| 2-aminoadipic 2-oxoadipic aciduria | 1 | Apr 18, 2018 |
| 3 Methylcrotonyl-CoA carboxylase 1 deficiency | 1 | Oct 17, 2018 |
| 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | 1 | Jun 13, 2018 |
| 3-methylcrotonyl CoA carboxylase 2 deficiency | 2 | Oct 17, 2018 |
| 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia | 1 | Oct 17, 2018 |
| 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome | 1 | Apr 18, 2018 |
| ALG8-CDG | 1 | Jun 13, 2018 |
| Achondrogenesis, type IA | 4 | Aug 27, 2019 |
| Acrocephalosyndactyly type I | 1 | Oct 17, 2018 |
| Acromelic frontonasal dysostosis | 1 | Jun 13, 2018 |
| Acyl-CoA dehydrogenase family, member 9, deficiency of | 1 | Jun 13, 2018 |
| Adrenoleukodystrophy | 1 | Jun 13, 2018 |
| Adult hypophosphatasia | 1 | Jun 13, 2018 |
| Aicardi Goutieres syndrome 2 | 1 | Jun 13, 2018 |
| Aicardi Goutieres syndrome 3 | 1 | Jun 13, 2018 |
| Alagille syndrome 1 | 2 | Oct 17, 2018 |
| Allan-Herndon-Dudley syndrome | 1 | Jun 13, 2018 |
| Alport syndrome 3, autosomal dominant | 1 | Jun 13, 2018 |
| Alport syndrome, autosomal recessive | 1 | Oct 17, 2018 |
| Alternating hemiplegia of childhood 2 | 1 | Jun 13, 2018 |
| Alzheimer disease, type 4 | 1 | Jun 13, 2018 |
| Amyotrophic lateral sclerosis type 10 | 1 | Jun 13, 2018 |
| Aortic aneurysm, familial thoracic 7 | 1 | Jun 13, 2018 |
| Argininosuccinate lyase deficiency | 1 | Jun 13, 2018 |
| Arrhythmogenic right ventricular dysplasia 8 | 1 | Jun 13, 2018 |
| Arrhythmogenic right ventricular dysplasia 9 | 1 | Jun 13, 2018 |
| Arthrogryposis, distal, type 2B2 | 2 | Aug 27, 2019 |
| Arthrogryposis, distal, type 2B3 | 5 | Sep 24, 2019 |
| Ataxia-telangiectasia syndrome | 2 | Jun 13, 2018 |
| Autoinflammation with arthritis and dyskeratosis | 1 | Apr 18, 2018 |
| Autosomal dominant nonsyndromic deafness 6 | 1 | Jun 13, 2018 |
| Autosomal dominant optic atrophy classic form | 1 | Jun 13, 2018 |
| Autosomal recessive congenital ichthyosis 2 | 1 | Jun 13, 2018 |
| Autosomal recessive limb-girdle muscular dystrophy type 2B | 1 | Jun 13, 2018 |
| Autosomal recessive limb-girdle muscular dystrophy type 2E | 2 | Jun 13, 2018 |
| Autosomal recessive polycystic kidney disease | 9 | Jun 13, 2018 |
| Bardet-Biedl syndrome 12 | 1 | Jun 13, 2018 |
| Bardet-Biedl syndrome 6 | 2 | Jun 13, 2018 |
| Basal ganglia calcification, idiopathic, 7, autosomal recessive | 24 | Aug 27, 2019 |
| Beck-Fahrner syndrome | 1 | Jul 27, 2020 |
| Bernard Soulier syndrome | 1 | Jun 13, 2018 |
| Bestrophinopathy, autosomal recessive | 1 | Jun 13, 2018 |
| Beta-hydroxyisobutyryl-CoA deacylase deficiency | 1 | Oct 17, 2018 |
| Brugada syndrome 1 | 1 | Jun 13, 2018 |
| CEBALID syndrome | 7 | Sep 15, 2020 |
| CHARGE association | 2 | Jun 13, 2018 |
| Capillary malformation-arteriovenous malformation 1 | 1 | Jun 13, 2018 |
| Capillary malformation-arteriovenous malformation 2 | 28 | Jun 21, 2019 |
| Cataract 30 | 1 | Apr 18, 2018 |
| Cataract 48 | 1 | Sep 24, 2019 |
| Catecholaminergic polymorphic ventricular tachycardia type 1 | 1 | Jun 13, 2018 |
| Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B | 3 | Jun 13, 2018 |
| Charcot-Marie-Tooth disease, axonal, type 2O | 1 | Oct 17, 2018 |
| Charcot-marie-tooth disease, axonal, type 2ee | 1 | Sep 24, 2019 |
| Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder | 1 | Apr 18, 2018 |
| Choroidal dystrophy, central areolar 1 | 1 | Oct 17, 2018 |
| Ciliary dyskinesia, primary, 14 | 1 | Jun 13, 2018 |
| Ciliary dyskinesia, primary, 17 | 1 | Jun 13, 2018 |
| Citrullinemia type I | 1 | Jun 13, 2018 |
| Classic homocystinuria | 3 | Jun 13, 2018 |
| Cleidocranial dysostosis | 1 | Jun 13, 2018 |
| Coffin-Siris syndrome 6 | 2 | Oct 17, 2018 |
| Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia | 5 | Oct 17, 2018 |
| Combined immunodeficiency due to GINS1 deficiency | 2 | Oct 17, 2018 |
| Combined oxidative phosphorylation deficiency 24 | 2 | Oct 17, 2019 |
| Combined oxidative phosphorylation deficiency 32 | 2 | Apr 18, 2018 |
| Combined oxidative phosphorylation deficiency 34 | 1 | Apr 18, 2018 |
| Combined oxidative phosphorylation deficiency 35 | 6 | Oct 17, 2018 |
| Combined oxidative phosphorylation deficiency 36 | 3 | Oct 17, 2018 |
| Cone dystrophy 3 | 16 | Jun 11, 2020 |
| Cone-rod dystrophy and hearing loss 2 | 5 | Feb 19, 2020 |
| Congenital disorder of glycosylation, type Ia | 3 | Jun 13, 2018 |
| Congenital disorder of glycosylation, type iit | 4 | Jan 8, 2021 |
| Congenital dyserythropoietic anemia type type 1B | 6 | Aug 12, 2019 |
| Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2 | 1 | Jun 13, 2018 |
| Congenital myopathy with reduced type 2 muscle fibers | 1 | Sep 24, 2019 |
| Contractures, pterygia, and variable skeletal fusions syndrome 1A | 3 | Sep 24, 2019 |
| Cortical dysplasia, complex, with other brain malformations 2 | 1 | Jun 13, 2018 |
| Crouzon syndrome | 1 | Apr 18, 2018 |
| Cutis laxa, autosomal recessive IIIA | 1 | Jun 13, 2018 |
| Cystic fibrosis | 2 | Jun 13, 2018 |
| Deafness, autosomal dominant 73 | 1 | Apr 18, 2018 |
| Deafness, autosomal recessive 109 | 1 | Oct 17, 2018 |
| Deafness, autosomal recessive 114 | 1 | Aug 12, 2019 |
| Deafness, autosomal recessive 26 | 1 | Oct 17, 2018 |
| Deafness, autosomal recessive 32 | 7 | Mar 27, 2019 |
| Deafness, autosomal recessive 4, with enlarged vestibular aqueduct | 1 | Jun 13, 2018 |
| Deafness, autosomal recessive 48 | 1 | Oct 17, 2018 |
| Deafness, autosomal recessive 57 | 5 | Oct 17, 2018 |
| Deafness, autosomal recessive 94 | 1 | Oct 17, 2019 |
| Deafness, congenital heart defects, and posterior embryotoxon | 1 | Oct 17, 2018 |
| Decreased antibody level in blood | 1 | Apr 18, 2018 |
| Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | 1 | Jun 13, 2018 |
| Deficiency of acetyl-CoA acetyltransferase | 1 | Oct 17, 2018 |
| Developmental and epileptic encephalopathy, 56 | 5 | Apr 18, 2018 |
| Developmental and epileptic encephalopathy, 63 | 3 | Oct 17, 2018 |
| Developmental and epileptic encephalopathy, 64 | 6 | Oct 17, 2018 |
| Developmental and epileptic encephalopathy, 65 | 3 | Oct 17, 2018 |
| Developmental and epileptic encephalopathy, 67 | 1 | Mar 27, 2019 |
| Developmental and epileptic encephalopathy, 68 | 1 | Mar 27, 2019 |
| Developmental and epileptic encephalopathy, 75 | 6 | Oct 17, 2019 |
| Developmental and epileptic encephalopathy, 76 | 11 | Aug 12, 2019 |
| Dilated cardiomyopathy 1A | 1 | Jun 13, 2018 |
| Dilated cardiomyopathy 1S | 1 | Jun 13, 2018 |
| Dilated cardiomyopathy 3B | 1 | Jun 13, 2018 |
| Dyschromatosis universalis hereditaria 1 | 8 | Dec 18, 2019 |
| Dystonia 28, childhood-onset | 11 | Jul 27, 2018 |
| Early infantile epileptic encephalopathy 13 | 1 | Jun 13, 2018 |
| Early infantile epileptic encephalopathy 7 | 1 | Jun 13, 2018 |
| Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant | 1 | Oct 17, 2018 |
| Ehlers-Danlos syndrome, classic type | 1 | Jun 13, 2018 |
| Ehlers-danlos syndrome, classic-like, 2 | 1 | Oct 17, 2018 |
| Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities | 3 | Apr 18, 2018 |
| Epileptic encephalopathy, early infantile, 41 | 1 | Apr 18, 2018 |
| Epileptic encephalopathy, early infantile, 49 | 1 | Apr 18, 2018 |
| Episodic ataxia type 2 | 1 | Oct 17, 2018 |
| Estrogen resistance | 1 | Jul 6, 2017 |
| Extra oral halitosis | 3 | Apr 18, 2018 |
| Exudative vitreoretinopathy 4 | 1 | Jun 13, 2018 |
| Fabry disease | 1 | Jun 13, 2018 |
| Familial Mediterranean fever | 1 | Jun 13, 2018 |
| Familial X-linked hypophosphatemic vitamin D refractory rickets | 1 | Jun 13, 2018 |
| Familial adenomatous polyposis 1 | 2 | Oct 17, 2018 |
| Familial hypercholesterolemia 1 | 1 | Jun 13, 2018 |
| Familial hypertrophic cardiomyopathy 4 | 2 | Jun 13, 2018 |
| Familial hypertrophic cardiomyopathy 6 | 1 | Jun 13, 2018 |
| Farber disease | 1 | Apr 18, 2018 |
| Finnish congenital nephrotic syndrome | 1 | Jun 13, 2018 |
| Freeman-Sheldon syndrome | 2 | Sep 24, 2019 |
| Galactosylceramide beta-galactosidase deficiency | 1 | Jun 13, 2018 |
| Galloway-Mowat syndrome 7 | 1 | Jul 9, 2019 |
| Geleophysic dysplasia 3 | 1 | Oct 17, 2018 |
| Glucocorticoid deficiency 5 | 1 | Oct 17, 2018 |
| Glucocorticoid deficiency with achalasia | 1 | Jun 13, 2018 |
| Glycogen storage disease, type II | 1 | Jun 13, 2018 |
| Glycogen storage disease, type V | 1 | Jun 13, 2018 |
| Glycogen storage disease, type VII | 1 | Jun 13, 2018 |
| Glycosylphosphatidylinositol biosynthesis defect 15 | 6 | Oct 17, 2018 |
| Glycosylphosphatidylinositol biosynthesis defect 16 | 3 | Oct 17, 2018 |
| Glycosylphosphatidylinositol biosynthesis defect 18 | 3 | Aug 27, 2019 |
| Goldblatt hypertension | 5 | Aug 27, 2019 |
| Greig cephalopolysyndactyly syndrome | 1 | Jun 13, 2018 |
| Hajdu-Cheney syndrome | 1 | Apr 18, 2018 |
| Hemochromatosis type 1 | 1 | Jun 13, 2018 |
| Hereditary acrodermatitis enteropathica | 1 | Jun 13, 2018 |
| Hereditary fructosuria | 1 | Jun 13, 2018 |
| Hereditary hemorrhagic telangiectasia type 1 | 1 | Jun 13, 2018 |
| Hereditary insensitivity to pain with anhidrosis | 1 | Jun 13, 2018 |
| Hereditary spastic paraplegia 3A | 1 | Jun 13, 2018 |
| Hereditary spastic paraplegia 7 | 1 | Jun 13, 2018 |
| Hydatidiform mole, recurrent, 3 | 1 | Oct 17, 2019 |
| Hydatidiform mole, recurrent, 4 | 1 | Oct 17, 2019 |
| Hydrolethalus syndrome 2 | 1 | Jun 13, 2018 |
| Hyper-IgE recurrent infection syndrome 3, autosomal recessive | 4 | Aug 12, 2019 |
| Hyperekplexia 4 | 2 | Oct 17, 2018 |
| Hyperparathyroidism, transient neonatal | 6 | Aug 12, 2019 |
| Hyperphosphatemic familial tumoral calcinosis 1 | 1 | Oct 17, 2018 |
| Hyperphosphatemic familial tumoral calcinosis 3 | 1 | Oct 17, 2018 |
| Hypogonadotropic hypogonadism 2 with or without anosmia | 1 | Jun 13, 2018 |
| Hypogonadotropic hypogonadism 5 with or without anosmia | 1 | Jun 13, 2018 |
| Hypokalemic periodic paralysis 1 | 1 | Jun 13, 2018 |
| Hypomagnesemia, seizures, and mental retardation 1 | 1 | Apr 18, 2018 |
| Hypothyroidism, congenital, nongoitrous, 7 | 3 | Feb 19, 2020 |
| Hypothyroidism, congenital, nongoitrous, 8 | 6 | Feb 19, 2020 |
| Hypotrichosis 5 | 1 | Sep 15, 2020 |
| Immunodeficiency 14 | 1 | Jun 13, 2018 |
| Immunodeficiency 15a | 1 | Jan 21, 2019 |
| Immunodeficiency 72 with autoinflammation | 4 | Apr 13, 2021 |
| Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome | 5 | Jun 21, 2019 |
| Infantile myofibromatosis 1 | 1 | Jun 13, 2018 |
| Inflammatory bowel disease, immunodeficiency, and encephalopathy | 3 | Mar 27, 2019 |
| Intellectual developmental disorder 60 with seizures | 1 | Dec 18, 2019 |
| Intellectual developmental disorder with macrocephaly, seizures, and speech delay | 2 | Aug 27, 2019 |
| Intellectual developmental disorder with seizures and language delay | 6 | Apr 13, 2021 |
| Intellectual developmental disorder with severe speech and ambulation defects | 2 | Aug 12, 2019 |
| Intellectual developmental disorder, X-linked 108 | 1 | Aug 12, 2019 |
| Intellectual developmental disorder, autosomal dominant 63, with macrocephaly | 6 | Sep 15, 2020 |
| Intellectual developmental disorder, autosomal recessive 67 | 1 | Dec 18, 2019 |
| Intellectual disability, autosomal dominant 51 | 4 | Jan 21, 2019 |
| Intellectual disability, autosomal dominant 9 | 16 | Jun 17, 2020 |
| Intellectual disability, autosomal recessive 65 | 2 | May 17, 2019 |
| Islet cell adenomatosis | 1 | Oct 17, 2018 |
| Joubert syndrome 3 | 2 | Jun 13, 2018 |
| Joubert syndrome 5 | 1 | Jun 13, 2018 |
| Joubert syndrome 6 | 1 | Jun 13, 2018 |
| Juvenile retinoschisis | 2 | Jun 13, 2018 |
| Keipert syndrome | 2 | Oct 17, 2019 |
| Keratitis fugax hereditaria | 1 | Oct 17, 2018 |
| Kleefstra syndrome 2 | 3 | Apr 18, 2018 |
| Koolen-de Vries syndrome | 3 | Jun 21, 2019 |
| Lactic aciduria due to d-lactic acid | 2 | Aug 27, 2019 |
| Laron-type isolated somatotropin defect | 1 | Jun 13, 2018 |
| Leber congenital amaurosis 2 | 9 | Feb 19, 2020 |
| Leber congenital amaurosis with early-onset deafness | 2 | Oct 17, 2018 |
| Leukodystrophy, hypomyelinating, 16 | 1 | Oct 17, 2018 |
| Leukodystrophy, hypomyelinating, 18 | 10 | Oct 17, 2019 |
| Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome | 8 | Jan 8, 2021 |
| Limb-girdle muscular dystrophy, type 2A | 2 | Jun 13, 2018 |
| Limb-girdle muscular dystrophy, type 2L | 3 | Jun 13, 2018 |
| Long QT syndrome 1 | 2 | Oct 17, 2018 |
| Long QT syndrome 14 | 5 | Jul 27, 2020 |
| Long QT syndrome 2 | 2 | Jun 13, 2018 |
| Long QT syndrome 3 | 1 | Oct 17, 2018 |
| Long QT syndrome 5 | 1 | Jun 13, 2018 |
| Macrocephaly, acquired, with impaired intellectual development | 4 | Oct 17, 2019 |
| Malignant hyperthermia, susceptibility to, 1 | 1 | Jun 13, 2018 |
| Maple syrup urine disease | 2 | Jun 13, 2018 |
| Marfan syndrome | 3 | Jun 13, 2018 |
| Meier-Gorlin syndrome 2 | 1 | Jun 13, 2018 |
| Meier-gorlin syndrome 7 | 9 | Oct 17, 2018 |
| Mental retardation, autosomal dominant 1 | 3 | Oct 17, 2018 |
| Mental retardation, autosomal dominant 15 | 1 | Oct 17, 2018 |
| Mental retardation, autosomal dominant 44 | 5 | Sep 15, 2020 |
| Mental retardation, autosomal dominant 5 | 1 | Jun 13, 2018 |
| Mental retardation, autosomal dominant 57 | 19 | Oct 17, 2018 |
| Mental retardation, autosomal recessive 66 | 2 | Feb 19, 2020 |
| Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression | 1 | Sep 24, 2019 |
| Metachromatic leukodystrophy | 1 | Oct 17, 2018 |
| Methemoglobinemia type 4 | 2 | Oct 17, 2018 |
| Microcephalic osteodysplastic dysplasia, Saul-Wilson type | 1 | Aug 12, 2019 |
| Microcephaly 24, primary, autosomal recessive | 1 | Jan 21, 2019 |
| Microcephaly-capillary malformation syndrome | 1 | Jun 13, 2018 |
| Mitochondrial DNA depletion syndrome 19 | 1 | Apr 8, 2021 |
| Mitochondrial complex 1 deficiency, nuclear type 10 | 1 | Mar 27, 2019 |
| Mitochondrial complex 1 deficiency, nuclear type 15 | 1 | Mar 27, 2019 |
| Mitochondrial complex 1 deficiency, nuclear type 18 | 1 | Mar 27, 2019 |
| Mitochondrial complex 1 deficiency, nuclear type 8 | 3 | Mar 27, 2019 |
| Mitochondrial complex 4 deficiency, nuclear type 12 | 1 | Jan 8, 2021 |
| Mitochondrial complex 4 deficiency, nuclear type 18 | 2 | Jan 8, 2021 |
| Mitochondrial complex 4 deficiency, nuclear type 19 | 1 | Jan 8, 2021 |
| Mitochondrial myopathy | 2 | Aug 12, 2019 |
| Mucopolysaccharidosis type 6 | 4 | Jun 13, 2018 |
| Mucopolysaccharidosis, MPS-III-A | 1 | Jun 13, 2018 |
| Multiple synostoses syndrome 4 | 2 | Oct 17, 2018 |
| Mungan syndrome | 1 | Jan 21, 2019 |
| Muscular dystrophy | 1 | Apr 18, 2018 |
| Myasthenic syndrome, congenital, 8 | 1 | Oct 17, 2018 |
| Myofibrillar myopathy 1 | 1 | Apr 18, 2018 |
| Myopathy, centronuclear, 2 | 4 | Mar 27, 2019 |
| Myopathy, congenital, with structured cores and z-line abnormalities | 1 | Jul 27, 2020 |
| Myopathy, distal, 6, adult-onset, autosomal dominant | 2 | Jul 27, 2020 |
| Myopathy, epilepsy, and progressive cerebral atrophy | 3 | Apr 13, 2021 |
| NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, AND GAIT ABNORMALITIES | 9 | May 12, 2021 |
| NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES | 3 | May 12, 2021 |
| Navajo neurohepatopathy | 19 | Sep 24, 2019 |
| Nemaline myopathy 3 | 2 | Jun 11, 2020 |
| Nemaline myopathy 7 | 1 | Apr 18, 2018 |
| Nephronophthisis 12 | 1 | Oct 17, 2018 |
| Nephrotic syndrome, type 11 | 1 | Jan 21, 2019 |
| Nephrotic syndrome, type 17 | 3 | Jan 21, 2019 |
| Nephrotic syndrome, type 18 | 3 | Jan 21, 2019 |
| Nephrotic syndrome, type 19 | 2 | Jan 21, 2019 |
| Nephrotic syndrome, type 20 | 2 | Sep 24, 2019 |
| Neurodegeneration with brain iron accumulation 4 | 1 | Jun 13, 2018 |
| Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures | 1 | Jan 21, 2019 |
| Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia | 2 | Aug 27, 2019 |
| Neurodevelopmental disorder and language delay with or without structural brain abnormalities | 12 | Aug 12, 2019 |
| Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter | 2 | Oct 17, 2018 |
| Neurodevelopmental disorder with language impairment and behavioral abnormalities | 15 | Apr 8, 2021 |
| Neurodevelopmental disorder with microcephaly and dysmorphic facies | 2 | Sep 15, 2020 |
| Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies | 6 | Feb 19, 2020 |
| Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA | 8 | Oct 17, 2019 |
| Neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies | 4 | Sep 15, 2020 |
| Neurodevelopmental disorder with seizures and speech and walking impairment | 2 | Dec 18, 2019 |
| Neurodevelopmental, jaw, eye, and digital syndrome | 7 | Apr 13, 2021 |
| Neurofibromatosis, type 1 | 2 | Jun 13, 2018 |
| Neuronal ceroid lipofuscinosis 5 | 2 | Oct 17, 2018 |
| Neuronal ceroid lipofuscinosis 6 | 1 | Jun 13, 2018 |
| Neuronal ceroid lipofuscinosis 8 | 1 | Jun 13, 2018 |
| Niemann-Pick disease type C1 | 1 | Jun 13, 2018 |
| Noonan syndrome 7 | 1 | Jun 13, 2018 |
| OCULOSKELETODENTAL SYNDROME | 1 | Oct 17, 2019 |
| Oocyte maturation defect 4 | 8 | Apr 18, 2018 |
| Oocyte maturation defect 8 | 2 | May 12, 2021 |
| Orofaciodigital syndrome I | 1 | Apr 18, 2018 |
| Orofaciodigital syndrome type 6 | 1 | Jun 13, 2018 |
| Ovarian dysgenesis 5 | 1 | Apr 18, 2018 |
| Periventricular nodular heterotopia 1 | 1 | Jun 13, 2018 |
| Peroxisome biogenesis disorder 10b | 1 | Apr 18, 2018 |
| Peroxisome biogenesis disorder 1A (Zellweger) | 2 | Jun 13, 2018 |
| Phytanic acid storage disease | 1 | Jun 13, 2018 |
| Pigmentary pallidal degeneration | 1 | Jun 13, 2018 |
| Polycystic kidney disease 6 with or without polycystic liver disease | 3 | Oct 17, 2018 |
| Polycystic kidney disease, adult type | 1 | Jun 13, 2018 |
| Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2 | 7 | Oct 17, 2019 |
| Polymicrogyria with or without vascular-type ehlers-danlos syndrome | 4 | Aug 12, 2019 |
| Preaxial hand polydactyly | 1 | Oct 17, 2019 |
| Primary autosomal recessive microcephaly 5 | 1 | Oct 17, 2018 |
| Primary hyperoxaluria, type I | 1 | Jun 13, 2018 |
| Progressive familial intrahepatic cholestasis 3 | 1 | Jun 13, 2018 |
| Progressive pseudorheumatoid dysplasia | 3 | Mar 27, 2019 |
| Progressive sclerosing poliodystrophy | 1 | Jun 13, 2018 |
| Protoporphyria, erythropoietic, 2 | 1 | Oct 17, 2018 |
| Recessive dystrophic epidermolysis bullosa | 2 | Jun 13, 2018 |
| Renal cysts and diabetes syndrome | 1 | Jun 13, 2018 |
| Retinal degeneration | 2 | Feb 19, 2020 |
| Retinal dystrophy | 1 | Feb 19, 2020 |
| Retinitis pigmentosa 39 | 1 | Jun 13, 2018 |
| Retinitis pigmentosa 81 | 1 | Oct 17, 2018 |
| Retinitis pigmentosa 83 | 1 | Jan 21, 2019 |
| Retinitis pigmentosa 84 | 2 | Jan 21, 2019 |
| Rett syndrome | 2 | Jun 13, 2018 |
| Rippling muscle disease 2 | 1 | Jun 13, 2018 |
| Rolandic epilepsy with mental retardation and speech dyspraxia, X-linked | 1 | Jun 13, 2018 |
| SPERMATOGENIC FAILURE 39 | 3 | Feb 19, 2020 |
| Salla disease | 1 | Jun 13, 2018 |
| Schinzel-Giedion syndrome | 1 | Jun 13, 2018 |
| Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome | 1 | Jun 13, 2018 |
| Severe autosomal recessive muscular dystrophy of childhood - North African type | 1 | Jun 13, 2018 |
| Severe combined immunodeficiency due to CARMIL2 deficiency | 4 | Mar 27, 2019 |
| Severe myoclonic epilepsy in infancy | 1 | Jun 13, 2018 |
| Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies | 3 | Oct 17, 2018 |
| Short-rib thoracic dysplasia 18 with polydactyly | 1 | Oct 17, 2018 |
| Short-rib thoracic dysplasia 19 with or without polydactyly | 4 | Oct 17, 2018 |
| Short-rib thoracic dysplasia 20 with polydactyly | 3 | Oct 17, 2018 |
| Short-rib thoracic dysplasia 7 with or without polydactyly | 3 | Oct 17, 2018 |
| Shprintzen-Goldberg syndrome | 1 | Jun 13, 2018 |
| Shwachman-Diamond syndrome 1 | 6 | Jun 13, 2018 |
| Shwachman-Diamond syndrome 2 | 1 | Oct 17, 2018 |
| Sitosterolemia | 2 | Jun 13, 2018 |
| Skeletal dysplasia, mild, with joint laxity and advanced bone age | 3 | Jan 8, 2021 |
| Snijders blok-campeau syndrome | 20 | Mar 27, 2019 |
| Spastic paraplegia 17 | 1 | Jun 13, 2018 |
| Spastic paraplegia 30, autosomal recessive | 21 | Jun 17, 2020 |
| Spastic paraplegia 4, autosomal dominant | 2 | Sep 4, 2020 |
| Spastic paraplegia 46, autosomal recessive | 7 | Mar 27, 2019 |
| Spermatogenic failure 27 | 1 | Oct 17, 2018 |
| Spinocerebellar ataxia 45 | 2 | Oct 17, 2018 |
| Spinocerebellar ataxia 46 | 1 | Oct 17, 2018 |
| Spinocerebellar ataxia 47 | 3 | Oct 17, 2018 |
| Spinocerebellar ataxia type 6 | 1 | Oct 17, 2018 |
| Spondyloepimetaphyseal dysplasia, di rocco type | 1 | Oct 17, 2018 |
| Spondylometaphyseal dysplasia - Sutcliffe type | 6 | Oct 17, 2018 |
| Spongy degeneration of central nervous system | 1 | Jun 13, 2018 |
| Tetralogy of Fallot | 1 | Oct 17, 2018 |
| Three M syndrome 1 | 1 | Oct 17, 2018 |
| Treacher Collins syndrome 3 | 1 | Jun 13, 2018 |
| Tuberous sclerosis 2 | 1 | Jun 13, 2018 |
| Turnpenny-fry syndrome | 2 | Aug 27, 2019 |
| Usher syndrome type 1 | 3 | Jun 13, 2018 |
| Usher syndrome, type 2A | 2 | Jun 13, 2018 |
| Ventricular tachycardia, catecholaminergic polymorphic, 4 | 1 | Jul 27, 2020 |
| Vertebral, cardiac, renal, and limb defects syndrome 1 | 2 | Apr 18, 2018 |
| Very long chain acyl-CoA dehydrogenase deficiency | 1 | Jun 13, 2018 |
| Vici syndrome | 22 | Jan 21, 2019 |
| Wilson disease | 8 | Apr 27, 2020 |
| X-linked congenital hemolytic anemia | 1 | Oct 17, 2018 |
| Xeroderma pigmentosum variant type | 1 | Jun 13, 2018 |
| mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency | 2 | Oct 17, 2018 |
| not specified | 27 | Jun 13, 2018 |
