IX Deficiency (Hemophilia B)
|
|
Factor VII Deficiency
|
|
Factor VIII Deficiency (Hemophilia A)
|
|
Factor XI Deficiency
|
|
Factor XII Deficiency
|
|
Familial Congenital Methemoglobinemia
|
|
Familial Juvenile Epilepsy
|
|
Familial Nephropathy
|
|
Fanconi Syndrome
|
|
Fucosidosis
|
|
Gall Bladder Mucocele Formation
|
|
Gangliosidosis (GM1 & GM2)
|
|
Generalized Myoclonic Epilepsy
|
|
Glanzmann's Thrombasthenia
|
|
Glaucoma
|
|
Globoid Cell Leukodystrophy/Krabbe’s Disease
|
|
Glomerulopathy KIRREL2
|
|
Glycogen Storage Disease IA, II, III, IIIA
|
|
Goniodysgenesis and Glaucoma
|
|
Hereditary Ataxia
|
|
Hereditary Cataracts
|
|
Hereditary Deafness (PTPRQ)
|
|
Hereditary Footpad Hyperkeratosis
|
|
Hereditary Nasal Parakeratosis
|
|
Hereditary Nephropathy
|
|
Hereditary Nephropathy (Alport Syndrome)
|
|
Hip Dysplasia (markers)
|
|
Histiocytic Sarcoma (marker)
|
|
Hyperekplexia (Startle Disease)
|
|
Hyperoxaluria
|
|
Hyperuricosuria
|
|
Hypoadrenocorticism
|
|
Hypocatalasia
|
|
Hypokalemic Polymyopathy
|
|
Hypomyelination and Tremors
|
|
Ichthyosis
|
|
Inflammatory Myopathy
|
|
Inherited Myopathy
|
|
Iron‐Deficiency Anemia
|
|
Juvenile Encephalopathy
|
|
Juvenile Epilepsy
|
|
Juvenile Laryngeal Paralysis and Polyneuropathy
|
|
Juvenile Myoclonic Epilepsy
|
|
Juvenile Onset Polyneuropathy
|
|
L2‐ Hydroxyglutaric Aciduria
|
|
Lagotto Storage Disease
|
|
Laryngeal Paralysis
|
|
Lethal Acrodermatitis MKLN1
|
|
Leukoencephalomyelopathy
|
|
Ligneous Membranitis
|
|
Lipoprotein Lipase Deficiency
|
|
Long QT Syndrome
|
|
Lundehund Syndrome
|
|
Lupoid Dermatosis
|
|
Macrothrombocytopenia
|
|
Macular Corneal Dystrophy
|
|
Malignant Hyperthermia
|
|
Mannosidosis
|
|
May–Hegglin Anomaly
|
|
Microphthalmia, Anophthalmia, and Coloboma
|
|
Mucolipidosis II
|
|
Mucopolysaccharidosis (I, IIIa, VI, VII, VIII)
|
|
Mullerian Duct Syndrome
|
