| 46,XY sex reversal 11 | 1 | Mar 8, 2022 |
| ACCES syndrome | 1 | Oct 31, 2024 |
| ADNP-related disorder | 1 | Oct 31, 2024 |
| AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome | 1 | Apr 6, 2022 |
| Aarskog syndrome | 4 | Oct 31, 2024 |
| Adams-Oliver syndrome 5 | 1 | Oct 31, 2024 |
| Adrenoleukodystrophy | 1 | Sep 8, 2023 |
| Aicardi-Goutieres syndrome 7 | 1 | Oct 31, 2024 |
| Al Kaissi syndrome | 1 | Jan 30, 2024 |
| Alternating hemiplegia of childhood 1 | 1 | Oct 31, 2024 |
| Amyotrophic lateral sclerosis type 2, juvenile | 2 | Jan 19, 2023 |
| Amyotrophic lateral sclerosis, susceptibility to, 25 | 1 | Mar 8, 2022 |
| Aortic aneurysm, familial thoracic 6 | 1 | Jan 30, 2024 |
| Aortic valve disease 1 | 1 | Oct 31, 2024 |
| Arrhythmogenic right ventricular dysplasia 10 | 1 | Jan 30, 2024 |
| Arrhythmogenic right ventricular dysplasia 9 | 2 | Oct 31, 2024 |
| Ataxia-telangiectasia syndrome | 3 | Oct 31, 2024 |
| Au-Kline syndrome | 1 | Mar 9, 2022 |
| Auriculocondylar syndrome 1 | 1 | Jan 30, 2024 |
| Autism, susceptibility to, 17 | 1 | Mar 8, 2022 |
| Autosomal dominant limb-girdle muscular dystrophy type 1F | 1 | Apr 6, 2022 |
| Autosomal recessive limb-girdle muscular dystrophy type R18 | 2 | Sep 8, 2023 |
| Autosomal recessive nonsyndromic hearing loss 84A | 1 | Oct 31, 2024 |
| Bartter disease type 1 | 1 | Mar 8, 2022 |
| Beck-Fahrner syndrome | 2 | Oct 31, 2024 |
| Blepharocheilodontic syndrome 2 | 1 | Mar 8, 2022 |
| Breast-ovarian cancer, familial, susceptibility to, 2 | 5 | Nov 4, 2024 |
| Breast-ovarian cancer, familial, susceptibility to, 5 | 1 | Oct 31, 2024 |
| CBL-related disorder | 1 | Jan 30, 2024 |
| CEP290-related ciliopathy | 2 | Jan 30, 2024 |
| CHARGE syndrome | 3 | Sep 8, 2023 |
| CK syndrome | 1 | Nov 30, 2022 |
| Café-au-lait macules with pulmonary stenosis | 1 | Oct 31, 2024 |
| Cardiac anomalies - developmental delay - facial dysmorphism syndrome | 1 | Mar 8, 2022 |
| Cardiomyopathy, dilated, 2E | 1 | Sep 13, 2022 |
| Cataract 23 | 1 | Apr 8, 2022 |
| Child syndrome | 1 | Nov 30, 2022 |
| Childhood onset GLUT1 deficiency syndrome 2 | 1 | Sep 8, 2023 |
| Chopra-Amiel-Gordon syndrome | 1 | Jan 30, 2024 |
| Choroidal dystrophy, central areolar 2 | 1 | Oct 31, 2024 |
| Chromosome 2q32-q33 deletion syndrome | 3 | Oct 31, 2024 |
| Coffin-Lowry syndrome | 2 | Jan 19, 2023 |
| Coffin-Siris syndrome 12 | 3 | Sep 8, 2023 |
| Coffin-Siris syndrome 6 | 2 | Jan 30, 2024 |
| Cognitive impairment with or without cerebellar ataxia | 1 | Jan 19, 2023 |
| Cohen syndrome | 2 | Sep 8, 2023 |
| Complex cortical dysplasia with other brain malformations 5 | 1 | Oct 31, 2024 |
| Congenital absence of salivary gland | 1 | Nov 30, 2022 |
| Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay | 1 | Nov 30, 2022 |
| Congenital disorder of glycosylation, type Iw, autosomal dominant | 1 | Jan 19, 2023 |
| Congenital muscular hypertrophy-cerebral syndrome | 1 | Mar 8, 2022 |
| Cornelia de Lange syndrome 1 | 1 | Mar 9, 2022 |
| Cornelia de Lange syndrome 3 | 1 | Jan 19, 2023 |
| Cowden syndrome 1 | 3 | Sep 8, 2023 |
| Creatine transporter deficiency | 1 | Mar 9, 2022 |
| DYRK1A-related intellectual disability syndrome | 1 | Nov 30, 2022 |
| DeSanto-Shinawi syndrome due to WAC point mutation | 3 | Jan 30, 2024 |
| Deafness-lymphedema-leukemia syndrome | 1 | Oct 31, 2024 |
| Dent disease type 1 | 1 | Jan 19, 2023 |
| Dermatitis, atopic, 2 | 1 | Mar 8, 2022 |
| Developmental and epileptic encephalopathy 108 | 1 | Oct 31, 2024 |
| Developmental and epileptic encephalopathy 91 | 1 | Mar 8, 2022 |
| Developmental and epileptic encephalopathy 94 | 1 | Jan 19, 2023 |
| Developmental and epileptic encephalopathy, 11 | 1 | Oct 31, 2024 |
| Developmental and epileptic encephalopathy, 19 | 1 | Nov 30, 2022 |
| Developmental and epileptic encephalopathy, 26 | 1 | Jan 30, 2024 |
| Developmental and epileptic encephalopathy, 42 | 1 | Nov 30, 2022 |
| Developmental and epileptic encephalopathy, 56 | 2 | Jun 13, 2022 |
| Developmental and epileptic encephalopathy, 67 | 1 | Jan 19, 2023 |
| Developmental and epileptic encephalopathy, 69 | 1 | Oct 31, 2024 |
| Developmental and epileptic encephalopathy, 7 | 1 | Sep 8, 2023 |
| Developmental and epileptic encephalopathy, 74 | 1 | Jan 30, 2024 |
| Developmental and epileptic encephalopathy, 85, with or without midline brain defects | 2 | Jan 19, 2023 |
| Developmental and epileptic encephalopathy, 9 | 1 | Nov 30, 2022 |
| Developmental delay with or without dysmorphic facies and autism | 1 | Sep 8, 2023 |
| Developmental delay with variable intellectual impairment and behavioral abnormalities | 1 | Jan 30, 2024 |
| Developmental delay, impaired speech, and behavioral abnormalities | 1 | Jan 19, 2023 |
| Dilated cardiomyopathy 1G | 1 | Jan 30, 2024 |
| Dilated cardiomyopathy 1Z | 1 | Sep 8, 2023 |
| Distal myopathy with posterior leg and anterior hand involvement | 1 | Sep 13, 2022 |
| Ehlers-Danlos syndrome, classic type, 2 | 1 | Jan 19, 2023 |
| Ehlers-Danlos syndrome, type 4 | 1 | Sep 8, 2023 |
| Emery-Dreifuss muscular dystrophy 5, autosomal dominant | 1 | Jan 19, 2023 |
| Encephalopathy due to GLUT1 deficiency | 1 | Sep 8, 2023 |
| Encephalopathy, acute, infection-induced, susceptibility to, 9 | 1 | Sep 13, 2022 |
| Epilepsy, familial focal, with variable foci 1 | 2 | Oct 31, 2024 |
| Epilepsy, idiopathic generalized, susceptibility to, 12 | 1 | Sep 8, 2023 |
| Epilepsy, idiopathic generalized, susceptibility to, 13 | 1 | Nov 30, 2022 |
| Epilepsy, progressive myoclonic, 11 | 1 | Mar 8, 2022 |
| Episodic ataxia type 2 | 1 | Nov 30, 2022 |
| Episodic ataxia, type 9 | 1 | Oct 31, 2024 |
| Epsilon-trimethyllysine hydroxylase deficiency | 1 | Jun 13, 2022 |
| FG syndrome 2 | 1 | Mar 8, 2022 |
| FRAXE | 1 | Sep 13, 2022 |
| Familial adenomatous polyposis 1 | 1 | Nov 30, 2022 |
| Familial cancer of breast | 4 | Nov 4, 2024 |
| Familial hypokalemia-hypomagnesemia | 2 | Mar 8, 2022 |
| Familial medullary thyroid carcinoma | 1 | Nov 30, 2022 |
| Familial prostate cancer | 1 | Nov 4, 2024 |
| Fanconi anemia complementation group A | 2 | Nov 30, 2022 |
| Fanconi anemia complementation group D1 | 1 | Nov 4, 2024 |
| Fanconi anemia complementation group N | 1 | Oct 31, 2024 |
| Febrile seizures, familial, 2 | 1 | Sep 8, 2023 |
| Febrile seizures, familial, 8 | 1 | Jan 30, 2024 |
| Floating-Harbor syndrome | 3 | Oct 31, 2024 |
| Genitourinary and/or brain malformation syndrome | 1 | Sep 8, 2023 |
| Glioma susceptibility 3 | 1 | Nov 4, 2024 |
| Glycogen storage disease due to phosphoglycerate kinase 1 deficiency | 1 | Jan 19, 2023 |
| Glycogen storage disease, type V | 2 | Sep 8, 2023 |
| Heimler syndrome 1 | 1 | Jan 30, 2024 |
| Hemorrhage, intracerebral, susceptibility to | 2 | Nov 30, 2022 |
| Hennekam lymphangiectasia-lymphedema syndrome 2 | 2 | Oct 31, 2024 |
| Hereditary cryohydrocytosis with reduced stomatin | 1 | Sep 8, 2023 |
| Hereditary spastic paraplegia 10 | 1 | Mar 8, 2022 |
| Hereditary spastic paraplegia 49 | 1 | Sep 8, 2023 |
| Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 | 1 | Oct 31, 2024 |
| Holoprosencephaly 12 with or without pancreatic agenesis | 1 | Oct 31, 2024 |
| Holoprosencephaly 3 | 1 | Nov 4, 2024 |
| Holoprosencephaly 5 | 1 | Mar 8, 2022 |
| Houge-Janssens syndrome 3 | 1 | Oct 31, 2024 |
| Hypercholesterolemia, autosomal dominant, type B | 2 | Sep 8, 2023 |
| Hypercholesterolemia, familial, 1 | 1 | Jan 19, 2023 |
| Hypertrophic cardiomyopathy 13 | 1 | Sep 8, 2023 |
| Hypertrophic cardiomyopathy 15 | 1 | Sep 13, 2022 |
| Hypertrophic cardiomyopathy 26 | 1 | Sep 13, 2022 |
| Hypertrophic cardiomyopathy 9 | 1 | Jan 30, 2024 |
| Hypothyroidism, congenital, nongoitrous, 9 | 1 | Mar 8, 2022 |
| Hypotonia, ataxia, and delayed development syndrome | 1 | Mar 8, 2022 |
| Hypotrichosis 14 | 1 | Oct 31, 2024 |
| Immunodeficiency 15a | 1 | Nov 30, 2022 |
| Infantile cerebellar-retinal degeneration | 1 | Oct 31, 2024 |
| Infantile-onset ascending hereditary spastic paralysis | 2 | Jan 19, 2023 |
| Intellectual developmental disorder 62 | 1 | Jan 19, 2023 |
| Intellectual developmental disorder with autism and macrocephaly | 3 | Sep 8, 2023 |
| Intellectual developmental disorder with autistic features and language delay, with or without seizures | 1 | Sep 8, 2023 |
| Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities | 2 | Nov 30, 2022 |
| Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold | 1 | Nov 30, 2022 |
| Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies | 1 | Jan 30, 2024 |
| Intellectual developmental disorder with or without epilepsy or cerebellar ataxia | 1 | Sep 8, 2023 |
| Intellectual developmental disorder with seizures and language delay | 2 | Nov 30, 2022 |
| Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities | 1 | Oct 31, 2024 |
| Intellectual developmental disorder, X-linked, syndromic, Hackmann-Di Donato type | 1 | Jun 13, 2022 |
| Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies | 1 | Sep 8, 2023 |
| Intellectual developmental disorder, autosomal dominant 65 | 1 | Mar 8, 2022 |
| Intellectual developmental disorder, autosomal dominant 70 | 1 | Oct 31, 2024 |
| Intellectual disability, X-linked 101 | 1 | Mar 8, 2022 |
| Intellectual disability, X-linked 102 | 1 | Nov 30, 2022 |
| Intellectual disability, X-linked 103 | 1 | Nov 30, 2022 |
| Intellectual disability, X-linked 107 | 1 | Sep 8, 2023 |
| Intellectual disability, X-linked 19 | 1 | Jan 19, 2023 |
| Intellectual disability, X-linked 99, syndromic, female-restricted | 2 | Jan 30, 2024 |
| Intellectual disability, X-linked syndromic, Turner type | 1 | Jun 13, 2022 |
| Intellectual disability, X-linked, syndromic, Bain type | 2 | Sep 8, 2023 |
| Intellectual disability, X-linked, syndromic, Houge type | 1 | Oct 31, 2024 |
| Intellectual disability, autosomal dominant 14 | 1 | Mar 9, 2022 |
| Intellectual disability, autosomal dominant 16 | 1 | Jun 13, 2022 |
| Intellectual disability, autosomal dominant 20 | 2 | Jan 30, 2024 |
| Intellectual disability, autosomal dominant 22 | 3 | Sep 8, 2023 |
| Intellectual disability, autosomal dominant 24 | 1 | Oct 31, 2024 |
| Intellectual disability, autosomal dominant 29 | 1 | Mar 9, 2022 |
| Intellectual disability, autosomal dominant 42 | 1 | Mar 8, 2022 |
| Intellectual disability, autosomal dominant 45 | 1 | Jan 30, 2024 |
| Intellectual disability, autosomal dominant 46 | 1 | Sep 8, 2023 |
| Intellectual disability, autosomal dominant 5 | 2 | Jan 19, 2023 |
| Intellectual disability, autosomal dominant 50 | 2 | Oct 31, 2024 |
| Intellectual disability, autosomal dominant 52 | 3 | Oct 31, 2024 |
| Intellectual disability, autosomal dominant 56 | 1 | Jan 19, 2023 |
| Intellectual disability, autosomal dominant 57 | 1 | Sep 8, 2023 |
| Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency | 4 | Jan 19, 2023 |
| Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome | 2 | Jan 30, 2024 |
| Intellectual disability-severe speech delay-mild dysmorphism syndrome | 1 | Oct 31, 2024 |
| Intellectual disability-strabismus syndrome | 2 | Nov 30, 2022 |
| Interstitial lung disease specific to childhood | 1 | Oct 31, 2024 |
| Joubert syndrome 17 | 1 | Nov 30, 2022 |
| Joubert syndrome 21 | 1 | Nov 30, 2022 |
| Junctional epidermolysis bullosa with pyloric atresia | 2 | Oct 31, 2024 |
| Juvenile myelomonocytic leukemia | 1 | Oct 31, 2024 |
| Juvenile primary lateral sclerosis | 2 | Jan 19, 2023 |
| KBG syndrome | 2 | Nov 30, 2022 |
| Kabuki syndrome 1 | 5 | Oct 31, 2024 |
| Kabuki syndrome 2 | 1 | Sep 13, 2022 |
| Kleefstra syndrome 1 | 2 | Nov 30, 2022 |
| Kleefstra syndrome 2 | 1 | Sep 8, 2023 |
| Kostmann syndrome | 2 | Nov 30, 2022 |
| LEOPARD syndrome 1 | 3 | Jan 30, 2024 |
| Landau-Kleffner syndrome | 1 | Oct 31, 2024 |
| Left ventricular noncompaction 8 | 1 | Oct 31, 2024 |
| Lethal congenital contracture syndrome 11 | 1 | Jan 30, 2024 |
| Levy-Hollister syndrome | 1 | Nov 30, 2022 |
| Li-Fraumeni syndrome 1 | 1 | Nov 30, 2022 |
| Lipodystrophy, partial, acquired, susceptibility to | 1 | Sep 8, 2023 |
| Lissencephaly due to LIS1 mutation | 1 | Nov 30, 2022 |
| Long QT syndrome 1 | 1 | Mar 8, 2022 |
| Long QT syndrome 3 | 1 | Nov 30, 2022 |
| Luscan-Lumish syndrome | 2 | Oct 31, 2024 |
| Lynch syndrome 5 | 1 | Nov 30, 2022 |
| MAGED1-related neurodevelopmental delay | 1 | Nov 4, 2024 |
| MAP4K4-related neurodevelopmental delay | 1 | Nov 4, 2024 |
| Macrocephaly-autism syndrome | 3 | Sep 8, 2023 |
| Macrocephaly-developmental delay syndrome | 2 | Sep 13, 2022 |
| Malan overgrowth syndrome | 2 | Sep 8, 2023 |
| Malignant hyperthermia, susceptibility to, 1 | 1 | Oct 31, 2024 |
| Malignant tumor of prostate | 2 | Mar 8, 2022 |
| Mandibulofacial dysostosis-microcephaly syndrome | 2 | Oct 31, 2024 |
| Marshall-Smith syndrome | 1 | Jan 19, 2023 |
| Medulloblastoma | 3 | Nov 4, 2024 |
| Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 | 1 | Mar 8, 2022 |
| Menke-Hennekam syndrome 2 | 1 | Mar 8, 2022 |
| Metachromatic leukodystrophy | 1 | Jan 30, 2024 |
| Methylmalonic acidemia with homocystinuria, type cblX | 1 | Sep 13, 2022 |
| Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | 1 | Jan 19, 2023 |
| Microcephaly 18, primary, autosomal dominant | 1 | Sep 8, 2023 |
| Microcephaly 19, primary, autosomal recessive | 1 | Oct 31, 2024 |
| Microcephaly 27, primary, autosomal dominant | 1 | Sep 8, 2023 |
| Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome | 1 | Apr 6, 2022 |
| Microphthalmia, isolated, with coloboma 5 | 1 | Nov 4, 2024 |
| Migraine, familial hemiplegic, 1 | 1 | Nov 30, 2022 |
| Mitochondrial complex V (ATP synthase) deficiency nuclear type 2 | 1 | Sep 8, 2023 |
| Mowat-Wilson syndrome | 1 | Oct 31, 2024 |
| Mucopolysaccharidosis type 7 | 1 | Jan 19, 2023 |
| Mucopolysaccharidosis, MPS-II | 1 | Sep 8, 2023 |
| Mucopolysaccharidosis, MPS-III-A | 1 | Oct 31, 2024 |
| Multiple endocrine neoplasia type 2A | 1 | Nov 30, 2022 |
| Multiple endocrine neoplasia type 2B | 1 | Nov 30, 2022 |
| Myoclonic epilepsy of Lafora 1 | 1 | Oct 31, 2024 |
| Myoclonic-astatic epilepsy | 1 | Sep 13, 2022 |
| Myoclonic-atonic epilepsy | 2 | Oct 31, 2024 |
| Myoclonus, intractable, neonatal | 1 | Mar 8, 2022 |
| Myofibrillar myopathy 5 | 1 | Sep 13, 2022 |
| Myopathy, proximal, and ophthalmoplegia | 1 | Apr 6, 2022 |
| Neurodegeneration with ataxia and late-onset optic atrophy | 1 | Mar 8, 2022 |
| Neurodevelopmental delay | 2 | Jan 19, 2023 |
| Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter | 1 | Jan 30, 2024 |
| Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies | 2 | Oct 31, 2024 |
| Neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly | 2 | Sep 8, 2023 |
| Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities | 2 | Sep 8, 2023 |
| Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures | 1 | Oct 31, 2024 |
| Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities | 1 | Sep 8, 2023 |
| Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures | 1 | Jan 30, 2024 |
| Neurodevelopmental disorder with involuntary movements | 1 | Jan 19, 2023 |
| Neurodevelopmental disorder with microcephaly and dysmorphic facies | 1 | Oct 31, 2024 |
| Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities | 2 | Nov 30, 2022 |
| Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features | 1 | Jan 19, 2023 |
| Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures | 1 | Oct 31, 2024 |
| Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | 1 | Sep 8, 2023 |
| Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures | 1 | Jan 19, 2023 |
| Neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies | 1 | Oct 31, 2024 |
| Neurodevelopmental disorder with speech impairment and dysmorphic facies | 1 | Jan 30, 2024 |
| Neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus | 2 | Jan 19, 2023 |
| Neurofibromatosis, familial spinal | 1 | Oct 31, 2024 |
| Neurofibromatosis, type 1 | 1 | Oct 31, 2024 |
| Neurofibromatosis-Noonan syndrome | 1 | Oct 31, 2024 |
| Neuronopathy, distal hereditary motor, type 2B | 1 | Oct 31, 2024 |
| Nizon-Isidor syndrome | 2 | Oct 31, 2024 |
| Noonan syndrome 1 | 2 | Oct 31, 2024 |
| Noonan syndrome 4 | 1 | Jan 30, 2024 |
| Noonan syndrome 8 | 1 | Jan 30, 2024 |
| O'Donnell-Luria-Rodan syndrome | 1 | Jan 19, 2023 |
| Ophthalmoplegia, external, with rib and vertebral anomalies | 1 | Oct 31, 2024 |
| Optic atrophy 11 | 1 | Nov 30, 2022 |
| Optic atrophy 9 | 1 | Oct 31, 2024 |
| Ornithine carbamoyltransferase deficiency | 1 | Nov 30, 2022 |
| Orofaciodigital syndrome type 6 | 1 | Nov 30, 2022 |
| Osteoporosis, childhood- or juvenile-onset, with developmental delay | 1 | Oct 31, 2024 |
| PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome | 1 | Jun 13, 2022 |
| Pancreatic cancer, susceptibility to, 3 | 1 | Oct 31, 2024 |
| Parenti-mignot neurodevelopmental syndrome | 1 | Jan 19, 2023 |
| Patterned macular dystrophy 1 | 1 | Oct 31, 2024 |
| Periventricular nodular heterotopia 6 | 1 | Mar 8, 2022 |
| Periventricular nodular heterotopia 7 | 1 | Oct 31, 2024 |
| Peroxisome biogenesis disorder 1A (Zellweger) | 1 | Jan 30, 2024 |
| Peroxisome biogenesis disorder 1B | 1 | Jan 30, 2024 |
| Phelan-McDermid syndrome | 1 | Nov 30, 2022 |
| Phenylketonuria | 2 | Jan 19, 2023 |
| Pheochromocytoma | 1 | Nov 30, 2022 |
| Pigmentary retinal dystrophy | 1 | Oct 31, 2024 |
| Pilarowski-Bjornsson syndrome | 1 | Nov 30, 2022 |
| Pitt-Hopkins syndrome | 2 | Oct 31, 2024 |
| Polyglucosan body myopathy type 1 | 1 | Mar 9, 2022 |
| Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal | 1 | Mar 8, 2022 |
| Porencephaly 2 | 3 | Nov 30, 2022 |
| Prader-Willi syndrome | 1 | Mar 8, 2022 |
| Primary hyperoxaluria, type I | 1 | Mar 8, 2022 |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 | 1 | Sep 8, 2023 |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 | 1 | Jan 19, 2023 |
| Proline dehydrogenase deficiency | 1 | Sep 13, 2022 |
| Proximal myopathy with extrapyramidal signs | 1 | Sep 13, 2022 |
| Rabin-Pappas syndrome | 1 | Oct 31, 2024 |
| Radio-Tartaglia syndrome | 2 | Jan 30, 2024 |
| Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome | 1 | Oct 31, 2024 |
| Retinitis pigmentosa 19 | 2 | Oct 31, 2024 |
| Retinitis pigmentosa 7 | 1 | Oct 31, 2024 |
| Rett syndrome | 4 | Jan 30, 2024 |
| Ritscher-Schinzel syndrome 1 | 1 | Nov 30, 2022 |
| Ritscher-Schinzel syndrome 2 | 1 | Mar 9, 2022 |
| Rubinstein-Taybi syndrome due to CREBBP mutations | 1 | Jan 19, 2023 |
| STAT3-related early-onset multisystem autoimmune disease | 1 | Oct 31, 2024 |
| Schaaf-Yang syndrome | 1 | Mar 9, 2022 |
| Seizures, benign familial infantile, 3 | 1 | Oct 31, 2024 |
| Seizures, benign familial infantile, 5 | 1 | Oct 31, 2024 |
| Seizures, benign familial neonatal, 1 | 1 | Sep 8, 2023 |
| Selective pituitary resistance to thyroid hormone | 1 | Mar 9, 2022 |
| Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome | 2 | Oct 31, 2024 |
| Short QT syndrome type 2 | 1 | Mar 8, 2022 |
| Short stature with nonspecific skeletal abnormalities | 1 | Sep 8, 2023 |
| Short-rib thoracic dysplasia 11 with or without polydactyly | 1 | Jan 30, 2024 |
| Sifrim-Hitz-Weiss syndrome | 1 | Nov 30, 2022 |
| Singleton-Merten syndrome 1 | 1 | Oct 31, 2024 |
| Snijders Blok-Campeau syndrome | 3 | Jan 30, 2024 |
| Solitary median maxillary central incisor syndrome | 1 | Nov 4, 2024 |
| Sotos syndrome | 2 | Jan 30, 2024 |
| Spinocerebellar ataxia 47 | 1 | Mar 9, 2022 |
| Spinocerebellar ataxia type 13 | 1 | Sep 13, 2022 |
| Spinocerebellar ataxia type 29 | 1 | Sep 8, 2023 |
| Spinocerebellar ataxia type 41 | 1 | Nov 30, 2022 |
| Spinocerebellar ataxia type 6 | 1 | Nov 30, 2022 |
| Split hand-foot malformation 6 | 1 | Jan 19, 2023 |
| Stickler syndrome, type I, nonsyndromic ocular | 1 | Oct 31, 2024 |
| Stuve-Wiedemann syndrome | 1 | Mar 8, 2022 |
| Syndromic X-linked intellectual disability 94 | 1 | Mar 9, 2022 |
| Syndromic X-linked intellectual disability Claes-Jensen type | 2 | Sep 8, 2023 |
| Syndromic X-linked intellectual disability Lubs type | 1 | Nov 30, 2022 |
| Syndromic X-linked intellectual disability Najm type | 3 | Oct 31, 2024 |
| Syndromic X-linked intellectual disability Raymond type | 1 | Jun 13, 2022 |
| TUBA1A-associated tubulinopathy | 2 | Mar 8, 2022 |
| Tall stature-scoliosis-macrodactyly of the great toes syndrome | 1 | Sep 8, 2023 |
| Tay-Sachs disease | 2 | Sep 8, 2023 |
| Tenorio syndrome | 1 | Nov 30, 2022 |
| Timothy syndrome | 1 | Jan 30, 2024 |
| Trichothiodystrophy 6, nonphotosensitive | 1 | Sep 8, 2023 |
| Ulnar-mammary syndrome | 1 | Mar 8, 2022 |
| Van Maldergem syndrome 2 | 2 | Oct 31, 2024 |
| Ververi-Brady syndrome | 1 | Mar 8, 2022 |
| Vissers-Bodmer syndrome | 1 | Oct 31, 2024 |
| Vitelliform macular dystrophy 3 | 1 | Oct 31, 2024 |
| Weaver syndrome | 1 | Oct 31, 2024 |
| Weiss-Kruszka syndrome | 2 | Nov 30, 2022 |
| White-Kernohan syndrome | 1 | Sep 8, 2023 |
| Wiedemann-Steiner syndrome | 3 | Oct 31, 2024 |
| Wilms tumor 1 | 3 | Nov 4, 2024 |
| X-linked Alport syndrome | 1 | Oct 31, 2024 |
| X-linked Opitz G/BBB syndrome | 1 | Apr 6, 2022 |
| X-linked central congenital hypothyroidism with late-onset testicular enlargement | 1 | Jan 30, 2024 |
| X-linked intellectual disability-psychosis-macroorchidism syndrome | 2 | Oct 11, 2023 |
| X-linked lissencephaly with abnormal genitalia | 1 | Oct 31, 2024 |
| not provided | 44 | Oct 31, 2024 |
| von Willebrand disease type 1 | 1 | Mar 9, 2022 |
| von Willebrand disease type 2 | 2 | Mar 8, 2022 |
