| 15q11q13 microduplication syndrome | 1 | Aug 31, 2022 |
| 16p13.11 microdeletion syndrome | 1 | Aug 31, 2022 |
| 16p13.11 microduplication syndrome | 2 | Aug 31, 2022 |
| 17p11.2 microduplication syndrome | 2 | Aug 31, 2022 |
| 20p12.3 microdeletion syndrome | 1 | Aug 31, 2022 |
| 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | 3 | Oct 31, 2023 |
| 3M syndrome 1 | 1 | Oct 31, 2023 |
| 46 XY differences of sex development | 1 | Jul 6, 2021 |
| 46,XX sex reversal 1 | 2 | Aug 31, 2022 |
| 46,XY ovotesticular disorder of sex development | 1 | May 16, 2022 |
| 46,XY sex reversal 7 | 1 | Aug 31, 2022 |
| 5p partial monosomy syndrome | 2 | Aug 31, 2022 |
| 7q11.23 microduplication syndrome | 1 | Aug 31, 2022 |
| 8p inverted duplication/deletion syndrome | 1 | Aug 31, 2022 |
| Abnormal heart morphology | 1 | Aug 31, 2022 |
| Abnormal pulmonary interstitial morphology | 1 | Jan 24, 2022 |
| Acrocephalosyndactyly type I | 1 | May 16, 2022 |
| Acrodermatitis continua suppurativa of Hallopeau | 1 | Sep 17, 2024 |
| Androgen resistance syndrome | 7 | Sep 17, 2024 |
| Anemia | 1 | Feb 1, 2022 |
| Angelman syndrome | 5 | Aug 31, 2022 |
| Angioosteohypertrophic syndrome | 3 | May 16, 2022 |
| Arteriovenous malformation | 1 | Jun 17, 2021 |
| Aural atresia, congenital | 2 | Aug 31, 2022 |
| Autism | 2 | Aug 31, 2022 |
| Autoimmune interstitial lung disease-arthritis syndrome | 1 | Oct 31, 2023 |
| Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency | 1 | Sep 17, 2024 |
| Autosomal dominant hyperinsulinism due to SUR1 deficiency | 1 | Mar 14, 2022 |
| Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency | 2 | Sep 17, 2024 |
| Beckwith-Wiedemann syndrome | 1 | Aug 31, 2022 |
| Blue rubber bleb nevus | 1 | May 16, 2022 |
| Bradycardia | 1 | Aug 31, 2022 |
| Bronchopulmonary dysplasia of newborn | 1 | Feb 1, 2022 |
| Capillary Telangiectasia, Brain | 1 | Jun 21, 2021 |
| Capillary infantile hemangioma | 3 | May 16, 2022 |
| Capillary malformation | 2 | Jan 30, 2024 |
| Capillary malformation-arteriovenous malformation 1 | 11 | Sep 17, 2024 |
| Capillary malformation-arteriovenous malformation 2 | 2 | Oct 31, 2023 |
| Capillary malformation-arteriovenous malformation syndrome | 1 | May 16, 2022 |
| Cardiomyopathy | 1 | Aug 31, 2022 |
| Cerebral arteriovenous malformation | 2 | Jan 30, 2024 |
| Cerebral cavernous malformation | 5 | Sep 17, 2024 |
| Cerebral cavernous malformation 2 | 1 | Mar 17, 2022 |
| Childhood hypophosphatasia | 5 | Sep 17, 2024 |
| Chromosome 10q23 deletion syndrome | 1 | Aug 31, 2022 |
| Chromosome 15q13.3 microdeletion syndrome | 3 | Aug 31, 2022 |
| Chromosome 16p11.2 duplication syndrome | 2 | Aug 31, 2022 |
| Chromosome 16p13.3 duplication syndrome | 1 | Aug 31, 2022 |
| Chromosome 17q11.2 deletion syndrome, 1.4Mb | 1 | Aug 31, 2022 |
| Chromosome 17q12 deletion syndrome | 2 | Aug 31, 2022 |
| Chromosome 1p36 deletion syndrome | 3 | Aug 31, 2022 |
| Chromosome 1p36 deletion syndrome, proximal | 1 | Aug 31, 2022 |
| Chromosome 1q21.1 deletion syndrome | 3 | Aug 31, 2022 |
| Chromosome 1q21.1 duplication syndrome | 3 | Aug 31, 2022 |
| Chromosome 1q41-q42 deletion syndrome | 1 | Aug 31, 2022 |
| Chromosome 22q11.2 deletion syndrome, distal | 1 | Oct 31, 2023 |
| Chromosome 22q11.2 microduplication syndrome | 5 | Aug 31, 2022 |
| Chromosome 2q32-q33 deletion syndrome | 1 | Aug 31, 2022 |
| Chromosome 2q37 deletion syndrome | 2 | Aug 31, 2022 |
| Chromosome 3q13.31 deletion syndrome | 1 | Aug 31, 2022 |
| Chromosome 3q29 microdeletion syndrome | 1 | Aug 31, 2022 |
| Chromosome 6q11-q14 deletion syndrome | 1 | Aug 31, 2022 |
| Chromosome 9p deletion syndrome | 4 | Aug 31, 2022 |
| Chromosome Xp11.22 duplication syndrome | 1 | Aug 31, 2022 |
| Chromosome Xq28 duplication syndrome | 1 | Aug 31, 2022 |
| Cleidocranial dysostosis | 1 | May 16, 2022 |
| Coffin-Siris syndrome 1 | 2 | Aug 31, 2022 |
| Complete trisomy 13 syndrome | 1 | Aug 31, 2022 |
| Congenital malabsorptive diarrhea 4 | 1 | Oct 31, 2023 |
| Cowden syndrome | 1 | Jan 30, 2024 |
| Cowden syndrome 1 | 3 | Sep 17, 2024 |
| Craniosynostosis 2 | 1 | Oct 31, 2023 |
| Craniosynostosis syndrome | 2 | Jul 6, 2021 |
| Crouzon syndrome | 1 | Mar 27, 2023 |
| Cyclical vomiting syndrome | 1 | Aug 31, 2022 |
| DDX41-related hematologic malignancy predisposition syndrome | 1 | Sep 17, 2024 |
| Deficiency of steroid 17-alpha-monooxygenase | 2 | Apr 12, 2022 |
| Delayed speech and language development | 2 | Aug 31, 2022 |
| Deletion of long arm of chromosome 18 | 1 | Aug 31, 2022 |
| Deletion of short arm of chromosome 18 | 2 | Aug 31, 2022 |
| DiGeorge syndrome | 7 | Oct 31, 2023 |
| Diabetes mellitus, transient neonatal, 2 | 1 | Oct 31, 2023 |
| Dilated cardiomyopathy 1DD | 1 | Aug 31, 2022 |
| Disorder of lung | 1 | Feb 1, 2022 |
| Distal 16p11.2 microdeletion syndrome | 2 | Aug 31, 2022 |
| Distal tetrasomy 15q | 2 | Aug 31, 2022 |
| Drash syndrome | 1 | Oct 31, 2023 |
| Eczematoid dermatitis | 1 | Feb 1, 2022 |
| Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome | 1 | Oct 31, 2023 |
| FGFR2-related craniosynostosis | 1 | Sep 17, 2024 |
| FRAXE | 1 | Aug 31, 2022 |
| Familial clubfoot due to 17q23.1q23.2 microduplication | 1 | Aug 31, 2022 |
| Familial multiple nevi flammei | 1 | Oct 31, 2023 |
| Feeding difficulties | 1 | Feb 1, 2022 |
| Gastroesophageal reflux | 1 | Feb 1, 2022 |
| Global developmental delay | 3 | Aug 31, 2022 |
| Gorham-Stout disease | 1 | Mar 27, 2023 |
| Granulomatous disease, chronic, X-linked | 1 | Aug 31, 2022 |
| Greig cephalopolysyndactyly syndrome | 1 | Aug 31, 2022 |
| HRAS-related disorder | 2 | Sep 17, 2024 |
| Hearing impairment | 1 | Aug 31, 2022 |
| Hereditary hemorrhagic telangiectasia | 3 | May 16, 2022 |
| Hereditary liability to pressure palsies | 1 | Aug 31, 2022 |
| Hereditary lymphedema type I | 3 | Oct 31, 2023 |
| Hermansky-Pudlak syndrome 1 | 1 | Aug 31, 2022 |
| Holoprosencephaly 3 | 1 | Aug 31, 2022 |
| Hunter-McAlpine craniosynostosis | 1 | Aug 31, 2022 |
| Hydrocephalus | 2 | Aug 31, 2022 |
| Hyper-IgM syndrome type 1 | 1 | Sep 17, 2024 |
| Hyperglycemia | 1 | Apr 19, 2023 |
| Hyperinsulinemic hypoglycemia, familial, 1 | 1 | Sep 17, 2024 |
| Hyperinsulinism due to HNF1A deficiency | 2 | May 16, 2022 |
| Hyperinsulinism due to INSR deficiency | 2 | Sep 17, 2024 |
| Hypoglycemia | 2 | Jan 30, 2024 |
| Hypogonadism with anosmia | 1 | May 16, 2022 |
| Hypogonadotropic hypogonadism 5 with or without anosmia | 1 | Sep 17, 2024 |
| Hypoplastic left heart syndrome 1 | 2 | Aug 31, 2022 |
| Hypotonia | 1 | Aug 31, 2022 |
| Immunodeficiency, common variable, 12 | 1 | Aug 31, 2022 |
| Intellectual disability, autosomal dominant 1 | 1 | Aug 31, 2022 |
| Intellectual disability, autosomal dominant 22 | 1 | Aug 31, 2022 |
| Interstitial lung disease due to ABCA3 deficiency | 2 | Oct 31, 2023 |
| Intestinal obstruction | 1 | Jul 6, 2021 |
| Intestinal pseudo-obstruction | 1 | Feb 7, 2022 |
| Juvenile nasopharyngeal angiofibroma | 2 | Sep 17, 2024 |
| Koolen-de Vries syndrome | 1 | Aug 31, 2022 |
| Lacrimoauriculodentodigital syndrome 3 | 1 | Oct 31, 2023 |
| Lamb-Shaffer syndrome | 1 | Aug 31, 2022 |
| Langer-Giedion syndrome | 1 | Aug 31, 2022 |
| Lymphatic malformation | 3 | Oct 31, 2023 |
| MEGF8-related Carpenter syndrome | 2 | Oct 31, 2023 |
| Maturity-onset diabetes of the young | 6 | Jun 15, 2021 |
| Maturity-onset diabetes of the young type 1 | 2 | Sep 17, 2024 |
| Maturity-onset diabetes of the young type 10 | 1 | Dec 5, 2022 |
| Maturity-onset diabetes of the young type 13 | 1 | Oct 31, 2023 |
| Maturity-onset diabetes of the young type 2 | 7 | Sep 17, 2024 |
| Maturity-onset diabetes of the young type 3 | 5 | Sep 17, 2024 |
| Maturity-onset diabetes of the young type 4 | 1 | Oct 31, 2023 |
| Mayer Rokitansky Kuster Hauser syndrome type 1 | 1 | Aug 31, 2022 |
| Megacystis, microcolon, hypoperistalsis syndrome | 1 | Mar 29, 2022 |
| Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 | 1 | Oct 31, 2023 |
| Megacystis-microcolon-intestinal hypoperistalsis syndrome 5 | 4 | Oct 31, 2023 |
| Microcephaly, normal intelligence and immunodeficiency | 1 | Sep 17, 2024 |
| Micropenis | 1 | Mar 14, 2022 |
| Miller Dieker syndrome | 1 | Aug 31, 2022 |
| Mosaic trisomy 2 | 1 | Aug 31, 2022 |
| Muenke syndrome | 1 | May 16, 2022 |
| Multiple congenital anomalies/dysmorphic syndrome | 1 | Aug 31, 2022 |
| Multiple cutaneous and mucosal venous malformations | 4 | Sep 17, 2024 |
| Nail-patella syndrome | 1 | Aug 31, 2022 |
| Neurodevelopmental delay | 6 | Aug 31, 2022 |
| Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language | 1 | Aug 31, 2022 |
| Neurofibromatosis, type 1 | 1 | Aug 31, 2022 |
| Overgrowth syndrome | 1 | Jan 30, 2024 |
| PIK3CA overgrowth syndrome | 2 | Aug 20, 2024 |
| PIK3CA related overgrowth syndrome | 8 | Sep 17, 2024 |
| PMP22-RAI1 contiguous gene duplication syndrome | 1 | Aug 31, 2022 |
| PTEN hamartoma tumor syndrome | 1 | May 16, 2022 |
| Parkes Weber syndrome | 1 | May 16, 2022 |
| Penoscrotal transposition | 1 | Feb 1, 2022 |
| Persistent Mullerian duct syndrome | 3 | Oct 31, 2023 |
| Peutz-Jeghers syndrome | 1 | Aug 31, 2022 |
| Pfeiffer syndrome | 1 | Mar 27, 2023 |
| Phelan-McDermid syndrome | 2 | Aug 31, 2022 |
| Phimosis | 1 | Feb 1, 2022 |
| Piebaldism | 1 | Aug 31, 2022 |
| Pitt-Hopkins syndrome | 1 | Sep 17, 2024 |
| Polydactyly | 2 | Aug 31, 2022 |
| Potocki-Shaffer syndrome | 1 | Aug 31, 2022 |
| Prader-Willi syndrome | 1 | Aug 31, 2022 |
| Progressive myositis ossificans | 1 | May 16, 2022 |
| Proximal 16p11.2 microdeletion syndrome | 6 | Aug 31, 2022 |
| Pure gonadal dysgenesis 46,XY | 2 | Jan 29, 2024 |
| Respiratory failure | 2 | Feb 1, 2022 |
| Rett syndrome | 3 | Mar 13, 2023 |
| Ring chromosome 7 | 1 | Aug 31, 2022 |
| Saethre-Chotzen syndrome | 1 | Aug 31, 2022 |
| See cases | 13 | Aug 22, 2022 |
| Seizure | 3 | Aug 31, 2022 |
| Septo-optic dysplasia sequence | 1 | Oct 31, 2023 |
| Severe combined immunodeficiency disease | 1 | Aug 31, 2022 |
| Severe combined immunodeficiency due to DCLRE1C deficiency | 1 | Aug 31, 2022 |
| Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | 2 | Sep 17, 2024 |
| Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency | 1 | Oct 31, 2023 |
| Short stature | 1 | Aug 31, 2022 |
| Simpson-Golabi-Behmel syndrome type 1 | 1 | Aug 31, 2022 |
| Smith-Magenis syndrome | 2 | Aug 31, 2022 |
| Specific learning disability | 1 | Aug 31, 2022 |
| Surfactant metabolism dysfunction, pulmonary, 2 | 1 | Oct 31, 2023 |
| Syndromic X-linked intellectual disability Lubs type | 1 | Aug 31, 2022 |
| TCF12-related craniosynostosis | 1 | Sep 17, 2024 |
| TWIST1-related craniosynostosis | 1 | Oct 31, 2023 |
| Teebi hypertelorism syndrome 1 | 1 | Oct 31, 2023 |
| Telangiectasia, hereditary hemorrhagic, type 1 | 3 | Oct 31, 2023 |
| Telangiectasia, hereditary hemorrhagic, type 2 | 1 | Sep 17, 2024 |
| Telangiectasia, hereditary hemorrhagic, type 5 | 1 | Aug 31, 2022 |
| Tetrasomy 9p | 1 | Aug 31, 2022 |
| Thrombocytopenia 1 | 1 | Sep 17, 2024 |
| Trichorhinophalangeal dysplasia type I | 1 | Aug 31, 2022 |
| Trisomy 18 | 1 | Aug 31, 2022 |
| Trisomy X syndrome | 1 | Aug 31, 2022 |
| Turner syndrome | 5 | Aug 31, 2022 |
| Type 2 diabetes mellitus | 1 | Mar 17, 2022 |
| Vascular malformation | 2 | Jan 30, 2024 |
| Venous malformation | 2 | Jul 6, 2021 |
| Verrucous hemangioma | 1 | May 16, 2022 |
| Visceral myopathy 1 | 4 | Sep 17, 2024 |
| Visceral myopathy 2 | 1 | Feb 19, 2025 |
| Waardenburg syndrome type 1 | 1 | Aug 31, 2022 |
| Williams syndrome | 10 | Aug 31, 2022 |
| X-linked agammaglobulinemia | 1 | Sep 17, 2024 |
| X-linked ichthyosis with steryl-sulfatase deficiency | 1 | Aug 31, 2022 |
| Xq25 microduplication syndrome | 2 | Aug 31, 2022 |
| not provided | 129 | Sep 17, 2024 |
