| Achromatopsia | 0 |
| Adrenoleukodystrophy, neonatal | 0 |
| Alzheimer disease, familial | 0 |
| Amelogenesis imperfecta | 0 |
| Amyloid nephropathy, familial | 0 |
| Amyloidosis | 0 |
| Amyotrophic lateral sclerosis | 0 |
| Anophthalmia - Microphthalmia, isolated | 0 |
| Arrhythmogenic right ventricular dysplasia | 0 |
| Atrial fibrillation, familial | 0 |
| Atypical Rett syndrome | 0 |
| Atypical hemolytic uremic syndrome | 0 |
| Autism | 0 |
| Autoimmune lymphoproliferative syndrome | 0 |
| Autosomal dominant Charcot-Marie-Tooth disease, type 2 | 0 |
| Autosomal dominant cerebellar ataxia | 0 |
| Autosomal recessive malignant osteopetrosis | 0 |
| Autosomal recessive spondylocostal dysostosis | 0 |
| Bardet-Biedl syndrome | 0 |
| Bartter syndrome | 0 |
| Bile acid synthesis defect with cholestasis and malabsorption | 0 |
| Blackfan-Diamond disease | 0 |
| Brachydactyly | 0 |
| Breast cancer, familial | 0 |
| CACH syndrome | 0 |
| COFS syndrome | 0 |
| Calcinosis, tumoral | 0 |
| Cardiofaciocutaneous syndrome | 0 |
| Cardiomyopathy, familial dilated | 0 |
| Cardiomyopathy, hypertrophic, primary or idiopathic | 0 |
| Cataract, cerulean | 0 |
| Cataract, pulverulent | 0 |
| Cataract, zonular | 0 |
| Charcot-Marie-Tooth disease, type 1 | 0 |
| Chromosome Y deletion | 0 |
| Classic Ehlers-Danlos syndrome | 0 |
| Cleft lip with or without cleft palate | 0 |
| Coenzyme Q cytochrome c reductase deficiency | 0 |
| Colon cancer, familial nonpolyposis | 0 |
| Cone rod dystrophy | 0 |
| Congenital adrenal hyperplasia | 0 |
| Congenital myasthenic syndromes | 0 |
| Congenital or early infantile CACH syndrome | 0 |
| Conotruncal heart malformations | 0 |
| Corneal dystrophy | 0 |
| Cree leukoencephalopathy | 0 |
| Crigler-Najjar syndrome | 0 |
| Crohn disease | 0 |
| Cutis laxa | 0 |
| Deafness, autosomal dominant, nonsyndromic, sensorineural, type DFNA | 0 |
| Deafness, autosomal recessive, nonsyndromic, sensorineural, type DFNB | 0 |
| Dejerine-Sottas syndrome | 0 |
| Diabetes mellitus, neonatal | 0 |
| Diabetes mellitus, neonatal, permanent | 0 |
| Dyskeratosis congenita | 0 |
| Emery-Dreifuss muscular dystrophy | 0 |
| Encephalopathy due to sulfite oxidase deficiency | 0 |
| Epidermolysis bullosa, epidermolytic | 0 |
| Epidermolysis bullosa, generalized atrophic benign | 0 |
| Epidermolysis bullosa, junctional | 0 |
| Epidermolysis bullosa, junctional, non-Herlitz type | 0 |
| Epiphyseal dysplasia multiple | 0 |
| Erythroderma, congenital ichthyosiform, nonbullous | 0 |
| Fanconi anemia | 0 |
| Fatal infantile cytochrome C oxidase deficiency | 0 |
| Generalized epilepsy with febrile seizures-plus context | 0 |
| Gilbert syndrome | 0 |
| Glioblastoma | 0 |
| Glutaryl-CoA dehydrogenase deficiency | 0 |
| Gonadal dysgenesis, XY female type | 0 |
| Granulomatous disease, chronic | 0 |
| Hemochromatosis | 0 |
| Hereditary chronic pancreatitis | 0 |
| Hereditary pheochromocytoma-paraganglioma syndrome | 0 |
| Hermansky-Pudlak syndrome | 0 |
| Heterotaxia | 0 |
| Hirschsprung disease | 0 |
| Holoprosencephaly | 0 |
| Hyper-IgM syndrome | 0 |
| Hyperbilirubinemia transient familial neonatal | 0 |
| Hypercholesterolemia, familial | 0 |
| Hyperekplexia, hereditary | 0 |
| Hypodontia | 0 |
| Hypothyroidism, congenital | 0 |
| Ichthyosis, lamellar | 0 |
| Idiopathic aplastic anemia | 0 |
| Iminoglycinuria | 0 |
| Immunodeficiency with a complement cascade protein anomaly | 0 |
| Interauricular communication | 0 |
| Joubert syndrome | 0 |
| Juvenile or adult CACH syndrome | 0 |
| Kallmann syndrome | 0 |
| Late infantile CACH syndrome | 0 |
| Late infantile neuronal ceroid lipofuscinosis | 0 |
| Leber amaurosis, congenital | 0 |
| Leigh syndrome | 0 |
| Leucinosis | 0 |
| Leukemia, lymphoblastic, acute | 0 |
| Leukemia, promyelocytic, acute | 0 |
| Long QT syndrome, familial | 0 |
| MALT lymphoma | 0 |
| MODY syndrome | 0 |
| Major hypertriglyceridemia | 0 |
| Meckel syndrome | 0 |
| Medullary cystic kidney disease, autosomal recessive | 0 |
| Medulloblastoma | 0 |
| Microcephaly, isolated congenital | 0 |
| Mild nemaline myopathy | 0 |
| Mitochondrial DNA depletion syndrome | 0 |
| Mucopolysaccharidosis type 3 | 0 |
| Multiple pterygium syndrome, lethal form | 0 |
| NADH-CoQ reductase deficiency | 0 |
| Nemaline myopathy | 0 |
| Neural tube defect | 0 |
| Neuronal ceroid lipofuscinosis | 0 |
| Night blindness, stationary, congenital | 0 |
| Non-syndromic congenital cataract | 0 |
| Nonacquired combined pituitary hormone deficiency | 0 |
| Nonsyndromic genetic deafness | 0 |
| Noonan syndrome | 0 |
| Normosmic congenital hypogonadotropic hypogonadism | 0 |
| Oculocutaneous albinism | 0 |
| Omenn syndrome | 0 |
| Ondine syndrome | 0 |
| Osteogenesis imperfecta | 0 |
| Ovarioleukodystrophy | 0 |
| Pachyonychia congenita | 0 |
| Pancreatic carcinoma, familial | 0 |
| Parkinson disease, genetic type | 0 |
| Persistent hyperinsulinemic hypoglycemia of infancy | 0 |
| Peters anomaly | 0 |
| Polymicrogyria | 0 |
| Pontocerebellar hypoplasia | 0 |
| Porphyria | 0 |
| Postsynaptic congenital myasthenic syndromes | 0 |
| Premature ovarian failure | 0 |
| Primary ciliary dyskinesia | 0 |
| Primary familial polycythemia | 0 |
| Progressive cone dystrophy | 0 |
| Progressive external ophthalmoplegia | 0 |
| Prostate cancer, familial | 0 |
| Pseudohypoaldosteronism, type 1 | 0 |
| Pyruvate dehydrogenase deficiency | 0 |
| Rare intellectual deficit without developmental anomaly | 0 |
| Refsum disease, infantile form | 0 |
| Renal tubular dysgenesis | 0 |
| Retinitis pigmentosa | 0 |
| Senior-Loken syndrome | 0 |
| Sheldon-Hall syndrome | 0 |
| Situs ambiguus | 0 |
| Spherocytosis hereditary | 0 |
| Split hand - split foot | 0 |
| Spondyloepimetaphyseal dysplasia | 0 |
| Spondyloepiphyseal dysplasia | 0 |
| Squamous cell carcinoma of head and neck | 0 |
| Stickler syndrome | 0 |
| Tetralogy of Fallot | 0 |
| Thoracic aortic aneurysm, familial form | 0 |
| Usher syndrome | 0 |
| Vitamin D resistant rickets | 0 |
| Walker-Warburg syndrome | 0 |
| Xanthinuria | 0 |
| Xeroderma pigmentosum | 0 |
| Zellweger syndrome | 0 |
| Glaucoma, congenital | 1 |
| Glaucoma, hereditary | 1 |
| Transposition of the great arteries | 2 |
| Transposition of the great arteries, right | 2 |
