15q11q13 microduplication syndrome | 1 | Aug 29, 2022 |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome | 1 | May 3, 2023 |
3-methylglutaconic aciduria, type VIIB | 2 | May 4, 2022 |
3p- syndrome | 1 | Aug 29, 2022 |
46,XY sex reversal 3 | 1 | May 22, 2024 |
ABCA4-related retinopathy | 3 | Jan 27, 2023 |
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome | 2 | Jan 27, 2023 |
ALG1-congenital disorder of glycosylation | 2 | Oct 3, 2019 |
ALG3-congenital disorder of glycosylation | 1 | May 3, 2023 |
Aarskog syndrome | 1 | Mar 13, 2024 |
Abducens nerve palsy | 1 | Mar 13, 2024 |
Abnormal retinal morphology | 1 | Mar 10, 2020 |
Abnormality of the outer ear | 1 | Mar 6, 2019 |
Acatalasia | 1 | Mar 10, 2020 |
Achromatopsia 2 | 1 | Mar 10, 2020 |
Acquired partial lipodystrophy | 1 | Mar 10, 2020 |
Actin accumulation myopathy | 3 | Jan 27, 2023 |
Adrenoleukodystrophy | 1 | Oct 3, 2019 |
Adult polyglucosan body disease | 6 | Feb 11, 2022 |
Agenesis of the corpus callosum with peripheral neuropathy | 3 | Jan 27, 2023 |
Aicardi-Goutieres syndrome 1 | 2 | May 3, 2023 |
Aicardi-Goutieres syndrome 2 | 1 | Nov 21, 2018 |
Aicardi-Goutieres syndrome 5 | 1 | Oct 3, 2019 |
Aicardi-Goutieres syndrome 7 | 1 | Jun 27, 2018 |
Al Kaissi syndrome | 1 | Oct 3, 2019 |
Allan-Herndon-Dudley syndrome | 1 | Oct 3, 2019 |
Alport syndrome | 1 | May 3, 2023 |
Alstrom syndrome | 4 | May 4, 2022 |
Alveolar capillary dysplasia with pulmonary venous misalignment | 1 | Jan 27, 2023 |
Amyotrophic lateral sclerosis type 2, juvenile | 1 | May 3, 2023 |
Amyotrophic lateral sclerosis type 22 | 2 | Mar 13, 2024 |
Androgen resistance syndrome | 1 | Mar 10, 2020 |
Anemia, congenital dyserythropoietic, type 1a | 1 | May 4, 2022 |
Anemia, nonspherocytic hemolytic, due to G6PD deficiency | 2 | Mar 10, 2020 |
Angelman syndrome | 3 | Sep 11, 2023 |
Angiokeratoma corporis diffusum | 29 | Aug 5, 2024 |
Argininosuccinate lyase deficiency | 1 | Mar 10, 2020 |
Arrhythmogenic right ventricular dysplasia 9 | 1 | Jan 27, 2023 |
Arterial calcification, generalized, of infancy, 1 | 1 | Mar 10, 2020 |
Arthrogryposis multiplex congenita 5 | 1 | May 3, 2023 |
Arthrogryposis, distal, type 1A | 1 | Dec 21, 2023 |
Arthrogryposis, distal, with impaired proprioception and touch | 1 | Jan 27, 2023 |
Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome | 1 | Mar 13, 2024 |
Arts syndrome | 1 | Nov 21, 2018 |
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome | 1 | Jan 27, 2023 |
Ataxia-pancytopenia syndrome | 1 | Oct 3, 2019 |
Ataxia-telangiectasia syndrome | 2 | Sep 11, 2023 |
Au-Kline syndrome | 3 | Mar 13, 2024 |
Auriculocondylar syndrome 2 | 1 | Sep 26, 2018 |
Autism | 3 | Dec 21, 2023 |
Autism, susceptibility to, X-linked 2 | 1 | May 3, 2023 |
Autosomal dominant Parkinson disease 8 | 1 | Mar 10, 2020 |
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) | 1 | Sep 26, 2018 |
Autosomal dominant nocturnal frontal lobe epilepsy 3 | 1 | Mar 10, 2020 |
Autosomal dominant nonsyndromic hearing loss 6 | 1 | Mar 10, 2020 |
Autosomal recessive ataxia due to ubiquinone deficiency | 1 | Nov 9, 2023 |
Autosomal recessive cerebellar ataxia | 1 | May 3, 2023 |
Autosomal recessive congenital ichthyosis 1 | 1 | Mar 10, 2020 |
Autosomal recessive distal spinal muscular atrophy 1 | 3 | May 3, 2023 |
Autosomal recessive juvenile Parkinson disease 2 | 2 | Mar 10, 2020 |
Autosomal recessive limb-girdle muscular dystrophy | 5 | Feb 22, 2024 |
Autosomal recessive limb-girdle muscular dystrophy type 2A | 30 | Apr 11, 2024 |
Autosomal recessive limb-girdle muscular dystrophy type 2B | 26 | Sep 11, 2023 |
Autosomal recessive limb-girdle muscular dystrophy type 2C | 5 | Sep 11, 2023 |
Autosomal recessive limb-girdle muscular dystrophy type 2D | 6 | Sep 11, 2023 |
Autosomal recessive limb-girdle muscular dystrophy type 2E | 2 | Oct 3, 2019 |
Autosomal recessive limb-girdle muscular dystrophy type 2G | 1 | Oct 3, 2019 |
Autosomal recessive limb-girdle muscular dystrophy type 2I | 1 | Oct 3, 2019 |
Autosomal recessive limb-girdle muscular dystrophy type 2J | 20 | May 3, 2023 |
Autosomal recessive limb-girdle muscular dystrophy type 2L | 8 | Oct 3, 2019 |
Autosomal recessive limb-girdle muscular dystrophy type 2N | 3 | May 3, 2023 |
Autosomal recessive limb-girdle muscular dystrophy type 2O | 1 | Oct 3, 2019 |
Autosomal recessive limb-girdle muscular dystrophy type 2U | 1 | Oct 3, 2019 |
Autosomal recessive nonsyndromic hearing loss 9 | 1 | Mar 10, 2020 |
Autosomal recessive osteopetrosis 1 | 1 | Jan 27, 2023 |
Autosomal recessive polycystic kidney disease | 5 | May 3, 2023 |
Autosomal recessive primary microcephaly | 1 | May 3, 2023 |
Autosomal recessive spinocerebellar ataxia 14 | 1 | Jan 27, 2023 |
Autosomal recessive spinocerebellar ataxia 17 | 1 | Oct 3, 2019 |
Autosomal recessive spinocerebellar ataxia 18 | 1 | Sep 11, 2023 |
Autosomal recessive spinocerebellar ataxia 20 | 4 | May 3, 2023 |
Autosomal recessive spinocerebellar ataxia 7 | 1 | Jan 27, 2023 |
Bailey-Bloch congenital myopathy | 3 | Mar 10, 2020 |
Baraitser-Winter syndrome 1 | 1 | May 4, 2022 |
Bardet-Biedl syndrome | 1 | Jul 1, 2017 |
Bardet-Biedl syndrome 1 | 1 | May 4, 2022 |
Bardet-Biedl syndrome 12 | 1 | May 3, 2023 |
Bardet-Biedl syndrome 16 | 3 | Mar 10, 2020 |
Bardet-Biedl syndrome 2 | 2 | Sep 26, 2018 |
Bardet-Biedl syndrome 4 | 2 | May 4, 2022 |
Bardet-Biedl syndrome 5 | 1 | Sep 26, 2018 |
Basilicata-Akhtar syndrome | 1 | Sep 11, 2023 |
Beta-hydroxyisobutyryl-CoA deacylase deficiency | 1 | Nov 21, 2018 |
Bethlem myopathy 1A | 6 | Sep 11, 2023 |
Bethlem myopathy 2 | 2 | May 3, 2023 |
Bilateral frontoparietal polymicrogyria | 4 | Jan 27, 2023 |
Biotin-responsive basal ganglia disease | 1 | Sep 26, 2018 |
Biotinidase deficiency | 1 | Mar 10, 2020 |
Blepharocheilodontic syndrome 2 | 1 | Jan 27, 2023 |
Blepharophimosis - intellectual disability syndrome | 1 | May 3, 2023 |
Blepharophimosis, ptosis, and epicanthus inversus syndrome | 1 | Mar 13, 2024 |
Bloom syndrome | 1 | Oct 3, 2019 |
Bone marrow failure syndrome 3 | 1 | Oct 3, 2019 |
Bone marrow failure syndrome 5 | 1 | Jan 27, 2023 |
Bosch-Boonstra-Schaaf optic atrophy syndrome | 2 | Jun 20, 2024 |
Bradyopsia | 1 | Sep 26, 2018 |
Brain malformations with or without urinary tract defects | 3 | Sep 11, 2023 |
Brain small vessel disease 1 with or without ocular anomalies | 3 | May 4, 2022 |
Breast-ovarian cancer, familial, susceptibility to, 2 | 3 | Mar 9, 2020 |
Brown syndrome | 4 | Mar 13, 2024 |
CDKL5 disorder | 1 | Nov 9, 2023 |
CEP290-related ciliopathy | 1 | Jan 27, 2023 |
CHARGE syndrome | 5 | Mar 13, 2024 |
CODAS syndrome | 2 | Oct 3, 2019 |
COG5-congenital disorder of glycosylation | 3 | Nov 17, 2020 |
Capillary malformation-arteriovenous malformation 1 | 1 | Mar 10, 2020 |
Cataract | 1 | Jun 20, 2024 |
Cataract 18 | 1 | May 3, 2023 |
Cataract 2, multiple types | 1 | Mar 10, 2020 |
Cayman type cerebellar ataxia | 1 | Jan 27, 2023 |
Central core myopathy | 13 | May 3, 2023 |
Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease | 1 | Mar 13, 2024 |
Cerebellar ataxia | 2 | Dec 21, 2023 |
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 | 2 | Oct 3, 2019 |
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 | 3 | Sep 11, 2023 |
Cerebellar atrophy, visual impairment, and psychomotor retardation; | 2 | May 3, 2023 |
Cerebral atrophy | 1 | Oct 5, 2020 |
Cerebral creatine deficiency syndrome | 28 | Sep 13, 2022 |
Cerebral folate transport deficiency | 2 | Jan 27, 2023 |
Cerebral hypomyelination | 2 | May 29, 2020 |
Ceroid lipofuscinosis, neuronal, 6A | 4 | Jan 27, 2023 |
Ceroid lipofuscinosis, neuronal, 6B (Kufs type) | 1 | Mar 10, 2020 |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive | 1 | Mar 10, 2020 |
Charcot-Marie-Tooth disease axonal type 2C | 1 | Mar 10, 2020 |
Charcot-Marie-Tooth disease axonal type 2X | 1 | Jan 27, 2023 |
Charcot-Marie-Tooth disease recessive intermediate A | 1 | May 3, 2023 |
Charcot-Marie-Tooth disease type 2R | 1 | May 3, 2023 |
Charcot-Marie-Tooth disease type 4C | 2 | May 3, 2023 |
Charlevoix-Saguenay spastic ataxia | 3 | Nov 13, 2023 |
Childhood onset GLUT1 deficiency syndrome 2 | 1 | May 4, 2022 |
Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder | 1 | May 29, 2020 |
Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome | 1 | Jan 27, 2023 |
Cholestanol storage disease | 1 | Mar 10, 2020 |
Chorea | 2 | Jun 1, 2020 |
Chromosome 13q33-q34 deletion syndrome | 1 | Sep 11, 2023 |
Chromosome 15q13.3 microdeletion syndrome | 1 | Aug 29, 2022 |
Chromosome 16p11.2 duplication syndrome | 1 | Aug 29, 2022 |
Chromosome 17p13.3 duplication syndrome | 1 | Sep 11, 2023 |
Chromosome 17q12 deletion syndrome | 1 | Sep 11, 2023 |
Chromosome 22q11.2 deletion syndrome, distal | 1 | May 22, 2023 |
Chromosome 22q11.2 microduplication syndrome | 1 | May 22, 2023 |
Chromosome 22q13 duplication syndrome | 1 | Aug 29, 2022 |
Chromosome 3q13.31 deletion syndrome | 1 | Sep 11, 2023 |
Chromosome 4q21 deletion syndrome | 1 | Sep 11, 2023 |
Chédiak-Higashi syndrome | 2 | Oct 3, 2019 |
Ciliopathy | 2 | Mar 13, 2024 |
Cobblestone lissencephaly without muscular or ocular involvement | 2 | May 3, 2023 |
Coenzyme Q10 deficiency, primary, 1 | 2 | May 3, 2023 |
Coffin-Siris syndrome | 3 | May 22, 2024 |
Coffin-Siris syndrome 1 | 12 | Nov 9, 2023 |
Cohen syndrome | 8 | May 3, 2023 |
Collagen 6-related myopathy | 1 | May 3, 2023 |
Combined PSAP deficiency | 1 | Jul 1, 2017 |
Combined oxidative phosphorylation defect type 13 | 2 | Jun 27, 2018 |
Combined oxidative phosphorylation deficiency 35 | 1 | May 4, 2022 |
Complex I deficiency | 1 | Mar 10, 2020 |
Complex cortical dysplasia with other brain malformations 4 | 4 | May 22, 2024 |
Complex cortical dysplasia with other brain malformations 5 | 2 | May 22, 2024 |
Complex cortical dysplasia with other brain malformations 6 | 1 | May 3, 2023 |
Complex cortical dysplasia with other brain malformations 7 | 6 | May 22, 2024 |
Complex neurodevelopmental disorder | 1 | May 29, 2020 |
Cone dystrophy 4 | 3 | May 3, 2023 |
Cone-rod dystrophy 12 | 4 | May 3, 2023 |
Cone-rod dystrophy 13 | 1 | Sep 11, 2023 |
Cone-rod dystrophy 15 | 6 | May 3, 2023 |
Cone-rod dystrophy 16 | 1 | May 4, 2022 |
Cone-rod dystrophy 2 | 3 | Sep 11, 2023 |
Cone-rod dystrophy 20 | 1 | Jun 27, 2018 |
Cone-rod dystrophy 3 | 4 | Oct 3, 2019 |
Cone-rod dystrophy and hearing loss | 1 | May 3, 2023 |
Cone-rod dystrophy and hearing loss 1 | 1 | Sep 11, 2023 |
Congenital anomalies of kidney and urinary tract 1 | 1 | May 29, 2020 |
Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay | 1 | May 3, 2023 |
Congenital anomaly of kidney and urinary tract | 3 | May 29, 2020 |
Congenital diarrhea 5 with tufting enteropathy | 1 | Nov 21, 2018 |
Congenital disorder of deglycosylation 1 | 1 | Sep 11, 2023 |
Congenital disorder of glycosylation | 1 | May 4, 2022 |
Congenital disorder of glycosylation type I | 1 | May 3, 2023 |
Congenital fibrosis of extraocular muscles | 9 | Mar 13, 2024 |
Congenital fibrosis of extraocular muscles type 1 | 1 | Mar 13, 2024 |
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder | 2 | Mar 13, 2024 |
Congenital hydrocephalus | 1 | Jan 27, 2023 |
Congenital hyperammonemia, type I | 1 | Mar 10, 2020 |
Congenital hypoplastic anemia | 4 | May 22, 2024 |
Congenital isolated hyperinsulinism | 1 | Aug 16, 2023 |
Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome | 8 | Nov 13, 2023 |
Congenital multicore myopathy with external ophthalmoplegia | 1 | Jan 27, 2023 |
Congenital muscular dystrophy due to LMNA mutation | 1 | Sep 26, 2018 |
Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome | 1 | May 29, 2020 |
Congenital muscular hypertrophy-cerebral syndrome | 1 | May 3, 2023 |
Congenital myasthenic syndrome 10 | 1 | Nov 9, 2023 |
Congenital myasthenic syndrome 11 | 2 | May 22, 2024 |
Congenital myasthenic syndrome 12 | 1 | May 3, 2023 |
Congenital myasthenic syndrome 19 | 4 | May 3, 2023 |
Congenital myasthenic syndrome 21 | 1 | May 29, 2020 |
Congenital myasthenic syndrome 2C | 1 | Sep 11, 2023 |
Congenital myasthenic syndrome 3A | 1 | May 4, 2022 |
Congenital myasthenic syndrome 3B | 2 | May 4, 2022 |
Congenital myasthenic syndrome 3C | 1 | May 4, 2022 |
Congenital myasthenic syndrome 4A | 1 | May 4, 2022 |
Congenital myasthenic syndrome 5 | 5 | Sep 11, 2023 |
Congenital myopathy | 7 | Jun 20, 2024 |
Congenital myopathy 11 | 1 | Jun 20, 2024 |
Congenital myopathy with fiber type disproportion | 2 | May 3, 2023 |
Congenital myotonia, autosomal dominant form | 1 | May 4, 2022 |
Congenital myotonia, autosomal recessive form | 2 | May 3, 2023 |
Congenital nephrotic syndrome | 1 | Jun 20, 2024 |
Congenital nonprogressive myopathy with Moebius and Robin sequences | 3 | Nov 17, 2020 |
Congenital omphalocele | 1 | Nov 17, 2020 |
Congenital short bowel syndrome, autosomal recessive | 1 | Jan 27, 2023 |
Congenital stationary night blindness 1C | 1 | Sep 26, 2018 |
Cornelia de Lange syndrome 5 | 1 | May 3, 2023 |
Corpus callosum, agenesis of | 1 | May 29, 2020 |
Cortical dysplasia-focal epilepsy syndrome | 1 | Sep 11, 2023 |
Cortisone reductase deficiency 2 | 1 | Mar 10, 2020 |
Coxopodopatellar syndrome | 1 | May 3, 2023 |
Craniofrontonasal syndrome | 2 | May 3, 2023 |
Creatine transporter deficiency | 2 | May 3, 2023 |
Cutis laxa with osteodystrophy | 2 | Jan 27, 2023 |
Cystic fibrosis | 1 | Mar 10, 2020 |
Cystic leukoencephalopathy without megalencephaly | 1 | Oct 3, 2019 |
DYRK1A-related intellectual disability syndrome | 2 | Mar 13, 2024 |
Deficiency of aromatic-L-amino-acid decarboxylase | 1 | Nov 21, 2018 |
Deficiency of isobutyryl-CoA dehydrogenase | 1 | Mar 10, 2020 |
Deletion of long arm of chromosome 18 | 1 | Aug 29, 2022 |
Deletion of short arm of chromosome 18 | 1 | Sep 11, 2023 |
Dent disease type 2 | 2 | May 3, 2023 |
Desmin-related myofibrillar myopathy | 2 | Sep 11, 2023 |
Developmental and epileptic encephalopathy 94 | 1 | Jan 27, 2023 |
Developmental and epileptic encephalopathy, 1 | 1 | Sep 26, 2018 |
Developmental and epileptic encephalopathy, 11 | 2 | Jan 27, 2023 |
Developmental and epileptic encephalopathy, 12 | 1 | Oct 3, 2019 |
Developmental and epileptic encephalopathy, 18 | 2 | Oct 7, 2022 |
Developmental and epileptic encephalopathy, 19 | 1 | May 3, 2023 |
Developmental and epileptic encephalopathy, 2 | 1 | May 4, 2022 |
Developmental and epileptic encephalopathy, 25 | 16 | Sep 11, 2023 |
Developmental and epileptic encephalopathy, 26 | 2 | May 22, 2024 |
Developmental and epileptic encephalopathy, 28 | 5 | Sep 11, 2023 |
Developmental and epileptic encephalopathy, 3 | 1 | May 3, 2023 |
Developmental and epileptic encephalopathy, 31A | 1 | May 3, 2023 |
Developmental and epileptic encephalopathy, 35 | 1 | May 3, 2023 |
Developmental and epileptic encephalopathy, 39 | 1 | Sep 11, 2023 |
Developmental and epileptic encephalopathy, 42 | 2 | Jan 27, 2023 |
Developmental and epileptic encephalopathy, 44 | 2 | Jun 27, 2018 |
Developmental and epileptic encephalopathy, 48 | 2 | May 4, 2022 |
Developmental and epileptic encephalopathy, 54 | 1 | May 29, 2020 |
Developmental and epileptic encephalopathy, 65 | 1 | May 29, 2020 |
Developmental and epileptic encephalopathy, 9 | 1 | Nov 21, 2018 |
Developmental delay with or without dysmorphic facies and autism | 1 | May 3, 2023 |
Developmental delay with or without intellectual impairment or behavioral abnormalities | 1 | Sep 11, 2023 |
Developmental regression | 1 | Mar 11, 2020 |
Dextrocardia | 1 | May 29, 2020 |
DiGeorge syndrome | 1 | Sep 11, 2023 |
Diamond-Blackfan anemia 1 | 2 | Jan 27, 2023 |
Diamond-Blackfan anemia 10 | 3 | May 3, 2023 |
Diamond-Blackfan anemia 13 | 1 | Oct 3, 2019 |
Diamond-Blackfan anemia 4 | 1 | Sep 11, 2023 |
Diamond-Blackfan anemia 5 | 1 | Sep 11, 2023 |
Diamond-Blackfan anemia 7 | 1 | May 4, 2022 |
Diamond-Blackfan anemia 8 | 2 | May 3, 2023 |
Dias-Logan syndrome | 1 | May 3, 2023 |
Diastrophic dysplasia | 2 | Mar 10, 2020 |
Diencephalic-mesencephalic junction dysplasia | 2 | May 29, 2020 |
Diencephalic-mesencephalic junction dysplasia syndrome 1 | 1 | May 3, 2023 |
Dihydropteridine reductase deficiency | 2 | May 3, 2023 |
Dilated cardiomyopathy 1G | 1 | Sep 11, 2023 |
Dilated cardiomyopathy 1I | 1 | Mar 10, 2020 |
Dilated cardiomyopathy 1KK | 1 | Mar 10, 2020 |
Distal arthrogryposis type 5D | 1 | Mar 13, 2024 |
Distal myopathy with posterior leg and anterior hand involvement | 2 | May 3, 2023 |
Dominant beta-thalassemia | 1 | Jan 27, 2023 |
Dopa-responsive dystonia due to sepiapterin reductase deficiency | 1 | Sep 26, 2018 |
Duane anomaly | 17 | Mar 13, 2024 |
Duane retraction syndrome 2 | 2 | Mar 13, 2024 |
Duane syndrome type 1 | 1 | Mar 13, 2024 |
Duane-radial ray syndrome | 1 | Mar 13, 2024 |
Duchenne and Becker muscular dystrophy | 3 | May 3, 2023 |
Duchenne muscular dystrophy | 11 | Nov 13, 2023 |
Dystonia 5 | 1 | Mar 13, 2024 |
EAST syndrome | 1 | Jan 27, 2023 |
Early infantile epileptic encephalopathy with suppression bursts | 2 | May 29, 2020 |
Early myoclonic encephalopathy | 1 | Oct 3, 2019 |
Early-onset myopathy with fatal cardiomyopathy | 8 | May 3, 2023 |
Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome | 6 | May 3, 2023 |
Ehlers-Danlos syndrome, kyphoscoliotic type 1 | 2 | May 3, 2023 |
Ehlers-Danlos syndrome, kyphoscoliotic type, 2 | 2 | Jan 27, 2023 |
Eichsfeld type congenital muscular dystrophy | 42 | Jan 27, 2023 |
Elliptocytosis 2 | 1 | Oct 3, 2019 |
Emery-Dreifuss muscular dystrophy 2, autosomal dominant | 1 | Oct 3, 2019 |
Encephalopathy due to GLUT1 deficiency | 1 | Sep 26, 2018 |
Epidermolysis bullosa simplex, Ogna type | 1 | Mar 10, 2020 |
Epilepsy, idiopathic generalized, susceptibility to, 14 | 1 | Mar 10, 2020 |
Epileptic encephalopathy, infantile or early childhood | 1 | May 3, 2023 |
Exudative vitreoretinopathy 1 | 1 | Mar 10, 2020 |
FOXG1 disorder | 1 | Mar 13, 2024 |
Facial palsy, congenital, with ptosis and velopharyngeal dysfunction | 2 | Mar 13, 2024 |
Facial paresis, hereditary congenital, 3 | 1 | Sep 26, 2018 |
Familial Mediterranean fever, autosomal dominant | 1 | Jul 1, 2017 |
Familial hemophagocytic lymphohistiocytosis 2 | 1 | Mar 10, 2020 |
Familial hypercholesterolemia | 28 | Sep 4, 2024 |
Familial hypobetalipoproteinemia 1 | 3 | Mar 9, 2020 |
Familial hypokalemia-hypomagnesemia | 5 | May 3, 2023 |
Familial infantile myasthenia | 2 | May 4, 2022 |
Familial isolated congenital asplenia | 1 | Jan 27, 2023 |
Familial juvenile hyperuricemic nephropathy type 1 | 1 | Jan 27, 2023 |
Familial partial lipodystrophy | 2 | Mar 9, 2020 |
Familial visceral amyloidosis, Ostertag type | 1 | Mar 10, 2020 |
Fanconi anemia complementation group A | 4 | Sep 11, 2023 |
Fetal akinesia deformation sequence 1 | 1 | May 3, 2023 |
Fetal akinesia deformation sequence 2 | 1 | May 22, 2024 |
Fetal and neonatal alloimmune thrombocytopenia | 1 | Mar 10, 2020 |
Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement | 1 | Mar 13, 2024 |
Fibrosis of extraocular muscles, congenital, 3b | 1 | Mar 13, 2024 |
Finnish congenital nephrotic syndrome | 11 | Sep 11, 2023 |
Floating-Harbor syndrome | 2 | Jan 27, 2023 |
Focal dermal hypoplasia | 1 | Oct 3, 2019 |
Focal segmental glomerulosclerosis 7 | 2 | Jan 27, 2023 |
Fucosidosis | 1 | Nov 21, 2018 |
Fucosyltransferase 6 deficiency | 4 | Mar 10, 2020 |
GUCY2D retinopathy | 1 | Jan 27, 2023 |
Galactosylceramide beta-galactosidase deficiency | 3 | Mar 10, 2020 |
Galloway-Mowat syndrome | 2 | May 22, 2024 |
Galloway-Mowat syndrome 1 | 2 | Mar 10, 2020 |
Gaucher disease | 37 | Mar 9, 2020 |
Gaucher disease type I | 8 | Mar 9, 2020 |
Geleophysic dysplasia 1 | 1 | May 3, 2023 |
Genitopatellar syndrome | 3 | Jan 27, 2023 |
Giant axonal neuropathy 1 | 1 | May 3, 2023 |
Global developmental delay | 3 | Jun 1, 2020 |
Glycogen storage disease IXb | 1 | Mar 10, 2020 |
Glycogen storage disease type III | 1 | Nov 9, 2023 |
Glycogen storage disease, type II | 212 | Jan 27, 2023 |
Glycogen storage disease, type IV | 41 | Jul 17, 2024 |
Glycogen storage disorder due to hepatic glycogen synthase deficiency | 1 | Jan 27, 2023 |
Glycoprotein storage disease | 1 | Mar 9, 2020 |
Goldberg-Shprintzen syndrome | 2 | Mar 13, 2024 |
Gray platelet syndrome | 1 | May 3, 2023 |
Greig cephalopolysyndactyly syndrome | 1 | May 3, 2023 |
Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy | 1 | May 3, 2023 |
Hao-Fountain syndrome | 1 | Jan 27, 2023 |
Harderoporphyria | 1 | Jan 27, 2023 |
Harel-Yoon syndrome | 1 | May 4, 2022 |
Hemiparkinsonism-hemiatrophy syndrome | 1 | Nov 17, 2020 |
Hepatocellular carcinoma | 1 | Mar 10, 2020 |
Hereditary North American Indian childhood cirrhosis | 1 | Mar 10, 2020 |
Hereditary factor VIII deficiency disease | 1 | Mar 10, 2020 |
Hereditary fructosuria | 1 | Sep 11, 2023 |
Hereditary hyperferritinemia with congenital cataracts | 1 | May 3, 2023 |
Hereditary insensitivity to pain with anhidrosis | 1 | Jan 27, 2023 |
Hereditary spastic paraplegia | 1 | Jun 20, 2024 |
Hereditary spastic paraplegia 11 | 8 | Jan 27, 2023 |
Hereditary spastic paraplegia 26 | 1 | Nov 21, 2018 |
Hereditary spastic paraplegia 4 | 1 | May 3, 2023 |
Hereditary spastic paraplegia 50 | 1 | Dec 21, 2023 |
Hereditary spastic paraplegia 51 | 3 | Sep 11, 2023 |
Hereditary spastic paraplegia 56 | 2 | May 3, 2023 |
Hereditary spastic paraplegia 5A | 2 | Nov 21, 2018 |
Hereditary spastic paraplegia 62 | 1 | May 3, 2023 |
Hereditary spherocytosis type 1 | 1 | Mar 10, 2020 |
Hereditary spherocytosis type 2 | 4 | Jan 27, 2023 |
Hereditary spherocytosis type 4 | 1 | Mar 10, 2020 |
Hereditary xanthinuria type 1 | 1 | Mar 10, 2020 |
Hermansky-Pudlak syndrome | 30 | Feb 11, 2022 |
Hermansky-Pudlak syndrome 4 | 9 | Jan 27, 2023 |
Hirschsprung disease, susceptibility to, 4 | 1 | Mar 10, 2020 |
Holoprosencephaly 3 | 1 | Sep 11, 2023 |
Holoprosencephaly 5 | 1 | Sep 11, 2023 |
Holoprosencephaly 9 | 1 | Mar 10, 2020 |
Houge-Janssens syndrome 2 | 1 | May 22, 2024 |
Hyperalphalipoproteinemia 1 | 1 | Mar 10, 2020 |
Hypercholesterolemia, autosomal dominant, 3 | 1 | Mar 9, 2020 |
Hypercholesterolemia, autosomal dominant, type B | 3 | Mar 9, 2020 |
Hypercholesterolemia, familial, 1 | 39 | Sep 4, 2024 |
Hyperekplexia 1 | 2 | May 3, 2023 |
Hyperekplexia 3 | 1 | Mar 10, 2020 |
Hyperinsulinemic hypoglycemia, familial, 1 | 99 | Aug 16, 2023 |
Hyperinsulinemic hypoglycemia, familial, 4 | 9 | Nov 2, 2021 |
Hyperlipidemia, familial combined, LPL related | 4 | Aug 5, 2024 |
Hypermanganesemia with dystonia 2 | 1 | Nov 17, 2020 |
Hyperphenylalaninemia due to DNAJC12 deficiency | 1 | Jan 27, 2023 |
Hyperphosphatasia with intellectual disability syndrome 4 | 1 | Nov 21, 2018 |
Hypertelorism and tetralogy of fallot | 1 | Nov 17, 2020 |
Hypertriglyceridemia | 3 | Mar 10, 2020 |
Hypertrophic cardiomyopathy | 3 | Sep 4, 2024 |
Hypertrophic cardiomyopathy 2 | 1 | Oct 3, 2019 |
Hypertrophic cardiomyopathy 25 | 1 | Mar 10, 2020 |
Hypertrophic cardiomyopathy 26 | 1 | Oct 3, 2019 |
Hypertrophic cardiomyopathy 3 | 2 | Oct 3, 2019 |
Hypertrophic cardiomyopathy 4 | 2 | Oct 3, 2019 |
Hypertrophic cardiomyopathy 7 | 1 | Oct 3, 2019 |
Hypogonadotropic hypogonadism 15 with or without anosmia | 1 | Mar 10, 2020 |
Hypogonadotropic hypogonadism 2 with or without anosmia | 1 | Sep 11, 2023 |
Hypogonadotropic hypogonadism 5 with or without anosmia | 1 | Oct 3, 2019 |
Hypomyelinating leukodystrophy 10 | 1 | Jun 27, 2018 |
Hypomyelinating leukodystrophy 12 | 2 | Nov 17, 2020 |
Hypomyelinating leukodystrophy 2 | 1 | Nov 21, 2018 |
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism | 38 | May 3, 2023 |
Hypomyelinating leukodystrophy 9 | 1 | Nov 21, 2018 |
Hypomyelination and Congenital Cataract | 2 | Mar 10, 2020 |
Hypoparathyroidism, deafness, renal disease syndrome | 1 | May 29, 2020 |
Hypospadias 2, X-linked | 1 | Mar 10, 2020 |
Hypotonia, ataxia, and delayed development syndrome | 3 | Mar 13, 2024 |
Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 | 3 | May 3, 2023 |
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 | 1 | Nov 21, 2018 |
Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 | 2 | Sep 11, 2023 |
Immune dysregulation, autoimmunity, and autoinflammation | 2 | Jun 20, 2024 |
Infantile cerebellar-retinal degeneration | 1 | Sep 11, 2023 |
Infantile epilepsy | 1 | Mar 10, 2020 |
Infantile neuroaxonal dystrophy | 3 | May 3, 2023 |
Infantile-onset ascending hereditary spastic paralysis | 3 | May 4, 2022 |
Inflammatory bowel disease | 1 | Mar 10, 2020 |
Insulin-dependent diabetes mellitus secretory diarrhea syndrome | 1 | May 3, 2023 |
Intellectual developmental disorder 62 | 1 | Jan 27, 2023 |
Intellectual developmental disorder with cardiac defects and dysmorphic facies | 1 | Jan 27, 2023 |
Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies | 2 | Mar 13, 2024 |
Intellectual developmental disorder with neuropsychiatric features | 2 | May 22, 2024 |
Intellectual developmental disorder with or without epilepsy or cerebellar ataxia | 1 | May 29, 2020 |
Intellectual developmental disorder with speech delay, autism, and dysmorphic facies | 2 | Sep 11, 2023 |
Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities | 2 | Aug 29, 2022 |
Intellectual developmental disorder, X-linked, syndromic, Pilorge type | 1 | Dec 21, 2023 |
Intellectual developmental disorder, autosomal dominant 64 | 1 | May 3, 2023 |
Intellectual disability | 12 | May 22, 2024 |
Intellectual disability, X-linked 102 | 7 | Sep 11, 2023 |
Intellectual disability, X-linked 104 | 1 | Nov 21, 2018 |
Intellectual disability, X-linked 106 | 1 | May 29, 2020 |
Intellectual disability, X-linked 99 | 1 | Mar 10, 2020 |
Intellectual disability, X-linked 99, syndromic, female-restricted | 3 | May 3, 2023 |
Intellectual disability, X-linked, syndromic 33 | 1 | Sep 26, 2018 |
Intellectual disability, autosomal dominant 1 | 1 | Aug 29, 2022 |
Intellectual disability, autosomal dominant 14 | 4 | Jan 27, 2023 |
Intellectual disability, autosomal dominant 20 | 1 | Sep 11, 2023 |
Intellectual disability, autosomal dominant 22 | 10 | Oct 6, 2023 |
Intellectual disability, autosomal dominant 42 | 1 | May 4, 2022 |
Intellectual disability, autosomal dominant 5 | 2 | May 3, 2023 |
Intellectual disability, autosomal dominant 55, with seizures | 1 | Sep 11, 2023 |
Intellectual disability, autosomal dominant 56 | 1 | Jan 27, 2023 |
Intellectual disability, autosomal dominant 57 | 2 | Aug 29, 2022 |
Intellectual disability, autosomal dominant 8 | 1 | Oct 3, 2019 |
Intellectual disability, autosomal dominant 9 | 1 | Oct 3, 2019 |
Intellectual disability, autosomal recessive 13 | 3 | May 3, 2023 |
Intellectual disability, autosomal recessive 5 | 3 | May 3, 2023 |
Intellectual disability, autosomal recessive 57 | 1 | May 29, 2020 |
Intellectual disability, autosomal recessive 65 | 1 | May 3, 2023 |
Intellectual disability, autosomal recessive 66 | 2 | May 4, 2022 |
Intellectual disability-hypotonic facies syndrome, X-linked, 1 | 5 | May 4, 2022 |
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome | 2 | Jan 27, 2023 |
Intellectual disability-severe speech delay-mild dysmorphism syndrome | 1 | May 3, 2023 |
Intellectual disability-strabismus syndrome | 1 | Jun 27, 2018 |
Interstitial 6q microdeletion syndrome | 1 | Aug 29, 2022 |
Iron-refractory iron deficiency anemia | 9 | Jun 20, 2024 |
Isolated Pierre-Robin syndrome | 1 | Jun 27, 2018 |
Jeune thoracic dystrophy | 1 | Jan 27, 2023 |
Joubert syndrome 1 | 3 | May 3, 2023 |
Joubert syndrome 10 | 1 | Jul 1, 2017 |
Joubert syndrome 13 | 2 | Sep 26, 2018 |
Joubert syndrome 14 | 2 | Sep 26, 2018 |
Joubert syndrome 17 | 11 | Mar 10, 2020 |
Joubert syndrome 23 | 2 | Mar 13, 2024 |
Joubert syndrome 24 | 1 | Jan 27, 2023 |
Joubert syndrome 25 | 1 | Jan 27, 2023 |
Joubert syndrome 27 | 1 | May 4, 2022 |
Joubert syndrome 28 | 1 | May 3, 2023 |
Joubert syndrome 3 | 7 | May 4, 2022 |
Joubert syndrome 30 | 4 | Mar 13, 2024 |
Joubert syndrome 33 | 1 | Jan 27, 2023 |
Joubert syndrome 5 | 4 | May 4, 2022 |
Joubert syndrome 6 | 9 | May 22, 2024 |
Joubert syndrome 7 | 3 | Jan 27, 2023 |
Joubert syndrome 9 | 4 | May 4, 2022 |
Juvenile amyotrophic lateral sclerosis | 1 | May 4, 2022 |
KBG syndrome | 1 | Jan 27, 2023 |
Kabuki syndrome 1 | 5 | Mar 13, 2024 |
King Denborough syndrome | 2 | Mar 9, 2020 |
Kleefstra syndrome 1 | 1 | Nov 9, 2023 |
Koolen-de Vries syndrome | 3 | May 22, 2024 |
L-ferritin deficiency | 1 | Jan 27, 2023 |
L1 syndrome | 1 | May 3, 2023 |
LAMA2-related muscular dystrophy | 1 | May 3, 2023 |
LAMB2-related infantile-onset nephrotic syndrome | 2 | Mar 10, 2020 |
Lafora disease | 2 | Mar 29, 2024 |
Landau-Kleffner syndrome | 1 | May 22, 2024 |
Laron-type isolated somatotropin defect | 1 | May 3, 2023 |
Late-onset retinal degeneration | 2 | Oct 3, 2019 |
Lateral meningocele syndrome | 1 | Dec 21, 2023 |
Leber congenital amaurosis | 1 | May 29, 2020 |
Leber congenital amaurosis 10 | 4 | May 4, 2022 |
Leber congenital amaurosis 13 | 6 | May 29, 2020 |
Leber congenital amaurosis 2 | 1 | Mar 10, 2020 |
Leber congenital amaurosis 6 | 8 | Nov 17, 2020 |
Leber congenital amaurosis 8 | 2 | Oct 3, 2019 |
Left ventricular noncompaction 8 | 1 | Mar 10, 2020 |
Leigh syndrome | 4 | May 3, 2023 |
Lethal congenital contracture syndrome 11 | 2 | Oct 3, 2019 |
Lethal congenital contracture syndrome 7 | 1 | Jul 17, 2024 |
Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome | 1 | Nov 9, 2023 |
Leukocyte adhesion deficiency type II | 1 | Nov 21, 2018 |
Leukodystrophy | 41 | Jan 25, 2024 |
Leukodystrophy, hypomyelinating, 18 | 2 | Jan 27, 2023 |
Leukoencephalopathy | 1 | Mar 11, 2020 |
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome | 2 | Sep 4, 2024 |
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | 32 | Jan 25, 2024 |
Limb-girdle muscular dystrophy | 3 | May 29, 2020 |
Limb-girdle muscular dystrophy due to POMK deficiency | 2 | Oct 3, 2019 |
Lipodystrophy | 2 | Mar 9, 2020 |
Lissencephaly | 1 | May 4, 2022 |
Lissencephaly 9 with complex brainstem malformation | 1 | Mar 13, 2024 |
Lissencephaly due to LIS1 mutation | 2 | Jun 27, 2018 |
Lissencephaly due to TUBA1A mutation | 14 | May 22, 2024 |
Lissencephaly type 1 due to doublecortin gene mutation | 3 | Nov 9, 2023 |
Lissencephaly type 3 | 1 | Mar 13, 2024 |
Low bone mineral density | 1 | Mar 10, 2020 |
MED12-related intellectual disability syndrome | 1 | May 3, 2023 |
MGAT2-congenital disorder of glycosylation | 2 | Sep 26, 2018 |
MYH7-related skeletal myopathy | 1 | Oct 3, 2019 |
Macrocephaly | 2 | Jun 1, 2020 |
Macrocephaly-autism syndrome | 1 | Jan 27, 2023 |
Malan overgrowth syndrome | 1 | Jan 27, 2023 |
Maple syrup urine disease | 1 | Mar 10, 2020 |
Marcus Gunn jaw winking synkinesis | 4 | Mar 1, 2024 |
Martsolf syndrome 1 | 1 | Jan 27, 2023 |
Maturity onset diabetes mellitus in young | 11 | Mar 9, 2020 |
Maturity-onset diabetes of the young type 1 | 8 | Mar 9, 2020 |
Maturity-onset diabetes of the young type 2 | 20 | Mar 9, 2020 |
Maturity-onset diabetes of the young type 3 | 33 | Mar 9, 2020 |
Maturity-onset diabetes of the young type 4 | 4 | Mar 9, 2020 |
Maturity-onset diabetes of the young type 8 | 2 | Mar 9, 2020 |
Meckel syndrome, type 1 | 1 | May 3, 2023 |
Meckel syndrome, type 11 | 2 | May 22, 2024 |
Meckel-Gruber-like syndrome | 1 | Mar 10, 2020 |
Megalencephalic leukoencephalopathy with subcortical cysts 1 | 2 | Nov 21, 2018 |
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 | 1 | Sep 11, 2023 |
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 | 1 | Oct 3, 2019 |
Menke-Hennekam syndrome 1 | 1 | Aug 29, 2022 |
Merosin deficient congenital muscular dystrophy | 3 | Nov 17, 2020 |
Metachromatic leukodystrophy | 2 | May 3, 2023 |
Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency | 1 | Mar 10, 2020 |
Metopic ridging-ptosis-facial dysmorphism syndrome | 1 | May 29, 2020 |
Microcephalic osteodysplastic primordial dwarfism type II | 1 | May 3, 2023 |
Microcephalic primordial dwarfism due to RTTN deficiency | 2 | May 3, 2023 |
Microcephalic primordial dwarfism, Alazami type | 1 | May 3, 2023 |
Microcephaly | 2 | Jun 20, 2024 |
Microcephaly 13, primary, autosomal recessive | 1 | May 4, 2022 |
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | 2 | May 22, 2024 |
Microcephaly 20, primary, autosomal recessive | 1 | May 29, 2020 |
Microcephaly 5, primary, autosomal recessive | 10 | Jan 27, 2023 |
Microcephaly 6, primary, autosomal recessive | 2 | May 4, 2022 |
Microcephaly 7, primary, autosomal recessive | 1 | Jan 27, 2023 |
Microcephaly and chorioretinopathy 3 | 1 | May 3, 2023 |
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability | 5 | May 3, 2023 |
Microcephaly, seizures, and developmental delay | 2 | Nov 13, 2023 |
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome | 1 | Sep 11, 2023 |
Microphthalmia | 1 | Jun 20, 2024 |
Mirror movements 1 | 3 | Sep 11, 2023 |
Mirror movements 1 and/or agenesis of the corpus callosum | 2 | May 3, 2023 |
Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant | 3 | Mar 10, 2020 |
Mitochondrial DNA depletion syndrome 13 | 2 | May 3, 2023 |
Mitochondrial complex 1 deficiency, nuclear type 17 | 1 | May 3, 2023 |
Mitochondrial complex I deficiency | 2 | Nov 17, 2020 |
Mitochondrial complex I deficiency, nuclear type 1 | 1 | Oct 3, 2019 |
Mitochondrial complex III deficiency nuclear type 2 | 1 | Sep 11, 2023 |
Mitochondrial complex IV deficiency, nuclear type 1 | 1 | Oct 3, 2019 |
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 | 1 | Sep 26, 2018 |
Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome | 6 | Jan 27, 2023 |
Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency | 2 | Nov 17, 2020 |
Miyoshi muscular dystrophy 3 | 1 | Jan 27, 2023 |
Monogenic diabetes | 19 | Mar 9, 2020 |
Mowat-Wilson syndrome | 6 | Jan 27, 2023 |
Mucopolysaccharidosis type 1 | 32 | Dec 11, 2023 |
Mucopolysaccharidosis, MPS-I-H/S | 2 | Oct 3, 2019 |
Mulibrey nanism syndrome | 4 | Nov 17, 2020 |
Multicentric carpo-tarsal osteolysis with or without nephropathy | 1 | Oct 3, 2019 |
Multicystic kidney dysplasia | 1 | May 29, 2020 |
Multiminicore myopathy | 3 | Dec 21, 2023 |
Multiple congenital anomalies/dysmorphic syndrome | 1 | Sep 11, 2023 |
Multiple mitochondrial dysfunctions syndrome 2 | 1 | May 4, 2022 |
Multiple mitochondrial dysfunctions syndrome 6 | 1 | May 3, 2023 |
Muscular dystrophy | 1 | Jul 1, 2017 |
Muscular dystrophy, limb-girdle, autosomal recessive 23 | 2 | May 29, 2020 |
Muscular dystrophy-dystroglycanopathy | 53 | Jan 27, 2023 |
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 | 1 | Sep 26, 2018 |
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 | 1 | Jul 1, 2017 |
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 | 1 | Sep 26, 2018 |
Muscular dystrophy-dystroglycanopathy type B5 | 1 | May 29, 2020 |
Muscular dystrophy-dystroglycanopathy, type C | 1 | May 3, 2023 |
Myeloperoxidase deficiency | 1 | Mar 10, 2020 |
Myeloproliferative neoplasm | 1 | Dec 21, 2023 |
Myhre syndrome | 1 | Jul 1, 2017 |
Myofibrillar myopathy 4 | 1 | Jan 27, 2023 |
Myofibrillar myopathy 6 | 3 | Mar 10, 2020 |
Myofibrillar myopathy 8 | 3 | May 3, 2023 |
Myopathy caused by variation in GMPPB | 1 | May 3, 2023 |
Myopathy, centronuclear, 5 | 5 | Jan 27, 2023 |
Myopathy, congenital, with structured cores and z-line abnormalities | 1 | May 29, 2020 |
Myopathy, distal, 5 | 2 | Nov 9, 2023 |
Myopathy, distal, 6, adult-onset, autosomal dominant | 2 | Oct 2, 2023 |
Myopathy, lactic acidosis, and sideroblastic anemia 2 | 1 | Oct 3, 2019 |
Myopathy, myofibrillar, 9, with early respiratory failure | 1 | May 3, 2023 |
Myopathy, proximal, and ophthalmoplegia | 2 | May 3, 2023 |
Myopathy, tubular aggregate, 1 | 2 | May 22, 2024 |
Myosin storage myopathy | 4 | May 3, 2023 |
Nemaline myopathy 10 | 1 | Jan 27, 2023 |
Nemaline myopathy 2 | 19 | Sep 4, 2024 |
Nemaline myopathy 5 | 3 | May 3, 2023 |
Neonatal death | 2 | Oct 3, 2019 |
Nephronophthisis | 2 | May 29, 2020 |
Nephronophthisis 1 | 1 | Sep 11, 2023 |
Nephronophthisis 12 | 2 | Jul 1, 2017 |
Nephronophthisis 3 | 2 | Sep 26, 2018 |
Nephronophthisis 4 | 1 | Mar 10, 2020 |
Nephrotic syndrome | 1 | May 29, 2020 |
Nephrotic syndrome, type 12 | 3 | Oct 3, 2019 |
Nephrotic syndrome, type 2 | 2 | Oct 3, 2019 |
Nephrotic syndrome, type 3 | 2 | Sep 11, 2023 |
Nephrotic syndrome, type 4 | 1 | May 3, 2023 |
Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset | 1 | May 3, 2023 |
Neurodegeneration with brain iron accumulation 5 | 1 | May 22, 2024 |
Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures | 1 | Jan 27, 2023 |
Neurodevelopmental disorder | 35 | Jun 20, 2024 |
Neurodevelopmental disorder with cerebellar atrophy and with or without seizures | 3 | May 4, 2022 |
Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies | 1 | Jan 27, 2023 |
Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum | 1 | Jan 27, 2023 |
Neurodevelopmental disorder with hypotonia, seizures, and absent language | 2 | May 29, 2020 |
Neurodevelopmental disorder with involuntary movements | 1 | Oct 2, 2023 |
Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies | 2 | Sep 11, 2023 |
Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies | 4 | Sep 11, 2023 |
Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy | 4 | May 22, 2024 |
Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures | 1 | Sep 11, 2023 |
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | 1 | Oct 3, 2019 |
Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies | 1 | Nov 17, 2020 |
Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures | 2 | Aug 29, 2022 |
Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures | 2 | Nov 17, 2020 |
Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1 | 1 | Jan 27, 2023 |
Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2 | 2 | Jun 20, 2024 |
Neuromuscular disease | 2 | Jun 20, 2024 |
Neuronal ceroid lipofuscinosis | 1 | May 3, 2023 |
Neuronal ceroid lipofuscinosis 1 | 2 | Jan 27, 2023 |
Neuronal ceroid lipofuscinosis 2 | 2 | May 3, 2023 |
Neuronal ceroid lipofuscinosis 3 | 1 | Feb 12, 2024 |
Neuronal ceroid lipofuscinosis 5 | 2 | May 4, 2022 |
Neuronal ceroid lipofuscinosis 7 | 4 | Sep 11, 2023 |
Neuronal ceroid lipofuscinosis 8 | 2 | May 4, 2022 |
Neuronopathy, distal hereditary motor, type 2A | 1 | May 29, 2020 |
Neuronopathy, distal hereditary motor, type 7A | 1 | May 3, 2023 |
Neuropathy, hereditary sensory and autonomic, type 1A | 1 | Nov 17, 2020 |
Neutral 1 amino acid transport defect | 1 | May 3, 2023 |
Niemann-Pick disease, type A | 1 | Mar 9, 2020 |
Niemann-Pick disease, type C1 | 2 | Oct 3, 2019 |
Non-ketotic hyperglycinemia | 2 | May 4, 2022 |
Noonan syndrome 1 | 1 | Oct 3, 2019 |
Noonan syndrome 2 | 2 | May 3, 2023 |
Noonan syndrome 8 | 1 | Oct 3, 2019 |
Noonan syndrome-like disorder with loose anagen hair 1 | 1 | Oct 3, 2019 |
Norman-Roberts syndrome | 1 | May 3, 2023 |
OPA1-related optic atrophy with or without extraocular features | 2 | Mar 13, 2024 |
Obesity | 13 | Mar 9, 2020 |
Occult macular dystrophy | 1 | May 22, 2024 |
Ocular motility disease | 1 | Mar 1, 2024 |
Optic atrophy 10 with or without ataxia, intellectual disability, and seizures | 1 | Sep 11, 2023 |
Orofaciodigital syndrome type 14 | 1 | May 4, 2022 |
Osteodysplastic primordial dwarfism, type 1 | 1 | Dec 21, 2023 |
Osteopathia striata with cranial sclerosis | 1 | May 3, 2023 |
PCARE-related retinopathy | 1 | May 3, 2023 |
PEHO syndrome | 1 | May 29, 2020 |
PHGDH deficiency | 2 | May 3, 2023 |
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome | 1 | Dec 21, 2023 |
PLA2G6-associated neurodegeneration | 79 | Jan 27, 2023 |
PMM2-congenital disorder of glycosylation | 1 | Nov 21, 2018 |
PPARG-related familial partial lipodystrophy | 1 | Mar 9, 2020 |
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation | 1 | May 3, 2023 |
Pancytopenia-developmental delay syndrome | 1 | May 3, 2023 |
Parkinson disease 13, autosomal dominant, susceptibility to | 1 | Mar 10, 2020 |
Pelizaeus-Merzbacher disease | 1 | Mar 10, 2020 |
Pendred syndrome | 1 | Mar 10, 2020 |
Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development | 4 | Mar 13, 2024 |
Periventricular heterotopia with microcephaly, autosomal recessive | 1 | Mar 10, 2020 |
Peroxisome biogenesis disorder 6A (Zellweger) | 1 | Mar 10, 2020 |
Peroxisome biogenesis disorder 8A (Zellweger) | 1 | Oct 3, 2019 |
Peroxisome biogenesis disorder due to PEX1 defect | 1 | May 3, 2023 |
Peroxisome biogenesis disorder due to PEX5 defect | 2 | Jan 27, 2023 |
Pettigrew syndrome | 1 | May 3, 2023 |
Phelan-McDermid syndrome | 2 | Sep 11, 2023 |
Piebald skin depigmentation | 1 | Mar 10, 2020 |
Pitt-Hopkins syndrome | 4 | Nov 13, 2023 |
Polycystic kidney disease, adult type | 1 | Oct 3, 2019 |
Polydactyly | 1 | Mar 13, 2024 |
Polyglucosan body myopathy type 2 | 2 | May 3, 2023 |
Polymicrogyria | 1 | Sep 11, 2023 |
Pontocerebellar hypoplasia type 10 | 1 | Oct 3, 2019 |
Pontocerebellar hypoplasia type 1A | 2 | Jan 27, 2023 |
Pontocerebellar hypoplasia type 1B | 1 | Oct 3, 2019 |
Pontocerebellar hypoplasia type 2A | 1 | Oct 3, 2019 |
Pontocerebellar hypoplasia type 2D | 1 | Nov 21, 2018 |
Pontocerebellar hypoplasia type 3 | 1 | Nov 21, 2018 |
Pontocerebellar hypoplasia type 9 | 2 | Jan 27, 2023 |
Pontocerebellar hypoplasia, type 11 | 1 | May 29, 2020 |
Pontocerebellar hypoplasia, type 1C | 2 | Oct 3, 2019 |
Porencephaly 2 | 1 | Jan 27, 2023 |
Premature ovarian failure | 2 | Mar 10, 2020 |
Primary ciliary dyskinesia 23 | 1 | Mar 13, 2024 |
Primary erythromelalgia | 1 | Mar 10, 2020 |
Primary hyperoxaluria, type I | 1 | Jun 27, 2018 |
Primrose syndrome | 1 | May 22, 2024 |
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 | 1 | Mar 10, 2020 |
Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome | 1 | Nov 21, 2018 |
Progressive muscle weakness | 2 | Feb 28, 2019 |
Progressive pseudorheumatoid dysplasia | 1 | Mar 10, 2020 |
Pseudo-Hurler polydystrophy | 1 | Mar 10, 2020 |
Pseudo-TORCH syndrome 1 | 2 | May 3, 2023 |
Pseudo-TORCH syndrome 2 | 1 | May 3, 2023 |
Pseudopseudohypoparathyroidism | 1 | Sep 26, 2018 |
Psoriasis | 1 | Mar 10, 2020 |
Ptosis | 1 | Mar 13, 2024 |
Pyridoxine-dependent epilepsy caused by ALDH7A1 mutant | 1 | May 4, 2022 |
Pyruvate dehydrogenase E3-binding protein deficiency | 1 | Jan 27, 2023 |
Pyruvate kinase deficiency of red cells | 1 | Mar 10, 2020 |
Qualitative or quantitative defects of alpha-sarcoglycan | 1 | Jan 27, 2023 |
Qualitative or quantitative defects of beta-myosin heavy chain (MYH7) | 1 | Jan 27, 2023 |
Qualitative or quantitative defects of calpain | 1 | Jan 27, 2023 |
Qualitative or quantitative defects of dysferlin | 2 | May 3, 2023 |
Qualitative or quantitative defects of merosin | 2 | May 3, 2023 |
Qualitative or quantitative defects of myotubularin | 1 | Jan 27, 2023 |
Qualitative or quantitative defects of plectin | 1 | May 3, 2023 |
RASopathy | 1 | Mar 13, 2024 |
RPGR-related retinopathy | 6 | May 3, 2023 |
RYR1-related myopathy | 18 | Mar 13, 2024 |
Radial aplasia-thrombocytopenia syndrome | 2 | Sep 11, 2023 |
Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 | 2 | May 17, 2023 |
Rahman syndrome | 1 | Oct 3, 2019 |
Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome | 11 | May 3, 2023 |
Renal agenesis | 1 | Sep 11, 2023 |
Renal cysts and diabetes syndrome | 10 | Dec 21, 2023 |
Renal hypodysplasia/aplasia 3 | 2 | Jan 27, 2023 |
Renal tubular acidosis with progressive nerve deafness | 1 | Mar 10, 2020 |
Renal-hepatic-pancreatic dysplasia 1 | 1 | May 3, 2023 |
Renpenning syndrome | 1 | May 3, 2023 |
Retinal dystrophy | 1 | Jun 20, 2024 |
Retinal dystrophy with or without macular staphyloma | 2 | May 3, 2023 |
Retinitis pigmentosa | 241 | May 25, 2022 |
Retinitis pigmentosa 1 | 1 | Mar 10, 2020 |
Retinitis pigmentosa 11 | 8 | Sep 11, 2023 |
Retinitis pigmentosa 12 | 3 | Sep 11, 2023 |
Retinitis pigmentosa 14 | 2 | May 3, 2023 |
Retinitis pigmentosa 19 | 5 | May 3, 2023 |
Retinitis pigmentosa 2 | 1 | Mar 10, 2020 |
Retinitis pigmentosa 25 | 3 | Sep 11, 2023 |
Retinitis pigmentosa 26 | 2 | May 4, 2022 |
Retinitis pigmentosa 3 | 4 | Sep 11, 2023 |
Retinitis pigmentosa 33 | 1 | Oct 3, 2019 |
Retinitis pigmentosa 38 | 3 | Sep 11, 2023 |
Retinitis pigmentosa 39 | 2 | Jul 1, 2017 |
Retinitis pigmentosa 4 | 1 | Sep 26, 2018 |
Retinitis pigmentosa 40 | 3 | May 3, 2023 |
Retinitis pigmentosa 56 | 1 | May 3, 2023 |
Retinitis pigmentosa 59 | 2 | May 4, 2022 |
Retinitis pigmentosa 62 | 1 | Sep 11, 2023 |
Retinitis pigmentosa 69 | 1 | Jun 5, 2023 |
Retinitis pigmentosa 74 | 4 | May 4, 2022 |
Retinitis pigmentosa 76 | 2 | Jan 27, 2023 |
Retinitis pigmentosa 78 | 2 | Oct 3, 2019 |
Retinitis pigmentosa 79 | 2 | May 29, 2020 |
Retinitis pigmentosa 80 | 1 | Jan 27, 2023 |
Retinopathy | 1 | Aug 31, 2023 |
Rett syndrome, congenital variant | 3 | Sep 11, 2023 |
Rh-null, regulator type | 1 | Mar 10, 2020 |
Roifman syndrome | 2 | May 3, 2023 |
Rubinstein-Taybi syndrome due to CREBBP mutations | 3 | Sep 11, 2023 |
SELENON-related myopathy | 1 | Nov 9, 2023 |
SLC39A8-CDG | 1 | Sep 26, 2018 |
Saldino-Mainzer syndrome | 3 | Sep 11, 2023 |
Sandhoff disease | 1 | Sep 11, 2023 |
Sarcotubular myopathy | 5 | Oct 3, 2019 |
Schaaf-Yang syndrome | 1 | May 29, 2020 |
Schimke immuno-osseous dysplasia | 2 | Jul 1, 2017 |
Schizophrenia | 1 | Mar 10, 2020 |
Schwartz-Jampel syndrome | 2 | Nov 21, 2018 |
See cases | 35 | Feb 11, 2019 |
Seizure | 3 | Mar 10, 2020 |
Senior-Loken syndrome 8 | 2 | May 22, 2024 |
Severe X-linked myotubular myopathy | 2 | Sep 11, 2023 |
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency | 1 | Nov 17, 2020 |
Severe early-childhood-onset retinal dystrophy | 3 | Mar 10, 2020 |
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome | 4 | Jan 27, 2023 |
Severe intellectual disability-progressive spastic diplegia syndrome | 1 | Nov 9, 2023 |
Severe myoclonic epilepsy in infancy | 3 | Mar 13, 2024 |
Short stature | 2 | Jun 1, 2020 |
Shwachman-Diamond syndrome 1 | 3 | May 3, 2023 |
Sjögren-Larsson syndrome | 3 | May 4, 2022 |
Skeletal muscle atrophy | 1 | May 29, 2020 |
Skraban-Deardorff syndrome | 1 | Sep 11, 2023 |
Sotos syndrome | 3 | Sep 11, 2023 |
Spastic ataxia 2 | 3 | Jan 27, 2023 |
Spastic ataxia 5 | 1 | Jan 27, 2023 |
Spastic paraplegia, intellectual disability, nystagmus, and obesity | 2 | May 3, 2023 |
Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome | 1 | May 3, 2023 |
Spermatogenic Failure | 2 | Mar 10, 2020 |
Sphingolipid activator protein 1 deficiency | 1 | Oct 3, 2019 |
Sphingomyelin/cholesterol lipidosis | 54 | Mar 9, 2020 |
Spinocerebellar ataxia type 21 | 1 | Jan 27, 2023 |
Spinocerebellar ataxia type 26 | 1 | Jan 27, 2023 |
Spinocerebellar ataxia type 29 | 1 | Oct 3, 2019 |
Spinocerebellar ataxia type 4 | 1 | May 22, 2024 |
Sponastrime dysplasia | 1 | May 3, 2023 |
Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures | 2 | Jan 27, 2023 |
Spondyloepiphyseal dysplasia with congenital joint dislocations | 1 | Nov 21, 2018 |
Spondylometaphyseal dysplasia | 1 | May 22, 2024 |
Spongy degeneration of central nervous system | 2 | Oct 3, 2019 |
Stickler syndrome type 2 | 1 | Dec 21, 2023 |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B | 1 | Jan 27, 2023 |
Syndromic X-linked intellectual disability Claes-Jensen type | 1 | Oct 3, 2019 |
Syndromic X-linked intellectual disability Najm type | 7 | Mar 28, 2024 |
Syndromic X-linked intellectual disability Nascimento type | 1 | Sep 11, 2023 |
Syndromic intellectual disability | 3 | May 29, 2020 |
Syndromic microphthalmia type 5 | 1 | Jan 27, 2023 |
TCF12-related craniosynostosis | 1 | Jan 27, 2023 |
TPM3-related myopathy | 1 | Jan 27, 2023 |
TRPV4-related bone disorder | 1 | Mar 13, 2024 |
TTN-related myopathy | 7 | May 3, 2023 |
TUBB3-related tubulinopathy | 3 | Mar 13, 2024 |
TWIST1-related craniosynostosis | 1 | Mar 13, 2024 |
Tatton-Brown-Rahman overgrowth syndrome | 1 | May 3, 2023 |
Tay-Sachs disease | 1 | Mar 10, 2020 |
Temtamy syndrome | 1 | May 4, 2022 |
Tetralogy of Fallot | 1 | Mar 10, 2020 |
Townes-Brocks syndrome 1 | 1 | May 29, 2020 |
Type II diabetes mellitus | 5 | Mar 10, 2020 |
Ullrich congenital muscular dystrophy 1A | 12 | Dec 21, 2023 |
Ulnar-mammary syndrome | 1 | Dec 21, 2023 |
Usher syndrome type 1F | 66 | Jan 27, 2023 |
Usher syndrome type 2A | 4 | Jan 27, 2023 |
Usher syndrome type 2C | 4 | Mar 10, 2020 |
Usher syndrome type 3A | 1 | May 4, 2022 |
Usher syndrome, type 4 | 1 | Jan 27, 2023 |
VATER association | 1 | May 29, 2020 |
Van Maldergem syndrome 2 | 3 | May 3, 2023 |
Vasculitis due to ADA2 deficiency | 2 | May 3, 2023 |
Ververi-Brady syndrome | 1 | Dec 21, 2023 |
Vici syndrome | 3 | May 3, 2023 |
Visceral myopathy 1 | 1 | Jun 27, 2018 |
Vitamin D-dependent rickets type II with alopecia | 2 | Mar 10, 2020 |
Walker-Warburg congenital muscular dystrophy | 2 | Nov 17, 2020 |
Warburg micro syndrome 1 | 4 | Sep 11, 2023 |
Warburg micro syndrome 2 | 1 | Jan 27, 2023 |
Weiss-kruszka syndrome | 5 | Mar 13, 2024 |
Wieacker-Wolff syndrome | 4 | May 3, 2023 |
Wieacker-Wolff syndrome (spectrum) | 1 | Jan 27, 2023 |
Wieacker-Wolff syndrome, female-restricted | 1 | Jan 27, 2023 |
Wiedemann-Steiner syndrome | 3 | May 3, 2023 |
Wolfram syndrome 1 | 2 | Nov 9, 2023 |
X-linked Alport syndrome | 4 | May 4, 2022 |
X-linked Emery-Dreifuss muscular dystrophy | 1 | Sep 11, 2023 |
X-linked cerebral adrenoleukodystrophy | 1 | May 4, 2022 |
X-linked cone-rod dystrophy 3 | 1 | Sep 11, 2023 |
X-linked intellectual disability | 1 | Mar 10, 2020 |
X-linked intellectual disability-cerebellar hypoplasia syndrome | 1 | May 3, 2023 |
X-linked intellectual disability-short stature-overweight syndrome | 2 | Mar 10, 2020 |
X-linked myopathy with postural muscle atrophy | 1 | Sep 11, 2023 |
X-linked recessive nephrolithiasis with renal failure | 1 | Oct 3, 2019 |
X-linked sideroblastic anemia 1 | 1 | May 3, 2023 |
X-linked sideroblastic anemia with ataxia | 1 | May 3, 2023 |
ZTTK syndrome | 3 | May 3, 2023 |
beta Thalassemia | 1 | May 3, 2023 |
not specified | 25 | Mar 9, 2020 |
skeletal contractures | 1 | May 29, 2020 |