| 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | 2 | Jul 15, 2021 |
| 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome | 1 | Jul 15, 2021 |
| ALG1-CDG | 1 | Jul 15, 2021 |
| ALG2-CDG | 2 | Jul 15, 2021 |
| Achromatopsia 3 | 2 | Jul 15, 2021 |
| Adult hypophosphatasia | 1 | Jul 15, 2021 |
| Age-related macular degeneration 2 | 3 | Jul 15, 2021 |
| Aicardi Goutieres syndrome 2 | 1 | Jul 15, 2021 |
| Aicardi-Goutieres syndrome 6 | 5 | Jul 15, 2021 |
| Alkaptonuria | 1 | Jul 15, 2021 |
| Alport syndrome 1, X-linked recessive | 2 | Jul 15, 2021 |
| Aortic aneurysm, familial thoracic 6 | 1 | Jul 15, 2021 |
| Arrhythmogenic right ventricular cardiomyopathy, type 10 | 1 | Jul 15, 2021 |
| Arrhythmogenic right ventricular dysplasia 8 | 1 | Jul 15, 2021 |
| Arrhythmogenic right ventricular dysplasia 9 | 2 | Jul 15, 2021 |
| Arrhythmogenic right ventricular dysplasia, familial, 2 | 1 | Jul 15, 2021 |
| Arts syndrome | 1 | Jul 15, 2021 |
| Ataxia, spastic, 2, autosomal recessive | 1 | Jul 15, 2021 |
| Autosomal dominant nonsyndromic deafness 17 | 1 | Jul 15, 2021 |
| Autosomal dominant nonsyndromic deafness 2A | 1 | Jul 15, 2021 |
| Autosomal dominant nonsyndromic deafness 6 | 1 | Jul 15, 2021 |
| Autosomal dominant torsion dystonia 4 | 1 | Jul 15, 2021 |
| Autosomal recessive congenital ichthyosis 6 | 1 | Jul 15, 2021 |
| Autosomal recessive limb-girdle muscular dystrophy type 2B | 2 | Jul 15, 2021 |
| Axenfeld-Rieger syndrome type 1 | 1 | Jul 15, 2021 |
| B-cell expansion with NFKB and T-cell anergy | 1 | Jul 15, 2021 |
| Bainbridge-Ropers syndrome | 1 | Jul 15, 2021 |
| Bardet-Biedl syndrome 1 | 3 | Jul 15, 2021 |
| Bardet-Biedl syndrome 14 | 2 | Jul 15, 2021 |
| Bardet-Biedl syndrome 2 | 1 | Jul 15, 2021 |
| Bardet-Biedl syndrome 4 | 1 | Jul 15, 2021 |
| Becker muscular dystrophy | 1 | Jul 15, 2021 |
| Benign familial hematuria | 2 | Jul 15, 2021 |
| Blau syndrome | 1 | Jul 15, 2021 |
| Branchiootic syndrome 3 | 1 | Jul 15, 2021 |
| Capillary malformation-arteriovenous malformation 1 | 1 | Jul 15, 2021 |
| Cardiofaciocutaneous syndrome 3 | 1 | Jul 15, 2021 |
| Cardiomyopathy, dilated, 1NN | 1 | Jul 15, 2021 |
| Cataract 16, multiple types | 2 | Jul 15, 2021 |
| Cataract 20 multiple types | 1 | Jul 15, 2021 |
| Cataract 6, multiple types | 1 | Jul 15, 2021 |
| Cataract, autosomal dominant | 2 | Jul 15, 2021 |
| Cataract, congenital zonular, with sutural opacities | 2 | Jul 15, 2021 |
| Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome | 1 | Jul 15, 2021 |
| Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy type 1 | 1 | Jul 15, 2021 |
| Charcot-Marie-Tooth disease dominant intermediate d | 1 | Jul 15, 2021 |
| Charcot-Marie-Tooth disease, axonal, type 2EE | 1 | Jul 15, 2021 |
| Charcot-Marie-Tooth disease, axonal, type 2O | 2 | Jul 15, 2021 |
| Charcot-Marie-Tooth disease, axonal, type 2T | 3 | Jul 15, 2021 |
| Charcot-Marie-Tooth disease, axonal, type 2z | 1 | Jul 15, 2021 |
| Charcot-Marie-Tooth disease, dominant intermediate B | 1 | Jul 15, 2021 |
| Charcot-Marie-Tooth disease, recessive intermediate d | 1 | Jul 15, 2021 |
| Charcot-Marie-Tooth disease, type 1C | 1 | Jul 15, 2021 |
| Charcot-Marie-Tooth disease, type 2N | 1 | Jul 15, 2021 |
| Charcot-Marie-Tooth disease, type 4B2 | 1 | Jul 15, 2021 |
| Charcot-Marie-Tooth disease, type 4C | 2 | Jul 15, 2021 |
| Charcot-Marie-Tooth disease, type 4H | 2 | Jul 15, 2021 |
| Charcot-Marie-Tooth disease, type IA | 1 | Jul 15, 2021 |
| Charlevoix-Saguenay spastic ataxia | 4 | Jul 15, 2021 |
| Cholesterol monooxygenase (side-chain cleaving) deficiency | 1 | Jul 15, 2021 |
| Choreoacanthocytosis | 1 | Jul 15, 2021 |
| Choroideremia | 2 | Jul 15, 2021 |
| Ciliary dyskinesia, primary, 28 | 1 | Jul 15, 2021 |
| Ciliary dyskinesia, primary, 3 | 6 | Jul 15, 2021 |
| Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency | 1 | Jul 15, 2021 |
| Cockayne syndrome B | 2 | Jul 15, 2021 |
| Cockayne syndrome type A | 2 | Jul 15, 2021 |
| Coenzyme Q10 deficiency, primary 1 | 2 | Jul 15, 2021 |
| Cohen syndrome | 2 | Jul 15, 2021 |
| Combined oxidative phosphorylation deficiency 13 | 1 | Jul 15, 2021 |
| Combined oxidative phosphorylation deficiency 16 | 1 | Jul 15, 2021 |
| Combined saposin deficiency | 2 | Jul 15, 2021 |
| Cone dystrophy with supernormal rod response | 2 | Jul 15, 2021 |
| Cone-rod dystrophy 12 | 2 | Jul 15, 2021 |
| Cone-rod dystrophy 2 | 1 | Jul 15, 2021 |
| Cone-rod dystrophy 6 | 3 | Jul 15, 2021 |
| Cone-rod dystrophy 9 | 1 | Jul 15, 2021 |
| Cone-rod dystrophy and hearing loss 1 | 1 | Jul 15, 2021 |
| Congenital adrenal hypoplasia, X-linked | 1 | Jul 15, 2021 |
| Congenital disorder of glycosylation type 1P | 2 | Jul 15, 2021 |
| Congenital myotonia, autosomal dominant form | 1 | Jul 15, 2021 |
| Congenital stationary night blindness, autosomal dominant 1 | 2 | Jul 15, 2021 |
| Congenital stationary night blindness, type 1A | 1 | Jul 15, 2021 |
| Congenital stationary night blindness, type 1C | 2 | Jul 15, 2021 |
| Congenital stationary night blindness, type 2B | 3 | Jul 15, 2021 |
| Corneal dystrophy-perceptive deafness syndrome | 1 | Jul 15, 2021 |
| Cutis laxa, X-linked | 1 | Jul 15, 2021 |
| Cystinuria | 2 | Jul 15, 2021 |
| Deafness, autosomal dominant 36 | 3 | Jul 15, 2021 |
| Deafness, autosomal dominant 73 | 1 | Jul 15, 2021 |
| Deafness, autosomal recessive 12 | 1 | Jul 15, 2021 |
| Deafness, autosomal recessive 2 | 3 | Jul 15, 2021 |
| Deafness, autosomal recessive 8 | 2 | Jul 15, 2021 |
| Deficiency of guanidinoacetate methyltransferase | 2 | Jul 15, 2021 |
| Developmental and epileptic encephalopathy, 67 | 1 | Jul 15, 2021 |
| Developmental and epileptic encephalopathy, 85, with or without midline brain defects | 1 | Jul 15, 2021 |
| Dilated cardiomyopathy 1G | 4 | Jul 15, 2021 |
| Dilated cardiomyopathy 1HH | 1 | Jul 15, 2021 |
| Dilated cardiomyopathy with woolly hair and keratoderma | 2 | Jul 15, 2021 |
| Distal hereditary motor neuronopathy type 5B | 1 | Jul 15, 2021 |
| Donnai-Barrow syndrome | 2 | Jul 15, 2021 |
| Dyskinesia, familial, with facial myokymia | 1 | Jul 15, 2021 |
| Dystonia 16 | 1 | Jul 15, 2021 |
| Dystonia 28, childhood-onset | 1 | Jul 15, 2021 |
| Early infantile epileptic encephalopathy 11 | 1 | Jul 15, 2021 |
| Early infantile epileptic encephalopathy 2 | 1 | Jul 15, 2021 |
| Early infantile epileptic encephalopathy 4 | 2 | Jul 15, 2021 |
| Early infantile epileptic encephalopathy 5 | 1 | Jul 15, 2021 |
| Early infantile epileptic encephalopathy 8 | 1 | Jul 15, 2021 |
| Early infantile epileptic encephalopathy 9 | 1 | Jul 15, 2021 |
| Ehlers-Danlos syndrome, type 4 | 1 | Jul 15, 2021 |
| Ellis-van Creveld syndrome | 2 | Jul 15, 2021 |
| Emery-Dreifuss muscular dystrophy 1, X-linked | 1 | Jul 15, 2021 |
| Epileptic encephalopathy, early infantile, 31 | 1 | Jul 15, 2021 |
| Epileptic encephalopathy, early infantile, 36 | 1 | Jul 15, 2021 |
| Epileptic encephalopathy, early infantile, 47 | 1 | Jul 15, 2021 |
| Erythrocyte lactate transporter defect | 1 | Jul 15, 2021 |
| Exudative vitreoretinopathy 1 | 1 | Jul 15, 2021 |
| Exudative vitreoretinopathy 4 | 2 | Jul 15, 2021 |
| Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs | 2 | Jul 15, 2021 |
| Facioscapulohumeral muscular dystrophy 2 | 1 | Jul 15, 2021 |
| Familial cancer of breast | 1 | Jul 15, 2021 |
| Familial hypertrophic cardiomyopathy 1 | 5 | Jul 15, 2021 |
| Familial hypertrophic cardiomyopathy 2 | 2 | Jul 15, 2021 |
| Familial hypertrophic cardiomyopathy 4 | 1 | Jul 15, 2021 |
| Familial hypokalemia-hypomagnesemia | 2 | Jul 15, 2021 |
| Familial juvenile hyperuricemic nephropathy type 1 | 6 | Jul 15, 2021 |
| Finnish congenital nephrotic syndrome | 3 | Jul 15, 2021 |
| Focal segmental glomerulosclerosis 5 | 2 | Jul 15, 2021 |
| GLUT1 deficiency syndrome 2 | 2 | Jul 15, 2021 |
| Germ cell tumor of testis | 1 | Jul 15, 2021 |
| Glaucoma 3, primary congenital, A | 1 | Jul 15, 2021 |
| Glioma susceptibility 1 | 1 | Jul 15, 2021 |
| Glioma susceptibility 2 | 1 | Jul 15, 2021 |
| Glycogen storage disease, type V | 2 | Jul 15, 2021 |
| Gonadotropin-independent familial sexual precocity | 1 | Jul 15, 2021 |
| Harel-Yoon syndrome | 1 | Jul 15, 2021 |
| Hereditary motor and sensory neuropathy with optic atrophy | 1 | Jul 15, 2021 |
| Hereditary nonpolyposis colorectal cancer type 4 | 1 | Jul 15, 2021 |
| Hereditary spastic paraplegia 10 | 2 | Jul 15, 2021 |
| Hereditary spastic paraplegia 15 | 1 | Jul 15, 2021 |
| Hereditary spastic paraplegia 2 | 1 | Jul 15, 2021 |
| Hereditary spastic paraplegia 26 | 1 | Jul 15, 2021 |
| Hereditary spastic paraplegia 5A | 3 | Jul 15, 2021 |
| Hereditary spastic paraplegia 7 | 9 | Jul 15, 2021 |
| Hirschsprung disease 1 | 1 | Jul 15, 2021 |
| Hyperinsulinemic hypoglycemia, familial, 1 | 1 | Jul 15, 2021 |
| Hypertriglyceridemia, transient infantile | 3 | Jul 15, 2021 |
| Hypocalcemia, autosomal dominant 2 | 1 | Jul 15, 2021 |
| Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1) | 1 | Jul 15, 2021 |
| Hypogonadotropic hypogonadism 2 with or without anosmia | 4 | Jul 15, 2021 |
| Hypomyelinating leukodystrophy 7 | 3 | Jul 15, 2021 |
| Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism | 2 | Jul 15, 2021 |
| Hypotonia, ataxia, and delayed development syndrome | 1 | Jul 15, 2021 |
| Ichthyosis vulgaris | 3 | Jul 15, 2021 |
| Idiopathic basal ganglia calcification 1 | 1 | Jul 15, 2021 |
| Immunodeficiency 24 | 1 | Jul 15, 2021 |
| Infantile cerebellar-retinal degeneration | 3 | Jul 15, 2021 |
| Infantile hypophosphatasia | 1 | Jul 15, 2021 |
| Infantile onset spinocerebellar ataxia | 1 | Jul 15, 2021 |
| Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature | 1 | Jul 15, 2021 |
| Intellectual disability, X-linked syndromic, Turner type | 1 | Jul 15, 2021 |
| Intellectual disability, autosomal recessive 65 | 1 | Jul 15, 2021 |
| Intellectual disability-cataracts-calcified pinnae-myopathy syndrome | 1 | Jul 15, 2021 |
| Joubert syndrome 3 | 1 | Jul 15, 2021 |
| Joubert syndrome with hepatic defect | 2 | Jul 15, 2021 |
| Juvenile retinoschisis | 1 | Jul 15, 2021 |
| KBG syndrome | 3 | Jul 15, 2021 |
| Kabuki syndrome 1 | 1 | Jul 15, 2021 |
| Kahrizi syndrome | 1 | Jul 15, 2021 |
| Kallmann syndrome 3 | 4 | Jul 15, 2021 |
| Kartagener syndrome | 2 | Jul 15, 2021 |
| Kaufman oculocerebrofacial syndrome | 1 | Jul 15, 2021 |
| Knuckle pads, deafness AND leukonychia syndrome | 1 | Jul 15, 2021 |
| Lamb-shaffer syndrome | 1 | Jul 15, 2021 |
| Late-onset retinal degeneration | 1 | Jul 15, 2021 |
| Leber congenital amaurosis 1 | 4 | Jul 15, 2021 |
| Leber congenital amaurosis 7 | 1 | Jul 15, 2021 |
| Leber congenital amaurosis 9 | 2 | Jul 15, 2021 |
| Leber hereditary optic neuropathy | 9 | Jul 15, 2021 |
| Lesch-Nyhan syndrome | 1 | Jul 15, 2021 |
| Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency | 2 | Jul 15, 2021 |
| Lissencephaly, X-linked | 1 | Jul 15, 2021 |
| Long QT syndrome 2 | 1 | Jul 15, 2021 |
| Long QT syndrome 3 | 2 | Jul 15, 2021 |
| MYH-associated polyposis | 4 | Jul 15, 2021 |
| Macular dystrophy with central cone involvement | 1 | Jul 15, 2021 |
| Macular dystrophy, patterned, 1 | 2 | Jul 15, 2021 |
| Malignant tumor of prostate | 1 | Jul 15, 2021 |
| Marfan syndrome | 1 | Jul 15, 2021 |
| Megalencephaly-capillary malformation-polymicrogyria syndrome | 1 | Jul 15, 2021 |
| Meningioma, familial | 1 | Jul 15, 2021 |
| Mental retardation and distinctive facial features with or without cardiac defects | 1 | Jul 15, 2021 |
| Mental retardation, X-linked 102 | 1 | Jul 15, 2021 |
| Mental retardation, X-linked 61 | 1 | Jul 15, 2021 |
| Mental retardation, X-linked, syndromic, Bain type | 1 | Jul 15, 2021 |
| Mental retardation, autosomal dominant 19 | 1 | Jul 15, 2021 |
| Mental retardation, autosomal dominant 31 | 1 | Jul 15, 2021 |
| Mental retardation, autosomal dominant 35 | 1 | Jul 15, 2021 |
| Mental retardation, autosomal dominant 42 | 1 | Jul 15, 2021 |
| Mental retardation, autosomal dominant 43 | 1 | Jul 15, 2021 |
| Mental retardation, with or without seizures, ARX-related, X-linked | 1 | Jul 15, 2021 |
| Mitochondrial DNA depletion syndrome 1 (MNGIE type) | 1 | Jul 15, 2021 |
| Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) | 2 | Jul 15, 2021 |
| Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type) | 1 | Jul 15, 2021 |
| Mitochondrial complex I deficiency | 1 | Jul 15, 2021 |
| Mowat-Wilson syndrome | 1 | Jul 15, 2021 |
| Mucopolysaccharidosis, MPS-III-A | 4 | Jul 15, 2021 |
| Multiple endocrine neoplasia, type 1 | 1 | Jul 15, 2021 |
| Multiple mitochondrial dysfunctions syndrome 2 | 1 | Jul 15, 2021 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14 | 2 | Jul 15, 2021 |
| Myasthenic syndrome, congenital, 7, presynaptic | 1 | Jul 15, 2021 |
| Myofibrillar myopathy 1 | 1 | Jul 15, 2021 |
| Myopathy with postural muscle atrophy, X-linked | 1 | Jul 15, 2021 |
| Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay | 2 | Jul 15, 2021 |
| Myopathy, myofibrillar, 9, with early respiratory failure | 1 | Jul 15, 2021 |
| Myopathy, tubular aggregate, 1 | 1 | Jul 15, 2021 |
| Nemaline myopathy 2 | 2 | Jul 15, 2021 |
| Neonatal severe hyperparathyroidism | 1 | Jul 15, 2021 |
| Nephrotic syndrome, type 9 | 1 | Jul 15, 2021 |
| Neurodevelopmental disorder with language impairment and behavioral abnormalities | 1 | Jul 15, 2021 |
| Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies | 1 | Jul 15, 2021 |
| Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features | 1 | Jul 15, 2021 |
| Neurofibromatosis, type 1 | 2 | Jul 15, 2021 |
| Neurofibromatosis-Noonan syndrome | 2 | Jul 15, 2021 |
| Neuropathy, hereditary sensory and autonomic, type 1A | 1 | Jul 15, 2021 |
| Niemann-Pick disease type C1 | 4 | Jul 15, 2021 |
| Noonan syndrome 1 | 2 | Jul 15, 2021 |
| Noonan syndrome 5 | 1 | Jul 15, 2021 |
| Noonan syndrome 8 | 1 | Jul 15, 2021 |
| Ocular albinism, type I | 2 | Jul 15, 2021 |
| Oculocutaneous albinism type 4 | 1 | Jul 15, 2021 |
| Oculodentodigital dysplasia | 1 | Jul 15, 2021 |
| Oculofaciocardiodental syndrome | 1 | Jul 15, 2021 |
| Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy | 4 | Jul 15, 2021 |
| Osteogenesis imperfecta, recessive perinatal lethal | 9 | Jul 15, 2021 |
| Palmoplantar keratoderma, nonepidermolytic, focal 2 | 1 | Jul 15, 2021 |
| Paragangliomas 5 | 1 | Jul 15, 2021 |
| Parkinson disease 14 | 4 | Jul 15, 2021 |
| Parkinson disease 7 | 1 | Jul 15, 2021 |
| Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease | 1 | Jul 15, 2021 |
| Peroxisome biogenesis disorder 1A (Zellweger) | 2 | Jul 15, 2021 |
| Pierpont syndrome | 1 | Jul 15, 2021 |
| Polyarteritis nodosa, childhoood-onset | 2 | Jul 15, 2021 |
| Polycystic kidney disease 2 | 1 | Jul 15, 2021 |
| Polycystic kidney disease 4 | 2 | Jul 15, 2021 |
| Polycystic kidney disease, adult type | 2 | Jul 15, 2021 |
| Polyglandular autoimmune syndrome, type 1 | 3 | Jul 15, 2021 |
| Polyglucosan body myopathy 1 with or without immunodeficiency | 2 | Jul 15, 2021 |
| Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract | 1 | Jul 15, 2021 |
| Pontocerebellar hypoplasia type 4 | 1 | Jul 15, 2021 |
| Pontocerebellar hypoplasia, type 1b | 1 | Jul 15, 2021 |
| Primary autosomal recessive microcephaly 5 | 2 | Jul 15, 2021 |
| Primary ciliary dyskinesia 24 | 2 | Jul 15, 2021 |
| Primary hyperoxaluria, type I | 2 | Jul 15, 2021 |
| Progressive sclerosing poliodystrophy | 3 | Jul 15, 2021 |
| Protoporphyria, erythropoietic, 1 | 2 | Jul 15, 2021 |
| Pyruvate carboxylase deficiency | 1 | Jul 15, 2021 |
| Pyruvate dehydrogenase E1-alpha deficiency | 3 | Jul 15, 2021 |
| Retinitis pigmentosa 11 | 2 | Jul 15, 2021 |
| Retinitis pigmentosa 12 | 5 | Jul 15, 2021 |
| Retinitis pigmentosa 13 | 1 | Jul 15, 2021 |
| Retinitis pigmentosa 14 | 3 | Jul 15, 2021 |
| Retinitis pigmentosa 19 | 15 | Jul 15, 2021 |
| Retinitis pigmentosa 2 | 1 | Jul 15, 2021 |
| Retinitis pigmentosa 25 | 1 | Jul 15, 2021 |
| Retinitis pigmentosa 26 | 1 | Jul 15, 2021 |
| Retinitis pigmentosa 28 | 2 | Jul 15, 2021 |
| Retinitis pigmentosa 33 | 1 | Jul 15, 2021 |
| Retinitis pigmentosa 36 | 1 | Jul 15, 2021 |
| Retinitis pigmentosa 39 | 11 | Jul 15, 2021 |
| Retinitis pigmentosa 4 | 1 | Jul 15, 2021 |
| Retinitis pigmentosa 40 | 3 | Jul 15, 2021 |
| Retinitis pigmentosa 54 | 1 | Jul 15, 2021 |
| Retinitis pigmentosa 66 | 1 | Jul 15, 2021 |
| Retinitis pigmentosa 73 | 2 | Jul 15, 2021 |
| Retinitis pigmentosa 75 | 1 | Jul 15, 2021 |
| Retinitis pigmentosa 76 | 2 | Jul 15, 2021 |
| Retinitis pigmentosa 78 | 1 | Jul 15, 2021 |
| Retinitis pigmentosa 80 | 4 | Jul 15, 2021 |
| Retinitis pigmentosa with or without skeletal anomalies | 1 | Jul 15, 2021 |
| Ritscher-Schinzel syndrome 1 | 1 | Jul 15, 2021 |
| Schinzel-Giedion syndrome | 1 | Jul 15, 2021 |
| Schwannomatosis 2 | 1 | Jul 15, 2021 |
| Sialic acid storage disease, severe infantile type | 1 | Jul 15, 2021 |
| Sialuria | 1 | Jul 15, 2021 |
| Skin/hair/eye pigmentation, variation in, 3 | 2 | Jul 15, 2021 |
| Sorbitol dehydrogenase deficiency with peripheral neuropathy | 1 | Jul 15, 2021 |
| Sotos syndrome 1 | 1 | Jul 15, 2021 |
| Spastic paraplegia 11, autosomal recessive | 4 | Jul 15, 2021 |
| Spastic paraplegia 30, autosomal recessive | 2 | Jul 15, 2021 |
| Spastic paraplegia 35 | 4 | Jul 15, 2021 |
| Spastic paraplegia 4, autosomal dominant | 2 | Jul 15, 2021 |
| Spastic paraplegia 49, autosomal recessive | 2 | Jul 15, 2021 |
| Spastic paraplegia 57, autosomal recessive | 1 | Jul 15, 2021 |
| Spastic paraplegia 76, autosomal recessive | 1 | Jul 15, 2021 |
| Spastic paraplegia 80, autosomal dominant | 1 | Jul 15, 2021 |
| Spherocytosis type 2 | 1 | Jul 15, 2021 |
| Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant | 1 | Jul 15, 2021 |
| Spinocerebellar ataxia type 14 | 3 | Jul 15, 2021 |
| Spinocerebellar ataxia type 21 | 1 | Jul 15, 2021 |
| Spinocerebellar ataxia type 29 | 2 | Jul 15, 2021 |
| Spinocerebellar ataxia type 6 | 6 | Jul 15, 2021 |
| Spinocerebellar ataxia, autosomal recessive 16 | 2 | Jul 15, 2021 |
| Spinocerebellar ataxia, autosomal recessive 8 | 4 | Jul 15, 2021 |
| Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 | 2 | Jul 15, 2021 |
| Spondylometaphyseal dysplasia, Kozlowski type | 1 | Jul 15, 2021 |
| Stickler syndrome type 2 | 2 | Jul 15, 2021 |
| Sudden cardiac failure, infantile | 2 | Jul 15, 2021 |
| Syndromic microphthalmia type 5 | 1 | Jul 15, 2021 |
| Transcolabamin II deficiency | 1 | Jul 15, 2021 |
| Tuberous sclerosis 2 | 1 | Jul 15, 2021 |
| Type 2 diabetes mellitus | 2 | Jul 15, 2021 |
| Tyrosinase-positive oculocutaneous albinism | 2 | Jul 15, 2021 |
| Ullrich congenital muscular dystrophy 1 | 2 | Jul 15, 2021 |
| Usher syndrome, type 2A | 10 | Jul 15, 2021 |
| Vitelliform macular dystrophy type 2 | 1 | Jul 15, 2021 |
| Wiedemann-Steiner syndrome | 1 | Jul 15, 2021 |
| X-linked cone-rod dystrophy 3 | 2 | Jul 15, 2021 |
| Zonular pulverulent cataract 3 | 3 | Jul 15, 2021 |
