| 2-aminoadipic 2-oxoadipic aciduria | 1 | Nov 6, 2024 |
| 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia | 2 | Nov 6, 2024 |
| ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder | 3 | Nov 6, 2024 |
| AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome | 1 | Nov 6, 2024 |
| ALDH18A1-related de Barsy syndrome | 1 | Nov 6, 2024 |
| Aarskog syndrome | 2 | Nov 6, 2024 |
| Adams-Oliver syndrome 5 | 1 | Nov 6, 2024 |
| Adenosine kinase deficiency | 1 | Nov 6, 2024 |
| Agammaglobulinemia 8b, autosomal recessive | 1 | Nov 6, 2024 |
| Aicardi-Goutieres syndrome 7 | 1 | Nov 6, 2024 |
| Alkuraya-Kucinskas syndrome | 1 | Nov 6, 2024 |
| Amelogenesis imperfecta type 1E | 1 | Nov 6, 2024 |
| Amyotrophic lateral sclerosis type 11 | 1 | Nov 6, 2024 |
| Angelman syndrome | 1 | Nov 6, 2024 |
| Aortic aneurysm, familial thoracic 10 | 1 | Nov 6, 2024 |
| Armfield syndrome | 1 | Nov 6, 2024 |
| Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome | 3 | Nov 6, 2024 |
| Atrial fibrillation, familial, 11 | 1 | Nov 6, 2024 |
| Autism, susceptibility to, 17 | 1 | Nov 6, 2024 |
| Autism, susceptibility to, 20 | 1 | Nov 6, 2024 |
| Autism, susceptibility to, X-linked 1 | 1 | Nov 6, 2024 |
| Autism, susceptibility to, X-linked 4 | 1 | Nov 6, 2024 |
| Autoinflammatory syndrome, familial, Behcet-like 1 | 3 | Nov 6, 2024 |
| Autosomal dominant Alport syndrome | 1 | Nov 6, 2024 |
| Autosomal dominant Robinow syndrome 3 | 1 | Nov 6, 2024 |
| Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome | 1 | Nov 6, 2024 |
| Autosomal dominant keratitis-ichthyosis-hearing loss syndrome | 1 | Nov 6, 2024 |
| Autosomal dominant nonsyndromic hearing loss 22 | 1 | Nov 6, 2024 |
| Autosomal dominant nonsyndromic hearing loss 9 | 1 | Nov 6, 2024 |
| Autosomal recessive Alport syndrome | 1 | Nov 6, 2024 |
| Autosomal recessive limb-girdle muscular dystrophy type 2J | 1 | Nov 6, 2024 |
| Autosomal recessive limb-girdle muscular dystrophy type 2L | 1 | Nov 6, 2024 |
| Autosomal recessive nonsyndromic hearing loss 1A | 1 | Nov 6, 2024 |
| Autosomal recessive nonsyndromic hearing loss 29 | 1 | Nov 6, 2024 |
| Autosomal recessive nonsyndromic hearing loss 3 | 2 | Nov 6, 2024 |
| Autosomal recessive nonsyndromic hearing loss 84B | 2 | Nov 6, 2024 |
| Autosomal recessive nonsyndromic hearing loss 93 | 1 | Nov 6, 2024 |
| Baraitser-Winter syndrome 1 | 1 | Nov 6, 2024 |
| Baraitser-winter syndrome 2 | 1 | Nov 6, 2024 |
| Bardet-Biedl syndrome 10 | 1 | Nov 6, 2024 |
| Beck-Fahrner syndrome | 12 | Nov 6, 2024 |
| Bifunctional peroxisomal enzyme deficiency | 2 | Nov 6, 2024 |
| Blau syndrome | 1 | Nov 6, 2024 |
| Bleeding disorder, platelet-type, 13, susceptibility to | 1 | Nov 6, 2024 |
| Blepharocheilodontic syndrome 1 | 1 | Nov 6, 2024 |
| Borjeson-Forssman-Lehmann syndrome | 1 | Nov 6, 2024 |
| Brachydactyly type E2 | 1 | Nov 6, 2024 |
| Brittle cornea syndrome 1 | 3 | Nov 6, 2024 |
| Brunet-Wagner neurodevelopmental syndrome | 1 | Nov 6, 2024 |
| Brunner syndrome | 1 | Nov 6, 2024 |
| CBL-related disorder | 1 | Nov 6, 2024 |
| COACH syndrome 1 | 2 | Nov 6, 2024 |
| CTCF-related neurodevelopmental disorder | 1 | Nov 6, 2024 |
| Cardiac anomalies - developmental delay - facial dysmorphism syndrome | 2 | Nov 6, 2024 |
| Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies | 1 | Nov 6, 2024 |
| Cardiomyopathy-hypotonia-lactic acidosis syndrome | 1 | Nov 6, 2024 |
| Catecholaminergic polymorphic ventricular tachycardia 1 | 2 | Nov 6, 2024 |
| Catifa syndrome | 1 | Nov 6, 2024 |
| Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome | 1 | Nov 6, 2024 |
| Char syndrome | 2 | Nov 6, 2024 |
| Charcot-Marie-Tooth disease X-linked dominant 1 | 2 | Nov 6, 2024 |
| Charcot-Marie-Tooth disease dominant intermediate E | 1 | Nov 6, 2024 |
| Childhood apraxia of speech | 1 | Nov 6, 2024 |
| Chilton-Okur-Chung neurodevelopmental syndrome | 2 | Nov 6, 2024 |
| Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome | 1 | Nov 6, 2024 |
| Cholestanol storage disease | 1 | Nov 6, 2024 |
| Cholestasis, progressive familial intrahepatic, 10 | 1 | Nov 6, 2024 |
| Cholestasis, progressive familial intrahepatic, 6 | 1 | Nov 6, 2024 |
| Chopra-Amiel-Gordon syndrome | 2 | Nov 6, 2024 |
| Clark-Baraitser syndrome | 2 | Nov 6, 2024 |
| Coffin-Lowry syndrome | 1 | Nov 6, 2024 |
| Coffin-Siris syndrome 1 | 4 | Nov 6, 2024 |
| Coffin-Siris syndrome 12 | 4 | Nov 6, 2024 |
| Coffin-Siris syndrome 6 | 2 | Nov 6, 2024 |
| Coffin-Siris syndrome 7 | 1 | Nov 6, 2024 |
| Cognitive impairment with or without cerebellar ataxia | 4 | Nov 6, 2024 |
| Combined oxidative phosphorylation deficiency 55 | 2 | Nov 6, 2024 |
| Complement component 2 deficiency | 1 | Nov 6, 2024 |
| Congenital contractural arachnodactyly | 1 | Nov 6, 2024 |
| Congenital factor VII deficiency | 2 | Nov 6, 2024 |
| Congenital heart defects and skeletal malformations syndrome | 1 | Nov 6, 2024 |
| Congenital heart defects, multiple types, 2 | 1 | Nov 6, 2024 |
| Congenital myasthenic syndrome 8 | 1 | Nov 6, 2024 |
| Cornelia de Lange syndrome 4 | 1 | Nov 6, 2024 |
| Cornelia de Lange syndrome 5 | 1 | Nov 6, 2024 |
| Cortical dysplasia, complex, with other brain malformations 11 | 1 | Nov 6, 2024 |
| Creatine transporter deficiency | 2 | Nov 6, 2024 |
| Cystic fibrosis | 2 | Nov 6, 2024 |
| DYRK1A-related intellectual disability syndrome | 1 | Nov 6, 2024 |
| Deafness with labyrinthine aplasia, microtia, and microdontia | 1 | Nov 6, 2024 |
| Deafness-infertility syndrome | 1 | Nov 6, 2024 |
| Deeah syndrome | 3 | Nov 6, 2024 |
| Deficiency of alpha-mannosidase | 1 | Nov 6, 2024 |
| Deficiency of aromatic-L-amino-acid decarboxylase | 1 | Nov 6, 2024 |
| Deficiency of butyryl-CoA dehydrogenase | 1 | Nov 6, 2024 |
| Dejerine-Sottas disease | 1 | Nov 6, 2024 |
| Dermatitis, atopic, 2 | 1 | Nov 6, 2024 |
| Developmental and epileptic encephalopathy 104 | 1 | Nov 6, 2024 |
| Developmental and epileptic encephalopathy 6B | 1 | Nov 6, 2024 |
| Developmental and epileptic encephalopathy 94 | 3 | Nov 6, 2024 |
| Developmental and epileptic encephalopathy, 18 | 1 | Nov 6, 2024 |
| Developmental and epileptic encephalopathy, 24 | 1 | Nov 6, 2024 |
| Developmental and epileptic encephalopathy, 44 | 2 | Nov 6, 2024 |
| Developmental and epileptic encephalopathy, 5 | 1 | Nov 6, 2024 |
| Developmental and epileptic encephalopathy, 59 | 1 | Nov 6, 2024 |
| Developmental and epileptic encephalopathy, 65 | 1 | Nov 6, 2024 |
| Developmental and epileptic encephalopathy, 7 | 1 | Nov 6, 2024 |
| Developmental and epileptic encephalopathy, 84 | 2 | Nov 6, 2024 |
| Developmental delay and seizures with or without movement abnormalities | 1 | Nov 6, 2024 |
| Developmental delay with autism spectrum disorder and gait instability | 2 | Nov 6, 2024 |
| Developmental delay with dysmorphic facies and dental anomalies | 1 | Nov 6, 2024 |
| Developmental delay with or without dysmorphic facies and autism | 9 | Nov 6, 2024 |
| Developmental delay with or without intellectual impairment or behavioral abnormalities | 1 | Nov 6, 2024 |
| Developmental delay with variable intellectual impairment and behavioral abnormalities | 3 | Nov 6, 2024 |
| Developmental delay with variable neurologic and brain abnormalities | 1 | Nov 6, 2024 |
| Developmental delay, behavioral abnormalities, and neuropsychiatric disorders | 1 | Nov 6, 2024 |
| Developmental delay, dysmorphic facies, and brain anomalies | 1 | Nov 6, 2024 |
| Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities | 1 | Nov 6, 2024 |
| Developmental delay, impaired speech, and behavioral abnormalities | 6 | Nov 6, 2024 |
| Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures | 3 | Nov 6, 2024 |
| Dihydropyrimidine dehydrogenase deficiency | 1 | Nov 6, 2024 |
| Duchenne muscular dystrophy | 1 | Nov 6, 2024 |
| Dystonia 24 | 1 | Nov 6, 2024 |
| Dystonia 27 | 2 | Nov 6, 2024 |
| Dystonia 28, childhood-onset | 1 | Nov 6, 2024 |
| Early-onset myopathy with fatal cardiomyopathy | 1 | Nov 6, 2024 |
| Early-onset parkinsonism-intellectual disability syndrome | 1 | Nov 6, 2024 |
| Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis | 3 | Nov 6, 2024 |
| Ehlers-Danlos syndrome due to tenascin-X deficiency | 3 | Nov 6, 2024 |
| Ehlers-Danlos syndrome, arthrochalasia type, 2 | 1 | Nov 6, 2024 |
| Ehlers-Danlos syndrome, classic type, 1 | 1 | Nov 6, 2024 |
| Ehlers-Danlos syndrome, kyphoscoliotic type 1 | 1 | Nov 6, 2024 |
| Ehlers-Danlos syndrome, periodontal type 2 | 1 | Nov 6, 2024 |
| Eichsfeld type congenital muscular dystrophy | 1 | Nov 6, 2024 |
| Emery-Dreifuss muscular dystrophy 4, autosomal dominant | 2 | Nov 6, 2024 |
| Emery-Dreifuss muscular dystrophy 5, autosomal dominant | 1 | Nov 6, 2024 |
| Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders | 1 | Nov 6, 2024 |
| Epilepsy, childhood absence, susceptibility to, 6 | 1 | Nov 6, 2024 |
| Epilepsy, familial focal, with variable foci 1 | 2 | Nov 6, 2024 |
| Epiphyseal dysplasia, multiple, 2 | 1 | Nov 6, 2024 |
| Epiphyseal dysplasia, multiple, 3 | 1 | Nov 6, 2024 |
| Episodic ataxia, type 9 | 3 | Nov 6, 2024 |
| Exostoses, multiple, type 2 | 1 | Nov 6, 2024 |
| FG syndrome 1 | 1 | Nov 6, 2024 |
| Familial Mediterranean fever | 1 | Nov 6, 2024 |
| Familial X-linked hypophosphatemic vitamin D refractory rickets | 1 | Nov 6, 2024 |
| Familial cold autoinflammatory syndrome 2 | 1 | Nov 6, 2024 |
| Fanconi anemia complementation group B | 1 | Nov 6, 2024 |
| Fanconi anemia complementation group C | 1 | Nov 6, 2024 |
| Fanconi anemia complementation group P | 2 | Nov 6, 2024 |
| Febrile seizures, familial, 4 | 1 | Nov 6, 2024 |
| Feingold syndrome type 1 | 1 | Nov 6, 2024 |
| Fetal akinesia deformation sequence 1 | 1 | Nov 6, 2024 |
| Fibromuscular dysplasia, multifocal | 1 | Nov 6, 2024 |
| Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement | 1 | Nov 6, 2024 |
| Focal dermal hypoplasia | 1 | Nov 6, 2024 |
| Fraser syndrome 1 | 1 | Nov 6, 2024 |
| Freeman-Sheldon syndrome | 2 | Nov 6, 2024 |
| Frontonasal dysplasia with alopecia and genital anomaly | 1 | Nov 6, 2024 |
| Gamma-aminobutyric acid transaminase deficiency | 1 | Nov 6, 2024 |
| Generalized epilepsy with febrile seizures plus, type 1 | 1 | Nov 6, 2024 |
| Generalized epilepsy with febrile seizures plus, type 10 | 1 | Nov 6, 2024 |
| Global developmental delay with speech and behavioral abnormalities | 1 | Nov 6, 2024 |
| Glomuvenous malformation | 1 | Nov 6, 2024 |
| Glutamate formiminotransferase deficiency | 2 | Nov 6, 2024 |
| Glycogen storage disease type X | 1 | Nov 6, 2024 |
| Glycosylphosphatidylinositol biosynthesis defect 15 | 2 | Nov 6, 2024 |
| Gray platelet syndrome | 1 | Nov 6, 2024 |
| Growth delay due to insulin-like growth factor I resistance | 2 | Nov 6, 2024 |
| Hematuria, benign familial, 1 | 2 | Nov 6, 2024 |
| Hereditary breast ovarian cancer syndrome | 19 | Mar 9, 2020 |
| Hereditary cancer-predisposing syndrome | 2 | Mar 9, 2020 |
| Hereditary cryohydrocytosis with reduced stomatin | 1 | Nov 6, 2024 |
| Hereditary diffuse gastric adenocarcinoma | 2 | Mar 9, 2020 |
| Hereditary factor XI deficiency disease | 2 | Nov 6, 2024 |
| Hereditary sensory and autonomic neuropathy type 7 | 1 | Nov 6, 2024 |
| Hereditary spastic paraplegia 26 | 1 | Nov 6, 2024 |
| Hereditary spastic paraplegia 7 | 1 | Nov 6, 2024 |
| Hermansky-Pudlak syndrome 1 | 2 | Nov 6, 2024 |
| Holoprosencephaly 9 | 1 | Nov 6, 2024 |
| Houge-Janssens syndrome 3 | 1 | Nov 6, 2024 |
| Hurler syndrome | 2 | Nov 6, 2024 |
| Hydrocephalus, congenital, 5, susceptibility to | 1 | Nov 6, 2024 |
| Hypercholesterolemia, familial, 1 | 1 | Nov 6, 2024 |
| Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 | 3 | Nov 6, 2024 |
| Ichthyosis vulgaris | 13 | Nov 6, 2024 |
| Immunodeficiency 65, susceptibility to viral infections | 1 | Nov 6, 2024 |
| Immunodeficiency 82 with systemic inflammation | 1 | Nov 6, 2024 |
| Immunodeficiency 98 with autoinflammation, X-linked | 1 | Nov 6, 2024 |
| Immunodeficiency, common variable, 2 | 1 | Nov 6, 2024 |
| Inborn glycerol kinase deficiency | 1 | Nov 6, 2024 |
| Incontinentia pigmenti syndrome | 1 | Nov 6, 2024 |
| Infantile hypophosphatasia | 3 | Nov 6, 2024 |
| Infantile neuroaxonal dystrophy | 1 | Nov 6, 2024 |
| Intellectual developmental disorder 61 | 2 | Nov 6, 2024 |
| Intellectual developmental disorder 62 | 1 | Nov 6, 2024 |
| Intellectual developmental disorder with autism and macrocephaly | 1 | Nov 6, 2024 |
| Intellectual developmental disorder with autism and speech delay | 2 | Nov 6, 2024 |
| Intellectual developmental disorder with autistic features and language delay, with or without seizures | 3 | Nov 6, 2024 |
| Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities | 2 | Nov 6, 2024 |
| Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold | 1 | Nov 6, 2024 |
| Intellectual developmental disorder with impaired language and dysmorphic facies | 1 | Nov 6, 2024 |
| Intellectual developmental disorder with neuropsychiatric features | 1 | Nov 6, 2024 |
| Intellectual developmental disorder with seizures and language delay | 2 | Nov 6, 2024 |
| Intellectual developmental disorder with severe speech and ambulation defects | 1 | Nov 6, 2024 |
| Intellectual developmental disorder with short stature and behavioral abnormalities | 1 | Nov 6, 2024 |
| Intellectual developmental disorder with speech delay, autism, and dysmorphic facies | 1 | Nov 6, 2024 |
| Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities | 1 | Nov 6, 2024 |
| Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies | 1 | Nov 6, 2024 |
| Intellectual developmental disorder, autosomal dominant 63, with macrocephaly | 4 | Nov 6, 2024 |
| Intellectual developmental disorder, autosomal dominant 64 | 4 | Nov 6, 2024 |
| Intellectual developmental disorder, autosomal dominant 65 | 3 | Nov 6, 2024 |
| Intellectual developmental disorder, autosomal dominant 67 | 1 | Nov 6, 2024 |
| Intellectual developmental disorder, autosomal dominant 68 | 1 | Nov 6, 2024 |
| Intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities | 1 | Nov 6, 2024 |
| Intellectual developmental disorder, autosomal dominant 73 | 2 | Nov 6, 2024 |
| Intellectual developmental disorder, autosomal recessive 72 | 1 | Nov 6, 2024 |
| Intellectual developmental disorder, autosomal recessive 77 | 2 | Nov 6, 2024 |
| Intellectual disability, X-linked 1 | 2 | Nov 6, 2024 |
| Intellectual disability, X-linked 100 | 1 | Nov 6, 2024 |
| Intellectual disability, X-linked 104 | 2 | Nov 6, 2024 |
| Intellectual disability, X-linked 30 | 1 | Nov 6, 2024 |
| Intellectual disability, X-linked 49 | 3 | Nov 6, 2024 |
| Intellectual disability, X-linked 93 | 3 | Nov 6, 2024 |
| Intellectual disability, X-linked 96 | 1 | Nov 6, 2024 |
| Intellectual disability, X-linked syndromic, Turner type | 6 | Nov 6, 2024 |
| Intellectual disability, X-linked, syndromic 33 | 2 | Nov 6, 2024 |
| Intellectual disability, X-linked, syndromic, Houge type | 1 | Nov 6, 2024 |
| Intellectual disability, X-linked, with or without seizures, ARX-related | 1 | Nov 6, 2024 |
| Intellectual disability, autosomal dominant 11 | 1 | Nov 6, 2024 |
| Intellectual disability, autosomal dominant 13 | 1 | Nov 6, 2024 |
| Intellectual disability, autosomal dominant 14 | 3 | Nov 6, 2024 |
| Intellectual disability, autosomal dominant 24 | 2 | Nov 6, 2024 |
| Intellectual disability, autosomal dominant 29 | 1 | Nov 6, 2024 |
| Intellectual disability, autosomal dominant 38 | 1 | Nov 6, 2024 |
| Intellectual disability, autosomal dominant 39 | 1 | Nov 6, 2024 |
| Intellectual disability, autosomal dominant 45 | 3 | Nov 6, 2024 |
| Intellectual disability, autosomal dominant 47 | 1 | Nov 6, 2024 |
| Intellectual disability, autosomal dominant 50 | 1 | Nov 6, 2024 |
| Intellectual disability, autosomal dominant 52 | 3 | Nov 6, 2024 |
| Intellectual disability, autosomal dominant 53 | 2 | Nov 6, 2024 |
| Intellectual disability, autosomal dominant 54 | 1 | Nov 6, 2024 |
| Intellectual disability, autosomal dominant 57 | 2 | Nov 6, 2024 |
| Intellectual disability, autosomal dominant 58 | 1 | Nov 6, 2024 |
| Intellectual disability, autosomal dominant 6 | 2 | Nov 6, 2024 |
| Intellectual disability, autosomal recessive 13 | 1 | Nov 6, 2024 |
| Intellectual disability, autosomal recessive 3 | 1 | Nov 6, 2024 |
| Intellectual disability, autosomal recessive 43 | 1 | Nov 6, 2024 |
| Intellectual disability, autosomal recessive 5 | 1 | Nov 6, 2024 |
| Intellectual disability, autosomal recessive 53 | 1 | Nov 6, 2024 |
| Intellectual disability, autosomal recessive 65 | 2 | Nov 6, 2024 |
| Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency | 5 | Nov 6, 2024 |
| Intellectual disability-hypotonia-spasticity-sleep disorder syndrome | 2 | Nov 6, 2024 |
| Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome | 1 | Nov 6, 2024 |
| Intellectual disability-severe speech delay-mild dysmorphism syndrome | 2 | Nov 6, 2024 |
| Isolated neonatal sclerosing cholangitis | 1 | Nov 6, 2024 |
| Joubert syndrome 1 | 2 | Nov 6, 2024 |
| Joubert syndrome 23 | 2 | Nov 6, 2024 |
| Joubert syndrome 9 | 2 | Nov 6, 2024 |
| KBG syndrome | 4 | Nov 6, 2024 |
| Kleefstra syndrome 1 | 2 | Nov 6, 2024 |
| Kleefstra syndrome 2 | 2 | Nov 6, 2024 |
| Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome | 1 | Nov 6, 2024 |
| LEOPARD syndrome 1 | 1 | Nov 6, 2024 |
| Lamb-Shaffer syndrome | 1 | Nov 6, 2024 |
| Lambdoidal craniosynostosis | 1 | Nov 6, 2024 |
| Landau-Kleffner syndrome | 2 | Nov 6, 2024 |
| Larsen-like syndrome, B3GAT3 type | 1 | Nov 6, 2024 |
| Lateral meningocele syndrome | 1 | Nov 6, 2024 |
| Lessel-Kreienkamp syndrome | 1 | Nov 6, 2024 |
| Leucine-induced hypoglycemia | 1 | Nov 6, 2024 |
| Leukodystrophy, hypomyelinating, 18 | 1 | Nov 6, 2024 |
| Leukoencephalopathy with vanishing white matter 1 | 1 | Nov 6, 2024 |
| Lissencephaly 8 | 2 | Nov 6, 2024 |
| Loeys-Dietz syndrome 1 | 1 | Nov 6, 2024 |
| Loeys-Dietz syndrome 2 | 1 | Nov 6, 2024 |
| Long QT syndrome 1 | 1 | Nov 6, 2024 |
| Lowe syndrome | 1 | Nov 6, 2024 |
| Macrocephaly, acquired, with impaired intellectual development | 1 | Nov 6, 2024 |
| Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin | 1 | Nov 6, 2024 |
| Macrocephaly-autism syndrome | 1 | Nov 6, 2024 |
| Macrocephaly-developmental delay syndrome | 1 | Nov 6, 2024 |
| Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome | 1 | Nov 6, 2024 |
| Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss | 1 | Nov 6, 2024 |
| Malaria, susceptibility to | 1 | Nov 6, 2024 |
| Malignant hyperthermia, susceptibility to, 1 | 1 | Nov 6, 2024 |
| Marden-Walker syndrome | 1 | Nov 6, 2024 |
| Medium-chain acyl-coenzyme A dehydrogenase deficiency | 2 | Nov 6, 2024 |
| Megalencephalic leukoencephalopathy with subcortical cysts 2A | 1 | Nov 6, 2024 |
| Menke-Hennekam syndrome 2 | 2 | Nov 6, 2024 |
| Mevalonic aciduria | 2 | Nov 6, 2024 |
| Microcephalic primordial dwarfism due to RTTN deficiency | 1 | Nov 6, 2024 |
| Microcephaly 26, primary, autosomal dominant | 1 | Nov 6, 2024 |
| Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability | 2 | Nov 6, 2024 |
| Microcephaly, short stature, and impaired glucose metabolism 2 | 1 | Nov 6, 2024 |
| Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome | 4 | Nov 6, 2024 |
| Mitochondrial DNA depletion syndrome 14B (cardioencephalomyopathic type) | 1 | Nov 6, 2024 |
| Mitochondrial complex III deficiency nuclear type 3 | 1 | Nov 6, 2024 |
| Mitral valve prolapse, myxomatous 2 | 1 | Nov 6, 2024 |
| Mowat-Wilson syndrome | 1 | Nov 6, 2024 |
| Mucopolysaccharidosis, MPS-III-A | 1 | Nov 6, 2024 |
| Mucopolysaccharidosis, MPS-III-B | 2 | Nov 6, 2024 |
| Mullegama-Klein-Martinez syndrome | 1 | Nov 6, 2024 |
| Multiple benign circumferential skin creases on limbs 1 | 1 | Nov 6, 2024 |
| Muscle AMP deaminase deficiency | 1 | Nov 6, 2024 |
| Muscular dystrophy-dystroglycanopathy type B5 | 1 | Nov 6, 2024 |
| Myhre syndrome | 1 | Nov 6, 2024 |
| Myoclonic dystonia 11 | 1 | Nov 6, 2024 |
| Myopathy, myofibrillar, 9, with early respiratory failure | 1 | Nov 6, 2024 |
| Myopia 27 | 1 | Nov 6, 2024 |
| Nail-patella syndrome | 1 | Nov 6, 2024 |
| Nemaline myopathy 2 | 2 | Nov 6, 2024 |
| Nephrotic syndrome, type 12 | 1 | Nov 6, 2024 |
| Nephrotic syndrome, type 19 | 1 | Nov 6, 2024 |
| Neurodegeneration with brain iron accumulation 8 | 1 | Nov 6, 2024 |
| Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities | 3 | Nov 6, 2024 |
| Neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities | 2 | Nov 6, 2024 |
| Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies | 1 | Nov 6, 2024 |
| Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies | 1 | Nov 6, 2024 |
| Neurodevelopmental disorder with eye movement abnormalities and ataxia | 1 | Nov 6, 2024 |
| Neurodevelopmental disorder with hearing loss and spasticity | 1 | Nov 6, 2024 |
| Neurodevelopmental disorder with hypotonia and brain abnormalities | 1 | Nov 6, 2024 |
| Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities | 2 | Nov 6, 2024 |
| Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures | 1 | Nov 6, 2024 |
| Neurodevelopmental disorder with impaired language and ataxia and with or without seizures | 1 | Nov 6, 2024 |
| Neurodevelopmental disorder with language delay and seizures | 2 | Nov 6, 2024 |
| Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy | 2 | Nov 6, 2024 |
| Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures | 1 | Nov 6, 2024 |
| Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | 4 | Nov 6, 2024 |
| Neurodevelopmental disorder with or without autism or seizures | 1 | Nov 6, 2024 |
| Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA | 2 | Nov 6, 2024 |
| Neurodevelopmental disorder with or without variable movement or behavioral abnormalities | 1 | Nov 6, 2024 |
| Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities | 1 | Nov 6, 2024 |
| Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures | 3 | Nov 6, 2024 |
| Neurodevelopmental disorder with seizures and brain atrophy | 2 | Nov 6, 2024 |
| Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities | 1 | Nov 6, 2024 |
| Neurodevelopmental disorder with severe motor impairment and absent language | 2 | Nov 6, 2024 |
| Neurodevelopmental disorder with speech impairment and dysmorphic facies | 1 | Nov 6, 2024 |
| Neurodevelopmental disorder with speech impairment and with or without seizures | 1 | Nov 6, 2024 |
| Neurofibromatosis-Noonan syndrome | 3 | Nov 6, 2024 |
| Neuronopathy, distal hereditary motor, type 7A | 1 | Nov 6, 2024 |
| Neuroocular syndrome 1 | 1 | Nov 6, 2024 |
| Niemann-Pick disease, type C1 | 2 | Nov 6, 2024 |
| Nizon-Isidor syndrome | 3 | Nov 6, 2024 |
| Noonan syndrome 1 | 2 | Nov 6, 2024 |
| Noonan syndrome 2 | 3 | Nov 6, 2024 |
| Noonan syndrome 4 | 2 | Nov 6, 2024 |
| Noonan syndrome 6 | 1 | Nov 6, 2024 |
| Noonan syndrome 7 | 1 | Nov 6, 2024 |
| Norman-Roberts syndrome | 2 | Nov 6, 2024 |
| O'Donnell-Luria-Rodan syndrome | 1 | Nov 6, 2024 |
| Oculocutaneous albinism type 1B | 2 | Nov 6, 2024 |
| Okur-Chung neurodevelopmental syndrome | 1 | Nov 6, 2024 |
| Ornithine carbamoyltransferase deficiency | 2 | Nov 6, 2024 |
| Osteogenesis imperfecta type 15 | 1 | Nov 6, 2024 |
| PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome | 6 | Nov 6, 2024 |
| PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome | 1 | Nov 6, 2024 |
| Paganini-Miozzo syndrome | 1 | Nov 6, 2024 |
| Pallister-Hall syndrome | 1 | Nov 6, 2024 |
| Pancreatic hypoplasia-diabetes-congenital heart disease syndrome | 1 | Nov 6, 2024 |
| Parenti-mignot neurodevelopmental syndrome | 2 | Nov 6, 2024 |
| Partington syndrome | 1 | Nov 6, 2024 |
| Peroxisome biogenesis disorder 4B | 1 | Nov 6, 2024 |
| Peroxisome biogenesis disorder 6B | 1 | Nov 6, 2024 |
| Phelan-McDermid syndrome | 1 | Nov 6, 2024 |
| Phenylketonuria | 2 | Nov 6, 2024 |
| Pilarowski-Bjornsson syndrome | 3 | Nov 6, 2024 |
| Pitt-Hopkins syndrome | 2 | Nov 6, 2024 |
| Pitt-Hopkins-like syndrome 2 | 2 | Nov 6, 2024 |
| Pituitary adenoma 5, multiple types | 1 | Nov 6, 2024 |
| Pituitary hormone deficiency, combined, 2 | 1 | Nov 6, 2024 |
| Poirier-Bienvenu neurodevelopmental syndrome | 1 | Nov 6, 2024 |
| Polycystic kidney disease, adult type | 3 | Nov 6, 2024 |
| Pontocerebellar hypoplasia, type 13 | 2 | Nov 6, 2024 |
| Potassium-aggravated myotonia | 1 | Nov 6, 2024 |
| Prieto syndrome | 1 | Nov 6, 2024 |
| Primary erythromelalgia | 1 | Nov 6, 2024 |
| Progeroid and marfanoid aspect-lipodystrophy syndrome | 2 | Nov 6, 2024 |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 | 1 | Nov 6, 2024 |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 | 1 | Nov 6, 2024 |
| Progressive familial intrahepatic cholestasis type 3 | 1 | Nov 6, 2024 |
| Progressive sclerosing poliodystrophy | 1 | Nov 6, 2024 |
| Propionic acidemia | 1 | Nov 6, 2024 |
| Pseudohypoparathyroidism type 1C | 1 | Nov 6, 2024 |
| Pseudoxanthoma elasticum, forme fruste | 1 | Nov 6, 2024 |
| Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7 | 1 | Nov 6, 2024 |
| Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 | 1 | Nov 6, 2024 |
| Pulmonary hypertension, primary, 1 | 1 | Nov 6, 2024 |
| Radio-Tartaglia syndrome | 2 | Nov 6, 2024 |
| Rafiq syndrome | 4 | Nov 6, 2024 |
| Rahman syndrome | 1 | Nov 6, 2024 |
| Rauch-Steindl syndrome | 3 | Nov 6, 2024 |
| Retinitis pigmentosa 1 | 1 | Nov 6, 2024 |
| Rotor syndrome | 1 | Nov 6, 2024 |
| SHORT syndrome | 1 | Nov 6, 2024 |
| SIN3A-related intellectual disability syndrome due to a point mutation | 3 | Nov 6, 2024 |
| Schaaf-Yang syndrome | 1 | Nov 6, 2024 |
| Schimke immuno-osseous dysplasia | 1 | Nov 6, 2024 |
| Schinzel-Giedion syndrome | 1 | Nov 6, 2024 |
| Seizures, benign familial neonatal, 2 | 1 | Nov 6, 2024 |
| Severe achondroplasia-developmental delay-acanthosis nigricans syndrome | 1 | Nov 6, 2024 |
| Severe combined immunodeficiency due to LCK deficiency | 1 | Nov 6, 2024 |
| Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome | 2 | Nov 6, 2024 |
| Severe intellectual disability-progressive spastic diplegia syndrome | 1 | Nov 6, 2024 |
| Short stature, microcephaly, and endocrine dysfunction | 1 | Nov 6, 2024 |
| Short stature-brachydactyly-obesity-global developmental delay syndrome | 1 | Nov 6, 2024 |
| Shukla-Vernon syndrome | 2 | Nov 6, 2024 |
| Sifrim-Hitz-Weiss syndrome | 1 | Nov 6, 2024 |
| Smith-Lemli-Opitz syndrome | 1 | Nov 6, 2024 |
| Snijders Blok-Campeau syndrome | 5 | Nov 6, 2024 |
| Sotos syndrome | 4 | Nov 6, 2024 |
| Spastic paraplegia 81, autosomal recessive | 1 | Nov 6, 2024 |
| Spastic paraplegia, intellectual disability, nystagmus, and obesity | 1 | Nov 6, 2024 |
| Spinal muscular atrophy with congenital bone fractures 2 | 1 | Nov 6, 2024 |
| Spinocerebellar ataxia type 6 | 2 | Nov 6, 2024 |
| Spondyloepimetaphyseal dysplasia, aggrecan type | 1 | Nov 6, 2024 |
| Syndromic X-linked intellectual disability 34 | 2 | Nov 6, 2024 |
| Syndromic X-linked intellectual disability Lubs type | 1 | Nov 6, 2024 |
| Syndromic X-linked intellectual disability Najm type | 1 | Nov 6, 2024 |
| Syndromic X-linked intellectual disability Nascimento type | 1 | Nov 6, 2024 |
| Syndromic X-linked intellectual disability Shashi type | 1 | Nov 6, 2024 |
| Syndromic X-linked intellectual disability Snyder type | 1 | Nov 6, 2024 |
| THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome | 1 | Nov 6, 2024 |
| Tall stature-intellectual disability-renal anomalies syndrome | 1 | Nov 6, 2024 |
| Teebi hypertelorism syndrome 1 | 1 | Nov 6, 2024 |
| Telecanthus | 1 | Nov 6, 2024 |
| Testosterone 17-beta-dehydrogenase deficiency | 1 | Nov 6, 2024 |
| Thrombocytopenia 2 | 1 | Nov 6, 2024 |
| Thrombophilia due to protein C deficiency, autosomal dominant | 1 | Nov 6, 2024 |
| Thyroid dyshormonogenesis 6 | 1 | Nov 6, 2024 |
| Tuberous sclerosis 1 | 1 | Nov 6, 2024 |
| Tyrosinase-positive oculocutaneous albinism | 3 | Nov 6, 2024 |
| Ullrich congenital muscular dystrophy 1A | 3 | Nov 6, 2024 |
| Unverricht-Lundborg syndrome | 1 | Nov 6, 2024 |
| Usher syndrome type 1D | 2 | Nov 6, 2024 |
| Usher syndrome type 1F | 1 | Nov 6, 2024 |
| Usmani-Riazuddin syndrome, autosomal dominant | 1 | Nov 6, 2024 |
| VISS syndrome | 1 | Nov 6, 2024 |
| Vertebral, cardiac, tracheoesophageal, renal, and limb defects | 1 | Nov 6, 2024 |
| Vesicoureteral reflux 8 | 4 | Nov 6, 2024 |
| Vissers-Bodmer syndrome | 3 | Nov 6, 2024 |
| Weill-Marchesani 4 syndrome, recessive | 1 | Nov 6, 2024 |
| Weill-Marchesani syndrome 2, dominant | 3 | Nov 6, 2024 |
| Weiss-Kruszka syndrome | 2 | Nov 6, 2024 |
| Wiedemann-Steiner syndrome | 4 | Nov 6, 2024 |
| Wilson-Turner syndrome | 1 | Nov 6, 2024 |
| Wolfram syndrome 1 | 1 | Nov 6, 2024 |
| X-linked Alport syndrome | 2 | Nov 6, 2024 |
| X-linked central congenital hypothyroidism with late-onset testicular enlargement | 1 | Nov 6, 2024 |
| X-linked intellectual disability Cabezas type | 2 | Nov 6, 2024 |
| X-linked intellectual disability, Cantagrel type | 4 | Nov 6, 2024 |
| X-linked intellectual disability, Stocco dos Santos type | 1 | Nov 6, 2024 |
| X-linked intellectual disability-cerebellar hypoplasia syndrome | 1 | Nov 6, 2024 |
| X-linked intellectual disability-psychosis-macroorchidism syndrome | 1 | Nov 6, 2024 |
| X-linked lymphoproliferative disease due to XIAP deficiency | 1 | Nov 6, 2024 |
| XFE progeroid syndrome | 1 | Nov 6, 2024 |
| Yoon-Bellen neurodevelopmental syndrome | 1 | Nov 6, 2024 |
| ZTTK syndrome | 1 | Nov 6, 2024 |
| von Willebrand disease type 1 | 4 | Nov 6, 2024 |
| von Willebrand disease type 2 | 1 | Nov 6, 2024 |
