| 11p partial monosomy syndrome | 1 | Aug 2, 2024 |
| 3M syndrome 2 | 1 | Aug 2, 2024 |
| 8q24.3 microdeletion syndrome | 1 | Oct 23, 2024 |
| Actin accumulation myopathy | 2 | Mar 26, 2024 |
| Adrenoleukodystrophy | 1 | Oct 23, 2024 |
| Adult hypophosphatasia | 1 | Jul 3, 2024 |
| Alkaptonuria | 1 | Oct 23, 2024 |
| Alpha-1-antitrypsin deficiency | 2 | Mar 26, 2024 |
| Amyloidosis, hereditary systemic 1 | 3 | Oct 23, 2024 |
| Anemia, nonspherocytic hemolytic, due to G6PD deficiency | 2 | Oct 23, 2024 |
| Aniridia 1 | 1 | Aug 2, 2024 |
| Aortic aneurysm, familial thoracic 4 | 1 | Aug 2, 2024 |
| Arthrogryposis, distal, type 2B2 | 1 | Oct 23, 2024 |
| Ataxia-telangiectasia syndrome | 2 | Oct 23, 2024 |
| Atrial septal defect 3 | 1 | Oct 23, 2024 |
| Autism, susceptibility to, 17 | 1 | Feb 9, 2024 |
| Autosomal dominant Robinow syndrome 2 | 1 | Mar 26, 2024 |
| Autosomal dominant distal renal tubular acidosis | 1 | Aug 2, 2024 |
| Autosomal dominant nonsyndromic hearing loss 22 | 1 | Feb 9, 2024 |
| Autosomal dominant optic atrophy classic form | 2 | Feb 9, 2024 |
| Autosomal recessive hypophosphatemic bone disease | 1 | Oct 23, 2024 |
| Autosomal recessive limb-girdle muscular dystrophy type 2A | 1 | Oct 23, 2024 |
| Autosomal recessive limb-girdle muscular dystrophy type 2J | 1 | Oct 23, 2024 |
| Autosomal recessive limb-girdle muscular dystrophy type 2L | 1 | Oct 23, 2024 |
| Autosomal recessive spinocerebellar ataxia 15 | 1 | Feb 9, 2024 |
| Axenfeld-Rieger syndrome type 3 | 1 | Oct 23, 2024 |
| BAFopathy | 1 | Jul 3, 2024 |
| BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 | 1 | Oct 23, 2024 |
| Bernard Soulier syndrome | 1 | Oct 23, 2024 |
| Birt-Hogg-Dube syndrome 1 | 1 | Oct 23, 2024 |
| Blepharophimosis, ptosis, and epicanthus inversus syndrome | 1 | Oct 23, 2024 |
| Breast-ovarian cancer, familial, susceptibility to, 1 | 22 | Oct 23, 2024 |
| Breast-ovarian cancer, familial, susceptibility to, 2 | 2 | Oct 23, 2024 |
| Breast-ovarian cancer, familial, susceptibility to, 3 | 1 | Feb 9, 2024 |
| Breast-ovarian cancer, familial, susceptibility to, 5 | 1 | Feb 9, 2024 |
| Brugada syndrome 1 | 2 | Mar 26, 2024 |
| CHARGE syndrome | 1 | Oct 23, 2024 |
| CK syndrome | 1 | Jan 19, 2024 |
| COACH syndrome 2 | 1 | Apr 25, 2024 |
| Cardiac anomalies - developmental delay - facial dysmorphism syndrome | 1 | Oct 23, 2024 |
| Cardiomyopathy, familial restrictive, 1 | 1 | Oct 23, 2024 |
| Cardiomyopathy, familial restrictive, 3 | 1 | Oct 23, 2024 |
| Catecholaminergic polymorphic ventricular tachycardia 1 | 3 | Oct 23, 2024 |
| Central core myopathy | 1 | Oct 23, 2024 |
| Charcot-Marie-Tooth Disease, axonal, type 2GG | 1 | Jul 3, 2024 |
| Charcot-Marie-Tooth disease X-linked dominant 1 | 1 | Feb 9, 2024 |
| Charcot-Marie-Tooth disease axonal type 2T | 2 | Apr 25, 2024 |
| Charcot-Marie-Tooth disease axonal type 2Z | 2 | Oct 23, 2024 |
| Charcot-Marie-Tooth disease type 1B | 1 | Jul 3, 2024 |
| Charcot-Marie-Tooth disease type 1E | 1 | Apr 25, 2024 |
| Charcot-Marie-Tooth disease type 2A2 | 1 | Oct 23, 2024 |
| Charcot-Marie-Tooth disease, type IA | 1 | Apr 25, 2024 |
| Cholestasis, intrahepatic, of pregnancy, 3 | 1 | Feb 9, 2024 |
| Chromosome 2q32-q33 deletion syndrome | 2 | Apr 25, 2024 |
| Cohen-Gibson syndrome | 1 | Apr 25, 2024 |
| Coloboma, ocular, autosomal dominant | 1 | Aug 2, 2024 |
| Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2 | 1 | Feb 9, 2024 |
| Congenital afibrinogenemia | 1 | Aug 2, 2024 |
| Congenital muscular dystrophy due to LMNA mutation | 1 | Apr 25, 2024 |
| Congenital muscular dystrophy due to integrin alpha-7 deficiency | 1 | Mar 26, 2024 |
| Congenital muscular hypertrophy-cerebral syndrome | 1 | Feb 9, 2024 |
| Congenital myasthenic syndrome 16 | 1 | Jul 3, 2024 |
| Congenital myopathy 18 | 1 | Oct 23, 2024 |
| Congenital myopathy 22A, classic | 1 | Jul 3, 2024 |
| Congenital myopathy 22B, severe fetal | 1 | Jul 3, 2024 |
| Congenital myopathy 2c, severe infantile, autosomal dominant | 1 | Mar 26, 2024 |
| Congenital myotonia, autosomal dominant form | 1 | Oct 23, 2024 |
| Conotruncal heart malformations | 1 | Jul 3, 2024 |
| Cornelia de Lange syndrome 5 | 1 | Oct 23, 2024 |
| Costello syndrome | 1 | Aug 2, 2024 |
| Cowden syndrome 1 | 1 | Jul 3, 2024 |
| DYRK1A-related intellectual disability syndrome | 1 | Feb 9, 2024 |
| Dejerine-Sottas disease | 1 | Apr 25, 2024 |
| Dermatitis, atopic, 2 | 1 | Oct 23, 2024 |
| Desmin-related myofibrillar myopathy | 1 | Aug 2, 2024 |
| Developmental and epileptic encephalopathy 6B | 2 | Apr 25, 2024 |
| Developmental and epileptic encephalopathy 94 | 1 | Feb 9, 2024 |
| Developmental and epileptic encephalopathy, 11 | 2 | Oct 23, 2024 |
| Developmental and epileptic encephalopathy, 17 | 2 | Oct 23, 2024 |
| Developmental and epileptic encephalopathy, 24 | 1 | Oct 23, 2024 |
| Developmental and epileptic encephalopathy, 4 | 2 | Oct 23, 2024 |
| Developmental and epileptic encephalopathy, 43 | 1 | Jul 3, 2024 |
| Developmental and epileptic encephalopathy, 52 | 1 | Oct 23, 2024 |
| Developmental and epileptic encephalopathy, 85, with or without midline brain defects | 1 | Feb 9, 2024 |
| Developmental delay and seizures with or without movement abnormalities | 1 | Oct 23, 2024 |
| Developmental delay with dysmorphic facies and dental anomalies | 2 | Apr 25, 2024 |
| Developmental delay with or without intellectual impairment or behavioral abnormalities | 1 | Jul 3, 2024 |
| Dilated cardiomyopathy 1A | 4 | Oct 23, 2024 |
| Dilated cardiomyopathy 1C | 1 | Oct 23, 2024 |
| Dilated cardiomyopathy 1D | 2 | Oct 23, 2024 |
| Dilated cardiomyopathy 1EE | 2 | Oct 23, 2024 |
| Dilated cardiomyopathy 1FF | 1 | Jul 3, 2024 |
| Dilated cardiomyopathy 1G | 4 | Oct 23, 2024 |
| Dilated cardiomyopathy 1KK | 1 | Oct 23, 2024 |
| Dilated cardiomyopathy 1S | 1 | Jul 3, 2024 |
| Dilated cardiomyopathy 2A | 2 | Oct 23, 2024 |
| Dystonia 28, childhood-onset | 1 | Oct 23, 2024 |
| Early-onset myopathy with fatal cardiomyopathy | 1 | Oct 23, 2024 |
| Ehlers-Danlos syndrome due to tenascin-X deficiency | 1 | Jul 3, 2024 |
| Ehlers-Danlos syndrome, arthrochalasia type | 2 | Apr 25, 2024 |
| Emery-Dreifuss muscular dystrophy 2, autosomal dominant | 1 | Apr 25, 2024 |
| Epilepsy, familial focal, with variable foci 3 | 1 | Oct 23, 2024 |
| Episodic ataxia, type 9 | 1 | Oct 23, 2024 |
| Erythrokeratodermia variabilis et progressiva 6 | 1 | Oct 23, 2024 |
| Familial Mediterranean fever | 1 | Oct 23, 2024 |
| Familial Mediterranean fever, autosomal dominant | 2 | Oct 23, 2024 |
| Familial adenomatous polyposis 2 | 1 | Oct 23, 2024 |
| Familial cancer of breast | 4 | Oct 23, 2024 |
| Familial dysfibrinogenemia | 2 | Oct 23, 2024 |
| Familial hyperkalemic periodic paralysis | 3 | Oct 23, 2024 |
| Familial hypokalemia-hypomagnesemia | 2 | Oct 23, 2024 |
| Familial visceral amyloidosis, Ostertag type | 1 | Oct 23, 2024 |
| Fanconi anemia complementation group N | 1 | Feb 9, 2024 |
| Fliedner-Zweier syndrome | 1 | Feb 9, 2024 |
| Foveal hypoplasia 1 | 1 | Aug 2, 2024 |
| Generalized epilepsy with febrile seizures plus, type 10 | 1 | Oct 23, 2024 |
| Generalized epilepsy with febrile seizures plus, type 2 | 2 | Apr 25, 2024 |
| Global developmental delay with or without impaired intellectual development | 1 | Oct 23, 2024 |
| Glycogen storage disease due to phosphoglycerate kinase 1 deficiency | 1 | Oct 23, 2024 |
| Glycogen storage disease, type V | 2 | Oct 23, 2024 |
| Griscelli syndrome type 1 | 2 | Mar 26, 2024 |
| Guillain-Barre syndrome, familial | 1 | Apr 25, 2024 |
| Hearing loss, autosomal dominant 82 | 1 | Oct 23, 2024 |
| Heimler syndrome 2 | 2 | Mar 26, 2024 |
| Hemochromatosis type 1 | 2 | Oct 23, 2024 |
| Hemochromatosis type 2A | 2 | Oct 23, 2024 |
| Hereditary diffuse gastric adenocarcinoma | 1 | Oct 23, 2024 |
| Hereditary factor VIII deficiency disease | 1 | Oct 23, 2024 |
| Hereditary liability to pressure palsies | 1 | Apr 25, 2024 |
| Hereditary sensory and autonomic neuropathy type 7 | 1 | Mar 26, 2024 |
| Hereditary spastic paraplegia 47 | 1 | Feb 9, 2024 |
| Hereditary spherocytosis type 1 | 2 | Oct 23, 2024 |
| Hereditary spherocytosis type 2 | 1 | Oct 23, 2024 |
| Heterotaxy, visceral, 5, autosomal | 1 | Oct 23, 2024 |
| Hypercholesterolemia, autosomal dominant, type B | 4 | Oct 23, 2024 |
| Hypercholesterolemia, familial, 1 | 4 | Oct 23, 2024 |
| Hyperinsulinemic hypoglycemia, familial, 1 | 1 | Oct 23, 2024 |
| Hypertrophic cardiomyopathy 1 | 6 | Oct 23, 2024 |
| Hypertrophic cardiomyopathy 12 | 1 | Oct 23, 2024 |
| Hypertrophic cardiomyopathy 14 | 2 | Oct 23, 2024 |
| Hypertrophic cardiomyopathy 2 | 1 | Oct 23, 2024 |
| Hypertrophic cardiomyopathy 26 | 2 | Oct 23, 2024 |
| Hypertrophic cardiomyopathy 4 | 4 | Oct 23, 2024 |
| Hypertrophic cardiomyopathy 7 | 1 | Oct 23, 2024 |
| Hypertrophic cardiomyopathy 9 | 1 | Apr 25, 2024 |
| Hypoalphalipoproteinemia, primary, 2 | 1 | Apr 25, 2024 |
| Hypogonadotropic hypogonadism 2 with or without anosmia | 1 | Jul 3, 2024 |
| Hypokalemic periodic paralysis, type 2 | 1 | Jul 3, 2024 |
| Hypomyelinating leukodystrophy 6 | 1 | Apr 25, 2024 |
| Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 | 1 | Jan 25, 2024 |
| Ichthyosis vulgaris | 1 | Oct 23, 2024 |
| Immunodeficiency, common variable, 2 | 2 | Jul 3, 2024 |
| Intellectual developmental disorder with autism and macrocephaly | 1 | Oct 23, 2024 |
| Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities | 1 | Apr 25, 2024 |
| Intellectual developmental disorder with seizures and language delay | 1 | Aug 2, 2024 |
| Intellectual developmental disorder, autosomal dominant 63, with macrocephaly | 1 | Oct 23, 2024 |
| Intellectual developmental disorder, autosomal dominant 64 | 1 | Oct 23, 2024 |
| Intellectual developmental disorder, autosomal dominant 68 | 1 | Oct 23, 2024 |
| Intellectual disability, X-linked 1 | 1 | Feb 9, 2024 |
| Intellectual disability, X-linked 102 | 1 | Oct 23, 2024 |
| Intellectual disability, X-linked 21 | 1 | Jul 3, 2024 |
| Intellectual disability, X-linked 30 | 1 | Jul 3, 2024 |
| Intellectual disability, X-linked 9 | 1 | Feb 9, 2024 |
| Intellectual disability, X-linked syndromic, Turner type | 1 | Oct 23, 2024 |
| Intellectual disability, autosomal dominant 13 | 1 | Oct 23, 2024 |
| Intellectual disability, autosomal dominant 24 | 1 | Jul 3, 2024 |
| Intellectual disability, autosomal dominant 29 | 2 | Oct 23, 2024 |
| Intellectual disability, autosomal dominant 43 | 1 | Jul 3, 2024 |
| Intellectual disability, autosomal dominant 46 | 1 | Feb 9, 2024 |
| Intellectual disability, autosomal dominant 50 | 1 | Jul 3, 2024 |
| Intellectual disability, autosomal dominant 51 | 1 | Apr 25, 2024 |
| Intellectual disability, autosomal dominant 52 | 1 | Apr 25, 2024 |
| Intellectual disability, autosomal dominant 53 | 1 | Jul 3, 2024 |
| Intellectual disability, autosomal dominant 8 | 1 | Oct 23, 2024 |
| Intellectual disability, autosomal recessive 27 | 1 | Aug 2, 2024 |
| Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency | 1 | Apr 25, 2024 |
| Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome | 1 | Oct 23, 2024 |
| Intellectual disability-severe speech delay-mild dysmorphism syndrome | 1 | Oct 23, 2024 |
| Irido-corneo-trabecular dysgenesis | 1 | Aug 2, 2024 |
| Isolated optic nerve hypoplasia | 1 | Aug 2, 2024 |
| Joubert syndrome 9 | 1 | Apr 25, 2024 |
| Kabuki syndrome 1 | 1 | Oct 23, 2024 |
| Kartagener syndrome | 1 | Oct 23, 2024 |
| King Denborough syndrome | 1 | Oct 23, 2024 |
| Kohlschutter-Tonz syndrome-like | 1 | Apr 25, 2024 |
| Lamb-Shaffer syndrome | 2 | Apr 25, 2024 |
| Larsen syndrome | 1 | Apr 25, 2024 |
| Left ventricular noncompaction 10 | 2 | Oct 23, 2024 |
| Left ventricular noncompaction 7 | 1 | Oct 23, 2024 |
| Left ventricular noncompaction 8 | 1 | Oct 23, 2024 |
| Li-Fraumeni syndrome 1 | 1 | Oct 23, 2024 |
| Li-Fraumeni syndrome 2 | 1 | Apr 25, 2024 |
| Lissencephaly type 1 due to doublecortin gene mutation | 1 | Apr 25, 2024 |
| Long QT syndrome 3 | 2 | Oct 23, 2024 |
| Low phospholipid associated cholelithiasis | 1 | Feb 9, 2024 |
| Lynch syndrome 1 | 4 | Aug 2, 2024 |
| Lynch syndrome 4 | 1 | Oct 23, 2024 |
| Lynch syndrome 5 | 2 | Oct 23, 2024 |
| MASA syndrome | 1 | Oct 23, 2024 |
| MYH7-related skeletal myopathy | 1 | Oct 23, 2024 |
| Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss | 1 | Aug 2, 2024 |
| Macrothrombocytopenia, isolated, 1, autosomal dominant | 1 | Jul 3, 2024 |
| Malan overgrowth syndrome | 1 | Oct 23, 2024 |
| Malignant hyperthermia, susceptibility to, 1 | 1 | Oct 23, 2024 |
| Maturity-onset diabetes of the young type 2 | 2 | Oct 23, 2024 |
| Meckel syndrome, type 6 | 1 | Apr 25, 2024 |
| Meester-Loeys syndrome | 1 | Oct 23, 2024 |
| Melanoma, cutaneous malignant, susceptibility to, 8 | 1 | Oct 23, 2024 |
| Menke-Hennekam syndrome 1 | 2 | Oct 23, 2024 |
| Menke-Hennekam syndrome 2 | 3 | Oct 23, 2024 |
| Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome | 2 | Oct 23, 2024 |
| Migraine, familial hemiplegic, 3 | 2 | Apr 25, 2024 |
| Myoclonic-atonic epilepsy | 1 | Oct 23, 2024 |
| Myopathy, myofibrillar, 9, with early respiratory failure | 1 | Oct 23, 2024 |
| Myosin storage myopathy | 1 | Oct 23, 2024 |
| Nemaline myopathy 2 | 2 | Apr 25, 2024 |
| Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction | 1 | Oct 23, 2024 |
| Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies | 2 | Aug 2, 2024 |
| Neurodevelopmental disorder with hypotonia and brain abnormalities | 2 | Aug 2, 2024 |
| Neurodevelopmental disorder with involuntary movements | 2 | Oct 23, 2024 |
| Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures | 1 | Oct 23, 2024 |
| Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities | 1 | Jul 3, 2024 |
| Neurodevelopmental disorder with speech impairment and with or without seizures | 1 | Jul 3, 2024 |
| Neurofibromatosis, type 1 | 1 | Oct 23, 2024 |
| Neuronopathy, distal hereditary motor, autosomal recessive 8 | 2 | Mar 26, 2024 |
| Nicolaides-Baraitser syndrome | 1 | Feb 9, 2024 |
| Noonan syndrome 1 | 4 | Oct 23, 2024 |
| Noonan syndrome 12 | 1 | Oct 23, 2024 |
| Noonan syndrome 3 | 1 | Oct 23, 2024 |
| Noonan syndrome 5 | 1 | Oct 23, 2024 |
| Nystagmus 1, congenital, X-linked | 1 | Jul 3, 2024 |
| Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy | 1 | Feb 9, 2024 |
| Ornithine carbamoyltransferase deficiency | 1 | Aug 2, 2024 |
| Osteogenesis imperfecta type I | 1 | Apr 25, 2024 |
| Osteogenesis imperfecta type III | 1 | Apr 25, 2024 |
| Osteogenesis imperfecta with normal sclerae, dominant form | 1 | Apr 25, 2024 |
| Osteogenesis imperfecta, perinatal lethal | 1 | Apr 25, 2024 |
| PHGDH deficiency | 2 | Apr 25, 2024 |
| Pancreatic cancer, susceptibility to, 3 | 1 | Feb 9, 2024 |
| Paramyotonia congenita of Von Eulenburg | 1 | Jul 3, 2024 |
| Parenti-mignot neurodevelopmental syndrome | 1 | Jul 3, 2024 |
| Paroxysmal extreme pain disorder | 1 | Jul 3, 2024 |
| Periventricular nodular heterotopia 9 | 1 | Apr 25, 2024 |
| Peroxisome biogenesis disorder 4A (Zellweger) | 2 | Mar 26, 2024 |
| Peroxisome biogenesis disorder 4B | 2 | Mar 26, 2024 |
| Phelan-McDermid syndrome | 1 | Jul 3, 2024 |
| Phenylketonuria | 4 | Oct 23, 2024 |
| Polycystic kidney disease 2 | 1 | Oct 23, 2024 |
| Polycystic kidney disease, adult type | 2 | Mar 26, 2024 |
| Pontocerebellar hypoplasia type 2A | 1 | Mar 26, 2024 |
| Potassium-aggravated myotonia | 1 | Jul 3, 2024 |
| Primary erythromelalgia | 1 | Jul 3, 2024 |
| Progressive scapulohumeroperoneal distal myopathy | 1 | Mar 26, 2024 |
| Radio-Tartaglia syndrome | 1 | Oct 23, 2024 |
| Rauch-Steindl syndrome | 1 | Oct 23, 2024 |
| Renal carnitine transport defect | 2 | Feb 9, 2024 |
| Renpenning syndrome | 1 | Oct 23, 2024 |
| Retinitis pigmentosa 3 | 1 | Apr 25, 2024 |
| Rett syndrome | 1 | Feb 9, 2024 |
| Rothmund-Thomson syndrome type 2 | 1 | Oct 23, 2024 |
| Roussy-Lévy syndrome | 1 | Apr 25, 2024 |
| Rubinstein-Taybi syndrome due to CREBBP mutations | 4 | Oct 23, 2024 |
| Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | 3 | Oct 23, 2024 |
| Schaaf-Yang syndrome | 1 | Jul 3, 2024 |
| Schwannomatosis 2 | 1 | Mar 26, 2024 |
| Seizures, benign familial infantile, 3 | 1 | Oct 23, 2024 |
| Severe myoclonic epilepsy in infancy | 3 | Oct 23, 2024 |
| Shashi-Pena syndrome | 1 | Oct 23, 2024 |
| Smith-McCort dysplasia 2 | 1 | Jan 25, 2024 |
| Snijders Blok-Campeau syndrome | 1 | Mar 26, 2024 |
| Sotos syndrome | 1 | Feb 9, 2024 |
| Spastic paraplegia 52, autosomal recessive | 1 | Jul 3, 2024 |
| Spastic paraplegia, intellectual disability, nystagmus, and obesity | 1 | Apr 25, 2024 |
| Spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant | 1 | Apr 25, 2024 |
| Spinocerebellar ataxia 48 | 2 | Oct 23, 2024 |
| Spondylocarpotarsal synostosis syndrome | 1 | Oct 23, 2024 |
| Sulfite oxidase deficiency | 1 | Jul 3, 2024 |
| Syndromic X-linked intellectual disability 94 | 1 | Oct 23, 2024 |
| Syndromic X-linked intellectual disability Najm type | 1 | Oct 23, 2024 |
| Tatton-Brown-Rahman overgrowth syndrome | 1 | Oct 23, 2024 |
| Torsion dystonia 6 | 1 | Aug 2, 2024 |
| Upshaw-Schulman syndrome | 1 | Mar 26, 2024 |
| Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome | 2 | Jul 3, 2024 |
| Ventriculomegaly and arthrogryposis | 1 | Apr 25, 2024 |
| Von Hippel-Lindau syndrome | 1 | Oct 23, 2024 |
| Weiss-Kruszka syndrome | 1 | Oct 23, 2024 |
| Wiedemann-Steiner syndrome | 1 | Jul 3, 2024 |
| X-linked complicated corpus callosum dysgenesis | 1 | Oct 23, 2024 |
| X-linked hydrocephalus syndrome | 1 | Oct 23, 2024 |
| X-linked intellectual disability-short stature-overweight syndrome | 1 | Jul 3, 2024 |
| X-linked sideroblastic anemia with ataxia | 1 | Apr 25, 2024 |
| X-linked spondyloepimetaphyseal dysplasia | 1 | Oct 23, 2024 |
| ZTTK syndrome | 1 | Mar 26, 2024 |
| von Willebrand disease type 1 | 2 | Oct 23, 2024 |
| von Willebrand disease type 2 | 1 | Oct 23, 2024 |
| von Willebrand disease type 3 | 1 | Oct 23, 2024 |
