| 2-aminoadipic 2-oxoadipic aciduria | 1 | Mar 14, 2024 |
| ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder | 1 | Apr 18, 2023 |
| ADRA2B-Related Disorder | 1 | Jul 11, 2023 |
| ALG1-congenital disorder of glycosylation | 1 | May 25, 2023 |
| ARHGEF9-Related Disorder | 1 | Dec 7, 2021 |
| ARHGEF9-related neurodevelopmental disorder | 1 | Feb 21, 2023 |
| Achondrogenesis type II | 1 | Sep 1, 2023 |
| Adams-Oliver syndrome 5 | 1 | Dec 7, 2021 |
| Adenylosuccinate lyase deficiency | 2 | Jul 12, 2022 |
| Agammaglobulinemia 2, autosomal recessive | 1 | Jul 11, 2023 |
| Aicardi-Goutieres syndrome 6 | 1 | May 25, 2023 |
| Alstrom syndrome | 1 | Dec 6, 2022 |
| Alternating hemiplegia of childhood 1 | 2 | Mar 14, 2024 |
| Aniridia 1 | 1 | Mar 14, 2024 |
| Arginine:glycine amidinotransferase deficiency | 1 | Mar 14, 2024 |
| Arrhythmogenic right ventricular dysplasia 8 | 2 | Mar 18, 2022 |
| Ataxia with oculomotor apraxia type 3 | 1 | May 25, 2023 |
| Ataxia-telangiectasia syndrome | 1 | May 25, 2023 |
| Autism | 1 | May 25, 2023 |
| Autism spectrum disorder | 11 | Oct 3, 2023 |
| Autism spectrum disorder due to AUTS2 deficiency | 3 | Mar 14, 2024 |
| Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures | 4 | May 25, 2023 |
| Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome | 1 | Mar 14, 2024 |
| Autosomal dominant nocturnal frontal lobe epilepsy | 1 | May 25, 2023 |
| Autosomal dominant nocturnal frontal lobe epilepsy 1 | 2 | Sep 1, 2023 |
| Autosomal dominant nocturnal frontal lobe epilepsy 3 | 1 | May 25, 2023 |
| Autosomal dominant nocturnal frontal lobe epilepsy 4 | 2 | May 25, 2023 |
| Autosomal dominant nonsyndromic hearing loss 15 | 2 | Jul 11, 2023 |
| Autosomal dominant nonsyndromic hearing loss 3A | 1 | Jul 11, 2023 |
| Autosomal dominant nonsyndromic hearing loss 41 | 1 | Mar 14, 2024 |
| Autosomal dominant nonsyndromic hearing loss 65 | 1 | Mar 14, 2024 |
| Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome | 1 | Nov 28, 2023 |
| Autosomal recessive congenital ichthyosis 1 | 1 | Dec 7, 2021 |
| Autosomal recessive congenital ichthyosis 4A | 2 | Aug 18, 2022 |
| Autosomal recessive congenital ichthyosis 4B | 2 | Aug 18, 2022 |
| Autosomal recessive limb-girdle muscular dystrophy type 2J | 2 | Dec 7, 2021 |
| Autosomal recessive limb-girdle muscular dystrophy type 2N | 1 | Mar 22, 2022 |
| Autosomal recessive nonsyndromic hearing loss 102 | 1 | May 25, 2023 |
| Autosomal recessive nonsyndromic hearing loss 12 | 1 | Jul 11, 2023 |
| Autosomal recessive nonsyndromic hearing loss 1A | 1 | Jul 11, 2023 |
| Autosomal recessive nonsyndromic hearing loss 86 | 1 | Mar 14, 2024 |
| Bannayan-Riley-Ruvalcaba syndrome | 5 | Mar 14, 2024 |
| Baraitser-Winter syndrome 1 | 1 | Jul 11, 2023 |
| Becker muscular dystrophy | 3 | May 25, 2023 |
| Benign familial neonatal-infantile seizures 1 | 2 | Sep 1, 2023 |
| Biotin-responsive basal ganglia disease | 1 | Jul 11, 2023 |
| Birk-Barel syndrome | 1 | Nov 28, 2023 |
| Brain malformation | 1 | Jul 12, 2022 |
| Brugada syndrome 1 | 1 | Mar 14, 2024 |
| CACNA1A-related disorder | 1 | Nov 28, 2023 |
| CAMTA1-Related Disorder | 1 | May 25, 2023 |
| CDK13-Related Disorder | 1 | Feb 21, 2023 |
| CEBALID syndrome | 1 | May 6, 2022 |
| CHD4-Related Disorder | 1 | Feb 21, 2023 |
| COG7 congenital disorder of glycosylation | 2 | May 25, 2023 |
| COL11A2- Related Disorder | 1 | Jul 11, 2023 |
| COL4A2-Related Disorder | 1 | Jul 12, 2022 |
| CTCF-Related Disorder | 1 | Feb 21, 2023 |
| CTNNB1-Related Disorder | 1 | Apr 18, 2023 |
| CUL4B-Related Disorder | 1 | Feb 21, 2023 |
| Café-au-lait macules with pulmonary stenosis | 1 | May 25, 2023 |
| Cardiac anomalies - developmental delay - facial dysmorphism syndrome | 1 | Mar 14, 2024 |
| Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 | 2 | Mar 14, 2024 |
| Cerebellar atrophy, developmental delay, and seizures | 1 | Mar 14, 2024 |
| Charcot-Marie-Tooth disease X-linked recessive 4 | 1 | Sep 1, 2023 |
| Charcot-Marie-Tooth disease axonal type 2N | 1 | Sep 1, 2023 |
| Charcot-Marie-Tooth disease axonal type 2O | 4 | May 25, 2023 |
| Chopra-Amiel-Gordon syndrome | 1 | Dec 7, 2021 |
| Chorea-acanthocytosis | 1 | May 25, 2023 |
| Chromosome 2p25.3 deletion syndrome | 1 | May 9, 2022 |
| Chromosome Xq28 duplication syndrome | 1 | Jul 11, 2023 |
| Clark-Baraitser syndrome | 2 | Mar 14, 2024 |
| Classic homocystinuria | 1 | Nov 28, 2023 |
| Coffin-Siris syndrome | 1 | Jul 11, 2023 |
| Coffin-Siris syndrome 1 | 5 | Mar 14, 2024 |
| Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome | 1 | Feb 21, 2023 |
| Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2 | 2 | Mar 14, 2024 |
| Complex cortical dysplasia with other brain malformations 1 | 4 | Nov 28, 2023 |
| Complex cortical dysplasia with other brain malformations 5 | 1 | May 25, 2023 |
| Complex cortical dysplasia with other brain malformations 7 | 1 | May 25, 2023 |
| Complex neurodevelopmental disorder | 2 | Jul 11, 2023 |
| Congenital Fibrosis of the Extraocular Muscles 1B | 1 | Mar 3, 2022 |
| Congenital aniridia | 1 | May 6, 2022 |
| Congenital factor VII deficiency | 2 | Mar 14, 2024 |
| Congenital fibrosis of extraocular muscles | 1 | Jul 12, 2022 |
| Congenital fibrosis of extraocular muscles type 1 | 1 | Mar 3, 2022 |
| Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder | 1 | May 25, 2023 |
| Congenital myasthenic syndrome 8 | 2 | Jul 11, 2023 |
| Congenital myopathy with fiber type disproportion | 1 | Mar 3, 2022 |
| Congenital myotonia, autosomal recessive form | 1 | Dec 6, 2022 |
| Conotruncal heart malformations | 2 | May 25, 2023 |
| Continuous spikes and waves during sleep | 2 | May 25, 2023 |
| Cortical dysplasia-focal epilepsy syndrome | 1 | May 25, 2023 |
| Cowden syndrome | 3 | Aug 31, 2023 |
| Cowden syndrome 1 | 3 | Mar 14, 2024 |
| Creatine transporter deficiency | 1 | Sep 1, 2023 |
| DEAF1-Related Disorder | 1 | May 25, 2023 |
| DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome | 1 | Sep 1, 2023 |
| DNMT3A-Related Disorder | 1 | Dec 6, 2022 |
| DOORS syndrome | 2 | Mar 14, 2024 |
| DYNC1H1-Related Disorder | 1 | Jul 11, 2023 |
| DYRK1A-related intellectual disability syndrome | 2 | May 25, 2023 |
| DeSanto-Shinawi syndrome | 3 | May 25, 2023 |
| DeSanto-Shinawi syndrome due to WAC point mutation | 4 | May 25, 2023 |
| Deafness | 1 | May 25, 2023 |
| Dermatitis, atopic, 2 | 2 | Mar 21, 2024 |
| Developmental and epileptic encephalopathy, 1 | 3 | Sep 1, 2023 |
| Developmental and epileptic encephalopathy, 11 | 3 | Sep 1, 2023 |
| Developmental and epileptic encephalopathy, 13 | 1 | Mar 14, 2024 |
| Developmental and epileptic encephalopathy, 16 | 2 | Mar 14, 2024 |
| Developmental and epileptic encephalopathy, 17 | 1 | Nov 28, 2023 |
| Developmental and epileptic encephalopathy, 18 | 4 | Mar 14, 2024 |
| Developmental and epileptic encephalopathy, 24 | 1 | May 25, 2023 |
| Developmental and epileptic encephalopathy, 29 | 1 | Sep 1, 2023 |
| Developmental and epileptic encephalopathy, 37 | 1 | Sep 1, 2023 |
| Developmental and epileptic encephalopathy, 4 | 1 | May 25, 2023 |
| Developmental and epileptic encephalopathy, 42 | 6 | Mar 14, 2024 |
| Developmental and epileptic encephalopathy, 43 | 1 | Nov 28, 2023 |
| Developmental and epileptic encephalopathy, 5 | 1 | Feb 21, 2023 |
| Developmental and epileptic encephalopathy, 54 | 2 | May 25, 2023 |
| Developmental and epileptic encephalopathy, 7 | 1 | May 6, 2022 |
| Developmental and epileptic encephalopathy, 8 | 1 | Mar 14, 2024 |
| Developmental and epileptic encephalopathy, 9 | 1 | Nov 28, 2023 |
| Developmental delay with autism spectrum disorder and gait instability | 1 | May 25, 2023 |
| Developmental delay with or without dysmorphic facies and autism | 1 | May 25, 2023 |
| DiGeorge syndrome | 3 | May 25, 2023 |
| Diabetes-deafness syndrome maternally transmitted | 1 | Sep 1, 2023 |
| Dihydropyrimidine dehydrogenase deficiency | 1 | Jul 11, 2023 |
| Dilated cardiomyopathy 1E | 1 | Mar 14, 2024 |
| Dilated cardiomyopathy 1G | 2 | Dec 7, 2021 |
| Dilated cardiomyopathy 1S | 1 | Mar 3, 2022 |
| Duchenne muscular dystrophy | 3 | May 25, 2023 |
| Early Infantile Epileptic Encephalopathy, Autosomal Dominant | 2 | Dec 6, 2022 |
| Early-onset myopathy with fatal cardiomyopathy | 2 | Dec 7, 2021 |
| Ehlers-Danlos syndrome, cardiac valvular type | 2 | Mar 14, 2024 |
| Ehlers-danlos syndrome, arthrochalasia type, 2 | 2 | Mar 14, 2024 |
| Encephalopathy due to GLUT1 deficiency | 1 | Feb 21, 2023 |
| Epilepsy | 1 | Dec 6, 2022 |
| Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders | 1 | Jul 11, 2023 |
| Epilepsy, childhood absence, susceptibility to, 5 | 1 | Nov 28, 2023 |
| Epilepsy, childhood absence, susceptibility to, 6 | 3 | May 25, 2023 |
| Epilepsy, familial focal, with variable foci 1 | 1 | May 25, 2023 |
| Epilepsy, familial focal, with variable foci 2 | 1 | May 25, 2023 |
| Epilepsy, familial focal, with variable foci 3 | 2 | May 25, 2023 |
| Epilepsy, idiopathic generalized, susceptibility to, 16 | 2 | Mar 14, 2024 |
| Epilepsy, idiopathic generalized, susceptibility to, 9 | 2 | May 25, 2023 |
| Epilepsy, progressive myoclonic, 1B | 1 | May 25, 2023 |
| Episodic ataxia type 2 | 13 | Mar 21, 2024 |
| Episodic ataxia type 5 | 1 | May 25, 2023 |
| Episodic ataxia, type 9 | 1 | Jul 11, 2023 |
| Epsilon-trimethyllysine hydroxylase deficiency | 1 | May 25, 2023 |
| Exudative vitreoretinopathy 1 | 1 | Mar 14, 2024 |
| FG syndrome | 1 | Jul 11, 2023 |
| Familial focal epilepsy with variable foci | 1 | May 25, 2023 |
| Familial hemiplegic migraine | 1 | Aug 18, 2022 |
| Familial hypocalciuric hypercalcemia 1 | 1 | May 25, 2023 |
| Familial infantile myoclonic epilepsy | 2 | Mar 14, 2024 |
| Familial medullary thyroid carcinoma | 2 | May 25, 2023 |
| Familial steroid-resistant nephrotic syndrome with sensorineural deafness | 1 | Sep 1, 2023 |
| Fanconi renotubular syndrome 1 | 1 | Mar 14, 2024 |
| Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement | 3 | Nov 28, 2023 |
| GATAD2B-Related Neurodevelopmental Disorder | 1 | Sep 1, 2023 |
| GRIN2B-Related Disorder | 2 | May 25, 2023 |
| GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder | 1 | May 25, 2023 |
| Gaucher disease perinatal lethal | 1 | Mar 14, 2024 |
| Generalized epilepsy with febrile seizures plus, type 10 | 1 | May 25, 2023 |
| Generalized epilepsy-paroxysmal dyskinesia syndrome | 2 | Mar 14, 2024 |
| Gillespie syndrome | 1 | Jul 11, 2023 |
| Glutamate formiminotransferase deficiency | 1 | Mar 14, 2024 |
| Glutaric aciduria, type 1 | 1 | Nov 28, 2023 |
| Gorlin syndrome | 2 | Feb 21, 2023 |
| Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 | 1 | Jul 11, 2023 |
| Greig cephalopolysyndactyly syndrome | 1 | May 25, 2023 |
| HECW2-Related Disorder | 2 | Mar 14, 2024 |
| HNRNPU-Related Disorder | 3 | Apr 18, 2023 |
| Hearing loss, autosomal dominant 75 | 1 | May 25, 2023 |
| Hearing loss, autosomal dominant 82 | 1 | Jul 11, 2023 |
| Hearing loss, autosomal recessive 112 | 1 | Mar 14, 2024 |
| Hereditary breast ovarian cancer syndrome | 1 | Dec 6, 2022 |
| Hereditary hemochromatosis | 2 | Mar 14, 2024 |
| Hereditary spastic paraplegia 30 | 4 | Mar 14, 2024 |
| Hereditary spastic paraplegia 3A | 1 | Mar 14, 2024 |
| Hereditary spastic paraplegia 4 | 7 | May 25, 2023 |
| Hereditary spastic paraplegia 45 | 1 | Nov 28, 2023 |
| Hereditary spastic paraplegia 49 | 1 | May 25, 2023 |
| Hereditary spastic paraplegia 51 | 1 | Mar 14, 2024 |
| Hereditary spastic paraplegia 63 | 1 | May 25, 2023 |
| Hereditary spastic paraplegia 7 | 2 | Nov 28, 2023 |
| Holoprosencephaly 5 | 1 | May 25, 2023 |
| Holoprosencephaly 7 | 1 | Feb 21, 2023 |
| Houge-Janssens syndrome 2 | 3 | Mar 14, 2024 |
| Hydrocephalus, nonsyndromic, autosomal recessive 1 | 1 | Feb 21, 2023 |
| Hypercholesterolemia, autosomal dominant, type B | 1 | Nov 28, 2023 |
| Hyperimmunoglobulin D with periodic fever | 1 | May 25, 2023 |
| Hypertrophic cardiomyopathy | 1 | Sep 1, 2023 |
| Hypertrophic cardiomyopathy 1 | 1 | Mar 3, 2022 |
| Hypertrophic cardiomyopathy 9 | 2 | Dec 7, 2021 |
| Hypochondrogenesis | 1 | Sep 1, 2023 |
| Hypomyelinating leukodystrophy 6 | 1 | Nov 28, 2023 |
| Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 | 3 | May 25, 2023 |
| Ichthyosis vulgaris | 2 | Mar 21, 2024 |
| Ichthyosis, hystrix-like, with hearing loss | 1 | Jul 11, 2023 |
| Idiopathic generalized epilepsy | 1 | May 25, 2023 |
| Intellectual developmental disorder 62 | 4 | Mar 21, 2024 |
| Intellectual developmental disorder with autism and macrocephaly | 1 | May 25, 2023 |
| Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies | 1 | Mar 14, 2024 |
| Intellectual developmental disorder with hypertelorism and distinctive facies | 1 | May 25, 2023 |
| Intellectual developmental disorder with seizures and language delay | 1 | Jul 14, 2022 |
| Intellectual disability | 7 | May 25, 2023 |
| Intellectual disability, X-linked 102 | 3 | Mar 14, 2024 |
| Intellectual disability, X-linked 106 | 1 | May 25, 2023 |
| Intellectual disability, X-linked 50 | 1 | Jul 11, 2023 |
| Intellectual disability, X-linked 58 | 1 | Dec 7, 2021 |
| Intellectual disability, X-linked 97 | 2 | Dec 7, 2021 |
| Intellectual disability, X-linked 99 | 2 | Mar 14, 2024 |
| Intellectual disability, X-linked 99, syndromic, female-restricted | 3 | Mar 14, 2024 |
| Intellectual disability, autosomal dominant 1 | 1 | Apr 18, 2023 |
| Intellectual disability, autosomal dominant 13 | 2 | May 25, 2023 |
| Intellectual disability, autosomal dominant 22 | 4 | Mar 14, 2024 |
| Intellectual disability, autosomal dominant 24 | 1 | Dec 7, 2021 |
| Intellectual disability, autosomal dominant 29 | 3 | Mar 14, 2024 |
| Intellectual disability, autosomal dominant 30 | 1 | May 25, 2023 |
| Intellectual disability, autosomal dominant 39 | 7 | Mar 14, 2024 |
| Intellectual disability, autosomal dominant 40 | 3 | Nov 28, 2023 |
| Intellectual disability, autosomal dominant 41 | 1 | Sep 1, 2023 |
| Intellectual disability, autosomal dominant 43 | 1 | May 25, 2023 |
| Intellectual disability, autosomal dominant 47 | 2 | Nov 28, 2023 |
| Intellectual disability, autosomal dominant 5 | 8 | Mar 14, 2024 |
| Intellectual disability, autosomal dominant 52 | 6 | Nov 28, 2023 |
| Intellectual disability, autosomal dominant 6 | 1 | May 25, 2023 |
| Intellectual disability, autosomal dominant 9 | 2 | Mar 14, 2024 |
| Intellectual disability, autosomal recessive 1 | 1 | Dec 7, 2021 |
| Intellectual disability, autosomal recessive 13 | 1 | Apr 18, 2023 |
| Intellectual disability, autosomal recessive 18 | 3 | May 25, 2023 |
| Intellectual disability, autosomal recessive 3 | 1 | Dec 7, 2021 |
| Intellectual disability, autosomal recessive 45 | 1 | Sep 1, 2023 |
| Intellectual disability, autosomal recessive 47 | 1 | Mar 14, 2024 |
| Intellectual disability, autosomal recessive 53 | 1 | May 25, 2023 |
| Intellectual disability, autosomal recessive 58 | 3 | May 25, 2023 |
| Intellectual disability, autosomal recessive 65 | 2 | May 25, 2023 |
| Intellectual disability-epilepsy-extrapyramidal syndrome | 1 | Dec 7, 2021 |
| Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency | 8 | Mar 14, 2024 |
| Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome | 5 | May 25, 2023 |
| Intellectual disability-severe speech delay-mild dysmorphism syndrome | 2 | May 25, 2023 |
| Joubert syndrome 17 | 2 | Mar 14, 2024 |
| Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 1 | Sep 1, 2023 |
| KAT6A-related neurodevelopmental disorder with multiple anomalies | 2 | Mar 14, 2024 |
| KBG syndrome | 1 | May 25, 2023 |
| KCNQ2-Related Disorders | 1 | May 25, 2023 |
| KIF1A-related disorder | 1 | Apr 18, 2023 |
| Kabuki syndrome 1 | 1 | May 25, 2023 |
| Kleefstra syndrome 2 | 1 | May 25, 2023 |
| Kniest dysplasia | 1 | Sep 1, 2023 |
| Knobloch syndrome 1 | 1 | Sep 1, 2023 |
| Knuckle pads, deafness AND leukonychia syndrome | 1 | Jul 11, 2023 |
| Koolen-de Vries syndrome | 2 | May 25, 2023 |
| Landau-Kleffner syndrome | 2 | Mar 21, 2024 |
| Left ventricular noncompaction 1 | 1 | Mar 3, 2022 |
| Leigh Syndrome (mtDNA mutation) | 1 | Sep 1, 2023 |
| Lennox-Gastaut syndrome | 3 | May 25, 2023 |
| Lethal polymalformative syndrome, Boissel type | 1 | May 25, 2023 |
| Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome | 1 | Mar 14, 2024 |
| Leukoencephalopathy with vanishing white matter 5 | 1 | Sep 1, 2023 |
| Lewy body dementia | 1 | Jul 11, 2023 |
| Liang-Wang syndrome | 1 | Mar 14, 2024 |
| Lipoic acid synthetase deficiency | 2 | May 25, 2023 |
| Lissencephaly due to LIS1 mutation | 2 | Mar 14, 2024 |
| Long QT syndrome | 2 | May 25, 2023 |
| Long QT syndrome 3 | 1 | Mar 14, 2024 |
| Luscan-Lumish syndrome | 2 | Jul 11, 2023 |
| MED12-related intellectual disability syndrome | 1 | Jul 11, 2023 |
| MED13L-Related Disorder | 2 | Nov 28, 2023 |
| MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA | 1 | Jul 14, 2022 |
| MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB | 1 | Jul 14, 2022 |
| MYH7-Related Disorders | 1 | Mar 3, 2022 |
| MYH7-related skeletal myopathy | 1 | Mar 3, 2022 |
| Macrocephaly | 1 | May 25, 2023 |
| Macrocephaly-autism syndrome | 4 | Mar 14, 2024 |
| Malan overgrowth syndrome | 1 | Mar 14, 2024 |
| Marshall-Smith syndrome | 1 | Mar 14, 2024 |
| Megalencephalic leukoencephalopathy with subcortical cysts | 2 | Jul 12, 2022 |
| Menke-Hennekam syndrome 1 | 2 | Mar 14, 2024 |
| Metaphyseal anadysplasia 2 | 1 | Mar 14, 2024 |
| Mevalonic aciduria | 1 | May 25, 2023 |
| Microcephaly | 1 | Dec 6, 2022 |
| Microcephaly 1, primary, autosomal recessive | 1 | Mar 22, 2022 |
| Microcephaly 17, primary, autosomal recessive | 1 | May 25, 2023 |
| Microcephaly 18, primary, autosomal dominant | 1 | Mar 14, 2024 |
| Microcephaly 3, primary, autosomal recessive | 1 | Mar 22, 2022 |
| Microcephaly 4, primary, autosomal recessive | 3 | Mar 14, 2024 |
| Microcephaly 7, primary, autosomal recessive | 1 | May 25, 2023 |
| Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability | 1 | Mar 14, 2024 |
| Migraine, familial hemiplegic, 1 | 13 | Mar 21, 2024 |
| Migraine, familial hemiplegic, 2 | 2 | Mar 14, 2024 |
| Mitochondrial DNA deletion syndrome with progressive myopathy | 1 | Mar 14, 2024 |
| Mitochondrial DNA depletion syndrome 4b | 2 | Nov 28, 2023 |
| Mowat-Wilson syndrome | 1 | Jul 11, 2023 |
| Mullegama-Klein-Martinez syndrome | 1 | Sep 1, 2023 |
| Multiple endocrine neoplasia, type 2 | 1 | May 25, 2023 |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 | 1 | Mar 22, 2022 |
| Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 | 1 | Mar 22, 2022 |
| Mutilating keratoderma | 1 | Jul 11, 2023 |
| Myoclonic-astatic epilepsy | 15 | Jul 11, 2023 |
| Myoclonic-atonic epilepsy | 2 | Mar 14, 2024 |
| Myoclonus, familial, 2 | 1 | Mar 14, 2024 |
| Myopathy, myofibrillar, 9, with early respiratory failure | 2 | Dec 7, 2021 |
| Myopathy, myosin storage, autosomal recessive | 1 | Mar 3, 2022 |
| Myosin storage myopathy | 1 | Mar 3, 2022 |
| NPRL3-Related Disorder | 1 | Mar 14, 2024 |
| Neurodevelopmental disorder | 4 | Sep 1, 2023 |
| Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures | 1 | Nov 28, 2023 |
| Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities | 1 | Mar 14, 2024 |
| Neurodevelopmental disorder with involuntary movements | 1 | Nov 28, 2023 |
| Neurodevelopmental disorder with language impairment and behavioral abnormalities | 1 | Mar 14, 2024 |
| Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA | 1 | Jul 11, 2023 |
| Neurodevelopmental, jaw, eye, and digital syndrome | 1 | Mar 1, 2022 |
| Neurofibromatosis, type 1 | 1 | May 25, 2023 |
| Neurofibromatosis-Noonan syndrome | 1 | May 25, 2023 |
| Neuronal ceroid lipofuscinosis 13 | 1 | Jul 11, 2023 |
| Neuronal ceroid lipofuscinosis 2 | 1 | Mar 14, 2024 |
| Neuronal ceroid lipofuscinosis 8 | 1 | Dec 7, 2021 |
| Neuropathy, hereditary sensory, type 1D | 1 | Mar 14, 2024 |
| Neuropathy, hereditary sensory, type 2C | 4 | Mar 14, 2024 |
| Nicolaides-Baraitser syndrome | 1 | May 25, 2023 |
| Niemann-Pick disease, type A | 1 | Dec 7, 2021 |
| Non-ketotic hyperglycinemia | 3 | Mar 14, 2024 |
| Non-syndromic X-linked intellectual disability | 1 | May 6, 2022 |
| Non-syndromic intellectual disability | 4 | May 25, 2023 |
| Noonan syndrome 1 | 1 | May 25, 2023 |
| OPHN1-related disorder | 1 | Mar 14, 2024 |
| Odonto-onycho-dermal dysplasia | 1 | May 25, 2023 |
| Osteogenesis imperfecta with normal sclerae, dominant form | 2 | Mar 14, 2024 |
| Osteogenesis imperfecta, perinatal lethal | 2 | Mar 14, 2024 |
| Osteopathia striata with cranial sclerosis | 1 | Mar 14, 2024 |
| Ovarioleukodystrophy | 1 | Aug 18, 2022 |
| PIK3CA-related overgrowth | 1 | Mar 14, 2024 |
| PMM2-congenital disorder of glycosylation | 1 | May 25, 2023 |
| PMP22-RAI1 contiguous gene duplication syndrome | 1 | May 25, 2023 |
| POLG-related disorder | 1 | May 25, 2023 |
| PPP2R1A-related disorder | 1 | Mar 14, 2024 |
| PTCH1-Related Disorder | 1 | May 6, 2022 |
| PTEN hamartoma tumor syndrome | 7 | Mar 14, 2024 |
| Palmoplantar keratoderma-deafness syndrome | 1 | Jul 11, 2023 |
| Peroxisome biogenesis disorder 10A (Zellweger) | 1 | Sep 1, 2023 |
| Pierpont syndrome | 1 | Sep 1, 2023 |
| Pituitary hormone deficiency, combined, 2 | 1 | Jul 11, 2023 |
| Platyspondylic dysplasia, Torrance type | 1 | Sep 1, 2023 |
| Pontocerebellar hypoplasia type 9 | 1 | May 25, 2023 |
| Pontocerebellar hypoplasia, type 11 | 2 | May 25, 2023 |
| Porokeratosis 3, disseminated superficial actinic type | 1 | May 25, 2023 |
| Prader-Willi syndrome | 1 | May 25, 2023 |
| Prader-Willi-like syndrome | 2 | Nov 28, 2023 |
| Primary ciliary dyskinesia 15 | 1 | Jul 11, 2023 |
| Primary ciliary dyskinesia 22 | 1 | Mar 14, 2024 |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 | 2 | Nov 28, 2023 |
| Progressive sclerosing poliodystrophy | 2 | Nov 28, 2023 |
| Proteus-like syndrome | 1 | Aug 31, 2023 |
| Pyridoxine-dependent epilepsy | 1 | Jul 11, 2023 |
| Renpenning syndrome | 1 | May 25, 2023 |
| Rett syndrome | 1 | Mar 14, 2024 |
| Rett syndrome, congenital variant | 3 | Mar 14, 2024 |
| Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome | 1 | Jul 14, 2022 |
| Rubinstein-Taybi syndrome due to CREBBP mutations | 3 | Mar 21, 2024 |
| Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | 1 | Dec 7, 2021 |
| SATB2 associated disorder | 2 | Nov 28, 2023 |
| SCN2A-related disorder | 1 | Jul 11, 2023 |
| SCN2A-related generalized epilepsy with febrile seizures plus | 4 | Sep 1, 2023 |
| SET-Related Disorder | 1 | Sep 1, 2023 |
| SETD5-Related Disorder | 1 | Dec 6, 2022 |
| SHANK3-Related Disorder | 1 | Sep 1, 2023 |
| SIN3A-related intellectual disability syndrome due to a point mutation | 1 | Nov 28, 2023 |
| SLC6A1-Related Disorder | 3 | Sep 1, 2023 |
| SLC6A1-related neurodevelopmental disorder | 1 | Dec 6, 2022 |
| SPATA5-related neurodevelopmental disorder | 2 | Mar 14, 2024 |
| SUDDEN INFANT DEATH SYNDROME | 1 | Mar 14, 2024 |
| SYNE4-related hearing loss | 1 | Dec 6, 2022 |
| SYNGAP1-Related Disorder | 3 | Mar 14, 2024 |
| SYNGAP1-related developmental and epileptic encephalopathy | 1 | Mar 14, 2024 |
| SchC6pf-Schulz-Passarge syndrome | 1 | May 25, 2023 |
| Schaaf-Yang syndrome | 2 | Nov 28, 2023 |
| Schinzel-Giedion syndrome | 2 | Mar 14, 2024 |
| Schizophrenia | 1 | May 25, 2023 |
| Seckel syndrome 1 | 1 | May 25, 2023 |
| Seizures, benign familial infantile, 3 | 5 | Sep 1, 2023 |
| Seizures, benign familial infantile, 5 | 1 | Mar 14, 2024 |
| Seizures, benign familial neonatal, 1 | 1 | May 6, 2022 |
| Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | 2 | Nov 28, 2023 |
| Severe X-linked mitochondrial encephalomyopathy | 1 | Sep 1, 2023 |
| Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome | 3 | Mar 14, 2024 |
| Shashi-Pena syndrome | 1 | Aug 18, 2022 |
| Sick sinus syndrome 1 | 1 | Mar 14, 2024 |
| Sifrim-Hitz-Weiss syndrome | 1 | Dec 6, 2022 |
| Smith-Magenis syndrome | 1 | May 25, 2023 |
| Sotos syndrome | 2 | Nov 28, 2023 |
| Spastic paraplegia, intellectual disability, nystagmus, and obesity | 1 | Feb 21, 2023 |
| Spinal muscular atrophy with lower extremity predominance | 1 | May 25, 2023 |
| Spinocerebellar ataxia type 15/16 | 1 | Jul 11, 2023 |
| Spinocerebellar ataxia type 40 | 1 | Feb 21, 2023 |
| Spinocerebellar ataxia type 6 | 11 | Mar 14, 2024 |
| Spondyloepimetaphyseal dysplasia, Strudwick type | 1 | Sep 1, 2023 |
| Spondyloepiphyseal dysplasia congenita | 1 | Sep 1, 2023 |
| Spondyloepiphyseal dysplasia with metatarsal shortening | 1 | Sep 1, 2023 |
| Sterol carrier protein 2 deficiency | 1 | Dec 7, 2021 |
| Stickler syndrome type 1 | 1 | Sep 1, 2023 |
| Symmetrical dyschromatosis of extremities | 1 | May 25, 2023 |
| Syndromic X-linked intellectual disability Claes-Jensen type | 7 | Nov 28, 2023 |
| Syndromic X-linked intellectual disability Raymond type | 1 | Feb 21, 2023 |
| Syndromic X-linked intellectual disability Shashi type | 1 | Aug 18, 2022 |
| Syndromic intellectual disability | 2 | May 25, 2023 |
| TARP syndrome | 1 | May 25, 2023 |
| TRIO-Related Disorder | 1 | Mar 14, 2024 |
| TRIOBP-related hearing loss | 1 | Dec 6, 2022 |
| TUBB3-Related Disorder | 1 | Dec 7, 2021 |
| Tatton-Brown-Rahman overgrowth syndrome | 8 | Nov 28, 2023 |
| Telangiectasia, hereditary hemorrhagic, type 1 | 1 | Mar 14, 2024 |
| Telangiectasia, hereditary hemorrhagic, type 2 | 1 | Feb 21, 2023 |
| Tetralogy of Fallot | 2 | May 25, 2023 |
| Thrombocytopenia 1 | 1 | Mar 14, 2024 |
| Tibial muscular dystrophy | 2 | Dec 7, 2021 |
| Tooth agenesis, selective, 4 | 1 | May 25, 2023 |
| Torsion dystonia 4 | 1 | Nov 28, 2023 |
| Unverricht-Lundborg syndrome | 1 | Jul 12, 2022 |
| Vanishing white matter disease | 1 | Aug 18, 2022 |
| Velocardiofacial syndrome | 3 | May 25, 2023 |
| Ventriculomegaly and arthrogryposis | 1 | Feb 21, 2023 |
| WDFY3-related disorder | 1 | Mar 14, 2024 |
| West syndrome | 3 | May 25, 2023 |
| Wiedemann-Steiner syndrome | 5 | Jul 11, 2023 |
| Wiskott-Aldrich syndrome | 1 | Mar 14, 2024 |
| X-linked complex neurodevelopmental disorder | 1 | May 6, 2022 |
| X-linked intellectual disability with marfanoid habitus | 1 | Jul 11, 2023 |
| X-linked intellectual disability, Cantagrel type | 1 | May 25, 2023 |
| X-linked intellectual disability-cerebellar hypoplasia syndrome | 2 | Sep 1, 2023 |
| X-linked severe congenital neutropenia | 1 | Mar 14, 2024 |
| ZBTB18-Related Disorder | 3 | May 25, 2023 |
| ZTTK syndrome | 1 | May 25, 2023 |
| beta Thalassemia | 1 | May 25, 2023 |
| not provided | 105 | Mar 21, 2024 |
