| Myofibromatosis, Infantile, 1 |
|
Fibroma, Myofibromatosis |
OMIM:228550 |
| Melanoma-Pancreatic Cancer Syndrome |
|
Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Melano... |
OMIM:606719 |
| Multiple Fibroadenomas Of The Breast |
|
Fibroadenoma of the breast |
OMIM:615554 |
| Reticulum Cell Sarcoma |
|
Neoplasm, Sarcoma |
OMIM:267730 |
| Sarcoma, Synovial |
|
Synovial sarcoma |
OMIM:300813 |
| Alveolar Soft Part Sarcoma |
|
Alveolar soft part sarcoma |
OMIM:606243 |
| Epidermodysplasia Verruciformis, Susceptibility To, 3 |
|
Basal cell carcinoma, Verrucae, Squamous cell carcinoma |
OMIM:618267 |
| Tumor Predisposition Syndrome 4 |
|
Glioma, Meningioma, Breast carcinoma, Sarcoma |
OMIM:609265 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia |
ORPHA:231249 |
| Ewing Sarcoma |
|
Ewing sarcoma |
OMIM:612219 |
| Nut Midline Carcinoma |
|
Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell carcinoma, Neoplasm, Panc... |
ORPHA:443167 |
| Pleuropulmonary Blastoma |
|
Medulloblastoma, Pleuropulmonary blastoma, Rhabdomyosarcoma |
OMIM:601200 |
| Squamous Cell Carcinoma, Head And Neck |
|
Squamous cell carcinoma |
OMIM:275355 |
| Disseminated Superficial Actinic Porokeratosis |
|
Squamous cell carcinoma |
ORPHA:79152 |
| Fibromatosis, Gingival, 1 |
|
Gingival fibromatosis |
OMIM:135300 |
| Cheilitis Glandularis |
|
Abnormal salivary gland morphology, Neoplasm, Squamous cell carcinoma |
ORPHA:1221 |
| Rhabdomyosarcoma, Embryonal, 1 |
|
Embryonal rhabdomyosarcoma |
OMIM:268210 |
| Rhabdomyosarcoma 2 |
|
Alveolar rhabdomyosarcoma |
OMIM:268220 |
| Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
| Rhabdomyosarcoma, Embryonal, 2 |
|
Ovarian thecoma, Pleuropulmonary blastoma, Multinodular goiter, Embryonal rhabdomyosarcoma, Nephr... |
OMIM:180295 |
| Fibromatosis, Gingival, With Progressive Deafness |
|
Gingival fibromatosis |
OMIM:135550 |
| Li-Fraumeni Syndrome |
|
Astrocytoma, Neoplasm of the central nervous system, Neoplasm, Thyroid carcinoma, Prostate cancer... |
ORPHA:524 |
| Hereditary Gingival Fibromatosis |
|
Gingival fibromatosis |
ORPHA:2024 |
| Large Congenital Melanocytic Nevus |
|
Rhabdomyosarcoma, Neoplasm, Neoplasm of the skin, Cutaneous melanoma, Sarcoma |
ORPHA:626 |
| Chondrosarcoma |
|
Chondrosarcoma |
OMIM:215300 |
| Chondrosarcoma, Extraskeletal Myxoid |
|
Chondrosarcoma |
OMIM:612237 |
| Enchondromatosis, Multiple, Ollier Type |
|
Chondrosarcoma, Hemangioma, Multiple enchondromatosis |
OMIM:166000 |
| Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
| Fibromatosis, Gingival, 5 |
|
Gingival fibromatosis |
OMIM:617626 |
| Undifferentiated Pleomorphic Sarcoma |
|
Soft tissue sarcoma |
ORPHA:2023 |
| Desmoid Disease, Hereditary |
|
Desmoid tumors, Breast carcinoma |
OMIM:135290 |
| Dermatofibrosarcoma Protuberans |
|
Fibrosarcoma, Neoplasm of the skin |
ORPHA:31112 |
| Li-Fraumeni Syndrome |
|
Neoplasm of the pancreas, Adrenocortical carcinoma, Soft tissue sarcoma, Breast carcinoma, Acute ... |
OMIM:151623 |
| Hyperkeratosis Lenticularis Perstans |
|
Basal cell carcinoma, Squamous cell carcinoma |
ORPHA:409 |
| Colorectal Cancer, Susceptibility To, 12 |
|
Carcinoma |
OMIM:615083 |
| Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease |
|
Squamous cell carcinoma |
OMIM:613736 |
| Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
| Retinal Dysplasia, Primary |
|
Retinal dysplasia, Falciform retinal fold |
OMIM:312550 |
| Hereditary Leiomyomatosis And Renal Cell Cancer |
|
Cutaneous leiomyosarcoma, Multiple cutaneous leiomyomas, Uterine leiomyoma, Uterine leiomyosarcom... |
OMIM:150800 |
| Mismatch Repair Cancer Syndrome 1 |
|
Glioblastoma multiforme, Astrocytoma, Non-Hodgkin lymphoma, Rhabdomyosarcoma, Oligodendroglioma, ... |
OMIM:276300 |
| Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
| Gilles De La Tourette Syndrome |
|
Aggressive behavior, Phonic tics, Attention deficit hyperactivity disorder, Compulsive behaviors,... |
OMIM:137580 |
| Orofacial Cleft 11 |
|
Cleft lip, Cleft palate |
OMIM:600625 |
| Multiple Enchondromatosis, Maffucci Type |
|
Chondrosarcoma, Hemangioma, Multiple enchondromatosis |
OMIM:614569 |
| Familial Multinodular Goiter |
|
Alveolar rhabdomyosarcoma, Pleuropulmonary blastoma, Pilomatrixoma, Multinodular goiter, Ovarian ... |
ORPHA:276399 |
| Schöpf-Schulz-Passarge Syndrome |
|
Ovarian neoplasm, Basal cell carcinoma, Squamous cell carcinoma |
ORPHA:50944 |
| Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome |
|
Frontal bossing, Micrognathia, Hydrocephalus, Optic atrophy, Dolichocephaly, Dandy-Walker malform... |
ORPHA:1538 |
| 22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
| Microphthalmia, Syndromic 12 |
|
Anophthalmia, Ventricular septal defect, Intestinal malrotation, Micrognathia, Cryptorchidism, Hy... |
OMIM:615524 |
| Nthl1-Related Attenuated Familial Adenomatous Polyposis |
|
Endometrial carcinoma, Pancreatic adenocarcinoma, Seborrheic keratosis, Breast carcinoma, Squamou... |
ORPHA:454840 |
| Birt-Hogg-Dube Syndrome 1 |
|
Renal neoplasm, Cutaneous leiomyosarcoma, Trichodiscoma, Fibrofolliculoma, Multiple lipomas, Rena... |
OMIM:135150 |
| Microphthalmia, Isolated, With Coloboma 5 |
|
Anophthalmia, Bilateral microphthalmos, Orofacial cleft, Holoprosencephaly, Chorioretinal colobom... |
OMIM:611638 |
| Xeroderma Pigmentosum Variant |
|
Melanoma, Basal cell carcinoma, Squamous cell carcinoma |
ORPHA:90342 |
| Epidermodysplasia Verruciformis, Susceptibility To, 2 |
|
Verruca plana, Squamous cell carcinoma of the skin |
OMIM:618231 |
| Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
| Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
| Syngnathia |
|
Cleft palate |
OMIM:119550 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Neural tube defect, Gonadal dysgenesis, Retinal dysplasia, Type II lissencephaly |
OMIM:615041 |
| Congenital Hydrocephalus |
|
Abnormal cortical gyration, Hydrocephalus, Optic atrophy, Abnormal heart morphology, Colpocephaly... |
ORPHA:2185 |
| Pentosuria |
|
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level |
ORPHA:2843 |
| Milroy Disease |
|
Angiosarcoma, Hydrocele testis, Neoplasm of the skin |
ORPHA:79452 |
| Monocyte Chemotactic Disorder |
|
Cutaneous anergy |
OMIM:252250 |
| Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
| Delta-Beta-Thalassemia |
|
Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231237 |
| Schopf-Schulz-Passarge Syndrome |
|
Basal cell carcinoma, Poroma, Apocrine hidrocystoma, Squamous cell carcinoma |
OMIM:224750 |
| Chudley-Mccullough Syndrome |
|
Dysplastic corpus callosum, Hydrocephalus, Partial agenesis of the corpus callosum, Gray matter h... |
OMIM:604213 |
| Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
| Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
| Pierre Robin Syndrome |
|
Glossoptosis, Pierre-Robin sequence, Cor pulmonale, Cleft palate |
OMIM:261800 |
| Oral Submucous Fibrosis |
|
Oropharyngeal squamous cell carcinoma, Flexion contracture |
ORPHA:357154 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... |
OMIM:603902 |
| Junctional Epidermolysis Bullosa Inversa |
|
Basal cell carcinoma, Cutaneous melanoma, Squamous cell carcinoma |
ORPHA:79405 |
| Acalvaria |
|
Spina bifida, Hydrocephalus, Abnormality of neuronal migration, Cleft palate, Holoprosencephaly, ... |
ORPHA:945 |
| Paraneoplastic Pemphigus |
|
B-cell lymphoma, Thymoma, Sarcoma |
ORPHA:63455 |
| Hemoglobin H Disease |
|
Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
| Immunodeficiency 24 |
|
Decreased circulating IgG level, Lymphoproliferative disorder, Defective T cell proliferation, Re... |
OMIM:615897 |
| Trisomy 13 |
|
Anophthalmia, High, narrow palate, Atrial septal defect, Iris coloboma, Cryptorchidism, Patent du... |
ORPHA:3378 |
| Meckel Syndrome, Type 8 |
|
Encephalocele, Occipital encephalocele, Anophthalmia, Cleft upper lip, Pericardial effusion, Clef... |
OMIM:613885 |
| Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
| Colorectal Cancer |
|
Renal cell carcinoma, Uterine leiomyosarcoma, Transitional cell carcinoma of the bladder |
OMIM:114500 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
| Diabetic Embryopathy |
|
Frontal bossing, Ureteral duplication, Ventricular septal defect, Renal hypoplasia/aplasia, Micro... |
ORPHA:1926 |
| Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity, Bruxism, Aggressive behavior |
OMIM:615493 |
| Marcus-Gunn Syndrome |
|
Abnormal fifth cranial nerve morphology, Morning glory anomaly, Cleft lip, Nephrolithiasis, Cleft... |
ORPHA:91412 |
| Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Hydrocephalus, Ataxia, Abnormality of neuronal migration, Ventriculomegaly |
OMIM:618709 |
| Ophthalmoplegia, External, And Myopia |
|
Retinal degeneration, Spina bifida, Chorioretinal degeneration |
OMIM:311000 |
| Late-Onset Junctional Epidermolysis Bullosa |
|
Basal cell carcinoma, Cutaneous melanoma, Squamous cell carcinoma |
ORPHA:79406 |
| Xeroderma Pigmentosum, Complementation Group F |
|
Seborrheic keratosis, Flexion contracture, Keratoacanthoma, Squamous cell carcinoma, Basal cell c... |
OMIM:278760 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, B-cell lymphoma, Myelodysplasia, Hematological neoplasm, T-cell lymphoma,... |
ORPHA:158057 |
| Dural Sinus Malformation |
|
Papilledema, Ataxia, Cerebral hemorrhage, Subarachnoid hemorrhage, Myelopathy, Hydrocephalus, Cer... |
ORPHA:97339 |
| Joubert Syndrome 14 |
|
Encephalocele, Tented upper lip vermilion, Ventricular septal defect, Morning glory anomaly, Hydr... |
OMIM:614424 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Hydrocephalus, Polymicrogyria, Ventriculomegaly |
OMIM:615938 |
| Lissencephaly 1 |
|
Dilation of Virchow-Robin spaces, Subcortical band heterotopia, Gray matter heterotopia, Lissence... |
OMIM:607432 |
| Acquired Ichthyosis |
|
Neoplasm, Lymphoma, Multiple myeloma, Sarcoma |
ORPHA:454 |
| Craniofacial Conodysplasia |
|
Spinal cord compression, Hydrocephalus |
ORPHA:85168 |
| Ventricular Septal Defect 1 |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... |
OMIM:614429 |
| Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Ventricular septal defect, Spina bifida, Non-midline cleft lip, Anencephaly, Cleft palate, Aplasi... |
ORPHA:2476 |
| Phakomatosis Pigmentokeratotica |
|
Rhabdomyosarcoma, Cryptorchidism, Renal transitional cell carcinoma, Basal cell carcinoma, Pheoch... |
ORPHA:2874 |
| Ritscher-Schinzel Syndrome 1 |
|
Hypospadias, Decreased response to growth hormone stimulation test, Ventricular septal defect, Mi... |
OMIM:220210 |
| Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition |
|
Pilomatrixoma, Multinodular goiter, Embryonal rhabdomyosarcoma, Multiple enchondromatosis, Adenoc... |
OMIM:620189 |
| Pineocytoma |
|
Episodic ataxia, Hydrocephalus, Increased CSF protein concentration, Difficulty walking |
ORPHA:251912 |
| Combined Immunodeficiency Due To Dock8 Deficiency |
|
Squamous cell carcinoma of the vulva, Verrucae, Squamous cell carcinoma |
ORPHA:217390 |
| Hereditary Leiomyomatosis And Renal Cell Cancer |
|
Barrett esophagus, Multiple cutaneous leiomyomas, Vaginal neoplasm, Esophageal neoplasm, Papillar... |
ORPHA:523 |
| Chromosome 8Q12.1-Q21.2 Deletion Syndrome |
|
Hydrocephalus |
OMIM:600257 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Hydrocephalus, Polymicrogyria, Ventriculomegaly |
OMIM:615937 |
| Self-Improving Dystrophic Epidermolysis Bullosa |
|
Basal cell carcinoma, Cutaneous melanoma, Squamous cell carcinoma |
ORPHA:79411 |
| Epidermodysplasia Verruciformis |
|
Verrucae, Squamous cell carcinoma |
ORPHA:302 |
| Punctate Palmoplantar Keratoderma Type 1 |
|
Pancreatic adenocarcinoma, Brain neoplasm, Neoplasm of the skeletal system, Esophageal neoplasm, ... |
ORPHA:79501 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
11 pairs of ribs, Hypoplasia of penis, Anophthalmia, Hypospadias, Ventricular septal defect, Esop... |
ORPHA:77298 |
| Anencephaly 2 |
|
Anophthalmia, Median cleft lip, Anencephaly, Cleft maxillary alveolar ridge, Median cleft palate |
OMIM:619452 |
| Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Occipital encephalocele, Hydrocephalus, Orofacial cleft, Coloboma, Retinal dysplasia, Microphthalmia |
ORPHA:324416 |
| Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Bruxism, Aggressive behavior |
ORPHA:356996 |
| Maffucci Syndrome |
|
Neoplasm of the adrenal cortex, Chondrosarcoma, Astrocytoma, Hemangiomatosis, Neoplasm of the par... |
ORPHA:163634 |
| Lissencephaly 4 |
|
Colpocephaly, Agenesis of corpus callosum, Simplified gyral pattern, Lissencephaly |
OMIM:614019 |
| Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
| Hydrocephalus, Congenital, 1 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:236600 |
| Spina Bifida-Hypospadias Syndrome |
|
Hypospadias, Spina bifida, Spinal dysraphism |
ORPHA:3176 |
| Cutaneous Neuroendocrine Carcinoma |
|
Brain neoplasm, Lymphoid leukemia, Neoplasm of the outer ear, Basal cell carcinoma, Squamous cell... |
ORPHA:79140 |
| Pancreatic Cancer, Susceptibility To, 5 |
|
Melanoma, Pancreatic adenocarcinoma |
OMIM:618680 |
| Microphthalmia, Isolated, With Coloboma 10 |
|
Anophthalmia, Optic pit, Chorioretinal coloboma, Microphthalmia, Iris coloboma |
OMIM:616428 |
| Fryns Microphthalmia Syndrome |
|
Microphthalmia, Neural tube defect, Anophthalmia, Bilateral cleft lip and palate |
OMIM:600776 |
| Amish Lethal Microcephaly |
|
Death in infancy, Cleft soft palate, Spina bifida, Micrognathia, Optic atrophy, Organic aciduria,... |
ORPHA:99742 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hydrocephalus, Hypothyroidi... |
ORPHA:90065 |
| Megalencephaly, Autosomal Dominant |
|
Hydrocephalus |
OMIM:155350 |
| Epidermal Nevus Syndrome |
|
Lipoma, Weakness of long finger extensor muscles, Spinal cord tumor, Rhabdomyosarcoma |
ORPHA:35125 |
| Band Heterotopia |
|
Hydrocephalus, Subcortical band heterotopia, Gray matter heterotopia, Lateral ventricle dilatatio... |
OMIM:600348 |
| Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hypertension, Hydrocephalus, Agenesis of corpus callosum, Thrombocytopenia |
OMIM:166990 |
| Smith-Magenis syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation |
DECIPHER:8 |
| Frontal Encephalocele |
|
Encephalocele, Spina bifida, Hydrocephalus, Dolichocephaly, Calvarial skull defect |
ORPHA:1931 |
| Retinoblastoma |
|
Glioma, Rhabdomyosarcoma, Lymphoma, Pineoblastoma, Leiomyosarcoma, Melanoma, Retinoblastoma, Leuk... |
ORPHA:790 |
| Tumor Predisposition Syndrome 1 |
|
Uveal melanoma, Renal cell carcinoma, Cutaneous melanoma, Malignant mesothelioma, Lung adenocarci... |
OMIM:614327 |
| Hydrolethalus |
|
Anophthalmia, Micromelia, Micrognathia, Cryptorchidism, Hydrocephalus, Submucous cleft hard palat... |
ORPHA:2189 |
| Hyperlysinemia, Type I |
|
Hyperactivity, Hyperlysinemia, Anemia |
OMIM:238700 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:231393 |
| Congenital Heart Defects, Multiple Types, 4 |
|
Ventricular septal defect, Left ventricular outflow tract obstruction, Hypoplastic left heart, Ao... |
OMIM:615779 |
| Necrobiosis Lipoidica |
|
Squamous cell carcinoma |
ORPHA:542592 |
| Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
| Lissencephaly 3 |
|
Agyria, Ataxia, Periventricular laminar heterotopia, Gray matter heterotopia, Lissencephaly, Pach... |
OMIM:611603 |
| Progressive Osseous Heteroplasia |
|
Abnormality of the parathyroid gland, Sarcoma |
ORPHA:2762 |
| Neurofibromatosis, Type I |
|
Astrocytoma, Rhabdomyosarcoma, Neurofibroma, Optic nerve glioma, Pheochromocytoma, Meningioma, Pl... |
OMIM:162200 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Bicuspid aortic valve, Decreased response to growth hormone stimulation test, Pineal cyst, Atrial... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Bicuspid aortic valve, Decreased response to growth hormone stimulation test, Pineal cyst, Atrial... |
ORPHA:363958 |
| Neurocutaneous Melanocytosis |
|
Abnormality of retinal pigmentation, Meningocele, Abnormality of neuronal migration, Intracranial... |
ORPHA:2481 |
| Isolated Klippel-Feil Syndrome |
|
Ventricular septal defect, Spina bifida, Renal hypoplasia/aplasia, Cleft palate, Ectopic anus, An... |
ORPHA:2345 |
| Microphthalmia, Syndromic 11 |
|
Agenesis of pineal gland, Agenesis of corpus callosum, Cleft palate, Cleft upper lip |
OMIM:614402 |
| Adams-Oliver Syndrome 4 |
|
Ventricular septal defect, Patent ductus arteriosus, Short toe, Absent middle phalanx of the 3rd ... |
OMIM:615297 |
| Microphthalmia, Isolated, With Coloboma 6 |
|
Hypoplasia of the fovea, Coloboma, Bilateral microphthalmos, Optic disc hypoplasia |
OMIM:613703 |
| Holoprosencephaly 5 |
|
Syntelencephaly, Alobar holoprosencephaly, Hydrocephalus, Deep philtrum, Orofacial cleft, Lobar h... |
OMIM:609637 |
| Pelvis-Shoulder Dysplasia |
|
Aplasia/Hypoplasia of the ribs, Aplasia/Hypoplasia of the clavicles, Hydranencephaly, Spina bifid... |
ORPHA:2839 |
| Pseudo-Torch Syndrome 2 |
|
Ventriculomegaly, Cerebral hemorrhage, Secundum atrial septal defect, Thrombocytopenia, Patent du... |
OMIM:617397 |
| Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Aganglionic megacolon, Intraventricular hemorrhage, Hydrocephalus, Hydrocele testis, Short philtr... |
OMIM:613603 |
| Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Hydrocephalus |
ORPHA:2807 |
| Trisomy 1Q |
|
Microretrognathia, Frontal bossing, Multicystic kidney dysplasia, Small scrotum, Anophthalmia, Ve... |
ORPHA:261344 |
| Ichthyosis, Hystrix-Like, With Deafness |
|
Squamous cell carcinoma |
OMIM:602540 |
| Fried Syndrome |
|
Hydrocephalus, High palate, Short philtrum, Gait disturbance, Abnormal optic nerve morphology |
ORPHA:85335 |
| 1P31P32 Microdeletion Syndrome |
|
Intraventricular hemorrhage, Tethered cord, Ventriculomegaly, Moyamoya phenomenon |
ORPHA:401986 |
| Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
| Reversible Cerebral Vasoconstriction Syndrome |
|
Abnormal bleeding, Carotid artery dissection, Transient ischemic attack, Cerebral hemorrhage, Sub... |
ORPHA:284388 |
| Joubert Syndrome 15 |
|
Retinal dystrophy, Exencephaly, Coloboma, Nephronophthisis, Ambiguous genitalia, Micropenis, Reti... |
OMIM:614464 |
| Frontonasal Dysplasia 1 |
|
Median cleft lip, Hypoplasia of the maxilla, Hypoplastic frontal sinuses, Anterior basal encephal... |
OMIM:136760 |
| Familial Cervical Artery Dissection |
|
Carotid artery dissection, Transient ischemic attack, Diabetes mellitus, Subarachnoid hemorrhage,... |
ORPHA:36382 |
| Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
Squamous cell carcinoma of the skin, Verrucae |
OMIM:618309 |
| Atypical Teratoid Rhabdoid Tumor |
|
Hydrocephalus, Ataxia |
ORPHA:99966 |
| Oculocerebrocutaneous Syndrome |
|
Anophthalmia, Cryptorchidism, Orbital encephalocele, Cleft palate, Microphthalmia |
OMIM:164180 |
| Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome |
|
Hydrocephalus |
ORPHA:2703 |
| Focal Facial Dermal Dysplasia Type Iv |
|
Cleft upper lip, Hydrocephalus, Cleft palate, Intracranial hemorrhage, Abnormal mast cell morphology |
ORPHA:398189 |
| Ollier Disease |
|
Chondrosarcoma, Visceral angiomatosis, Multiple enchondromatosis, Neoplasm, Hemangioma, Sarcoma |
ORPHA:296 |
| Mosaic Trisomy 9 |
|
Hypoplasia of penis, Micromelia, Micrognathia, High palate, Abnormality of the uterus, Biparietal... |
ORPHA:99776 |
| Biemond Syndrome Type 2 |
|
Hypogonadotropic hypogonadism, Hypospadias, Hydrocephalus, Coloboma, Hypogonadism, Microphthalmia |
ORPHA:141333 |
| Xeroderma Pigmentosum, Variant Type |
|
Basal cell carcinoma, Cutaneous melanoma, Squamous cell carcinoma |
OMIM:278750 |
| Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Occipital encephalocele, Type II lissencephaly, Hydrocephalus, Optic atrophy, Gray matter heterot... |
ORPHA:352682 |
| Craniotelencephalic Dysplasia |
|
Frontal bossing, Septo-optic dysplasia, Craniosynostosis, Hydrocephalus, Frontal encephalocele, O... |
ORPHA:1528 |
| Basal Cell Nevus Syndrome 2 |
|
Angiofibromas, Neurofibroma, Medulloblastoma, Basal cell carcinoma, Meningioma |
OMIM:620343 |
| Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hydrocephalus, Optic atrophy, Simplified gyral pattern, Broad-based gait |
OMIM:619470 |
| Aneurysm, Intracranial Berry, 12 |
|
Internal carotid artery dissection, Subarachnoid hemorrhage, Fusiform cerebral aneurysm, Arterial... |
OMIM:618734 |
| Anophthalmia Plus Syndrome |
|
Anophthalmia, Spina bifida, Non-midline cleft lip, Cleft palate, Bilateral cleft lip and palate, ... |
ORPHA:1104 |
| Palatopharyngeal Incompetence |
|
Velopharyngeal insufficiency, Cleft palate |
OMIM:167500 |
| Palmoplantar Carcinoma, Multiple Self-Healing |
|
Carcinoma, Squamous cell carcinoma |
OMIM:615225 |
| Sonoda Syndrome |
|
Ventricular septal defect, Narrow mouth |
OMIM:270460 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Encephalocele, Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Ventricular septal defect,... |
ORPHA:1908 |
| Orofacial Cleft 5 |
|
Cleft palate, Cleft upper lip |
OMIM:608874 |
| Orofacial Cleft 6, Susceptibility To |
|
Cleft palate, Cleft upper lip |
OMIM:608864 |
| Orofacial Cleft 1 |
|
Cleft palate, Cleft upper lip |
OMIM:119530 |
| Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Normal pressure hydrocephalus, Gait disturbance, Ventriculomegaly |
OMIM:611808 |
| Orofacial Cleft 10 |
|
Unilateral cleft palate, Unilateral cleft lip |
OMIM:613705 |
| Moderate Hemophilia A |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Epidural hemorrhage, Prolonged bleeding after den... |
ORPHA:169805 |
| Czeizel-Losonci Syndrome |
|
Dextrocardia, Spina bifida, Micrognathia, Myelomeningocele, Hydrocephalus, Tracheoesophageal fist... |
ORPHA:2437 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Splenomegaly, Anemia |
ORPHA:46532 |
| Alg13-Cdg |
|
Abnormal lateral ventricle morphology, Long philtrum |
ORPHA:324422 |
| Palmoplantar Keratoderma-Xx Sex Reversal-Predisposition To Squamous Cell Carcinoma Syndrome |
|
Squamous cell carcinoma of the skin |
ORPHA:85112 |
| Burning Mouth Syndrome |
|
Abnormality of taste sensation, Parageusia, Abnormal fifth cranial nerve morphology, Abnormality ... |
ORPHA:353253 |
| Verheij Syndrome |
|
Branchial cyst, Thin upper lip vermilion, Ventricular septal defect, Optic nerve hypoplasia, Rena... |
OMIM:615583 |
| Liposarcoma |
|
Sarcoma |
ORPHA:69078 |
| Meige Disease |
|
Angiosarcoma |
ORPHA:90186 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Hydrocephalus, Retinal dysplasia, Type II lissencephaly, Ventriculomegaly |
OMIM:614830 |
| Brain Small Vessel Disease 2 |
|
Intracranial hemorrhage, Subcortical heterotopia, Polymicrogyria, Ventriculomegaly |
OMIM:614483 |
| Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Renal agenesis, Cleft palate, Abnormal heart morphology, Upper limb phocomelia, Abnormal cardiac ... |
ORPHA:294975 |
| Mmep Syndrome |
|
Mandibular prognathia, Median cleft lip, Ventricular septal defect, Cryptorchidism, Orofacial cle... |
ORPHA:3434 |
| Cutaneous Telangiectasia And Cancer Syndrome, Familial |
|
Actinic keratosis, Oropharyngeal squamous cell carcinoma, Breast carcinoma |
OMIM:614564 |
| Abruzzo-Erickson Syndrome |
|
Hypospadias, Cryptorchidism, Coronal hypospadias, Short toe, Cleft palate, Abnormal localization ... |
ORPHA:921 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Chronic neutropenia, Partial agenesis of the corpus callosum, Hydrocephalus, Simplified gyral pat... |
OMIM:619302 |
| Hallermann-Streiff Syndrome |
|
Selective tooth agenesis, Micrognathia, High, narrow palate, Brachycephaly, High palate, Choriore... |
OMIM:234100 |
| Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity, Abnormal repetitive mannerisms |
OMIM:300271 |
| Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Hydrocephalus, Periodontitis, Gingivitis, Abnormality of the dentition |
ORPHA:1008 |
| Retinoschisis 1, X-Linked, Juvenile |
|
Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula... |
OMIM:312700 |
| Exudative Vitreoretinopathy 7 |
|
Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration |
OMIM:617572 |
| Apc-Related Attenuated Familial Adenomatous Polyposis |
|
Neoplasm of the pancreas, Astrocytoma, Adrenocortical carcinoma, Pilomatrixoma, Medulloblastoma, ... |
ORPHA:247806 |
| Developmental And Epileptic Encephalopathy 36 |
|
Microretrognathia, Hydrocephalus, Optic atrophy, Small hand |
OMIM:300884 |
| Pierre Robin Syndrome And Oligodactyly |
|
Pierre-Robin sequence, Cleft palate |
OMIM:172880 |
| Fallot Complex With Severe Mental And Growth Retardation |
|
Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis |
OMIM:601127 |
| Bresek Syndrome |
|
Decreased testicular size, Hypoplasia of the bladder, Renal dysplasia, Aganglionic megacolon, Opt... |
ORPHA:85284 |
| Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome |
|
Tooth agenesis, Non-midline cleft lip, Cleft palate |
ORPHA:1074 |
| Mast Cell Sarcoma |
|
Sarcoma |
ORPHA:66661 |
| Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
OMIM:309548 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Retinal detachment, Type II lissencephaly, Pachygyria, Hydrocephalus, Simplified gyral pattern, L... |
OMIM:613153 |
| Masa Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum, Shuffling gait, Ventriculomegaly |
OMIM:303350 |
| Isolated Lissencephaly Type 1 Without Known Genetic Defects |
|
Enlarged sylvian cistern, Gray matter heterotopia, Pachygyria, Agyria, Ventriculomegaly |
ORPHA:1084 |
| Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Decreased testicular size, Hypergonadotropic hypogonadism, Decreased response to growth hormone s... |
ORPHA:280679 |
| Chromosome 15Q14 Deletion Syndrome |
|
Tented upper lip vermilion, Ventricular septal defect, Cleft lip, Cleft palate, Short philtrum, E... |
OMIM:616898 |
| Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome |
|
Thin upper lip vermilion, Abnormal lateral ventricle morphology, Gait imbalance, Gait ataxia |
ORPHA:488635 |
| Monosomy 9Q22.3 |
|
Odontogenic keratocysts of the jaw, Ovarian fibroma, Rhabdomyosarcoma, Medulloblastoma, Cardiac f... |
ORPHA:77301 |
| Walker-Warburg Syndrome |
|
Retinal detachment, Hypoplasia of penis, Anophthalmia, Retinal dystrophy, Chorioretinal dysplasia... |
ORPHA:899 |
| Cayler Cardiofacial Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect |
OMIM:125520 |
| Infantile Myofibromatosis |
|
Benign neoplasm of the central nervous system, Neoplasm of the pancreas, Gingival fibromatosis, N... |
ORPHA:2591 |
| Cerebrooculonasal Syndrome |
|
Encephalocele, Frontal bossing, Anophthalmia, Optic nerve hypoplasia, Proboscis, Craniosynostosis... |
OMIM:605627 |
| Congenital Muscular Dystrophy, Fukuyama Type |
|
Ventriculomegaly, Hydrocephalus, Optic atrophy, Brachycephaly, Plagiocephaly, Retinal dysplasia, ... |
ORPHA:272 |
| Fraxe Intellectual Disability |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
ORPHA:100973 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Microphthalmia, Coloboma, Uraciluria, Optic atrophy |
OMIM:274270 |
| Methylmalonic Acidemia With Homocystinuria |
|
Hydrocephalus, Retinopathy, Gait disturbance |
ORPHA:26 |
| Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Communicating hydrocephalus, Hydrocephalus, Optic atrophy, Simplified gyral pattern, Gray matter ... |
OMIM:615219 |
| Holoprosencephaly |
|
Hypoplasia of penis, Anophthalmia, Flat occiput, Deep philtrum, Holoprosencephaly, Chorioretinal ... |
ORPHA:2162 |
| Ankyloblepharon Filiforme Adnatum And Cleft Palate |
|
Cleft palate, Cleft upper lip |
OMIM:106250 |
| Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Abnormality of T cell physiology |
OMIM:308220 |
| Camptodactyly Syndrome, Guadalajara Type 1 |
|
Mandibular prognathia, Spina bifida, Open bite, Short toe, Abnormality of dental eruption, Dental... |
ORPHA:1327 |
| Proboscis Lateralis |
|
Anophthalmia, External genital hypoplasia, Orofacial cleft, Abnormality of the maxillary sinus, H... |
ORPHA:141099 |
| Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Ventricular septal defect, Hydrocephalus, Mitral regurgitation, Abnormal cardiac septum morpholog... |
ORPHA:83473 |
| Trisomy 18 |
|
Holoprosencephaly, Atrial septal defect, Iris coloboma, Microretrognathia, Spina bifida, Abnormal... |
ORPHA:3380 |
| Solitary Median Maxillary Central Incisor |
|
Anophthalmia, Decreased response to growth hormone stimulation test, Cleft upper lip, Prominent m... |
OMIM:147250 |
| Olivopontocerebellar Atrophy-Deafness Syndrome |
|
Ventriculomegaly, Optic atrophy, Chorioretinal coloboma |
ORPHA:2732 |
| Central Neurocytoma |
|
Abnormal lateral ventricle morphology, Ataxia, Hydrocephalus |
ORPHA:73256 |
| Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... |
OMIM:604169 |
| Neurooculocardiogenitourinary Syndrome |
|
Tricuspid regurgitation, Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Paten... |
OMIM:618652 |
| Hemophilia A |
|
Gastrointestinal hemorrhage, Intraventricular hemorrhage, Splenic rupture, Intracranial hemorrhag... |
ORPHA:98878 |
| Schisis Association |
|
Encephalocele, Renal agenesis, Spina bifida, Micromelia, Anencephaly, Tracheoesophageal fistula, ... |
ORPHA:63862 |
| 1Q21.1 Microduplication Syndrome |
|
Cryptorchidism, Hydrocephalus, Tetralogy of Fallot |
ORPHA:250994 |
| Microphthalmia, Syndromic 9 |
|
Anophthalmia, Micrognathia, Atrial septal defect, Neonatal death, Pulmonary artery atresia, Pelvi... |
OMIM:601186 |
| Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Bilateral cleft palate, Short femur, Ventricular septal defect, Bilateral cleft lip, Cleft upper ... |
OMIM:601357 |
| 2,4-Dienoyl-Coa Reductase Deficiency |
|
Ataxia, Hydrocephalus, Optic atrophy, Increased CSF lactate, Choreoathetosis, Colpocephaly, Incre... |
OMIM:616034 |
| Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Brachycephaly, Hypogonadism, High palate, Narrow mouth, Microphthalmia, Retrognathia |
ORPHA:2528 |
| Werner Syndrome |
|
Renal neoplasm, Skeletal muscle atrophy, Acral lentiginous melanoma, Breast carcinoma, Squamous c... |
ORPHA:902 |
| Microphthalmia, Isolated, With Coloboma 4 |
|
Microphthalmia, Coloboma |
OMIM:251505 |
| Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Death in infancy, Tricuspid regurgitation, Bicuspid aortic valve, Spina bifida, Short thumb, Pate... |
ORPHA:1120 |
| Lissencephaly 5 |
|
Occipital encephalocele, Hydrocephalus, Subcortical band heterotopia, Optic atrophy, Gray matter ... |
OMIM:615191 |
| Cerebral Cavernous Malformations |
|
Intracranial hemorrhage, Retinal vascular malformation, Cerebral cavernous malformation |
OMIM:116860 |
| Combined Oxidative Phosphorylation Deficiency 25 |
|
Smooth philtrum, Intraventricular hemorrhage, Long philtrum, Reduced circulating growth hormone c... |
OMIM:616430 |
| Diprosopus |
|
Abnormality of retinal pigmentation, Non-midline cleft lip, Abnormal cardiac septum morphology, C... |
ORPHA:1681 |
| Recessive Dystrophic Epidermolysis Bullosa Inversa |
|
Basal cell carcinoma, Cutaneous melanoma, Squamous cell carcinoma |
ORPHA:79409 |
| Congenital Heart Defects, Multiple Types, 5 |
|
Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Ao... |
OMIM:617912 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Mandibular prognathia, Bicuspid aortic valve, Micrognathia, Coloboma, Abnormal optic disc morphol... |
ORPHA:508498 |
| Exudative Vitreoretinopathy 3 |
|
Retinal detachment, Retinal exudate, Exudative vitreoretinopathy, Retinal hole, Retinal fold |
OMIM:605750 |
| Stankiewicz-Isidor Syndrome |
|
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Pineal cyst, Abnormal optic ... |
OMIM:617516 |
| Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
|
Mitral valve prolapse, Spina bifida, Long philtrum |
OMIM:211960 |
| Temtamy Syndrome |
|
Micrognathia, Short toe, Thick lower lip vermilion, Chorioretinal coloboma, Dolichocephaly, Micro... |
ORPHA:1777 |
| Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Cerebral h... |
OMIM:300845 |
| Caudal Duplication |
|
Abnormal penis morphology, Ureteral duplication, Spina bifida, Renal hypoplasia/aplasia, Cryptorc... |
ORPHA:1756 |
| Meckel Syndrome |
|
Ureteral duplication, Anophthalmia, Micrognathia, Urethral atresia, Encephalocele, Multicystic ki... |
ORPHA:564 |
| Isolated Dandy-Walker Malformation |
|
Encephalocele, Frontal bossing, Cleft palate, Prominent occiput, Platybasia, Tetralogy of Fallot |
ORPHA:217 |
| Congenital Heart Defects, Multiple Types, 2 |
|
Aortic regurgitation, Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Cong... |
OMIM:614980 |
| Congenital Laryngomalacia |
|
Non-midline cleft lip, Cleft palate |
ORPHA:2373 |
| Aplasia Cutis Congenita |
|
Prolonged bleeding time, Calvarial skull defect, Facial palsy, Spinal dysraphism |
ORPHA:1114 |
| Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Diabetes mellitus, Transient ischemic attack, Cerebral hemorrhage, Arterial stenosis, Intracrania... |
ORPHA:136 |
| Periventricular Nodular Heterotopia 1 |
|
Bicuspid aortic valve, Cerebral hemorrhage, Patent ductus arteriosus, Abnormality of neuronal mig... |
OMIM:300049 |
| Facial Clefting, Oblique, 1 |
|
Microphthalmia, Coloboma, Cleft palate, Cleft upper lip |
OMIM:600251 |
| Congenital Macroglossia |
|
Macroglossia, Neurofibroma |
ORPHA:2430 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Perisylvian polymicrogyria, Subdural hemorrhage, Lateral ventricle dilatation, Extra-axial cerebr... |
OMIM:618291 |
| Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Delayed eruption of teeth, Abnormality of the philtrum, Dextrocardia, Renal hypoplasia/aplasia, M... |
ORPHA:2863 |
| Trisomy 20P |
|
Micrognathia, Brachycephaly, Downturned corners of mouth, Short philtrum, Microdontia, Hypospadia... |
ORPHA:261318 |
| Atrial Septal Defect 2 |
|
Aortic regurgitation, Ventricular septal defect, Dextrocardia, Mitral regurgitation, Pulmonic ste... |
OMIM:607941 |
| Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Retinal dystrophy, Facial palsy, Inability to walk, Hydrocephalus, Abnormal left ventricular func... |
OMIM:613155 |
| Polymicrogyria With Optic Nerve Hypoplasia |
|
Optic nerve hypoplasia, Dysplastic corpus callosum, Colpocephaly, Polymicrogyria, Agenesis of cor... |
ORPHA:250972 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 9 |
|
Ataxia, Inability to walk, Hydrocephalus, Optic atrophy, Pachygyria |
OMIM:618174 |
| Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Mandibular prognathia, Tricuspid regurgitation, Anophthalmia, Dolichocephaly, Hypoplasia of the m... |
ORPHA:1101 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Dilated fourth ventricle, Occipital encephalocele, Retinal detachment, Optic nerve hypoplasia, Ty... |
ORPHA:370959 |
| Microcephaly-Cardiomyopathy Syndrome |
|
Abnormality of retinal pigmentation, Dilated cardiomyopathy, Ventricular septal defect, High, nar... |
ORPHA:2515 |
| Beemer Lethal Malformation Syndrome |
|
Hydrocephalus, Thrombocytopenia |
OMIM:209970 |
| Microphthalmia, Syndromic 5 |
|
Ectopic posterior pituitary, Anophthalmia, Retinal dystrophy, Optic nerve hypoplasia, Cryptorchid... |
OMIM:610125 |
| Ovarian Fibrothecoma |
|
Fibrosarcoma, Diffuse leiomyomatosis, Ovarian fibroma, Abnormality of the ovary |
ORPHA:314478 |
| Lissencephaly, X-Linked, 1 |
|
Ataxia, Gray matter heterotopia, Lissencephaly, Pachygyria, Agenesis of corpus callosum, Agyria |
OMIM:300067 |
| Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma |
|
Multinodular goiter, Squamous cell carcinoma |
OMIM:618373 |
| Microlissencephaly |
|
Subcortical heterotopia, Periventricular heterotopia, Simplified gyral pattern, Lissencephaly, Pa... |
ORPHA:1083 |
| Gombo Syndrome |
|
Microphthalmia, Abnormal heart morphology |
OMIM:233270 |
| Nemaline Myopathy 9 |
|
High palate, Ventricular septal defect, Cleft palate |
OMIM:615731 |
| Joubert Syndrome With Ocular Defect |
|
Encephalocele, Aganglionic megacolon, Retinal dystrophy, Dextrocardia, Ataxia, Hydrocephalus, Cle... |
ORPHA:220493 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Abnormal hemoglobin, Anemia |
ORPHA:3319 |
| Desmoid Tumor |
|
Fibroma, Neoplasm of the skin, Desmoid tumors |
ORPHA:873 |
| Intellectual Developmental Disorder, X-Linked 103 |
|
Wide mouth, Bilateral cryptorchidism, Lateral ventricle dilatation, Polymicrogyria |
OMIM:300982 |
| Familial Drusen |
|
Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... |
ORPHA:75376 |
| Recurrent Respiratory Papillomatosis |
|
Squamous cell carcinoma |
ORPHA:60032 |
| Pagod Syndrome |
|
Encephalocele, Death in infancy, Multicystic kidney dysplasia, Sudden cardiac death, Spina bifida... |
ORPHA:991 |
| Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Retinal detachment, Tented upper lip vermilion, Exaggerated cupid's bow, Ataxia, Periventricular ... |
OMIM:619833 |
| X-Linked Retinal Dysplasia |
|
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia |
ORPHA:1852 |
| Hypotonia, Infantile, With Psychomotor Retardation |
|
Cryptorchidism, Lateral ventricle dilatation, Ventricular septal defect, Open mouth |
OMIM:616816 |
| Cardiomyopathy, Dilated, 2G |
|
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Left atrial enlargement, Cerebral hem... |
OMIM:619897 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Encephalocele, Retinal detachment, Dandy-Walker malformation, Subcortical heterotopia, Remnants o... |
OMIM:614643 |
| Neu-Laxova Syndrome |
|
External genital hypoplasia, Micromelia, Micrognathia, Pachygyria, Bifid uvula, Dandy-Walker malf... |
ORPHA:2671 |
| Localized Dystrophic Epidermolysis Bullosa, Pretibial Form |
|
Basal cell carcinoma, Cutaneous melanoma, Squamous cell carcinoma |
ORPHA:79410 |
| Stickler Syndrome Type 2 |
|
Retinal detachment, Retinopathy, Abnormal vitreous humor morphology, Cleft palate |
ORPHA:90654 |
| Epilepsy, Early-Onset, 4, Vitamin B6-Dependent |
|
Hydrocephalus |
OMIM:266100 |
| Microcephalic Primordial Dwarfism Due To Znf335 Deficiency |
|
Simplified gyral pattern, Ventriculomegaly, Abnormal neuron morphology |
ORPHA:329228 |
| Diencephalic Syndrome |
|
Hydrocephalus, Optic atrophy, Everted lower lip vermilion, Long penis |
ORPHA:1672 |
| Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Ventriculomegaly, Midface retrusion, Micrognathia, Cryptorchidism, Hydrocephalus, Unilambdoid syn... |
OMIM:618577 |
| Cranioacrofacial Syndrome |
|
Ventricular septal defect, Pulmonic stenosis |
OMIM:122850 |
| Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Optic disc pallor, Death in infancy, Ventricular septal defect, Ectopic kidney, Cryptorchidism, N... |
OMIM:613730 |
| Cleft Palate-Lateral Synechia Syndrome |
|
Oral synechia, Everted lower lip vermilion, Cleft palate, Narrow mouth |
ORPHA:2016 |
| Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Thin upper lip vermilion, Ventricular septal defect, Patent ductus arteriosus, Lateral ventricle ... |
OMIM:618330 |
| Microphthalmia With Limb Anomalies |
|
Frontal bossing, Anophthalmia, Unilateral cryptorchidism, Cleft upper lip, Deep philtrum, Hand ol... |
OMIM:206920 |
| Hereditary Breast And/Or Ovarian Cancer Syndrome |
|
Neoplasm of the pancreas, Breast carcinoma, Ovarian neoplasm, Melanoma, Prostate cancer |
ORPHA:145 |
| Internal Carotid Absence |
|
Dilatation of the cerebral artery, Cerebral ischemia, Subarachnoid hemorrhage |
ORPHA:981 |
| 2Q24 Microdeletion Syndrome |
|
Cleft palate, Coloboma, Abnormal oral frenulum morphology, Short philtrum, Microphthalmia |
ORPHA:1617 |
| Cleft Palate, Isolated |
|
Anterior open-bite malocclusion, Increased overbite, Gingival overgrowth, Cleft palate |
OMIM:119540 |
| Genitopalatocardiac Syndrome |
|
Hypospadias, Ventricular septal defect, Cleft upper lip, Micrognathia, Cleft palate, Renal cyst, ... |
OMIM:231060 |
| Bowen-Conradi Syndrome |
|
Death in infancy, Micrognathia, Cryptorchidism, Orofacial cleft, Ventriculomegaly |
ORPHA:1270 |
| Vacterl With Hydrocephalus |
|
Absence of the sacrum, Anophthalmia, Renal agenesis, Spina bifida, Renal hypoplasia/aplasia, Aque... |
ORPHA:3412 |
| Hydrocephalus, Autosomal Dominant |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:123155 |
| Dandy-Walker Syndrome |
|
Dilated fourth ventricle, Hydrocephalus, Truncal ataxia |
OMIM:220200 |
| Nijmegen Breakage Syndrome |
|
Skeletal muscle atrophy, Glioma, B-cell lymphoma, Rhabdomyosarcoma, Lymphoma, T-cell lymphoma, Ac... |
ORPHA:647 |
| Dandy-Walker Malformation With Postaxial Polydactyly |
|
Dilated fourth ventricle, Vascular dilatation, Hydrocephalus, Patent ductus arteriosus, Chorioret... |
OMIM:220220 |
| Chiari Malformation Type Ii |
|
Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Gray matter heterotopia, Syri... |
OMIM:207950 |
| Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Megaloblastic anemia, Intraventricular hemorrhage, Cleft palate, Abnormal heart morphology, Neutr... |
ORPHA:79284 |
| Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Cleft upper lip, Cleft palate, Hematuria, Chorioretinal coloboma, Microphthalmia, Iris coloboma |
OMIM:120433 |
| Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Self-injurious behavior, Hyperactivity, Aggressive behavior |
OMIM:619031 |
| Congenital Disorder Of Glycosylation, Type Iid |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:607091 |
| Non-Syndromic Bilambdoid And Sagittal Craniosynostosis |
|
Frontal bossing, Craniosynostosis, Dolichocephaly, Micrognathia, Hydrocephalus, Patent ductus art... |
ORPHA:1516 |
| Edinburgh Malformation Syndrome |
|
U-Shaped upper lip vermilion, Hydrocephalus |
OMIM:129850 |
| Cofs Syndrome |
|
Abnormality of retinal pigmentation, Death in infancy, Micrognathia, Optic atrophy, Hypogonadism,... |
ORPHA:1466 |
| Stevenson-Carey Syndrome |
|
Recurrent urinary tract infections, Pierre-Robin sequence, Brachycephaly, Downturned corners of m... |
OMIM:611961 |
| Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Enlarged pituitary gland, Hypopituitarism, Hypogonadotropic hypogonadism, Diabetes insipidus, Hyd... |
ORPHA:91350 |
| Sneddon Syndrome |
|
Bicuspid aortic valve, Facial palsy, Cerebral hemorrhage, Hypertension, Stroke, Ischemic stroke, ... |
OMIM:182410 |
| Neurodevelopmental Disorder With Seizures And Gingival Overgrowth |
|
Jaw swelling, Optic atrophy, Gingival overgrowth, Ventriculomegaly |
OMIM:619323 |
| Sub-Cortical Nodular Heterotopia |
|
Polymicrogyria, Subcortical heterotopia, Agenesis of corpus callosum, Abnormality of neuronal mig... |
ORPHA:101029 |
| Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:85275 |
| Dworschak-Punetha Neurodevelopmental Syndrome |
|
Peripheral axonal neuropathy, Dilation of Virchow-Robin spaces, Optic disc hypoplasia, Dysplastic... |
OMIM:619955 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 11 |
|
Ventriculomegaly, High, narrow palate, Hydrocephalus, Ileus, Colpocephaly, High palate, Short phi... |
OMIM:620156 |
| Cyanosis, Transient Neonatal |
|
Reticulocytosis, Methemoglobinemia, Anemia |
OMIM:613977 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia, Chorioretinal dysplasia |
OMIM:616335 |
| Familial Adenomatous Polyposis 1 |
|
Astrocytoma, Adrenocortical carcinoma, Fibroadenoma of the breast, Medulloblastoma, Desmoid tumor... |
OMIM:175100 |
| Gómez-López-Hernández Syndrome |
|
Turricephaly, Hydrocephalus, Brachycephaly, Thin vermilion border, Midface retrusion |
ORPHA:1532 |
| Holoprosencephaly 9 |
|
Anophthalmia, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasi... |
OMIM:610829 |
| Microphthalmia, Syndromic 3 |
|
Optic nerve aplasia, Frontal bossing, Anophthalmia, Hypogonadotropic hypogonadism, Anterior pitui... |
OMIM:206900 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Dental crowding, Cardiomegaly, High, narrow palate, Pineal cyst, Widely spaced teeth, Short philt... |
OMIM:300967 |
| Neurodevelopmental Disorder With Seizures And Brain Abnormalities |
|
Thin upper lip vermilion, Tented upper lip vermilion, Dilation of Virchow-Robin spaces, Retinal p... |
OMIM:619517 |
| Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Colpocephaly, Pachygyria |
OMIM:614870 |
| Huriez Syndrome |
|
Squamous cell carcinoma of the skin |
OMIM:181600 |
| Craniofacial Dyssynostosis With Short Stature |
|
Frontal bossing, Hypospadias, Pyloric stenosis, Hydrocephalus, Cryptorchidism, Patent ductus arte... |
OMIM:218350 |
| Pierpont Syndrome |
|
Smooth philtrum, Cryptorchidism, Short toe, Brachycephaly, Micropenis, Prominent median palatal r... |
OMIM:602342 |
| Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome |
|
Delayed eruption of teeth, Wolff-Parkinson-White syndrome, Broad-based gait, Abnormal dental morp... |
ORPHA:369950 |
| Iniencephaly |
|
Encephalocele, Renal agenesis, Rhizomelia, Spina bifida, Abnormal occipital bone morphology, Hydr... |
ORPHA:63259 |
| Pseudotrisomy 13 Syndrome |
|
Encephalocele, 11 pairs of ribs, Ventricular septal defect, Dextrocardia, Renal agenesis, Cleft u... |
OMIM:264480 |
| Rabson-Mendenhall Syndrome |
|
Increased pineal volume, Atrial septal defect, Enlarged ovaries, Dental crowding, Ventricular sep... |
ORPHA:769 |
| Fanconi Anemia |
|
Micrognathia, High palate, Abnormality of the uterus, Atrial septal defect, Hypoplasia of the uln... |
ORPHA:84 |
| Gardner Syndrome |
|
Neoplasm of the pancreas, Brain neoplasm, Astrocytoma, Adrenocortical carcinoma, Pilomatrixoma, M... |
ORPHA:79665 |
| Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia, Retinal degeneration, Abnormality of the dentition |
OMIM:251700 |
| Cerebrooculonasal Syndrome |
|
Hypoplasia of penis, Anophthalmia, Brachycephaly, High palate, Widely spaced teeth, Solitary medi... |
ORPHA:66625 |
| Abeta Amyloidosis, Iowa Type |
|
Gait disturbance, Abnormal cerebral vascular morphology, Stroke, Cerebral hemorrhage |
ORPHA:324708 |
| Microphthalmia, Isolated 4 |
|
Microphthalmia, Coloboma, Absent testis |
OMIM:613094 |
| Corpus Callosum, Partial Agenesis Of, X-Linked |
|
Aganglionic megacolon, Hydrocephalus, Partial agenesis of the corpus callosum, High palate, Ventr... |
OMIM:304100 |
| Omphalocele-Cleft Palate Syndrome, Lethal |
|
Death in infancy, Hydrocephalus, Cleft palate, Bicornuate uterus, Bifid uvula |
OMIM:258320 |
| Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Gastrointestinal hemorrhage, Cerebral hemorrhage, Diffuse alveolar hemorrhage, Intestinal perfora... |
ORPHA:464321 |
| Cat Eye Syndrome |
|
Micrognathia, Chorioretinal coloboma, Atrial septal defect, Vesicoureteral reflux, Iris coloboma,... |
OMIM:115470 |
| Bilateral Striopallidodentate Calcinosis |
|
Thrombocytopenia, Subcutaneous hemorrhage, Abnormality of neuronal migration, Ventriculomegaly |
ORPHA:1980 |
| Focal Dermal Hypoplasia |
|
Hypoplasia of the iris, Chorioretinal coloboma, Iris coloboma, Multicystic kidney dysplasia, Abno... |
ORPHA:2092 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Abnormal spinal cord morphology, Hydrocephalus, Optic atrophy, Inability to walk by childhood/ado... |
ORPHA:99947 |
| Baraitser-Winter Syndrome 2 |
|
Thin upper lip vermilion, Orofacial cleft, Wide mouth, Coloboma, Long philtrum, Trigonocephaly, M... |
OMIM:614583 |
| 15Q24 Microdeletion Syndrome |
|
Smooth philtrum, Hypospadias, Decreased response to growth hormone stimulation test, Abnormality ... |
ORPHA:94065 |
| Pancreatic Cancer |
|
Neoplasm of the pancreas |
OMIM:260350 |
| Pseudoxanthoma Elasticum, Forme Fruste |
|
Gastrointestinal hemorrhage, Medial calcification of large arteries, Premature occlusive vascular... |
OMIM:177850 |
| Candidiasis, Familial, 1 |
|
Cutaneous anergy |
OMIM:114580 |
| Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
| Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Squamous cell carcinoma |
OMIM:243700 |
| Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microphthalmia, Abnormal calvaria morphology, Median cleft palate |
ORPHA:2432 |
| Microphthalmia, Isolated 8 |
|
Retinal detachment, Anophthalmia, Optic nerve hypoplasia, Hypoplastic optic chiasm, Retinal colob... |
OMIM:615113 |
| Mosaic Variegated Aneuploidy Syndrome |
|
Vaginal neoplasm, Rhabdomyosarcoma, Myelodysplasia, Acute lymphoblastic leukemia, Neoplasm, Muscu... |
ORPHA:1052 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:301008 |
| Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Short palm, Turricephaly, Hypospadias, Renal agenesis, Craniosynostosis, Micrognathia, Cryptorchi... |
ORPHA:171839 |
| Multifocal Atrial Tachycardia |
|
Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fibrillation, Paroxysmal atrial ta... |
ORPHA:3282 |
| Cerebral Visual Impairment |
|
Optic disc pallor, Optic nerve hypoplasia, Hydrocephalus, Optic atrophy, Retinopathy of prematuri... |
ORPHA:447788 |
| Aneurysm, Intracranial Berry, 2 |
|
Subarachnoid hemorrhage, Cerebral berry aneurysm |
OMIM:608542 |
| 3C Syndrome |
|
Adrenal hypoplasia, High, narrow palate, Orofacial cleft, Abnormal tricuspid valve morphology, Ch... |
ORPHA:7 |
| Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
| Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Frontal bossing, Hypoplasia of penis, Hydroureter, Abnormality of the upper urinary tract, Microg... |
ORPHA:2547 |
| Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
| Aneurysm, Intracranial Berry, 1 |
|
Intracranial hemorrhage, Dilatation of the cerebral artery |
OMIM:105800 |
| Methanol Poisoning |
|
Myocardial infarction, Cerebral hemorrhage, Inflammatory arteriopathy, Permanent atrial fibrillat... |
ORPHA:31825 |
| Meningioma |
|
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Neoplasm of th... |
ORPHA:2495 |
| Cerebrocostomandibular Syndrome |
|
Death in infancy, Multicystic kidney dysplasia, Ventricular septal defect, Spina bifida, Microgna... |
ORPHA:1393 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Encephalocele, Retinal detachment, Atrial septal defect, Agyria, Hydrocephalus, Dilated cardiomyo... |
OMIM:253800 |
| Non-Functioning Paraganglioma |
|
Paraganglioma of head and neck, Hypertensive retinopathy, Cerebral hemorrhage, Congestive heart f... |
ORPHA:94080 |
| Joubert Syndrome 3 |
|
Enlarged fossa interpeduncularis, Frontal polymicrogyria, Retinal dystrophy, Ataxia, Pigmentary r... |
OMIM:608629 |
| Meckel Syndrome, Type 4 |
|
Encephalocele, Ventricular septal defect, Hydrocephalus, Meningocele, Anencephaly, Cleft palate, ... |
OMIM:611134 |
| Pulmonary Atresia With Ventricular Septal Defect |
|
Ventricular septal defect |
OMIM:178370 |
| Aicardi Syndrome |
|
Retinal detachment, Prominence of the premaxilla, Spina bifida, Cleft upper lip, Hiatus hernia, C... |
OMIM:304050 |
| Baraitser-Winter Syndrome 1 |
|
Thin upper lip vermilion, Midface retrusion, Bicuspid aortic valve, Cleft upper lip, Cryptorchidi... |
OMIM:243310 |
| Carney Triad |
|
Gastrointestinal stroma tumor, Leiomyosarcoma, Adrenocortical adenoma, Pheochromocytoma, Paragang... |
ORPHA:139411 |
| Atrioventricular Septal Defect 5 |
|
Muscular ventricular septal defect, Atrioventricular canal defect, Hypoplastic left heart |
OMIM:614474 |
| 22Q11.2 Deletion Syndrome |
|
Micrognathia, Abnormal aortic arch morphology, Short philtrum, Abnormality of the uterus, Hypopla... |
ORPHA:567 |
| Basal Cell Nevus Syndrome 1 |
|
Mandibular prognathia, Frontal bossing, Odontogenic keratocysts of the jaw, Ovarian fibroma, Spin... |
OMIM:109400 |
| Joubert Syndrome 16 |
|
Encephalocele, Retinal dystrophy, Renal cyst, Coloboma, Nephronophthisis |
OMIM:614465 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Smooth philtrum, Ventricular septal defect, Hydrocephalus, Leukemia, Polymicrogyria, Ventriculome... |
OMIM:602501 |
| Holzgreve Syndrome |
|
Hypoplastic left heart, Cleft palate, Cleft upper lip |
OMIM:236110 |
| Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Retinal detachment, Optic atrophy, Bilateral cleft lip and palate, Hematuria, Chorioretinal colob... |
ORPHA:1473 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Ventriculomegaly, Type II lissencephaly, Hydrocephalus, Optic atrophy, Pigmentary retinopathy, La... |
OMIM:613154 |
| Primary Angiitis Of The Central Nervous System |
|
Cerebral vasculitis, Transient ischemic attack, Ataxia, CSF pleocytosis, Intracranial hemorrhage,... |
ORPHA:140989 |
| Congenital Toxoplasmosis |
|
Abnormality of retinal pigmentation, Cardiomegaly, Thrombocytopenia, Hydrocephalus, Lymphadenopat... |
ORPHA:858 |
| Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Frontal bossing, Cryptorchidism, Brachycephaly, Wide mouth, Macroglossia, Coloboma, Plagiocephaly... |
OMIM:616789 |
| Helsmoortel-Van Der Aa Syndrome |
|
Decreased response to growth hormone stimulation test, High, narrow palate, Pineal cyst, Oligodon... |
OMIM:615873 |
| Distal 7Q11.23 Microduplication Syndrome |
|
Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Frontal encephalocele, Aortic aneurysm |
ORPHA:261102 |
| Desmoplastic Small Round Cell Tumor |
|
Neoplasm of the pancreas, Testicular neoplasm, Ovarian neoplasm, Neoplasm of the central nervous ... |
ORPHA:83469 |
| Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Frontal bossing, Turricephaly, Hypoplasia of the maxilla, Hydrocephalus, Optic atrophy, Brachycep... |
ORPHA:93262 |
| Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Microphthalmia, Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:1574 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Frontal bossing, Cloverleaf skull, Ventricular septal defect, Rhizomelia, Micrognathia, Platybasi... |
ORPHA:93267 |
| Afibrinogenemia, Congenital |
|
Abnormal bleeding, Death in infancy, Epidural hemorrhage, Epistaxis, Hematemesis, Prolonged bleed... |
OMIM:202400 |
| Acrocallosal Syndrome |
|
Mandibular prognathia, Downturned corners of mouth, Coloboma, High palate, Short philtrum, Microp... |
OMIM:200990 |
| Attenuated Familial Adenomatous Polyposis |
|
Astrocytoma, Uterine leiomyoma, Papilloma, Thyroid adenoma, Adenocarcinoma of the colon, Fibroma |
ORPHA:220460 |
| Abetal34V Amyloidosis |
|
Abnormal cerebral vascular morphology, Stroke, Cerebral hemorrhage |
ORPHA:324703 |
| Microcephaly 19, Primary, Autosomal Recessive |
|
Extra-axial cerebrospinal fluid accumulation, Simplified gyral pattern, Ventriculomegaly |
OMIM:617800 |
| Acropectorovertebral Dysplasia |
|
High, narrow palate, Spina bifida, Cleft palate, Short distal phalanx of finger |
ORPHA:957 |
| Chromosome 6Q24-Q25 Deletion Syndrome |
|
Persistent fetal circulation, Thin upper lip vermilion, Tricuspid regurgitation, High, narrow pal... |
OMIM:612863 |
| Crouzon Syndrome |
|
Frontal bossing, Turricephaly, Hypoplasia of the maxilla, Hydrocephalus, Optic atrophy, Brachycep... |
ORPHA:207 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Anophthalmia, Chorioretinal dysplasia, Micrognathia, Epispadias, Vitritis, Retinal dysplasia, Abn... |
ORPHA:2556 |
| Van Der Woude Syndrome 1 |
|
Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula |
OMIM:119300 |
| Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Skeletal muscle atrophy, Limb-girdle muscle weakness, Histiocytoma, Limb muscle weakness, Myopath... |
OMIM:112250 |
| Cerebrooculofacioskeletal Syndrome 3 |
|
Microphthalmia, Cleft palate, Micrognathia |
OMIM:616570 |
| Oculofaciocardiodental Syndrome |
|
Delayed eruption of teeth, Peripheral pulmonary artery stenosis, Retinal detachment, Intestinal m... |
ORPHA:2712 |
| Halperin-Birk Syndrome |
|
Inability to walk, Optic atrophy, Colpocephaly, Perimembranous ventricular septal defect, High pa... |
OMIM:618651 |
| Wyburn-Mason Syndrome |
|
Peripheral arteriovenous fistula, Epistaxis, Abnormal cerebral vascular morphology, Cerebral hemo... |
ORPHA:53719 |
| Craniotelencephalic Dysplasia |
|
Microphthalmia, Frontal encephalocele, Optic nerve hypoplasia, Craniosynostosis |
OMIM:218670 |
| Fetal Minoxidil Syndrome |
|
Cryptorchidism, Umbilical hernia, Ventricular septal defect, Micrognathia |
ORPHA:1918 |
| Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Dilated fourth ventricle, Thin upper lip vermilion, Inability to walk, Downturned corners of mout... |
OMIM:613443 |
| Abruzzo-Erickson Syndrome |
|
Coloboma, Hypospadias, Cleft palate |
OMIM:302905 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Optic disc pallor, Macular atrophy, Micrognathia, Optic atrophy, Microphthalmia, Retinopathy |
OMIM:616171 |
| Pallister-Hall-Like Syndrome |
|
Occipital encephalocele, Death in infancy, Median cleft lip, Micromelia, Micrognathia, Hydrocepha... |
OMIM:241800 |
| Nijmegen Breakage Syndrome |
|
Lymphoma, Medulloblastoma, Glioma, Rhabdomyosarcoma |
OMIM:251260 |
| Fountain Syndrome |
|
Craniofacial hyperostosis, Spina bifida, Thick lower lip vermilion, Gingival overgrowth, Wide mou... |
ORPHA:3219 |
| Oculogastrointestinal Neurodevelopmental Syndrome |
|
Bicuspid aortic valve, Bilateral microphthalmos, Unilateral microphthalmos, Horseshoe kidney, Col... |
OMIM:619318 |
| 16Q24.3 Microdeletion Syndrome |
|
Ventriculomegaly, Ventricular septal defect, Optic nerve hypoplasia, Periventricular heterotopia,... |
ORPHA:261250 |
| Microphthalmia With Limb Anomalies |
|
Micrognathia, Venous insufficiency, Hypoplasia of the maxilla, High palate, Foot oligodactyly, Sh... |
ORPHA:1106 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 3 |
|
Subcortical band heterotopia, Gray matter heterotopia, Lissencephaly, Pachygyria, Agyria |
OMIM:615411 |
| Polymicrogyria Due To Tubb2B Mutation |
|
Perisylvian polymicrogyria, Gray matter heterotopia, Lateral ventricle dilatation, Lissencephaly,... |
ORPHA:300573 |
| Peho-Like Syndrome |
|
Optic atrophy, Retrognathia, Lissencephaly, Open mouth, Pachygyria, Polymicrogyria, Ventriculomegaly |
OMIM:617507 |
| Polyrrhinia |
|
Lateral ventricle dilatation, Abnormal third ventricle morphology, Orofacial cleft |
ORPHA:141091 |
| Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Ventricular septal defect, Protruding tongue, Cryptorchidism, Hydrocephalus, Patent ductus arteri... |
OMIM:612938 |
| X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Frontal bossing, Ventriculomegaly, Micrognathia, Hydrocephalus, Retrognathia, Chorioretinal colob... |
ORPHA:163961 |
| Hartsfield Syndrome |
|
Encephalocele, Craniosynostosis, Non-midline cleft lip, Cleft palate, Lobar holoprosencephaly, Ap... |
ORPHA:2117 |
| Fanconi Anemia, Complementation Group P |
|
Cryptorchidism, Squamous cell carcinoma |
OMIM:613951 |
| Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Encephalocele, Bifid scrotum, Abnormal penis morphology, Flat occiput, Hypospadias, Abnormal cort... |
ORPHA:2211 |
| Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
| Hydrolethalus Syndrome 2 |
|
Hydrocephalus, Anencephaly, Cleft palate, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:614120 |
| Hyperprolinemia, Type I |
|
Hyperactivity, Abnormal repetitive mannerisms, Hyperprolinemia, Aggressive behavior |
OMIM:239500 |
| Microphthalmia, Syndromic 2 |
|
Anophthalmia, Oligodontia, Fused teeth, Atrial septal defect, Iris coloboma, Bifid uvula, Hypospa... |
OMIM:300166 |
| Pancreatic Cancer, Susceptibility To, 1 |
|
Pancreatic adenocarcinoma |
OMIM:606856 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Ureteral duplication, Micrognathia, Brachycephaly, Vesicoureteral reflux, Axial malrotation of th... |
OMIM:274000 |
| 14Q11.2 Microdeletion Syndrome |
|
Exaggerated cupid's bow, Ventricular septal defect, Micrognathia, Deep philtrum, Patent ductus ar... |
ORPHA:261120 |
| Holoprosencephaly 13, X-Linked |
|
Septo-optic dysplasia, Median cleft lip, Ventricular septal defect, Optic nerve hypoplasia, Aloba... |
OMIM:301043 |
| Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Optic nerve hypoplasia, Lateral ventricle dilatation, Spina bifida occulta, Agenesis of corpus ca... |
OMIM:618736 |
| Central Precocious Puberty In Male |
|
Abnormality of the testis size, Pituitary microadenoma, Hydrocephalus, Hypothalamic hamartoma, Ab... |
ORPHA:649929 |
| Cerebral Cavernous Malformations 2 |
|
Cerebral cavernous malformation, Stroke, Cerebral hemorrhage, Telangiectasia |
OMIM:603284 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Absence of the sacrum, Tethered cord, Submucous cleft hard palate, Vesicoureteral reflux, Renal h... |
OMIM:617660 |
| Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies |
|
Macrodontia, Downturned corners of mouth, Tooth agenesis, Colpocephaly, Short philtrum, Polymicro... |
OMIM:618731 |
| Congenital Factor Xiii Deficiency |
|
Epistaxis, Cerebral hemorrhage, Joint hemorrhage, Prolonged bleeding after surgery, Post-partum h... |
ORPHA:331 |
| Mosaic Variegated Aneuploidy Syndrome 1 |
|
Cryptorchidism, Nephroblastoma, Embryonal rhabdomyosarcoma, Leukemia |
OMIM:257300 |
| Charge Syndrome |
|
Bifid scrotum, Anophthalmia, Aqueductal stenosis, Holoprosencephaly, Chorioretinal coloboma, Vesi... |
ORPHA:138 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies |
|
Exaggerated cupid's bow, Hypospadias, Micrognathia, Narrow mouth, Cryptorchidism, Patent ductus a... |
OMIM:618659 |
| 1Q44 Microdeletion Syndrome |
|
Frontal bossing, Ventriculomegaly, Exaggerated cupid's bow, Intestinal malrotation, Optic disc hy... |
ORPHA:238769 |
| Terminal Osseous Dysplasia |
|
Camptodactyly of toe, Fibroma, Multiple joint contractures, Camptodactyly of finger |
OMIM:300244 |
| Autosomal Recessive Spastic Paraplegia Type 66 |
|
Colpocephaly, Spastic gait, Difficulty walking |
ORPHA:401815 |
| Chromosome 13Q33-Q34 Deletion Syndrome |
|
Bifid scrotum, Irregular dentition, Tented upper lip vermilion, Micrognathia, Brachycephaly, Ante... |
OMIM:619148 |
| Williams-Beuren Region Duplication Syndrome |
|
Decreased response to growth hormone stimulation test, Diastema, Cryptorchidism, Hydrocephalus, P... |
OMIM:609757 |
| Microphthalmia With Brain And Digit Anomalies |
|
Anophthalmia, Retinal dystrophy, Cryptorchidism, High palate, Chorioretinal coloboma, Microphthal... |
ORPHA:139471 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Retinal detachment, Optic nerve hypoplasia, Hydrocephalus, Polymicrogyria, Type II lissencephaly |
OMIM:615181 |
| Leukoencephalopathy With Calcifications And Cysts |
|
Ataxia, Gait disturbance, Stroke, Cerebral hemorrhage |
ORPHA:542310 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Bicuspid aortic valve, Downturned corners of mouth, Coloboma, Oligodontia, High palate, Atrial se... |
ORPHA:453499 |
| Glycine Encephalopathy 1 |
|
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Hyperglycinemia |
OMIM:605899 |
| Developmental And Epileptic Encephalopathy 104 |
|
Self-injurious behavior, Hyperactivity, Agitation |
OMIM:619970 |
| Kleeblattschaedel |
|
Hydrocephalus, Cloverleaf skull, Craniosynostosis |
OMIM:148800 |
| Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Dilated fourth ventricle, Bicuspid aortic valve, Ventricular septal defect, Patent ductus arterio... |
OMIM:617751 |
| Biemond Syndrome Ii |
|
Abnormality of the endocrine system, Hydrocephalus |
OMIM:210350 |
| Sneddon Syndrome |
|
Intracranial hemorrhage, Hypertension, Nephropathy, Arterial stenosis |
ORPHA:820 |
| Otodental Dysplasia |
|
Delayed eruption of teeth, Agenesis of premolar, Tooth ankylosis, Coloboma, Pulp calcification, T... |
OMIM:166750 |
| Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia |
ORPHA:846 |
| Pancreatic Cancer, Susceptibility To, 2 |
|
Neoplasm of the pancreas |
OMIM:613347 |
| Fixed Subaortic Stenosis |
|
Aortic regurgitation, Paroxysmal atrial fibrillation, Bicuspid aortic valve, Ventricular septal d... |
ORPHA:3092 |
| Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Thin upper lip vermilion, Bicuspid aortic valve, Ventricular septal defect, Diastema, Cryptorchid... |
ORPHA:329224 |
| Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Everted upper lip vermilion, Broad-based gait, Ventricular septal defect, Absent cupid's bow, Abn... |
ORPHA:513456 |
| Waardenburg Syndrome Type 1 |
|
Mandibular prognathia, Tented upper lip vermilion, Aganglionic megacolon, Spina bifida, Cleft upp... |
ORPHA:894 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Anophthalmia, Atrial septal defect, Phocomelia, Microgastria, Multicystic kidney dysplasia, Aplas... |
ORPHA:2538 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Pulmonary embolism, Megaloblastic anemia, Neutropenia, Retinal degeneration, Ataxia, Dilated card... |
ORPHA:79282 |
| Microphthalmia, Isolated 5 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, F... |
OMIM:611040 |
| Cach Syndrome |
|
T2 hypointense thalamus, Optic atrophy, Dysmetria, Hepatosplenomegaly, Limb ataxia, Lateral ventr... |
ORPHA:135 |
| Cerebral Amyloid Angiopathy, Cst3-Related |
|
Intracranial hemorrhage, Stroke, Cerebral hemorrhage |
OMIM:105150 |
| Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Ventricular septal defect, Renal hypoplasia/aplasia, Micrognathia, Cryptorchidism, Cleft palate, ... |
ORPHA:1166 |
| Chromomycosis |
|
Multiple cutaneous malignancies, Squamous cell carcinoma |
ORPHA:182 |
| Charge Syndrome |
|
Anophthalmia, Decreased response to growth hormone stimulation test, External genital hypoplasia,... |
OMIM:214800 |
| Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, High, narrow palate, Hydrocephalus, Mitral valve prolapse, Abnorm... |
ORPHA:2183 |
| Limb Body Wall Complex |
|
Encephalocele, Ventricular septal defect, Abnormality of the kidney, Spina bifida, Aplasia/hypopl... |
ORPHA:2369 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Antenatal intracerebral hemorrhage, Cardiomegaly, Dilated cardiomyopathy, Abnormality of neuronal... |
OMIM:608836 |
| Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Abnormality of retinal pigmentation, Hydrocephalus, Bicuspid aortic valve |
ORPHA:397951 |
| Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
| Tarp Syndrome |
|
Atrial septal defect, Micrognathia, Hypoplasia of the radius, Optic atrophy, Tetralogy of Fallot,... |
OMIM:311900 |
| Congenital Factor V Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... |
ORPHA:326 |
| 17Q11 Microdeletion Syndrome |
|
Multiple mucosal neuromas, Brain neoplasm, Glioma, Cerebellar glioma, Rhabdomyosarcoma, Myelodysp... |
ORPHA:97685 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Ventricular septal defect, Ataxia, Inability to walk, Partial agenesis of the corpus callosum, In... |
ORPHA:79243 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Short humerus, Dextrocardia, Absent radius, Esophageal atresia, Hydrocephalus, Tracheoesophageal ... |
OMIM:314390 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Bicuspid aortic valve, Cardiomegaly, High, narrow palate, Descending thoracic aorta aneurysm, Abn... |
ORPHA:91387 |
| Mesoaxial Hexadactyly And Cardiac Malformation |
|
Atrial septal defect, Everted lower lip vermilion, Ventricular septal defect, Pulmonic stenosis |
OMIM:249670 |
| Pierpont Syndrome |
|
Smooth philtrum, Thin upper lip vermilion, Cryptorchidism, Short toe, Brachycephaly, Thin vermili... |
ORPHA:487825 |
| Fetal Trimethadione Syndrome |
|
Atrial septal defect, Hypospadias, Ventricular septal defect, Micrognathia, Brachycephaly, High p... |
ORPHA:1913 |
| Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Ventricular septal defect, Unilateral renal agenesis, Cleft palate, Hydranencephaly, Truncus arte... |
OMIM:601355 |
| Neurofibromatosis, Type Iii, Mixed Central And Peripheral |
|
Bilateral vestibular schwannoma, Paraspinal neurofibroma, Palmar neurofibroma, Lisch nodules, Men... |
OMIM:162260 |
| Enlarged Parietal Foramina |
|
Occipital encephalocele, Craniosynostosis, Parietal foramina, Cleft lip, Myelomeningocele, Cleft ... |
ORPHA:60015 |
| Pontocerebellar Hypoplasia, Type 1A |
|
Ataxia, Limb ataxia, Degeneration of anterior horn cells, Lateral ventricle dilatation, Tongue fa... |
OMIM:607596 |
| Catel-Manzke Syndrome |
|
Ventricular septal defect, Cleft palate, Glossoptosis, Atrial septal defect, Oral synechia |
ORPHA:1388 |
| Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Flexion contracture, Squamous cell carcinoma |
OMIM:226600 |
| Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Frontal bossing, Optic nerve hypoplasia, Cleft upper lip, High, narrow palate, Bilateral micropht... |
OMIM:607597 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Occipital encephalocele, Micrognathia, Coloboma, Retinal dysplasia, Pachygyria, Agenesis of corpu... |
OMIM:236670 |
| Rhabdoid Tumor |
|
Neoplasm of the central nervous system, Renal neoplasm, Sarcoma |
ORPHA:69077 |
| Triploidy |
|
Hypoplasia of penis, Hypospadias, Intestinal malrotation, Micrognathia, Cryptorchidism, Non-midli... |
ORPHA:3376 |
| Weiss-Kruszka Syndrome |
|
Ventriculomegaly, Exaggerated cupid's bow, Bicuspid aortic valve, Ventricular septal defect, Dext... |
OMIM:618619 |
| Neu-Laxova Syndrome 2 |
|
Spina bifida, Micrognathia, Cleft palate, High palate, Lissencephaly, Ventriculomegaly |
OMIM:616038 |
| Neurofibromatosis, Familial Spinal |
|
Symmetric spinal nerve root neurofibromas, Neurofibroma, Plexiform neurofibroma, Lisch nodules, L... |
OMIM:162210 |
| Non-24-Hour Sleep-Wake Syndrome |
|
Abnormal pineal melatonin secretion |
ORPHA:73267 |
| Adams-Oliver Syndrome 2 |
|
Hydrocephalus, Polymicrogyria, Optic atrophy, Lateral ventricle dilatation |
OMIM:614219 |
| Subependymal Nodular Heterotopia |
|
Occipital encephalocele, Partial agenesis of the corpus callosum, Meningocele, Myelomeningocele, ... |
ORPHA:101030 |
| Otodental Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Agenesis of premolar, Carious teeth... |
ORPHA:2791 |
| Thrombophilia Due To Protein S Deficiency, Autosomal Recessive |
|
Anemia, Purpura, Cerebral hemorrhage, Pulmonary embolism |
OMIM:614514 |
| Multiple Mitochondrial Dysfunctions Syndrome 5 |
|
Pigmentary retinopathy, Pachygyria, Ventriculomegaly |
OMIM:617613 |
| Thoraco-Abdominal Enteric Duplication |
|
Dextrocardia, Intestinal malrotation, Missing ribs, Diastomatomyelia, Meningocele, Duodenal steno... |
ORPHA:1759 |
| Arachnoid Cyst |
|
Encephalocele, Enlarged fossa interpeduncularis, Facial palsy, Subarachnoid hemorrhage, Spinal co... |
ORPHA:2356 |
| Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Ventriculomegaly, Akinesia, Hydrocephalus, Cleft palate, Hydranencephaly, Polymicrogyria, Agenesi... |
OMIM:225790 |
| Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Ventricular hypertrophy, Optic disc pallor, Pulmonary arterial hypertension, Long philtrum, Atria... |
OMIM:300887 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
| Coach Syndrome 1 |
|
Encephalocele, Optic disc pallor, Occipital encephalocele, Portal hypertension, Unilateral renal ... |
OMIM:216360 |
| Diamond-Blackfan Anemia 3 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia |
OMIM:610629 |
| Infantile Sialic Acid Storage Disease |
|
Cardiomegaly, Congestive heart failure, Hydrocephalus, Vacuolated lymphocytes, Splenomegaly, Ging... |
OMIM:269920 |
| Mismatch Repair Cancer Syndrome 4 |
|
Gray matter heterotopia, Adenomatous colonic polyposis, Agenesis of corpus callosum, Colon cancer |
OMIM:619101 |
| Hemimegalencephaly |
|
Abnormal neuron morphology, Optic atrophy, Cranial asymmetry, Gray matter heterotopia, Pachygyria... |
ORPHA:99802 |
| Desmosterolosis |
|
Intestinal malrotation, Abnormal cortical gyration, Splenomegaly, Hydrocephalus, Submucous cleft ... |
ORPHA:35107 |
| Glanzmann Thrombasthenia 1 |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Subdural hemorrhage, Intracrania... |
OMIM:273800 |
| Nanophthalmos |
|
Microphthalmia, Abnormality of retinal pigmentation, Abnormal choroid morphology |
ORPHA:35612 |
| Abeta Amyloidosis, Italian Type |
|
Stroke, Cerebral hemorrhage |
ORPHA:324713 |
| Thanatophoric Dysplasia Type 2 |
|
Encephalocele, Hydrocephalus, Patent ductus arteriosus, Abnormality of neuronal migration, Holopr... |
ORPHA:93274 |
| Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
| Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
| Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
| Immune Thrombocytopenia |
|
Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Thrombocytopenia, Gingival bleeding,... |
ORPHA:3002 |
| Recombinant Chromosome 8 Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Abnormality of the dentition, Micrognathia, ... |
OMIM:179613 |
| Papillon-Lefèvre Syndrome |
|
Melanoma, Neoplasm of the skin, Squamous cell carcinoma |
ORPHA:678 |
| Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Hypoplasia of penis, Micrognathia, Orofacial cleft, Holoprosencephaly, Encephalocele, Hypospadias... |
ORPHA:2166 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Carious teeth, Cryptorchidism, Hydrocephalus, Thick lower lip vermilion, Deep philtrum, Thin verm... |
ORPHA:2701 |
| Crouzon Syndrome |
|
Mandibular prognathia, Frontal bossing, Dental crowding, Sagittal craniosynostosis, Hypoplasia of... |
OMIM:123500 |
| Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Cryptorchidism, Hydrocephalus, Hypogonadism, Retinal coloboma, Microphthalmia, Rod-cone dystrophy |
OMIM:601794 |
| Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Mandibular prognathia, Retinal detachment, Optic nerve hypoplasia, Retinal telangiectasia, Microg... |
OMIM:620157 |
| 3P25.3 Microdeletion Syndrome |
|
Mandibular prognathia, Thin upper lip vermilion, Ventricular septal defect, Micrognathia, Congeni... |
ORPHA:435638 |
| Yoon-Bellen Neurodevelopmental Syndrome |
|
Optic atrophy, High palate, Scaphocephaly, Ventriculomegaly |
OMIM:619701 |
| Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Anophthalmia, Abnormal spaced incisors, Thick vermilion border, Everted lower lip vermilion, Shor... |
ORPHA:411986 |
| Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Lateral ventricle dilatation, Axonal loss, Gait disturbance, Abnormal upper motor neuron morpholo... |
OMIM:221770 |
| Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Thin upper lip vermilion, Ventricular septal defect, Unilateral renal agenesis, High, narrow pala... |
OMIM:618494 |
| Chromosome 3Q13.31 Deletion Syndrome |
|
Alobar holoprosencephaly, Dolichocephaly, Cryptorchidism, Brachycephaly, Plagiocephaly, High pala... |
OMIM:615433 |
| Holoprosencephaly 14 |
|
Ventriculomegaly, Median cleft lip, Ventricular septal defect, Alobar holoprosencephaly, Aqueduct... |
OMIM:619895 |
| Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation |
|
Ventricular septal defect, Thick lower lip vermilion, Widely-spaced maxillary central incisors, S... |
OMIM:608227 |
| Hydranencephaly |
|
Optic nerve hypoplasia, Antenatal intracerebral hemorrhage, Abnormal internal carotid artery morp... |
ORPHA:2177 |
| 8Q12 Microduplication Syndrome |
|
Ventricular septal defect, Narrow mouth, Brachycephaly, Vesicoureteral reflux, Short foot, Everte... |
ORPHA:228399 |
| Medulloblastoma |
|
Ataxia, Cerebellar hemorrhage, Hydrocephalus, Adenomatous colonic polyposis, Spinal cord tumor, D... |
ORPHA:616 |
| Circumvallate Placenta Syndrome |
|
Intracranial hemorrhage |
OMIM:215550 |
| Familial Scaphocephaly Syndrome, Mcgillivray Type |
|
Mandibular prognathia, Open bite, High palate, Dolichocephaly, Trigonocephaly, Midface retrusion,... |
ORPHA:168624 |
| Distal Deletion 13Q |
|
Encephalocele, Aplasia/Hypoplasia of the thumb, Renal hypoplasia/aplasia, Optic atrophy, Anenceph... |
ORPHA:1590 |
| Chromosome 17P13.1 Deletion Syndrome |
|
Turricephaly, Spina bifida, High, narrow palate, Hydrocephalus, Brachycephaly, Hydrocele testis, ... |
OMIM:613776 |
| Kapur-Toriello Syndrome |
|
Hypoplasia of penis, Ventricular septal defect, Intestinal malrotation, Patent ductus arteriosus,... |
ORPHA:2328 |
| Spinal Muscular Atrophy, Type I |
|
Atrial septal defect, Ventricular septal defect, Tongue fasciculations |
OMIM:253300 |
| Greig Cephalopolysyndactyly Syndrome |
|
Frontal bossing, Hypospadias, Craniosynostosis, Cryptorchidism, Hydrocephalus, Scaphocephaly, Abn... |
OMIM:175700 |
| Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia |
OMIM:156850 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Macroorchidism, Congestive heart failure, Hydrocephalus, Cardiomegaly |
OMIM:300886 |
| Cardiomyopathy, Dilated, 2D |
|
Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscular ventricular septal def... |
OMIM:619371 |
| Eng-Strom Syndrome |
|
Abnormal cardiac septum morphology, Ventricular septal defect |
ORPHA:1937 |
| Familial Exudative Vitreoretinopathy |
|
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... |
ORPHA:891 |
| Hypophosphatasia, Infantile |
|
Death in infancy, Elevated urine pyrophosphate, Craniosynostosis, Abnormality of the dentition, M... |
OMIM:241500 |
| Alexander Disease |
|
Hydrocephalus, Ataxia, Increased CSF protein concentration, Dysmetria |
OMIM:203450 |
| Neurooculorenal Syndrome |
|
Ventriculomegaly, Decreased circulating cortisol level, Ectopic posterior pituitary, Intestinal m... |
OMIM:620305 |
| Oslam Syndrome |
|
Neoplasm, Osteosarcoma |
OMIM:165660 |
| Lissencephaly 8 |
|
Occipital encephalocele, Ventriculomegaly, Optic atrophy, Polymicrogyria, Agyria, Type II lissenc... |
OMIM:617255 |
| Coloboma Of Macula With Type B Brachydactyly |
|
Coloboma, Renal agenesis |
OMIM:120400 |
| Papillary Tumor Of The Pineal Region |
|
Episodic ataxia, Hydrocephalus, Increased CSF protein concentration, Difficulty walking |
ORPHA:251915 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Retinal detachment, Optic disc pallor, Abnormality of retinal pigmentation, Retinal dystrophy, Ch... |
OMIM:251270 |
| Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Encephalocele, Frontal bossing, Small scrotum, Abnormality of the dentition, Conical tooth, Crypt... |
ORPHA:228390 |
| Intellectual Developmental Disorder, Autosomal Recessive 73 |
|
Ventricular septal defect, Patent ductus arteriosus, Deep philtrum, Widely spaced teeth, Dolichoc... |
OMIM:619717 |
| 16P13.11 Microdeletion Syndrome |
|
Thin upper lip vermilion, Ventriculomegaly, Exaggerated cupid's bow, Ventricular septal defect, C... |
ORPHA:261236 |
| Sirenomelia |
|
Absence of the sacrum, Spina bifida, Renal hypoplasia/aplasia, Tracheoesophageal fistula, Sirenom... |
ORPHA:3169 |
| Congenital Sialidosis Type 2 |
|
Hypoplasia of the fovea, Abnormal EKG, Ataxia, Protruding tongue, Hydrocephalus, Optic atrophy, G... |
ORPHA:93400 |
| Leukoencephalopathy With Vanishing White Matter 5 |
|
Loss of ambulation, Lateral ventricle dilatation, Dilated third ventricle |
OMIM:620315 |
| Xk Aprosencephaly Syndrome |
|
Ventricular septal defect, Abnormal external genitalia, Narrow mouth, Atrial septal defect, Micro... |
ORPHA:3469 |
| Megabladder, Congenital |
|
Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompa... |
OMIM:618719 |
| Lumbar Syndrome |
|
Bifid scrotum, Hypospadias, Renal agenesis, Spina bifida, Bifid uterus, Cryptorchidism, Myelomeni... |
ORPHA:83628 |
| Beckwith-Wiedemann Syndrome |
|
Nephroblastoma, Rhabdomyosarcoma, Congenital diaphragmatic hernia, Diastasis recti, Adrenocortica... |
ORPHA:116 |
| Spondylodysplastic Ehlers-Danlos Syndrome |
|
Prominent scalp veins, Agenesis of pineal gland, Abnormal heart valve morphology, Optic nerve hyp... |
ORPHA:536471 |
| Kapur-Toriello Syndrome |
|
Ventricular septal defect, Intestinal malrotation, Cleft upper lip, Cryptorchidism, Patent ductus... |
OMIM:244300 |
| Fraser Syndrome |
|
Hypoplasia of penis, Small scrotum, Dental crowding, Anophthalmia, Calvarial skull defect, Orofac... |
ORPHA:2052 |
| Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Fusion of the left and right thalami, Hydrocephalus, Unsteady gait, Agenesis of corpus callosum |
OMIM:617542 |
| Tuberous Sclerosis 2 |
|
Chordoma, Astrocytoma, Angiofibromas, Retinal hamartoma, Ependymoma, Gingival fibromatosis, Subep... |
OMIM:613254 |
| Chromosome 6Pter-P24 Deletion Syndrome |
|
Tented upper lip vermilion, Dental crowding, Ventricular septal defect, Cleft upper lip, Patent f... |
OMIM:612582 |
| Cerebral Cavernous Malformations 3 |
|
Cerebral cavernous malformation, Cerebral hemorrhage |
OMIM:603285 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Telangiectasia of the skin, Hydrocephalus, Optic atrophy, Wide mouth, Cerebral ischemia, Arteriov... |
ORPHA:60040 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Renal cyst, Lobulated tongue, Short tibia, Unicoronal synostosis, Encephalocele, Microretrognathi... |
OMIM:616300 |
| Mirage Syndrome |
|
Hypergonadotropic hypogonadism, Adrenal hypoplasia, Cryptorchidism, Hydrocephalus, Patent ductus ... |
OMIM:617053 |
| Anencephaly 1 |
|
Anencephaly, Spina bifida |
OMIM:206500 |
| Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, El... |
ORPHA:232 |
| Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:617113 |
| Distal Monosomy 7Q36 |
|
Hypoplasia of penis, Micrognathia, Cryptorchidism, Non-midline cleft lip, Optic atrophy, Cleft pa... |
ORPHA:1636 |
| Lung Cancer |
|
Alveolar cell carcinoma, Lung adenocarcinoma, Non-small cell lung carcinoma |
OMIM:211980 |
| Snakebite Envenomation |
|
Abnormal bleeding, Tachycardia, Epistaxis, Myocardial infarction, Cardiogenic shock, Intracranial... |
ORPHA:449285 |
| Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Bifid scrotum, Turricephaly, Cloverleaf skull, Craniosynostosis, Dolichocephaly, Cryptorchidism, ... |
ORPHA:1555 |
| Primary Ciliary Dyskinesia |
|
Abnormal inferior vena cava morphology, Atrial situs ambiguous, Abnormal atrial arrangement, Inte... |
ORPHA:244 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Frontal bossing, Tethered cord, Exaggerated cupid's bow, Spina bifida, Dolichocephaly, Cyst of th... |
OMIM:619480 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Ventricular septal defect, Hydrocephalus, Vascular ring, Mitral regurgitation, Atrial septal defe... |
OMIM:603387 |
| Multiple Endocrine Neoplasia, Type Iv |
|
Hyperparathyroidism, Elevated circulating growth hormone concentration, Pancreatic endocrine tumo... |
OMIM:610755 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Cone/cone-rod dystrophy, Ventricular septal defect, Situs inversus totalis, Cryptorchidism, Optic... |
OMIM:249270 |
| Cockayne Syndrome Type 1 |
|
Mandibular prognathia, Absent brainstem auditory responses, Renal insufficiency, Anophthalmia, Pr... |
ORPHA:90321 |
| Joubert Syndrome |
|
Encephalocele, Aganglionic megacolon, Ataxia, Situs inversus totalis, Hydrocephalus, Abnormality ... |
ORPHA:475 |
| Caspase 8 Deficiency |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:607271 |
| Superficial Siderosis |
|
Abnormal bleeding, Enlarged sylvian cistern, Increased CSF protein concentration, Ataxia, Subarac... |
ORPHA:247245 |
| Neu-Laxova Syndrome 1 |
|
Micromelia, Swollen lip, Micrognathia, Neonatal death, Patent foramen ovale, Spina bifida, Cleft ... |
OMIM:256520 |
| Bardet-Biedl Syndrome 19 |
|
Cone/cone-rod dystrophy, Renal insufficiency, Ventricular septal defect, External genital hypopla... |
OMIM:615996 |
| Iron-Refractory Iron Deficiency Anemia |
|
Elevated circulating hepcidin concentration, Poikilocytosis, Hypochromic microcytic anemia, Aniso... |
OMIM:206200 |
| Chromosome 13Q14 Deletion Syndrome |
|
Thin upper lip vermilion, Frontal bossing, Ventricular septal defect, Supernumerary nipple, Dolic... |
OMIM:613884 |
| Temple Syndrome |
|
Decreased testicular size, Frontal bossing, Micrognathia, Precocious puberty, Cryptorchidism, Hyd... |
OMIM:616222 |
| Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Mandibular prognathia, Ventricular septal defect, Aplasia/Hypoplasia of the distal phalanges of t... |
ORPHA:94066 |
| Rere-Related Neurodevelopmental Syndrome |
|
Frontal bossing, Hypospadias, Ventricular septal defect, Micrognathia, Cryptorchidism, Optic atro... |
ORPHA:494344 |
| Lissencephaly 6 With Microcephaly |
|
Thin upper lip vermilion, Periventricular heterotopia, Partial agenesis of the corpus callosum, S... |
OMIM:616212 |
| Fibular Hemimelia |
|
Anophthalmia, Short femur, Craniosynostosis, Spina bifida, Short toe, Fibular hypoplasia, Abnorma... |
ORPHA:93323 |
| Fanconi Anemia, Complementation Group I |
|
Ventricular septal defect, Optic nerve hypoplasia, Decreased response to growth hormone stimulati... |
OMIM:609053 |
| Familial Multiple Nevi Flammei |
|
Pulmonary embolism, Venous insufficiency, Intracranial hemorrhage, Arteriovenous malformation, Ar... |
ORPHA:624 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Abnormal bleeding, Pancytopenia, Ventricular septal defect, Abnormal cortical gyration, Thrombocy... |
OMIM:614576 |
| Joubert Syndrome With Renal Defect |
|
Encephalocele, Aganglionic megacolon, Ataxia, Hydrocephalus, Cleft palate, Orofacial cleft, Gait ... |
ORPHA:220497 |
| Joubert Syndrome 22 |
|
Microphthalmia, Coloboma, Retinal dysplasia, Renal hypoplasia |
OMIM:615665 |
| Jacobsen Syndrome |
|
Iris coloboma, Abnormality of the anus, Death in infancy, Multicystic kidney dysplasia, Spina bif... |
ORPHA:2308 |
| Duane-Radial Ray Syndrome |
|
Optic disc hypoplasia, Vesicoureteral reflux, Atrial septal defect, Spina bifida occulta, Iris co... |
OMIM:607323 |
| Immunodeficiency, Common Variable, 2 |
|
Impaired T cell function, Lymphoma, Neoplasm, Decreased circulating IgG level, Partial absence of... |
OMIM:240500 |
| Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Hydranencephaly, Dandy-Walker malformation |
OMIM:617967 |
| Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant |
|
Knee flexion contracture, Elbow flexion contracture, Squamous cell carcinoma |
OMIM:148210 |
| Muscle-Eye-Brain Disease |
|
Hydrocephalus, Meningocele, Optic atrophy, Gait disturbance, Holoprosencephaly |
ORPHA:588 |
| Temtamy Syndrome |
|
Aortic regurgitation, Frontal bossing, Dental crowding, Micrognathia, Hypoplasia of teeth, Short ... |
OMIM:218340 |
| Focal Dermal Hypoplasia |
|
Ureteral duplication, Anophthalmia, Short metatarsal, Anteriorly placed anus, Oligodontia, Clitor... |
OMIM:305600 |
| Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Microphthalmia, Coloboma, Iris coloboma |
OMIM:610023 |
| Cat-Eye Syndrome |
|
Renal hypoplasia/aplasia, Abnormal localization of kidney, Hydronephrosis, Chorioretinal coloboma... |
ORPHA:195 |
| Treacher-Collins Syndrome |
|
Hypoplasia of penis, Small scrotum, Micrognathia, Hypoplasia of the maxilla, Brachycephaly, Gloss... |
ORPHA:861 |
| Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity |
|
Bicuspid aortic valve, Hydrocephalus, Aortic valve stenosis |
OMIM:615599 |
| Coach Syndrome 2 |
|
Hypertension, Hydrocephalus, Agenesis of corpus callosum, Chorioretinal coloboma |
OMIM:619111 |
| Congenital Muscular Dystrophy Without Intellectual Disability |
|
Gray matter heterotopia, Facial diplegia, Tip-toe gait, Difficulty walking, Pachygyria, Ventricul... |
ORPHA:370980 |
| Meckel Syndrome, Type 5 |
|
Occipital encephalocele, Cleft upper lip, Anencephaly, Cleft palate, Renal cyst, Bile duct prolif... |
OMIM:611561 |
| Nevus Comedonicus Syndrome |
|
Spina bifida occulta, Spina bifida |
ORPHA:64754 |
| Long Qt Syndrome 16 |
|
T-wave alternans, Second degree atrioventricular block, Perimembranous ventricular septal defect,... |
OMIM:618782 |
| Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome |
|
Short fourth metatarsal, Cryptorchidism, Gingival overgrowth, Pseudohypoparathyroidism, Abnormal ... |
ORPHA:464288 |
| Glutaryl-Coa Dehydrogenase Deficiency |
|
Communicating hydrocephalus, Ataxia, Subdural hemorrhage, Retinal hemorrhage, Athetosis, Subepend... |
ORPHA:25 |
| Tetraamelia-Multiple Malformations Syndrome |
|
Septo-optic dysplasia, Multicystic kidney dysplasia, Micrognathia, Missing ribs, Cryptorchidism, ... |
ORPHA:3301 |
| Microphthalmia, Isolated, With Coloboma 7 |
|
Microphthalmia, Iris coloboma, Inferior chorioretinal coloboma |
OMIM:614497 |
| Familial Cerebral Saccular Aneurysm |
|
Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh... |
ORPHA:231160 |
| Cloacal Exstrophy |
|
Hypoplasia of penis, Hydroureter, Intestinal malrotation, Spina bifida, Ectopic kidney, Renal hyp... |
ORPHA:93929 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
| Pontocerebellar Hypoplasia, Type 13 |
|
Thin upper lip vermilion, Macrodontia, Inability to walk, Gait ataxia, Lateral ventricle dilatati... |
OMIM:618606 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Atrial septal defect, Overriding aorta, Ventricular septal defect, Junctional ectopic tachycardia... |
OMIM:309801 |
| Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Atrial septal defect, Crossed fused renal ectopia, Hypoplastic right heart, Ventricular septal de... |
OMIM:618142 |
| Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis |
|
Hydrocephalus |
OMIM:236660 |
| Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Lymphoproliferative disorder, B-cell lymphoma, Lymphoma, Decreased specific anti-polysaccharide a... |
OMIM:300853 |
| Congenital Disorder Of Glycosylation, Type Iit |
|
Tented upper lip vermilion, Pineal cyst, Iron deficiency anemia, Thick vermilion border, Short ph... |
OMIM:618885 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Ventriculomegaly, Ventricular septal defect, Splenomegaly, Hydrocephalus, Orofacial cleft, Retina... |
OMIM:615630 |
| Joubert Syndrome With Oculorenal Defect |
|
Encephalocele, Renal insufficiency, Aganglionic megacolon, Retinal dystrophy, Hydrocephalus, Abno... |
ORPHA:2318 |
| Nanophthalmos 4 |
|
Microphthalmia, Optic disc drusen |
OMIM:615972 |
| Malan Overgrowth Syndrome |
|
Optic disc pallor, Optic disc hypoplasia, Lateral ventricle dilatation, High palate, Narrow mouth... |
ORPHA:420179 |
| Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Tented upper lip vermilion, Periventricular heterotopia, Retinal pigment epithelial mottling, Lat... |
OMIM:614105 |
| Chromosome 1Q41-Q42 Deletion Syndrome |
|
Thin upper lip vermilion, Frontal bossing, Tented upper lip vermilion, Ventricular septal defect,... |
OMIM:612530 |
| Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome |
|
Death in infancy, Micrognathia, Optic atrophy, Abnormal palate morphology, Narrow mouth, Ventricu... |
ORPHA:1495 |
| Edinburgh Malformation Syndrome |
|
Frontal bossing, Micrognathia, Hydrocephalus, Abnormality of neuronal migration, Downturned corne... |
ORPHA:1895 |
| Aicardi-Goutieres Syndrome 4 |
|
Ventriculomegaly, Pancytopenia, Splenomegaly, Hydrocephalus, Hepatosplenomegaly, CSF lymphocytic ... |
OMIM:610333 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Thin upper lip vermilion, Absent gallbladder, Hypospadias, Ventricular septal defect, Cryptorchid... |
ORPHA:163979 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 4 |
|
Thin upper lip vermilion, Tented upper lip vermilion, Inability to walk, Cleft palate, Lateral ve... |
OMIM:615716 |
| Neural Tube Defects, Susceptibility To |
|
Absence of the sacrum, Urinary incontinence, Hydrocephalus, Myelomeningocele, Anencephaly, Spina ... |
OMIM:182940 |
| Penoscrotal Transposition |
|
Abnormal external genitalia, Hypospadias, Renal agenesis, Micrognathia, Abnormality of the urethr... |
ORPHA:2842 |
| Apert Syndrome |
|
Delayed eruption of teeth, Frontal bossing, Mandibular prognathia, Cloverleaf skull, Aplasia/Hypo... |
ORPHA:87 |
| 6P22 Microdeletion Syndrome |
|
Patent ductus arteriosus, Hydrocephalus, Abnormal palate morphology |
ORPHA:251046 |
| Vitamin K Antagonist Embryofetopathy |
|
Myelomeningocele, Hydrocephalus, Optic atrophy, Macroglossia, Short distal phalanx of finger |
ORPHA:1914 |
| Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Hypoplasia of penis, Anophthalmia, External genital hypoplasia, Cryptorchidism, Submucous cleft h... |
ORPHA:2250 |
| Xeroderma Pigmentosum, Complementation Group E |
|
Melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin |
OMIM:278740 |
| Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Aortic regurgitation, High, narrow palate, Hydrocephalus, Gait disturbance, Umbilical hernia |
ORPHA:2181 |
| Hemiparkinsonism-Hemiatrophy Syndrome |
|
Lateral ventricle dilatation, Difficulty walking |
ORPHA:306669 |
| Tricuspid Atresia |
|
Ventricular septal defect, Hypoplasia of right ventricle, Transposition of the great arteries, At... |
ORPHA:1209 |
| Warburg Micro Syndrome 1 |
|
External genital hypoplasia, Micrognathia, Cryptorchidism, Optic atrophy, Thin vermilion border, ... |
OMIM:600118 |
| Periventricular Nodular Heterotopia 7 |
|
Optic disc pallor, Dental crowding, Ventricular septal defect, Ataxia, Cryptorchidism, Pierre-Rob... |
OMIM:617201 |
| Carpenter Syndrome 1 |
|
External genital hypoplasia, Micrognathia, Hypoplasia of the maxilla, Brachycephaly, High palate,... |
OMIM:201000 |
| Cerebral Amyloid Angiopathy, App-Related |
|
Tortuous cerebral arteries, Subarachnoid hemorrhage, Cerebellar hemorrhage, Recurrent cerebral he... |
OMIM:605714 |
| Lissencephaly Syndrome, Norman-Roberts Type |
|
Abnormal retinal morphology, 4-layered lissencephaly, Abnormality of neuronal migration, Microlis... |
ORPHA:89844 |
| Lateral Meningocele Syndrome |
|
Dental crowding, Bicuspid aortic valve, Micrognathia, High palate, Long philtrum, Tethered cord, ... |
OMIM:130720 |
| Hereditary Hemorrhagic Telangiectasia |
|
Conjunctival telangiectasia, Abnormal cerebral vascular morphology, Pulmonary embolism, Retinal t... |
ORPHA:774 |
| Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Retinal detachment, Frontal bossing, Micrognathia, Brachycephaly, Cleft palate, Oligosacchariduri... |
ORPHA:163649 |
| Leber Congenital Amaurosis |
|
Encephalocele, Abnormality of retinal pigmentation, Abnormal optic disc morphology, Abnormality o... |
ORPHA:65 |
| Fibronectin Glomerulopathy |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Cerebral hemorrhage, Hypertension, Nephrotic sy... |
ORPHA:84090 |
| Monosomy 18P |
|
Micrognathia, Carious teeth, Brachycephaly, Cleft palate, Downturned corners of mouth, Hypertensi... |
ORPHA:1598 |
| Autosomal Recessive Primary Microcephaly |
|
Thin upper lip vermilion, Gray matter heterotopia, Pachygyria, Agenesis of corpus callosum, Ventr... |
ORPHA:2512 |
| Multiple Benign Circumferential Skin Creases On Limbs |
|
Small scrotum, Hypospadias, Micrognathia, Cryptorchidism, Congestive heart failure, Cleft palate,... |
ORPHA:2505 |
| Microphthalmia, Syndromic 8 |
|
Mandibular prognathia, Cleft upper lip, Cryptorchidism, Cleft palate, Orofacial cleft, Widely-spa... |
OMIM:601349 |
| Rubinstein-Taybi Syndrome 1 |
|
Dental crowding, Premature thelarche, Micrognathia, Bilateral cryptorchidism, High, narrow palate... |
OMIM:180849 |
| Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Atrial fibrillation, Ventricular septal defect, Secundum atrial septal defect, Prolonged PR inter... |
OMIM:108900 |
| Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Thin upper lip vermilion, Tricuspid regurgitation, Dextrocardia, Supernumerary nipple, Periventri... |
OMIM:618929 |
| Albers-Schönberg Osteopetrosis |
|
Frontal bossing, Facial palsy, Abnormality of the dentition, Carious teeth, Mandibular osteomyeli... |
ORPHA:53 |
| Parkes Weber Syndrome |
|
Abnormal bleeding, Peripheral arteriovenous fistula, Cerebral arteriovenous malformation, Subarac... |
ORPHA:90307 |
| Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Abnormality of the kidney, Sagittal craniosynostosis, Micrognathia, Hydrocephalus, Scaphocephaly,... |
ORPHA:459061 |
| 14Q24.1Q24.3 Microdeletion Syndrome |
|
Thin upper lip vermilion, Atrial septal defect, Ventricular septal defect, Intestinal malrotation... |
ORPHA:401935 |
| Diffuse Gastric And Lobular Breast Cancer Syndrome |
|
Stomach cancer, Atrophic gastritis, Cleft palate, Cleft upper lip |
OMIM:137215 |
| White Matter Hypoplasia-Corpus Callosum Agenesis-Intellectual Disability Syndrome |
|
Frontal bossing, Ventriculomegaly, Micrognathia |
ORPHA:3207 |
| Congenital Factor Ii Deficiency |
|
Abnormal bleeding, Epistaxis, Joint hemorrhage, Prolonged bleeding following procedure, Post-part... |
ORPHA:325 |
| Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Spastic ataxia, Optic nerve hypoplasia, Inability to walk, Partial agenesis of the corpus callosu... |
ORPHA:300570 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity, Inflexible adherence to routines |
OMIM:301076 |
| Fg Syndrome Type 1 |
|
Dental crowding, Fused teeth, High palate, Atrial septal defect, Malrotation of colon, Cryptorchi... |
ORPHA:93932 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Intraventricular hemorrhage, Prolonged prothrombin time, Increased CSF lactate |
OMIM:619055 |
| Fryns Syndrome |
|
Tented upper lip vermilion, Micrognathia, Abnormal aortic arch morphology, High palate, Vesicoure... |
ORPHA:2059 |
| Craniosynostosis, Herrmann-Opitz Type |
|
Turricephaly, Craniosynostosis, Abnormality of the upper urinary tract, Abnormality of the urethr... |
ORPHA:2145 |
| Congenital Plasminogen Activator Inhibitor Type 1 Deficiency |
|
Gastrointestinal hemorrhage, Epidural hemorrhage, Miscarriage, Prolonged bleeding after dental ex... |
ORPHA:465 |
| Meckel Syndrome, Type 2 |
|
Encephalocele, Intestinal malrotation, Meningocele, Anencephaly, Cleft palate, Renal cyst, Bile d... |
OMIM:603194 |
| Hereditary Pheochromocytoma-Paraganglioma |
|
Hypertensive retinopathy, Cranial nerve compression, Adrenal pheochromocytoma, Positive regitine ... |
ORPHA:29072 |
| Jacobsen Syndrome |
|
Atrial septal defect, Flat occiput, Hypospadias, Ventricular septal defect, Micrognathia, Missing... |
OMIM:147791 |
| Hogue-Janssen Syndrome 2 |
|
Tented upper lip vermilion, Inability to walk, Hydrocephalus, Gait ataxia, Open mouth, Agenesis o... |
OMIM:616362 |
| Temple Syndrome |
|
Decreased response to growth hormone stimulation test, Precocious puberty, Cryptorchidism, Hydroc... |
ORPHA:254516 |
| Fraser Syndrome 1 |
|
Aplasia/Hypoplasia of the thumb, Anophthalmia, Dental crowding, Micropenis, Abnormality of the an... |
OMIM:219000 |
| Steinfeld Syndrome |
|
Absent gallbladder, Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Missing ribs, Hypopl... |
OMIM:184705 |
| Leukemia, Acute, X-Linked |
|
Acute leukemia |
OMIM:308960 |
| Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Lateral ventricle dilatation, Ataxia |
OMIM:615889 |
| Bonnemann-Meinecke-Reich Syndrome |
|
Micrognathia, Decreased response to growth hormone stimulation test, Ventriculomegaly, Dolichocep... |
ORPHA:1261 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Type II lissencephaly, Hydrocephalus, Lissencephaly, Agenesis of corpus callosum, Agyria, Retinal... |
OMIM:615249 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Hypertensive retinopathy, Cerebral... |
ORPHA:276621 |
| Polycythemia Vera |
|
Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobi... |
OMIM:263300 |
| Unilateral Hemispheric Polymicrogyria |
|
Lateral ventricle dilatation |
ORPHA:101071 |
| Acromelic Frontonasal Dysostosis |
|
Encephalocele, Hypopituitarism, Dilation of Virchow-Robin spaces, Remnants of the hyaloid vascula... |
OMIM:603671 |
| Pentalogy Of Cantrell |
|
Encephalocele, Absent gallbladder, Ventricular septal defect, Abnormal pericardium morphology, Hy... |
ORPHA:1335 |
| Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Mandibular prognathia, Thin upper lip vermilion, Retinal detachment, Flat occiput, Chorioretinal ... |
OMIM:152950 |
| Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities |
|
Micrognathia, Fetal pyelectasis, Perisylvian polymicrogyria, Absent uvula, Dolichocephaly, Ventri... |
OMIM:616531 |
| Distal Duplication 5Q |
|
Hypoplasia of the ulna, Hypospadias, Ventricular septal defect, Craniosynostosis, Dextrocardia, C... |
ORPHA:96097 |
| Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Microretrognathia, Frontal bossing, Dolichocephaly, Cleft lip, Deep philtrum, Cleft palate, Abnor... |
OMIM:618571 |
| Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Glossoptosis, Ventricular septal defect |
OMIM:614876 |
| Nephronophthisis 18 |
|
Retinitis, Hydrocephalus, Stage 5 chronic kidney disease, Thickened glomerular basement membrane,... |
OMIM:615862 |
| Optic Pathway Glioma |
|
Papilledema, Precocious puberty, Hydrocephalus, Neurofibroma, Optic atrophy |
ORPHA:2086 |
| Ventriculomegaly With Defects Of The Radius And Kidney |
|
Vascular dilatation, Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation |
OMIM:602200 |
| Familial Adenomatous Polyposis 3 |
|
Endometrial carcinoma, Pancreatic adenocarcinoma, Breast carcinoma, Bladder neoplasm, Basal cell ... |
OMIM:616415 |
| Meacham Syndrome |
|
Bicuspid aortic valve, Blind vagina, Death in childhood, Atrial septal defect, Scimitar anomaly, ... |
OMIM:608978 |
| Retinoblastoma |
|
Lymphoma, Retinoblastoma, Leukemia, Ewing sarcoma, Pinealoma, Osteosarcoma |
OMIM:180200 |
| Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities |
|
Lateral ventricle dilatation, Simplified gyral pattern |
OMIM:617668 |
| Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity |
|
Pachygyria, Lissencephaly, Polymicrogyria, Ventriculomegaly |
OMIM:618730 |
| Retinitis Pigmentosa 13 |
|
Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce... |
OMIM:600059 |
| Seckel Syndrome 2 |
|
Hypospadias, Ectopic kidney, Micrognathia, Heart murmur, Microdontia, Microphthalmia, Microglossia |
OMIM:606744 |
| Alexander Disease Type I |
|
Hydrocephalus, Ataxia, Abnormal thalamic MRI signal intensity |
ORPHA:363717 |
| Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Anal stenosis, Vertebral artery hypoplasia, Unilateral vertebral artery hypoplasia, Dextrocardia,... |
OMIM:613686 |
| Cockayne Syndrome Type 2 |
|
Mandibular prognathia, Anophthalmia, Delayed eruption of primary teeth, Cryptorchidism, Male hypo... |
ORPHA:90322 |
| Trisomy 17P |
|
Hypoplasia of penis, Urethral valve, Micrognathia, Hydrocephalus, Patent ductus arteriosus, Ureth... |
ORPHA:261290 |
| Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Mandibular prognathia, Ventricular septal defect, Cryptorchidism, Bilateral microphthalmos, Brach... |
ORPHA:369891 |
| Congenital Factor Vii Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Post-partum hemorrhage,... |
ORPHA:327 |
| Renpenning Syndrome 1 |
|
Mandibular prognathia, Micrognathia, Brachycephaly, Coloboma, High palate, Short philtrum, Death ... |
OMIM:309500 |
| Xeroderma Pigmentosum, Complementation Group C |
|
Actinic keratosis, Basal cell carcinoma, Squamous cell carcinoma of the skin, Cutaneous melanoma |
OMIM:278720 |
| Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Thin upper lip vermilion, Tented upper lip vermilion, Cryptorchidism, Simplified gyral pattern, L... |
OMIM:619244 |
| Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
High palate, Atrial septal defect, Pachygyria, Agenesis of corpus callosum, Tricuspid regurgitati... |
OMIM:614866 |
| 22Q11.2 Duplication Syndrome |
|
Ventricular septal defect, Micrognathia, Urethral stenosis, Cleft palate, Hydronephrosis, Hypopla... |
ORPHA:1727 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Mandibular prognathia, Persistence of primary teeth, Carious teeth, Mandibular osteomyelitis, Hyd... |
OMIM:259710 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Frontal bossing, Death in infancy, Rhizomelia, Micrognathia, Hydrocephalus, Wide mouth, Short foo... |
ORPHA:163966 |
| Reticular Dysgenesis |
|
Impaired T cell function, Lack of T cell function |
OMIM:267500 |
| Giant Axonal Neuropathy 1, Autosomal Recessive |
|
Decreased number of peripheral myelinated nerve fibers, Facial palsy, Lateral ventricle dilatatio... |
OMIM:256850 |
| Beare-Stevenson Cutis Gyrata Syndrome |
|
Bifid scrotum, Natal tooth, Midface retrusion, Flat occiput, Hypospadias, Cloverleaf skull, Crani... |
OMIM:123790 |
| Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Thin upper lip vermilion, Ventricular septal defect, Intestinal malrotation, Micrognathia, Crypto... |
ORPHA:404440 |
| Krabbe Disease |
|
Autoimmune thrombocytopenia, Decreased nerve conduction velocity, Hydrocephalus, Optic atrophy, I... |
OMIM:245200 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Intestinal pseudo-obstruction, Bicuspid aortic valve, High, narrow palate, Downturned corners of ... |
ORPHA:453504 |
| Emanuel Syndrome |
|
Dental crowding, High palate, Atrial septal defect, Agenesis of corpus callosum, Bifid uvula, Dan... |
ORPHA:96170 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Intestinal pseudo-obstruction, Bicuspid aortic valve, High, narrow palate, Downturned corners of ... |
ORPHA:352665 |
| 2Q31.1 Microdeletion Syndrome |
|
Short palm, Atrial septal defect, Ventricular septal defect, Micrognathia, Cryptorchidism, Deep p... |
ORPHA:251014 |
| Erythrocytosis, Familial, 2 |
|
Cerebral hemorrhage, Increased hemoglobin, Increased red blood cell mass, Varicose veins, Stroke,... |
OMIM:263400 |
| Intellectual Developmental Disorder, Autosomal Dominant 56 |
|
Thin upper lip vermilion, Broad-based gait, Ataxia, Inability to walk, Lateral ventricle dilatati... |
OMIM:617854 |
| Oculoauriculofrontonasal Syndrome |
|
Encephalocele, Ventricular septal defect, Micrognathia, Cleft lip, Cleft palate, Narrow mouth, Br... |
ORPHA:398156 |
| Trichothiodystrophy 1, Photosensitive |
|
Basal cell carcinoma, Flexion contracture, Squamous cell carcinoma |
OMIM:601675 |
| Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity |
|
Lateral ventricle dilatation, Optic nerve hypoplasia |
OMIM:618890 |
| Vacterl/Vater Association |
|
Bifid scrotum, Occipital encephalocele, Hypoplasia of penis, Multicystic kidney dysplasia, Hyposp... |
ORPHA:887 |
| Congenital Gerbode Defect |
|
Elevated right atrial pressure, Tricuspid regurgitation, Ventricular septal defect, Left-to-right... |
ORPHA:99095 |
| Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Flat occiput, Dental crowding, External genital hypoplasia, Micrognathia, Coloboma, High palate, ... |
ORPHA:251028 |
| Pelvis-Shoulder Dysplasia |
|
Hypoplastic scapulae, Optic disc coloboma, Short clavicles, Microphthalmia, Spina bifida occulta,... |
OMIM:169550 |
| Microphthalmia, Syndromic 13 |
|
Microphthalmia, Iris coloboma, Chorioretinal coloboma, Widely-spaced incisors |
OMIM:300915 |
| Riddle Syndrome |
|
Conjunctival telangiectasia, Generalized lymphadenopathy, Ataxia, Intraventricular hemorrhage, Te... |
ORPHA:420741 |
| Severe Hemophilia A |
|
Gastrointestinal hemorrhage, Epidural hemorrhage, Epistaxis, Prolonged bleeding after surgery, Pr... |
ORPHA:169802 |
| Oculoectodermal Syndrome |
|
Transient ischemic attack, Supernumerary nipple, Patent ductus arteriosus, Chorioretinal atrophy,... |
OMIM:600268 |
| Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy |
|
Lateral ventricle dilatation, Tented upper lip vermilion, Long philtrum |
OMIM:619972 |
| Lambert Syndrome |
|
Ventricular septal defect, Hypospadias, Wide mouth, Branchial anomaly, Malar flattening |
ORPHA:1296 |
| Premature Ovarian Failure 12 |
|
Microphthalmia, Macular dystrophy |
OMIM:616947 |
| Dengue Fever |
|
Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Thrombocytopenia, Leukopenia, Gingiv... |
ORPHA:99828 |
| Van Der Woude Syndrome 2 |
|
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia |
OMIM:606713 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Communicating hydrocephalus, Occipital encephalocele, Ventriculomegaly, Multicystic kidney dyspla... |
OMIM:615287 |
| Proteus-Like Syndrome |
|
Communicating hydrocephalus, Retinal detachment, Thymus hyperplasia, Venous insufficiency, Open b... |
ORPHA:2969 |
| Martsolf Syndrome 2 |
|
Lateral ventricle dilatation, Hypogonadotropic hypogonadism |
OMIM:619420 |
| Greig Cephalopolysyndactyly Syndrome |
|
Umbilical hernia, Hydrocephalus, Agenesis of corpus callosum |
ORPHA:380 |
| Joubert Syndrome 21 |
|
Encephalocele, Occipital encephalocele, Anophthalmia, Optic atrophy, Megalopapilla, Renal cyst, C... |
OMIM:615636 |
| Tetrasomy 15Q26 |
|
Patent ductus arteriosus, Hydrocephalus, Hypoplastic aortic arch, Syringomyelia, High palate, Atr... |
OMIM:614846 |
| Osteogenesis Imperfecta, Type Xvii |
|
Intraventricular hemorrhage, Syringomyelia, Dentinogenesis imperfecta |
OMIM:616507 |
| Factor Xiii, A Subunit, Deficiency Of |
|
Abnormal bleeding, Epistaxis, Intracranial hemorrhage, Spontaneous hematomas, Abnormal umbilical ... |
OMIM:613225 |
| Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Thin upper lip vermilion, Tented upper lip vermilion, Hyposegmentation of neutrophil nuclei, Thic... |
OMIM:620075 |
| Phace Association |
|
Anomalous branches of internal carotid artery, Ventricular septal defect, Optic nerve hypoplasia,... |
OMIM:606519 |
| Nail-Patella Syndrome |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Spina bifida, Cleft upper lip, Patellar apl... |
OMIM:161200 |
| 8P23.1 Duplication Syndrome |
|
Ventricular septal defect, Thick vermilion border, Pulmonic stenosis, Long philtrum, Tetralogy of... |
ORPHA:251076 |
| Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Pulmonary artery atresia, Ventricular septal defect, Left superior vena cava draining directly to... |
OMIM:613759 |
| Waardenburg Syndrome, Type 1 |
|
Mandibular prognathia, Spina bifida, Myelomeningocele, Orofacial cleft, Aplasia of the vagina, Hy... |
OMIM:193500 |
| Periventricular Heterotopia With Microcephaly, Autosomal Recessive |
|
Periventricular nodular heterotopia, Periventricular heterotopia |
OMIM:608097 |
| Feingold Syndrome Type 2 |
|
Jejunal atresia, Ventricular septal defect |
ORPHA:391646 |
| Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Tachycardia, Hypertensive retinopathy, Cerebral hemorrhage, Congestive heart failure, Episodic hy... |
OMIM:171420 |
| 14Q22Q23 Microdeletion Syndrome |
|
Optic nerve aplasia, Small scrotum, Anophthalmia, Anterior pituitary hypoplasia, Micrognathia, Cr... |
ORPHA:264200 |
| Monosomy 18Q |
|
Bilateral cryptorchidism, Secundum atrial septal defect, Downturned corners of mouth, Choreoathet... |
ORPHA:1600 |
| Familial Afibrinogenemia |
|
Abnormal bleeding, Epistaxis, Gingival bleeding, Cerebral hemorrhage |
ORPHA:98880 |
| Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Accessory oral frenulum, Hamartoma of tongue, Micromelia, Aplastic clavicle, Hydrocephalus, Anenc... |
OMIM:616546 |
| Knobloch Syndrome |
|
Occipital encephalocele, Retinal detachment, Dextrocardia, Pyloric stenosis, Patent ductus arteri... |
ORPHA:1571 |
| Rothmund-Thomson Syndrome Type 1 |
|
Calcinosis, Myelodysplasia, Cryptorchidism, Squamous cell carcinoma, Melanoma, Basal cell carcino... |
ORPHA:221008 |
| Thanatophoric Dysplasia |
|
Frontal bossing, Cloverleaf skull, Abnormality of the kidney, Micromelia, Hydrocephalus, Patent d... |
ORPHA:2655 |
| Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder |
OMIM:619927 |
| Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
|
Dental crowding, Partial agenesis of the corpus callosum, Optic nerve dysplasia, Lateral ventricl... |
OMIM:617296 |
| Hypomandibular Faciocranial Dysostosis |
|
Pursed lips, Micrognathia, Hypoplasia of the maxilla, Patent ductus arteriosus, Optic disc colobo... |
OMIM:241310 |
| Orofaciodigital Syndrome I |
|
Lobulated tongue, High palate, Agenesis of corpus callosum, Hamartoma of tongue, Cleft upper lip,... |
OMIM:311200 |
| Pallister-Hall Syndrome |
|
Thyroid dysgenesis, Decreased response to growth hormone stimulation test, Ectopic kidney, Renal ... |
OMIM:146510 |
| Mycophenolate Mofetil Embryopathy |
|
Ventricular septal defect, Ectopic kidney, Micrognathia, Hydrocephalus, Tracheoesophageal fistula... |
ORPHA:268249 |
| Aase-Smith Syndrome I |
|
Ventricular septal defect, Hydrocephalus, Cleft palate, Open mouth, Dandy-Walker malformation |
OMIM:147800 |
| Fetal Gaucher Disease |
|
Death in infancy, Intracranial hemorrhage, Stillbirth, High palate, Neonatal death |
ORPHA:85212 |
| Yellow Nail Syndrome |
|
Neoplasm of the lung, Renal neoplasm, Neoplasm, Sarcoma |
ORPHA:662 |
| Fanconi Anemia, Complementation Group B |
|
Optic disc hypoplasia, Hypergonadotropic hypogonadism, Ventricular septal defect, Aplastic anemia... |
OMIM:300514 |
| Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Ventricular septal defect, Patent foramen ovale, Partial agenesis of the corpus callosum, Patent ... |
OMIM:620113 |
| Matthew-Wood Syndrome |
|
Anophthalmia, Cryptorchidism, Renal hypoplasia, Aplasia/Hypoplasia of the pancreas, Duodenal sten... |
ORPHA:2470 |
| Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Frontal bossing, Hypospadias, Ventricular septal defect, Micrognathia, Cleft lip, Cryptorchidism,... |
OMIM:616975 |
| Craniosynostosis 6 |
|
Lateral ventricle dilatation, Spina bifida occulta, Agenesis of corpus callosum, Dandy-Walker mal... |
OMIM:616602 |
| Kabuki Syndrome |
|
Hypoplasia of penis, Orofacial cleft, Coloboma, High palate, Widely spaced teeth, Microdontia, Ab... |
ORPHA:2322 |
| Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Cryptorchidism, Simplified gyral pattern, Abnormality of neuronal migration, Gray matter heteroto... |
OMIM:604317 |
| Diamond-Blackfan Anemia 6 |
|
Ventricular hypertrophy, Ventricular septal defect, Cleft upper lip, Micrognathia, Short thumb, P... |
OMIM:612561 |
| Holoprosencephaly 7 |
|
Flat occiput, Alobar holoprosencephaly, Holoprosencephaly, Parietal bossing, Iris coloboma, Media... |
OMIM:610828 |
| Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Hypogonadotropic hypogonadism, Cleft palate, Tooth agenesis, High palate, Microphthalmia, Midface... |
ORPHA:1135 |
| Ventriculomegaly With Cystic Kidney Disease |
|
Ventriculomegaly, Ventricular septal defect, Hydrocephalus, Gray matter heterotopia, Vascular dil... |
OMIM:219730 |
| Familial Adenomatous Polyposis |
|
Pancreatic adenocarcinoma, Brain neoplasm, Astrocytoma, Soft tissue neoplasm, Angiofibromas, Fibr... |
ORPHA:733 |
| Pontocerebellar Hypoplasia, Type 12 |
|
Lateral ventricle dilatation |
OMIM:618266 |
| Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Abnormality of retinal pigmentation, Submucous cleft hard palate, Bifid uvula, Cleft palate |
ORPHA:2521 |
| Lynch Syndrome 5 |
|
Neoplasm of the pancreas, Endometrial carcinoma, Ovarian neoplasm |
OMIM:614350 |
| Noonan Syndrome 12 |
|
Lymphopenia, Ventricular septal defect, Decreased response to growth hormone stimulation test, Th... |
OMIM:618624 |
| Skraban-Deardorff Syndrome |
|
Broad-based gait, Ventricular septal defect, Absent cupid's bow, Cleft palate, Right aortic arch,... |
OMIM:617616 |
| 15Q Overgrowth Syndrome |
|
Mandibular prognathia, Dental crowding, Micrognathia, High, narrow palate, High palate, Agenesis ... |
ORPHA:314585 |
| Cardiac Diverticulum |
|
Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Pulmonary artery hypopl... |
ORPHA:1686 |
| Endocrine-Cerebroosteodysplasia |
|
Small scrotum, Micromelia, Micrognathia, Sex reversal, Holoprosencephaly, Microphallus, Agenesis ... |
OMIM:612651 |
| Acro-Renal-Ocular Syndrome |
|
Renal malrotation, Hypoplasia of the ulna, Short humerus, Aganglionic megacolon, Optic disc hypop... |
ORPHA:959 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Prolonged bleeding time, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, I... |
ORPHA:3226 |
| Epilepsy, Progressive Myoclonic, 9 |
|
Short thumb, Simplified gyral pattern, Microglossia, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:616540 |
| Acromesomelic Dysplasia, Grebe Type |
|
Sarcoma |
ORPHA:2098 |
| Rothmund-Thomson Syndrome Type 2 |
|
Calcinosis, Myelodysplasia, Cryptorchidism, Lymphoma, Squamous cell carcinoma, Melanoma, Basal ce... |
ORPHA:221016 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Aqueductal stenosis, Dextrotransposition of the great arteries, Atrial septal defec... |
OMIM:306955 |
| Intellectual Developmental Disorder, Autosomal Recessive 67 |
|
Coloboma |
OMIM:618295 |
| Osteogenesis Imperfecta |
|
Abnormality of dental color, Loss of ambulation, Ataxia, Abnormal dental enamel morphology, Gait ... |
ORPHA:666 |
| Combined Deficiency Of Factor V And Factor Viii |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... |
ORPHA:35909 |
| Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Ventriculomegaly, Decreased response to growth hormone stimulation test, Deep philtrum, Patent du... |
OMIM:617260 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Tented upper lip vermilion, Exaggerated cupid's bow, Cholelithiasis, Ventricular septal defect, H... |
ORPHA:464738 |
| Cockayne Syndrome Type 3 |
|
Retinal degeneration, Retinal atrophy, Renal hypoplasia, Cardiomyopathy, Urinary retention, Incre... |
ORPHA:90324 |
| Combined Oxidative Phosphorylation Defect Type 39 |
|
Optic disc pallor, Decreased nerve conduction velocity, Cryptorchidism, Increased CSF lactate, La... |
ORPHA:565624 |
| Melanosis, Neurocutaneous |
|
Choroid plexus papilloma, Hydrocephalus, Syringomyelia, Dandy-Walker malformation |
OMIM:249400 |
| Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Mandibular prognathia, Micrognathia, Lens coloboma, Renal hypoplasia, Umbilical hernia, Pulmonic ... |
OMIM:618914 |
| Emanuel Syndrome |
|
Ventriculomegaly, Dental crowding, Intestinal malrotation, Delayed eruption of primary teeth, Tru... |
OMIM:609029 |
| Joubert Syndrome 18 |
|
Occipital encephalocele, Ventricular septal defect, Renal cyst, Cleft palate, Horseshoe kidney, L... |
OMIM:614815 |
| Pettigrew Syndrome |
|
Mandibular prognathia, Ventriculomegaly, Aqueductal stenosis, Calvarial osteosclerosis, Hydroceph... |
OMIM:304340 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Tented upper lip vermilion, Ataxia, Periventricular heterotopia, Hydrocephalus, Optic atrophy, Di... |
OMIM:618476 |
| Stromme Syndrome |
|
Jejunal atresia, Intestinal malrotation, Optic nerve hypoplasia, Micrognathia, Hydrocephalus, Bil... |
OMIM:243605 |
| Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Ventricular hypertrophy, Adrenal hyperplasia, Ventricular septal defect, Epistaxis, Abnormal circ... |
ORPHA:369929 |
| Igg4-Related Ophthalmic Disease |
|
Sinusitis, Abnormal fifth cranial nerve morphology, Abnormality of the kidney, Abnormality of inf... |
ORPHA:449563 |
| Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Thin upper lip vermilion, Bicuspid aortic valve, Ventricular septal defect, Supernumerary nipple,... |
ORPHA:457279 |
| Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Ventricular septal defect, Periventricular heterotopia, Patent ductus arteriosus, Downturned corn... |
OMIM:618974 |
| Lissencephaly Due To Tuba1A Mutation |
|
Dilated fourth ventricle, Microretrognathia, Agyria, Aganglionic megacolon, Optic nerve hypoplasi... |
ORPHA:171680 |
| Vater/Vacterl Association |
|
Occipital encephalocele, Ectopic kidney, Patent urachus, Vesicoureteral reflux, Tethered cord, Hy... |
OMIM:192350 |
| Congenital Disorder Of Glycosylation, Type Iq |
|
Microphthalmia, Coloboma, Optic atrophy, Brachycephaly |
OMIM:612379 |
| Dextrocardia |
|
Abnormal EKG, Intestinal malrotation, Dextrocardia, Situs inversus totalis, Abnormality of the sp... |
ORPHA:1666 |
| Cleft Palate With Or Without Ankyloglossia, X-Linked |
|
Ankyloglossia, Bifid uvula, Cleft palate |
OMIM:303400 |
| Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran... |
OMIM:606217 |
| Srd5A3-Cdg |
|
Optic disc hypoplasia, Decreased response to growth hormone stimulation test, Optic atrophy, Colo... |
ORPHA:324737 |
| Intellectual Developmental Disorder, X-Linked 30 |
|
Thin upper lip vermilion, Hydrocephalus, High palate, Open mouth, Thick upper lip vermilion |
OMIM:300558 |
| Exudative Vitreoretinopathy 2, X-Linked |
|
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Peripheral vitreous ... |
OMIM:305390 |
| Erythrocytosis, Familial, 1 |
|
Cerebral hemorrhage, Myocardial infarction, Splenomegaly, Increased hemoglobin, Increased red blo... |
OMIM:133100 |
| Rothmund-Thomson Syndrome |
|
Calcinosis, Myelodysplasia, Squamous cell carcinoma, Melanoma, Basal cell carcinoma, Neoplasm of ... |
ORPHA:2909 |
| Congenital Fibrinogen Deficiency |
|
Abnormal bleeding, Tachycardia, Hemorrhagic ovarian cyst, Internal hemorrhage, Micropenis, Abnorm... |
ORPHA:335 |
| Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Microretrognathia, Thin upper lip vermilion, Ventricular septal defect, Intestinal malrotation, C... |
ORPHA:457193 |
| Campomelic Dysplasia |
|
Irregular dentition, Micrognathia, Patellar hypoplasia, Sex reversal, Shortening of all phalanges... |
OMIM:114290 |
| Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Hypogonadotropic hypogonadism, Malar prominence, Micrognathia, Motor axonal neuropathy, Microphth... |
ORPHA:48431 |
| Cree Mental Retardation Syndrome |
|
Bifid scrotum, Aplasia/Hypoplasia of the ribs, Hypospadias, Cleft soft palate, Micrognathia, Cryp... |
OMIM:606851 |
| Ritscher-Schinzel Syndrome 3 |
|
Thin upper lip vermilion, Death in infancy, Hypoplasia of the ulna, Micrognathia, Cryptorchidism,... |
OMIM:619135 |
| Peho Syndrome |
|
Ventriculomegaly, Hydrocephalus, Optic atrophy, Gingival overgrowth, Abnormal upper lip morpholog... |
ORPHA:2836 |
| Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Ventricular septal defect, Lateral ventricle dilatation, High palate, Dextrotransposition of the ... |
OMIM:619995 |
| Van Der Woude Syndrome |
|
Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho... |
ORPHA:888 |
| Joubert Syndrome 2 |
|
Encephalocele, Enlarged fossa interpeduncularis, Frontal bossing, Renal insufficiency, Retinal dy... |
OMIM:608091 |
| Thoracoabdominal Syndrome |
|
Hypospadias, Renal agenesis, Cleft upper lip, Patent ductus arteriosus, Hydrocephalus, Anencephal... |
OMIM:313850 |
| Crouzon Syndrome With Acanthosis Nigricans |
|
Hydrocephalus, Brachycephaly, Craniosynostosis, Midface retrusion |
OMIM:612247 |
| Feingold Syndrome 2 |
|
Ventricular septal defect, Intestinal atresia |
OMIM:614326 |
| Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect |
|
Aganglionic megacolon, Ventricular septal defect |
OMIM:235750 |
| Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Delayed eruption of teeth, Frontal bossing, Flat occiput, Facial palsy, Micrognathia, High, narro... |
ORPHA:2780 |
| Prune Belly Syndrome |
|
Multicystic kidney dysplasia, Recurrent urinary tract infections, Ventricular septal defect, Inte... |
ORPHA:2970 |
| Exstrophy-Epispadias Complex |
|
Bifid scrotum, Urinary incontinence, Epispadias, Bladder duplication, Absent penis, Vesicouretera... |
ORPHA:322 |
| Microcephaly 5, Primary, Autosomal Recessive |
|
Flat occiput, Agenesis of corpus callosum, Simplified gyral pattern, Ventriculomegaly |
OMIM:608716 |
| Frontofacionasal Dysplasia |
|
Encephalocele, Non-midline cleft lip, Brachycephaly, Cleft palate, Midface retrusion, Microphthal... |
ORPHA:1791 |
| 1Q21.1 Microdeletion Syndrome |
|
Frontal bossing, Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Hydronephrosis, Short f... |
ORPHA:250989 |
| Severe X-Linked Intellectual Disability, Gustavson Type |
|
Dilated fourth ventricle, Ventricular septal defect, Optic atrophy, Lateral ventricle dilatation,... |
ORPHA:3078 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Tachycardia, Ventricular septal defect, Abnormal pulmona... |
ORPHA:860 |
| Pontocerebellar Hypoplasia, Type 7 |
|
Micrognathia, Cryptorchidism, Hydrocephalus, Deep philtrum, Optic atrophy, High palate, Tongue fa... |
OMIM:614969 |
| Oculocerebrocutaneous Syndrome |
|
Ventriculomegaly, Aplasia/Hypoplasia of the distal phalanges of the toes, Missing ribs, Cryptorch... |
ORPHA:1647 |
| Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Fibroma |
OMIM:619750 |
| Acquired Von Willebrand Syndrome |
|
Aortic regurgitation, Gastrointestinal hemorrhage, Epistaxis, Gastrointestinal angiodysplasia, In... |
ORPHA:99147 |
| Hypomandibular Faciocranial Dysostosis |
|
Death in infancy, Midface retrusion, Atrial septal defect, Aplasia/Hypoplasia of the tongue, Cran... |
ORPHA:1790 |
| Costello Syndrome |
|
Rhabdomyosarcoma, Achilles tendon contracture, Bladder carcinoma, Macroglossia, Vestibular schwan... |
OMIM:218040 |
| Mitochondrial Trifunctional Protein Deficiency 2 |
|
Death in infancy, Tricuspid regurgitation, Recurrent myoglobinuria, Cerebral hemorrhage, Dilated ... |
OMIM:620300 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Cryptorchidism, Squamous cell carcinoma of the skin, Myelodysplasia |
OMIM:620365 |
| Mucopolysaccharidosis, Type Ii |
|
Delayed eruption of teeth, Papilledema, Abnormality of retinal pigmentation, Intestinal pseudo-ob... |
OMIM:309900 |
| Nodular Neuronal Heterotopia |
|
Abnormality of neuronal migration |
ORPHA:2149 |
| Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
|
Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum, Holoprosencephaly |
ORPHA:2182 |
| Oculoauriculovertebral Spectrum With Radial Defects |
|
Aplasia/Hypoplasia of the thumb, Distal urethral duplication, Renal hypoplasia/aplasia, Non-midli... |
ORPHA:2549 |
| Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Dilated fourth ventricle, Thin upper lip vermilion, Ataxia, Thrombocytopenia, Dysmetria, Cardiomy... |
ORPHA:572798 |
| X-Linked Lissencephaly With Abnormal Genitalia |
|
Aganglionic megacolon, Ventricular septal defect, Malabsorption, Cryptorchidism, Patent ductus ar... |
ORPHA:452 |
| Humero-Radial Synostosis |
|
Aplasia/Hypoplasia of the thumb, Meningocele, Chorioretinal coloboma, Aplasia/Hypoplasia affectin... |
ORPHA:3265 |
| Mutyh-Related Attenuated Familial Adenomatous Polyposis |
|
Desmoid tumors, Adenocarcinoma of the colon |
ORPHA:247798 |
| Cleft Lip/Palate |
|
Agenesis of lateral incisor, Bilateral cleft palate, Velopharyngeal insufficiency, Abnormality of... |
ORPHA:199306 |
| Bloom Syndrome |
|
Cryptorchidism, Leukemia, Lymphoma, Squamous cell carcinoma |
OMIM:210900 |
| Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Ventricular septal defect, Renal agenesis, Renal hypoplasia/aplasia, Micrognathia, High, narrow p... |
ORPHA:2516 |
| Ventriculomegaly And Arthrogryposis |
|
Agenesis of corpus callosum, Ventriculomegaly, Micrognathia |
OMIM:619501 |
| Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Polymicrogyria, Agenesis of corpus callosum, Ventriculomegaly |
ORPHA:171703 |
| Cornelia De Lange Syndrome 5 |
|
Micrognathia, Cryptorchidism, Small hand, Brachycephaly, Cleft palate, Downturned corners of mout... |
OMIM:300882 |
| Gorlin Syndrome |
|
Mandibular prognathia, Frontal bossing, Hypogonadotropic hypogonadism, Carious teeth, Cryptorchid... |
ORPHA:377 |
| Microcephaly 17, Primary, Autosomal Recessive |
|
Renal agenesis, Simplified gyral pattern, Microlissencephaly, Thick vermilion border, Agenesis of... |
OMIM:617090 |
| Spondyloenchondrodysplasia |
|
Delayed eruption of teeth, Abnormal lateral ventricle morphology, Pancytopenia, Autoimmune hemoly... |
ORPHA:1855 |
| Heart Defects-Limb Shortening Syndrome |
|
Abnormal mitral valve morphology, Atrial septal defect, Ventricular septal defect, Abnormal tricu... |
ORPHA:1354 |
| Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Subarachnoid hemorrhage, Cephalohematoma, Intracr... |
ORPHA:853 |
| Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Ventricular septal defect, Cryptorchidism, Abnormality of neuronal migration, Hypoplastic left he... |
ORPHA:2772 |
| Oculocutaneous Albinism Type 1B |
|
Melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin |
ORPHA:79434 |
| Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Lateral ventricle dilatation, Lissencephaly, Simplified gyral pattern |
ORPHA:284417 |
| Multiple Mitochondrial Dysfunctions Syndrome 3 |
|
Optic atrophy, Retrognathia, Increased CSF lactate, High palate, Increased CSF glycine concentrat... |
OMIM:615330 |
| Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Atrial septal defect, Small scrotum, Proteinuria, Cryptorchidism, Cleft palate, Hypoplasia of tee... |
ORPHA:2728 |
| Pseudo-Torch Syndrome 3 |
|
Cerebral hemorrhage, Cardiomegaly, Lymphadenitis, Leukocytosis, Hypertension, Congenital thromboc... |
OMIM:618886 |
| Rhombencephalosynapsis |
|
Microretrognathia, Septo-optic dysplasia, Ventriculomegaly, Aganglionic megacolon, Esophageal atr... |
ORPHA:59315 |
| Tatton-Brown-Rahman Syndrome |
|
Everted upper lip vermilion, Tricuspid regurgitation, Exaggerated cupid's bow, Optic nerve hypopl... |
OMIM:615879 |
| Congenital Alpha2-Antiplasmin Deficiency |
|
Abnormal bleeding, Intracranial hemorrhage, Hematuria, Abnormal umbilical stump bleeding, Gingiva... |
ORPHA:79 |
| Phenylketonuria |
|
Maternal hyperphenylalaninemia, Hyperactivity, Aggressive behavior, Hyperphenylalaninemia, Attent... |
OMIM:261600 |
| Tetraamelia Syndrome 2 |
|
Microretrognathia, Absent nipple, Ventricular septal defect, Bilateral cleft lip, Hypoplastic pul... |
OMIM:618021 |
| Developmental And Epileptic Encephalopathy 66 |
|
Thin upper lip vermilion, Broad-based gait, Ventricular septal defect, Dextrocardia, Cryptorchidi... |
OMIM:618067 |
| Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome |
|
Thin upper lip vermilion, Unilateral cryptorchidism, Optic nerve hypoplasia, Abnormal pulmonary v... |
ORPHA:137634 |
| Autosomal Recessive Spastic Paraplegia Type 11 |
|
Orthostatic hypotension, Peripheral axonal neuropathy, Ataxia, Atrophy of the spinal cord, Inabil... |
ORPHA:2822 |
| Lissencephaly, X-Linked, 2 |
|
Thin upper lip vermilion, Micrognathia, Micropenis, High palate, Lissencephaly, Long philtrum, Am... |
OMIM:300215 |
| Lateral Meningocele Syndrome |
|
Craniofacial hyperostosis, Dental crowding, Ventricular septal defect, Micrognathia, High, narrow... |
ORPHA:2789 |
| X-Linked Parkinsonism-Spasticity Syndrome |
|
Lateral ventricle dilatation, Dilated third ventricle, Scissor gait |
ORPHA:363654 |
| Isolated Right Ventricular Hypoplasia |
|
Tricuspid regurgitation, Abnormal atrioventricular conduction, Cardiomegaly, Right ventricular fa... |
ORPHA:439 |
| Marden-Walker Syndrome |
|
Hypospadias, Dextrocardia, Micrognathia, High, narrow palate, Pyloric stenosis, Cryptorchidism, R... |
OMIM:248700 |
| Abeta Amyloidosis, Dutch Type |
|
Stroke, Cerebral hemorrhage, Cerebral amyloid angiopathy |
ORPHA:100006 |
| Developmental And Epileptic Encephalopathy 31B |
|
Protruding tongue, Optic atrophy, Gingival overgrowth, Colpocephaly, Agenesis of corpus callosum,... |
OMIM:620352 |
| Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy |
|
Atrial septal defect, Ventricular septal defect |
OMIM:614249 |
| Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Optic disc pallor, Hydrocephalus, Small pituitary gland, Nasofrontal encephalocele, Ventriculomegaly |
OMIM:614195 |
| Smith-Magenis Syndrome |
|
Mandibular prognathia, Retinal detachment, Everted upper lip vermilion, Abnormality of the dentit... |
OMIM:182290 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Mandibular prognathia, Thin upper lip vermilion, Tented upper lip vermilion, Aganglionic megacolo... |
OMIM:239300 |
| Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Ventricular septal defect, High, narrow palate, Hydrocephalus, Hematochezia, Lateral ventricle di... |
OMIM:619575 |
| Myopathy, Centronuclear, X-Linked |
|
Facial palsy, Pyloric stenosis, Hydrocephalus, Cryptorchidism, Dental malocclusion, High palate, ... |
OMIM:310400 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Retinal dystrophy, Cardiac arrest, Ventricular septal defect, Paroxysmal atrial tachycardia, Cong... |
ORPHA:49827 |
| Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Anophthalmia, Hypospadias, Rhizomelia, Precocious puberty, Coloboma, Long philtrum, Microphthalmia |
OMIM:615877 |
| Adams-Oliver Syndrome |
|
Gastrointestinal hemorrhage, Encephalocele, Abnormal pulmonary valve morphology, Portal hypertens... |
ORPHA:974 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Abnormal auditory evoked potentials, Hypoplasia of the maxilla, Hydrocephalus, Brachycephaly, Mal... |
OMIM:109120 |
| Joubert Syndrome With Hepatic Defect |
|
Occipital encephalocele, Ataxia, Portal hypertension, Splenomegaly, Hydrocephalus, Optic disc col... |
ORPHA:1454 |
| Bannayan-Riley-Ruvalcaba Syndrome |
|
Intestinal polyposis, Frontal bossing, Angina pectoris, Abnormal large intestine morphology, Doli... |
ORPHA:109 |
| B4Galt1-Cdg |
|
Abnormal bleeding, Thin upper lip vermilion, Splenomegaly, Hydrocephalus, Long philtrum, Hypothyr... |
ORPHA:79332 |
| Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
|
Tethered cord, Cranial hyperostosis, Renal hypoplasia, Spinal dysraphism, Nephroblastoma, Venous ... |
OMIM:612918 |
| Chromosome 18Q Deletion Syndrome |
|
Mandibular prognathia, Decreased response to growth hormone stimulation test, Downturned corners ... |
OMIM:601808 |
| Developmental And Epileptic Encephalopathy 49 |
|
Ventriculomegaly, Tented upper lip vermilion, Dysplastic corpus callosum, Hydrocephalus, Optic at... |
OMIM:617281 |
| Mulibrey Nanism |
|
Frontal bossing, Dental crowding, Nephroblastoma, Absent frontal sinuses, Hypoplastic frontal sin... |
OMIM:253250 |
| Meckel Syndrome 14 |
|
Microretrognathia, Occipital encephalocele, Tricuspid regurgitation, Micrognathia, Mitral regurgi... |
OMIM:619879 |
| Cohen Syndrome |
|
Abnormality of retinal pigmentation, Chorioretinal dystrophy, Macrodontia, Aplasia/Hypoplasia of ... |
ORPHA:193 |
| Hadziselimovic Syndrome |
|
Ventricular hypertrophy, Atrial septal defect, Ventricular septal defect, Thick lower lip vermili... |
OMIM:612946 |
| Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Hypospadias, Bicuspid aortic valve, Ventricular septal defect, Cryptorchidism, Patent ductus arte... |
ORPHA:500159 |
| Micro Syndrome |
|
Abnormality of retinal pigmentation, Hypoplasia of penis, Micrognathia, Cryptorchidism, Hypoplast... |
ORPHA:2510 |
| Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Microphthalmia, Cystoid macular degeneration, Macular atrophy, Retinal degeneration |
OMIM:267760 |
| Lowry-Maclean Syndrome |
|
Hypospadias, Delayed eruption of primary teeth, Craniosynostosis, Bilateral cryptorchidism, High,... |
ORPHA:2409 |
| Donnai-Barrow Syndrome |
|
Retinal detachment, Retinal dystrophy, Intestinal malrotation, Ventricular septal defect, Protein... |
ORPHA:2143 |
| Symmetrical Thalamic Calcifications |
|
Arrhythmia, Ataxia, Abnormality of neuronal migration |
ORPHA:1314 |
| Vascular Hyalinosis |
|
Subarachnoid hemorrhage, Malabsorption, Hematochezia, Protein-losing enteropathy, Chorioretinal s... |
OMIM:277175 |
| Nephrotic Syndrome, Type 11 |
|
Diffuse mesangial sclerosis, Ventricular septal defect, Proteinuria, Minimal change glomeruloneph... |
OMIM:616730 |
| Bardet-Biedl Syndrome 17 |
|
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Short fourth metatarsal, Macula... |
OMIM:615994 |
| Khan-Khan-Katsanis Syndrome |
|
Tented upper lip vermilion, Tethered cord, Tricuspid regurgitation, Patent ductus arteriosus afte... |
OMIM:618460 |
| Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
External genital hypoplasia, Cryptorchidism, Hypogonadism, Retinal coloboma, Microphthalmia, Rod-... |
ORPHA:363741 |
| Ring Chromosome 10 Syndrome |
|
Frontal bossing, Aganglionic megacolon, Renal hypoplasia/aplasia, Micrognathia, Thin vermilion bo... |
ORPHA:1438 |
| Microphthalmia, Syndromic 6 |
|
Small scrotum, Female hypogonadism, Retinal dystrophy, Anophthalmia, Micrognathia, Cryptorchidism... |
OMIM:607932 |
| Raine Syndrome |
|
Mandibular prognathia, Micromelia, Micrognathia, Brachycephaly, High palate, Neonatal death, Micr... |
OMIM:259775 |
| Inverted Duplicated Chromosome 15 Syndrome |
|
Frontal bossing, Ventricular septal defect, Unilateral renal agenesis, Precocious puberty, Crypto... |
ORPHA:3306 |
| Frontorhiny |
|
Encephalocele, Hypoplasia of the maxilla, Hypoplastic frontal sinuses, Cleft palate, Basal enceph... |
ORPHA:391474 |
| Li-Campeau Syndrome |
|
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Patellar hypoplasia, Long ph... |
OMIM:619189 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Occipital encephalocele, Ventriculomegaly, Retinal dystrophy, Supernumerary nipple, Meningocele, ... |
ORPHA:397715 |
| Encephalocraniocutaneous Lipomatosis |
|
Ventricular septal defect, Cryptorchidism, Hydrocephalus, Hypoplasia of the iris, Subvalvular aor... |
OMIM:613001 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Bicuspid aortic valve, Parachute mitral valve, Micrognathia, Brachycephaly, Neonatal death, Atria... |
OMIM:265380 |
| Foveal Hypoplasia 2 |
|
Hypoplasia of the fovea, Microphthalmia, Foveal hyperpigmentation, Optic nerve misrouting |
OMIM:609218 |
| Congenital Muscular Dystrophy With Intellectual Disability |
|
Facial palsy, Abnormality of the tongue muscle, Cryptorchidism, Pigmentary retinopathy, Micropeni... |
ORPHA:370968 |
| Distal Deletion 10Q |
|
Thin upper lip vermilion, Ataxia, Patent ductus arteriosus, Unsteady gait, Cleft palate, Facial d... |
ORPHA:96148 |
| Atrial Septal Defect 1 |
|
Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec... |
OMIM:108800 |
| 6Q25 Microdeletion Syndrome |
|
External genital hypoplasia, Micrognathia, Cleft palate, Plagiocephaly, High palate, Long philtru... |
ORPHA:251056 |
| Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Increased urine alpha-ketoglutarate concentration, Thin upper lip vermilion, Ventricular septal d... |
OMIM:220500 |
| Filippi Syndrome |
|
Ambiguous genitalia, Ventricular septal defect, Cryptorchidism, Optic atrophy, Thin vermilion bor... |
OMIM:272440 |
| Sturge-Weber Syndrome |
|
Conjunctival telangiectasia, Retinal detachment, Abnormal cerebral vascular morphology, Pulmonary... |
ORPHA:3205 |
| Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Hydrocephalus |
OMIM:618302 |
| Hemangioblastoma |
|
Retinal capillary hemangioma, Hydrocephalus, Spinal hemangioblastoma |
ORPHA:252054 |
| Right Atrial Isomerism |
|
Atrial septal defect, Right atrial isomerism, Ventricular septal defect, Aortopulmonary collatera... |
OMIM:208530 |
| Papillorenal Syndrome |
|
Renal cyst, Macular degeneration, Vesicoureteral reflux, Multicystic kidney dysplasia, Optic disc... |
OMIM:120330 |
| Neonatal Lupus Erythematosus |
|
Abnormal bleeding, Prolonged QT interval, Hemolytic anemia, Pancytopenia, Aplastic anemia, Heart ... |
ORPHA:398124 |
| Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Ventricular sep... |
ORPHA:137675 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Ectopic kidney, Rectal prolapse, Conical incisor, Oligodontia, Protein-losing enteropathy, Short ... |
OMIM:235510 |
| Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Wide mouth, Hydrocephalus |
OMIM:616521 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... |
ORPHA:216694 |
| Orofaciodigital Syndrome V |
|
Thin upper lip vermilion, Frontal bossing, Median cleft lip, Aganglionic megacolon, Unilateral cr... |
OMIM:174300 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Cardiomegaly, Heart block, High, narrow palate, Hydrocephalus, Abnormality of neuronal migration,... |
ORPHA:228308 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Delayed eruption of teeth, Mandibular prognathia, Short metacarpal, Unilateral renal agenesis, Hy... |
OMIM:101800 |
| Congenital Disorder Of Deglycosylation 2 |
|
Hamartoma of tongue, Partial agenesis of the corpus callosum, Macroglossia, Gray matter heterotop... |
OMIM:619775 |
| Indomethacin Embryofetopathy |
|
Atrial septal defect, Cardiomyopathy, Ventricular septal defect |
ORPHA:1909 |
| Heterotaxy, Visceral, 4, Autosomal |
|
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... |
OMIM:613751 |
| Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Septo-optic dysplasia, Ectopic posterior pituitary, Ectopic anterior pituitary gland, Optic nerve... |
ORPHA:95494 |
| Orofaciodigital Syndrome Xiv |
|
Occipital encephalocele, Micrognathia, Epispadias, Aplasia of the epiglottis, Anteriorly placed a... |
OMIM:615948 |
| Bosma Arhinia Microphthalmia Syndrome |
|
Paranasal sinus hypoplasia, Hypogonadotropic hypogonadism, Hypospadias, Cleft lip, Cryptorchidism... |
OMIM:603457 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Microphthalmia, Coloboma, Hypoplasia of the maxilla, Dolichocephaly |
OMIM:167730 |
| Sandestig-Stefanova Syndrome |
|
Muscular ventricular septal defect, Orofacial cleft, Perimembranous ventricular septal defect, Hi... |
OMIM:618804 |
| Congenital Rubella Syndrome |
|
Abnormality of retinal pigmentation, Ventricular septal defect, Patent ductus arteriosus, Aplasia... |
ORPHA:290 |
| 17Q24.2 Microdeletion Syndrome |
|
Prolonged QT interval, Thin upper lip vermilion, Decreased response to growth hormone stimulation... |
ORPHA:529962 |
| Scimitar Syndrome |
|
Heart block, Pulmonary artery hypoplasia, Atrial septal defect, Single ventricle, Patent ductus a... |
ORPHA:185 |
| Alagille Syndrome |
|
Frontal bossing, Hypoplasia of the ulna, Telangiectasia of the skin, Ventricular septal defect, R... |
ORPHA:52 |
| Ventricular Septal Defect 3 |
|
Atrial septal defect, Ventricular septal defect |
OMIM:614432 |
| Hemophilia B |
|
Prolonged bleeding time, Spontaneous, recurrent epistaxis, Prolonged bleeding after surgery, Join... |
ORPHA:98879 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Micrognathia, Brachycephaly, Neonatal death, Short tibia, Micropenis, Absent gallbladder, Hamarto... |
OMIM:617925 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Ventricular septal defect, Splenomegaly, Cleft palate, Coarctation of aorta, Leukopenia, Lymphope... |
OMIM:620210 |
| Hec Syndrome |
|
Communicating hydrocephalus, Abnormal retinal vascular morphology, Vaginal hydrocele, Cardiomyopa... |
ORPHA:2119 |
| Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Ventricular septal defect, Cleft palate, Cleft upper lip |
OMIM:214300 |
| D-2-Hydroxyglutaric Aciduria 1 |
|
Aortic regurgitation, Cardiomyopathy, Lateral ventricle dilatation, Subependymal cysts |
OMIM:600721 |
| Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Ataxia, Atrophy of the spinal cord, Hydrocephalus, Optic atrophy, Stroke, Gait disturbance, Ventr... |
ORPHA:395 |
| Muenke Syndrome |
|
High, narrow palate, Hydrocephalus, Brachycephaly, Plagiocephaly, Short foot, Short palm, Malar f... |
ORPHA:53271 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Skeletal muscle atrophy, Flexion contracture, Squamous cell carcinoma |
ORPHA:89842 |
| Fetal Alcohol Syndrome |
|
Thin upper lip vermilion, Atrial septal defect, Micrognathia, Non-midline cleft lip, Cleft palate... |
ORPHA:1915 |
| Branchio-Oculo-Facial Syndrome |
|
Multicystic kidney dysplasia, Renal agenesis, Deep philtrum, Non-midline cleft lip, Orofacial cle... |
ORPHA:1297 |
| L1 Syndrome |
|
Aqueductal stenosis, Hydrocephalus, Aganglionic megacolon, Gait disturbance |
ORPHA:275543 |
| Alg2-Cdg |
|
Lateral ventricle dilatation |
ORPHA:79326 |
| Intellectual Developmental Disorder, Autosomal Dominant 65 |
|
Thick upper lip vermilion, Tented upper lip vermilion, Ataxia, Noncommunicating hydrocephalus, Do... |
OMIM:619320 |
| Distal Triplication 15Q |
|
Abnormal external genitalia, Abnormality of the kidney, Craniosynostosis, Micrognathia, Hydroceph... |
ORPHA:314588 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Atrial septal defect, Tented upper lip vermilion, Hypospadias, Ventricular septal defect, Cleft p... |
OMIM:616449 |
| Sebocystomatosis |
|
Steatocystoma multiplex, Adenoma sebaceum |
ORPHA:841 |
| Leukoencephalopathy With Vanishing White Matter 4 |
|
Optic atrophy, Ventriculomegaly |
OMIM:620314 |
| Glutamine Deficiency, Congenital |
|
Subependymal cysts, Lateral ventricle dilatation, Thin vermilion border, Bradycardia, Decreased C... |
OMIM:610015 |
| Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Abnormality of the philtrum, Ventricular septal defect, Renal hypoplasia/aplasia, Non-midline cle... |
ORPHA:1770 |
| Craniofacial Microsomia 1 |
|
Occipital encephalocele, Anophthalmia, Ectopic kidney, Hypoplasia of the maxilla, Micrognathia, V... |
OMIM:164210 |
| Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Thin upper lip vermilion, Intestinal malrotation, Micromelia, Micrognathia, Missing ribs, Hydroce... |
OMIM:617866 |
| Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Absent gallbladder, Aplasia/Hypoplasia of the thumb, Median cleft lip, Overriding aorta, Hypoplas... |
ORPHA:3186 |
| Hb Bart'S Hydrops Fetalis |
|
Pericarditis, Abnormal hemoglobin, Splenomegaly, Congestive heart failure, Hydrocephalus, Anemia |
ORPHA:163596 |
| Xeroderma Pigmentosum, Complementation Group B |
|
Basal cell carcinoma, Neoplasm, Squamous cell carcinoma of the skin, Cutaneous melanoma |
OMIM:610651 |
| Maternal Hyperthermia-Induced Birth Defects |
|
Abnormality of neuronal migration, Cleft palate |
ORPHA:2216 |
| Hydrocephalus, Congenital, X-Linked |
|
Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum |
OMIM:307000 |
| Glutaric Acidemia I |
|
Symmetrical progressive peripheral demyelination, Hydrocephalus, Choreoathetosis, Lateral ventric... |
OMIM:231670 |
| Chromosome 9P Deletion Syndrome |
|
Thin upper lip vermilion, Atrial septal defect, Hypospadias, Ventricular septal defect, Micrognat... |
OMIM:158170 |
| Congenital Factor X Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery... |
ORPHA:328 |
| Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Atrial septal defect, Thoracic aortic aneurysm, Intestinal malrotation, Ventricular septal defect... |
OMIM:619657 |
| Aortic Valve Disease 1 |
|
Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou... |
OMIM:109730 |
| Grange Syndrome |
|
Aortic regurgitation, Hypertension, Ventricular septal defect |
ORPHA:79094 |
| Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Abnormal dental enamel morphology, Supernumerary nipple, Hypothyroidism, Hydrocephalus, Cryptorch... |
ORPHA:1812 |
| Genitopalatocardiac Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Micrognathia, Cryptorchidism, Hydrocephalus, Non-midli... |
ORPHA:2075 |
| Roberts-Sc Phocomelia Syndrome |
|
Micrognathia, Brachycephaly, Tetraphocomelia, Coloboma, High palate, Atrial septal defect, Phocom... |
OMIM:268300 |
| Marden-Walker Syndrome |
|
Micrognathia, Epispadias, Bifid uvula, Abnormal penis morphology, Multicystic kidney dysplasia, H... |
ORPHA:2461 |
| Autoinflammatory Disease, Systemic, X-Linked |
|
Cerebral hemorrhage, Conical tooth, Hepatosplenomegaly, Chorioretinitis, Optic neuritis, B lympho... |
OMIM:301081 |
| Microphthalmia-Brain Atrophy Syndrome |
|
Lateral ventricle dilatation |
ORPHA:77299 |
| Alkuraya-Kucinskas Syndrome |
|
Ventriculomegaly, Small scrotum, Micrognathia, Hydrocephalus, Plagiocephaly, Gray matter heteroto... |
OMIM:617822 |
| Proximal 16P11.2 Microdeletion Syndrome |
|
Atrial septal defect, Multicystic kidney dysplasia, Dextrocardia, Craniosynostosis, Micrognathia,... |
ORPHA:261197 |
| Adams-Oliver Syndrome 1 |
|
Encephalocele, Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Supernumer... |
OMIM:100300 |
| Beta-Thalassemia |
|
Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Anemia, Abnormality of iron homeostasis, Th... |
ORPHA:848 |
| Microcephaly-Micromelia Syndrome |
|
Craniosynostosis, Micromelia, Aqueductal stenosis, Micrognathia, Short tibia, Absent thumb, Absen... |
OMIM:251230 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Everted upper lip vermilion, Dilation of Virchow-Robin spaces, Supernumerary nipple, Secundum atr... |
OMIM:619951 |
| Thanatophoric Dysplasia, Type I |
|
Frontal bossing, Cloverleaf skull, Small abnormally formed scapulae, Hydrocephalus, Gray matter h... |
OMIM:187600 |
| Cartilage-Hair Hypoplasia |
|
Abnormality of retinal pigmentation, Aganglionic megacolon, Rhizomelia, Micromelia, Malabsorption... |
ORPHA:175 |
| Warburg Micro Syndrome 3 |
|
Small scrotum, Micrognathia, Hypoplastic labia minora, Optic atrophy, Brachycephaly, Narrow palat... |
OMIM:614222 |
| Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations |
|
Periventricular heterotopia, Inability to walk, Unsteady gait, Simplified gyral pattern, Truncal ... |
OMIM:618273 |
| Heterotaxy, Visceral, 7, Autosomal |
|
Atrial septal defect, Intestinal malrotation, Dextrocardia, Mitral atresia, Situs inversus totali... |
OMIM:616749 |
| Rothmund-Thomson Syndrome, Type 2 |
|
Cryptorchidism, Squamous cell carcinoma, Basal cell carcinoma, Annular pancreas, Osteosarcoma |
OMIM:268400 |
| Cowden Syndrome |
|
Endometrial carcinoma, Macroglossia, Follicular thyroid carcinoma, Enlarged polycystic ovaries, C... |
ORPHA:201 |
| Functioning Gonadotropic Adenoma |
|
Macroorchidism, postpubertal, Decreased response to growth hormone stimulation test, Isosexual pr... |
ORPHA:91348 |
| Beaulieu-Boycott-Innes Syndrome |
|
Recurrent urinary tract infections, Ventricular septal defect, Endometriosis, Unilateral renal ag... |
OMIM:613680 |
| Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Exaggerated cupid's bow, Ventricular septal defect, Wide mouth, Delayed eruption of permanent tee... |
OMIM:618506 |
| Factor X Deficiency |
|
Epistaxis, Prolonged bleeding after surgery, Intracranial hemorrhage, Prolonged prothrombin time,... |
OMIM:227600 |
| Factor Vii Deficiency |
|
Abnormal bleeding, Epistaxis, Joint hemorrhage, Intracranial hemorrhage, Menorrhagia, Bruising su... |
OMIM:227500 |
| Suleiman-El-Hattab Syndrome |
|
Microretrognathia, Thin upper lip vermilion, Optic disc pallor, Ventricular septal defect, Crypto... |
OMIM:618950 |
| Microphthalmia, Isolated, With Coloboma 3 |
|
Microphthalmia, Iris coloboma |
OMIM:610092 |
| Isotretinoin Embryopathy-Like Syndrome |
|
Hydrocephalus, Conotruncal defect, Cleft palate |
OMIM:243440 |
| Yunis-Varon Syndrome |
|
Aplasia of the distal phalanges of the hand, Aplasia/Hypoplasia of the scapulae, Abnormal occipit... |
ORPHA:3472 |
| Holoprosencephaly 11 |
|
Cleft lip, Cleft palate, Holoprosencephaly, Polysplenia, Agenesis of corpus callosum |
OMIM:614226 |
| 3Q29 Microduplication Syndrome |
|
Ventricular septal defect, Craniosynostosis, Abnormality of the dentition, Deep philtrum, Cleft p... |
ORPHA:251038 |
| Bohring-Opitz Syndrome |
|
Retinal atrophy, Nephroblastoma, Cardiomegaly, Micrognathia, Cleft lip, Optic atrophy, Cleft pala... |
ORPHA:97297 |
| Houge-Janssens Syndrome 1 |
|
Pyloric stenosis, Hydrocephalus, Gait ataxia, Open mouth, Ventriculomegaly |
OMIM:616355 |
| Coffin-Lowry Syndrome |
|
Delayed eruption of teeth, Abnormality of retinal pigmentation, Abnormal dental morphology, Abnor... |
ORPHA:192 |
| Craniopharyngioma |
|
Papilledema, Enlarged pituitary gland, Hypogonadotropic hypogonadism, Myocardial infarction, Neop... |
ORPHA:54595 |
| Isotretinoin-Like Syndrome |
|
Bicuspid aortic valve, Hydrocephalus, Patent ductus arteriosus, Abnormal cardiac ventricle morpho... |
ORPHA:2306 |
| 16P13.11 Microduplication Syndrome |
|
Ventricular septal defect, Craniosynostosis, Coarctation of aorta, Transposition of the great art... |
ORPHA:261243 |
| Acitretin/Etretinate Embryopathy |
|
Aplasia/hypoplasia involving bones of the lower limbs, Aplasia/Hypoplasia of the maxilla, Abnorma... |
ORPHA:40366 |
| Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri... |
OMIM:619827 |
| Mehmo Syndrome |
|
Decreased response to growth hormone stimulation test, Cleft lip, Cleft palate, Micropenis, Widel... |
OMIM:300148 |
| Kid Syndrome |
|
Knee flexion contracture, Squamous cell carcinoma, Trichilemmoma, Neoplasm of the skin, Neoplasm ... |
ORPHA:477 |
| Immunodeficiency 11A |
|
Agammaglobulinemia, Reduced antigen-specific T cell proliferation, Decreased circulating antibody... |
OMIM:615206 |
| Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v... |
OMIM:187300 |
| Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Cutaneous anergy |
OMIM:183350 |
| Lhermitte-Duclos Disease |
|
Fibroadenoma of the breast, Ovarian neoplasm, Macroglossia, Trichilemmoma, Neoplasm of the thyroi... |
ORPHA:65285 |
| Menkes Disease |
|
Gastrointestinal hemorrhage, Malabsorption, Venous insufficiency, Vascular dilatation, Micrognath... |
ORPHA:565 |
| Congenital Heart Defects, Multiple Types, 6 |
|
Ventricular septal defect, Secundum atrial septal defect, Complete atrioventricular canal defect,... |
OMIM:613854 |
| 47,Xyy Syndrome |
|
Macroorchidism, Hypospadias, Cryptorchidism, Hydrocephalus, Increased circulating gonadotropin le... |
ORPHA:8 |
| Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Gastroin... |
OMIM:600376 |
| Joubert Syndrome 9 |
|
Encephalocele, Retinal dystrophy, Stage 5 chronic kidney disease, Ventriculomegaly |
OMIM:612285 |
| Moebius Syndrome |
|
Decreased testicular size, Hypogonadotropic hypogonadism, Abnormality of the dentition, Micrognat... |
OMIM:157900 |
| Meckel Syndrome, Type 3 |
|
Occipital encephalocele, Hydrocephalus, Cleft palate, Bile duct proliferation, Dandy-Walker malfo... |
OMIM:607361 |
| Multiple Sulfatase Deficiency |
|
Ventriculomegaly, Ataxia, Splenomegaly, Hydrocephalus, Increased CSF protein concentration, Perip... |
OMIM:272200 |
| Donnai-Barrow Syndrome |
|
Retinal detachment, Retinal dystrophy, Intestinal malrotation, Ventricular septal defect, Protein... |
OMIM:222448 |
| Intrahepatic Cholestasis Of Pregnancy |
|
Abnormal pineal melatonin secretion, Hypothyroidism |
ORPHA:69665 |
| Loeys-Dietz Syndrome 3 |
|
Tortuous cerebral arteries, Bicuspid aortic valve, High palate, Atrial septal defect, Abdominal a... |
OMIM:613795 |
| Pheochromocytoma |
|
Tachycardia, Hypertensive retinopathy, Cerebral hemorrhage, Congestive heart failure, Episodic hy... |
OMIM:171300 |
| Otopalatodigital Syndrome, Type Ii |
|
Micrognathia, Short metatarsal, Atrial septal defect, Short metacarpal, Hypospadias, Spina bifida... |
OMIM:304120 |
| Burn-Mckeown Syndrome |
|
Mandibular prognathia, Ventricular septal defect, Unilateral renal agenesis, Cleft upper lip, Mic... |
OMIM:608572 |
| Branchiooculofacial Syndrome |
|
Anophthalmia, Micrognathia, Renal cyst, Iris coloboma, Hypospadias, Facial palsy, Cleft upper lip... |
OMIM:113620 |
| Warburg Micro Syndrome 4 |
|
Decreased motor nerve conduction velocity, Small scrotum, Narrow mouth, Cryptorchidism, Optic atr... |
OMIM:615663 |
| Slc35A2-Cdg |
|
Precocious puberty, Inability to walk, Elevated circulating thyroid-stimulating hormone concentra... |
ORPHA:356961 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Encephalocele, Type II lissencephaly, Cleft upper lip, Hydrocephalus, Cleft palate, Macroglossia,... |
OMIM:613150 |
| Short Stature And Facioauriculothoracic Malformations |
|
High palate, Ventricular septal defect, Cleft palate, Cleft upper lip |
OMIM:609654 |
| Gabriele-De Vries Syndrome |
|
Waddling gait, Aortopulmonary collateral arteries, Abnormality of the dentition, Cryptorchidism, ... |
OMIM:617557 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Frontal bossing, Facial palsy, Craniosynostosis, Carious teeth, Hydrocephalus, Optic atrophy, Fac... |
OMIM:259700 |
| Dyskeratosis Congenita, X-Linked |
|
Acute myeloid leukemia, Oropharyngeal squamous cell carcinoma, Myelodysplasia, Cryptorchidism, Ho... |
OMIM:305000 |
| Robinow Syndrome |
|
Small scrotum, Dental crowding, External genital hypoplasia, Micrognathia, Pulmonary valve atresi... |
ORPHA:97360 |
| Nasu-Hakola Disease |
|
Hydrocephalus, Ventriculomegaly, Acute leukemia |
ORPHA:2770 |
| Microphthalmia, Lenz Type |
|
Delayed eruption of teeth, Hydroureter, Abnormal dental morphology, Hypospadias, Abnormality of t... |
ORPHA:568 |
| Classic Homocystinuria |
|
Gastrointestinal hemorrhage, Retinal detachment, Abnormality of retinal pigmentation, Dental crow... |
ORPHA:394 |
| Cutis Laxa, Autosomal Recessive, Type Iib |
|
Prominent superficial veins, Hydrocephalus, High palate, Long philtrum, Bruising susceptibility, ... |
OMIM:612940 |
| Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Retinal detachment, Abnormality of retinal pigmentation, Anophthalmia, Retinal dystrophy, Chorior... |
ORPHA:2526 |
| Noonan Syndrome 14 |
|
Aortic regurgitation, Lymphopenia, High, narrow palate, Cryptorchidism, Mitral valve prolapse, Wi... |
OMIM:619745 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Thin upper lip vermilion, Midface retrusion, Flat occiput, Ventricular septal defect, Abnormally ... |
ORPHA:1655 |
| Griscelli Syndrome |
|
Encephalocele, Ataxia, Abnormality of neutrophils, Pyloric stenosis, Hydrocephalus, Splenomegaly,... |
ORPHA:381 |
| Otopalatodigital Syndrome Type 2 |
|
Encephalocele, Short palm, Hypospadias, Short hallux, Micrognathia, Short thumb, Myelomeningocele... |
ORPHA:90652 |
| Menkes Disease |
|
Intracranial hemorrhage, Brachycephaly, Death in childhood |
OMIM:309400 |
| Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Natal tooth, Death in infancy, Ventricular septal defect, Proteinuria, Sagittal craniosynostosis,... |
OMIM:616901 |
| Cardiac-Urogenital Syndrome |
|
Bifid scrotum, Patent urachus, Atrial septal defect, Scimitar anomaly, Micropenis, Mesocardia, Pe... |
OMIM:618280 |
| Axenfeld-Rieger Syndrome, Type 2 |
|
Mandibular prognathia, Anal stenosis, Hypospadias, Hypoplasia of the maxilla, Cryptorchidism, Hyd... |
OMIM:601499 |
| X-Linked Intellectual Disability, Wilson Type |
|
Wide mouth, Lateral ventricle dilatation, Thick vermilion border, Hydrocele testis |
ORPHA:85290 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Retinal detachment, Frontal bossing, Isosexual precocious puberty, Abnormal vitreous humor morpho... |
ORPHA:2788 |
| Braddock-Carey Syndrome 2 |
|
Pierre-Robin sequence, Cleft palate, Wide mouth, Microphthalmia, Retrognathia |
OMIM:619981 |
| Coenzyme Q10 Deficiency, Primary, 7 |
|
Ventricular septal defect, Hypertrophic cardiomyopathy, Hypoplastic left heart, Bradycardia |
OMIM:616276 |
| Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Thin upper lip vermilion, Death in infancy, Flat occiput, Ventricular septal defect, Thyroid lymp... |
OMIM:235255 |
| Macdermot-Winter Syndrome |
|
Death in infancy, Hydronephrosis, Ventriculomegaly, Hypoplastic male external genitalia |
OMIM:247990 |
| Vacterl Association With Hydrocephalus |
|
Absent thumb, Aqueductal stenosis, Hydrocephalus, Renal hypoplasia, Stillbirth, Anal atresia |
OMIM:276950 |
| Metatropic Dysplasia |
|
Hydrocephalus, Cleft palate |
ORPHA:2635 |
| 7Q11.23 Microduplication Syndrome |
|
Short lingual frenulum, Micrognathia, Simplified gyral pattern, Brachycephaly, Abnormal optic dis... |
ORPHA:96121 |
| Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Papilledema, Hydrocephalus |
OMIM:260500 |
| Mosaic Trisomy 1 |
|
Ventricular septal defect, Thick lower lip vermilion, Cleft palate, Orofacial cleft, Short upper ... |
ORPHA:1692 |
| Meckel Syndrome, Type 1 |
|
Occipital encephalocele, External genital hypoplasia, Micrognathia, Ambiguous genitalia, female, ... |
OMIM:249000 |
| Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 |
|
Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Prolonged prothrombin time, Ecchymosis, Bruisi... |
OMIM:277450 |
| Rabin-Pappas Syndrome |
|
Mandibular prognathia, Retinal detachment, Optic nerve hypoplasia, Retinal telangiectasia, Microg... |
OMIM:620155 |
| Holoprosencephaly 2 |
|
Cyclopia, Remnants of the hyaloid vascular system, Proboscis, Alobar holoprosencephaly, Aplasia o... |
OMIM:157170 |
| Cole-Carpenter Syndrome 2 |
|
Microretrognathia, Frontal bossing, Turricephaly, Hydrocephalus, High palate, Lambdoidal craniosy... |
OMIM:616294 |
| Acys Amyloidosis |
|
Stroke, Cerebral hemorrhage, Cerebral amyloid angiopathy |
ORPHA:100008 |
| Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Bicuspid aortic valve, Dextrocardia, Cerebral hemorrhage, Subdural hemorrhage, Arterial rupture, ... |
ORPHA:536545 |
| Thauvin-Robinet-Faivre Syndrome |
|
Renal dysplasia, Renal malrotation, Ventricular septal defect, Renal cyst, Mitral valve prolapse,... |
OMIM:617107 |
| Neurotrophic Keratopathy |
|
Abnormal fifth cranial nerve morphology |
ORPHA:137596 |
| Meckel Syndrome, Type 10 |
|
Dilated fourth ventricle, Occipital encephalocele, Frontal bossing, Hypospadias, Anencephaly, Cle... |
OMIM:614175 |
| Hand-Foot-Genital Syndrome |
|
Shortening of all middle phalanges of the fingers, Recurrent urinary tract infections, Ventricula... |
ORPHA:2438 |
| Familial Hyperaldosteronism Type Iii |
|
Prolonged QT interval, Adrenal hyperplasia, Epistaxis, Hypercalciuria, Intracranial hemorrhage, H... |
ORPHA:251274 |
| Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Multicystic kidney dysplasia, Meningocele, Renal cyst, Glossoptosis, Biparietal narrowing, Chorio... |
ORPHA:2031 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Transient ischemic attack, Cardiac arrest, First degree atrioventricular... |
OMIM:115197 |
| Johanson-Blizzard Syndrome |
|
Delayed eruption of teeth, Death in infancy, Hypoplasia of penis, Hypospadias, Dextrocardia, Abno... |
ORPHA:2315 |
| Cole-Carpenter Syndrome 1 |
|
Communicating hydrocephalus, Frontal bossing, Micrognathia, Hydrocephalus, Midface retrusion, Mic... |
OMIM:112240 |
| Tenorio Syndrome |
|
Raynaud phenomenon, Hydrocephalus, Wide mouth, Macroglossia, Syncope, Gait disturbance, Recurrent... |
OMIM:616260 |
| Multiple Endocrine Neoplasia Type 4 |
|
Hyperparathyroidism, Angiofibromas, Pituitary corticotropic cell adenoma, Pituitary prolactin cel... |
ORPHA:276152 |
| Extracranial Carotid Artery Aneurysm |
|
Subarachnoid hemorrhage, Vasculitis, Arteriosclerosis, Hypertension, Stroke, Total anomalous pulm... |
ORPHA:494424 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Dental crowding, Bicuspid aortic valve, Coloboma, Cervical cord compression, Atrial septal defect... |
ORPHA:353281 |
| Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Hemolytic anemia, Dilation of Virchow-Robin spaces, Cerebral hemorrhage, Retinal arteriolar tortu... |
OMIM:175780 |
| Microphthalmia, Syndromic 16 |
|
Microphthalmia, Anophthalmia |
OMIM:611038 |
| Chromosome 1P36 Deletion Syndrome, Proximal |
|
Wolff-Parkinson-White syndrome, Frontal bossing, Bicuspid aortic valve, Ventricular septal defect... |
OMIM:619343 |
| Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Frontal bossing, Hypoplasia of penis, Hypoplasia of the ulna, Ventricular septal defect, Microgna... |
ORPHA:2256 |
| Lissencephaly Type 1 Due To Doublecortin Gene Mutation |
|
Pachygyria, Lateral ventricle dilatation, Dilation of Virchow-Robin spaces, Agyria |
ORPHA:2148 |
| Schimmelpenning-Feuerstein-Mims Syndrome |
|
Abnormality of dental color, Hyperphosphaturia, Precocious puberty, Cranial asymmetry, Horseshoe ... |
OMIM:163200 |
| Poretti-Boltshauser Syndrome |
|
Dilated fourth ventricle, Retinal atrophy, Retinal dystrophy, Retinal thinning, Gray matter heter... |
OMIM:615960 |
| Microphthalmia, Isolated 6 |
|
Microphthalmia, Retinal fold |
OMIM:613517 |
| Ciliary Dyskinesia, Primary, 39 |
|
Double outlet right ventricle, Dextrocardia |
OMIM:618254 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Median cleft lip, Tricuspid regurgitation, Intestinal malrotation, Hamartoma of tongue, Retinal d... |
OMIM:263520 |
| Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Ventricular hypertrophy, Bicuspid aortic valve, Ventricular septal defect, Celiac disease, Absent... |
ORPHA:284169 |
| Multiple Sulfatase Deficiency |
|
Smooth philtrum, Abnormality of retinal pigmentation, Hydrocephalus, Optic atrophy, Mucopolysacch... |
ORPHA:585 |
| Tuberous Sclerosis 1 |
|
Chordoma, Astrocytoma, Ependymoma, Gingival fibromatosis, Cardiac rhabdomyoma, Renal cell carcino... |
OMIM:191100 |
| 8P Inverted Duplication/Deletion Syndrome |
|
Dextrocardia, Micrognathia, Precocious puberty, High, narrow palate, Cryptorchidism, Abnormality ... |
ORPHA:96092 |
| Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Cerebra... |
OMIM:610655 |
| Heart And Brain Malformation Syndrome |
|
Ventricular septal defect, High, narrow palate, Cleft lip, Thick lower lip vermilion, Prominent o... |
OMIM:616920 |
| Mucopolysaccharidosis Type 1 |
|
Abnormal heart valve morphology, Malabsorption, Congestive heart failure, Hydrocephalus, Thick lo... |
ORPHA:579 |
| Intellectual Developmental Disorder, Autosomal Recessive 41 |
|
Mandibular prognathia, Frontal bossing, Scaphocephaly, High palate, Dolichocephaly, Retrognathia,... |
OMIM:615637 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Retinal atrophy, Micrognathia, Hydrocephalus, Optic atrophy, Buphthalmos, Coloboma, Hypoplasia of... |
OMIM:253280 |
| Vici Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy, Cardiomyopathy, Gray matter heterotopia, High... |
ORPHA:1493 |
| Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Mandibular prognathia, Frontal bossing, Exaggerated cupid's bow, Retinal dystrophy, Micrognathia,... |
OMIM:619512 |
| Oculocutaneous Albinism Type 1A |
|
Basal cell carcinoma, Squamous cell carcinoma of the skin |
ORPHA:79431 |
| Oculoauricular Syndrome |
|
Cone/cone-rod dystrophy, Retinal detachment, Morning glory anomaly, Rod-cone dystrophy, Phthisis ... |
OMIM:612109 |
| Smith-Magenis Syndrome |
|
Mandibular prognathia, Retinal detachment, Frontal bossing, Tented upper lip vermilion, Delayed e... |
ORPHA:819 |
| Cleft Palate, Proliferative Retinopathy, And Developmental Delay |
|
Micrognathia, Partial agenesis of the corpus callosum, Cleft palate, Short philtrum, Retinal neov... |
OMIM:619074 |
| Paganini-Miozzo Syndrome |
|
Downturned corners of mouth, Lateral ventricle dilatation, Thin vermilion border |
OMIM:301025 |
| Vitreoretinochoroidopathy |
|
Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re... |
OMIM:193220 |
| Woods Syndrome |
|
Ventricular septal defect, Thin vermilion border, Optic atrophy |
OMIM:615236 |
| Ventricular Septal Defect 2 |
|
Perimembranous ventricular septal defect |
OMIM:614431 |
| Tetrasomy 9P |
|
Dental crowding, Micrognathia, Downturned corners of mouth, High palate, Short philtrum, Micropen... |
ORPHA:3310 |
| Hereditary Acrokeratotic Poikiloderma |
|
Camptodactyly of finger, Transitional cell carcinoma of the bladder, Squamous cell carcinoma |
ORPHA:2907 |
| Krabbe Disease, Atypical, Due To Saposin A Deficiency |
|
Death in infancy, Peripheral axonal neuropathy, Increased CSF protein concentration, Ventriculome... |
OMIM:611722 |
| Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Decreased number of peripheral myelinated nerve fibers, Thin upper lip vermilion, Overriding aort... |
ORPHA:477817 |
| Ellis Van Creveld Syndrome |
|
Abnormal oral mucosa morphology, Micromelia, Epispadias, Conical incisor, Atrial septal defect, M... |
ORPHA:289 |
| Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Decreased motor nerve conduction velocity, Increased CSF protein concentration, Onion bulb format... |
OMIM:218000 |
| Fontaine Progeroid Syndrome |
|
Mandibular prognathia, Small scrotum, Bicuspid aortic valve, Micrognathia, High, narrow palate, B... |
OMIM:612289 |
| Trochlea Of The Humerus, Aplasia Of |
|
Cleft palate |
OMIM:191000 |
| Teebi Hypertelorism Syndrome 1 |
|
Thin upper lip vermilion, Natal tooth, Frontal bossing, Dental crowding, Ventricular septal defec... |
OMIM:145420 |
| Keutel Syndrome |
|
Ventricular septal defect, Pulmonary artery stenosis, Optic atrophy, Recurrent sinusitis, Pulmona... |
ORPHA:85202 |
| Pontocerebellar Hypoplasia, Type 9 |
|
Peripheral axonal neuropathy, Optic atrophy, Short upper lip, Macroglossia, Midface retrusion, Ve... |
OMIM:615809 |
| Aspergillosis |
|
Sinusitis, Abnormality of the kidney, Vitritis, Intracranial hemorrhage, Stroke, Abnormal esophag... |
ORPHA:1163 |
| Axial Mesodermal Dysplasia Spectrum |
|
Renal hypoplasia/aplasia, Micrognathia, Missing ribs, Hydrocephalus, Abnormality of the ureter, T... |
ORPHA:1834 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Short palm, Thin upper lip vermilion, Frontal bossing, Decreased response to growth hormone stimu... |
OMIM:241410 |
| Female Restricted Epilepsy With Intellectual Disability |
|
Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors |
ORPHA:101039 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
11 pairs of ribs, Frontal bossing, Rhizomelia, Hydrocephalus, Hypoplasia of the calcaneus, Microp... |
OMIM:300863 |
| Recombinant 8 Syndrome |
|
Small scrotum, Ventricular septal defect, Abnormality of the kidney, Cleft upper lip, Abnormality... |
ORPHA:96167 |
| Hypoplastic Left Heart Syndrome 2 |
|
Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia |
OMIM:614435 |
| Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects |
|
Optic disc pallor, Tethered cord, Dental crowding, Ataxia, Open bite, Cryptorchidism, Inability t... |
OMIM:620083 |
| Subaortic Stenosis-Short Stature Syndrome |
|
Micrognathia, Membranous subvalvular aortic stenosis, Subvalvular aortic stenosis, Microdontia, M... |
ORPHA:3191 |
| Cousin Syndrome |
|
Frontal bossing, Hypoplastic scapulae, Rhizomelia, Micrognathia, Hydrocephalus, Ambiguous genital... |
OMIM:260660 |
| Osteogenic Sarcoma |
|
Retinoblastoma, Osteosarcoma |
OMIM:259500 |
| Viss Syndrome |
|
Chronic gastritis, Epidural hemorrhage, Tortuous cerebral arteries, Micrognathia, High, narrow pa... |
OMIM:619472 |
| Autosomal Dominant Keratitis |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Coloboma, Macular hypoplasia, Hypoplastic iris... |
ORPHA:2334 |
| Tyshchenko Syndrome |
|
Ventricular septal defect, High, narrow palate, Narrow palate, Cleft palate, High palate, Pulmoni... |
OMIM:615102 |
| Desmosterolosis |
|
Partial agenesis of the corpus callosum, Hydrocephalus, Patent ductus arteriosus, Gingival fibrom... |
OMIM:602398 |
| Pfeiffer Syndrome |
|
Mandibular prognathia, Shortening of all middle phalanges of the fingers, Cloverleaf skull, Denta... |
OMIM:101600 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Leukopenia, Atrial septal defect, Patent foramen ovale, Tricuspid regurgitation, Patent ductus ar... |
ORPHA:505248 |
| Acromelic Frontonasal Dysplasia |
|
Encephalocele, Median cleft lip, Anterior pituitary hypoplasia, Cryptorchidism, Aplasia/Hypoplasi... |
ORPHA:1827 |
| Carnitine Palmitoyltransferase Ii Deficiency |
|
Hydrocephalus, Abnormality of neuronal migration, Cardiomyopathy, Arrhythmia, Pachygyria, Agenesi... |
ORPHA:157 |
| Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Encephalocele, Micromelia, Micrognathia, Hydrocephalus, Cleft palate, Short ribs, Malar flattenin... |
OMIM:224400 |
| Developmental And Epileptic Encephalopathy 80 |
|
Increased urine alpha-ketoglutarate concentration, Optic disc pallor, Ventriculomegaly, Tented up... |
OMIM:618580 |
| Nance-Horan Syndrome |
|
Mandibular prognathia, Retinal detachment, Short metacarpal, Abnormality of the dentition, Supern... |
ORPHA:627 |
| Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Atrial septal defect, Pyloric stenosis, Ventricular septal defect, Pulmonic stenosis |
OMIM:614262 |
| Microcephaly 27, Primary, Autosomal Dominant |
|
Cryptorchidism, Simplified gyral pattern, Extra-axial cerebrospinal fluid accumulation, Short fin... |
OMIM:619180 |
| Lethal Congenital Contracture Syndrome 5 |
|
Decreased nerve conduction velocity, Death in infancy, Subdural hemorrhage, Retinal hemorrhage |
OMIM:615368 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Microphthalmia, Retinal dysplasia |
OMIM:615771 |
| Bartsocas-Papas Syndrome 2 |
|
Accessory oral frenulum, Micrognathia, Small hand, Bilateral cleft lip and palate, Prominent occi... |
OMIM:619339 |
| Bohring-Opitz Syndrome |
|
Bilateral cleft palate, Ventricular septal defect, Intestinal malrotation, Supernumerary nipple, ... |
OMIM:605039 |
| Intellectual Developmental Disorder, Autosomal Recessive 79 |
|
Thin upper lip vermilion, Ventricular septal defect, Smooth philtrum |
OMIM:620393 |
| Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Frontal bossing, Short metacarpal, Ventricular septal defect, Craniosynostosis, Micrognathia, Cry... |
ORPHA:166035 |
| Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Communicating hydrocephalus, Patent ductus arteriosus, Tetralogy of Fallot, Anomalous pulmonary v... |
ORPHA:2184 |
| Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Microphthalmia, Coloboma, Frontal bossing, Micrognathia |
OMIM:617306 |
| Combined Oxidative Phosphorylation Deficiency 54 |
|
Optic disc pallor, Tachycardia, Hypergonadotropic hypogonadism, Dysplastic corpus callosum, Retro... |
OMIM:619737 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Mandibular prognathia, Hypospadias, Cryptorchidism, Thick lower lip vermilion, Small hand, Simpli... |
OMIM:300354 |
| Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Ectopic posterior pituitary, Decreased response to growth hormone stimulation test, Reduced circu... |
ORPHA:226307 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Facial palsy, Cryptorchidism, Micropenis, Macroglossia, Pigmentary retinopathy, Open mouth, Ventr... |
OMIM:613156 |
| Char Syndrome |
|
Ventricular septal defect, Supernumerary nipple, Persistence of primary teeth, No permanent denti... |
ORPHA:46627 |
| Griscelli Syndrome, Type 2 |
|
Reduced delayed hypersensitivity |
OMIM:607624 |
| Lymphedema-Distichiasis Syndrome |
|
Fibrosarcoma |
ORPHA:33001 |
| Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Optic disc coloboma, Cleft palate, High pala... |
ORPHA:52055 |
| Apert Syndrome |
|
Mandibular prognathia, Brachycephaly, Agenesis of corpus callosum, Bifid uvula, Sagittal craniosy... |
OMIM:101200 |
| Galloway-Mowat Syndrome 7 |
|
Diffuse mesangial sclerosis, Ventricular septal defect, Proteinuria, Minimal change glomeruloneph... |
OMIM:618348 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Thin upper lip vermilion, Cryptorchidism, Thrombocytopenia, Pierre-Robin sequence, Giant platelet... |
OMIM:611209 |
| Mckusick-Kaufman Syndrome |
|
Urethral stricture, Multicystic kidney dysplasia, Aganglionic megacolon, Ventricular septal defec... |
ORPHA:2473 |
| Baller-Gerold Syndrome |
|
Micrognathia, Brachycephaly, Patellar hypoplasia, Anteriorly placed anus, High palate, Spina bifi... |
OMIM:218600 |
| Opitz-Kaveggia Syndrome |
|
Dental crowding, Micrognathia, Partial agenesis of the corpus callosum, Anteriorly placed anus, H... |
OMIM:305450 |
| Martsolf Syndrome 1 |
|
Short palm, Short metacarpal, Hypogonadotropic hypogonadism, Cardiac arrest, Micrognathia, Hypopl... |
OMIM:212720 |
| Radius, Aplasia Of, With Cleft Lip/Palate |
|
Cleft palate, Cleft upper lip |
OMIM:179400 |
| Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Tetralogy of Fallot, Ventricular septal defect |
OMIM:617992 |
| Familial Hyperaldosteronism Type I |
|
Adrenal hyperplasia, Epistaxis, Abnormal circulating renin, Intracranial hemorrhage, Hypertension... |
ORPHA:403 |
| Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Abnormal occipital bone morphology, Simplified gyral pattern, Microphallus, Pelvic kidney, Pachyg... |
ORPHA:468631 |
| Trichothiodystrophy |
|
Cryptorchidism, Multiple joint contractures, Squamous cell carcinoma |
ORPHA:33364 |
| Opitz Gbbb Syndrome |
|
Bifid scrotum, Micrognathia, High palate, Atrial septal defect, Vesicoureteral reflux, Patent for... |
ORPHA:2745 |
| Marshall-Smith Syndrome |
|
Irregular dentition, Bilateral cryptorchidism, Anteriorly placed anus, Glossoptosis, Short philtr... |
OMIM:602535 |
| 15Q14 Microdeletion Syndrome |
|
Ventricular septal defect, Abnormality of the dentition, Cleft palate, Short philtrum, Long philt... |
ORPHA:261190 |
| Atelis Syndrome 2 |
|
Frontal bossing, Remnants of the hyaloid vascular system, Micrognathia, Diastema, Patent ductus a... |
OMIM:620185 |
| Cataract 11, Multiple Types |
|
Microphthalmia |
OMIM:610623 |
| 3Q29 Microdeletion Syndrome |
|
Dental crowding, Hypospadias, Abnormality of the dentition, Patent ductus arteriosus, Orofacial c... |
ORPHA:65286 |
| Aicardi-Goutieres Syndrome 9 |
|
Hemolytic anemia, Pericarditis, Portal hypertension, Pericardial effusion, Chorioretinal atrophy,... |
OMIM:619487 |
| Cornelia De Lange Syndrome 2 |
|
Smooth philtrum, Thin upper lip vermilion, Micrognathia, Small hand, Brachycephaly, Downturned co... |
OMIM:300590 |
| Opitz Gbbb Syndrome |
|
Thin upper lip vermilion, Frontal bossing, Hypospadias, Ventricular septal defect, Cleft upper li... |
OMIM:300000 |
| Spondylo-Ocular Syndrome |
|
Retinal detachment, Aplasia/Hypoplasia of the lens, Ventricular septal defect, Thin vermilion bor... |
ORPHA:85194 |
| Isotretinoin Syndrome |
|
Spina bifida occulta, Biparietal narrowing, Cleft palate, Micrognathia |
ORPHA:2305 |
| Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Thin upper lip vermilion, Hypospadias, Unilateral microphthalmos, Bilateral cleft lip and palate,... |
OMIM:618874 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, 35 |
|
Mandibular prognathia, Thin upper lip vermilion, Microretrognathia, Dilation of Virchow-Robin spa... |
OMIM:300998 |
| Familial Hyperaldosteronism Type Ii |
|
Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal c... |
ORPHA:404 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Prominence of the premaxilla, Hydrocephalus, Scaphocephaly, Cranial asymmetry, Patent ductus arte... |
OMIM:614886 |
| Chromosome 14Q11-Q22 Deletion Syndrome |
|
Lateral ventricular asymmetry, Unilateral cryptorchidism, Anterior pituitary hypoplasia, Ventricu... |
OMIM:613457 |
| Cataract 9, Multiple Types |
|
Microphthalmia, Iris coloboma |
OMIM:604219 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Duplicated collecting system, Hypospadias, Optic nerve hypoplasia, Craniosynostosis, Ventricular ... |
OMIM:301056 |
| Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Ventriculomegaly, Dental crowding, Persistence of primary teeth, Micrognathia, Thick lower lip ve... |
OMIM:618342 |
| Sifrim-Hitz-Weiss Syndrome |
|
Atrial septal defect, Renal insufficiency, Hypogonadotropic hypogonadism, Ventricular septal defe... |
OMIM:617159 |
| Whipple Disease |
|
Gastrointestinal hemorrhage, Pericarditis, Ataxia, Myocardial infarction, Malabsorption, Myocardi... |
ORPHA:3452 |
| Narp Syndrome |
|
Optic disc pallor, Retinal arteriolar tortuosity, Retinal pigment epithelial mottling, Rod-cone d... |
ORPHA:644 |
| Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Microdontia, Microphthalmia, Widely spaced teeth, Micrognathia |
OMIM:619694 |
| Capillary Malformation-Arteriovenous Malformation |
|
Abnormal bleeding, Peripheral arteriovenous fistula, Epistaxis, Cerebral arteriovenous malformati... |
ORPHA:137667 |
| 8p23.1 deletion syndrome |
|
Hyperactivity |
DECIPHER:39 |
| Thanatophoric Dysplasia Type 1 |
|
Patent ductus arteriosus, Hydrocephalus, Gray matter heterotopia, Atrial septal defect, Ventricul... |
ORPHA:1860 |
| Amelocerebrohypohidrotic Syndrome |
|
Abnormality of dental color, Abnormal dental enamel morphology, Hydrocephalus, Yellow-brown disco... |
ORPHA:1946 |
| Short-Rib Thoracic Dysplasia 12 |
|
Lobulated tongue, Holoprosencephaly, Short palm, Neonatal death, Hamartoma of tongue, Patent duct... |
OMIM:269860 |
| Hurler Syndrome |
|
Frontal bossing, Hypoplasia of the femoral head, Heparan sulfate excretion in urine, Hypoplasia o... |
OMIM:607014 |
| Chromosome 17Q12 Duplication Syndrome |
|
Cleft soft palate, Micrognathia, Esophageal atresia, Atrial septal defect, Microphthalmia, Smooth... |
OMIM:614526 |
| Hydrocephalus, Normal-Pressure, 1 |
|
Normal pressure hydrocephalus, Gait disturbance |
OMIM:236690 |
| Trigonocephaly With Short Stature And Developmental Delay |
|
Ventricular septal defect, Sagittal craniosynostosis, High palate, Broad alveolar ridges, Lambdoi... |
OMIM:314320 |
| Radio-Tartaglia Syndrome |
|
Thin upper lip vermilion, Dental crowding, Ventricular septal defect, Ataxia, Precocious puberty,... |
OMIM:619312 |
| Semilobar Holoprosencephaly |
|
Median cleft lip, Diabetes insipidus, Decreased response to growth hormone stimulation test, Abno... |
ORPHA:220386 |
| Alobar Holoprosencephaly |
|
Median cleft lip, Diabetes insipidus, Decreased response to growth hormone stimulation test, Abno... |
ORPHA:93925 |
| Midline Interhemispheric Variant Of Holoprosencephaly |
|
Median cleft lip, Diabetes insipidus, Decreased response to growth hormone stimulation test, Abno... |
ORPHA:93926 |
| Lobar Holoprosencephaly |
|
Median cleft lip, Diabetes insipidus, Decreased response to growth hormone stimulation test, Abno... |
ORPHA:93924 |
| Gastrointestinal Stromal Tumor |
|
Gastrointestinal stroma tumor, Esophageal neoplasm, Sarcoma |
ORPHA:44890 |
| Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Cardiac arrest, Delayed eruption of primary teeth, Thyroid C cell hyperplasia, Dilated cardiomyop... |
OMIM:300952 |
| Chromosome 5Q12 Deletion Syndrome |
|
Frontal bossing, Ventricular septal defect, Micrognathia, Patent ductus arteriosus, Wide mouth, M... |
OMIM:615668 |
| Teebi-Shaltout Syndrome |
|
Turricephaly, Ureteral stenosis, Ventricular septal defect, High, narrow palate, Scaphocephaly, C... |
OMIM:272950 |
| Fanconi Anemia, Complementation Group R |
|
Tethered cord, Hydrocephalus, Agenesis of permanent teeth, Anemia, Bone marrow hypocellularity, A... |
OMIM:617244 |
| Prader-Willi Syndrome Due To Translocation |
|
Thin upper lip vermilion, Hypogonadotropic hypogonadism, Decreased response to growth hormone sti... |
ORPHA:177907 |
| Acrofacial Dysostosis 1, Nager Type |
|
Aplasia/Hypoplasia of the thumb, Micrognathia, Aqueductal stenosis, Hypoplasia of first ribs, Foo... |
OMIM:154400 |
| Kleefstra Syndrome |
|
Mandibular prognathia, Hypoplasia of penis, Tented upper lip vermilion, Bicuspid aortic valve, Br... |
ORPHA:261494 |
| Trisomy 8Q |
|
Hypoplasia of penis, Micrognathia, Cryptorchidism, Non-midline cleft lip, Myelomeningocele, Cleft... |
ORPHA:1752 |
| Oligomeganephronia |
|
Branchial cyst, Renal insufficiency, Pulmonary venous occlusion, Proteinuria, Unilateral renal ag... |
ORPHA:2260 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Retinal dystrophy, Hydrocephalus, Polymicrogyria, Agyria, Ventriculomegaly |
OMIM:616538 |
| Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Mandibular prognathia, Abnormal dental enamel morphology, Hydrocephalus, High palate, Malar flatt... |
ORPHA:2180 |
| Primary Pulmonary Hypoplasia |
|
Ureteral stenosis, Dextrocardia, Micrognathia, Secundum atrial septal defect, Cleft palate, Patel... |
ORPHA:2257 |
| Osteopathia Striata With Cranial Sclerosis |
|
Dental crowding, Micrognathia, Partial agenesis of the corpus callosum, Craniofacial osteoscleros... |
OMIM:300373 |
| Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities |
|
Brachycephaly, Cleft palate, Plagiocephaly, High palate, Tooth malposition, Agenesis of corpus ca... |
OMIM:618603 |
| Hutchinson-Gilford Progeria Syndrome |
|
Short lingual frenulum, Dental crowding, Myocardial infarction, Micrognathia, Intracranial hemorr... |
ORPHA:740 |
| Hsd10 Disease |
|
Elevated urinary 3-hydroxybutyric acid, Abnormal urinary acylglycine profile, Optic atrophy, Vent... |
ORPHA:391417 |
| Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies |
|
Frontal bossing, Exaggerated cupid's bow, Supernumerary nipple, Cleft lip, Deep philtrum, Cleft p... |
OMIM:620098 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Delayed eruption of teeth, Micrognathia, Carious teeth, Cryptorchidism, Death in childhood, Thin ... |
OMIM:214150 |
| Glutathionuria |
|
Gray matter heterotopia, Dysdiadochokinesis, Agenesis of corpus callosum |
OMIM:231950 |
| Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Frontal bossing, Midface retrusion, Hydrocephalus, Abnormal renal morphology, Brachycephaly, Hypo... |
OMIM:207410 |
| 17P13.3 Microduplication Syndrome |
|
Frontal bossing, Hypoplasia of penis, High palate, Narrow mouth, Ventriculomegaly |
ORPHA:217385 |
| Aortic Arch Interruption |
|
Bicuspid aortic valve, Aortic valve atresia, Aortopulmonary window, Absent pulse, Single ventricl... |
ORPHA:2299 |
| Trisomy 5P |
|
Frontal bossing, Hypoplasia of penis, Renal hypoplasia/aplasia, Dolichocephaly, Ventriculomegaly |
ORPHA:1742 |
| Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
| Velocardiofacial Syndrome |
|
Hypoparathyroidism, Retinal vascular tortuosity, Ventricular septal defect, Cryptorchidism, Velop... |
OMIM:192430 |
| Zellweger Syndrome |
|
Death in infancy, Multicystic kidney dysplasia, Flat occiput, Hypospadias, Abnormal chorioretinal... |
ORPHA:912 |
| Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Tachycardia, Aganglionic megacolon, Ventricular septal defect, Patent ductus arteriosus, Hyperten... |
OMIM:613870 |
| Craniorachischisis |
|
Cervical spina bifida, Myelomeningocele, Anencephaly, Spinal dysraphism, Sirenomelia, Anal atresia |
ORPHA:63260 |
| Autosomal Recessive Spondylocostal Dysostosis |
|
Hypospadias, Cryptorchidism, Meningocele, Spina bifida occulta, Abnormality of the ureter, Cleft ... |
ORPHA:2311 |
| Wiskott-Aldrich Syndrome |
|
Abnormal eosinophil morphology, Microcytic anemia, Intracranial hemorrhage, Inflammation of the l... |
ORPHA:906 |
| Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Communicating hydrocephalus, Frontal bossing, Craniosynostosis, Unilateral renal agenesis, Microg... |
ORPHA:1064 |
| Meckel Syndrome, Type 6 |
|
Occipital encephalocele, Abnormal internal genitalia, Absent gallbladder, Cleft upper lip, Hydroc... |
OMIM:612284 |
| Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Bicuspid aortic valve, Micrognathia, Brachycephaly, Downturned corners of mouth, High palate, Atr... |
OMIM:610759 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Splenomegaly, Hydrocephalus, Optic atrophy, Lateral ventricle dilatation, Optic nerve compression... |
OMIM:612301 |
| Bone Marrow Failure Syndrome 6 |
|
Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia |
OMIM:618849 |
| Robinow Syndrome, Autosomal Dominant 3 |
|
Hypoplastic right heart, Micrognathia, Anteriorly placed anus, Downturned corners of mouth, Clito... |
OMIM:616894 |
| Smith-Kingsmore Syndrome |
|
Thin upper lip vermilion, Ventriculomegaly, Frontal bossing, Rhizomelia, Short proximal phalanx o... |
OMIM:616638 |
| Thakker-Donnai Syndrome |
|
Communicating hydrocephalus, Ventricular septal defect, Tracheoesophageal fistula, Downturned cor... |
ORPHA:1780 |
| Craniofaciofrontodigital Syndrome |
|
Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, Atrial septal defect,... |
ORPHA:363705 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Encephalocele, Miscarriage, Micromelia, Micrognathia, Cryptorchidism, Hydrocephalus, Cleft palate... |
ORPHA:1865 |
| Hydrocephalus, Endocardial Fibroelastosis, And Cataracts |
|
Communicating hydrocephalus, Endocardial fibroelastosis |
OMIM:600559 |
| Microform Holoprosencephaly |
|
Tented upper lip vermilion, Maternal diabetes, Hypothyroidism, Panhypopituitarism, Orofacial clef... |
ORPHA:280200 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Mandibular prognathia, Tented upper lip vermilion, Peripheral retinal avascularization, External ... |
ORPHA:96334 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Mandibular prognathia, External genital hypoplasia, High, narrow palate, Epispadias, Short palm, ... |
ORPHA:2658 |
| Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Hydrocephalus, Gait disturbance |
OMIM:613330 |
| Autosomal Recessive Robinow Syndrome |
|
Hypoplasia of penis, Tented upper lip vermilion, Micrognathia, Orofacial cleft, Downturned corner... |
ORPHA:1507 |
| Neonatal Adrenoleukodystrophy |
|
Abnormality of retinal pigmentation, Primary adrenal insufficiency, Optic atrophy, Abnormality of... |
ORPHA:44 |
| Bilateral Generalized Polymicrogyria |
|
Lateral ventricle dilatation |
ORPHA:208447 |
| Pelger-Huet Anomaly |
|
Frontal bossing, Ventricular septal defect, Abnormality of the dentition, Gingival overgrowth, Up... |
OMIM:169400 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Optic disc pallor, Facial palsy, Micrognathia, Hydrocephalus, Cranial hyperostosis, Optic atrophy... |
OMIM:259720 |
| Radial Aplasia, X-Linked |
|
Absent radius, Hydrocephalus, Penile hypospadias, Anal atresia |
OMIM:312190 |
| Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Small scrotum, Micrognathia, Renal cyst, Short philtrum, Microphallus, Vesicoureteral reflux, Pat... |
OMIM:618454 |
| Chromosome 2P16.1-P15 Deletion Syndrome |
|
Thin upper lip vermilion, Optic nerve hypoplasia, High, narrow palate, Cryptorchidism, Brachyceph... |
OMIM:612513 |
| Frontofacionasal Dysplasia |
|
Cleft upper lip, Brachycephaly, Orofacial cleft, Bifid uvula, Midface retrusion, Cranium bifidum ... |
OMIM:229400 |
| Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Thin upper lip vermilion, Atrial septal defect, Exaggerated cupid's bow, Intestinal malrotation, ... |
OMIM:618316 |
| Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome |
|
Thin upper lip vermilion, Everted upper lip vermilion, Optic nerve hypoplasia, Micrognathia, Deep... |
OMIM:618381 |
| Hyperparathyroidism-Jaw Tumor Syndrome |
|
Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Fibroma, Primary hyperparathyroi... |
ORPHA:99880 |
| Nelson Syndrome |
|
Increased urinary cortisol level, Testicular neoplasm, Pituitary corticotropic cell adenoma, Adre... |
ORPHA:199244 |
| Cerebrooculofacioskeletal Syndrome 2 |
|
Small scrotum, Micrognathia, Death in childhood, Microphthalmia, Micropenis |
OMIM:610756 |
| Ulnar Hemimelia |
|
Hypoplastic scapulae, Hand oligodactyly, Aplasia of metacarpal bones, Upper limb phocomelia, Hemi... |
ORPHA:93320 |
| Spastic Paraplegia 50, Autosomal Recessive |
|
Mandibular prognathia, Optic disc pallor, Wide mouth, High palate, Short philtrum, Ventriculomegaly |
OMIM:612936 |
| Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Retinal detachment, Retinal dystrophy, Macular atrophy, Buphthalmos, Chorioretinal coloboma, Micr... |
OMIM:212550 |
| 48,Xxyy Syndrome |
|
Delayed eruption of teeth, Broad jaw, Hypoplasia of penis, Flat occiput, Hypergonadotropic hypogo... |
ORPHA:10 |
| Holoprosencephaly 3 |
|
Proboscis, Cleft lip, Cleft palate, Hydronephrosis, Holoprosencephaly, Midface retrusion, Solitar... |
OMIM:142945 |
| Heterotaxy, Visceral, 2, Autosomal |
|
Intestinal malrotation, Dextrocardia, Situs inversus totalis, Atrioventricular canal defect, Aspl... |
OMIM:605376 |
| Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Isosexual precocious puberty, Premature thelarche, Precocious puberty, Renal salt wasting, Increa... |
ORPHA:90795 |
| Intellectual Developmental Disorder, X-Linked 12 |
|
Cryptorchidism, Gait disturbance, Abnormality of neuronal migration, Ventriculomegaly |
OMIM:300957 |
| Phace Syndrome |
|
Optic nerve hypoplasia, Cerebral arteriovenous malformation, Lens coloboma, Coarctation of aorta,... |
ORPHA:42775 |
| Cerebrofacioarticular Syndrome |
|
Irregular dentition, Anal stenosis, Ataxia, Dysplastic corpus callosum, Absence of pubertal devel... |
ORPHA:314679 |
| Split Cord Malformation |
|
Neurogenic bladder, Tethered cord, Hypospadias, Urinary incontinence, Detrusor sphincter dyssyner... |
ORPHA:573278 |
| Chromosome 15Q25 Deletion Syndrome |
|
Tented upper lip vermilion, Flat occiput, Ventricular septal defect, Dextrocardia, Cleft upper li... |
OMIM:614294 |
| Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Ventricular septal defect, Unilateral renal agenesis, Abnormally large globe, Cryptorchidism, Inc... |
OMIM:618504 |
| Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Hyperactivity, Transient hyperphenylalaninemia, Aggressive behavior |
OMIM:612716 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2 |
|
Carpal bone hypoplasia, Malar flattening, Midface retrusion, Spinal dysraphism |
OMIM:603546 |
| Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Ventricular hypertrophy, Mitral valve calcification, Congestive heart failure, Pulmonary carcinoi... |
ORPHA:363618 |
| Oculodentodigital Dysplasia, Autosomal Recessive |
|
Delayed eruption of teeth, Frontal bossing, Dental crowding, Micrognathia, Hypoplasia of the maxi... |
OMIM:257850 |
| Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Ventricular septal defect, Intestinal malrotation, Cerebral hemorrhage, Hypoplastic philtrum, Hia... |
OMIM:616682 |
| Developmental And Epileptic Encephalopathy 1 |
|
Plagiocephaly, Microphthalmia, Micropenis |
OMIM:308350 |
| Microphthalmia, Syndromic 1 |
|
Anophthalmia, Dental crowding, Bicuspid aortic valve, High, narrow palate, Rectal prolapse, Orofa... |
OMIM:309800 |
| Joubert Syndrome 30 |
|
Gray matter heterotopia, Dandy-Walker malformation, Retinal dystrophy, Ventriculomegaly |
OMIM:617622 |
| Weill-Marchesani Syndrome |
|
Aortic valve stenosis, Ventricular septal defect, Mitral regurgitation, Pulmonic stenosis |
ORPHA:3449 |
| Dpm1-Cdg |
|
Ventriculomegaly, Tented upper lip vermilion, Flat occiput, External genital hypoplasia, Microgna... |
ORPHA:79322 |
| Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Retinal dystrophy, Remnants of the hyaloid vascular system, Posterior lenticonus, Chorioretinal c... |
ORPHA:231736 |
| Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation |
|
Ventricular septal defect |
OMIM:209770 |
| Gracile Bone Dysplasia |
|
Death in infancy, Hydrocephalus, Aniridia, Microphthalmia, Micropenis, Ankyloglossia |
OMIM:602361 |
| Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Lateral ventricular asymmetry, High, narrow palate, Hydrocephalus, Dural ectasia, Mitral valve pr... |
OMIM:616914 |
| Lymphedema-Distichiasis Syndrome |
|
Ventricular septal defect, Cleft upper lip, Micrognathia, Patent ductus arteriosus, Cleft palate,... |
OMIM:153400 |
| Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Dysplastic corpus callosum, Lateral ventricle dilatation, Gait disturbance, Gait imbalance, Diffi... |
ORPHA:488627 |
| Den Hoed-De Boer-Voisin Syndrome |
|
Delayed eruption of teeth, Lactose intolerance, Ventriculomegaly, Ventricular septal defect, Atax... |
OMIM:619229 |
| Laubry-Pezzi Syndrome |
|
Aortic regurgitation, Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Ab... |
ORPHA:99094 |
| Acquired Purpura Fulminans |
|
Shock, Intracranial hemorrhage, Prolonged prothrombin time, Macular purpura, Internal hemorrhage,... |
ORPHA:49566 |
| Joubert Syndrome 37 |
|
Frontal bossing, Cryptorchidism, Hydronephrosis, High palate, Microphthalmia, Micropenis, Decreas... |
OMIM:619185 |
| Coloboma, Ocular, Autosomal Dominant |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Morning glory anomaly, Optic disc c... |
OMIM:120200 |
| Frontonasal Dysplasia 2 |
|
Encephalocele, Craniosynostosis, Conical tooth, Bilateral cryptorchidism, Parietal foramina, Calv... |
OMIM:613451 |
| Distal 22Q11.2 Microduplication Syndrome |
|
Mandibular prognathia, Branchial fistula, Frontal bossing, Tricuspid regurgitation, Ventricular s... |
ORPHA:261337 |
| Alexander Disease |
|
Diabetes mellitus, Ataxia, Facial palsy, Sudden cardiac death, Aqueductal stenosis, Hypothyroidis... |
ORPHA:58 |
| Mend Syndrome |
|
Abnormal auditory evoked potentials, Asymmetry of the mouth, Micrognathia, Cryptorchidism, Hydroc... |
ORPHA:401973 |
| Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis |
|
Thin upper lip vermilion, Hydrocephalus, Optic atrophy, Downturned corners of mouth, Wide mouth, ... |
OMIM:618590 |
| Oxoglutaric Aciduria |
|
Hydrocephalus, Ataxia, Abnormal salivary gland morphology |
ORPHA:31 |
| Galloway-Mowat Syndrome 5 |
|
Mandibular prognathia, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeruloscle... |
OMIM:617731 |
| Trigonocephaly-Short Stature-Developmental Delay Syndrome |
|
Broad secondary alveolar ridge, High palate, Ventricular septal defect |
ORPHA:3369 |
| Neurodevelopmental Disorder With Visual Defects And Brain Anomalies |
|
Thin upper lip vermilion, Frontal bossing, Flat occiput, Optic atrophy, Unilateral facial palsy, ... |
OMIM:618547 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Short femur, Hypospadias, Ventricular septal defect, Cardiomegaly, Micrognathia, Brachycephaly, C... |
OMIM:616897 |
| Agnathia-Otocephaly Complex |
|
Secundum atrial septal defect, Situs inversus totalis, Aglossia, Cleft palate, Holoprosencephaly,... |
OMIM:202650 |
| Smith-Lemli-Opitz Syndrome |
|
Dental crowding, Partial agenesis of the corpus callosum, Holoprosencephaly, Atrial septal defect... |
OMIM:270400 |
| Holoprosencephaly-Caudal Dysgenesis Syndrome |
|
Renal insufficiency, Median cleft lip, Abnormal cerebral vascular morphology, Cleft palate, Holop... |
ORPHA:2165 |
| Neutral Lipid Storage Myopathy |
|
Diabetes mellitus, Congestive heart failure, Pineal cyst, Cardiomyopathy, Difficulty walking |
ORPHA:98908 |
| Robinow Syndrome, Autosomal Dominant 2 |
|
Dental crowding, Micrognathia, Oligodontia, Micropenis, Calvarial osteosclerosis, Cleft soft pala... |
OMIM:616331 |
| Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Reduced delayed hypersensitivity, Increased circulating IgE level, Increased circulating IgM leve... |
OMIM:617241 |
| Propionic Acidemia |
|
Pancytopenia, Cerebellar hemorrhage, Anemia, Cardiomyopathy, Neutropenia, Thrombocytopenia |
OMIM:606054 |
| Parathyroid Carcinoma |
|
Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Fibroma, Primary hyperparathyroi... |
ORPHA:143 |
| Hydrolethalus Syndrome 1 |
|
Median cleft lip, Hypospadias, Ventricular septal defect, Bifid uterus, Micrognathia, Complete at... |
OMIM:236680 |
| Hurler Syndrome |
|
Angina pectoris, Abnormal heart valve morphology, Splenomegaly, Hydrocephalus, Macroglossia, Card... |
ORPHA:93473 |
| Heterotaxy, Visceral, 12, Autosomal |
|
Dextrotransposition of the great arteries, Atrial septal defect, Pulmonary artery atresia, Patent... |
OMIM:619702 |
| Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome |
|
Cleft palate, Non-midline cleft lip, Lip pit |
ORPHA:1072 |
| Isovaleric Acidemia |
|
Pancytopenia, Cerebellar hemorrhage, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:243500 |
| Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Branchial cyst, Micrognathia, Downturned corners of mouth, Atrial septal defect, Patent foramen o... |
OMIM:620186 |
| Oncogenic Osteomalacia |
|
Neoplasm of the skeletal system, Neoplasm of head and neck, Neurofibroma, Carcinoma, Giant cell t... |
ORPHA:352540 |
| Knobloch Syndrome 1 |
|
Duplicated collecting system, Occipital encephalocele, Retinal detachment, Optic disc pallor, Ren... |
OMIM:267750 |
| Aicardi Syndrome |
|
Intestinal polyposis, Retinal detachment, Abnormality of retinal pigmentation, Prominence of the ... |
ORPHA:50 |
| Braddock-Carey Syndrome 1 |
|
Aortic valve prolapse, Ventricular septal defect, Pierre-Robin sequence, Cleft palate, Anteriorly... |
OMIM:619980 |
| Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:300946 |
| Dyskeratosis Congenita, Digenic |
|
Melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin, Decreased testicular size |
OMIM:620040 |
| Kindler Epidermolysis Bullosa |
|
Camptodactyly of finger, Flexion contracture, Neoplasm of the urethra, Squamous cell carcinoma |
ORPHA:2908 |
| Orofaciodigital Syndrome Vi |
|
Accessory oral frenulum, Cleft upper lip, Hamartoma of tongue, Cleft palate, Coarctation of aorta... |
OMIM:277170 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Abnormality of the spleen, Bacterial endocarditis, Ecchymosis, Papilledema, Hepatosplenomegaly, V... |
ORPHA:2072 |
| Heterotaxy, Visceral, 6, Autosomal |
|
Dextrocardia, Situs inversus totalis, Common atrium, Right aortic arch, Hypoplastic left heart, T... |
OMIM:614779 |
| Vici Syndrome |
|
Leukopenia, T lymphocytopenia, Abnormal thymus morphology, High palate, Neutropenia, Atrial septa... |
OMIM:242840 |
| Acrofrontofacionasal Dysostosis 1 |
|
Mandibular prognathia, Short metacarpal, Cleft upper lip, Optic atrophy, Brachycephaly, Cleft pal... |
OMIM:201180 |
| Hajdu-Cheney Syndrome |
|
Micrognathia, Absent frontal sinuses, Downturned corners of mouth, Periodontitis, Iris coloboma, ... |
ORPHA:955 |
| Curry-Jones Syndrome |
|
Bicoronal synostosis, Anal stenosis, Intestinal pseudo-obstruction, Intestinal malrotation, Lip p... |
OMIM:601707 |
| 3Mc Syndrome 1 |
|
Conjunctival telangiectasia, Dental crowding, Ventricular septal defect, Supernumerary nipple, Cl... |
OMIM:257920 |
| Fryns Syndrome |
|
Bifid scrotum, Ureteral duplication, Tented upper lip vermilion, Ectopic pancreatic tissue, Renal... |
OMIM:229850 |
| Short Stature-Micrognathia Syndrome |
|
Small scrotum, Ventricular septal defect, Rhizomelia, Micrognathia, Cryptorchidism, Scaphocephaly... |
OMIM:617164 |
| 17Q12 Microduplication Syndrome |
|
Atrial septal defect, Microphthalmia, Tracheoesophageal fistula, Cleft palate |
ORPHA:261272 |
| Cocaine Intoxication |
|
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Myocardial infarction, Diffuse alveola... |
ORPHA:90068 |
| Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Papilledema, Bicuspid aortic valve, Ventricular septal defect, Premature thelarche, Atrioventricu... |
ORPHA:371428 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Hypospadias, Selective tooth agenesis, Supernumerary nipple, Cleft upper lip, Conical tooth, Vent... |
OMIM:106260 |
| X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Diffuse leiomyomatosis, Vulvar neoplasm, Tracheobronchial leiomyomatosis, Vaginal neoplasm, Esoph... |
ORPHA:1018 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Hypoplasia of the maxilla, Bilateral microphthalmos, Coloboma, Dolichocephaly, Microphthalmia |
ORPHA:2399 |
| Mucopolysaccharidosis Type 2 |
|
Communicating hydrocephalus, Abnormal tricuspid valve morphology, Retinal degeneration, Papillede... |
ORPHA:580 |
| Isolated Posterior Meningocele |
|
Tethered cord, Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Hydromyelia,... |
ORPHA:268810 |
| Xeroderma Pigmentosum, Complementation Group A |
|
Melanoma, Squamous cell carcinoma of the skin |
OMIM:278700 |
| Mohr Syndrome |
|
Short palm, Median cleft lip, Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla, H... |
OMIM:252100 |
| Sacral Defect With Anterior Meningocele |
|
Myeloschisis, Neurogenic bladder, Tethered cord, Absence of the sacrum, Myelomeningocele, Meningo... |
OMIM:600145 |
| Ciliary Dyskinesia, Primary, 37 |
|
Right aortic arch, Situs inversus totalis, Dextrocardia, Goiter |
OMIM:617577 |
| Galloway-Mowat Syndrome 3 |
|
Diffuse mesangial sclerosis, Frontal bossing, Proteinuria, Hiatus hernia, Micrognathia, Stage 5 c... |
OMIM:617729 |
| Histidinemia |
|
Hyperactivity, Hyperhistidinemia |
ORPHA:2157 |
| Momo Syndrome |
|
Delayed eruption of teeth, Frontal bossing, Thick lower lip vermilion, Dental malocclusion, Bilat... |
ORPHA:2563 |
| Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Tented upper lip vermilion, Micrognathia, Oligodontia, Aplasia of the distal phalanx of the 5th f... |
OMIM:608670 |
| 15Q11.2 Microdeletion Syndrome |
|
Dilated fourth ventricle, Ventricular septal defect, Ataxia, Coarctation of aorta, Abnormal heart... |
ORPHA:261183 |
| Adams-Oliver Syndrome 6 |
|
Tricuspid regurgitation, Ventricular septal defect, Portal hypertension, Esophageal varix, Renal ... |
OMIM:616589 |
| 3-Hydroxyisobutyric Aciduria |
|
Micrognathia, Hypogonadotropic hypogonadism, Ventriculomegaly, Long philtrum |
ORPHA:939 |
| Cornelia De Lange Syndrome 1 |
|
Micromelia, Ectopic kidney, Micrognathia, High, narrow palate, Brachycephaly, Renal cyst, Downtur... |
OMIM:122470 |
| Microcephaly-Capillary Malformation Syndrome |
|
Ventricular septal defect, Hypoplasia of the maxilla, Optic atrophy, Vesicoureteral reflux, Cleft... |
OMIM:614261 |
| Cardiomyopathy, Dilated, 1S |
|
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... |
OMIM:613426 |
| Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Decreased serum insulin-like growth factor 1, Patent ductus arteriosus, Hydrocephalus, High palat... |
OMIM:618162 |
| Silver-Russell Syndrome 1 |
|
Frontal bossing, Urethral valve, Hypospadias, Decreased response to growth hormone stimulation te... |
OMIM:180860 |
| Neurocardiofaciodigital Syndrome |
|
Dilated fourth ventricle, Optic disc pallor, Patent ductus arteriosus, Lateral ventricle dilatati... |
OMIM:619869 |
| Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Ataxia, Abnormality of neutrophils, Hydrocephalus, Ocular albinism, High palate, Hypochromic anemia |
ORPHA:2720 |
| Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Frontal bossing, Dental crowding, Intestinal malrotation, Hypospadias, Ventricular septal defect,... |
OMIM:617602 |
| Myopathy With Extrapyramidal Signs |
|
Peripheral axonal neuropathy, Tented upper lip vermilion, Ventricular septal defect, Ataxia, Sple... |
OMIM:615673 |
| Methimazole Embryofetopathy |
|
Hypospadias, Ventricular septal defect, Esophageal atresia, Tracheoesophageal fistula, Coarctatio... |
ORPHA:1923 |
| Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Brachycephaly, Short philtrum, Widely spaced teeth, Chorioretinal coloboma, Cleft lip, Pulmonary ... |
OMIM:280000 |
| Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity |
|
Neurogenic bladder, Optic atrophy, Simplified gyral pattern, Hypoplastic optic chiasm, Extra-axia... |
OMIM:617669 |
| Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Optic disc pallor, Flat occiput, Hypospadias, Ventricular septal defect, Protruding tongue, Micro... |
OMIM:214100 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Ventricular septal defect, Abnormal cortical gyration, Pachygyria, Cryptorchidism, Partial agenes... |
OMIM:210710 |
| Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Bradycardia |
OMIM:616277 |
| Smith-Lemli-Opitz Syndrome |
|
Hypoplasia of penis, Micrognathia, Holoprosencephaly, Biparietal narrowing, Advanced eruption of ... |
ORPHA:818 |
| Chromosome 1P36 Deletion Syndrome, Distal |
|
Bicuspid aortic valve, Orofacial cleft, High palate, Atrial septal defect, Pachygyria, Hypothyroi... |
OMIM:607872 |
| Genitourinary And/Or Brain Malformation Syndrome |
|
Streak ovary, Jejunal atresia, Ileal atresia, Dysplastic corpus callosum, Cryptorchidism, Gray ma... |
OMIM:618820 |
| Tetrasomy 18P |
|
Abnormality of neuronal migration, Thin vermilion border, Syncope, Gait disturbance, Narrow mouth... |
ORPHA:3307 |
| Heterotaxy, Visceral, 5, Autosomal |
|
Atrial reentry tachycardia, Ureteral duplication, Dextrotransposition of the great arteries, Atri... |
OMIM:270100 |
| Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
Ventricular septal defect, Bilateral cryptorchidism, Patent ductus arteriosus, Optic disc colobom... |
OMIM:300472 |
| Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Dilation of Virchow-Robin spaces, Celiac disease, Dysplastic corpus callosum, Bilateral cryptorch... |
ORPHA:544488 |
| 46,Xx Sex Reversal 5 |
|
Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect |
OMIM:618901 |
| Catel-Manzke Syndrome |
|
Short humerus, Short metacarpal, Overriding aorta, Ventricular septal defect, Dextrocardia, Short... |
OMIM:616145 |
| Pyruvate Dehydrogenase E1-Beta Deficiency |
|
Ataxia, Periventricular heterotopia, Pachygyria, Agenesis of corpus callosum, Ventriculomegaly |
ORPHA:255138 |
| Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Ventriculomegaly, Recurrent urinary tract infections, Hypospadias, Abnormality of the kidney, End... |
ORPHA:363444 |
| Fanconi Anemia, Complementation Group D2 |
|
Ectopic kidney, Aplasia of the 1st metacarpal, Micropenis, Pelvic kidney, Renal duplication, Esop... |
OMIM:227646 |
| Kaposiform Lymphangiomatosis |
|
Abnormal bleeding, Epidural hemorrhage, Epistaxis, Pancreatic cysts, Pericardial effusion, Thromb... |
ORPHA:464329 |
| Delpire-Mcneill Syndrome |
|
Ventricular septal defect, Agenesis of corpus callosum |
OMIM:619083 |
| Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Absent nipple, Patent ductus arteriosus, Hydrocephalus, Mitral valve prolapse, High palate, Umbil... |
OMIM:104350 |
| Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Thin upper lip vermilion, Dental crowding, Ventricular septal defect, Micrognathia, Patent ductus... |
OMIM:617061 |
| Criss-Cross Heart |
|
Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten... |
ORPHA:1461 |
| Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Ventriculomegaly, Narrow mouth, Cryptorchidism, Patent ductus arteriosus, Cleft palate, Thin verm... |
OMIM:615502 |
| Congenital Alveolar Capillary Dysplasia |
|
Absent gallbladder, Aganglionic megacolon, Intestinal malrotation, Bicuspid aortic valve, Ventric... |
ORPHA:210122 |
| Witteveen-Kolk Syndrome |
|
Decreased response to growth hormone stimulation test, High, narrow palate, Intracranial hemorrha... |
OMIM:613406 |
| Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Ataxia, Hydrocephalus, Optic atrophy, Arteriosclerosis, Retinopathy |
ORPHA:220295 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Cerebellar hemorrhage, Stage 5 chronic kidney disease, Methylmalonic aciduria, Cardiomyopathy, Tu... |
OMIM:251000 |
| Lambotte Syndrome |
|
Semilobar holoprosencephaly, Retrognathia, Ventricular septal defect, Narrow mouth |
OMIM:245552 |
| Pfeiffer Syndrome Type 2 |
|
Cloverleaf skull, Intestinal malrotation, Short hallux, Aqueductal stenosis, Hydrocephalus, Small... |
ORPHA:93259 |
| Goldberg-Shprintzen Megacolon Syndrome |
|
Bifid scrotum, Aganglionic megacolon, Hypospadias, Cleft palate, Pachygyria, Iris coloboma, Ventr... |
ORPHA:66629 |
| Serkal Syndrome |
|
Abnormal penis morphology, Hypoplasia of the bladder, Hypospadias, Ventricular septal defect, Ren... |
ORPHA:139466 |
| Kury-Isidor Syndrome |
|
Frontal bossing, Tented upper lip vermilion, Ventricular septal defect, Brachycephaly, Exudative ... |
OMIM:619762 |
| Methylcobalamin Deficiency Type Cble |
|
Macrocytic anemia, Pancytopenia, Hydrocephalus, Hypertension, Increased mean corpuscular volume, ... |
ORPHA:2169 |
| Mosaic Trisomy 16 |
|
Single coronary artery origin, Hypospadias, Ventricular septal defect, Large placenta, Patent duc... |
ORPHA:1708 |
| Peters Plus Syndrome |
|
Ureteral duplication, Micromelia, Micrognathia, Brachycephaly, Clitoral hypoplasia, Widely spaced... |
ORPHA:709 |
| Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Mandibular prognathia, Death in infancy, Cerebral hemorrhage, Subdural hemorrhage, High palate, D... |
OMIM:620278 |
| Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque... |
OMIM:620141 |
| Trichothiodystrophy 4, Nonphotosensitive |
|
Ventricular septal defect, Optic atrophy, Hypoplasia of teeth, Microphthalmia, Retrognathia |
OMIM:234050 |
| Microcephaly, Epilepsy, And Diabetes Syndrome 2 |
|
Lateral ventricle dilatation, Diabetes mellitus, Elevated hemoglobin A1c |
OMIM:619278 |
| Congenital Pseudoarthrosis Of The Clavicle |
|
Situs inversus totalis, Congenital pseudoarthrosis of the clavicle, Dextrocardia |
ORPHA:66630 |
| Curry-Jones Syndrome |
|
Intestinal malrotation, Craniosynostosis, Optic disc coloboma, Microphthalmia, Iris coloboma |
ORPHA:1553 |
| Congenital Varicella Syndrome |
|
Microphthalmia, Micromelia |
ORPHA:291 |
| Stormorken Syndrome |
|
Abnormal bleeding, Howell-Jolly bodies, Epistaxis, Subarachnoid hemorrhage, Asplenia, Thrombocyto... |
OMIM:185070 |
| Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Communicating hydrocephalus, Sideroblastic anemia, Ataxia, Splenomegaly, Schistocytosis, Hypochro... |
OMIM:616084 |
| Macs Syndrome |
|
Irregular dentition, Prolonged bleeding time, Dilation of Virchow-Robin spaces, Hypergonadotropic... |
OMIM:613075 |
| Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Thin upper lip vermilion, Tented upper lip vermilion, Ventricular septal defect, Cleft upper lip,... |
OMIM:600987 |
| Incontinentia Pigmenti |
|
Delayed eruption of teeth, Retinal detachment, Abnormal dental morphology, Abnormal dental enamel... |
ORPHA:464 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3 |
|
Optic atrophy, Ventriculomegaly |
OMIM:613151 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 2 |
|
Peripheral pulmonary artery stenosis, Anal stenosis, Tented upper lip vermilion, Aganglionic mega... |
OMIM:614749 |
| 6Q Terminal Deletion Syndrome |
|
Periventricular heterotopia, High, narrow palate, Abnormality of neuronal migration, Dysmetria, G... |
ORPHA:75857 |
| Frontonasal Dysplasia 3 |
|
Microphthalmia, Brachycephaly, Cleft palate |
OMIM:613456 |
| Mucopolysaccharidosis Type 3 |
|
Cardiomegaly, Atrioventricular block, Loss of ambulation, Retinal degeneration, Ataxia, Thick ver... |
ORPHA:581 |
| Trisomy 8P |
|
Peripheral pulmonary artery stenosis, Abnormal atrioventricular connection, Cryptorchidism, Hydro... |
ORPHA:264450 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Thin upper lip vermilion, Frontal bossing, Atrial septal defect, Dental crowding, Ventricular sep... |
OMIM:309520 |
| Cooper-Jabs Syndrome |
|
Frontal bossing, Ventricular septal defect, Missing ribs, Brachycephaly, Anteriorly placed anus, ... |
ORPHA:1488 |
| Oeis Complex |
|
Epispadias, Ambiguous genitalia, female, Anteriorly placed anus, Ambiguous genitalia, male, Dupli... |
OMIM:258040 |
| Neuronal Intranuclear Inclusion Disease |
|
Decreased motor nerve conduction velocity, Urinary incontinence, CSF pleocytosis, Decreased senso... |
OMIM:603472 |
| Pseudo-Torch Syndrome 1 |
|
Microretrognathia, Renal insufficiency, Cleft lip, Patent ductus arteriosus, High palate, Lissenc... |
OMIM:251290 |
| Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Thin upper lip vermilion, Ventriculomegaly, Intestinal malrotation, Velopharyngeal insufficiency,... |
OMIM:614701 |
| Full Nf2-Related Schwannomatosis |
|
Remnants of the hyaloid vascular system, Facial palsy, Bilateral vestibular schwannoma, Retinal h... |
ORPHA:637 |
| Bryant-Li-Bhoj Neurodevelopmental Syndrome 1 |
|
Mandibular prognathia, Frontal bossing, Ventriculomegaly, Tented upper lip vermilion, Exaggerated... |
OMIM:619720 |
| Pontocerebellar Hypoplasia, Type 11 |
|
Coloboma, Anal atresia |
OMIM:617695 |
| Double Outlet Right Ventricle |
|
Hypoparathyroidism, Tachycardia, Ventricular septal defect, Intestinal malrotation, Submucous cle... |
ORPHA:3426 |
| Xeroderma Pigmentosum, Complementation Group G |
|
Microphthalmia |
OMIM:278780 |
| Immunodeficiency, Common Variable, 1 |
|
Decreased circulating total IgM, Decreased circulating IgG level, Impaired T cell function, Decre... |
OMIM:607594 |
| Fadd-Related Immunodeficiency |
|
Ventricular septal defect |
ORPHA:306550 |
| Yuan-Harel-Lupski Syndrome |
|
Thin upper lip vermilion, Broad-based gait, Bicuspid aortic valve, Ventricular septal defect, Dec... |
OMIM:616652 |
| Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Micrognathia, Absent radius, Ocular albi... |
ORPHA:1352 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Ventricular septal defect, Focal polymicrogyria, Dysplastic corpus callosum, Partial agenesis of ... |
OMIM:619103 |
| Chromosome 8Q21.11 Deletion Syndrome |
|
Short metacarpal, Exaggerated cupid's bow, Micrognathia, Cryptorchidism, Cleft palate, Downturned... |
OMIM:614230 |
| Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome |
|
Mandibular prognathia, Glomerulonephritis, Chronic kidney disease, High palate, Ventriculomegaly |
ORPHA:2172 |
| Femoral-Facial Syndrome |
|
Thin upper lip vermilion, Short femur, Renal hypoplasia/aplasia, Micrognathia, Cryptorchidism, Lo... |
ORPHA:1988 |
| Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Delayed eruption of teeth, Cryptorchidism, Patent ductus arteriosus, Thick lower lip vermilion, W... |
OMIM:619797 |
| Gaucher Disease, Type Iiic |
|
Mitral valve calcification, Pancytopenia, Cardiomegaly, Aortic valve calcification, Hydrocephalus... |
OMIM:231005 |
| Seckel Syndrome 9 |
|
Atrial septal defect, Recurrent urinary tract infections, Ventricular septal defect, Micrognathia... |
OMIM:616777 |
| 19P13.12 Microdeletion Syndrome |
|
Aortic regurgitation, Short palm, Hypospadias, Ventricular septal defect, Craniosynostosis, Preco... |
ORPHA:254346 |
| H Syndrome |
|
Diabetes mellitus, Malabsorption, Cleft upper lip, Microcytic anemia, Hydrocephalus, Abnormal car... |
ORPHA:168569 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Mandibular prognathia, Hypospadias, Ventricular septal defect, Renal agenesis, Protruding tongue,... |
OMIM:301040 |
| Meacham Syndrome |
|
Atrial septal defect, Hypoplasia of penis, Crossed fused renal ectopia, Ventricular septal defect... |
ORPHA:3097 |
| Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Cryptorchidism, Hydrocephalus, Small hand, Brachycephaly, Plagiocephaly, Short foot, Hypogonadism... |
ORPHA:500055 |
| Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Abnormal left ventricular function, Leukopenia, Ecchymosis, Internal hemorrh... |
ORPHA:99827 |
| Ogden Syndrome |
|
Everted upper lip vermilion, Ventricular septal defect, High, narrow palate, Pulmonary artery ste... |
ORPHA:276432 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Ketonuria, Renal hypoplasia, High palate, Microphthalmia, Hypertrophic cardiomyopathy |
OMIM:619053 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Short metacarpal, Retinal atrophy, ... |
ORPHA:85167 |
| Hydrocephalus, Congenital, 4 |
|
Communicating hydrocephalus, Ventriculomegaly |
OMIM:618667 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Bifid scrotum, Micrognathia, Short metatarsal, Patellar hypoplasia, Hand monodactyly, Clitoral hy... |
OMIM:609945 |
| Atelis Syndrome 1 |
|
Ventricular septal defect, Carious teeth, High palate, Long philtrum, Atrial septal defect |
OMIM:620184 |
| Microhydranencephaly |
|
Hydranencephaly, Pachygyria, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:605013 |
| Fanconi Anemia, Complementation Group S |
|
Macrodontia, Dental malocclusion, Narrow palate, Ovarian neoplasm, Ovarian carcinoma, Microphthal... |
OMIM:617883 |
| Cog5-Cdg |
|
Cryptorchidism, Hepatosplenomegaly, Lateral ventricle dilatation, High palate, Truncal ataxia |
ORPHA:263487 |
| Lethal Omphalocele-Cleft Palate Syndrome |
|
Cleft soft palate, Bifid uterus, Hydrocephalus, Cleft palate, Unilateral cleft lip, Retrognathia,... |
ORPHA:2736 |
| Beemer-Ertbruggen Syndrome |
|
Communicating hydrocephalus, Micrognathia, Cryptorchidism, Deep philtrum, Ambiguous genitalia |
ORPHA:1237 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Aortic regurgitation, Retinal detachment, Optic disc pallor, Ventricular septal defect, Cryptorch... |
ORPHA:464311 |
| Dysosteosclerosis |
|
Delayed eruption of teeth, Craniofacial hyperostosis, Ventricular septal defect, Abnormal dental ... |
ORPHA:1782 |
| Cardiofaciocutaneous Syndrome 1 |
|
Peripheral axonal neuropathy, Abnormality of the dentition, Open bite, Micrognathia, Hydrocephalu... |
OMIM:115150 |
| Tetraamelia Syndrome 1 |
|
Hypoplasia of the fallopian tube, Renal agenesis, Absent external genitalia, Cleft upper lip, Mic... |
OMIM:273395 |
| Microphthalmia, Isolated 2 |
|
Microphthalmia |
OMIM:610093 |
| Contractural Arachnodactyly, Congenital |
|
Frontal bossing, Bicuspid aortic valve, Ventricular septal defect, Micrognathia, Patent ductus ar... |
OMIM:121050 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 15 |
|
Pigmentary retinopathy, Death in adolescence, Ventriculomegaly, Increased CSF lactate |
OMIM:619059 |
| Carpenter Syndrome 2 |
|
Bilateral cryptorchidism, High, narrow palate, Brachycephaly, High palate, Atrial septal defect, ... |
OMIM:614976 |
| Chime Syndrome |
|
Short palm, Abnormal dental morphology, Ventricular septal defect, Abnormality of the kidney, Abn... |
ORPHA:3474 |
| C Syndrome |
|
Short metacarpal, Ventricular septal defect, Accessory oral frenulum, Micromelia, Micrognathia, C... |
OMIM:211750 |
| Fraser Syndrome 3 |
|
Hypoplasia of the bladder, Hypoplasia of penis, Small scrotum, Micrognathia, Hydrocephalus, Short... |
OMIM:617667 |
| Cardiac Septal Defects With Coarctation Of The Aorta |
|
Secundum atrial septal defect, Perimembranous ventricular septal defect |
OMIM:212090 |
| Timothy Syndrome |
|
Prolonged QT interval, Ventricular septal defect, Cardiomegaly, Ventricular tachycardia, Atrioven... |
OMIM:601005 |
| Congenital Myopathy 22A, Classic |
|
Frontal bossing, Dental crowding, Micrognathia, Scaphocephaly, Normal pressure hydrocephalus, Hig... |
OMIM:620351 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Dental crowding, Bicuspid aortic valve, Micrognathia, Coloboma, High palate, Cervical cord compre... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Dental crowding, Bicuspid aortic valve, Micrognathia, Coloboma, High palate, Cervical cord compre... |
ORPHA:353277 |
| Roifman-Chitayat Syndrome |
|
Short metacarpal, Ectopic kidney, Thin lower lip vermilion, Optic atrophy, Short metatarsal, Umbi... |
OMIM:613328 |
| Fanconi Anemia, Complementation Group F |
|
Decreased response to growth hormone stimulation test, Absent thumb, Cryptorchidism, Patent ductu... |
OMIM:603467 |
| 8Q24.3 Microdeletion Syndrome |
|
Gastrointestinal hemorrhage, Thin upper lip vermilion, Ectopic posterior pituitary, Branchial cys... |
ORPHA:508488 |
| Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Micrognathia, Narrow mouth, Brachycephaly, Cleft palate, High palate, Hypoplastic nipples, Long p... |
OMIM:156610 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Mandibular prognathia, Hyperparathyroidism, Flat occiput, Dental crowding, Chorioretinal dysplasi... |
ORPHA:534 |
| Chromosome 19P13.13 Deletion Syndrome |
|
Frontal bossing, Optic atrophy, Optic nerve hypoplasia, Ventriculomegaly |
OMIM:613638 |
| Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Thin upper lip vermilion, Atrial septal defect, Short lingual frenulum, Ventricular septal defect... |
OMIM:617360 |
| Plasminogen Deficiency, Type I |
|
Ventriculomegaly, Duodenal ulcer, Hydrocephalus, Gingival overgrowth, Gingivitis, Nephrolithiasis... |
OMIM:217090 |
| Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment |
|
Thin upper lip vermilion, Unsteady gait, Fetal intraventricular hemorrhage, High palate, Smooth p... |
OMIM:618480 |
| Cardiofaciocutaneous Syndrome 3 |
|
Ventricular septal defect, Wide mouth, Pulmonic stenosis, Atrial septal defect, Hypertrophic card... |
OMIM:615279 |
| Premature Aging Syndrome, Penttinen Type |
|
Delayed eruption of teeth, Frontal bossing, Prominent superficial veins, Micrognathia, Hypoplasia... |
OMIM:601812 |
| Linear Verrucous Nevus Syndrome |
|
Aplasia/Hypoplasia of the fovea, Short metacarpal, Abnormality of the kidney, Dandy-Walker malfor... |
ORPHA:2611 |
| Cerebrooculofacioskeletal Syndrome 4 |
|
Abnormal retinal morphology, Micrognathia, Bilateral microphthalmos, Abnormal heart morphology, S... |
OMIM:610758 |
| Galloway-Mowat Syndrome |
|
Abnormality of the dentition, Aqueductal stenosis, Hiatus hernia, Abnormality of neuronal migrati... |
ORPHA:2065 |
| Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Microretrognathia, Frontal bossing, Tricuspid regurgitation, Ventricular septal defect, Micromeli... |
OMIM:618870 |
| Orofaciodigital Syndrome Xvi |
|
Ataxia, Hamartoma of tongue, Inability to walk, Gray matter heterotopia, Retinopathy, Ventriculom... |
OMIM:617563 |
| Hemorrhagic Fever-Renal Syndrome |
|
Anuria, Acute tubulointerstitial nephritis, Intracranial hemorrhage, Tubulointerstitial nephritis... |
ORPHA:340 |
| Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Frontal bossing, Rhizomelia, Urinary incontinence, Hydrocephalus, Uterine leiomyoma, Mesomelia, N... |
OMIM:616482 |
| Koolen-De Vries Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Cleft upper lip, Pyloric stenosis, Patent ductu... |
OMIM:610443 |
| Acyl-Coa Dehydrogenase 9 Deficiency |
|
Dicarboxylic aciduria, Sudden cardiac death, Congestive heart failure, Cerebellar hemorrhage, Dil... |
ORPHA:99901 |
| Microcephaly 20, Primary, Autosomal Recessive |
|
Optic nerve hypoplasia, Renal hypoplasia, Hypoplasia of the uterus, Ureteral agenesis, Bilateral ... |
OMIM:617914 |
| Mend Syndrome |
|
Microretrognathia, Micrognathia, Cryptorchidism, Hydrocephalus, High palate, Macular hypoplasia, ... |
OMIM:300960 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Frontal bossing, Unilateral microphthalmos, Optic atrophy, Facial palsy |
OMIM:615085 |
| Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Tented upper lip vermilion, Exaggerated cupid's bow, Delayed peripheral myelination, Abnormality ... |
ORPHA:364577 |
| Ataxia-Deafness-Intellectual Disability Syndrome |
|
Decreased nerve conduction velocity, Ventriculomegaly, Abnormal palate morphology |
ORPHA:1188 |
| Heterotaxy, Visceral, 8, Autosomal |
|
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Aortopulmonary collater... |
OMIM:617205 |
| Bainbridge-Ropers Syndrome |
|
Thin upper lip vermilion, Dental crowding, Intestinal malrotation, Supernumerary nipple, Precocio... |
OMIM:615485 |
| Au-Kline Syndrome |
|
Downturned corners of mouth, Oligodontia, High palate, Vesicoureteral reflux, Bifid uvula, Sagitt... |
OMIM:616580 |
| Holoprosencephaly 1 |
|
Proboscis, Alobar holoprosencephaly, Micropenis, Single ventricle, Microphthalmia, Cyclopia, Ethm... |
OMIM:236100 |
| Marfan Syndrome |
|
Dental crowding, Micrognathia, High, narrow palate, Increased axial length of the globe, Hypoplas... |
ORPHA:558 |
| Cowden Syndrome 1 |
|
Goiter, Fibroadenoma of the breast, Breast carcinoma, Carcinoma, Hamartomatous polyposis, Ovarian... |
OMIM:158350 |
| Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Optic nerve hypoplasia, Unilateral renal agenesis, Hydrocephalus, Plagiocephaly, Aplasia of the v... |
ORPHA:457284 |
| Refsum Disease |
|
Abnormality of retinal pigmentation, Renal insufficiency, Short metacarpal, Heart block, Cardiomy... |
ORPHA:773 |
| Autoerythrocyte Sensitization Syndrome |
|
Gastrointestinal hemorrhage, Epistaxis, Intracranial hemorrhage, Hematuria, Oral cavity bleeding,... |
ORPHA:324636 |
| Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Dextrocardia, Situs inversus totalis, St... |
OMIM:613095 |
| 46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Hypoplasia of the bladder, Hypospadias, Ventricular septal defect, Renal agenesis, Ovotestis, Cle... |
OMIM:611812 |
| Floating-Harbor Syndrome |
|
Short middle phalanx of the 2nd finger, Glandular hypospadias, Downturned corners of mouth, Nephr... |
OMIM:136140 |
| Gaucher Disease |
|
Abnormal bleeding, Mitral valve calcification, Pancytopenia, Abnormal heart valve morphology, Abn... |
ORPHA:355 |
| Manitoba Oculotrichoanal Syndrome |
|
Anal stenosis, Anophthalmia, Anteriorly placed anus, Microphthalmia, Vaginal atresia |
OMIM:248450 |
| Cockayne Syndrome B |
|
Mandibular prognathia, Abnormal peripheral myelination, Hypoplasia of the iris, Death in childhoo... |
OMIM:133540 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Death in infancy, Polyuria, Micrognathia, Pericardial effusion, Cryptorchidism, Hematochezia, Col... |
OMIM:618183 |
| Roifman Syndrome |
|
Thin upper lip vermilion, Noncompaction cardiomyopathy, Retinal dystrophy, Ventricular septal def... |
OMIM:616651 |
| Ring Chromosome 13 Syndrome |
|
Bifid scrotum, Aplasia/Hypoplasia of the thumb, Micrognathia, High palate, Short philtrum, Microp... |
ORPHA:96176 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6 |
|
Macroglossia, Pachygyria, Facial palsy, Abnormality of neuronal migration |
OMIM:608840 |
| Alzahrani-Kuwahara Syndrome |
|
Optic disc pallor, Frontal bossing, Hypospadias, Pulmonary artery sling, Coronary sinus enlargeme... |
OMIM:619268 |
| Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies |
|
Thin upper lip vermilion, Flat occiput, Ventricular septal defect, Cryptorchidism, Brachycephaly,... |
OMIM:617452 |
| Wieacker-Wolff Syndrome, Female-Restricted |
|
Microretrognathia, Facial palsy, Urinary incontinence, Brachycephaly, Cleft palate, Downturned co... |
OMIM:301041 |
| Cockayne Syndrome A |
|
Abnormal peripheral myelination, Retinal atrophy, Ataxia, Retinal pigment epithelial mottling, Cr... |
OMIM:216400 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Bifid scrotum, Bicuspid aortic valve, High, narrow palate, Coloboma, Short philtrum, High palate,... |
OMIM:619475 |
| Orofaciodigital Syndrome Type 14 |
|
Dilated fourth ventricle, Ventricular septal defect, Accessory oral frenulum, Hamartoma of tongue... |
ORPHA:434179 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Cleft upper lip, Precocious puberty, Brachycephaly, Cleft palate, Bifid uvula, Ventriculomegaly |
OMIM:300958 |
| Turcot Syndrome With Polyposis |
|
Glioblastoma multiforme, Brain neoplasm, Astrocytoma, Soft tissue neoplasm, Glioma, Pilomatrixoma... |
ORPHA:99818 |
| Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Hypospadias, Ventricular septal defect, Cleft upper lip, Cryptorchidism, Patent ductus arteriosus... |
OMIM:600460 |
| Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Dental crowding, Ventricular septal defect, Persistence of primary teeth, Hiatus hernia, Patent d... |
OMIM:619769 |
| Insulin-Like Growth Factor I, Resistance To |
|
Thin upper lip vermilion, Rieger anomaly, Ventricular septal defect, Micrognathia, Small hand, Sh... |
OMIM:270450 |
| Cole-Carpenter Syndrome |
|
Communicating hydrocephalus, Frontal bossing, Delayed eruption of teeth, Turricephaly, Abnormal d... |
ORPHA:2050 |
| Phaver Syndrome |
|
Ventricular septal defect, Short thumb, Myelomeningocele, Hypoplastic aortic arch, Coarctation of... |
ORPHA:2876 |
| Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Duodenal atresia, Ventricular septal defect, Abnormal tricuspid valve morphology, Intestinal atresia |
ORPHA:3405 |
| Familial Cerebral Cavernous Malformation |
|
Retinal cavernous angioma, Cerebral hemorrhage, Spinal cord lesion, Neuroma, Choroidal hemangioma... |
ORPHA:221061 |
| Holt-Oram Syndrome |
|
Paroxysmal atrial fibrillation, Ventricular septal defect, First degree atrioventricular block, A... |
ORPHA:392 |
| Kagami-Ogata Syndrome |
|
Frontal bossing, Ventricular septal defect, Micrognathia, Hypoplasia of the maxilla, Patent ductu... |
OMIM:608149 |
| Esophageal Atresia |
|
Barrett esophagus, Abnormal external genitalia, Intestinal malrotation, Ventricular septal defect... |
ORPHA:1199 |
| Primary Non-Essential Cutis Verticis Gyrata |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:357225 |
| Warsaw Breakage Syndrome |
|
Ventricular septal defect, Optic disc coloboma, Wide mouth, High palate, Tetralogy of Fallot |
OMIM:613398 |
| Trichothiodystrophy 3, Photosensitive |
|
Natal tooth, Trigonocephaly, Carious teeth, Pyloric stenosis, Bilateral cryptorchidism, Eclabion,... |
OMIM:616395 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Anterior pituitary hypoplasia, Aqueductal stenosis, Secundum atrial septal defect, Primum atrial ... |
OMIM:619534 |
| Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Hypospadias, Optic atrophy, Simplified gyral pattern, Increased CSF lactate, Ventriculomegaly |
OMIM:618253 |
| Myhre Syndrome |
|
Mandibular prognathia, External genital hypoplasia, Hypoplasia of the maxilla, Epispadias, Short ... |
ORPHA:2588 |
| Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Ataxia, Cryptorchidism, Inability to walk, H... |
ORPHA:505237 |
| Gm1 Gangliosidosis |
|
Mandibular prognathia, Frontal bossing, Ventricular septal defect, Abnormal retinal vascular morp... |
ORPHA:354 |
| Familial Multiple Lipomatosis |
|
Odontogenic keratocysts of the jaw, Coloboma, Chorioretinitis, Abnormal tricuspid valve morpholog... |
ORPHA:199276 |
| Orofaciodigital Syndrome Xv |
|
Midline notch of upper alveolar ridge, Lobulated tongue, Agenesis of corpus callosum, Hydronephro... |
OMIM:617127 |
| Pallister-Hall Syndrome |
|
Small scrotum, Ectopic kidney, Gonadotropin deficiency, Holoprosencephaly, Atrial septal defect, ... |
ORPHA:672 |
| King-Denborough Syndrome |
|
Ventricular septal defect, Bilateral cryptorchidism, Cryptorchidism, Deep philtrum, Scaphocephaly... |
OMIM:619542 |
| Tuberous Sclerosis Complex |
|
Retinal astrocytic hamartoma, Angiofibromas, Retinal hamartoma, Pancreatic endocrine tumor, Pitui... |
ORPHA:805 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Fused labia majora, Adrenal hyperplasia, High, narrow palate, Brachycephaly, Anteriorly placed an... |
ORPHA:95699 |
| Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Ventricular septal defect, Pulmonary artery stenosis, Abnormality of the anterior pituitary, Rena... |
ORPHA:75389 |
| Mpdu1-Cdg |
|
Decreased response to growth hormone stimulation test, Optic atrophy, Renal cortical cysts, Promi... |
ORPHA:79323 |
| Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
| Cardiac Valvular Dysplasia 1 |
|
Arteria lusoria, Atrial septal defect, Pulmonary artery atresia, Patent foramen ovale, Tricuspid ... |
OMIM:212093 |
| Intellectual Developmental Disorder, Autosomal Dominant 64 |
|
Thin upper lip vermilion, Ventriculomegaly, Micrognathia, Plagiocephaly, High palate, Short philt... |
OMIM:619188 |
| Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Mandibular prognathia, Frontal bossing, Supernumerary nipple, Lip pit, Brachycephaly, Hypodontia,... |
ORPHA:1236 |
| Hellp Syndrome |
|
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Cerebral hemorrhage, Prolo... |
ORPHA:244242 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Ventricular septal defect, Cryptorchidism, Aortic root aneurysm, Mitral regurgitation, Short phil... |
OMIM:301039 |
| Myhre Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla, Short philtrum, Atrial septal defect, Pericardi... |
OMIM:139210 |
| Duplication Of The Pituitary Gland |
|
Encephalocele, Supernumerary tooth, Abnormal pituitary gland morphology, Abnormality of the tongu... |
ORPHA:314621 |
| Mitochondrial Complex I Deficiency, Nuclear Type 6 |
|
Optic disc pallor, Optic atrophy, Ventriculomegaly |
OMIM:618228 |
| Peters-Plus Syndrome |
|
Hypoplasia of the vagina, Ureteral duplication, Short lingual frenulum, Bilobate gallbladder, Mic... |
OMIM:261540 |
| Sotos Syndrome |
|
Mandibular prognathia, Frontal bossing, Atrial septal defect, Ventricular septal defect, Abnormal... |
OMIM:117550 |
| Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Frontal bossing, Short metacarpal, Ventricular septal defect, Craniosynostosis, Micrognathia, Ren... |
OMIM:250410 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Prolonged QRS complex, Left axis deviation, Cardiomegaly, Congestive heart failure, Hydrocephalus... |
OMIM:261740 |
| 4Q21 Microdeletion Syndrome |
|
Frontal bossing, Micromelia, Abnormality of the dentition, Small hand, Downturned corners of mout... |
ORPHA:238750 |
| Loeys-Dietz Syndrome 1 |
|
Atrial septal defect, Bicuspid aortic valve, Eosinophilic infiltration of the esophagus, Arterial... |
OMIM:609192 |
| Oculocutaneous Albinism Type 2 |
|
Basal cell carcinoma, Squamous cell carcinoma of the skin, Cutaneous melanoma |
ORPHA:79432 |
| Kabuki Syndrome 1 |
|
Hemolytic anemia, Anal stenosis, Ventricular septal defect, Intestinal malrotation, Premature the... |
OMIM:147920 |
| Galloway-Mowat Syndrome 1 |
|
Diffuse mesangial sclerosis, Renal insufficiency, Flat occiput, Proteinuria, Hiatus hernia, Micro... |
OMIM:251300 |
| Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Hypoplasia of the maxilla, Cleft palate, Aplasia/Hypoplasia of the frontal sinuses, Cranium bifid... |
ORPHA:306542 |
| Fanconi Anemia, Complementation Group L |
|
Hypoplastic sacrum, Unilateral renal agenesis, Micrognathia, Absent thumb, Esophageal atresia, Hy... |
OMIM:614083 |
| 5Q14.3 Microdeletion Syndrome |
|
Open mouth, Short philtrum, Optic nerve hypoplasia, Ventriculomegaly |
ORPHA:228384 |
| Congenital Primary Aphakia |
|
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Retinal dysplasia, ... |
ORPHA:83461 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
11 pairs of ribs, Frontal bossing, Atrial septal defect, Portal hypertension, Craniosynostosis, M... |
OMIM:620005 |
| Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies |
|
Proteinuria, Renal hypoplasia, Beta 2-microglobulinuria, Renal cortical hyperechogenicity, Reduce... |
OMIM:611555 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Deep philtrum, High palate, Widely spaced teeth, Atrial septal defect, Patent foramen ovale, Bifi... |
OMIM:617506 |
| Cowden Syndrome 6 |
|
Goiter, Fibroadenoma of the breast, Breast carcinoma, Hamartomatous polyposis, Ovarian cyst, Hydr... |
OMIM:615109 |
| Idiopathic Hypereosinophilic Syndrome |
|
Generalized lymphadenopathy, Pulmonary embolism, Intracranial hemorrhage, Colitis, Neutrophilia, ... |
ORPHA:3260 |
| Maternal Uniparental Disomy Of Chromosome 6 |
|
Ventriculomegaly, Miscarriage, Cleft upper lip, Cleft palate, Hydrocele testis, Rod-cone dystroph... |
ORPHA:96181 |
| Pierson Syndrome |
|
Diffuse mesangial sclerosis, Retinal detachment, Rieger anomaly, Hypoplasia of the ciliary body, ... |
OMIM:609049 |
| Warburg Micro Syndrome 2 |
|
Small scrotum, Cryptorchidism, Optic atrophy, Brachycephaly, Hypoplastic labia majora, Microphtha... |
OMIM:614225 |
| 49,Xxxyy Syndrome |
|
Mandibular prognathia, External genital hypoplasia, Abnormality of the testis size, Micrognathia,... |
ORPHA:261534 |
| Loeys-Dietz Syndrome 5 |
|
Tented upper lip vermilion, Ventricular septal defect, Cleft soft palate, Eosinophilic infiltrati... |
OMIM:615582 |
| Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Ureteral duplication, Micrognathia, Short metatarsal, Renal cyst, Macular degeneration, Widely sp... |
OMIM:266920 |
| Microphthalmia, Isolated, With Coloboma 9 |
|
Retinal detachment, Macular coloboma, Long philtrum, Microphthalmia, Iris coloboma |
OMIM:615145 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Ventricular septal defect, Micromelia, Hypoplasia of the radius, Prominent occiput, Short ribs, D... |
OMIM:617895 |
| Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Retinal dystrophy, Intestinal malrotation, Cleft soft palate, Optic nerve hypoplasia, Hydrocephal... |
OMIM:619321 |
| Idiopathic Uveal Effusion Syndrome |
|
Microphthalmia, Exudative retinal detachment, Retinal fold, Subretinal fluid |
ORPHA:209956 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Foot joint contracture, Flexion contracture, Squamous cell carcinoma, Basal cell carcinoma, Cutan... |
ORPHA:79408 |
| Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Tented upper lip vermilion, Flat occiput, Optic atrophy, Plagiocephaly, Extra-axial cerebrospinal... |
OMIM:619383 |
| Cardiofaciocutaneous Syndrome |
|
Frontal bossing, Cryptorchidism, Hydrocephalus, Submucous cleft hard palate, Optic atrophy, High ... |
ORPHA:1340 |
| Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Short lingual frenulum, Lateral ventricle dilatation, Widely spaced teeth, Small pituitary gland,... |
OMIM:619479 |
| Tetrasomy 5P |
|
Congestive heart failure, Hydrocephalus, Heart murmur, High palate, Long philtrum, Pulmonary arte... |
ORPHA:3309 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ... |
OMIM:620066 |
| Loeys-Dietz Syndrome 2 |
|
Bicuspid aortic valve, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve, Atrial septa... |
OMIM:610168 |
| 9Q21.13 Microdeletion Syndrome |
|
Cryptorchidism, Abnormal tongue morphology, Abnormal heart morphology, Downturned corners of mout... |
ORPHA:531151 |
| Congenital Erythropoietic Porphyria |
|
Neoplasm of the skin, Squamous cell carcinoma |
ORPHA:79277 |
| Congenital Disorder Of Glycosylation, Type If |
|
Death in infancy, Optic atrophy, Renal cortical cysts, Thin vermilion border, Parietal bossing, V... |
OMIM:609180 |
| Aorta Coarctation |
|
Pseudocoarctation of the aorta, Bicuspid aortic valve, Cardiomegaly, Congestive heart failure, Pa... |
ORPHA:1457 |
| Mowat-Wilson Syndrome |
|
Bifid scrotum, Widely spaced teeth, Chorioretinal coloboma, Atrial septal defect, Iris coloboma, ... |
OMIM:235730 |
| Dubowitz Syndrome |
|
Delayed eruption of teeth, Hypoparathyroidism, Anal stenosis, Aplasia/Hypoplasia of the thumb, Hy... |
ORPHA:235 |
| Paternal Uniparental Disomy Of Chromosome 6 |
|
Ventricular septal defect, Cardiomegaly, Precocious puberty, Cryptorchidism, Labial hypertrophy, ... |
ORPHA:96191 |
| Kleefstra Syndrome Due To A Point Mutation |
|
Natal tooth, Ventriculomegaly, Abnormality of the kidney, Abnormality of the dentition, Precociou... |
ORPHA:261652 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Oropharyngeal squamous cell carcinoma, Esophageal carcinoma |
ORPHA:391487 |
| Takenouchi-Kosaki Syndrome |
|
Thin upper lip vermilion, Ventriculomegaly, Hypospadias, Unilateral renal agenesis, Cryptorchidis... |
OMIM:616737 |
| Oculotrichoanal Syndrome |
|
Anteriorly placed anus, Microphthalmia, Anal stenosis, Anophthalmia |
ORPHA:2717 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Renal insufficiency, Proteinuria, Hemolytic-uremic syndrome, Cystathioninuria, Hydrocephalus, Met... |
OMIM:277400 |
| Coffin-Siris Syndrome 7 |
|
Thin upper lip vermilion, Bicuspid aortic valve, Ventricular septal defect, Sagittal craniosynost... |
OMIM:618027 |
| Orofaciodigital Syndrome Xvii |
|
Median cleft lip, Short middle phalanx of the 2nd finger, High, narrow palate, Renal hypoplasia, ... |
OMIM:617926 |
| 19P13.3 Microduplication Syndrome |
|
Unilateral cryptorchidism, Ventricular septal defect, Micrognathia, Precocious puberty, Cleft pal... |
ORPHA:447980 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Simplified gyral pattern, Downturned corners of mouth, Short philtrum, Atrial septal defect, Bifi... |
ORPHA:500150 |
| Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Thin upper lip vermilion, Atrial septal defect, Dextrocardia, Homocystinuria, Cystathioninuria, P... |
OMIM:277380 |
| Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Persistence of primary teeth, Conical tooth, Dental malocclusion, Optic atrophy, Oligodontia, Mic... |
OMIM:618727 |
| Tempi Syndrome |
|
Intracranial hemorrhage, Abnormality of the kidney, Telangiectasia |
ORPHA:284227 |
| Hajdu-Cheney Syndrome |
|
Hypospadias, Intestinal malrotation, Ventricular septal defect, Micrognathia, Absent frontal sinu... |
OMIM:102500 |
| 49,Xyyyy Syndrome |
|
Turricephaly, External genital hypoplasia, Abnormality of the testis size, Micrognathia, Increase... |
ORPHA:99330 |
| Craniofacioskeletal Syndrome |
|
Thin upper lip vermilion, Absent gallbladder, Hypospadias, Ventricular septal defect, Micrognathi... |
OMIM:300712 |
| Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
|
Cleft soft palate, Choroid plexus cyst, Lateral ventricle dilatation, Short philtrum, Smooth phil... |
ORPHA:293725 |
| Monosomy 22 |
|
Aplasia of the thymus, Schwannoma, Contractures of the large joints, Gonadal neoplasm, Meningioma... |
ORPHA:96123 |
| Truncus Arteriosus |
|
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... |
ORPHA:3384 |
| Gapo Syndrome |
|
Frontal bossing, Facial palsy, Micrognathia, Retinal arteriolar tortuosity, High, narrow palate, ... |
OMIM:230740 |
| Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Neoplasm of the adrenal gland, ... |
ORPHA:231625 |
| 8Q21.11 Microdeletion Syndrome |
|
Hypoplasia of penis, Exaggerated cupid's bow, Abnormality of the dentition, Micrognathia, Cryptor... |
ORPHA:284160 |
| Musculocontractural Ehlers-Danlos Syndrome |
|
Microretrognathia, Thin upper lip vermilion, Retinal detachment, Craniosynostosis, Cleft lip, Cry... |
ORPHA:2953 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Delayed eruption of teeth, Abnormal pulmonary valve morphology, Premature loss of primary teeth, ... |
ORPHA:667 |
| Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Cryptorchidism, Lateral ventricle dilatation |
OMIM:619847 |
| Hallermann-Streiff Syndrome |
|
Natal tooth, Frontal bossing, Abnormality of the dentition, Micrognathia, High, narrow palate, Su... |
ORPHA:2108 |
| Arachnoiditis |
|
Hydrocephalus |
ORPHA:137817 |
| Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome |
|
Thin upper lip vermilion, Supernumerary nipple, Abnormality of canine, Cryptorchidism, Colpocepha... |
ORPHA:477993 |
| Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Ventricular septal defect, Abnormal right ventri... |
ORPHA:500095 |
| Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Frontal bossing, Craniosynostosis, Micrognathia, Hypoplasia of the maxilla, Cryptorchidism, Hydro... |
OMIM:182212 |
| Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Communicating hydrocephalus, Ataxia |
ORPHA:1861 |
| Snijders Blok-Campeau Syndrome |
|
Frontal bossing, Taurodontia, High palate, Widely spaced teeth, Umbilical hernia, Enamel hypoplas... |
OMIM:618205 |
| Kaufman Oculocerebrofacial Syndrome |
|
Thin upper lip vermilion, Optic disc pallor, Clitoral hypertrophy, Ventricular septal defect, Int... |
OMIM:244450 |
| Oculodentodigital Dysplasia |
|
Mandibular prognathia, Neurogenic bladder, Median cleft lip, Ventricular septal defect, Abnormal ... |
ORPHA:2710 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Dysgammaglobulinemia, Impaired Ig class switch recombination, Increased circulating IgA level, Im... |
OMIM:308230 |
| Weaver Syndrome |
|
Cryptorchidism, Patent ductus arteriosus, Hydrocele testis, Lateral ventricle dilatation, Long ph... |
OMIM:277590 |
| Glycogen Storage Disease Ii |
|
Wolff-Parkinson-White syndrome, Right axis deviation, Subarachnoid hemorrhage, Cardiomegaly, Sple... |
OMIM:232300 |
| Jansen-De Vries Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Bicuspid aortic valve, Parietal foramina, Sm... |
OMIM:617450 |
| Mucopolysaccharidosis, Type Vi |
|
Delayed eruption of teeth, Tricuspid regurgitation, Carious teeth, Splenomegaly, Hydrocephalus, C... |
OMIM:253200 |
| Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome |
|
Mandibular prognathia, Retinal detachment, Rieger anomaly, Tented upper lip vermilion, Abnormalit... |
ORPHA:521445 |
| Acrocardiofacial Syndrome |
|
Death in infancy, Hypoplasia of penis, Hypospadias, Mitral stenosis, Ventricular septal defect, C... |
ORPHA:2008 |
| Cockayne Syndrome |
|
Urinary incontinence, Retinal arteriolar constriction, Retinal degeneration, Retinal atrophy, Abn... |
ORPHA:191 |
| Ohdo Syndrome, X-Linked |
|
Small scrotum, Hiatus hernia, Shawl scrotum, Cryptorchidism, Micrognathia, Short thumb, Thin verm... |
OMIM:300895 |
| Diamond-Blackfan Anemia 1 |
|
11 pairs of ribs, Ventricular septal defect, Tricuspid stenosis, Cleft upper lip, Parietal forami... |
OMIM:105650 |
| Icf Syndrome |
|
Communicating hydrocephalus, Abnormality of neutrophils, Malabsorption, Protruding tongue, Macrog... |
ORPHA:2268 |
| Specc1L-Related Hypertelorism Syndrome |
|
Atrial septal defect, Ventricular septal defect, Ectopic kidney, Cryptorchidism, Patent ductus ar... |
ORPHA:1519 |
| Floating-Harbor Syndrome |
|
Hypoplasia of the maxilla, Renal cyst, Nephrocalcinosis, Oligodontia, Short philtrum, Atrial sept... |
ORPHA:2044 |
| Noonan Syndrome 2 |
|
Abnormal coronary artery origin, Ventricular septal defect, Micrognathia, Cryptorchidism, Patent ... |
OMIM:605275 |
| Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hypomagnesemia, Hyperactivity, Hypokalemia, Self-biting |
OMIM:618314 |
| Filippi Syndrome |
|
Frontal bossing, Ventricular septal defect, Supernumerary nipple, Cryptorchidism, Optic atrophy, ... |
ORPHA:3255 |
| Bor Syndrome |
|
Branchial cyst, Renal insufficiency, Multicystic kidney dysplasia, Facial palsy, Renal hypoplasia... |
ORPHA:107 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Abnormal bleeding, Death in infancy, Ventricular septal defect, Micrognathia, Nephrocalcinosis, R... |
OMIM:208085 |
| Weill-Marchesani Syndrome 2 |
|
Short metacarpal, Ventricular septal defect, Hypoplasia of the maxilla, Congestive heart failure,... |
OMIM:608328 |
| Arima Syndrome |
|
Dilated fourth ventricle, Retinal dystrophy, Ataxia, Esophageal varix, Optic atrophy, Wide mouth,... |
OMIM:243910 |
| 2P15P16.1 Microdeletion Syndrome |
|
Ventriculomegaly, Multicystic kidney dysplasia, Optic nerve hypoplasia, Facial palsy, Supernumera... |
ORPHA:261349 |
| Townes-Brocks Syndrome |
|
Bifid scrotum, Hypoplasia of penis, Ectopic kidney, Anteriorly placed anus, Abnormality of the ut... |
ORPHA:857 |
| Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Microphthalmia, Dilated cardiomyopathy, Reduced systolic function |
OMIM:618805 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
11 pairs of ribs, Ventricular septal defect, Micrognathia, Precocious puberty, Cryptorchidism, Br... |
OMIM:620073 |
| Multiple Endocrine Neoplasia Type 1 |
|
Angiofibromas, Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancrea... |
ORPHA:652 |
| Beta-Thalassemia Intermedia |
|
Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate production, Splenom... |
ORPHA:231222 |
| Carey-Fineman-Ziter Syndrome |
|
Aplasia/Hypoplasia of the tongue, Facial palsy, Micrognathia, Pierre-Robin sequence, Glandular hy... |
ORPHA:1358 |
| Ciliary Dyskinesia, Primary, 17 |
|
Situs inversus totalis, Chronic sinusitis, Dextrocardia |
OMIM:614679 |
| Larsen Syndrome |
|
Frontal bossing, Short metacarpal, Ventricular septal defect, Cleft upper lip, Spinal cord compre... |
OMIM:150250 |
| Hereditary Mixed Polyposis Syndrome |
|
Endometrial carcinoma, Juvenile colonic polyposis, Desmoid tumors, Thyroid carcinoma, Prostate ca... |
ORPHA:157794 |
| Monosomy 9P |
|
Hypospadias, Trigonocephaly, Abnormality of the dentition, Micrognathia, Cryptorchidism, Brachyce... |
ORPHA:261112 |
| Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Atrial septal defect, Patent foramen ovale, Ventricular septal defect |
OMIM:617044 |
| Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum |
|
Frontal bossing, Urinary incontinence, Micrognathia, Optic atrophy, Plagiocephaly, Retractile tes... |
OMIM:617193 |
| Duplication Of Urethra |
|
Bifid scrotum, Urethral stricture, Anuria, Urinary incontinence, Rectourethral fistula, Epispadia... |
ORPHA:237 |
| Thanatophoric Dysplasia, Type Ii |
|
Frontal bossing, Cloverleaf skull, Small abnormally formed scapulae, Micromelia, Short ribs, Neon... |
OMIM:187601 |
| Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Microphthalmia, Optic nerve hypoplasia, Narrow mouth |
OMIM:614833 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Atrial septal defect, Bicuspid aortic valve, Cardiomegaly, Hydrocephalus, Cleft palate, Mitral va... |
OMIM:245600 |
| Oculodentodigital Dysplasia |
|
Atrial septal defect, Neurogenic bladder, Selective tooth agenesis, Cleft upper lip, Carious teet... |
OMIM:164200 |
| Aymé-Gripp Syndrome |
|
Thin upper lip vermilion, Pericarditis, Pericardial effusion, Cryptorchidism, Hydrocephalus, Pate... |
ORPHA:1272 |
| Meier-Gorlin Syndrome 7 |
|
Urethral stricture, Heart block, Anteriorly placed anus, Copper beaten skull, High palate, Atrial... |
OMIM:617063 |
| Neurofibromatosis Type 1 |
|
Astrocytoma, Cryptorchidism, Chronic myelogenous leukemia, Multiple lipomas, Neoplasm, Pheochromo... |
ORPHA:636 |
| Basilicata-Akhtar Syndrome |
|
Smooth philtrum, Short palm, Tented upper lip vermilion, Precocious puberty, Downturned corners o... |
OMIM:301032 |
| Fanconi Anemia, Complementation Group A |
|
Duplicated collecting system, Hypergonadotropic hypogonadism, Renal agenesis, Ectopic kidney, Abs... |
OMIM:227650 |
| Lethal Congenital Contracture Syndrome 2 |
|
Ventricular septal defect, Micrognathia, Dilated cardiomyopathy, Degenerative vitreoretinopathy, ... |
OMIM:607598 |
| Orofaciodigital Syndrome Type 6 |
|
Ataxia, Hamartoma of tongue, Bilateral cryptorchidism, Abnormality of neuronal migration, Midline... |
ORPHA:2754 |
| Cerebrocostomandibular Syndrome |
|
Ectopic kidney, Micrognathia, Renal cyst, Anteriorly placed anus, Glossoptosis, High palate, Atri... |
OMIM:117650 |
| Brachytelephalangic Chondrodysplasia Punctata |
|
Short distal phalanx of toe, Optic disc hypoplasia, Optic nerve hypoplasia, Ventricular septal de... |
ORPHA:79345 |
| Pontocerebellar Hypoplasia, Type 16 |
|
Recurrent urinary tract infections, Optic atrophy, Ventriculomegaly |
OMIM:619527 |
| Brain-Lung-Thyroid Syndrome |
|
Thyroid dysgenesis, Hypoparathyroidism, Thyroid hemiagenesis, Ventricular septal defect, Ataxia, ... |
ORPHA:209905 |
| Microcephaly 26, Primary, Autosomal Dominant |
|
Protruding tongue, Dysplastic corpus callosum, Simplified gyral pattern, Gingival overgrowth, Ext... |
OMIM:619179 |
| Cdags Syndrome |
|
Frontal bossing, Hypospadias, Sagittal craniosynostosis, Rectourethral fistula, Parietal foramina... |
OMIM:603116 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Frontal bossing, Midface retrusion, Renal neoplasm, Craniosynostosis, Micrognathia, Carious teeth... |
ORPHA:536467 |
| Achondroplasia |
|
Frontal bossing, Rhizomelia, Short proximal phalanx of finger, Hydrocephalus, Short middle phalan... |
ORPHA:15 |
| Congenital Disorder Of Glycosylation, Type Iim |
|
Exaggerated cupid's bow, Hypertension, Lateral ventricle dilatation, Fused teeth, High palate, Sh... |
OMIM:300896 |
| Joubert Syndrome 23 |
|
Coloboma |
OMIM:616490 |
| Urofacial Syndrome 1 |
|
Recurrent urinary tract infections, Hydroureter, Urethral valve, Cryptorchidism, Urethral obstruc... |
OMIM:236730 |
| Fanconi Anemia, Complementation Group E |
|
Duplicated collecting system, Hypergonadotropic hypogonadism, Renal agenesis, Ectopic kidney, Abs... |
OMIM:600901 |
| Frank-Ter Haar Syndrome |
|
Thin upper lip vermilion, Flat occiput, Ventricular septal defect, Abnormally large globe, Secund... |
OMIM:249420 |
| Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Splenomegaly, Abnormality of neuronal migration |
ORPHA:2204 |
| Structural Heart Defects And Renal Anomalies Syndrome |
|
Death in infancy, Renal insufficiency, Ventricular septal defect, Partial anomalous pulmonary ven... |
OMIM:617478 |
| Hyperparathyroidism, Transient Neonatal |
|
Communicating hydrocephalus, Frontal bossing, Hyperparathyroidism, Short femur, Unilateral renal ... |
OMIM:618188 |
| Weill-Marchesani Syndrome 1 |
|
Ventricular septal defect, Hypoplasia of the maxilla, Broad skull, Patent ductus arteriosus, Micr... |
OMIM:277600 |
| Doors Syndrome |
|
Adrenal hyperplasia, Short lingual frenulum, Brachycephaly, Downturned corners of mouth, Nephroca... |
ORPHA:79500 |
| Poland Syndrome |
|
Unilateral oligodactyly, Short ribs, Dextrocardia |
OMIM:173800 |
| Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Thin upper lip vermilion, Atrial flutter, Overriding aorta, Ventricular septal defect, Patent duc... |
OMIM:601927 |
| Dubowitz Syndrome |
|
Delayed eruption of teeth, Hypospadias, Micrognathia, Carious teeth, Cryptorchidism, Velopharynge... |
OMIM:223370 |
| Hydrocephalus, Congenital, 5, Susceptibility To |
|
Aqueductal stenosis, Noncommunicating hydrocephalus |
OMIM:620241 |
| Periventricular Nodular Heterotopia |
|
Aortic regurgitation, Abnormal bleeding, Abnormal heart valve morphology, Periventricular heterot... |
ORPHA:98892 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Squamous cell carcinoma |
ORPHA:79404 |
| Fanconi Anemia, Complementation Group G |
|
Microphthalmia |
OMIM:614082 |
| Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Telangiectasia of the skin, Decreased response to growth hormone stimulation test, Narrow mouth, ... |
OMIM:616007 |
| Ciliary Dyskinesia, Primary, 30 |
|
Situs inversus totalis, Chronic sinusitis, Ventricular septal defect, Dextrocardia |
OMIM:616037 |
| Williams Syndrome |
|
Hypoplasia of penis, Bicuspid aortic valve, Myocardial infarction, Abnormal cerebral vascular mor... |
ORPHA:904 |
| Poland Syndrome |
|
Encephalocele, Duplicated collecting system, Aplasia/Hypoplasia of the thumb, Hypospadias, Dextro... |
ORPHA:2911 |
| Non-Syndromic Posterior Hypospadias |
|
Bifid scrotum, Esophageal atresia, Cryptorchidism, Ventral shortening of foreskin, Cleft palate, ... |
ORPHA:95706 |
| Mucopolysaccharidosis, Type Vii |
|
Abnormal heart valve morphology, Splenomegaly, Hydrocephalus, Gingival overgrowth, Macroglossia, ... |
OMIM:253220 |
| Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Frontal polymicrogyria, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Coro... |
OMIM:620024 |
| Neuromuscular Oculoauditory Syndrome |
|
Periventricular heterotopia, Decreased nerve conduction velocity, Chorioretinal lacunae, Retinal ... |
OMIM:618733 |
| Marshall-Smith Syndrome |
|
Craniosynostosis, Protruding tongue, Optic atrophy, Gingival overgrowth, Open mouth, Retrognathia... |
ORPHA:561 |
| Degcags Syndrome |
|
Micrognathia, Bilateral renal hypoplasia, High palate, Atrial septal defect, Patent foramen ovale... |
OMIM:619488 |
| Congenital Disorder Of Glycosylation, Type It |
|
Tachycardia, Ventricular septal defect, Sudden cardiac death, Cardiomegaly, Micrognathia, Dilated... |
OMIM:614921 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Mandibular prognathia, Bicuspid aortic valve, Micrognathia, Brachycephaly, Widely spaced teeth, H... |
OMIM:612474 |
| Maternal Phenylketonuria |
|
Ventricular septal defect, Micrognathia, Esophageal atresia, Abnormal renal morphology, Coarctati... |
ORPHA:2209 |
| Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Ventricular septal defect, Sinus bradycardia |
OMIM:126320 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Persistent fetal circulation, Papilledema, Ventricular septal defect, Pericardial effusion, Brady... |
OMIM:618775 |
| Transaldolase Deficiency |
|
Ventricular septal defect, Deep philtrum, Patent ductus arteriosus, Telangiectasia, Wide mouth, C... |
OMIM:606003 |
| Beck-Fahrner Syndrome |
|
Ventricular septal defect, Cardiomegaly, Extra-axial cerebrospinal fluid accumulation, High palat... |
OMIM:618798 |
| De Barsy Syndrome |
|
Delayed eruption of teeth, Ventricular septal defect, Cryptorchidism, Narrow mouth, Patent ductus... |
ORPHA:2962 |
| Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Communicating hydrocephalus, Mandibular prognathia, Septo-optic dysplasia, Short fourth metatarsa... |
OMIM:619841 |
| 3-Hydroxyisobutyric Aciduria |
|
Abnormality of neuronal migration |
OMIM:236795 |
| Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Atrial septal defect, Ventricular septal defect, Micrognathia, Esophageal atresia, Deep philtrum,... |
OMIM:610536 |
| Autoimmune Lymphoproliferative Syndrome |
|
Increased circulating IgA level, Increased circulating IgG level, Increased circulating IgM level... |
OMIM:601859 |
| X-Linked Intellectual Disability, Nascimento Type |
|
Hypospadias, Mitral stenosis, Ventricular septal defect, Cryptorchidism, Deep philtrum, Patent du... |
ORPHA:163956 |
| Culler-Jones Syndrome |
|
Ectopic posterior pituitary, Anterior pituitary hypoplasia, Cleft upper lip, Cryptorchidism, Clef... |
OMIM:615849 |
| Mosaic Variegated Aneuploidy Syndrome 2 |
|
Aortic regurgitation, Frontal bossing, Ventricular septal defect, Decreased response to growth ho... |
OMIM:614114 |
| Noonan Syndrome 9 |
|
Hydroureter, Ventricular septal defect, Cryptorchidism, Coarctation of aorta, Prolonged prothromb... |
OMIM:616559 |
| Anterior Segment Dysgenesis 2 |
|
Coloboma, Anterior segment of eye aplasia, Aniridia, Microphthalmia, Congenital aphakia |
OMIM:610256 |
| Total Anomalous Pulmonary Venous Return 1 |
|
Pulmonary arterial hypertension, Dextrocardia, Total anomalous pulmonary venous return |
OMIM:106700 |
| Fowler Urethral Sphincter Dysfunction Syndrome |
|
Dysuria, Urinary incontinence, Abnormality of the urethra, Polycystic ovaries, Menorrhagia, Urina... |
ORPHA:2795 |
| Coccidioidomycosis |
|
Pericarditis, Abnormal retinal morphology, Eosinophilia, Abnormality of the endocrine system, CSF... |
ORPHA:228123 |
| Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Lactose intolerance, Frontal bossing, Hypospadias, Cryptorchidism, Wide mouth, Long philtrum, Ope... |
ORPHA:457485 |
| Incontinentia Pigmenti |
|
Delayed eruption of teeth, Hypoplasia of the fovea, Retinal detachment, Supernumerary nipple, Con... |
OMIM:308300 |
| Constricting Bands, Congenital |
|
Encephalocele, Cleft upper lip, Cleft palate, Ectopia cordis, Bladder exstrophy |
OMIM:217100 |
| Ciliary Dyskinesia, Primary, 38 |
|
Situs inversus totalis, Chronic sinusitis, Dextrocardia |
OMIM:618063 |
| Noonan Syndrome 4 |
|
Abnormal bleeding, Ureteral duplication, Ventricular septal defect, Cryptorchidism, Dental malocc... |
OMIM:610733 |
| Aneurysm-Osteoarthritis Syndrome |
|
High palate, Abdominal aortic aneurysm, Bifid uvula, Arterial tortuosity, Patent ductus arteriosu... |
ORPHA:284984 |
| Van Esch-O'Driscoll Syndrome |
|
Hypogonadotropic hypogonadism, Ventricular septal defect, Esophageal atresia, Pulmonary artery st... |
OMIM:301030 |
| Hardikar Syndrome |
|
Atrial septal defect, Vesicoureteral reflux, Patent foramen ovale, Bladder exstrophy, Cleft soft ... |
OMIM:301068 |
| Optic Atrophy 11 |
|
Optic nerve hypoplasia, Optic atrophy, Facial diplegia, Cherry red spot of the macula, Decreased ... |
OMIM:617302 |
| Interstitial Cystitis |
|
Abnormal labia morphology, Abnormality of the urethra, Urinary bladder inflammation, Functional a... |
ORPHA:37202 |
| Achondroplasia |
|
Frontal bossing, Death in infancy, Short femur, Rhizomelia, Hydrocephalus, Short ribs, Short femo... |
OMIM:100800 |
| Roberts Syndrome |
|
Aplasia/Hypoplasia of the thumb, Craniosynostosis, Cleft upper lip, Micrognathia, Cryptorchidism,... |
ORPHA:3103 |
| Pituitary Stalk Interruption Syndrome |
|
Septo-optic dysplasia, Ectopic posterior pituitary, Adrenal hypoplasia, Cryptorchidism, Hypothyro... |
ORPHA:95496 |
| Malan Syndrome |
|
Mandibular prognathia, Hyperplasia of the premaxilla, Gingival overgrowth, Everted lower lip verm... |
OMIM:614753 |
| Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Laryngeal carcinoma, Decreased testicular size, Carcinoma |
OMIM:610644 |
| Chops Syndrome |
|
Ventricular septal defect, High, narrow palate, Cryptorchidism, Patent ductus arteriosus, Optic a... |
OMIM:616368 |
| 46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome |
|
Abnormal internal genitalia, Multicystic kidney dysplasia, Hydroureter, Intestinal malrotation, R... |
ORPHA:2973 |
| Proximal Renal Tubular Acidosis |
|
Hyperphosphaturia, Malabsorption, Enamel hypomineralization, Hypovolemia, Bicarbonaturia, Bicarbo... |
ORPHA:47159 |
| Macrocephaly, Benign Familial |
|
Frontal bossing, Biparietal narrowing, Dolichocephaly, Ventriculomegaly, Long philtrum |
OMIM:153470 |
| Myoclonic-Astatic Epilepsy |
|
Thin upper lip vermilion, Thick lower lip vermilion, Wide mouth, Long philtrum, Microphthalmia, B... |
ORPHA:1942 |
| Oculo-Palato-Cerebral Syndrome |
|
Retinal detachment, Remnants of the hyaloid vascular system, High, narrow palate, Small hand, Cle... |
ORPHA:2714 |
| Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome |
|
Neurogenic bladder, Partial agenesis of the corpus callosum, Optic atrophy, Increased CSF lactate... |
ORPHA:500144 |
| Coffin-Siris Syndrome 1 |
|
Conical tooth, Ectopic kidney, Brachycephaly, Short philtrum, High palate, Microdontia, Atrial se... |
OMIM:135900 |
| Developmental And Epileptic Encephalopathy 64 |
|
Thin upper lip vermilion, Ventriculomegaly, Dolichocephaly, Micrognathia, Thick lower lip vermili... |
OMIM:618004 |
| Alg9-Cdg |
|
Villous atrophy, Micrognathia, Brachycephaly, Right ventricular dilatation, Abnormal left ventric... |
ORPHA:79328 |
| Noonan Syndrome 8 |
|
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Mitral regurgitation, Pulmon... |
OMIM:615355 |
| Bartsocas-Papas Syndrome 1 |
|
Ectopic kidney, Bilateral cryptorchidism, Hypoplasia of the maxilla, Micrognathia, Micropenis, Pa... |
OMIM:263650 |
| Dpagt1-Cdg |
|
Prolonged QT interval, Ataxia, Akinesia, Inability to walk, Optic atrophy, Stroke-like episode, I... |
ORPHA:86309 |
| Noonan Syndrome 3 |
|
Frontal bossing, Atrial septal defect, Ventricular septal defect, Sagittal craniosynostosis, Cryp... |
OMIM:609942 |
| Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Frontal bossing, Abnormal dental morphology, Abnormal dental enamel morphology, Hypospadias, Micr... |
ORPHA:85199 |
| Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Ventricular septal defect, Biventricular hypertrophy, Hypertension, Second degree atrioventricula... |
OMIM:615474 |
| Cerebellar-Facial-Dental Syndrome |
|
Ventricular septal defect, Micrognathia, Cryptorchidism, Dental malocclusion, Alveolar ridge over... |
ORPHA:444072 |
| Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Increased circulating IgE level, Lack of T cell function |
ORPHA:277 |
| Shprintzen-Goldberg Syndrome |
|
Communicating hydrocephalus, Frontal bossing, Craniosynostosis, Micrognathia, Hypoplasia of the m... |
ORPHA:2462 |
| Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Abnormal coronary artery course, Cardiom... |
ORPHA:3427 |
| Diamond-Blackfan Anemia 7 |
|
Ventricular septal defect, Secundum atrial septal defect, Short thumb, Patent ductus arteriosus, ... |
OMIM:612562 |
| Coffin-Siris Syndrome 4 |
|
Thin upper lip vermilion, Everted upper lip vermilion, Atrial septal defect, Ventricular septal d... |
OMIM:614609 |
| Mosaic Trisomy 20 |
|
Ventricular septal defect, Abnormality of the kidney, Micrognathia, Cleft lip, Abnormal spinal co... |
ORPHA:1724 |
| Phocomelia, Schinzel Type |
|
Hypoplasia of penis, Micromelia, Micrognathia, Aplasia of the ulna, High, narrow palate, Cryptorc... |
ORPHA:2879 |
| Brachydactyly, Type B1 |
|
Hypoplastic sacrum, Ventricular septal defect, Aplasia/Hypoplasia of the distal phalanges of the ... |
OMIM:113000 |
| Fumarase Deficiency |
|
Frontal bossing, Necrotizing enterocolitis, Bilateral fetal pyelectasis, Increased urine succinat... |
OMIM:606812 |
| Ciliary Dyskinesia, Primary, 7 |
|
Situs inversus totalis, Dextrocardia |
OMIM:611884 |
| Distal 22Q11.2 Microdeletion Syndrome |
|
Aortic regurgitation, Thin upper lip vermilion, Branchial fistula, Recurrent urinary tract infect... |
ORPHA:261330 |
| Faciocardiorenal Syndrome |
|
Cleft palate, Endocardial fibroelastosis, Hypodontia, Tricuspid valve prolapse, Narrow mouth, Smo... |
ORPHA:1973 |
| Zttk Syndrome |
|
Hypoplasia of the maxilla, Downturned corners of mouth, High palate, Short philtrum, Atrial septa... |
OMIM:617140 |
| Leopard Syndrome 1 |
|
Mandibular prognathia, Bundle branch block, Hypospadias, Unilateral renal agenesis, Missing ribs,... |
OMIM:151100 |
| Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Persistence of hemoglobin F, Self-injurious behavior, Recurrent hand flapping |
OMIM:617101 |
| Norrie Disease |
|
Retinal detachment, Optic atrophy, Hypoplasia of the iris, Buphthalmos, Retinal dysplasia, Microp... |
OMIM:310600 |
| X-Linked Intellectual Disability, Armfield Type |
|
Mandibular prognathia, Micrognathia, Cryptorchidism, Patent ductus arteriosus, Small hand, Brachy... |
ORPHA:85276 |
| Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Atrial septal defect, Left-to-right shunt, Ventricular septal defect, Congestive heart failure, P... |
ORPHA:99050 |
| Heart Defects, Congenital, And Other Congenital Anomalies |
|
Ureteral duplication, Atrial septal defect, Pancreatic hypoplasia, Hypoplastic tricuspid valve, P... |
OMIM:600001 |
| Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Smooth philtrum, Renal dysplasia, Ventriculomegaly, Abnormal cortical gyration, Abnormality of th... |
OMIM:300968 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Atrial septal defect, Patent ductus arteriosus, Pierre-Robin sequence, Gingival overgrowth, Downt... |
OMIM:300868 |
| Fanconi Anemia, Complementation Group C |
|
Duplicated collecting system, Ventricular septal defect, Hypergonadotropic hypogonadism, Renal ag... |
OMIM:227645 |
| 46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency |
|
Hypogonadotropic hypogonadism, Abnormality of the urethra, Cryptorchidism, Male pseudohermaphrodi... |
ORPHA:752 |
| Ritscher-Schinzel Syndrome 2 |
|
Ventricular septal defect, Intestinal malrotation, Protruding tongue, Cryptorchidism, Patent duct... |
OMIM:300963 |
| Trichorhinophalangeal Syndrome Type 2 |
|
Thin upper lip vermilion, Ventriculomegaly, Recurrent urinary tract infections, Abnormality of th... |
ORPHA:502 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Hyperactivity, Autoimmune hemolytic anemia, Hypouricemia, Autoimmune thrombocytopenia, Abnormal T... |
ORPHA:760 |
| Down Syndrome |
|
Aganglionic megacolon, Ventricular septal defect, Protruding tongue, Short middle phalanx of the ... |
OMIM:190685 |
| Prominent Glabella-Microcephaly-Hypogenitalism Syndrome |
|
Hypoplasia of penis, Small scrotum, Micrognathia, Cryptorchidism, Dolichocephaly, Hydronephrosis,... |
ORPHA:2083 |
| Fanconi Anemia, Complementation Group J |
|
Microphthalmia, Short thumb |
OMIM:609054 |
| Sim1-Related Prader-Willi-Like Syndrome |
|
Thin upper lip vermilion, Small scrotum, Hypogonadotropic hypogonadism, External genital hypoplas... |
ORPHA:398079 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Dilated fourth ventricle, Thin upper lip vermilion, Accessory spleen, Exaggerated cupid's bow, Op... |
OMIM:619306 |
| Posterior Urethral Valve |
|
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye... |
ORPHA:93110 |
| Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Hypoplasia of penis, Flat occiput, Renal insufficiency, Protruding tongue, Cryptorchidism, Brachy... |
ORPHA:96147 |
| Ciliary Dyskinesia, Primary, 25 |
|
Situs inversus totalis, Dextrocardia, Recurrent sinusitis |
OMIM:615482 |
| Houge-Janssens Syndrome 3 |
|
Frontal bossing, Plagiocephaly, High palate, Short philtrum, Umbilical hernia, Ventriculomegaly |
OMIM:618354 |
| Developmental And Epileptic Encephalopathy 65 |
|
Plagiocephaly, Tented upper lip vermilion, Ventriculomegaly |
OMIM:618008 |
| Monosomy 13Q14 |
|
Aplasia/Hypoplasia of the thumb, Micrognathia, Holoprosencephaly, Trigonocephaly, Microphthalmia,... |
ORPHA:1587 |
| Lymphangioleiomyomatosis |
|
Gastrointestinal hemorrhage, Retinal hamartoma, Hydrocephalus, Optic atrophy, Chylopericardium, L... |
ORPHA:538 |
| Ochoa Syndrome |
|
Recurrent urinary tract infections, Renal insufficiency, Urinary incontinence, Cryptorchidism, Ur... |
ORPHA:2704 |
| Phelan-Mcdermid Syndrome |
|
Ventricular septal defect, Abnormality of the kidney, Dolichocephaly, Micrognathia, Patent ductus... |
OMIM:606232 |
| Lethal Congenital Contracture Syndrome 10 |
|
Overriding aorta, Ventricular septal defect, Cardiomegaly, Micrognathia, Narrow palate, Macroglos... |
OMIM:617022 |
| Restrictive Dermopathy |
|
Natal tooth, Atrial septal defect, Ureteral duplication, Hypospadias, Dextrocardia, Aplasia/Hypop... |
ORPHA:1662 |
| Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities |
|
Thin upper lip vermilion, Perisylvian polymicrogyria, Downturned corners of mouth, Facial diplegi... |
OMIM:619121 |
| Hypomelanosis Of Ito |
|
Gray matter heterotopia, Thick lower lip vermilion, Irregularly spaced teeth |
OMIM:300337 |
| Persistent Hyperplastic Primary Vitreous |
|
Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant... |
ORPHA:91495 |
| Koolen-De Vries Syndrome |
|
Ureteral duplication, Hypospadias, Abnormal dental enamel morphology, Abnormality of the dentitio... |
ORPHA:96169 |
| Cryptococcosis |
|
Abnormal retinal morphology, Hydrocephalus, Vitritis, Abnormal optic nerve morphology, Prostatiti... |
ORPHA:1546 |
| Distal Deletion 19P |
|
Vaginal hernia, Ventricular septal defect, Hypoplasia of the maxilla, Cleft palate, Short philtru... |
ORPHA:96129 |
| Ciliary Dyskinesia, Primary, 20 |
|
Atrial situs inversus, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Pulmonary... |
OMIM:615067 |
| Chromosome 17Q12 Deletion Syndrome |
|
Mandibular prognathia, Micrognathia, Renal cyst, High palate, Short palm, Multicystic kidney dysp... |
OMIM:614527 |
| 19Q13.11 Microdeletion Syndrome |
|
Bifid scrotum, Hypospadias, Ventricular septal defect, Supernumerary nipple, Cryptorchidism, Wide... |
ORPHA:217346 |
| Alg12-Cdg |
|
Retinal detachment, Thin upper lip vermilion, Hypospadias, Intestinal malrotation, Micrognathia, ... |
ORPHA:79324 |
| Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Crowded maxillary incisors, Cryptorchidism, Abnormality of neuronal migration, Narrow palate, Abn... |
ORPHA:2063 |
| Autosomal Dominant Coarctation Of Aorta |
|
Hypoplastic left heart, Ventricular septal defect |
ORPHA:1455 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Mandibular prognathia, Frontal bossing, Hypospadias, Anterior pituitary hypoplasia, Abnormality o... |
OMIM:151050 |
| Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Rod-cone dystrophy, Optic atrophy, Ventriculomegaly, Long philtrum |
OMIM:617710 |
| Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Lower limb dysmetria, Ventricular septal defect, Hydrocephalus, Schwannoma, Abnormal heart morpho... |
ORPHA:363700 |
| Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Communicating hydrocephalus, Spontaneous hemolytic crises, Ataxia, Decreased thalamic volume, Hep... |
ORPHA:168577 |
| Oculopalatocerebral Syndrome |
|
Microphthalmia, Remnants of the hyaloid vascular system, Cleft palate |
OMIM:257910 |
| Okamoto Syndrome |
|
Tented upper lip vermilion, Urinary incontinence, Abnormally large globe, Primum atrial septal de... |
ORPHA:2729 |
| Hypoglossia-Hypodactyly Syndrome |
|
Death in infancy, Jejunal atresia, Aplasia/Hypoplasia of the tongue, Micrognathia, Adactyly, Apla... |
ORPHA:989 |
| Tatton-Brown-Rahman Syndrome |
|
Mandibular prognathia, Cryptorchidism, Deep philtrum, Patent ductus arteriosus, Short toe, Widely... |
ORPHA:404443 |
| Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Ventricular septal defect, Supernumerary nipple, Cryptorchidism, Patent ductus arteriosus, Short ... |
ORPHA:2519 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Squamous cell carcinoma of the skin, Myelodysplasia |
OMIM:127550 |
| Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy |
|
High palate, Simplified gyral pattern, Ventriculomegaly |
OMIM:615760 |
| Pseudoaminopterin Syndrome |
|
Frontal bossing, Sagittal craniosynostosis, Micrognathia, Cryptorchidism, Hydrocephalus, Short th... |
ORPHA:221120 |
| Wiedemann-Rautenstrauch Syndrome |
|
Optic disc hypoplasia, Decreased response to growth hormone stimulation test, Congenital malforma... |
ORPHA:3455 |
| Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Situs inversus totalis, Dextrocardia |
OMIM:618948 |
| Wolf-Hirschhorn Syndrome |
|
Accessory spleen, Tethered cord, Ventricular septal defect, Cleft upper lip, Precocious puberty, ... |
OMIM:194190 |
| Congenital Disorder Of Glycosylation, Type Iia |
|
Mandibular prognathia, Macrodontia, Ventricular septal defect, Protruding tongue, Diastema, Gingi... |
OMIM:212066 |
| Alpha-Mannosidosis, Infantile Form |
|
Communicating hydrocephalus, Optic disc pallor, Recurrent urinary tract infections, Mandibular pr... |
ORPHA:309282 |
| Hereditary Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:621 |
| Hypoplasminogenemia |
|
Cervicitis, Duodenal ulcer, Hydrocephalus, Gingival overgrowth, Gingivitis, Nephrolithiasis, Peri... |
ORPHA:722 |
| Omodysplasia 1 |
|
Frontal bossing, Short humerus, Ventricular septal defect, Rhizomelia, Micrognathia, Cryptorchidi... |
OMIM:258315 |
| Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1 |
|
Myelopathy, Increased CSF lactate, Cervical myelopathy, Death in childhood, Ventriculomegaly |
OMIM:617186 |
| Leigh Syndrome |
|
Ventricular septal defect, Ataxia, Congestive heart failure, Optic atrophy, Abnormal thalamic MRI... |
ORPHA:506 |
| Schinzel-Giedion Syndrome |
|
Micrognathia, Abnormality of the gingiva, Renal cyst, Anteriorly placed anus, Short philtrum, Hig... |
ORPHA:798 |
| Gm1-Gangliosidosis, Type Ii |
|
Protruding tongue, Patent ductus arteriosus, Optic atrophy, Gingival overgrowth, Hypoplastic vert... |
OMIM:230600 |
| Coffin-Siris Syndrome |
|
Delayed eruption of teeth, Thin upper lip vermilion, Ventricular septal defect, Cryptorchidism, P... |
ORPHA:1465 |
| Cardiofacioneurodevelopmental Syndrome |
|
Ventricular septal defect, Cleft lip, Cleft palate, Pulmonic stenosis, Atrioventricular canal defect |
OMIM:619123 |
| Pontocerebellar Hypoplasia, Type 17 |
|
Secundum atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Microretrogna... |
OMIM:619909 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Bifid scrotum, Mandibular prognathia, Dental crowding, Bicuspid aortic valve, Urinary incontinenc... |
ORPHA:261552 |
| Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Dental crowding, Anterior pituitary hypoplasia, Bilateral cryptorchidism, High, narrow palate, Wi... |
ORPHA:466791 |
| X-Linked Dominant Chondrodysplasia Punctata |
|
Frontal bossing, Hypoplastic cervical vertebrae, High palate, Microphthalmia, Hydronephrosis |
ORPHA:35173 |
| Bilateral Perisylvian Polymicrogyria |
|
Ectopic posterior pituitary, Protruding tongue, Perisylvian predominant thick cortex pachygyria, ... |
ORPHA:98889 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Ventriculomegaly, Tented upper lip vermilion, Abnormal cortical gyration, Micrognathia, Optic atr... |
OMIM:617527 |
| Xq12-Q13.3 Duplication Syndrome |
|
Optic disc pallor, Everted lower lip vermilion, Ventriculomegaly, Cryptorchidism |
ORPHA:314389 |
| Intellectual Developmental Disorder, Autosomal Dominant 47 |
|
Wide mouth, Ventricular septal defect, Widely-spaced incisors |
OMIM:617635 |
| Ring Chromosome 7 Syndrome |
|
Mandibular prognathia, Hypospadias, Small hand, Brachycephaly, Cleft palate, Hydrocele testis, Pl... |
ORPHA:1449 |
| Orofaciodigital Syndrome Type 2 |
|
Micrognathia, Central retinal vessel vascular tortuosity, High palate, Short tibia, Atrioventricu... |
ORPHA:2751 |
| Mowat-Wilson Syndrome |
|
Bifid scrotum, Mandibular prognathia, Dental crowding, Bicuspid aortic valve, Urinary incontinenc... |
ORPHA:2152 |
| Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Remnants of the hyaloid vascular system, Phthisis bulbi, Hyphema, Retinal nonattachment, Buphthal... |
OMIM:221900 |
| Costello Syndrome |
|
Ventricular septal defect, Abnormal dental enamel morphology, Abnormality of the dentition, Crypt... |
ORPHA:3071 |
| Laurin-Sandrow Syndrome |
|
Downturned corners of mouth, Cryptorchidism, Hydrocephalus |
ORPHA:2378 |
| Codas Syndrome |
|
Delayed eruption of teeth, Short metacarpal, Hydroureter, Ventricular septal defect, Abnormal den... |
ORPHA:1458 |
| Genitopatellar Syndrome |
|
Delayed eruption of teeth, Anal stenosis, Ventricular septal defect, Periventricular heterotopia,... |
OMIM:606170 |
| Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy |
|
Neurogenic bladder, Optic atrophy, Abnormal autonomic nervous system physiology, Ventriculomegaly |
ORPHA:466934 |
| Linear Nevus Sebaceus Syndrome |
|
Frontal bossing, Prominent occiput, Plagiocephaly, Adenoma sebaceum, Biparietal narrowing, Microp... |
ORPHA:2612 |
| Diamond-Blackfan Anemia 10 |
|
Ventricular septal defect, Ectopic kidney, Micrognathia, Patent ductus arteriosus, Cleft palate, ... |
OMIM:613309 |
| Ciliary Dyskinesia, Primary, 2 |
|
Situs inversus totalis, Sinusitis, Dextrocardia |
OMIM:606763 |
| Plaa-Associated Neurodevelopmental Disorder |
|
Ventriculomegaly, Tented upper lip vermilion, Abnormal cortical gyration, Micrognathia, Optic atr... |
ORPHA:521426 |
| Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Broad-based gait, Ventricular septal defect, Decreased response to growth hormone stimulation tes... |
OMIM:610978 |
| Distal Deletion 3P |
|
Micrognathia, Cryptorchidism, Brachycephaly, Cleft palate, Downturned corners of mouth, Thin verm... |
ORPHA:1620 |
| Carey-Fineman-Ziter Syndrome 1 |
|
Facial palsy, Micrognathia, Cryptorchidism, Trismus, Pierre-Robin sequence, Cleft palate, Plagioc... |
OMIM:254940 |
| Ciliary Dyskinesia, Primary, 1 |
|
Communicating hydrocephalus, Asplenia, Situs inversus totalis |
OMIM:244400 |
| Man1B1-Cdg |
|
Thin upper lip vermilion, Broad-based gait, Periventricular heterotopia, Thick vermilion border, ... |
ORPHA:397941 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Dental crowding, Bicuspid aortic valve, Cleft hard palate, Asplenia, Short philtrum, Agenesis of ... |
ORPHA:261537 |
| Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... |
ORPHA:231226 |
| Aprosencephaly And Cerebellar Dysgenesis |
|
Craniosynostosis, Micrognathia, Aprosencephaly, Retinal dysplasia, Bifid uvula |
OMIM:601374 |
| Benign Schwannoma |
|
Facial palsy, Schwannoma, Peripheral schwannoma, Scleral schwannoma, Vestibular schwannoma, Abnor... |
ORPHA:252164 |
| Glycine Encephalopathy With Normal Serum Glycine |
|
Optic atrophy, Dolichocephaly, Trigonocephaly, Retrognathia, Ventriculomegaly |
OMIM:617301 |
| Diphallia |
|
Bifid scrotum, Atrial septal defect, Ureteral duplication, Rectoperineal fistula, Hypospadias, Re... |
ORPHA:227 |
| Neuroocular Syndrome |
|
Hypoplasia of the fovea, Midface retrusion, Remnants of the hyaloid vascular system, Patent foram... |
OMIM:619539 |
| Keppen-Lubinsky Syndrome |
|
Tented upper lip vermilion, Decreased serum leptin, Gingival overgrowth, Lateral ventricle dilata... |
OMIM:614098 |
| Townes-Brocks Syndrome 1 |
|
Bifid scrotum, Short metatarsal, Holoprosencephaly, Chorioretinal coloboma, Vesicoureteral reflux... |
OMIM:107480 |
| Brain Malformations With Or Without Urinary Tract Defects |
|
Thin upper lip vermilion, Renal hypoplasia, Syringomyelia, Narrow mouth, Vesicoureteral reflux, A... |
OMIM:613735 |
| Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Short femur, Ventricular septal defect, Intestinal malrotation, Cryptorchidism, Brachycephaly, Wi... |
OMIM:617798 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
|
Mandibular prognathia, Thin upper lip vermilion, Frontal bossing, Small scrotum, Cryptorchidism, ... |
OMIM:300486 |
| Leukodystrophy, Hypomyelinating, 12 |
|
Neurogenic bladder, Optic atrophy, Abnormal autonomic nervous system physiology, Ventriculomegaly |
OMIM:616683 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Death in infancy, Intestinal obstruction, Jejunal atresia, Intestinal malrotation, Ileal atresia,... |
OMIM:243150 |
| Williams-Beuren Syndrome |
|
Bicuspid aortic valve, Rectal prolapse, Nephrocalcinosis, Microdontia, Atrial septal defect, Micr... |
OMIM:194050 |
| X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome |
|
Mandibular prognathia, Thin upper lip vermilion, Microretrognathia, Hypospadias, Ventricular sept... |
ORPHA:459070 |
| Beta-Thalassemia Major |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anemia of inad... |
ORPHA:231214 |
| D-Bifunctional Protein Deficiency |
|
Frontal bossing, Dolichocephaly, Decreased nerve conduction velocity, Micrognathia, Scaphocephaly... |
OMIM:261515 |
| Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures |
|
Turricephaly, Micrognathia, Cryptorchidism, Short thumb, Wide mouth, Plagiocephaly, High palate, ... |
OMIM:620224 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Ventricular septal defect, Macular atrophy, Splenomegaly, Lymphadenopathy, Anem... |
OMIM:619418 |
| Transketolase Deficiency |
|
Increased level of ribose in urine, Ventricular septal defect, Abnormal coronary artery course, P... |
ORPHA:488618 |
| Simpson-Golabi-Behmel Syndrome |
|
Mandibular prognathia, Bundle branch block, Hypoplasia of penis, Ureteral duplication, High, narr... |
ORPHA:373 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Death in infancy, Ventricular septal defect, Proteinuria, Nephrocalcinosis, Renal tubular acidosi... |
OMIM:613404 |
| Legius Syndrome |
|
Acute monocytic leukemia, Non-small cell lung carcinoma, Neurofibroma, Desmoid tumors, Ovarian ne... |
ORPHA:137605 |
| Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Thin upper lip vermilion, Ventriculomegaly, Tented upper lip vermilion, Hypospadias, Unilateral r... |
ORPHA:487796 |
| Xfe Progeroid Syndrome |
|
Renal insufficiency, Proteinuria, Optic atrophy, Death in adolescence, Premature loss of teeth, E... |
OMIM:610965 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Atrial septal defect, Agenesis of corpus callosum, Exaggerated median tongue furrow, Cryptorchidi... |
OMIM:312870 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Atrial septal defect, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimul... |
OMIM:602782 |
| Ogden Syndrome |
|
Bicuspid aortic valve, Cardiomegaly, Secundum atrial septal defect, Micrognathia, Deep philtrum, ... |
OMIM:300855 |
| Molybdenum Cofactor Deficiency, Complementation Group B |
|
Frontal bossing, Xanthine nephrolithiasis, Increased urinary sulfite level, Xanthinuria, Increase... |
OMIM:252160 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Delayed eruption of teeth, Ventricular septal defect, Abnormal dental enamel morphology, Conical ... |
ORPHA:1071 |
| Tbck-Related Intellectual Disability Syndrome |
|
Tented upper lip vermilion, Hyperthyroidism, Decreased response to growth hormone stimulation tes... |
ORPHA:488632 |
| Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Atrial septal defect, Hypoplastic tricuspid valve, Double outlet left ventricle, Ventricular sept... |
ORPHA:2255 |
| Fetal Akinesia Deformation Sequence 1 |
|
Micrognathia, High, narrow palate, Hydrocephalus, Cryptorchidism, Cleft palate, Stillbirth, High ... |
OMIM:208150 |
| Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Lateral ventricle dilatation |
OMIM:607485 |
| Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Thin upper lip vermilion, Atrial septal defect, Dental crowding, Ventricular septal defect, Parti... |
OMIM:301044 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Thin upper lip vermilion, Hypospadias, Craniosynostosis, Micrognathia, Cryptorchidism, Thick lowe... |
OMIM:309590 |
| Craniosynostosis And Dental Anomalies |
|
Mandibular prognathia, Flat occiput, Dental crowding, Hypoplasia of the maxilla, Brachycephaly, H... |
OMIM:614188 |
| Fraser Syndrome 2 |
|
Renal agenesis, Intestinal malrotation, Unilateral renal agenesis, Rectal atresia, Renal hypoplas... |
OMIM:617666 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Overriding aorta, Ventricular septal defect, Patent ductus arteriosus, Hematuria, Hypertension, S... |
OMIM:617021 |
| Feingold Syndrome 1 |
|
Jejunal atresia, Tricuspid stenosis, Ventricular septal defect, Micrognathia, Esophageal atresia,... |
OMIM:164280 |
| Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy, Abnormality of neuronal migration |
ORPHA:2518 |
| Renal Hypoplasia |
|
Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Urethral valve, Unilateral ... |
ORPHA:93101 |
| Sanjad-Sakati Syndrome |
|
Hypoparathyroidism, Intestinal obstruction, Hypoplasia of penis, Abnormal dental enamel morpholog... |
ORPHA:2323 |
| Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Thyroid dysgenesis, Thyroid hypoplasia, Ventricular septal defect, Micrognathia, Cryptorchidism, ... |
ORPHA:3047 |
| Absent Radius-Anogenital Anomalies Syndrome |
|
Hydrocephalus, Rectal atresia, Hypoplasia of the radius, Perineal fistula, Rectovaginal fistula, ... |
ORPHA:3016 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Large placenta, Umbilical hernia, Ventricular septal defect, Abnormal heart morphology |
ORPHA:254534 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Prolonged QT interval, Tachycardia, Ventricular septal defect, Pericardial effusion, Dilated card... |
ORPHA:26793 |
| Trichohepatoneurodevelopmental Syndrome |
|
Dental crowding, Ventricular septal defect, Short foot, Patent ductus arteriosus, Brachycephaly, ... |
OMIM:618268 |
| Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Decreased response to growth hormone stimulation test, Premature thelarche, Widely spaced teeth, ... |
ORPHA:268261 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Tented upper lip vermilion, Hypertrophy of the urinary bladder, High palate, Prominent palatine r... |
ORPHA:280633 |
| Scalp-Ear-Nipple Syndrome |
|
Congestive heart failure, Cardiac myxoma, Agenesis of permanent teeth, Hypertension, Lateral vent... |
OMIM:181270 |
| Lead Poisoning |
|
Decreased HDL cholesterol concentration, Anorexia, Imbalanced hemoglobin synthesis, Abnormal T ce... |
ORPHA:330015 |
| Trichohepatoenteric Syndrome 1 |
|
Aortic regurgitation, Frontal bossing, Villous atrophy, Hypospadias, Ventricular septal defect, N... |
OMIM:222470 |
| Arboleda-Tham Syndrome |
|
Mandibular prognathia, Bilateral cryptorchidism, Secundum atrial septal defect, Downturned corner... |
OMIM:616268 |
| Ciliary Dyskinesia, Primary, 22 |
|
Situs inversus totalis, Dextrocardia, Recurrent sinusitis |
OMIM:615444 |
| Osteootohepatoenteric Syndrome |
|
Ileoileal intussusception, Hydrocephalus, Anemia, Villous atrophy |
OMIM:619377 |
| Nance-Horan Syndrome |
|
Diastema, Mulberry molar, Supernumerary maxillary incisor, Microphthalmia, Screwdriver-shaped inc... |
OMIM:302350 |
| Alagille Syndrome 1 |
|
Duplicated collecting system, Frontal bossing, Hypoplasia of the ulna, Ventricular septal defect,... |
OMIM:118450 |
| Fragile X Syndrome |
|
Macroorchidism, postpubertal, Periventricular heterotopia, Congenital macroorchidism, Mitral valv... |
OMIM:300624 |
| Acute Transverse Myelitis |
|
Orthostatic hypotension, Subarachnoid hemorrhage, CSF pleocytosis, Paralytic ileus, Hypertension,... |
ORPHA:139417 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Decreased response to growth hormone stimulation test, Micrognathia, Downturned corners of mouth,... |
ORPHA:444077 |
| Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities |
|
Rectoperineal fistula, Ventricular septal defect, Cryptorchidism, Patent foramen ovale, Coarctati... |
OMIM:618748 |
| Renal Agenesis |
|
Renal insufficiency, Absent vas deferens, Ventricular septal defect, Renal agenesis, Proteinuria,... |
ORPHA:411709 |
| Fanconi Anemia, Complementation Group W |
|
Decreased response to growth hormone stimulation test, Absent thumb, Hypoplasia of the radius, Re... |
OMIM:617784 |
| Histidinuria-Renal Tubular Defect Syndrome |
|
Impaired histidine renal tubular absorption, Histidinuria, Short middle phalanx of finger, Long p... |
ORPHA:2158 |
| Hermansky-Pudlak Syndrome |
|
Basal cell carcinoma, Squamous cell carcinoma of the skin |
ORPHA:79430 |
| Pontocerebellar Hypoplasia, Type 2E |
|
Optic atrophy, Ventriculomegaly, Micrognathia |
OMIM:615851 |
| Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
11 pairs of ribs, Ventricular septal defect, Optic nerve hypoplasia, Aortopulmonary collateral ar... |
OMIM:620025 |
| Ciliary Dyskinesia, Primary, 43 |
|
Noncommunicating hydrocephalus |
OMIM:618699 |
| Femoral-Facial Syndrome |
|
Short fourth metatarsal, Micrognathia, Micropenis, Cryptorchidism, Absent vertebra, Pulmonic sten... |
OMIM:134780 |
| Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy |
|
Polymicrogyria, Retinal dystrophy, Agyria, Ventriculomegaly |
ORPHA:370997 |
| Eisenmenger Syndrome |
|
Ventricular tachycardia, Aortopulmonary window, Bacterial endocarditis, Supraventricular tachycar... |
ORPHA:97214 |
| Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Mandibular prognathia, Thin upper lip vermilion, Frontal bossing, Small scrotum, Ventricular sept... |
OMIM:620330 |
| Magel2-Related Prader-Willi-Like Syndrome |
|
Thin upper lip vermilion, Small scrotum, External genital hypoplasia, Precocious puberty, Cryptor... |
ORPHA:398069 |
| Bilateral Polymicrogyria |
|
4-layered lissencephaly, Micrognathia, Perisylvian polymicrogyria, Wide mouth, Facial diplegia, A... |
ORPHA:268940 |
| Noonan Syndrome 10 |
|
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Coarctation of aorta, Mitral... |
OMIM:616564 |
| Popliteal Pterygium Syndrome |
|
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cleft upper lip, Cryptorchidism, Lower li... |
OMIM:119500 |
| Knobloch Syndrome 2 |
|
Encephalocele, Retinal detachment, Vitreous floaters, Micrognathia, Pyloric stenosis, Patent duct... |
OMIM:618458 |
| Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
HbH hemoglobin, Microcytic anemia |
ORPHA:98791 |
| Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Short palm, Thin upper lip vermilion, Small scrotum, Hypospadias, Micrognathia, Carious teeth, Cr... |
OMIM:616734 |
| Frontometaphyseal Dysplasia |
|
Short metacarpal, Craniosynostosis, Ureteral obstruction, Micrognathia, Urethral stenosis, Short ... |
ORPHA:1826 |
| Pituitary Hormone Deficiency, Combined Or Isolated, 8 |
|
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Decreased serum insulin... |
OMIM:620303 |
| Polysyndactyly With Cardiac Malformation |
|
Atrial septal defect, Stillbirth, Ventricular septal defect, Renal cyst |
OMIM:263630 |
| Molybdenum Cofactor Deficiency, Complementation Group A |
|
Frontal bossing, Xanthine nephrolithiasis, Increased urinary sulfite level, Absent urinary urothi... |
OMIM:252150 |
| Diamond-Blackfan Anemia 12 |
|
Ventricular septal defect |
OMIM:615550 |
| Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Hyperactivity, Pancytopenia, Aplastic anemia, Thrombocytopenia, Persisten... |
OMIM:617052 |
| Hartsfield Syndrome |
|
Median cleft lip, Diabetes insipidus, Cleft upper lip, Alobar holoprosencephaly, Cryptorchidism, ... |
OMIM:615465 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Aortic regurgitation, Optic disc pallor, Ventricular septal defect, Anterior pituitary hypoplasia... |
ORPHA:464306 |
| Norrie Disease |
|
Retinal detachment, Aplasia/Hypoplasia of the lens, Remnants of the hyaloid vascular system, Abno... |
ORPHA:649 |
| Miller-Dieker Lissencephaly Syndrome |
|
Delayed eruption of teeth, Thin upper lip vermilion, Cryptorchidism, Cleft palate, Abnormal heart... |
OMIM:247200 |
| X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency |
|
Decreased serum insulin-like growth factor 1, Ectopic posterior pituitary, Decreased response to ... |
ORPHA:67045 |
| Joubert Syndrome 38 |
|
Decreased serum insulin-like growth factor 1, Ectopic posterior pituitary, Decreased response to ... |
OMIM:619476 |
| Combined Oxidative Phosphorylation Deficiency 15 |
|
Wolff-Parkinson-White syndrome, Optic disc pallor, Ventricular septal defect, Ataxia, Unsteady ga... |
OMIM:614947 |
| Treacher Collins Syndrome 1 |
|
Cleft soft palate, Micrognathia, Cryptorchidism, Bilateral microphthalmos, Cleft palate, Abnormal... |
OMIM:154500 |
| Ulnar-Mammary Syndrome |
|
Hypoplasia of penis, Ventricular septal defect, Pyloric stenosis, Cryptorchidism, Renal hypoplasi... |
ORPHA:3138 |
| Toxic Epidermal Necrolysis |
|
Gastrointestinal hemorrhage, Renal insufficiency, Dysuria, Sudden cardiac death, Malabsorption, I... |
ORPHA:537 |
| Craniotubular Dysplasia, Ikegawa Type |
|
Thickened calvaria, Short palm, Ventricular septal defect, Optic neuropathy, Dolichocephaly, Thic... |
OMIM:619727 |
| X Small Rings |
|
Thin upper lip vermilion, Bicuspid aortic valve, Ventricular septal defect, Fetal pyelectasis, Up... |
ORPHA:96201 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s... |
ORPHA:99125 |
| Diets-Jongmans Syndrome |
|
Thin upper lip vermilion, Hypospadias, Ventricular septal defect, Cryptorchidism, Wide mouth, Int... |
OMIM:618846 |
| Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Urethral stricture, Urinary incontinence, Downturned corners of mouth, High palate, Atrial septal... |
OMIM:619522 |
| Pituitary Hormone Deficiency, Combined, 6 |
|
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Decreased circulating A... |
OMIM:613986 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Distal lower limb amyotrophy, Squamous cell carcinoma of the skin |
ORPHA:79396 |
| Anterior Segment Dysgenesis 5 |
|
Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia |
OMIM:604229 |
| Penile Agenesis |
|
Atrial septal defect, Urethral atresia, male, Ventricular septal defect, Hydroureter, Rectal fist... |
ORPHA:49 |
| Roifman Syndrome |
|
Decreased T cell activation, Decreased circulating antibody level |
ORPHA:353298 |
| Keutel Syndrome |
|
Sinusitis, Miscarriage, Ventricular septal defect, Short hallux, Short thumb, Deep philtrum, Shor... |
OMIM:245150 |
| Kinsship Syndrome |
|
Mandibular prognathia, Thin upper lip vermilion, Ventriculomegaly, Death in infancy, Micrognathia... |
OMIM:619297 |
| Wiedemann-Rautenstrauch Syndrome |
|
Delayed eruption of teeth, Natal tooth, Prominent scalp veins, Secundum atrial septal defect, Cry... |
OMIM:264090 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Mandibular prognathia, Dental crowding, Decreased response to growth hormone stimulation test, Mi... |
OMIM:619503 |
| Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Microretrognathia, Thin upper lip vermilion, Retinal detachment, Intestinal malrotation, Hiatus h... |
OMIM:601776 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Abnormality of B cell physiology, Lymphoma, Impaired T cell function, Decreased lymphocyte prolif... |
OMIM:613179 |
| Van Maldergem Syndrome 1 |
|
Irregular dentition, Tented upper lip vermilion, Subcortical band heterotopia, Dental malocclusio... |
OMIM:601390 |
| Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant |
|
Mandibular prognathia, Thin upper lip vermilion, Subdural hemorrhage |
OMIM:619714 |
| Chromosome 16P13.3 Duplication Syndrome |
|
Thin upper lip vermilion, Midface retrusion, Tented upper lip vermilion, Atrial septal defect, Ve... |
OMIM:613458 |
| Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Frontal bossing, Rhizomelia, Hemiatrophy, Microphthalmia, Malar flattening, Hydronephrosis |
OMIM:302960 |
| Desbuquois Syndrome |
|
Ventricular septal defect, Small hand |
ORPHA:1425 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Increased circulating IgA level, Increased circulating IgG level, Increased circulating IgM level... |
OMIM:603909 |
| Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Unilateral renal agenesis, Ectopic kidney, Cryptorchidism, Simplified gyral pattern, Renal hypopl... |
OMIM:616541 |
| Anterior Segment Dysgenesis 7 |
|
Buphthalmos, Microphthalmia, Iris coloboma |
OMIM:269400 |
| Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Situs inversus totalis, Chronic sinusitis, Dextrocardia |
OMIM:619607 |
| Pmm2-Cdg |
|
Elevated circulating thyroid-stimulating hormone concentration, Intracranial hemorrhage, High pal... |
ORPHA:79318 |
| Flna-Related X-Linked Myxomatous Valvular Dysplasia |
|
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Patent ductus arteriosus, T... |
ORPHA:555877 |
| Choreoacanthocytosis |
|
Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Acanthocyto... |
ORPHA:2388 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Absence of Stensen duct, Selective tooth agenesis, Decreased response to growth hormone stimulati... |
OMIM:604292 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Congestive heart failure, Inability to walk, Abnormal heart morphology, Gray matter heterotopia, ... |
ORPHA:26791 |
| Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Communicating hydrocephalus, Frontal bossing, Mandibular prognathia, High palate, Malar flattenin... |
OMIM:617011 |
| Crane-Heise Syndrome |
|
Hypoplasia of penis, Hypoplastic scapulae, Aplastic clavicle, Micrognathia, Cryptorchidism, Cleft... |
ORPHA:1512 |
| Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction |
|
Renal hypoplasia, Hypertrophy of the urinary bladder, Urethral obstruction, Renal dysplasia, Anal... |
OMIM:601389 |
| Holt-Oram Syndrome |
|
Hypoplasia of the ulna, Short humerus, Ventricular septal defect, Aplasia of the ulna, Secundum a... |
OMIM:142900 |
| Goldberg-Shprintzen Syndrome |
|
Aortic regurgitation, Aganglionic megacolon, Ventricular septal defect, Hypoplasia of the maxilla... |
OMIM:609460 |
| Mgat2-Cdg |
|
Abnormal bleeding, Dental crowding, Ventricular septal defect, Dolichocephaly, Patent ductus arte... |
ORPHA:79329 |
| Ulnar-Mammary Syndrome |
|
Ectopic posterior pituitary, Small scrotum, Anterior pituitary hypoplasia, Aplasia of the 3rd met... |
OMIM:181450 |
| Pontocerebellar Hypoplasia, Type 8 |
|
Ventricular septal defect, Tented upper lip vermilion, Patent foramen ovale |
OMIM:614961 |
| Asparagine Synthetase Deficiency |
|
Dilated fourth ventricle, Optic nerve hypoplasia, Micrognathia, Simplified gyral pattern, Dilated... |
OMIM:615574 |
| Prader-Willi Syndrome |
|
Small scrotum, Decreased response to growth hormone stimulation test, External genital hypoplasia... |
ORPHA:739 |
| Carney Complex |
|
Thyroid carcinoma, Papillary thyroid carcinoma, Neoplasm of the breast, Leydig cell neoplasia, Ov... |
ORPHA:1359 |
| Pontocerebellar Hypoplasia, Type 10 |
|
Thin upper lip vermilion, Cryptorchidism, Simplified gyral pattern, Syringomyelia, High palate, W... |
OMIM:615803 |
| Digeorge Syndrome |
|
Micrognathia, High, narrow palate, Parathyroid hypoplasia, High palate, Short philtrum, Hypoplasi... |
OMIM:188400 |
| Autosomal Recessive Cutis Laxa Type 1 |
|
Peripheral pulmonary artery stenosis, Abnormal cardiac ventricular function, Recurrent urinary tr... |
ORPHA:90349 |
| Eec Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypospadias, Abnormal dental enamel morphology, Decreased respon... |
ORPHA:1896 |
| Diamond-Blackfan Anemia |
|
Radial artery aplasia, Hypospadias, Cleft soft palate, Ventricular septal defect, Renal agenesis,... |
ORPHA:124 |
| Rodrigues Blindness |
|
Microphthalmia, Tooth malposition |
OMIM:268320 |
| X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
Elevated amniotic fluid alpha-fetoprotein, HbH hemoglobin |
ORPHA:423479 |
| Acute Liver Failure |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Shock, Ataxia, Intracranial hemorrhage, Prolonged... |
ORPHA:90062 |
| Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome |
|
Ventriculomegaly, Dental crowding, Micrognathia, Retrognathia, Thin vermilion border, Short philt... |
OMIM:618343 |
| Hennekam-Beemer Syndrome |
|
Micrognathia, Thick lower lip vermilion, Optic atrophy, High palate, Ventriculomegaly |
ORPHA:2135 |
| Craniosynostosis 4 |
|
Ectopic posterior pituitary, Optic nerve hypoplasia |
OMIM:600775 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
| Toriello-Carey Syndrome |
|
Ventriculomegaly, Aganglionic megacolon, Micrognathia, Cryptorchidism, Partial agenesis of the co... |
ORPHA:3338 |
| Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures |
|
Broad jaw, Exaggerated cupid's bow, Micrognathia, Wide mouth, Macroglossia, High palate, Short pa... |
OMIM:614501 |
| Non-Acquired Panhypopituitarism |
|
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Ant... |
ORPHA:90695 |
| Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Bilateral cryptorchidism, Hydrocephalus, Abnormal palate morphology, Hypogonadism, Gait disturban... |
ORPHA:3042 |
| Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Patent foramen ovale, Ventricular septal defect |
OMIM:610338 |
| Stevens-Johnson Syndrome |
|
Gastrointestinal hemorrhage, Renal insufficiency, Dysuria, Sudden cardiac death, Myocardial infar... |
ORPHA:36426 |
| Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Frontal bossing, Recurrent urinary tract infections, Optic nerve hypoplasia, Unilateral renal age... |
ORPHA:221139 |
| Noonan Syndrome 1 |
|
Abnormal bleeding, Hypospadias, Ventricular septal defect, Micrognathia, High, narrow palate, Cry... |
OMIM:163950 |
| Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Hypoparathyroidism, Renal dysplasia, Renal insufficiency, Septate vagina, Unilateral renal agenes... |
ORPHA:2237 |
| Igg4-Related Kidney Disease |
|
Renal interstitial immunoglobulin deposits, Sterile pyuria, Tubulointerstitial nephritis, Abnorma... |
ORPHA:449395 |
| Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Precocious puberty, Ataxia, Abnormality of neuronal migration, Abnormal neuron morphology |
ORPHA:163681 |
| 1P36 Deletion Syndrome |
|
Hypoplasia of penis, Brachycephaly, Renal cyst, Agenesis of corpus callosum, Abnormality of the a... |
ORPHA:1606 |
| Campomelic Dysplasia |
|
11 pairs of ribs, Small abnormally formed scapulae, Micrognathia, Male pseudohermaphroditism, Cle... |
ORPHA:140 |
| Schimke Immuno-Osseous Dysplasia |
|
Lymphoproliferative disorder, Impaired T cell function, Abnormal lymphocyte physiology, Bone marr... |
ORPHA:1830 |
| Van Maldergem Syndrome 2 |
|
Irregular dentition, Tented upper lip vermilion, Cryptorchidism, Subcortical band heterotopia, De... |
OMIM:615546 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4 |
|
Smooth philtrum, Thin upper lip vermilion, Micrognathia, Renal cortical cysts, Downturned corners... |
OMIM:618548 |
| Cornelia De Lange Syndrome |
|
Hypoplasia of penis, Micromelia, Micrognathia, Brachycephaly, Downturned corners of mouth, Widely... |
ORPHA:199 |
| Adnp Syndrome |
|
Thin upper lip vermilion, Ventriculomegaly, Recurrent urinary tract infections, Urinary incontine... |
ORPHA:404448 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Lateral ventricle dilatation, Short umbilical cord |
OMIM:618367 |
| Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Malar flattening, Dental malocclusion, High palate, Short finger, Microphthalmia, Retrognathia, H... |
OMIM:601552 |
| Cerebral Palsy, Spastic Quadriplegic, 3 |
|
Gray matter heterotopia |
OMIM:617008 |
| Coffin-Siris Syndrome 12 |
|
Frontal bossing, Hypospadias, Facial palsy, Micrognathia, Celiac disease, Cryptorchidism, Velopha... |
OMIM:619325 |
| Cerebellofaciodental Syndrome |
|
Ventricular septal defect, Cryptorchidism, Dental malocclusion, Mitral valve prolapse, Taurodonti... |
OMIM:616202 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Thin upper lip vermilion, Small scrotum, Hypogonadotropic hypogonadism, Decreased response to gro... |
ORPHA:177901 |
| Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Decreased lymphocyte proliferation in response to mitogen, Panhypogammaglobulinemia, Lack of T ce... |
ORPHA:572 |
| Cerebrofaciothoracic Dysplasia |
|
Cleft upper lip, Brachycephaly, Cleft palate, Wide mouth, Broad philtrum, Midface retrusion, Vent... |
ORPHA:1394 |
| Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Renal dysplasia, Oral mucosal blisters, Abnormality of the urethra, Congenital pyloric atresia, A... |
ORPHA:158684 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
11 pairs of ribs, Short metacarpal, Bicuspid aortic valve, Ventricular septal defect, Micrognathi... |
OMIM:271640 |
| Gaucher Disease, Perinatal Lethal |
|
Everted upper lip vermilion, Micrognathia, Everted lower lip vermilion, Narrow mouth, Neonatal de... |
OMIM:608013 |
| Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Small scrotum, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation te... |
ORPHA:98754 |
| Codas Syndrome |
|
Delayed eruption of teeth, Short humerus, Short metacarpal, Ventricular septal defect, Cryptorchi... |
OMIM:600373 |
| Acquired Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:464453 |
| Deafness, X-Linked 7 |
|
Unilateral microphthalmos |
OMIM:301018 |
| Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Small scrotum, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation te... |
ORPHA:98793 |
| Autosomal Dominant Kenny-Caffey Syndrome |
|
Papilledema, Persistence of primary teeth, Carious teeth, Bilateral microphthalmos, Retinal calci... |
ORPHA:93325 |
| Neurodevelopmental Disorder With Language Delay And Seizures |
|
Cryptorchidism, Ventricular septal defect, Hypothyroidism, Hypothalamic hamartoma |
OMIM:619908 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Small scrotum, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation te... |
ORPHA:177904 |
| Congenital Myopathy 13 |
|
Micrognathia, Cryptorchidism, Brachycephaly, Cleft palate, Downturned corners of mouth, High pala... |
OMIM:255995 |
| Syndromic Diarrhea |
|
Aortic regurgitation, Lymphopenia, Villous atrophy, Gastritis, Bicuspid aortic valve, Ventricular... |
ORPHA:84064 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Cutaneous anergy, Panhypogammaglobulinemia, Decreased lymphocyte proliferation in response to ant... |
OMIM:600802 |
| Bare Lymphocyte Syndrome, Type Ii |
|
Agammaglobulinemia, Cutaneous anergy, Panhypogammaglobulinemia |
OMIM:209920 |
| Lissencephaly 9 With Complex Brainstem Malformation |
|
Pachygyria, Ventricular septal defect, Lissencephaly |
OMIM:618325 |
| Yunis-Varon Syndrome |
|
Flat occiput, Micrognathia, Short metatarsal, Abnormal calvaria morphology, Short philtrum, High ... |
OMIM:216340 |
| Congenital Tracheomalacia |
|
Ventricular septal defect, Cardiomegaly, Esophageal atresia, Patent ductus arteriosus, Partial an... |
ORPHA:95430 |
| Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Communicating hydrocephalus, Gait ataxia, High palate, Difficulty walking, Ventriculomegaly |
ORPHA:457359 |
| Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Tethered cord, Patent ductus arteriosus, Optic atrophy, Umbilical hernia, Ventriculomegaly |
OMIM:618164 |
| Distal Deletion 6P |
|
Ventriculomegaly, Abnormality of the dentition, Micrognathia, Orofacial cleft, Downturned corners... |
ORPHA:96125 |
| Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Cone/cone-rod dystrophy, Optic disc pallor, Decreased CSF albumin concentration, Optic atrophy, G... |
ORPHA:404454 |
| Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Absent external genitalia, Missing ribs, Urethral atresia, Aplasia of the vagina, Short ribs, Apl... |
OMIM:271520 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Optic disc pallor, Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Precoc... |
ORPHA:438213 |
| Alg11-Cdg |
|
Gray matter heterotopia, Ataxia, Long philtrum |
ORPHA:280071 |
| Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Anemia, Neutropenia, Thrombocy... |
OMIM:260400 |
| Developmental And Epileptic Encephalopathy 100 |
|
Tented upper lip vermilion, Protruding tongue, Micrognathia, Small hand, Gingival overgrowth, Hig... |
OMIM:619777 |
| Lymphatic Filariasis |
|
Proteinuria, Abnormality of the kidney, Glomerulonephritis, Orchitis, Epididymitis, Vaginal hydro... |
ORPHA:2035 |
| Ectodermal Dysplasia-Blindness Syndrome |
|
Microphthalmia, Abnormality of the dentition |
ORPHA:1806 |
| Congenital Tracheal Stenosis |
|
Ventricular septal defect, Abnormality of the kidney, Abnormal stomach morphology, Ascending aort... |
ORPHA:141127 |
| Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Hypoplasia of the uterus, Microphthalmia, Increased circulating gonadotropin level, High palate |
OMIM:110100 |
| Schinzel-Giedion Midface Retraction Syndrome |
|
Small scrotum, Hypospadias, Ureteral stenosis, Hydroureter, Hypoplastic labia minora, Splenopancr... |
OMIM:269150 |
| Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Hypoplasia of penis, Micromelia, Micrognathia, Renal cyst, Short palm, Agenesis of corpus callosu... |
ORPHA:93271 |
| Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation |
|
Wide mouth, Gray matter heterotopia, Gingival overgrowth, Protruding tongue |
OMIM:618797 |
| Pallister-Killian Syndrome |
|
Tented upper lip vermilion, Small scrotum, Micrognathia, Renal cyst, Anteriorly placed anus, Shor... |
OMIM:601803 |
| Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Self-injurious behavior, Abnormal hemoglobin, Anemia |
ORPHA:847 |
| Kenny-Caffey Syndrome, Type 2 |
|
Hypoparathyroidism, Papilledema, Microphthalmia, Retinal calcification |
OMIM:127000 |
| Thymoma |
|
Leukemia, Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis |
ORPHA:99867 |
| Diamond-Blackfan Anemia 5 |
|
Ventricular septal defect |
OMIM:612528 |
| Combined Oxidative Phosphorylation Deficiency 3 |
|
Death in infancy, Optic neuropathy, Patent ductus arteriosus, Optic atrophy, Death in childhood, ... |
OMIM:610505 |
| Microphthalmia, Isolated, With Corectopia |
|
Microphthalmia |
OMIM:156900 |
| Cornea Plana 2, Autosomal Recessive |
|
Microphthalmia |
OMIM:217300 |
| De Sanctis-Cacchione Syndrome |
|
Bilateral cryptorchidism, Axonal degeneration, Optic atrophy, Gonadal hypoplasia, Decreased CSF 5... |
OMIM:278800 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
High palate, Open mouth, Ventricular septal defect, Retinal hemorrhage |
OMIM:614653 |
| Liver Disease, Severe Congenital |
|
Chronic gastritis, Cardiomegaly, Biliary hyperplasia, Micrognathia, Abnormal left ventricular fun... |
OMIM:619991 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Ventricular septal defect, Phthisis bulbi, Retinal calcification, Exudative retinopathy, Vitreore... |
OMIM:259770 |
| Gabriele-De Vries Syndrome |
|
Abnormality of upper lip vermillion, Decreased response to growth hormone stimulation test, Crani... |
ORPHA:506358 |
| Early Infantile Epileptic Encephalopathy |
|
Ventricular septal defect, Precocious puberty, Cleft palate, Ureterocele, Short finger, Umbilical... |
ORPHA:1934 |
| Sotos Syndrome |
|
Ureteral duplication, No permanent dentition, Vesicoureteral reflux, Atrial septal defect, Hyposp... |
ORPHA:821 |
| T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Partial IgA deficiency, Lack of T cell function, Decreased circulating total IgM, Decreased lymph... |
ORPHA:35078 |
| Johanson-Blizzard Syndrome |
|
Anteriorly placed anus, Downturned corners of mouth, Death in childhood, Atrial septal defect, Hy... |
OMIM:243800 |
| Cutis Laxa, Autosomal Dominant 1 |
|
Aortic regurgitation, Ventricular septal defect, Congestive heart failure, Mitral regurgitation, ... |
OMIM:123700 |
| Immunodeficiency 58 |
|
Decreased specific antibody response to vaccination, Decreased T cell activation, Verrucae, Decre... |
OMIM:618131 |
| Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia |
|
Gray matter heterotopia, Thick lower lip vermilion, Thick upper lip vermilion, Narrow mouth |
OMIM:608624 |
| Shigellosis |
|
Intestinal perforation, Myocarditis, Hemolytic-uremic syndrome, Urethritis, Ulcerative colitis, P... |
ORPHA:810 |
| X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Brachycephaly, Abnormal periodontium morphology, High palate, Dandy-Walker malformation, Cyst of ... |
ORPHA:480880 |
| Ctcf-Related Neurodevelopmental Disorder |
|
Thin upper lip vermilion, Craniosynostosis, Abnormality of the dentition, Phimosis, Cryptorchidis... |
ORPHA:363611 |
| Proteus Syndrome |
|
Abnormality of retinal pigmentation, Thymus hyperplasia, Abnormal dental enamel morphology, Sudde... |
ORPHA:744 |
| Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Delayed eruption of teeth, Aortic regurgitation, Ventricular hypertrophy, Tricuspid regurgitation... |
OMIM:143095 |
| Cardiospondylocarpofacial Syndrome |
|
Ventricular septal defect, Muscular ventricular septal defect, Hypoplastic aortic arch, Dysplasti... |
OMIM:157800 |
| Wiskott-Aldrich Syndrome |
|
Lymphoproliferative disorder, Reduced natural killer cell activity, Increased circulating IgA lev... |
OMIM:301000 |
| Microsporidiosis |
|
Sinusitis, Myocarditis, Abnormality of the parathyroid gland, Prostatitis, Urethritis, Abnormal e... |
ORPHA:2552 |
| Obesity Due To Congenital Leptin Deficiency |
|
Decreased T cell activation |
ORPHA:66628 |
| Periventricular Nodular Heterotopia 9 |
|
Everted upper lip vermilion, Broad-based gait, Hypoplastic philtrum, Gingival overgrowth, Gray ma... |
OMIM:618918 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Ventricular septal defect, Cleft palate |
OMIM:178110 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Decreased T cell activation |
ORPHA:179494 |
| Orotic Aciduria |
|
Atrial septal defect, Ventricular septal defect |
OMIM:258900 |
| Xeroderma Pigmentosum, Complementation Group D |
|
Microphthalmia, Corneal neovascularization, Telangiectasia |
OMIM:278730 |
| Meester-Loeys Syndrome |
|
Frontal bossing, Gingival overgrowth, High palate, Dolichocephaly, Umbilical hernia, Malar flatte... |
OMIM:300989 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Aortic regurgitation, Duplicated collecting system, Ventricular septal defect, Cryptorchidism, Hi... |
OMIM:607721 |
| Encephalocraniocutaneous Lipomatosis |
|
Craniofacial hyperostosis, Agenesis of corpus callosum, Retinopathy, Iris coloboma, Ventriculomegaly |
ORPHA:2396 |
| Cryptophthalmos, Unilateral Or Bilateral, Isolated |
|
Microphthalmia |
OMIM:123570 |
| Fanconi Anemia, Complementation Group N |
|
Short thumb, Nephroblastoma, Ventricular septal defect |
OMIM:610832 |
| Congenital Disorder Of Glycosylation, Type Iiw |
|
Membranoproliferative glomerulonephritis, Ventricular septal defect, Microscopic hematuria, Micro... |
OMIM:619525 |
| Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Impaired T cell function |
OMIM:201100 |
| Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Ambiguous genitalia, Ventricular septal defect, Pancreatic fibrosis, Short ribs |
OMIM:615503 |
| African Trypanosomiasis |
|
Papilledema, Ventriculomegaly, Renal insufficiency, Miscarriage, Urinary incontinence, Myelopathy... |
ORPHA:3385 |
| Lowe Oculocerebrorenal Syndrome |
|
Renal insufficiency, Hyperphosphaturia, Cryptorchidism, Bicarbonaturia, Proximal renal tubular ac... |
OMIM:309000 |
| Coffin-Lowry Syndrome |
|
Mandibular prognathia, Short metacarpal, Rectal prolapse, Thick lower lip vermilion, Dental maloc... |
OMIM:303600 |
| Peroxisome Biogenesis Disorder 13A (Zellweger) |
|
Gray matter heterotopia, Polymicrogyria |
OMIM:614887 |
| Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Defective T cell proliferation, Increased circulating IgG level, Decreased T cell activation, Inc... |
OMIM:618213 |
| Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Death in infancy, Multicystic kidney dysplasia, Hypospadias, Aganglionic megacolon, Unilateral re... |
OMIM:308205 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Reduced delayed hypersensitivity |
OMIM:242700 |
| Hereditary Orotic Aciduria |
|
Impaired T cell function |
ORPHA:30 |
| 3-Methylglutaconic Aciduria, Type Viii |
|
Death in infancy, Patent ductus arteriosus, Increased CSF lactate, 3-Methylglutaric aciduria, 3-M... |
OMIM:617248 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Oligoclonal T cell expansion, Decreased lymphocyte proliferation in response to mitogen |
ORPHA:83471 |
| Combined Immunodeficiency-Enteropathy Spectrum |
|
Autoimmune hemolytic anemia, Ventricular septal defect, Intestinal malrotation, Jejunoileal ulcer... |
ORPHA:436252 |
| Isolated Arrhinia |
|
Microphthalmia, Hypoplasia of the nasal bone |
ORPHA:1134 |
| Aprosencephaly Syndrome |
|
Aprosencephaly, Anencephaly, Hand oligodactyly |
OMIM:207770 |
| Primrose Syndrome |
|
Hypergonadotropic hypogonadism, Bilateral cryptorchidism, Cryptorchidism, Hypoplasia of the maxil... |
OMIM:259050 |
| Sarcoidosis, Susceptibility To, 1 |
|
Abnormality of T cell physiology, Increased circulating antibody level |
OMIM:181000 |
| Progeroid Short Stature With Pigmented Nevi |
|
Impaired T cell function |
OMIM:176690 |
