3-Methylglutaconic aciduria type 2 | 2 | Jan 21, 2020 |
3-Methylglutaconic aciduria type 3 | 1 | Jan 21, 2020 |
3-hydroxy-3-methylglutaryl-CoA synthase deficiency | 2 | Dec 18, 2017 |
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 |
AFF3-associated disorder | 1 | Aug 10, 2020 |
AGO1-associated disorder | 1 | Aug 10, 2020 |
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome | 2 | Jan 21, 2020 |
ALDH18A1-related de Barsy syndrome | 2 | Jan 21, 2020 |
ATP5G3-associated disorder | 1 | Aug 10, 2020 |
Achondrogenesis type II | 1 | Dec 18, 2017 |
Acromesomelic dysplasia 1, Maroteaux type | 1 | Aug 10, 2020 |
Acromicric dysplasia | 1 | Dec 18, 2017 |
Actin accumulation myopathy | 2 | Jan 21, 2020 |
Action myoclonus-renal failure syndrome | 1 | Jan 21, 2020 |
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 |
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 |
Alternating hemiplegia of childhood 2 | 2 | Jan 21, 2020 |
Alveolar capillary dysplasia with pulmonary venous misalignment | 1 | Jan 28, 2020 |
Alzheimer disease 3 | 3 | Aug 10, 2020 |
Amelogenesis imperfecta, hypocalcification type | 1 | Dec 18, 2017 |
Amyotrophic lateral sclerosis type 1 | 1 | Jan 21, 2020 |
Amyotrophic lateral sclerosis type 10 | 1 | Jan 21, 2020 |
Amyotrophic lateral sclerosis type 6 | 1 | Jan 21, 2020 |
Anemia, nonspherocytic hemolytic, due to G6PD deficiency | 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 |
Arrhythmogenic cardiomyopathy with woolly hair and keratoderma | 1 | Jan 21, 2020 |
Arterial calcification, generalized, of infancy, 1 | 2 | Jan 21, 2020 |
Asphyxiating thoracic dystrophy 3 | 2 | Jan 21, 2020 |
Ataxia-telangiectasia syndrome | 10 | Jan 21, 2020 |
Ataxia-telangiectasia-like disorder 1 | 4 | Aug 10, 2020 |
Autism spectrum disorder due to AUTS2 deficiency | 3 | Jan 21, 2020 |
Autism, susceptibility to, 18 | 2 | Jan 21, 2020 |
Autism, susceptibility to, 5 | 2 | Jan 21, 2020 |
Autosomal dominant Parkinson disease 8 | 1 | Dec 18, 2017 |
Autosomal dominant Robinow syndrome 2 | 1 | Jan 21, 2020 |
Autosomal dominant cerebellar ataxia, deafness and narcolepsy | 2 | Aug 10, 2020 |
Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures | 1 | Jan 21, 2020 |
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures | 1 | Jan 21, 2020 |
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome | 1 | Jan 21, 2020 |
Autosomal dominant hypophosphatemic rickets | 2 | Oct 20, 2017 |
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome | 2 | Jan 21, 2020 |
Autosomal dominant medullary cystic kidney disease with hyperuricemia | 1 | Jan 21, 2020 |
Autosomal dominant nonsyndromic hearing loss 20 | 1 | Jan 21, 2020 |
Autosomal recessive Alport syndrome | 19 | Aug 10, 2020 |
Autosomal recessive DOPA responsive dystonia | 2 | Jan 21, 2020 |
Autosomal recessive ataxia due to ubiquinone deficiency | 3 | Jan 21, 2020 |
Autosomal recessive ataxia, Beauce type | 3 | 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 distal spinal muscular atrophy 1 | 1 | Jan 21, 2020 |
Autosomal recessive early-onset Parkinson disease 6 | 1 | Jan 21, 2020 |
Autosomal recessive hypophosphatemic bone disease | 12 | Oct 20, 2017 |
Autosomal recessive juvenile Parkinson disease 2 | 4 | Aug 10, 2020 |
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 limb-girdle muscular dystrophy type 2I | 2 | Jan 21, 2020 |
Autosomal recessive limb-girdle muscular dystrophy type 2L | 1 | Jan 21, 2020 |
Autosomal recessive limb-girdle muscular dystrophy type 2S | 1 | Dec 18, 2017 |
Autosomal recessive limb-girdle muscular dystrophy type 2T | 1 | Aug 10, 2020 |
Autosomal recessive nonsyndromic hearing loss 1A | 1 | Jan 21, 2020 |
Autosomal recessive osteopetrosis 4 | 1 | Jan 21, 2020 |
Autosomal recessive osteopetrosis 5 | 1 | Dec 18, 2017 |
Autosomal recessive polycystic kidney disease | 7 | Jan 21, 2020 |
Autosomal recessive spinocerebellar ataxia 10 | 2 | Aug 10, 2020 |
Autosomal recessive spinocerebellar ataxia 17 | 2 | Aug 10, 2020 |
Autosomal recessive spinocerebellar ataxia 18 | 1 | Dec 18, 2017 |
Avellino corneal dystrophy | 1 | Jan 21, 2020 |
Axial spondylometaphyseal dysplasia | 1 | Aug 10, 2020 |
Baraitser-Winter syndrome 1 | 4 | Aug 10, 2020 |
Baraitser-winter syndrome 2 | 1 | Jan 21, 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 |
Becker muscular dystrophy | 2 | Aug 10, 2020 |
Benign familial hematuria | 1 | Aug 10, 2020 |
Benign hereditary chorea | 1 | Jan 21, 2020 |
Benign scapuloperoneal muscular dystrophy with cardiomyopathy | 1 | Dec 18, 2017 |
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 syndrome | 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 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 |
CBL-related disorder | 1 | Jan 21, 2020 |
CHARGE association | 4 | Dec 18, 2017 |
CSDE1-associated disorder | 1 | Aug 10, 2020 |
Camptomelic dysplasia | 2 | Dec 18, 2017 |
Cardiac anomalies - developmental delay - facial dysmorphism syndrome | 2 | Jan 21, 2020 |
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 | 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 |
Cardiomyopathy, familial restrictive, 1 | 1 | Aug 10, 2020 |
Carnitine palmitoyl transferase II deficiency, severe infantile form | 1 | Aug 10, 2020 |
Cataract 9 multiple types | 1 | Jan 21, 2020 |
Central core myopathy | 1 | Jan 21, 2020 |
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 | 1 | Aug 10, 2020 |
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome | 2 | Aug 10, 2020 |
Cerebellar ataxia-hypogonadism syndrome | 1 | Jan 28, 2020 |
Cerebral calcification | 5 | Jun 26, 2018 |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive | 1 | Dec 18, 2017 |
Charcot-Marie-Tooth disease X-linked dominant 1 | 1 | Jan 21, 2020 |
Charcot-Marie-Tooth disease axonal type 2C | 1 | Jan 21, 2020 |
Charcot-Marie-Tooth disease axonal type 2Z | 1 | Jan 21, 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 1F | 1 | Aug 10, 2020 |
Charcot-Marie-Tooth disease type 2A2 | 1 | Jan 21, 2020 |
Charcot-Marie-Tooth disease type 2I | 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 apraxia of speech | 1 | Jan 21, 2020 |
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency | 2 | Dec 18, 2017 |
Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder | 1 | Aug 10, 2020 |
Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome | 9 | Dec 2, 2014 |
Chondrodysplasia punctata 2 X-linked dominant | 1 | Jan 21, 2020 |
Christianson syndrome | 1 | Jan 21, 2020 |
Chromosome 1p32-p31 deletion syndrome | 2 | Aug 10, 2020 |
Chromosome 2q32-q33 deletion syndrome | 3 | Jan 21, 2020 |
Ciliary dyskinesia, primary, 38 | 1 | 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 1 | 1 | Jan 21, 2020 |
Coenzyme Q10 deficiency, primary, 1 | 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 defect type 14 | 4 | Jan 28, 2020 |
Combined oxidative phosphorylation defect type 15 | 1 | Dec 18, 2017 |
Combined oxidative phosphorylation defect type 17 | 4 | Dec 18, 2017 |
Combined oxidative phosphorylation defect type 20 | 4 | Dec 18, 2017 |
Combined oxidative phosphorylation defect type 23 | 4 | Dec 18, 2017 |
Combined oxidative phosphorylation defect type 4 | 1 | Dec 18, 2017 |
Combined oxidative phosphorylation defect type 7 | 1 | Jan 28, 2020 |
Combined oxidative phosphorylation defect type 8 | 6 | Jan 21, 2020 |
Complex cortical dysplasia with other brain malformations 2 | 1 | Dec 18, 2017 |
Complex cortical dysplasia with other brain malformations 3 | 1 | Jan 21, 2020 |
Complex cortical dysplasia with other brain malformations 5 | 2 | Jan 21, 2020 |
Complex cortical dysplasia with other brain malformations 6 | 2 | Aug 10, 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 diarrhea 5 with tufting enteropathy | 1 | Dec 18, 2017 |
Congenital disorder of deglycosylation | 3 | 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 isolated adrenocorticotropic hormone deficiency | 2 | Jan 21, 2020 |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type | 1 | Dec 18, 2017 |
Congenital multicore myopathy with external ophthalmoplegia | 4 | Jan 21, 2020 |
Congenital muscular hypertrophy-cerebral syndrome | 2 | Jan 21, 2020 |
Congenital myasthenic syndrome 10 | 1 | Aug 10, 2020 |
Congenital myasthenic syndrome 16 | 2 | Jan 21, 2020 |
Congenital myasthenic syndrome 19 | 1 | Dec 18, 2017 |
Congenital myasthenic syndrome 4C | 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 |
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 |
Cystic fibrosis | 2 | Jan 21, 2020 |
Cytochrome-c oxidase deficiency disease | 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 |
DYRK1A-related intellectual disability syndrome | 2 | Aug 10, 2020 |
Danon disease | 1 | Jan 21, 2020 |
Deficiency of aromatic-L-amino-acid decarboxylase | 1 | Jan 21, 2020 |
Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema | 1 | Aug 10, 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 94 | 1 | Jan 21, 2020 |
Developmental and epileptic encephalopathy, 11 | 4 | Jan 21, 2020 |
Developmental and epileptic encephalopathy, 13 | 1 | Dec 18, 2017 |
Developmental and epileptic encephalopathy, 14 | 1 | Jan 21, 2020 |
Developmental and epileptic encephalopathy, 17 | 1 | Dec 18, 2017 |
Developmental and epileptic encephalopathy, 19 | 1 | Jan 21, 2020 |
Developmental and epileptic encephalopathy, 2 | 2 | Dec 18, 2017 |
Developmental and epileptic encephalopathy, 25 | 3 | Aug 10, 2020 |
Developmental and epileptic encephalopathy, 26 | 1 | Aug 10, 2020 |
Developmental and epileptic encephalopathy, 28 | 1 | Jan 28, 2020 |
Developmental and epileptic encephalopathy, 29 | 2 | Aug 10, 2020 |
Developmental and epileptic encephalopathy, 35 | 2 | Jan 21, 2020 |
Developmental and epileptic encephalopathy, 37 | 1 | Dec 18, 2017 |
Developmental and epileptic encephalopathy, 39 | 2 | Jan 28, 2020 |
Developmental and epileptic encephalopathy, 4 | 3 | Aug 10, 2020 |
Developmental and epileptic encephalopathy, 42 | 2 | Aug 10, 2020 |
Developmental and epileptic encephalopathy, 44 | 1 | Dec 18, 2017 |
Developmental and epileptic encephalopathy, 50 | 3 | Dec 18, 2017 |
Developmental and epileptic encephalopathy, 54 | 1 | Aug 10, 2020 |
Developmental and epileptic encephalopathy, 55 | 1 | 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, 7 | 2 | Dec 18, 2017 |
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 autism spectrum disorder and gait instability | 1 | Jan 28, 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 |
Diets-Jongmans syndrome | 1 | Aug 10, 2020 |
Dilated cardiomyopathy 1D | 1 | Jan 21, 2020 |
Dilated cardiomyopathy 1S | 2 | Jan 21, 2020 |
Dilated cardiomyopathy 3B | 1 | Dec 18, 2017 |
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, limb and orofacial, infantile-onset | 1 | Jan 21, 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-onset generalized limb-onset dystonia | 1 | Aug 10, 2020 |
Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome | 6 | Aug 10, 2020 |
Ectodermal dysplasia-syndactyly syndrome 1 | 1 | Jan 21, 2020 |
Ehlers-Danlos syndrome, kyphoscoliotic and deafness type | 1 | Jan 21, 2020 |
Ellis-van Creveld syndrome | 2 | Dec 18, 2017 |
Encephalopathy due to GLUT1 deficiency | 4 | Jan 21, 2020 |
Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 | 1 | Dec 18, 2017 |
Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities | 2 | Jan 21, 2020 |
Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome | 1 | Apr 21, 2015 |
Epilepsy, early-onset, with or without developmental delay | 1 | Aug 10, 2020 |
Epilepsy, idiopathic generalized, susceptibility to, 15 | 1 | Jan 21, 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 dyskinesia and facial myokymia | 4 | Jan 21, 2020 |
Familial hyperaldosteronism type II | 1 | Dec 22, 2017 |
Familial hypokalemia-hypomagnesemia | 1 | Dec 18, 2017 |
Familial juvenile hyperuricemic nephropathy type 1 | 2 | Jan 21, 2020 |
Familial steroid-resistant nephrotic syndrome with sensorineural deafness | 3 | Jan 21, 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 |
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 |
Glomuvenous malformation | 1 | Aug 10, 2020 |
Glucocorticoid deficiency 1 | 7 | Oct 20, 2017 |
Glucose-6-phosphate transport defect | 2 | Dec 18, 2017 |
Glutaric aciduria, type 1 | 3 | Aug 10, 2020 |
Glycogen storage disease IXa1 | 2 | Jan 21, 2020 |
Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency | 1 | Aug 10, 2020 |
Glycogen storage disease type III | 2 | Aug 10, 2020 |
Glycogen storage disease, type II | 1 | Dec 18, 2017 |
Glycogen storage disease, type V | 1 | Jan 21, 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 |
Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome | 2 | Dec 18, 2017 |
HIST1H4C-associated disorder | 1 | Aug 10, 2020 |
HSD10 mitochondrial disease | 2 | Jan 28, 2020 |
Harel-Yoon syndrome | 1 | Aug 10, 2020 |
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 | 2 | Jan 21, 2020 |
Hereditary factor VIII deficiency disease | 1 | Dec 18, 2017 |
Hereditary intrinsic factor deficiency | 1 | Jan 21, 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 11 | 2 | Jan 21, 2020 |
Hereditary spastic paraplegia 2 | 1 | Dec 18, 2017 |
Hereditary spastic paraplegia 30 | 2 | Jan 21, 2020 |
Hereditary spastic paraplegia 35 | 3 | Jan 21, 2020 |
Hereditary spastic paraplegia 39 | 2 | Jan 21, 2020 |
Hereditary spastic paraplegia 3A | 1 | Jan 21, 2020 |
Hereditary spastic paraplegia 4 | 7 | Jan 21, 2020 |
Hereditary spastic paraplegia 5A | 2 | Jan 21, 2020 |
Hereditary spastic paraplegia 7 | 3 | Jan 21, 2020 |
Hereditary spastic paraplegia 75 | 3 | Aug 10, 2020 |
Heterotaxy, visceral, 7, autosomal | 2 | Aug 10, 2020 |
Heterotopia, periventricular, X-linked dominant | 1 | Jan 21, 2020 |
Holoprosencephaly 3 | 1 | Aug 10, 2020 |
Holt-Oram syndrome | 1 | Dec 18, 2017 |
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency | 1 | Jan 28, 2020 |
Hypercholesterolemia, autosomal dominant, type B | 1 | Aug 10, 2020 |
Hypercholesterolemia, familial, 1 | 2 | Aug 10, 2020 |
Hyperekplexia 1 | 2 | Jan 21, 2020 |
Hyperinsulinemic hypoglycemia, familial, 1 | 1 | Jan 21, 2020 |
Hypertrichotic osteochondrodysplasia Cantu type | 1 | Aug 10, 2020 |
Hypertrophic cardiomyopathy 1 | 1 | Jan 21, 2020 |
Hypertrophic cardiomyopathy 4 | 1 | Jan 21, 2020 |
Hypertrophic cardiomyopathy 7 | 1 | Dec 18, 2017 |
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 intellectual disability 1 | 1 | Dec 18, 2017 |
Hypomyelinating leukodystrophy 6 | 3 | Jan 21, 2020 |
Hypophosphatemic rickets, autosomal recessive, 1 | 2 | Oct 20, 2017 |
Hypophosphatemic rickets, autosomal recessive, 2 | 4 | Oct 20, 2017 |
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 |
Imagawa-Matsumoto syndrome | 1 | Aug 10, 2020 |
Immunodeficiency, common variable, 10 | 1 | Jan 21, 2020 |
Immunoglobulin A deficiency 2 | 1 | Aug 10, 2020 |
Immunoglobulin-mediated membranoproliferative glomerulonephritis | 1 | Jan 21, 2020 |
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 102 | 4 | Aug 10, 2020 |
Intellectual disability, X-linked 107 | 1 | Aug 10, 2020 |
Intellectual disability, X-linked 21 | 1 | Jan 28, 2020 |
Intellectual disability, X-linked 49 | 1 | Jan 21, 2020 |
Intellectual disability, X-linked 99, syndromic, female-restricted | 1 | Dec 18, 2017 |
Intellectual disability, X-linked syndromic, Turner type | 2 | Jan 21, 2020 |
Intellectual disability, X-linked, syndromic, bain type | 2 | Jan 21, 2020 |
Intellectual disability, autosomal dominant 13 | 1 | Dec 18, 2017 |
Intellectual disability, autosomal dominant 15 | 1 | Dec 18, 2017 |
Intellectual disability, autosomal dominant 16 | 3 | Jan 21, 2020 |
Intellectual disability, autosomal dominant 20 | 1 | Dec 18, 2017 |
Intellectual disability, autosomal dominant 22 | 1 | Jan 21, 2020 |
Intellectual disability, autosomal dominant 27 | 1 | Jan 21, 2020 |
Intellectual disability, autosomal dominant 29 | 1 | Jan 21, 2020 |
Intellectual disability, autosomal dominant 30 | 1 | Jan 28, 2020 |
Intellectual disability, autosomal dominant 40 | 1 | Jan 21, 2020 |
Intellectual disability, autosomal dominant 41 | 2 | Aug 10, 2020 |
Intellectual disability, autosomal dominant 42 | 2 | Aug 10, 2020 |
Intellectual disability, autosomal dominant 5 | 1 | Jan 21, 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 57 | 1 | Jan 21, 2020 |
Intellectual disability, autosomal dominant 58 | 1 | Jan 21, 2020 |
Intellectual disability, autosomal dominant 6 | 1 | Jan 21, 2020 |
Intellectual disability, autosomal dominant 8 | 2 | Jan 21, 2020 |
Intellectual disability, autosomal dominant 9 | 1 | Jan 21, 2020 |
Intellectual disability, autosomal recessive 53 | 2 | Jan 21, 2020 |
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency | 3 | Aug 10, 2020 |
Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome | 2 | Aug 10, 2020 |
Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome | 1 | Jan 21, 2020 |
Intellectual disability-severe speech delay-mild dysmorphism syndrome | 1 | Jan 21, 2020 |
Interstitial pneumonitis | 5 | Jun 26, 2018 |
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 onset Parkinson disease 19A | 1 | Aug 10, 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 |
Keratosis follicularis | 1 | Jan 21, 2020 |
Kleefstra syndrome 1 | 1 | Aug 10, 2020 |
Kleefstra syndrome 2 | 1 | Jan 21, 2020 |
Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome | 1 | Jan 21, 2020 |
Lactic acidosis | 3 | Mar 5, 2019 |
Lamb-Shaffer syndrome | 1 | Jan 21, 2020 |
Landau-Kleffner syndrome | 2 | Aug 10, 2020 |
Laron-type isolated somatotropin defect | 1 | Jan 21, 2020 |
Left ventricular noncompaction 10 | 1 | Aug 10, 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 |
Leukoencephalopathy with mild cerebellar ataxia and white matter edema | 1 | Jan 28, 2020 |
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | 4 | Aug 10, 2020 |
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome | 2 | Dec 18, 2017 |
Lissencephaly due to TUBA1A mutation | 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 |
MOGS-CDG | 2 | Jan 21, 2020 |
MPDU1-CDG | 1 | Dec 18, 2017 |
MYH7-related skeletal myopathy | 2 | Dec 18, 2017 |
Macrocephalus | 1 | Dec 18, 2017 |
Macrocephaly-autism syndrome | 1 | Jan 21, 2020 |
Macrocephaly-developmental delay syndrome | 1 | Jan 21, 2020 |
Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome | 1 | Jan 21, 2020 |
Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome | 1 | Dec 18, 2017 |
Malan overgrowth syndrome | 1 | Aug 10, 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 |
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 intellectual disability | 2 | Jan 21, 2020 |
Microcephaly, seizures, and developmental delay | 2 | Jan 21, 2020 |
Microcephaly, short stature, and limb abnormalities | 2 | Dec 18, 2017 |
Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome | 1 | Dec 18, 2017 |
Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome | 4 | Dec 18, 2017 |
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome | 2 | Jan 21, 2020 |
Mitochondrial DNA deletion syndrome with progressive myopathy | 1 | Jan 21, 2020 |
Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive | 1 | Dec 18, 2017 |
Mitochondrial DNA depletion syndrome 13 | 7 | Aug 10, 2020 |
Mitochondrial DNA depletion syndrome 3 | 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 V (ATP synthase) deficiency nuclear type 2 | 3 | Jan 21, 2020 |
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency | 8 | 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 type 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 (congenital with intellectual disability), type B1 | 2 | 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 |
Nail-patella syndrome | 4 | Aug 10, 2020 |
Nemaline myopathy 10 | 1 | Jan 21, 2020 |
Nemaline myopathy 2 | 6 | Jan 28, 2020 |
Nemaline myopathy 8 | 1 | Jan 21, 2020 |
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome | 3 | Jan 21, 2020 |
Nephrotic syndrome, type 13 | 1 | Jan 21, 2020 |
Nephrotic syndrome, type 2 | 5 | Jan 21, 2020 |
Nephrotic syndrome, type 3 | 1 | Jan 28, 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 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 13 | 1 | Jan 21, 2020 |
Neuronal ceroid lipofuscinosis 2 | 2 | Dec 18, 2017 |
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 |
Nonprogressive cerebellar atxia with intellectual disability | 1 | Aug 10, 2020 |
Noonan syndrome 1 | 9 | Aug 10, 2020 |
Noonan syndrome 5 | 2 | Aug 10, 2020 |
Noonan syndrome 8 | 2 | Jan 21, 2020 |
Obesity due to prohormone convertase I deficiency | 2 | Jan 21, 2020 |
Oculocerebrofacial syndrome, Kaufman type | 2 | Dec 18, 2017 |
Oculopharyngeal muscular dystrophy | 1 | Jan 21, 2020 |
Odonto-onycho-dermal dysplasia | 1 | Jan 21, 2020 |
Ogden syndrome | 1 | Dec 18, 2017 |
Okur-Chung neurodevelopmental syndrome | 1 | Aug 10, 2020 |
Optic atrophy 10 with or without ataxia, intellectual disability, 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 |
Oto-palato-digital syndrome, type I | 1 | Jan 21, 2020 |
POU3F2-associated disorder | 1 | Aug 10, 2020 |
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome | 5 | Aug 10, 2020 |
Pachyonychia congenita 1 | 1 | Dec 18, 2017 |
Paramyotonia congenita of Von Eulenburg | 2 | Aug 10, 2020 |
Parkinson disease, late-onset | 3 | Jan 28, 2020 |
Parkinsonian-pyramidal syndrome | 2 | Dec 18, 2017 |
Parkinsonism-dystonia, infantile, 1 | 1 | Jan 21, 2020 |
Peroxisome biogenesis disorder 1A (Zellweger) | 3 | Dec 18, 2017 |
Phelan-McDermid syndrome | 1 | Jan 21, 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 |
Polycystic kidney disease, adult type | 3 | Jan 28, 2020 |
Polyglucosan body myopathy type 1 | 1 | Jan 21, 2020 |
Pontocerebellar hypoplasia type 1B | 1 | Dec 18, 2017 |
Pontocerebellar hypoplasia type 6 | 3 | Jan 21, 2020 |
Pontocerebellar hypoplasia type 9 | 1 | Dec 18, 2017 |
Porencephaly 2 | 1 | Jan 21, 2020 |
Primary ciliary dyskinesia 7 | 2 | Jan 21, 2020 |
Progressive demyelinating neuropathy with bilateral striatal necrosis | 1 | Dec 18, 2017 |
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 | 4 | Jan 21, 2020 |
Progressive myoclonic epilepsy type 7 | 1 | Dec 18, 2017 |
Progressive myositis ossificans | 1 | Jan 21, 2020 |
Progressive retinal dystrophy due to retinol transport defect | 1 | Aug 10, 2020 |
Prolidase deficiency | 2 | Jan 21, 2020 |
Proliferative vitreoretinopathy | 1 | Aug 10, 2020 |
Propionic acidemia | 3 | Mar 5, 2019 |
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 |
RFT1-CDG | 1 | Jan 21, 2020 |
Rapp-Hodgkin ectodermal dysplasia syndrome | 1 | Jan 21, 2020 |
Renal coloboma syndrome | 1 | Jan 21, 2020 |
Renal tubular dysgenesis | 1 | Jan 21, 2020 |
Renpenning syndrome | 1 | Jan 21, 2020 |
Respiratory distress | 5 | Sep 24, 2019 |
Rett syndrome | 7 | Aug 10, 2020 |
Rett syndrome, congenital variant | 4 | Aug 10, 2020 |
SETD1B-associated disorder | 1 | Aug 10, 2020 |
SPATA5L1-associated disorder | 7 | Aug 10, 2020 |
SSR4-CDG | 1 | Aug 10, 2020 |
Saldino-Mainzer syndrome | 2 | Jan 28, 2020 |
Seizures, benign familial infantile, 2 | 1 | Jan 21, 2020 |
Seizures, benign familial neonatal, 1 | 1 | Dec 18, 2017 |
Sengers syndrome | 2 | Dec 18, 2017 |
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | 5 | Jan 21, 2020 |
Severe X-linked myotubular myopathy | 2 | Jan 21, 2020 |
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome | 3 | Jan 21, 2020 |
Severe intellectual disability-progressive spastic diplegia syndrome | 2 | Jan 21, 2020 |
Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome | 1 | 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 |
Shwachman-Diamond syndrome 1 | 3 | Aug 10, 2020 |
Siddiqi syndrome | 1 | Aug 10, 2020 |
Sifrim-Hitz-Weiss syndrome | 1 | Aug 10, 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 |
Spastic paraplegia 52, autosomal recessive | 1 | Dec 18, 2017 |
Spastic paraplegia 82, autosomal recessive | 1 | Aug 10, 2020 |
Spermatogenic failure 31 | 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, 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, PAPSS2 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 |
Sterol carrier protein 2 deficiency | 1 | Dec 18, 2017 |
Stickler syndrome type 1 | 1 | Jan 21, 2020 |
Striatal degeneration, autosomal dominant 2 | 1 | Jan 21, 2020 |
Syndromic X-linked intellectual disability 14 | 2 | Jan 21, 2020 |
Syndromic X-linked intellectual disability 34 | 1 | Jan 21, 2020 |
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome | 1 | Aug 10, 2020 |
Tay-Sachs disease | 2 | Dec 18, 2017 |
Telangiectasia, hereditary hemorrhagic, type 1 | 2 | Aug 10, 2020 |
Tetralogy of Fallot | 1 | Dec 18, 2017 |
Thanatophoric dysplasia type 1 | 1 | Aug 10, 2020 |
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 |
Tumoral calcinosis, hyperphosphatemic, familial, 1 | 3 | Oct 20, 2017 |
VPS16-associated disorder | 1 | Aug 10, 2020 |
Vanishing white matter disease | 2 | Jan 21, 2020 |
Vascular dilatation | 5 | Jun 26, 2018 |
Vasculitis due to ADA2 deficiency | 3 | 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 |
Werner syndrome | 1 | Jan 21, 2020 |
Wieacker-Wolff 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 | 1 | Jan 21, 2020 |
X-linked Alport syndrome | 36 | Aug 10, 2020 |
X-linked central congenital hypothyroidism with late-onset testicular enlargement | 1 | Jan 21, 2020 |
X-linked hydrocephalus syndrome | 1 | Aug 10, 2020 |
X-linked intellectual disability, Cantagrel type | 1 | Aug 10, 2020 |
X-linked intellectual disability, van Esch type | 1 | Jan 21, 2020 |
X-linked intellectual disability-short stature-overweight syndrome | 1 | Jan 21, 2020 |
ZTTK syndrome | 1 | Jan 21, 2020 |
Zimmermann-Laband syndrome 1 | 1 | Dec 18, 2017 |
beta Thalassemia | 1 | Aug 10, 2020 |
von Willebrand disease type 3 | 1 | Aug 10, 2020 |