| 22q13.3 deletion syndrome | 1 | Jan 21, 2020 |
| 3-Methylglutaconic aciduria type 2 | 2 | Jan 21, 2020 |
| 3-Methylglutaconic aciduria type 3 | 1 | Jan 21, 2020 |
| 3-methylglutaconic aciduria type 9 | 2 | Dec 18, 2017 |
| 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome | 1 | Dec 18, 2017 |
| 3MC syndrome 1 | 1 | Jan 21, 2020 |
| ACTH resistance | 7 | Oct 20, 2017 |
| AFF3-associated disorder | 1 | Aug 10, 2020 |
| AGO1-associated disorder | 1 | Aug 10, 2020 |
| ATP5G3-associated disorder | 1 | Aug 10, 2020 |
| Achondrogenesis type II | 1 | Dec 18, 2017 |
| Acromesomelic dysplasia, Maroteaux type | 1 | Aug 10, 2020 |
| Acromicric dysplasia | 1 | Dec 18, 2017 |
| Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins | 3 | Jan 21, 2020 |
| Acute intermittent porphyria | 1 | Aug 10, 2020 |
| Adenylosuccinate lyase deficiency | 1 | Jan 21, 2020 |
| Adrenocorticotropic hormone deficiency | 2 | Jan 21, 2020 |
| Aicardi Goutieres syndrome 2 | 1 | Aug 10, 2020 |
| Aicardi-Goutieres syndrome 6 | 2 | Dec 18, 2017 |
| Aicardi-Goutieres syndrome 7 | 1 | Jan 21, 2020 |
| Aldosterone-producing adrenal cortex adenoma | 6 | Dec 10, 2014 |
| Alexander Disease | 1 | Dec 18, 2017 |
| Alport syndrome 1, X-linked recessive | 36 | Aug 10, 2020 |
| Alport syndrome, autosomal recessive | 19 | Aug 10, 2020 |
| Alternating hemiplegia of childhood 2 | 2 | Jan 21, 2020 |
| Alzheimer disease, type 3 | 3 | Aug 10, 2020 |
| Amelogenesis imperfecta, hypocalcification type | 1 | Dec 18, 2017 |
| Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia | 1 | Jan 21, 2020 |
| Amyotrophic lateral sclerosis type 1 | 1 | Jan 21, 2020 |
| Amyotrophic lateral sclerosis type 10 | 1 | Jan 21, 2020 |
| Anemia, nonspherocytic hemolytic, due to G6PD deficiency | 1 | Jan 21, 2020 |
| Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps | 1 | Jan 21, 2020 |
| Aniridia 1 | 1 | Aug 10, 2020 |
| Aortic aneurysm, familial thoracic 7 | 1 | Dec 18, 2017 |
| Apparent mineralocorticoid excess | 1 | Jan 21, 2020 |
| Arterial calcification, generalized, of infancy, 1 | 2 | Jan 21, 2020 |
| Ataxia-telangiectasia syndrome | 10 | Jan 21, 2020 |
| Ataxia-telangiectasia-like disorder 1 | 4 | Aug 10, 2020 |
| Autism 5 | 2 | Jan 21, 2020 |
| Autism, susceptibility to, 18 | 2 | Jan 21, 2020 |
| Autosomal dominant hypophosphatemic rickets | 2 | Oct 20, 2017 |
| Autosomal dominant medullary cystic kidney disease with hyperuricemia | 1 | Jan 21, 2020 |
| Autosomal recessive DOPA responsive dystonia | 2 | Jan 21, 2020 |
| Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome | 2 | Jan 21, 2020 |
| Autosomal recessive cutis laxa type 2B | 1 | Aug 10, 2020 |
| Autosomal recessive cutis laxa type 2c | 1 | Dec 18, 2017 |
| Autosomal recessive hypophosphatemic bone disease | 12 | Oct 20, 2017 |
| Autosomal recessive hypophosphatemic vitamin D refractory rickets | 2 | Oct 20, 2017 |
| Autosomal recessive limb-girdle muscular dystrophy type 2B | 1 | Jan 21, 2020 |
| Autosomal recessive limb-girdle muscular dystrophy type 2D | 2 | Jan 21, 2020 |
| Autosomal recessive osteopetrosis 4 | 1 | Jan 21, 2020 |
| Autosomal recessive polycystic kidney disease | 7 | Jan 21, 2020 |
| Avellino corneal dystrophy | 1 | Jan 21, 2020 |
| Axial spondylometaphyseal dysplasia | 1 | Aug 10, 2020 |
| Bainbridge-Ropers syndrome | 3 | Jan 21, 2020 |
| Baraitser-Winter Syndrome 2 | 1 | Jan 21, 2020 |
| Baraitser-Winter syndrome 1 | 4 | Aug 10, 2020 |
| Bardet-Biedl syndrome 1 | 2 | Jan 21, 2020 |
| Bardet-Biedl syndrome 10 | 2 | Aug 10, 2020 |
| Bardet-Biedl syndrome 12 | 2 | Dec 18, 2017 |
| Basilicata-Akhtar syndrome | 2 | Aug 10, 2020 |
| Beaulieu-Boycott-Innes syndrome | 1 | Aug 10, 2020 |
| Becker muscular dystrophy | 2 | Aug 10, 2020 |
| Benign familial hematuria | 1 | Aug 10, 2020 |
| Benign familial neonatal seizures 1 | 1 | Dec 18, 2017 |
| Benign hereditary chorea | 1 | Jan 21, 2020 |
| Beta-hydroxyisobutyryl-CoA deacylase deficiency | 2 | Dec 18, 2017 |
| Bethlem myopathy 1 | 1 | Jan 21, 2020 |
| Bifunctional peroxisomal enzyme deficiency | 1 | Jan 28, 2020 |
| Biotin-responsive basal ganglia disease | 1 | Dec 18, 2017 |
| Biotinidase deficiency | 2 | Jan 21, 2020 |
| Blepharophimosis - intellectual disability syndrome, SBBYS type | 3 | Jan 21, 2020 |
| Blepharophimosis, ptosis, and epicanthus inversus | 1 | Jan 21, 2020 |
| Bohring-Opitz syndrome | 2 | Jan 21, 2020 |
| Bone marrow failure syndrome 3 | 1 | Jan 21, 2020 |
| Bone marrow failure syndrome 4 | 1 | Jan 21, 2020 |
| Bone mineral density quantitative trait locus 18 | 1 | Aug 10, 2020 |
| Borjeson-Forssman-Lehmann syndrome | 1 | Dec 18, 2017 |
| Bosch-Boonstra-Schaaf optic atrophy syndrome | 1 | Aug 10, 2020 |
| Brain malformations and urinary tract defects | 2 | Aug 10, 2020 |
| Brain small vessel disease 1 with or without ocular anomalies | 2 | Aug 10, 2020 |
| Branchiooculofacial syndrome | 1 | Jan 21, 2020 |
| Branchiootic syndrome 1 | 1 | Jan 21, 2020 |
| Branchiootorenal Syndrome 1 | 1 | Jan 21, 2020 |
| Bruck syndrome 2 | 1 | Jan 21, 2020 |
| Burn-McKeown syndrome | 9 | Dec 2, 2014 |
| CHARGE association | 4 | Dec 18, 2017 |
| CSDE1-associated disorder | 1 | Aug 10, 2020 |
| Camptomelic dysplasia | 2 | Dec 18, 2017 |
| Carbonic anhydrase VA deficiency, hyperammonemia due to | 1 | Jan 28, 2020 |
| Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency | 1 | Jan 21, 2020 |
| Cardiofaciocutaneous syndrome 1 | 2 | Dec 18, 2017 |
| Cardiofaciocutaneous syndrome 3 | 1 | Jan 21, 2020 |
| Cardiofaciocutaneous syndrome 4 | 1 | Jan 21, 2020 |
| Cardiomyopathy | 3 | Mar 5, 2019 |
| Carnitine palmitoyltransferase II deficiency, infantile | 1 | Aug 10, 2020 |
| Cataract, autosomal dominant | 1 | Jan 21, 2020 |
| Central core myopathy | 1 | Jan 21, 2020 |
| Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant | 2 | Aug 10, 2020 |
| Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 | 1 | Aug 10, 2020 |
| Cerebellar ataxia, nonprogressive, with mental retardation | 1 | Aug 10, 2020 |
| Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome | 2 | Aug 10, 2020 |
| Cerebral calcification | 5 | Jun 26, 2018 |
| Ceroid lipofuscinosis neuronal 2 | 2 | Dec 18, 2017 |
| Ceroid lipofuscinosis, neuronal, 13 | 1 | Jan 21, 2020 |
| Charcot-Marie-Tooth Neuropathy X Type 1 | 1 | Jan 21, 2020 |
| Charcot-Marie-Tooth disease axonal type 2C | 1 | Jan 21, 2020 |
| Charcot-Marie-Tooth disease type 2I | 1 | Jan 21, 2020 |
| Charcot-Marie-Tooth disease, axonal, type 2z | 1 | Jan 21, 2020 |
| Charcot-Marie-Tooth disease, demyelinating, type 1f | 1 | Aug 10, 2020 |
| Charcot-Marie-Tooth disease, dominant intermediate E | 1 | Aug 10, 2020 |
| Charcot-Marie-Tooth disease, dominant intermediate F | 1 | Dec 18, 2017 |
| Charcot-Marie-Tooth disease, recessive intermediate A | 1 | Jan 21, 2020 |
| Charcot-Marie-Tooth disease, type 2A2A | 1 | Jan 21, 2020 |
| Charcot-Marie-Tooth disease, type 4B3 | 1 | Jan 21, 2020 |
| Charcot-Marie-Tooth disease, type 4C | 2 | Jan 28, 2020 |
| Charcot-marie-tooth disease, axonal, type 2ee | 1 | Jan 21, 2020 |
| Charlevoix-Saguenay spastic ataxia | 2 | Jan 21, 2020 |
| Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder | 1 | Aug 10, 2020 |
| Chondrodysplasia punctata 2 X-linked dominant | 1 | Jan 21, 2020 |
| Christianson syndrome | 1 | Jan 21, 2020 |
| Chromosome 2q32-q33 deletion syndrome | 3 | Jan 21, 2020 |
| Chromosome Xq28 deletion syndrome | 1 | Jan 21, 2020 |
| Ciliary dyskinesia, primary, 38 | 1 | Jan 21, 2020 |
| Ciliary dyskinesia, primary, 7 | 2 | Jan 21, 2020 |
| Cirrhosis of liver | 5 | Jun 26, 2018 |
| Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency | 2 | Dec 18, 2017 |
| Cobalamin C disease | 2 | Aug 10, 2020 |
| Cockayne syndrome type A | 1 | Jan 21, 2020 |
| Coenzyme Q10 deficiency, primary 1 | 3 | Jan 21, 2020 |
| Coenzyme Q10 deficiency, primary, 4 | 3 | Jan 21, 2020 |
| Coenzyme Q10 deficiency, primary, 5 | 1 | Apr 21, 2015 |
| Coenzyme Q10 deficiency, primary, 6 | 3 | Jan 21, 2020 |
| Coenzyme Q10 deficiency, primary, 7 | 3 | Jan 21, 2020 |
| Coffin-Siris syndrome 1 | 5 | Aug 10, 2020 |
| Coffin-Siris syndrome 6 | 2 | Aug 10, 2020 |
| Coffin-Siris syndrome 8 | 1 | Jan 21, 2020 |
| Cognitive impairment with or without cerebellar ataxia | 1 | Jan 21, 2020 |
| Cohen syndrome | 2 | Jan 28, 2020 |
| Combined oxidative phosphorylation deficiency 1 | 2 | Jan 21, 2020 |
| Combined oxidative phosphorylation deficiency 10 | 8 | Jan 21, 2020 |
| Combined oxidative phosphorylation deficiency 12 | 2 | Dec 18, 2017 |
| Combined oxidative phosphorylation deficiency 14 | 4 | Jan 28, 2020 |
| Combined oxidative phosphorylation deficiency 15 | 1 | Dec 18, 2017 |
| Combined oxidative phosphorylation deficiency 17 | 4 | Dec 18, 2017 |
| Combined oxidative phosphorylation deficiency 18 | 2 | Dec 18, 2017 |
| Combined oxidative phosphorylation deficiency 20 | 4 | Dec 18, 2017 |
| Combined oxidative phosphorylation deficiency 23 | 4 | Dec 18, 2017 |
| Combined oxidative phosphorylation deficiency 4 | 1 | Dec 18, 2017 |
| Combined oxidative phosphorylation deficiency 7 | 1 | Jan 28, 2020 |
| Combined oxidative phosphorylation deficiency 8 | 6 | Jan 21, 2020 |
| Common variable immunodeficiency 10 | 1 | Jan 21, 2020 |
| Cone-rod dystrophy 6 | 1 | Dec 18, 2017 |
| Congenital adrenal hypoplasia, X-linked | 25 | Oct 20, 2017 |
| Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay | 2 | Jan 21, 2020 |
| Congenital contractures of the limbs and face, hypotonia, and developmental delay | 1 | Aug 10, 2020 |
| Congenital disorder of deglycosylation | 3 | Jan 21, 2020 |
| Congenital disorder of glycosylation type 1N | 1 | Jan 21, 2020 |
| Congenital disorder of glycosylation type 1y | 1 | Aug 10, 2020 |
| Congenital disorder of glycosylation type 2B | 2 | Jan 21, 2020 |
| Congenital dyserythropoietic anemia, type I | 2 | Jan 21, 2020 |
| Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder | 1 | Aug 10, 2020 |
| Congenital heart defects, multiple types, 2 | 3 | Aug 10, 2020 |
| Congenital hyperammonemia, type I | 1 | Dec 18, 2017 |
| Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type | 1 | Dec 18, 2017 |
| Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1 | 2 | Dec 18, 2017 |
| Congenital muscular hypertrophy-cerebral syndrome | 2 | Jan 21, 2020 |
| Congenital myasthenic syndrome 4C | 2 | Jan 21, 2020 |
| Congenital myasthenic syndrome, acetazolamide-responsive | 2 | Jan 21, 2020 |
| Congenital myopathy with fiber type disproportion | 1 | Jan 21, 2020 |
| Congenital myotonia, autosomal recessive form | 2 | Jan 21, 2020 |
| Congenital secretory diarrhea, chloride type | 1 | Aug 10, 2020 |
| Cornelia de Lange syndrome 4 | 2 | Jan 21, 2020 |
| Cortical dysplasia, complex, with other brain malformations 2 | 1 | Dec 18, 2017 |
| Cortical dysplasia, complex, with other brain malformations 3 | 1 | Jan 21, 2020 |
| Cortical dysplasia, complex, with other brain malformations 5 | 2 | Jan 21, 2020 |
| Cortical dysplasia, complex, with other brain malformations 6 | 2 | Aug 10, 2020 |
| Cowden syndrome 1 | 2 | Aug 10, 2020 |
| Coxopodopatellar syndrome | 1 | Jan 21, 2020 |
| Craniofrontonasal syndrome | 1 | Jan 21, 2020 |
| Craniosynostosis 4 | 1 | Aug 10, 2020 |
| Creatine transporter deficiency | 2 | Aug 10, 2020 |
| Crouzon syndrome | 1 | Jan 21, 2020 |
| Cutis laxa, X-linked | 1 | Aug 10, 2020 |
| Cutis laxa, autosomal recessive IIIA | 2 | Jan 21, 2020 |
| Cystic fibrosis | 2 | Jan 21, 2020 |
| Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder | 1 | Jan 21, 2020 |
| DNAJC30-associated disorder | 1 | Aug 10, 2020 |
| DOORS syndrome | 2 | Jan 21, 2020 |
| DPAGT1-CDG | 1 | Jan 21, 2020 |
| Danon disease | 1 | Jan 21, 2020 |
| Deafness, autosomal dominant 20 | 1 | Jan 21, 2020 |
| Deafness, autosomal recessive 1A | 1 | Jan 21, 2020 |
| Deficiency of aromatic-L-amino-acid decarboxylase | 1 | Jan 21, 2020 |
| Dejerine-Sottas disease | 2 | Jan 21, 2020 |
| Dent disease type 1 | 2 | Jan 21, 2020 |
| Desmosterolosis | 2 | Jan 21, 2020 |
| Developmental and epileptic encephalopathy, 56 | 1 | Jan 21, 2020 |
| Developmental and epileptic encephalopathy, 64 | 2 | Jan 21, 2020 |
| Developmental and epileptic encephalopathy, 65 | 4 | Aug 10, 2020 |
| Developmental and epileptic encephalopathy, 69 | 1 | Aug 10, 2020 |
| Developmental and epileptic encephalopathy, 78 | 1 | Aug 10, 2020 |
| Developmental and epileptic encephalopathy, 80 | 2 | Aug 10, 2020 |
| Developmental and epileptic encephalopathy, 81 | 1 | Aug 10, 2020 |
| Developmental delay and seizures with or without movement abnormalities | 2 | Jan 21, 2020 |
| Developmental delay with variable intellectual impairment and behavioral abnormalities | 2 | Aug 10, 2020 |
| Developmental malformations-deafness-dystonia syndrome | 1 | Jan 21, 2020 |
| Diamond-Blackfan anemia 5 | 1 | Jan 21, 2020 |
| Diarrhea 5, with tufting enteropathy, congenital | 1 | Dec 18, 2017 |
| Diets-Jongmans syndrome | 1 | Aug 10, 2020 |
| Dilatation | 5 | Jun 26, 2018 |
| Dilated cardiomyopathy 1S | 2 | Jan 21, 2020 |
| Dilated cardiomyopathy 3B | 1 | Dec 18, 2017 |
| Dilated cardiomyopathy with woolly hair and keratoderma | 1 | Jan 21, 2020 |
| Distal arthrogryposis type 5D | 1 | Dec 18, 2017 |
| Distal myopathy, Tateyama type | 1 | Aug 10, 2020 |
| Dopa-responsive dystonia due to sepiapterin reductase deficiency | 1 | Jan 21, 2020 |
| Drash syndrome | 1 | Jan 21, 2020 |
| Dyskinesia, familial, with facial myokymia | 4 | Jan 21, 2020 |
| Dyskinesia, limb and orofacial, infantile-onset | 1 | Jan 21, 2020 |
| Dystonia 1 | 1 | Aug 10, 2020 |
| Dystonia 12 | 3 | Jan 21, 2020 |
| Dystonia 24 | 2 | Jan 21, 2020 |
| Dystonia 28, childhood-onset | 10 | Aug 10, 2020 |
| Dystonia 5 | 1 | Jan 28, 2020 |
| Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities | 2 | Jan 21, 2020 |
| ERI1-associated disorder | 1 | Aug 10, 2020 |
| Early infantile epileptic encephalopathy 10 | 2 | Jan 21, 2020 |
| Early infantile epileptic encephalopathy 11 | 4 | Jan 21, 2020 |
| Early infantile epileptic encephalopathy 13 | 1 | Dec 18, 2017 |
| Early infantile epileptic encephalopathy 14 | 1 | Jan 21, 2020 |
| Early infantile epileptic encephalopathy 17 | 1 | Dec 18, 2017 |
| Early infantile epileptic encephalopathy 2 | 2 | Dec 18, 2017 |
| Early infantile epileptic encephalopathy 4 | 3 | Aug 10, 2020 |
| Early infantile epileptic encephalopathy 55 | 1 | Jan 21, 2020 |
| Early infantile epileptic encephalopathy 7 | 2 | Dec 18, 2017 |
| Ectodermal dysplasia-syndactyly syndrome 1 | 1 | Jan 21, 2020 |
| Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss | 1 | Jan 21, 2020 |
| Ellis-van Creveld syndrome | 2 | Dec 18, 2017 |
| Emery-Dreifuss muscular dystrophy 2, autosomal dominant | 1 | Dec 18, 2017 |
| Encephalopathy due to defective mitochondrial and peroxisomal fission 1 | 1 | Dec 18, 2017 |
| Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities | 2 | Jan 21, 2020 |
| Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum | 6 | Aug 10, 2020 |
| Epilepsy, early-onset, with or without developmental delay | 1 | Aug 10, 2020 |
| Epilepsy, focal, with speech disorder and with or without mental retardation | 2 | Aug 10, 2020 |
| Epilepsy, hearing loss, and mental retardation syndrome | 4 | Dec 18, 2017 |
| Epilepsy, idiopathic generalized, susceptibility to, 15 | 1 | Jan 21, 2020 |
| Epilepsy, progressive myoclonic 4, with or without renal failure | 1 | Jan 21, 2020 |
| Epilepsy, progressive myoclonic 7 | 1 | Dec 18, 2017 |
| Epileptic encephalopathy, childhood-onset | 1 | Jan 21, 2020 |
| Epileptic encephalopathy, early infantile, 19 | 1 | Jan 21, 2020 |
| Epileptic encephalopathy, early infantile, 25 | 3 | Aug 10, 2020 |
| Epileptic encephalopathy, early infantile, 26 | 1 | Aug 10, 2020 |
| Epileptic encephalopathy, early infantile, 28 | 1 | Jan 28, 2020 |
| Epileptic encephalopathy, early infantile, 29 | 2 | Aug 10, 2020 |
| Epileptic encephalopathy, early infantile, 35 | 2 | Jan 21, 2020 |
| Epileptic encephalopathy, early infantile, 37 | 1 | Dec 18, 2017 |
| Epileptic encephalopathy, early infantile, 42 | 2 | Aug 10, 2020 |
| Epileptic encephalopathy, early infantile, 44 | 1 | Dec 18, 2017 |
| Epileptic encephalopathy, early infantile, 50 | 3 | Dec 18, 2017 |
| Epileptic encephalopathy, early infantile, 54 | 1 | Aug 10, 2020 |
| Epiphyseal dysplasia, multiple, 3 | 1 | Dec 18, 2017 |
| Episodic ataxia type 2 | 1 | Jan 21, 2020 |
| Erythrokeratodermia variabilis et progressiva 3 | 1 | Jan 21, 2020 |
| Ethylmalonic encephalopathy | 3 | Dec 18, 2017 |
| Familial X-linked hypophosphatemic vitamin D refractory rickets | 111 | Aug 31, 2017 |
| Familial adenomatous polyposis 1 | 1 | Aug 10, 2020 |
| Familial hypercholesterolemia 1 | 2 | Aug 10, 2020 |
| Familial hypercholesterolemia 2 | 1 | Aug 10, 2020 |
| Familial hypertrophic cardiomyopathy 1 | 1 | Jan 21, 2020 |
| Familial hypertrophic cardiomyopathy 4 | 1 | Jan 21, 2020 |
| Familial hypertrophic cardiomyopathy 7 | 1 | Dec 18, 2017 |
| Familial hypokalemia-hypomagnesemia | 1 | Dec 18, 2017 |
| Familial juvenile gout | 1 | Dec 18, 2017 |
| Familial restrictive cardiomyopathy 1 | 1 | Aug 10, 2020 |
| Fanconi anemia, complementation group A | 1 | Dec 18, 2017 |
| Feeding difficulties | 5 | Sep 24, 2019 |
| Fibrochondrogenesis 2 | 1 | Jan 21, 2020 |
| Fibromatosis, gingival, 5 | 1 | Jan 21, 2020 |
| Finnish congenital nephrotic syndrome | 2 | Jan 21, 2020 |
| Focal segmental glomerulosclerosis 5 | 1 | Jan 21, 2020 |
| Focal segmental glomerulosclerosis 6 | 1 | Jan 21, 2020 |
| Focal segmental glomerulosclerosis 7 | 1 | Jan 21, 2020 |
| Frasier syndrome | 1 | Aug 10, 2020 |
| Frontotemporal dementia | 6 | Jan 21, 2020 |
| Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 | 6 | Jan 28, 2020 |
| Fucosidosis | 2 | Dec 18, 2017 |
| GLUT1 deficiency syndrome 1 | 4 | Jan 21, 2020 |
| GM1 gangliosidosis type 2 | 2 | Jan 21, 2020 |
| GRACILE syndrome | 1 | Dec 18, 2017 |
| Gabriele de Vries syndrome | 2 | Aug 10, 2020 |
| Galloway-Mowat syndrome 1 | 2 | Jan 21, 2020 |
| Galloway-Mowat syndrome 3 | 1 | Aug 10, 2020 |
| Geleophysic dysplasia 3 | 1 | Aug 10, 2020 |
| Generalized epilepsy with febrile seizures plus, type 2 | 3 | Jan 21, 2020 |
| Generalized epilepsy with febrile seizures plus, type 9 | 2 | Jan 21, 2020 |
| Generalized hypotonia | 5 | Sep 24, 2019 |
| Genitopatellar syndrome | 1 | Jan 21, 2020 |
| Genitourinary and/or brain malformation syndrome | 1 | Aug 10, 2020 |
| Gillespie syndrome | 1 | Jan 21, 2020 |
| Global developmental delay | 1 | Jun 5, 2019 |
| Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies | 2 | Jan 21, 2020 |
| Glomerulocystic kidney disease with hyperuricemia and isosthenuria | 1 | Jan 21, 2020 |
| Glomuvenous malformations | 1 | Aug 10, 2020 |
| Glucose-6-phosphate transport defect | 2 | Dec 18, 2017 |
| Glutaric aciduria, type 1 | 3 | Aug 10, 2020 |
| Glycogen storage disease XI | 1 | Aug 10, 2020 |
| Glycogen storage disease type III | 2 | Aug 10, 2020 |
| Glycogen storage disease type IXa1 | 2 | Jan 21, 2020 |
| Glycogen storage disease, type II | 1 | Dec 18, 2017 |
| Glycogen storage disease, type V | 1 | Jan 21, 2020 |
| Gordon Holmes syndrome | 1 | Jan 28, 2020 |
| Gorlin syndrome | 2 | Jan 21, 2020 |
| Grange syndrome | 2 | Aug 10, 2020 |
| Grn-related frontotemporal lobar degeneration with Tdp43 inclusions | 14 | Aug 10, 2020 |
| HIST1H4C-associated disorder | 1 | Aug 10, 2020 |
| HSD10 disease | 2 | Jan 28, 2020 |
| Harel-Yoon syndrome | 1 | Aug 10, 2020 |
| Hereditary factor VIII deficiency disease | 1 | Dec 18, 2017 |
| Hereditary hemorrhagic telangiectasia type 1 | 2 | Aug 10, 2020 |
| Hereditary leiomyomatosis and renal cell cancer | 1 | Aug 10, 2020 |
| Hereditary motor and sensory neuropathy with optic atrophy | 2 | Jan 21, 2020 |
| Hereditary spastic paraplegia 2 | 1 | Dec 18, 2017 |
| Hereditary spastic paraplegia 39 | 2 | Jan 21, 2020 |
| Hereditary spastic paraplegia 3A | 1 | Jan 21, 2020 |
| Hereditary spastic paraplegia 5A | 2 | Jan 21, 2020 |
| Hereditary spastic paraplegia 7 | 3 | Jan 21, 2020 |
| Heterotaxy, visceral, 7, autosomal | 2 | Aug 10, 2020 |
| Holoprosencephaly 3 | 1 | Aug 10, 2020 |
| Holt-Oram syndrome | 1 | Dec 18, 2017 |
| Hyperaldosteronism, familial, type II | 1 | Dec 22, 2017 |
| Hyperekplexia 1 | 2 | Jan 21, 2020 |
| Hyperinsulinemic hypoglycemia, familial, 1 | 1 | Jan 21, 2020 |
| Hyperphosphatemic familial tumoral calcinosis 1 | 3 | Oct 20, 2017 |
| Hypertrichotic osteochondrodysplasia Cantu type | 1 | Aug 10, 2020 |
| Hypogonadotropic hypogonadism 2 with or without anosmia | 1 | Jan 21, 2020 |
| Hypogonadotropic hypogonadism 7 with or without anosmia | 2 | Jan 21, 2020 |
| Hypohidrotic X-linked ectodermal dysplasia | 1 | Jan 21, 2020 |
| Hypomagnesemia, seizures, and mental retardation 1 | 1 | Dec 18, 2017 |
| Hypomyelinating leukodystrophy 7 | 4 | Aug 10, 2020 |
| Hypomyelination, global cerebral | 2 | Jan 28, 2020 |
| Hypophosphatemic rickets, autosomal recessive, 2 | 4 | Oct 20, 2017 |
| Hypothyroidism, central, and testicular enlargement | 1 | Jan 21, 2020 |
| Hypotonia, ataxia, and delayed development syndrome | 1 | Aug 10, 2020 |
| Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 | 1 | Dec 18, 2017 |
| Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 | 2 | Jan 21, 2020 |
| Ichthyosis vulgaris | 1 | Aug 10, 2020 |
| Ichthyosis, congenital, autosomal recessive 13 | 3 | Jan 21, 2020 |
| Idiopathic nephrotic syndrome | 5 | Jan 21, 2020 |
| Imagawa-Matsumoto syndrome | 1 | Aug 10, 2020 |
| Immunoglobulin A deficiency 2 | 1 | Aug 10, 2020 |
| Indifference to pain, congenital, autosomal recessive | 1 | Dec 18, 2017 |
| Infantile neuroaxonal dystrophy | 3 | Jan 21, 2020 |
| Infantile onset spinocerebellar ataxia | 2 | Dec 18, 2017 |
| Infantile spasms | 5 | Sep 24, 2019 |
| Infantile-onset ascending hereditary spastic paralysis | 3 | Jan 21, 2020 |
| Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature | 1 | Jan 21, 2020 |
| Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities | 3 | Aug 10, 2020 |
| Intellectual developmental disorder with hypotonia and behavioral abnormalities | 1 | Aug 10, 2020 |
| Intellectual developmental disorder with macrocephaly, seizures, and speech delay | 1 | Jan 21, 2020 |
| Intellectual developmental disorder with or without epilepsy or cerebellar ataxia | 1 | Jan 21, 2020 |
| Intellectual developmental disorder with speech delay, autism, and dysmorphic facies | 1 | Aug 10, 2020 |
| Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities | 4 | Aug 10, 2020 |
| Intellectual disability, X-linked 21 | 1 | Jan 28, 2020 |
| Intellectual disability, autosomal dominant 50 | 1 | Jan 21, 2020 |
| Intellectual disability, autosomal dominant 55, with seizures | 1 | Jan 21, 2020 |
| Intellectual disability, autosomal dominant 9 | 1 | Jan 21, 2020 |
| Intellectual disability, x-linked 107 | 1 | Aug 10, 2020 |
| Intellectual disability-developmental delay-contractures syndrome | 1 | Jan 21, 2020 |
| Interstitial pneumonitis | 5 | Jun 26, 2018 |
| Intrinsic factor deficiency | 1 | Jan 21, 2020 |
| Isolated growth hormone deficiency, type 4 | 1 | Jan 21, 2020 |
| Joubert syndrome 17 | 2 | Aug 10, 2020 |
| Joubert syndrome 23 | 1 | Jan 21, 2020 |
| Joubert syndrome 33 | 2 | Jan 21, 2020 |
| Joubert syndrome 5 | 2 | Jan 21, 2020 |
| Juvenile primary lateral sclerosis | 2 | Jan 21, 2020 |
| KBG syndrome | 5 | Aug 10, 2020 |
| Kabuki syndrome 1 | 8 | Aug 10, 2020 |
| Kabuki syndrome 2 | 2 | Aug 10, 2020 |
| Kartagener syndrome | 2 | Jan 21, 2020 |
| Kaufman oculocerebrofacial syndrome | 2 | Dec 18, 2017 |
| Keratosis follicularis | 1 | Jan 21, 2020 |
| Kleefstra syndrome 1 | 1 | Aug 10, 2020 |
| Kleefstra syndrome 2 | 1 | Jan 21, 2020 |
| Klippel-feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism | 1 | Jan 21, 2020 |
| Lactic acidosis | 3 | Mar 5, 2019 |
| Lamb-shaffer syndrome | 1 | Jan 21, 2020 |
| Laron-type isolated somatotropin defect | 1 | Jan 21, 2020 |
| Left ventricular noncompaction 10 | 1 | Aug 10, 2020 |
| Left ventricular noncompaction 6 | 1 | Jan 21, 2020 |
| Leigh syndrome | 5 | Jan 21, 2020 |
| Lethal congenital contracture syndrome 11 | 2 | Jan 21, 2020 |
| Leukocyte adhesion deficiency type II | 1 | Aug 10, 2020 |
| Leukodystrophy, hypomyelinating, 6 | 3 | Jan 21, 2020 |
| Leukoencephalopathy with ataxia | 1 | Jan 28, 2020 |
| Leukoencephalopathy with dystonia and motor neuropathy | 1 | Dec 18, 2017 |
| Leukoencephalopathy with vanishing white matter | 2 | Jan 21, 2020 |
| Limb-girdle muscular dystrophy, type 2L | 1 | Jan 21, 2020 |
| Limb-girdle muscular dystrophy, type 2S | 1 | Dec 18, 2017 |
| Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 | 2 | Jan 21, 2020 |
| Lissencephaly 3 | 1 | Dec 18, 2017 |
| Loeys-Dietz syndrome 1 | 1 | Dec 18, 2017 |
| Loeys-Dietz syndrome 2 | 1 | Jan 21, 2020 |
| Long QT syndrome 15 | 2 | Jan 21, 2020 |
| Long QT syndrome 2 | 1 | Dec 18, 2017 |
| Luscan-lumish syndrome | 1 | Aug 10, 2020 |
| MANEAL-associated disorder | 1 | Aug 10, 2020 |
| MEHMO syndrome | 1 | Dec 18, 2017 |
| MPDU1-CDG | 1 | Dec 18, 2017 |
| Macrocephalus | 1 | Dec 18, 2017 |
| Macrocephaly/autism syndrome | 1 | Jan 21, 2020 |
| Maleylacetoacetate isomerase deficiency | 1 | Jan 21, 2020 |
| Marfan syndrome | 2 | Jan 21, 2020 |
| Meckel syndrome, type 3 | 2 | Jan 21, 2020 |
| Medium-chain acyl-coenzyme A dehydrogenase deficiency | 2 | Jan 21, 2020 |
| Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | 1 | Aug 10, 2020 |
| Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 | 1 | Jan 21, 2020 |
| Mental retardation 49, X-linked | 1 | Jan 21, 2020 |
| Mental retardation and distinctive facial features with or without cardiac defects | 2 | Jan 21, 2020 |
| Mental retardation with language impairment and with or without autistic features | 1 | Jan 21, 2020 |
| Mental retardation, X-linked 102 | 4 | Aug 10, 2020 |
| Mental retardation, X-linked 12 | 1 | Jan 21, 2020 |
| Mental retardation, X-linked 98 | 1 | Aug 10, 2020 |
| Mental retardation, X-linked 99, syndromic, female-restricted | 1 | Dec 18, 2017 |
| Mental retardation, X-linked, syndromic 34 | 1 | Jan 21, 2020 |
| Mental retardation, X-linked, syndromic, Bain type | 2 | Jan 21, 2020 |
| Mental retardation, autosomal dominant 13 | 1 | Dec 18, 2017 |
| Mental retardation, autosomal dominant 15 | 1 | Dec 18, 2017 |
| Mental retardation, autosomal dominant 16 | 3 | Jan 21, 2020 |
| Mental retardation, autosomal dominant 19 | 2 | Jan 21, 2020 |
| Mental retardation, autosomal dominant 21 | 2 | Aug 10, 2020 |
| Mental retardation, autosomal dominant 22 | 1 | Jan 21, 2020 |
| Mental retardation, autosomal dominant 23 | 3 | Aug 10, 2020 |
| Mental retardation, autosomal dominant 26 | 3 | Jan 21, 2020 |
| Mental retardation, autosomal dominant 27 | 1 | Jan 21, 2020 |
| Mental retardation, autosomal dominant 29 | 1 | Jan 21, 2020 |
| Mental retardation, autosomal dominant 30 | 1 | Jan 28, 2020 |
| Mental retardation, autosomal dominant 31 | 5 | Aug 10, 2020 |
| Mental retardation, autosomal dominant 32 | 2 | Jan 21, 2020 |
| Mental retardation, autosomal dominant 35 | 1 | Jan 21, 2020 |
| Mental retardation, autosomal dominant 36 | 1 | Dec 18, 2017 |
| Mental retardation, autosomal dominant 40 | 1 | Jan 21, 2020 |
| Mental retardation, autosomal dominant 41 | 2 | Aug 10, 2020 |
| Mental retardation, autosomal dominant 42 | 2 | Aug 10, 2020 |
| Mental retardation, autosomal dominant 44 | 2 | Jan 21, 2020 |
| Mental retardation, autosomal dominant 5 | 1 | Jan 21, 2020 |
| Mental retardation, autosomal dominant 57 | 1 | Jan 21, 2020 |
| Mental retardation, autosomal dominant 58 | 1 | Jan 21, 2020 |
| Mental retardation, autosomal dominant 6 | 1 | Jan 21, 2020 |
| Mental retardation, autosomal dominant 7 | 2 | Aug 10, 2020 |
| Mental retardation, autosomal recessive 38 | 1 | Jan 28, 2020 |
| Mental retardation, autosomal recessive 41 | 1 | Jan 21, 2020 |
| Mental retardation, autosomal recessive 53 | 2 | Jan 21, 2020 |
| Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations | 1 | Dec 18, 2017 |
| Mental retardation, syndromic 14, X-linked | 2 | Jan 21, 2020 |
| Meretoja syndrome | 2 | Jan 21, 2020 |
| Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression | 2 | Aug 10, 2020 |
| Metachromatic leukodystrophy | 4 | Jan 21, 2020 |
| Methylmalonic acidemia with homocystinuria, type cblJ | 2 | Aug 10, 2020 |
| Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | 3 | Jan 21, 2020 |
| Mevalonic aciduria | 3 | Aug 10, 2020 |
| Microcephaly 24, primary, autosomal recessive | 1 | Jan 21, 2020 |
| Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation | 2 | Jan 21, 2020 |
| Microcephaly, short stature, and limb abnormalities | 2 | Dec 18, 2017 |
| Minicore myopathy with external ophthalmoplegia | 4 | Jan 21, 2020 |
| Mitochondrial DNA depletion syndrome 12b (cardiomyopathic type), autosomal recessive | 1 | Dec 18, 2017 |
| Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) | 7 | Aug 10, 2020 |
| Mitochondrial DNA-depletion syndrome 3, hepatocerebral | 2 | Dec 18, 2017 |
| Mitochondrial complex 1 deficiency, nuclear type 31 | 1 | Jan 21, 2020 |
| Mitochondrial complex 1 deficiency, nuclear type 4 | 2 | Aug 10, 2020 |
| Mitochondrial complex I deficiency | 2 | Dec 18, 2017 |
| Mitochondrial complex III deficiency, nuclear type 2 | 1 | Aug 10, 2020 |
| Mitochondrial complex IV deficiency | 2 | Jan 21, 2020 |
| Mitochondrial pyruvate carrier deficiency | 1 | Dec 18, 2017 |
| Mitochondrial short-chain enoyl-coa hydratase 1 deficiency | 8 | Dec 18, 2017 |
| Miyoshi muscular dystrophy 3 | 3 | Aug 10, 2020 |
| Mowat-Wilson syndrome | 4 | Jan 21, 2020 |
| Mullegama-Klein-Martinez syndrome | 2 | Jan 21, 2020 |
| Multicentric carpo-tarsal osteolysis with or without nephropathy | 1 | Jan 21, 2020 |
| Multiple acyl-CoA dehydrogenase deficiency | 1 | Dec 18, 2017 |
| Multiple congenital anomalies-hypotonia-seizures syndrome 1 | 5 | Jan 21, 2020 |
| Multiple congenital anomalies-hypotonia-seizures syndrome 2 | 2 | Jan 21, 2020 |
| Multiple epiphyseal dysplasia 1 | 1 | Jan 21, 2020 |
| Multiple mitochondrial dysfunctions syndrome 1 | 2 | Dec 18, 2017 |
| Multiple mitochondrial dysfunctions syndrome 4 | 1 | Dec 18, 2017 |
| Multiple sulfatase deficiency | 1 | Dec 18, 2017 |
| Multisystemic smooth muscle dysfunction syndrome | 1 | Aug 10, 2020 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 | 1 | Dec 18, 2017 |
| Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 14 | 1 | Aug 10, 2020 |
| Myasthenia, limb-girdle, familial | 1 | Aug 10, 2020 |
| Myasthenic syndrome, congenital, 19 | 1 | Dec 18, 2017 |
| Myhre syndrome | 1 | Aug 10, 2020 |
| Myoclonic dystonia 11 | 9 | Aug 10, 2020 |
| Myoclonic-atonic epilepsy | 1 | Jan 21, 2020 |
| Myofibrillar myopathy 1 | 1 | Jan 21, 2020 |
| Myofibrillar myopathy 3 | 1 | Jan 21, 2020 |
| Myoglobinuria, acute recurrent, autosomal recessive | 1 | Jan 21, 2020 |
| Myopathy, congenital, progressive, with scoliosis | 1 | Aug 10, 2020 |
| Myopathy, distal, 1 | 2 | Dec 18, 2017 |
| N-terminal acetyltransferase deficiency | 1 | Dec 18, 2017 |
| Nail-patella syndrome | 4 | Aug 10, 2020 |
| Nemaline myopathy 10 | 1 | Jan 21, 2020 |
| Nemaline myopathy 2 | 6 | Jan 28, 2020 |
| Nemaline myopathy 3 | 2 | Jan 21, 2020 |
| Nemaline myopathy 8 | 1 | Jan 21, 2020 |
| Nephrotic syndrome, type 13 | 1 | Jan 21, 2020 |
| Nephrotic syndrome, type 3 | 1 | Jan 28, 2020 |
| Nephrotic syndrome, type 7 | 1 | Jan 21, 2020 |
| Nephrotic syndrome, type 9 | 1 | Jan 21, 2020 |
| Neurodegeneration with brain iron accumulation 2b | 2 | Jan 21, 2020 |
| Neurodegeneration with brain iron accumulation 4 | 2 | Aug 10, 2020 |
| Neurodegeneration with brain iron accumulation 5 | 4 | Aug 10, 2020 |
| Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures | 2 | Jan 21, 2020 |
| Neurodevelopmental disorder and language delay with or without structural brain abnormalities | 3 | Aug 10, 2020 |
| Neurodevelopmental disorder with hypotonia, seizures, and absent language | 2 | Jan 21, 2020 |
| Neurodevelopmental disorder with impaired speech and hyperkinetic movements | 4 | Jan 21, 2020 |
| Neurodevelopmental disorder with involuntary movements | 2 | Jan 21, 2020 |
| Neurodevelopmental disorder with language impairment and behavioral abnormalities | 1 | Aug 10, 2020 |
| Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies | 2 | Aug 10, 2020 |
| Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy | 3 | Aug 10, 2020 |
| Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant | 2 | Jan 21, 2020 |
| Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA | 2 | Aug 10, 2020 |
| Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies | 1 | Jan 21, 2020 |
| Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures | 1 | Aug 10, 2020 |
| Neurodevelopmental disorder with visual defects and brain anomalies | 1 | Aug 10, 2020 |
| Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures | 6 | Aug 10, 2020 |
| Neurofibromatosis, type 1 | 3 | Aug 10, 2020 |
| Neuronal ceroid lipofuscinosis 3 | 2 | Jan 28, 2020 |
| Neuronal ceroid lipofuscinosis 7 | 1 | Dec 18, 2017 |
| Neuropathy, hereditary motor and sensory, type 6B | 1 | Dec 18, 2017 |
| Niemann-Pick disease type C1 | 3 | Jan 21, 2020 |
| Non-ketotic hyperglycinemia | 2 | Jan 21, 2020 |
| Non-progressive neurodevelopmental disorder with spasticity and transient opisthotonus | 8 | Jul 26, 2019 |
| Noonan syndrome 1 | 9 | Aug 10, 2020 |
| Noonan syndrome 5 | 2 | Aug 10, 2020 |
| Noonan syndrome 8 | 2 | Jan 21, 2020 |
| Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia | 1 | Jan 21, 2020 |
| Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2 | 3 | Jan 21, 2020 |
| Oculopharyngeal muscular dystrophy | 1 | Jan 21, 2020 |
| Odonto-onycho-dermal dysplasia | 1 | Jan 21, 2020 |
| Okur-chung neurodevelopmental syndrome | 1 | Aug 10, 2020 |
| Optic atrophy 10 with or without ataxia, mental retardation, and seizures | 1 | Jan 21, 2020 |
| Ornithine aminotransferase deficiency | 1 | Jan 21, 2020 |
| Osteogenesis imperfecta type I | 1 | Jan 21, 2020 |
| Osteogenesis imperfecta with normal sclerae, dominant form | 1 | Jan 21, 2020 |
| Osteopetrosis, autosomal recessive 5 | 1 | Dec 18, 2017 |
| Oto-palato-digital syndrome, type I | 1 | Jan 21, 2020 |
| POU3F2-associated disorder | 1 | Aug 10, 2020 |
| Pachyonychia congenita 1 | 1 | Dec 18, 2017 |
| Paramyotonia congenita of von Eulenburg | 2 | Aug 10, 2020 |
| Parkinson disease 15 | 2 | Dec 18, 2017 |
| Parkinson disease 19a, juvenile-onset | 1 | Aug 10, 2020 |
| Parkinson disease 2 | 4 | Aug 10, 2020 |
| Parkinson disease 6, autosomal recessive early-onset | 1 | Jan 21, 2020 |
| Parkinson disease 8, autosomal dominant | 1 | Dec 18, 2017 |
| Parkinson disease, late-onset | 3 | Jan 28, 2020 |
| Parkinsonism-dystonia, infantile, 1 | 1 | Jan 21, 2020 |
| Periventricular nodular heterotopia 1 | 1 | Jan 21, 2020 |
| Peroxisome biogenesis disorder 1A (Zellweger) | 3 | Dec 18, 2017 |
| Persistent fetal circulation syndrome | 1 | Jan 28, 2020 |
| Phosphoenolpyruvate carboxykinase deficiency, cytosolic | 2 | Jan 21, 2020 |
| Phosphoribosylpyrophosphate synthetase superactivity | 1 | Jan 21, 2020 |
| Pigmentary pallidal degeneration | 5 | Jan 28, 2020 |
| Pigmented nodular adrenocortical disease, primary, 4 | 2 | Dec 10, 2014 |
| Pitt-Hopkins syndrome | 3 | Jan 21, 2020 |
| Pituitary dependent hypercortisolism | 5 | Nov 18, 2014 |
| Polyarteritis nodosa, childhoood-onset | 3 | Aug 10, 2020 |
| Polycystic kidney disease, adult type | 3 | Jan 28, 2020 |
| Polyglucosan body myopathy 1 with or without immunodeficiency | 1 | Jan 21, 2020 |
| Pontocerebellar hypoplasia type 6 | 3 | Jan 21, 2020 |
| Pontocerebellar hypoplasia, type 1b | 1 | Dec 18, 2017 |
| Pontocerebellar hypoplasia, type 9 | 1 | Dec 18, 2017 |
| Porencephaly 2 | 1 | Jan 21, 2020 |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6 | 1 | Jan 21, 2020 |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 | 4 | Jan 21, 2020 |
| Progressive myositis ossificans | 1 | Jan 21, 2020 |
| Prolidase deficiency | 2 | Jan 21, 2020 |
| Propionic acidemia | 3 | Mar 5, 2019 |
| Proprotein convertase 1/3 deficiency | 2 | Jan 21, 2020 |
| Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome | 1 | Jan 21, 2020 |
| Pulmonary alveolar proteinosis | 3 | Dec 2, 2014 |
| Pyruvate carboxylase deficiency | 1 | Aug 10, 2020 |
| Pyruvate dehydrogenase E1-alpha deficiency | 10 | Aug 10, 2020 |
| Pyruvate dehydrogenase E3-binding protein deficiency | 1 | Dec 18, 2017 |
| Rapp-Hodgkin ectodermal dysplasia syndrome | 1 | Jan 21, 2020 |
| Renal coloboma syndrome | 1 | Jan 21, 2020 |
| Renal dysplasia | 1 | Jan 21, 2020 |
| Renpenning syndrome 1 | 1 | Jan 21, 2020 |
| Respiratory distress | 5 | Sep 24, 2019 |
| Retinal dystrophy, iris coloboma, and comedogenic acne syndrome | 1 | Aug 10, 2020 |
| Rett syndrome | 7 | Aug 10, 2020 |
| Rett syndrome, congenital variant | 4 | Aug 10, 2020 |
| Robinow syndrome, autosomal dominant 2 | 1 | Jan 21, 2020 |
| SETD1B-associated disorder | 1 | Aug 10, 2020 |
| SPATA5L1-associated disorder | 7 | Aug 10, 2020 |
| Saldino-Mainzer syndrome | 2 | Jan 28, 2020 |
| Seizures, benign familial infantile, 2 | 1 | Jan 21, 2020 |
| Sengers syndrome | 2 | Dec 18, 2017 |
| Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome | 5 | Jan 21, 2020 |
| Severe X-linked myotubular myopathy | 2 | Jan 21, 2020 |
| Severe myoclonic epilepsy in infancy | 2 | Jan 28, 2020 |
| Short stature with microcephaly and distinctive facies | 1 | Aug 10, 2020 |
| Short-rib thoracic dysplasia 17 with or without polydactyly | 1 | Jan 28, 2020 |
| Short-rib thoracic dysplasia 3 with or without polydactyly | 2 | Jan 21, 2020 |
| Shwachman-Diamond syndrome 1 | 3 | Aug 10, 2020 |
| Siddiqi syndrome | 1 | Aug 10, 2020 |
| Sifrim-Hitz-Weiss syndrome | 1 | Aug 10, 2020 |
| Smith-Kingsmore syndrome | 1 | Jan 21, 2020 |
| Smith-Lemli-Opitz syndrome | 2 | Dec 18, 2017 |
| Smith-Magenis syndrome | 1 | Jan 21, 2020 |
| Snijders blok-campeau syndrome | 2 | Aug 10, 2020 |
| Snijders blok-fisher syndrome | 2 | Aug 10, 2020 |
| Sotos syndrome 1 | 3 | Jan 21, 2020 |
| Sotos syndrome 2 | 1 | Aug 10, 2020 |
| Spastic paraplegia 11, autosomal recessive | 2 | Jan 21, 2020 |
| Spastic paraplegia 30, autosomal recessive | 2 | Jan 21, 2020 |
| Spastic paraplegia 35 | 3 | Jan 21, 2020 |
| Spastic paraplegia 4, autosomal dominant | 7 | Jan 21, 2020 |
| Spastic paraplegia 52, autosomal recessive | 1 | Dec 18, 2017 |
| Spastic paraplegia 75, autosomal recessive | 3 | Aug 10, 2020 |
| Spastic paraplegia 82, autosomal recessive | 1 | Aug 10, 2020 |
| Speech-language disorder 1 | 1 | Jan 21, 2020 |
| Spermatogenic failure 31 | 1 | Jan 21, 2020 |
| Spinal muscular atrophy, distal, autosomal recessive, 1 | 1 | Jan 21, 2020 |
| Spinal muscular atrophy, lower extremity predominant 1, autosomal dominant | 1 | Jan 21, 2020 |
| Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant | 1 | Jan 21, 2020 |
| Spinocerebellar ataxia 48 | 1 | Aug 10, 2020 |
| Spinocerebellar ataxia type 19/22 | 1 | Aug 10, 2020 |
| Spinocerebellar ataxia type 27 | 1 | Aug 10, 2020 |
| Spinocerebellar ataxia type 28 | 2 | Jan 21, 2020 |
| Spinocerebellar ataxia type 5 | 2 | Jan 21, 2020 |
| Spinocerebellar ataxia type 6 | 1 | Jan 21, 2020 |
| Spinocerebellar ataxia, autosomal recessive 10 | 2 | Aug 10, 2020 |
| Spinocerebellar ataxia, autosomal recessive 17 | 2 | Aug 10, 2020 |
| Spinocerebellar ataxia, autosomal recessive 18 | 1 | Dec 18, 2017 |
| Spinocerebellar ataxia, autosomal recessive 8 | 3 | Jan 21, 2020 |
| Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 | 3 | Jan 21, 2020 |
| Spondylocarpotarsal synostosis syndrome | 2 | Jan 21, 2020 |
| Spondyloepimetaphyseal dysplasia, Genevieve type | 1 | Jan 21, 2020 |
| Spondyloepimetaphyseal dysplasia, pakistani type | 1 | Aug 10, 2020 |
| Spondyloepiphyseal dysplasia, kondo-fu type | 2 | Aug 10, 2020 |
| Spondyloperipheral dysplasia-short ulna syndrome | 1 | Jan 21, 2020 |
| Stankiewicz-Isidor syndrome | 1 | Jan 21, 2020 |
| Steel syndrome | 2 | Jan 21, 2020 |
| Stickler syndrome type 1 | 1 | Jan 21, 2020 |
| Striatal degeneration, autosomal dominant 2 | 1 | Jan 21, 2020 |
| Striatal necrosis, bilateral, and progressive polyneuropathy | 1 | Dec 18, 2017 |
| Syndromic X-linked intellectual disability Turner type | 2 | Jan 21, 2020 |
| Takenouchi-Kosaki syndrome | 1 | Dec 18, 2017 |
| Tay-Sachs disease | 2 | Dec 18, 2017 |
| Tetralogy of Fallot | 1 | Dec 18, 2017 |
| Thanatophoric dysplasia type 1 | 1 | Aug 10, 2020 |
| Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) | 2 | Dec 18, 2017 |
| Thyroid dyshormonogenesis 6 | 1 | Jan 21, 2020 |
| Tibial muscular dystrophy | 1 | Aug 10, 2020 |
| Torsion dystonia 6 | 2 | Jan 21, 2020 |
| Townes-Brocks syndrome 1 | 2 | Aug 10, 2020 |
| Treacher Collins syndrome 1 | 1 | Jan 21, 2020 |
| Trichorhinophalangeal dysplasia type I | 1 | Jan 21, 2020 |
| Tuberous sclerosis 1 | 1 | Jan 21, 2020 |
| Tuberous sclerosis 2 | 1 | Jan 21, 2020 |
| VAN ESCH-O''''DRISCOLL SYNDROME | 1 | Jan 21, 2020 |
| VPS16-associated disorder | 1 | Aug 10, 2020 |
| Very long chain acyl-CoA dehydrogenase deficiency | 1 | Jan 21, 2020 |
| Vici syndrome | 3 | Dec 18, 2017 |
| Visceral myopathy | 1 | Jan 21, 2020 |
| Vitamin B12-responsive methylmalonic acidemia type cblB | 1 | Jan 21, 2020 |
| Vitreoretinopathy, neovascular inflammatory | 1 | Aug 10, 2020 |
| Von Willebrand disease, recessive form | 1 | Aug 10, 2020 |
| Werner syndrome | 1 | Jan 21, 2020 |
| Wiedemann-Steiner syndrome | 3 | Aug 10, 2020 |
| Wilson disease | 2 | Jan 21, 2020 |
| Wolcott-Rallison dysplasia | 1 | Jan 21, 2020 |
| Wolfram syndrome 1 | 2 | Jan 21, 2020 |
| Wolfram-like syndrome, autosomal dominant | 1 | Jan 21, 2020 |
| X-linked hydrocephalus syndrome | 1 | Aug 10, 2020 |
| Xerocytosis | 1 | Aug 10, 2020 |
| Xia-Gibbs syndrome | 2 | Jan 21, 2020 |
| ZTTK syndrome | 1 | Jan 21, 2020 |
| Zimmermann-Laband syndrome 1 | 1 | Dec 18, 2017 |
| beta Thalassemia | 1 | Aug 10, 2020 |
| mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency | 2 | Dec 18, 2017 |
