| Fraxf Syndrome |
|
Folate-dependent fragile site at Xq28 |
ORPHA:100974 |
| Mosaic Variegated Aneuploidy Syndrome 4 |
|
Abnormality of chromosome stability |
OMIM:620153 |
| Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
| 46,Xx Testicular Difference Of Sex Development |
|
Decreased testicular size, Male hypogonadism, Ambiguous genitalia, Polycystic ovaries |
ORPHA:393 |
| 3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
|
Hypoglycemia |
ORPHA:35701 |
| Maturity-Onset Diabetes Of The Young, Type 10 |
|
Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Diabetic ketoacidosis |
OMIM:613370 |
| Warburg Micro Syndrome 1 |
|
Wide nasal bridge, Cerebellar vermis hypoplasia, Facial hypertrichosis, Failure to thrive, Cerebr... |
OMIM:600118 |
| Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
| Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Myelopathy, Spinal cord compression, Diabetes mellitus |
OMIM:602475 |
| Familial Hyperprolactinemia |
|
Female hypogonadism, Hemorrhagic ovarian cyst, Amenorrhea, Oligomenorrhea, Infertility, Menorrhagia |
ORPHA:397685 |
| Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Hypoplasia of the pons, Recurrent bronchitis, Cryptorchidism, Sparse eyelashes, Hypospadias, Pate... |
OMIM:619293 |
| Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia |
OMIM:610021 |
| Pycnodysostosis |
|
Small hand, Carious teeth, Delayed cranial suture closure, Acromelia, Hepatosplenomegaly, Microgn... |
ORPHA:763 |
| Mcdonough Syndrome |
|
Dental malocclusion, Underdeveloped nasal alae, Open bite, Prominent nose, Micrognathia, Cryptorc... |
ORPHA:2471 |
| Fanconi Anemia, Complementation Group S |
|
Sparse hair, Chromosome breakage, Dental malocclusion, Failure to thrive, Underdeveloped nasal al... |
OMIM:617883 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Joint contracture of the hand, Carious teeth, Basal ganglia calcification, Micrognathia, Cryptorc... |
OMIM:214150 |
| Bone Marrow Failure Syndrome 3 |
|
Aplastic anemia, Small nail, Persistence of hemoglobin F, Pancytopenia, Micrognathia, Cryptorchid... |
OMIM:617052 |
| Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
| Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Open mouth, Hypoplasia of the corpus callosum, Hip contracture, Cachexia, Short neck, Osteopenia,... |
OMIM:616801 |
| Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Cardiomyopathy, Hypoglycemia |
OMIM:609016 |
| Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Hypogonadism, Decreased testicular size, Abnormality of the ovary |
ORPHA:1875 |
| Lig4 Syndrome |
|
Wide nasal bridge, Acute leukemia, Abnormality of chromosome stability, Abnormal bone marrow cell... |
ORPHA:99812 |
| Alpha-Mannosidosis |
|
Synostosis of joints, Craniofacial hyperostosis, Narrow palate, Depressed nasal bridge, Dental ma... |
ORPHA:61 |
| Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Osteopenia, Elevated circulating hepatic transaminase concentration, Dental malocclusion, Failure... |
ORPHA:329178 |
| Microcephaly 16, Primary, Autosomal Recessive |
|
Micrognathia, Open mouth, Cryptorchidism, Knee flexion contracture, Agenesis of corpus callosum, ... |
OMIM:616681 |
| Renpenning Syndrome |
|
High, narrow palate, Hypospadias, Alopecia, Abnormal hairshaft morphology, Broad columella, Macro... |
ORPHA:3242 |
| Gonadoblastoma |
|
Ovarian gonadoblastoma, Abnormality of the ovary, Gonadal calcification, Ambiguous genitalia, Gon... |
ORPHA:206484 |
| Transaldolase Deficiency |
|
Clitoral hypertrophy, Hepatosplenomegaly, Pancytopenia, Short neck, Cirrhosis, Hepatomegaly, Pate... |
OMIM:606003 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Congenital Disorder Of Glycosylation, Type Iik |
|
Failure to thrive, Secondary microcephaly, Elevated circulating aspartate aminotransferase concen... |
OMIM:614727 |
| Hyperinsulinism Due To Insr Deficiency |
|
Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... |
ORPHA:263458 |
| 3Q13 Microdeletion Syndrome |
|
Wide nasal bridge, Long philtrum, Anteverted nares, Joint stiffness, Cryptorchidism, Agenesis of ... |
ORPHA:1621 |
| 46,Xy Complete Gonadal Dysgenesis |
|
Hypogonadotropic hypogonadism, Male pseudohermaphroditism, Testicular dysgenesis, Polycystic ovaries |
ORPHA:242 |
| Camptodactyly Syndrome, Guadalajara Type 1 |
|
Open bite, Narrow mouth, High palate, Short nose, Downturned corners of mouth, Short toe, Sacral ... |
ORPHA:1327 |
| Hallermann-Streiff Syndrome |
|
Natal tooth, Micrognathia, Narrow mouth, Cryptorchidism, Sparse eyelashes, Everted lower lip verm... |
OMIM:234100 |
| Forsythe-Wakeling Syndrome |
|
Prominent nasal bridge, Decreased body weight, Microcephaly, Thrombocytopenia, Osteoporosis, Fron... |
OMIM:613606 |
| Seckel Syndrome 1 |
|
Clitoral hypertrophy, Pancytopenia, Micrognathia, Cryptorchidism, Dislocated radial head, High pa... |
OMIM:210600 |
| Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone |
|
Hypoglycemia |
OMIM:223500 |
| Immunodeficiency 54 |
|
Chromosome breakage, Reduced natural killer cell count, Failure to thrive, Adrenal insufficiency,... |
OMIM:609981 |
| Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum |
|
Depressed nasal bridge, Parietal cortical atrophy, Bulbous nose, Micrognathia, Narrow mouth, Cryp... |
OMIM:618766 |
| Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Wide nasal bridge, Hypoplastic female external genitalia, Plagiocephaly, Long philtrum, Anteverte... |
OMIM:618577 |
| Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Pancytopenia, Hypersplenism, Hepatomegaly, Thoracic kyphoscoliosis, Choanal atresia, Failure to t... |
OMIM:613385 |
| Moynahan Syndrome |
|
Alopecia, Hypogonadism, Microcephaly, Cachexia, Sparse hair, Hyperkeratosis |
ORPHA:2574 |
| Hepatic Adenomas, Familial |
|
Polycystic ovaries |
OMIM:142330 |
| Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Small hand, Micrognathia, Narrow mouth, Cryptorchidism, Short neck, Abnormality of the knee, High... |
ORPHA:251028 |
| Potocki-Lupski Syndrome |
|
Mandibular prognathia, Dental malocclusion, Dental crowding, Failure to thrive, Trigonocephaly, M... |
OMIM:610883 |
| Scleroderma, Familial Progressive |
|
Chromosome breakage, Abnormality of chromosome stability |
OMIM:181750 |
| Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Insulin-resistant diabetes mellitus, Microcytic anemia, Micrognathia, Hepatic steatosis, Low post... |
ORPHA:2959 |
| Macrocephaly, Acquired, With Impaired Intellectual Development |
|
Sparse eyebrow, Long philtrum, Probst bundles, Narrow nasal bridge, Anteverted nares, Agenesis of... |
OMIM:618286 |
| Fructose And Galactose Intolerance |
|
Hypoglycemia |
OMIM:229500 |
| Hall-Riggs Syndrome |
|
Platyspondyly, Depressed nasal bridge, Kyphosis, Failure to thrive, Thick lower lip vermilion, Pr... |
OMIM:234250 |
| Craniosynostosis 3 |
|
Dental malocclusion, Bicoronal synostosis, Low anterior hairline, Sagittal craniosynostosis, Righ... |
OMIM:615314 |
| Craniofacial Conodysplasia |
|
Spinal cord compression |
ORPHA:85168 |
| Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Wide nasal bridge, Delayed epiphyseal ossification, Abnormal vertebral morphology, Cerebral atrop... |
ORPHA:166024 |
| X-Linked Intellectual Disability, Cabezas Type |
|
Small hand, Open bite, Cachexia, Short neck, High palate, Short foot, Biparietal narrowing, Decre... |
ORPHA:85293 |
| Lig4 Syndrome |
|
Wide nasal bridge, Failure to thrive, Pancytopenia, Prominent nose, Type II diabetes mellitus, Cr... |
OMIM:606593 |
| Aredyld Syndrome |
|
Craniofacial hyperostosis, Type I diabetes mellitus, Sparse body hair, Abnormal dental enamel mor... |
ORPHA:1133 |
| Prieto Syndrome |
|
Abnormality of the dentition, Retrognathia, Cerebral atrophy, Prominent nose, 11 pairs of ribs, C... |
OMIM:309610 |
| Rubinstein-Taybi Syndrome 2 |
|
Narrow palate, Highly arched eyebrow, Carious teeth, Dental malocclusion, Retrognathia, Short 5th... |
OMIM:613684 |
| Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Small hand, Micrognathia, Hypoplasia of the corpus callosum, Hip contracture, Severe failure to t... |
ORPHA:371364 |
| Hajdu-Cheney Syndrome |
|
Periodontitis, Open bite, Micrognathia, Narrow mouth, Decreased skull ossification, Absent fronta... |
ORPHA:955 |
| Congenital Disorder Of Glycosylation, Type Iiy |
|
Cerebral cortical atrophy, Scoliosis, Agenesis of corpus callosum, Microcephaly, Brachycephaly, H... |
OMIM:620200 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Abnormal cortical gyration, Elevated circulating hepatic transaminase concentration, Retrognathia... |
OMIM:614576 |
| Non-Distal Duplication 10Q |
|
Depressed nasal bridge, Micrognathia, Cryptorchidism, Joint hypermobility, Microcephaly, Brachyce... |
ORPHA:1695 |
| Cornelia De Lange Syndrome 5 |
|
Small hand, Micrognathia, Cryptorchidism, Short neck, High palate, Short foot, Broad nasal tip, D... |
OMIM:300882 |
| Aicardi-Goutieres Syndrome 4 |
|
Elevated circulating hepatic transaminase concentration, Cerebral atrophy, Hepatosplenomegaly, Ce... |
OMIM:610333 |
| X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome |
|
Retrognathia, Cerebral atrophy, Prominent nose, Cryptorchidism, Patellar subluxation, Osteoporosi... |
ORPHA:2958 |
| Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Abnormality of the dentition, Bone marrow hypocellularity, Hepatic fibrosis, Aplastic anemia, Ora... |
OMIM:613989 |
| Maternal Uniparental Disomy Of Chromosome 1 |
|
Type I diabetes mellitus, Downturned corners of mouth, Failure to thrive, Pancytopenia, Epiphysea... |
ORPHA:251009 |
| Nijmegen Breakage Syndrome-Like Disorder |
|
Chromosomal breakage induced by ionizing radiation |
OMIM:613078 |
| Lowry-Maclean Syndrome |
|
Aplasia/Hypoplasia of the corpus callosum, Micrognathia, Delayed eruption of primary teeth, Hypos... |
ORPHA:2409 |
| Schimke Immunoosseous Dysplasia |
|
Shallow acetabular fossae, Lymphopenia, Pancytopenia, Short neck, Neutropenia, Ovoid vertebral bo... |
OMIM:242900 |
| Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Delayed thelarche, Low anterior hairline, Joint hypermobility, Microcephaly, Short neck, Delayed ... |
OMIM:616033 |
| Cardiofaciocutaneous Syndrome 1 |
|
Aplasia/Hypoplasia of the corpus callosum, Open bite, Micrognathia, Open mouth, Absent eyelashes,... |
OMIM:115150 |
| Aromatase Deficiency |
|
Ovarian cyst, Female pseudohermaphroditism, Hypergonadotropic hypogonadism, Primary amenorrhea |
OMIM:613546 |
| Pierpont Syndrome |
|
Cryptorchidism, Decreased body weight, Short neck, Everted lower lip vermilion, Short foot, Short... |
OMIM:602342 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Carious teeth, Failure to thrive, Sandwich appearance of vertebral bodies, Frontal bossing, Patho... |
OMIM:259700 |
| Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemia |
OMIM:601820 |
| Christianson Syndrome |
|
Cerebral cortical atrophy, Arthrogryposis multiplex congenita, Abnormality of the nose, Aplasia/H... |
ORPHA:85278 |
| Mulibrey Nanism |
|
Wide nasal bridge, Depressed nasal bridge, Pigmentary retinopathy, Microglossia, Dental malocclus... |
OMIM:253250 |
| Cranioectodermal Dysplasia |
|
Abnormality of the dentition, Short distal phalanx of finger, Rhizomelia, Abnormal dental enamel ... |
ORPHA:1515 |
| Fowler Urethral Sphincter Dysfunction Syndrome |
|
Abnormality of the ovary, Polycystic ovaries, Amenorrhea, Oligomenorrhea, Menorrhagia |
ORPHA:2795 |
| Hajdu-Cheney Syndrome |
|
Micrognathia, Narrow mouth, Cryptorchidism, Genu valgum, Absent frontal sinuses, Crowded carpal b... |
OMIM:102500 |
| 19Q13.11 Microdeletion Syndrome |
|
Hypospadias, Congenital hip dislocation, Retrognathia, Bifid scrotum, Supernumerary nipple, Failu... |
ORPHA:217346 |
| Xp22.3 Microdeletion Syndrome |
|
Hypogonadotropic hypogonadism, Decreased fertility, Secondary amenorrhea, Polycystic ovaries |
ORPHA:1643 |
| Mccune-Albright Syndrome |
|
Increased circulating cortisol level, Increased circulating prolactin concentration, Osteomalacia... |
ORPHA:562 |
| Bloom Syndrome |
|
Type II diabetes mellitus, Cryptorchidism, Hepatic steatosis, Decreased fertility in females, Leu... |
OMIM:210900 |
| Pierpont Syndrome |
|
Abnormal cortical gyration, High anterior hairline, Short toe, Widely spaced teeth, Short finger,... |
ORPHA:487825 |
| Flynn-Aird Syndrome |
|
Alopecia, Carious teeth, Joint stiffness, Increased bone density with cystic changes, Alopecia of... |
OMIM:136300 |
| Rubinstein-Taybi Syndrome 1 |
|
Facial hypertrichosis, Delayed cranial suture closure, Micrognathia, Narrow mouth, Cryptorchidism... |
OMIM:180849 |
| Intellectual Disability And Myopathy Syndrome |
|
Congenital hip dislocation, Broad nasal tip, Dental malocclusion, Scoliosis, Lumbar hyperlordosis... |
OMIM:619719 |
| Rothmund-Thomson Syndrome, Type 1 |
|
Conical tooth, Male hypogonadism, Nail dystrophy, Premature ovarian insufficiency, Absent eyelash... |
OMIM:618625 |
| Takenouchi-Kosaki Syndrome |
|
Flared nostrils, Cryptorchidism, Hypoplasia of the corpus callosum, Hypospadias, Patent ductus ar... |
OMIM:616737 |
| Premature Ovarian Failure 5 |
|
Reduced antral follicle count, Streak ovary, Hypoplasia of the ovary, Primary amenorrhea, Prematu... |
OMIM:611548 |
| Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Bone marrow hypocellularity, Hepatic fibrosis, Carious teeth, Aplastic anemia, Oral leukoplakia, ... |
OMIM:224230 |
| Robinow Syndrome, Autosomal Dominant 2 |
|
Micrognathia, Cleft soft palate, Cryptorchidism, Short nose, Oligodontia, Thin upper lip vermilio... |
OMIM:616331 |
| Polycystic Ovary Syndrome 1 |
|
Enlarged polycystic ovaries, Amenorrhea, Oligomenorrhea |
OMIM:184700 |
| Flynn-Aird Syndrome |
|
Cerebral cortical atrophy, Alopecia, Carious teeth, Cerebral calcification, Primary adrenal insuf... |
ORPHA:2047 |
| Fanconi Anemia, Complementation Group J |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:609054 |
| Deafness-Intellectual Disability Syndrome, Martin-Probst Type |
|
Wide nasal bridge, Abnormality of the dentition, Dental malocclusion, Bifid scrotum, Thick lower ... |
ORPHA:85321 |
| Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome |
|
Precocious puberty, Hypergonadotropic hypogonadism, Polycystic ovaries |
ORPHA:2229 |
| Fragile X Syndrome |
|
Mandibular prognathia, Joint hypermobility, Macroorchidism, postpubertal, Pectus excavatum, Macro... |
OMIM:300624 |
| Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies |
|
Secondary microcephaly, Lymphopenia, Pancytopenia, Micrognathia, Open mouth, High palate, Patent ... |
OMIM:620654 |
| Zimmermann-Laband Syndrome |
|
Facial hypertrichosis, Micrognathia, Short neck, Hepatomegaly, High palate, Gingival fibromatosis... |
ORPHA:3473 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Cryptorchidism, Decreased growth hormone responses to growth hormone-releasing hormone challenge,... |
OMIM:101800 |
| Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome |
|
Short distal phalanx of finger, Joint hypermobility, Microcephaly, Wormian bones, Osteoporosis, F... |
ORPHA:2787 |
| Microcephaly 17, Primary, Autosomal Recessive |
|
Failure to thrive, Hypoplasia of the brainstem, Bulbous nose, Hypoplasia of the corpus callosum, ... |
OMIM:617090 |
| Acrootoocular Syndrome |
|
High, narrow palate, Wide nasal base, Dental malocclusion, Delayed eruption of teeth, Failure to ... |
ORPHA:2980 |
| Hamamy Syndrome |
|
Hypochromic anemia, Microcytic anemia, Micrognathia, Cryptorchidism, Sparse eyelashes, Low poster... |
OMIM:611174 |
| Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Type I diabetes mellitus, Palmoplantar keratoderma, Premature graying of hair, Abnormal hair morp... |
ORPHA:1979 |
| Schwartz-Jampel Syndrome |
|
Elbow dislocation, Pursed lips, Micrognathia, Narrow mouth, Genu valgum, Hip contracture, Decreas... |
ORPHA:800 |
| Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatic failure, Elevated circulating thyroid-stimulating hormone concentration, Failure to thriv... |
OMIM:617872 |
| Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Aplastic anemia, Premature graying of hair, Cerebral calcification, Pancytopenia, Cryptorchidism,... |
OMIM:613990 |
| Diabetes Mellitus, Transient Neonatal, 1 |
|
Transient neonatal diabetes mellitus, Hyperglycemia |
OMIM:601410 |
| Craniofrontonasal Dysplasia |
|
Hypoplasia of the corpus callosum, Low posterior hairline, High palate, Hypospadias, Depressed na... |
ORPHA:1520 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1 |
|
Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Bone marrow hypocellularity, A... |
OMIM:614742 |
| Winchester Syndrome |
|
Carpal osteolysis, Gingival overgrowth, Osteolysis involving tarsal bones, Arthropathy, Hirsutism... |
OMIM:277950 |
| Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Cerebral cortical atrophy, Malar prominence, Micrognathia, Hypogonadotropic hypogonadism, Hyperin... |
ORPHA:48431 |
| Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Micrognathia, Large fontanelles, Cryptorchidism, Radioulnar synostosis, Hypospadias, Patent ductu... |
ORPHA:171839 |
| Baraitser-Winter Syndrome 1 |
|
Cryptorchidism, Agenesis of corpus callosum, Low posterior hairline, Short neck, Patent ductus ar... |
OMIM:243310 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 16 |
|
Short 5th finger, Failure to thrive, Cerebral atrophy, Short 5th toe, Short 4th toe, Prominent na... |
OMIM:619060 |
| Degcags Syndrome |
|
Premature graying of hair, Cholestasis, Hepatosplenomegaly, Micrognathia, Pancytopenia, Protrudin... |
OMIM:619488 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Wide nasal bridge, Platyspondyly, Rhizomelia, Downturned corners of mouth, Micrognathia, Large fo... |
ORPHA:93267 |
| Silver-Russell Syndrome |
|
Precocious puberty, Premature adrenarche, Abnormal male external genitalia morphology, Dental cro... |
ORPHA:813 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Carious teeth, Mandibular osteomyelitis, Extramedullary hematopoiesis, Cranial hyperostosis, Oste... |
OMIM:259710 |
| Van Maldergem Syndrome 2 |
|
Micrognathia, Irregular dentition, Hypoplasia of the corpus callosum, Cryptorchidism, High palate... |
OMIM:615546 |
| Maternal Uniparental Disomy Of Chromosome X |
|
Depressed nasal bridge, Hepatic failure, Hypopigmentation of the skin, Camptodactyly of finger, A... |
ORPHA:261519 |
| Hypogonadotropic Hypogonadism 19 With Or Without Anosmia |
|
Osteoporosis, Abnormality of the dentition, Hypogonadotropic hypogonadism, Osteopenia |
OMIM:615269 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Impaired gluconeogenesis, Hypoglycemia |
OMIM:261650 |
| Ovarian Fibrothecoma |
|
Abnormality of the ovary, Gonadal calcification, Metrorrhagia, Abnormal endometrium morphology, O... |
ORPHA:314478 |
| Fragile X Syndrome |
|
Cerebral cortical atrophy, Frontal bossing, Macrocephaly, Joint hypermobility, Sinusitis, Folate-... |
ORPHA:908 |
| Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Dental malocclusion, Prominent nose, Kyphoscoliosis, Microcephaly, Synophrys |
OMIM:615541 |
| Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity |
|
Microcephaly, Pancytopenia, Abnormality of chromosome stability |
OMIM:600546 |
| Fanconi Anemia, Complementation Group D2 |
|
Pancytopenia, Cryptorchidism, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Neu... |
OMIM:227646 |
| Corpus Callosum, Agenesis Of |
|
Joint contracture of the hand, Agenesis of corpus callosum, Microcephaly, Macrocephaly, Camptodac... |
OMIM:217990 |
| Fanconi Anemia, Complementation Group C |
|
Pancytopenia, Cryptorchidism, Neutropenia, Absent radius, Leukemia, Absent thumb, Prolonged G2 ph... |
OMIM:227645 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 7 |
|
Cerebellar vermis hypoplasia, Polymicrogyria, Hypoplasia of the brainstem, Hypoplasia of the corp... |
OMIM:610031 |
| Hemifacial Atrophy, Progressive |
|
Dental malocclusion, Delayed eruption of teeth, Kyphosis, Patchy alopecia, Tongue atrophy, Polios... |
OMIM:141300 |
| Testicular Regression Syndrome |
|
Abnormal morphology of female internal genitalia, Decreased testicular size, Decreased fertility,... |
ORPHA:983 |
| Tetrasomy 12P |
|
Sparse eyebrow, Delayed eruption of teeth, Downturned corners of mouth, Long philtrum, Thick uppe... |
ORPHA:884 |
| Nestor-Guillermo Progeria Syndrome |
|
Micrognathia, Limited elbow movement, Sparse eyelashes, Alopecia, Sparse eyebrow, Spotty hyperpig... |
OMIM:614008 |
| Intermediate Osteopetrosis |
|
Abnormality of the dentition, Dental malocclusion, Sandwich appearance of vertebral bodies, Corti... |
ORPHA:210110 |
| Greig Cephalopolysyndactyly Syndrome |
|
Wide nasal bridge, Abnormal calvaria morphology, Joint contracture of the hand, Umbilical hernia,... |
OMIM:175700 |
| Oculodentodigital Dysplasia, Autosomal Recessive |
|
Small hand, Micrognathia, Narrow mouth, Large fontanelles, Sparse eyelashes, Long nose, Short foo... |
OMIM:257850 |
| Chromosome 3Pter-P25 Deletion Syndrome |
|
Micrognathia, Cryptorchidism, High palate, Flat occiput, Broad nasal tip, Downturned corners of m... |
OMIM:613792 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Platyspondyly, Bifid uvula, Depressed nasal bridge, Joint contracture of the hand, Dental maloccl... |
OMIM:612350 |
| Ataxia-Pancytopenia Syndrome |
|
Acute myelomonocytic leukemia, Abnormality of neutrophils, Pancytopenia, Splenomegaly, Abnormal m... |
ORPHA:2585 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Hypochromic anemia, Pancytopenia, Anemia of inadequate production, Acute myeloid leukemia, Neutro... |
ORPHA:75564 |
| Marshall-Smith Syndrome |
|
Atlantoaxial dislocation, Hypoplasia of the odontoid process, Aspiration pneumonia, Irregular den... |
OMIM:602535 |
| Auriculocondylar Syndrome 2A |
|
Mandibular condyle aplasia, Microglossia, Dental malocclusion, Dental crowding, Temporomandibular... |
OMIM:614669 |
| Bangstad Syndrome |
|
Cerebral hypoplasia, Retrognathia, Insulin-resistant diabetes mellitus, Goiter, Pancytopenia, Con... |
OMIM:210740 |
| 6Q25 Microdeletion Syndrome |
|
Wide nasal bridge, Plagiocephaly, Failure to thrive, Long philtrum, Camptodactyly of finger, Exte... |
ORPHA:251056 |
| Ruijs-Aalfs Syndrome |
|
Premature graying of hair, Hypogonadism, Bulbous nose, Elbow flexion contracture, Micrognathia, P... |
OMIM:616200 |
| Chromosome 13Q33-Q34 Deletion Syndrome |
|
Micrognathia, Open mouth, Irregular dentition, Cryptorchidism, Agenesis of corpus callosum, Encep... |
OMIM:619148 |
| Insulin Autoimmune Syndrome |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Reactive hypoglycemia, Nonketotic hypogl... |
ORPHA:411593 |
| Cronkhite-Canada Syndrome |
|
Alopecia, Dystrophic toenail, Sparse body hair, Abnormal fingernail morphology, Furrowed tongue, ... |
ORPHA:2930 |
| Intellectual Disability-Strabismus Syndrome |
|
Joint contracture of the hand, Limitation of joint mobility, Micrognathia, Cryptorchidism, Hypopl... |
ORPHA:363528 |
| Neu-Laxova Syndrome |
|
Osteomalacia, Abnormal hair morphology, Cerebral calcification, Micrognathia, Everted lower lip v... |
ORPHA:2671 |
| Noonan Syndrome 4 |
|
Depressed nasal bridge, Sparse eyebrow, High anterior hairline, Dental malocclusion, Macrocephaly... |
OMIM:610733 |
| Florid Cemento-Osseous Dysplasia |
|
Abnormal cementum morphology, Abnormal trabecular bone morphology, Periapical bone loss, Mandibul... |
ORPHA:83451 |
| Methylcobalamin Deficiency Type Cble |
|
Increased mean corpuscular volume, Failure to thrive, Hypoplasia of the brainstem, Pancytopenia, ... |
ORPHA:2169 |
| Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Joint contracture of the hand, Micrognathia, Genu valgum, Cryptorchidism, Dislocated radial head,... |
OMIM:182212 |
| 46,Xx Ovotesticular Difference Of Sex Development |
|
Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno... |
ORPHA:2138 |
| Imagawa-Matsumoto Syndrome |
|
Polymicrogyria, Umbilical hernia, Hypertrichosis, Melanocytic nevus, Cryptorchidism, Wide nasal r... |
OMIM:618786 |
| Trichorhinophalangeal Syndrome, Type I |
|
Carious teeth, Micrognathia, Pear-shaped nose, Thin nail, Short metacarpal, Osteopenia, Bulbous n... |
OMIM:190350 |
| Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Abnormality of the dentition, Conical tooth, Small scrotum, Depressed nasal bridge, Coronal crani... |
ORPHA:228390 |
| Cleidocranial Dysplasia |
|
Hypoplastic scapulae, Carious teeth, Open bite, Micrognathia, Large fontanelles, Genu valgum, Dec... |
ORPHA:1452 |
| Intellectual Developmental Disorder, Autosomal Dominant 26 |
|
Wide nasal bridge, Depressed nasal bridge, Highly arched eyebrow, Kyphosis, Arthrogryposis multip... |
OMIM:615834 |
| Harrod Syndrome |
|
Cerebral cortical atrophy, Dental malocclusion, Failure to thrive, Hypopigmented skin patches, Na... |
ORPHA:2115 |
| Radio-Tartaglia Syndrome |
|
Small nail, Micrognathia, Agenesis of corpus callosum, Prominent nasal tip, Long eyebrows, High p... |
OMIM:619312 |
| Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Fasting hypoglycemia, Hypoinsulinemia, Neonatal hypoglycemia, Hypoglycemia |
OMIM:240900 |
| Intellectual Disability, Buenos-Aires Type |
|
Wide nasal bridge, Abnormal calvaria morphology, Mandibular prognathia, Cuboid-shaped thoracolumb... |
ORPHA:3079 |
| Fanconi Anemia, Complementation Group I |
|
Bone marrow hypocellularity, Absent thumb, Short 1st metacarpal, Short thumb, Decreased response ... |
OMIM:609053 |
| Fanconi Anemia, Complementation Group E |
|
Deficient excision of UV-induced pyrimidine dimers in DNA, Absent thumb, Short thumb, Absent radi... |
OMIM:600901 |
| Beaulieu-Boycott-Innes Syndrome |
|
High anterior hairline, Carious teeth, Dental malocclusion, Velopharyngeal insufficiency, Microgn... |
OMIM:613680 |
| Schwartz-Jampel Syndrome, Type 1 |
|
Joint contracture of the hand, Pursed lips, Micrognathia, Narrow mouth, Hip contracture, Generali... |
OMIM:255800 |
| Microcephaly 5, Primary, Autosomal Recessive |
|
Small cerebral cortex, Highly arched eyebrow, Flat occiput, Hypoplasia of the corpus callosum, Ag... |
OMIM:608716 |
| Fanconi Anemia, Complementation Group A |
|
Deficient excision of UV-induced pyrimidine dimers in DNA, Absent thumb, Short thumb, Male infert... |
OMIM:227650 |
| Neuropathy, Congenital Hypomyelinating, 3 |
|
Arthrogryposis multiplex congenita, Retrognathia, Micrognathia, Gingival overgrowth, Thick vermil... |
OMIM:618186 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 1 |
|
Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Micr... |
OMIM:614039 |
| Muenke Syndrome |
|
Coronal craniosynostosis, Capitate-hamate fusion, Plagiocephaly, Dental malocclusion, Short middl... |
OMIM:602849 |
| Hao-Fountain Syndrome |
|
Premature adrenarche, Delayed cranial suture closure, Trigonocephaly, Large fontanelles, Cryptorc... |
OMIM:616863 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Wide nasal bridge, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase con... |
OMIM:614886 |
| Cantu Syndrome |
|
Wide nasal bridge, Depressed nasal bridge, Platyspondyly, Long philtrum, Thick lower lip vermilio... |
OMIM:239850 |
| Ataxia-Telangiectasia |
|
Abnormality of chromosome stability, Elevated circulating hepatic transaminase concentration, Apl... |
ORPHA:100 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Small nail, Cryptorchidism, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Hepat... |
OMIM:301056 |
| Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies |
|
Hyperglycemia, Glucose intolerance |
OMIM:307500 |
| Macs Syndrome |
|
Micrognathia, Irregular dentition, Cryptorchidism, Decreased body weight, High palate, Sparse hai... |
OMIM:613075 |
| Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Abnormality of the dentition, High anterior hairline, Carious teeth, Dental malocclusion, Velopha... |
ORPHA:363444 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Lambdoidal craniosynostosis, Open mouth, High palate, Patent ductus arteriosus, Short nose, Osteo... |
OMIM:615398 |
| Leishmaniasis |
|
Abnormal oral mucosa morphology, Elevated circulating hepatic transaminase concentration, Pancyto... |
ORPHA:507 |
| Fanconi Anemia, Complementation Group P |
|
Absent thumb, Short thumb, Bulbous nose, Pancytopenia, Micrognathia, Vitiligo, Cryptorchidism, Mi... |
OMIM:613951 |
| Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
Cerebral cortical atrophy, Tooth malposition, Depressed nasal bridge, Furrowed tongue, Micrognath... |
ORPHA:1387 |
| Robinow Syndrome |
|
Flared nostrils, Tooth malposition, Small scrotum, Small nail, Ankyloglossia, Marked delay in eru... |
ORPHA:97360 |
| Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies |
|
Cerebral atrophy, Hypoplasia of the brainstem, Bulbous nose, Prominent nose, Anteverted nares, Ab... |
OMIM:618492 |
| Agammaglobulinemia 8B, Autosomal Recessive |
|
Depressed nasal bridge, Recurrent pneumonia, Everted upper lip vermilion, B Acute Lymphoblastic L... |
OMIM:619824 |
| Lessel-Kreienkamp Syndrome |
|
Wide nasal bridge, Plagiocephaly, Dental malocclusion, Scaphocephaly, Open mouth, Thin upper lip ... |
OMIM:619149 |
| Aminopterin Syndrome Sine Aminopterin |
|
Highly arched eyebrow, Joint contracture of the hand, Short thumb, Umbilical hernia, Frontal boss... |
OMIM:600325 |
| Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypoglycemia |
ORPHA:366 |
| 7Q11.23 Microduplication Syndrome |
|
Micrognathia, Short lingual frenulum, Cryptorchidism, Short neck, High palate, Hypospadias, Paten... |
ORPHA:96121 |
| Isolated Glycerol Kinase Deficiency |
|
Adrenocortical hypoplasia, Cryptorchidism, Hyperlordosis, Osteoporosis, Scoliosis |
ORPHA:408 |
| Van Maldergem Syndrome 1 |
|
Micrognathia, Irregular dentition, Hypoplasia of the corpus callosum, Radial head subluxation, Hi... |
OMIM:601390 |
| Lissencephaly, X-Linked, 2 |
|
Wide nasal bridge, Long philtrum, Decreased testicular size, Micrognathia, Prominent nasal bridge... |
OMIM:300215 |
| Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Delayed eruption of teeth, Failure to thrive, Hypogonadism, Small placenta, Micrognathia, Low ant... |
ORPHA:73272 |
| Microcephalic Primordial Dwarfism, Montreal Type |
|
Carious teeth, Premature graying of hair, Open bite, Micrognathia, Alopecia of scalp, Cryptorchid... |
ORPHA:2617 |
| Apert Syndrome |
|
Lambdoidal craniosynostosis, Delayed epiphyseal ossification, Synostosis of carpal bones, Delayed... |
OMIM:101200 |
| Chromosome 16Q22 Deletion Syndrome |
|
Wide nasal bridge, Depressed nasal bridge, Highly arched eyebrow, Failure to thrive, Frontal boss... |
OMIM:614541 |
| Turnpenny-Fry Syndrome |
|
Small hand, Narrow mouth, Hypoplasia of the corpus callosum, Decreased body weight, Prominent nas... |
OMIM:618371 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Secondary microcephaly, Micrognathia, Cryptorchidism, Hypoplasia of the corpus callosum, Agenesis... |
OMIM:620073 |
| Recombinant Chromosome 8 Syndrome |
|
Abnormality of the dentition, Depressed nasal bridge, Joint contracture of the hand, Downturned c... |
OMIM:179613 |
| Maxillonasal Dysplasia, Binder Type |
|
Depressed nasal bridge, Short distal phalanx of finger, Dental malocclusion, Short columella, Pat... |
OMIM:155050 |
| Gaucher Disease Type 1 |
|
Gingival bleeding, Hepatosplenomegaly, Pancytopenia, Hypersplenism, Cirrhosis, Hepatomegaly, Oste... |
ORPHA:77259 |
| Fanconi Anemia, Complementation Group F |
|
Pneumonia, Bone marrow hypocellularity, Absent thumb, Failure to thrive, Microphallus, Short thum... |
OMIM:603467 |
| Cri-Du-Chat Syndrome |
|
Wide nasal bridge, Bifid uvula, Microretrognathia, Downturned corners of mouth, Thick lower lip v... |
OMIM:123450 |
| Radial-Renal Syndrome |
|
Chromosome breakage |
OMIM:179280 |
| Cerebrooculofacioskeletal Syndrome 3 |
|
Micrognathia, Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly, Arthrogryposis mu... |
OMIM:616570 |
| Cerebellar-Facial-Dental Syndrome |
|
Inferior cerebellar vermis hypoplasia, Hypoplasia of the pons, Micrognathia, Cryptorchidism, Hypo... |
ORPHA:444072 |
| Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Depressed nasal bridge, Highly arched eyebrow, Retrognathia, Micrognathia, Hypoplasia of the corp... |
OMIM:618142 |
| Potocki-Shaffer Syndrome |
|
Broad nasal tip, Downturned corners of mouth, Underdeveloped nasal alae, Parietal foramina, Depre... |
ORPHA:52022 |
| Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Wide nasal bridge, Highly arched eyebrow, Joint contracture of the hand, Kyphosis, Retrognathia, ... |
ORPHA:352490 |
| Zimmermann-Laband Syndrome 3 |
|
Facial hypertrichosis, Small nail, Absent toenail, High palate, Patent ductus arteriosus, Absent ... |
OMIM:618658 |
| Robinow Syndrome, Autosomal Dominant 3 |
|
Micrognathia, Cryptorchidism, Short neck, Patent ductus arteriosus, Short nose, Cleft lip, Downtu... |
OMIM:616894 |
| Cockayne Syndrome B |
|
Carious teeth, Dry hair, Limitation of joint mobility, Abnormal hair morphology, Basal ganglia ca... |
OMIM:133540 |
| Chondroectodermal Dysplasia With Night Blindness |
|
Platyspondyly, Osteopenia, Hyperconvex toenail, Fractures of the long bones, Abnormal hair morpho... |
ORPHA:319195 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Hepatomegaly, Hypoglycemia |
OMIM:615158 |
| Osteogenesis Imperfecta, Type Xii |
|
Generalized osteoporosis, Dentinogenesis imperfecta, Depressed nasal bridge, Hypermobility of int... |
OMIM:613849 |
| Urban-Rogers-Meyer Syndrome |
|
Camptodactyly of finger, Hypogonadism, Obesity, Micrognathia, Prominent nasal bridge, Cryptorchid... |
ORPHA:3409 |
| Ventriculomegaly And Arthrogryposis |
|
Micrognathia, Agenesis of corpus callosum, Cerebellar hypoplasia, Arthrogryposis multiplex congen... |
OMIM:619501 |
| Dyskeratosis Congenita |
|
Carious teeth, Periodontitis, Hypopigmented skin patches, White hair, Premature graying of hair, ... |
ORPHA:1775 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Hypoplasia of the pons, Cerebral atrophy, Prominent nose, Micrognathia, Thoracic scoliosis, Cereb... |
OMIM:616171 |
| Osteopathia Striata With Cranial Sclerosis |
|
Joint contracture of the hand, Natal tooth, Fibular aplasia, Micrognathia, Large fontanelles, Hig... |
OMIM:300373 |
| Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Open mouth, Cryptorchidism, Hypoplasia of the corpus callosum, Hypospadias, Patent ductus arterio... |
ORPHA:500159 |
| Immunodeficiency 109 With Lymphoproliferation |
|
Pancytopenia, Splenomegaly, Recurrent sinusitis, Absent circulating B cells, Generalized lymphade... |
OMIM:620282 |
| Desmosterolosis |
|
Micrognathia, Narrow mouth, Agenesis of corpus callosum, Patent ductus arteriosus, Short nose, Ab... |
ORPHA:35107 |
| Sim1-Related Prader-Willi-Like Syndrome |
|
Premature adrenarche, Small scrotum, Small hand, Absence of pubertal development, Type II diabete... |
ORPHA:398079 |
| Fanconi Anemia, Complementation Group D1 |
|
Bone marrow hypocellularity, T-cell acute lymphoblastic leukemias, Failure to thrive, Short thumb... |
OMIM:605724 |
| Emanuel Syndrome |
|
Tooth malposition, Micrognathia, Cryptorchidism, Agenesis of corpus callosum, High palate, Patent... |
ORPHA:96170 |
| Perrault Syndrome 6 |
|
Irregular menstruation, Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Hypopl... |
OMIM:617565 |
| Aggressive Systemic Mastocytosis |
|
Decreased liver function, Pathologic fracture, Hepatosplenomegaly, Pancytopenia, Hypersplenism, L... |
ORPHA:98850 |
| Primary Myelofibrosis |
|
Abnormal bone marrow cell morphology, Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytope... |
ORPHA:824 |
| Lymphoproliferative Syndrome, X-Linked, 2 |
|
Aplastic anemia, Hemophagocytosis, Hepatitis, Pancytopenia, Splenomegaly, Hepatomegaly, Recurrent... |
OMIM:300635 |
| Autoinflammatory-Pancytopenia Syndrome |
|
Cholestatic liver disease, Hepatic fibrosis, Type I diabetes mellitus, Hemophagocytosis, Failure ... |
OMIM:619858 |
| Lethal Osteosclerotic Bone Dysplasia |
|
Depressed nasal ridge, Retrognathia, Delayed cranial suture closure, Anteverted nares, Micrognath... |
ORPHA:1832 |
| Adenylosuccinate Lyase Deficiency |
|
Flat occiput, Long philtrum, Anteverted nares, Hypointensity of cerebral white matter on MRI, Thi... |
ORPHA:46 |
| Mulibrey Nanism |
|
Hepatomegaly, Cachexia, Wide nasal bridge, Macrocephaly |
ORPHA:2576 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 35 |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Narrow mouth, Cryptorchidism... |
OMIM:300998 |
| Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Sparse body hair, Non-obstructive azoospermia, Absence of pubertal development, Cryptorchidism, I... |
ORPHA:432 |
| Craniosynostosis 6 |
|
Plagiocephaly, Lateral ventricle dilatation, Right unilambdoid synostosis, Delayed cranial suture... |
OMIM:616602 |
| Fetal Gaucher Disease |
|
Depressed nasal bridge, Arthrogryposis multiplex congenita, Abnormality of the spleen, Pancytopen... |
ORPHA:85212 |
| Alpha-Mannosidosis, Infantile Form |
|
Abnormality of the sphenoid sinus, Hepatosplenomegaly, Pancytopenia, Genu valgum, Short neck, Ost... |
ORPHA:309282 |
| Lissencephaly Syndrome, Norman-Roberts Type |
|
Wide nasal bridge, Abnormal calvaria morphology, Microretrognathia, Cerebral calcification, Promi... |
ORPHA:89844 |
| Premature Aging Syndrome, Penttinen Type |
|
Delayed cranial suture closure, Micrognathia, Aplasia of the nasal bone, Flexion contracture of f... |
OMIM:601812 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Extramedullary hematopoiesis, Hepatosplenomegaly, Micrognathia, Pancytopenia, Hepatomegaly, Cereb... |
OMIM:259720 |
| Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Non-obstructive azoospermia, Streak ovary, Cryptorchidism, Aplasia of the ovary, Primary amenorrh... |
ORPHA:2232 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Reduced natural killer cell count, Hepatic failure, Elevated circulating hepatic transaminase con... |
ORPHA:158057 |
| Spastic Paraplegia 18B, Autosomal Recessive |
|
Hypoplasia of the corpus callosum, Ankle clonus, Joint contracture, High palate, Scoliosis, Kyphosis |
OMIM:611225 |
| Immunodeficiency 69 |
|
Hemophagocytosis, Failure to thrive, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly... |
OMIM:618963 |
| Marden-Walker Syndrome |
|
Inferior cerebellar vermis hypoplasia, Joint contracture of the hand, Micrognathia, Narrow mouth,... |
OMIM:248700 |
| Au-Kline Syndrome |
|
Supernumerary nipple, Open mouth, Cryptorchidism, Thoracolumbar scoliosis, Lipomyelomeningocele, ... |
OMIM:616580 |
| Frank-Ter Haar Syndrome |
|
Delayed cranial suture closure, Micrognathia, Hypoplasia of the corpus callosum, Anterior concavi... |
OMIM:249420 |
| Larsen-Like Syndrome |
|
Dental malocclusion, Joint dislocation, Frontal bossing, Malar flattening, Absent nasal bridge, K... |
OMIM:608545 |
| Potocki-Shaffer syndrome |
|
Parietal foramina, Abnormality of the male genitalia, Delayed cranial suture closure |
DECIPHER:34 |
| Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities |
|
Tooth malposition, Plagiocephaly, Failure to thrive, Hypoplasia of the corpus callosum, Agenesis ... |
OMIM:618603 |
| Cockayne Syndrome A |
|
Carious teeth, Dry hair, Limitation of joint mobility, Basal ganglia calcification, Cryptorchidis... |
OMIM:216400 |
| Lissencephaly 4 |
|
Wide nasal bridge, Agenesis of corpus callosum, Cerebellar hypoplasia, Colpocephaly, Primary micr... |
OMIM:614019 |
| Mu-Heavy Chain Disease |
|
Abnormal bone marrow cell morphology, Abnormal B cell count, Splenomegaly, Hepatomegaly, Weight l... |
ORPHA:100024 |
| Amegakaryocytic Thrombocytopenia, Congenital, 1 |
|
Cerebellar vermis hypoplasia, Pancytopenia, Thrombocytopenia, Amegakaryocytic thrombocytopenia, M... |
OMIM:604498 |
| Trichothiodystrophy 9, Nonphotosensitive |
|
High, narrow palate, Sparse eyebrow, Dental malocclusion, Tiger tail banding, Nail dystrophy, Joi... |
OMIM:619692 |
| Bohring-Opitz Syndrome |
|
Supernumerary nipple, Micrognathia, Narrow mouth, Hypoplasia of the corpus callosum, Agenesis of ... |
OMIM:605039 |
| 19P13.3 Microduplication Syndrome |
|
Precocious puberty, Hip subluxation, Cerebral atrophy, Underdeveloped nasal alae, Prominent nose,... |
ORPHA:447980 |
| Ovarian Fibroma |
|
Abnormality of the ovary, Ovarian fibroma, Gonadal calcification |
ORPHA:314473 |
| Transcobalamin Deficiency |
|
Abnormality of chromosome stability, Lymphopenia, Pancytopenia, Megaloblastic bone marrow, Thromb... |
ORPHA:859 |
| Microcephaly 10, Primary, Autosomal Recessive |
|
Choanal atresia, Reduced cerebral white matter volume, Cerebral atrophy, Micrognathia, Prominent ... |
OMIM:615095 |
| Three M Syndrome 2 |
|
Short 5th finger, Depressed nasal bridge, Dental malocclusion, Delayed eruption of teeth, Long ph... |
OMIM:612921 |
| Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum |
|
Micrognathia, Narrow mouth, Agenesis of corpus callosum, Short neck, Short nose, Obesity, Long ey... |
OMIM:620250 |
| Gillessen-Kaesbach-Nishimura Syndrome |
|
Periportal fibrosis, Frontotemporal hypertrichosis, Retrognathia, Underdeveloped nasal alae, Abno... |
OMIM:263210 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Pancytopenia, Splenomegaly, Follicular hyperplasia, Hepatomegaly, Lymphocytosis, Neutropenia, Mon... |
OMIM:614470 |
| Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Leukoencephalopathy, Elevated circulating hepatic transaminase concentration, Hypogonadotropic hy... |
ORPHA:298 |
| Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Lateral ventricle dilatation, Cryptorchidism, Agenesis of corpus callosum, High palate, Cerebral ... |
OMIM:619244 |
| Hemochromatosis, Type 1 |
|
Alopecia, Elevated circulating hepatic transaminase concentration, Azoospermia, Pleural effusion,... |
OMIM:235200 |
| Neonatal Lupus Erythematosus |
|
Hepatic failure, Elevated circulating hepatic transaminase concentration, Aplastic anemia, Basal ... |
ORPHA:398124 |
| Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Midshaft hypospadias, Broad alveolar ridges, Wide nasal bridge, Delayed eruption of teeth, Tooth ... |
ORPHA:2863 |
| Rothmund-Thomson Syndrome Type 2 |
|
Carious teeth, Aplastic anemia, Alopecia totalis, Cryptorchidism, Patellar aplasia, Aplasia/hypop... |
ORPHA:221016 |
| 2Q32Q33 Microdeletion Syndrome |
|
Dental crowding, Long philtrum, Fine hair, Decreased testicular size, Anteverted nares, Micrognat... |
ORPHA:251019 |
| Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Micrognathia, Short neck, Abnormal bone ossification, High palate, Flat acetabular roof, Ovoid ve... |
ORPHA:163649 |
| Multiple Pterygium Syndrome, Escobar Variant |
|
Intercrural pterygium, Micrognathia, Narrow mouth, Cryptorchidism, Patellar aplasia, Dysplastic p... |
OMIM:265000 |
| Premature Ovarian Failure 10 |
|
Elevated circulating luteinizing hormone level, Decreased testicular size, Azoospermia, Hypothyro... |
OMIM:612885 |
| Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Lambdoidal craniosynostosis, Flat occiput, Hypoplasia of the pons, Lateral ventricle dilatation, ... |
OMIM:618736 |
| Fanconi Anemia, Complementation Group B |
|
Abnormal vertebral morphology, Bilateral radial aplasia, Abnormality of chromosome stability, Apl... |
OMIM:300514 |
| Rothmund-Thomson Syndrome, Type 2 |
|
Small hand, Sparse scalp hair, Premature graying of hair, Micrognathia, Cryptorchidism, Sparse ey... |
OMIM:268400 |
| Cofs Syndrome |
|
Wide nasal bridge, Cerebral cortical atrophy, Camptodactyly of finger, Hypogonadism, Cerebral cal... |
ORPHA:1466 |
| Ataxia-Pancytopenia Syndrome |
|
Acute myelomonocytic leukemia, Pancytopenia, Ankle clonus, Abnormal cerebral white matter morphol... |
OMIM:159550 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Abnormal T cell count, Hepatic failure, Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal... |
OMIM:308240 |
| Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Male hypogonadism, Elevated circulating hepatic transaminase concentration, Dental crowding, Micr... |
OMIM:615381 |
| Tetragametic Chimerism |
|
Clitoral hypertrophy, Bifid scrotum, Abnormality of the ovary, Abnormal scrotum morphology, Crypt... |
ORPHA:199310 |
| Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Wide nasal bridge, Depressed nasal bridge, Dental crowding, Downturned corners of mouth, Long phi... |
OMIM:615761 |
| 4Q21 Microdeletion Syndrome |
|
Abnormality of the dentition, Depressed nasal bridge, Small hand, Scoliosis, Downturned corners o... |
ORPHA:238750 |
| Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Lateral ventricle dilatation, Open mouth, Hypoplasia of the corpus callosum, Hypospadias, Patent ... |
OMIM:617751 |
| Transient Neonatal Diabetes Mellitus |
|
Maturity-onset diabetes of the young, Abnormal heart morphology, Hyperglycemia, Transient neonata... |
ORPHA:99886 |
| Prader-Willi Syndrome |
|
Premature adrenarche, Small scrotum, Small hand, Periodontitis, Central adrenal insufficiency, Cr... |
ORPHA:739 |
| Pseudohypoparathyroidism, Type Ia |
|
Depressed nasal bridge, Elevated circulating parathyroid hormone level, Delayed eruption of teeth... |
OMIM:103580 |
| Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Decreased helper T cell proportion, Pancytopenia, Splenomegaly, Hypersplenism |
OMIM:183350 |
| Rothmund-Thomson Syndrome |
|
Carious teeth, Aplastic anemia, Small nail, Alopecia totalis, Aplasia/Hypoplasia of the patella, ... |
ORPHA:2909 |
| Momo Syndrome |
|
Wide nasal base, Dental malocclusion, Delayed eruption of teeth, Long philtrum, Thick lower lip v... |
ORPHA:2563 |
| Werner Syndrome |
|
Small hand, Neoplasm of the oral cavity, Premature graying of hair, Slender build, Decreased fert... |
ORPHA:902 |
| Lissencephaly 3 |
|
Cerebellar vermis hypoplasia, Polymicrogyria, Hypoplasia of the brainstem, Hypoplasia of the corp... |
OMIM:611603 |
| Neurodevelopmental Disorder With Epilepsy And Brain Atrophy |
|
Cerebellar hypoplasia, Osteoporosis, Cortical dysplasia, Recurrent aspiration pneumonia, Mandibul... |
OMIM:619971 |
| Diencephalic Syndrome |
|
Long penis, Decreased body weight, Cachexia, Everted lower lip vermilion, Abnormality of the hypo... |
ORPHA:1672 |
| Satoyoshi Syndrome |
|
Abnormality of the uterus, Abnormality of the ovary, Amenorrhea, Hypoplasia of the ovary, Hypopla... |
ORPHA:3130 |
| Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Flared nostrils, Hypoplasia of the corpus callosum, Hypospadias, Patent ductus arteriosus, Sparse... |
ORPHA:487796 |
| Corpus Callosum Agenesis-Abnormal Genitalia Syndrome |
|
Cerebral cortical atrophy, Agenesis of corpus callosum, Generalized hirsutism, Microcephaly, Abno... |
ORPHA:2508 |
| Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Platyspondyly, Hypopigmentation of the skin, Albinism, Osteoporosis, Hypopigmentation of hair, Ky... |
ORPHA:2786 |
| Ck Syndrome |
|
Dental crowding, Retrognathia, Polymicrogyria, Slender build, Micrognathia, Prominent nasal bridg... |
OMIM:300831 |
| Desbuquois Dysplasia 1 |
|
Narrow mouth, Short neck, Advanced ossification of carpal bones, Flat acetabular roof, Genu varum... |
OMIM:251450 |
| Bryant-Li-Bhoj Neurodevelopmental Syndrome 1 |
|
Micrognathia, Open mouth, Narrow mouth, Agenesis of corpus callosum, Low posterior hairline, Ever... |
OMIM:619720 |
| Neurodevelopmental Disorder With Motor And Language Delay, Ocular Defects, And Brain Abnormalities |
|
Leukoencephalopathy, Bifid uvula, Retrognathia, Cerebral atrophy, Wide nose, Agenesis of corpus c... |
OMIM:620428 |
| Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia |
|
Dental malocclusion, Anteverted nares, High palate, Relative macrocephaly, Mandibular prognathia |
OMIM:618292 |
| Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Premature adrenarche, Small scrotum, Small hand, Decreased circulating T4 concentration, Central ... |
ORPHA:98754 |
| Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Micrognathia, Hip contracture, Protrusio acetabuli, Ankle flexion contracture, Hypoplasia of the ... |
OMIM:259600 |
| Propionic Acidemia |
|
Failure to thrive, Cerebral atrophy, Pancytopenia, Hepatomegaly, Pancreatitis, Neutropenia, Throm... |
OMIM:606054 |
| Congenital Bile Acid Synthesis Defect Type 1 |
|
Elevated circulating hepatic transaminase concentration, Failure to thrive, Neonatal cholestatic ... |
ORPHA:79301 |
| Borjeson-Forssman-Lehmann Syndrome |
|
Hypoplasia of the prostate, Shortening of all middle phalanges of the fingers, Short toe, Cervica... |
OMIM:301900 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Micrognathia, Decreased skull ossification, Short neck, Multiple prenatal fractures, Hypospadias,... |
OMIM:616897 |
| Chromosome 5P13 Duplication Syndrome |
|
Wide nasal bridge, Sparse hair, Scoliosis, Downturned corners of mouth, Bulbous nose, High palate... |
OMIM:613174 |
| Spondyloenchondrodysplasia |
|
Pneumonia, Short distal phalanx of finger, Platyspondyly, Dental malocclusion, Delayed eruption o... |
ORPHA:1855 |
| Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Congenital hip dislocation, Kyphosis, Delayed eruption of teeth, Cerebral atrophy, Thick lower li... |
OMIM:619797 |
| Carpenter Syndrome 1 |
|
Lambdoidal craniosynostosis, Joint contracture of the hand, Shallow acetabular fossae, Aplasia/Hy... |
OMIM:201000 |
| Multicentric Reticulohistiocytosis |
|
Cachexia, Histiocytosis, Arthritis |
ORPHA:139436 |
| Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Limitation of joint mobility, Joint hypermobility, Cachexia, Hyperlordosis, Flexion contracture, ... |
ORPHA:157973 |
| Usmani-Riazuddin Syndrome, Autosomal Recessive |
|
Joint hypermobility, Lumbar scoliosis, Agenesis of corpus callosum, Pectus excavatum, High palate |
OMIM:619548 |
| X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Increased serum serotonin, Depressed nasal bridge, Kyphosis, Hirsutism, Congenital bilateral hip ... |
ORPHA:85288 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Tooth malposition, Basal ganglia calcification, Cerebral calcification, Micrognathia, Narrow mout... |
ORPHA:2785 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Premature adrenarche, Small scrotum, Small hand, Decreased circulating T4 concentration, Central ... |
ORPHA:177901 |
| Perrault Syndrome 2 |
|
Amenorrhea, Streak ovary |
OMIM:614926 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Pancytopenia, Autoimmune thrombocytopenia, Chronic neutropenia, Vitiligo, Autoimmune hemolytic an... |
OMIM:614700 |
| Chromosome 3Q13.31 Deletion Syndrome |
|
Plagiocephaly, Decreased testicular size, Cryptorchidism, Agenesis of corpus callosum, Brachyceph... |
OMIM:615433 |
| Alexander Disease Type I |
|
Failure to thrive, Focal T2 hyperintense basal ganglia lesion, Progressive macrocephaly, Cachexia... |
ORPHA:363717 |
| Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Premature adrenarche, Small scrotum, Small hand, Decreased circulating T4 concentration, Central ... |
ORPHA:98793 |
| Cornelia De Lange Syndrome 2 |
|
Highly arched eyebrow, Small hand, Downturned corners of mouth, Anteverted nares, Micrognathia, P... |
OMIM:300590 |
| Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Choanal atresia, Type I diabetes mellitus, Hepatitis, Failure to thrive in infancy, Acute hepatic... |
ORPHA:228426 |
| Dominant Beta-Thalassemia |
|
Reduced hemoglobin A, Hyperplasia of the maxilla, Extramedullary hematopoiesis, Persistence of he... |
ORPHA:231226 |
| Odontochondrodysplasia 1 |
|
Genu recurvatum, Dentinogenesis imperfecta, Mesomelia, Platyspondyly, Biconvex vertebral bodies, ... |
OMIM:184260 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Premature adrenarche, Small scrotum, Small hand, Decreased circulating T4 concentration, Central ... |
ORPHA:177904 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Carious teeth, Aplastic anemia, Premature graying of hair, Lymphopenia, Cirrhosis, Sparse hair, A... |
OMIM:127550 |
| Griscelli Syndrome Type 2 |
|
Iris hypopigmentation, Hemophagocytosis, Premature graying of hair, Partial albinism, Pancytopeni... |
ORPHA:79477 |
| Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Pigmentary retinopathy, Failure to thrive, Hepatomegaly, Osteoporosis, Macrovesicular hepatic ste... |
OMIM:618234 |
| Dyskeratosis Congenita, X-Linked |
|
Carious teeth, Premature graying of hair, Pancytopenia, Cryptorchidism, Sparse eyelashes, Acute m... |
OMIM:305000 |
| Ovarian Dysgenesis 3 |
|
Elevated circulating luteinizing hormone level, Female infertility, Aplasia of the ovary, Elevate... |
OMIM:614324 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Osteopenia, Toenail dysplasia, Dental crowding, Short toe, Long philtrum, Short 5th metacarpal, A... |
OMIM:617877 |
| Sotos Syndrome |
|
Small nail, Genu valgum, Cryptorchidism, Increased body weight, High palate, Patent ductus arteri... |
OMIM:117550 |
| Phelan-Mcdermid Syndrome |
|
Wide nasal bridge, Toenail dysplasia, Dental malocclusion, Long philtrum, Widely spaced teeth, Bu... |
OMIM:606232 |
| Mucopolysaccharidosis, Type Iva |
|
Carious teeth, Hypoplasia of the odontoid process, Genu valgum, Short neck, Anterior beaking of l... |
OMIM:253000 |
| Lissencephaly, X-Linked, 1 |
|
Agenesis of corpus callosum, Micropenis, Pachygyria, Agyria, Lissencephaly |
OMIM:300067 |
| Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Decreased proportion of memory B cells, Pulmonary hemorrhage, Hepatosplenomegaly, Pancytopenia, H... |
ORPHA:79124 |
| Cleft Palate, Isolated |
|
Micrognathia, Anterior open-bite malocclusion, Gingival overgrowth, Increased overbite, Cleft palate |
OMIM:119540 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Lambdoidal craniosynostosis, Exaggerated median tongue furrow, Supernumerary nipple, Open bite, O... |
ORPHA:453504 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Lambdoidal craniosynostosis, Exaggerated median tongue furrow, Supernumerary nipple, Open bite, O... |
ORPHA:352665 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Hypoplasia of the brainstem, Agenesis of corpus callosum, Cerebellar hypoplasia, Thrombocytopenia... |
OMIM:619302 |
| Riboflavin Transporter Deficiency |
|
Iris hypopigmentation, Cerebral cortical atrophy, Hypogonadism, Cachexia, Diabetes insipidus |
ORPHA:97229 |
| Magel2-Related Prader-Willi-Like Syndrome |
|
Small scrotum, Small hand, Absence of pubertal development, Type II diabetes mellitus, Cryptorchi... |
ORPHA:398069 |
| Autoinflammation With Infantile Enterocolitis |
|
Reduced natural killer cell count, Diffuse alveolar hemorrhage, Failure to thrive, Pancytopenia, ... |
OMIM:616050 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
|
Cryptorchidism, Short neck, Hyperextensibility of the finger joints, High, narrow palate, Sparse ... |
OMIM:309583 |
| Martin-Probst Syndrome |
|
Wide nasal bridge, Dental malocclusion, Bifid scrotum, Thick lower lip vermilion, Umbilical herni... |
OMIM:300519 |
| Sialidosis Type 2 |
|
Abnormal bone marrow cell morphology, Umbilical hernia, Splenomegaly, Hepatomegaly, Osteoporosis,... |
ORPHA:87876 |
| Williams-Beuren Region Duplication Syndrome |
|
Cerebellar vermis hypoplasia, Small for gestational age, Broad nasal tip, Failure to thrive, Dias... |
OMIM:609757 |
| Coffin-Lowry Syndrome |
|
Thick nasal septum, Open mouth, Decreased body weight, Everted lower lip vermilion, High palate, ... |
OMIM:303600 |
| Gaucher Disease, Type Iii |
|
Pancytopenia, Splenomegaly, Decreased body weight, Thrombocytopenia, Hepatomegaly |
OMIM:231000 |
| Premature Ovarian Failure 6 |
|
Elevated circulating luteinizing hormone level, Female infertility, Streak ovary, Elevated circul... |
OMIM:612310 |
| Premature Ovarian Failure 2B |
|
Abnormality of the dentition, Female infertility, Delayed puberty, Primary amenorrhea, Osteoporos... |
OMIM:300604 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 2 |
|
Bone marrow hypocellularity, Aplastic anemia, Premature graying of hair, Pancytopenia, Cirrhosis,... |
OMIM:614743 |
| Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies |
|
Mandibular prognathia, Sparse eyebrow, Frontal bossing, Short columella, Scaphocephaly, Agenesis ... |
OMIM:619989 |
| Premature Ovarian Failure 9 |
|
Elevated circulating luteinizing hormone level, Amenorrhea, Hypoplasia of the ovary, Elevated cir... |
OMIM:615724 |
| Immunodeficiency 16 |
|
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly |
OMIM:615593 |
| Rothmund-Thomson Syndrome Type 1 |
|
Carious teeth, Aplastic anemia, Alopecia totalis, Cryptorchidism, Patellar aplasia, Neutropenia, ... |
ORPHA:221008 |
| Shwachman-Diamond Syndrome |
|
Carious teeth, Aplastic anemia, Abnormal joint morphology, Hypopituitarism, Pancytopenia, Oral ul... |
ORPHA:811 |
| Primary Condylar Hyperplasia |
|
Abnormal mandible condylar process morphology, Macrodontia, Anterior open-bite malocclusion, Abno... |
ORPHA:477781 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Cirrhosis, Weight loss, Hepatomegaly, Hypogonadotropic hypogonadism, Chronic hepatic failure, Ame... |
ORPHA:465508 |
| Fryns-Smeets-Thiry Syndrome |
|
Downturned corners of mouth, Thick lower lip vermilion, Narrow nasal bridge, Micrognathia, Promin... |
ORPHA:2058 |
| Ring Chromosome 10 Syndrome |
|
Wide nasal bridge, Long philtrum, Micrognathia, Cachexia, Short neck, Thin vermilion border, Pect... |
ORPHA:1438 |
| Frontometaphyseal Dysplasia 1 |
|
Partial fusion of carpals, Carpal synostosis, Genu valgum, Limited elbow movement, Absent frontal... |
OMIM:305620 |
| Desmosterolosis |
|
Hypoplastic nasal bridge, Joint contracture of the hand, Aplasia/Hypoplasia of the corpus callosu... |
OMIM:602398 |
| Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Wide nasal bridge, Limitation of joint mobility, Wrist swelling, Downturned corners of mouth, Car... |
ORPHA:2774 |
| Intellectual Developmental Disorder, Autosomal Dominant 65 |
|
Wide nasal bridge, Sparse hair, Downturned corners of mouth, Long philtrum, Thick upper lip vermi... |
OMIM:619320 |
| Fanconi Anemia, Complementation Group T |
|
Bone marrow hypocellularity, Short thumb, Pancytopenia, Acute myeloid leukemia, Chromosomal break... |
OMIM:616435 |
| Osteogenesis Imperfecta |
|
Carious teeth, Enlarged vertebral pedicles, Micrognathia, Large fontanelles, Genu valgum, Decreas... |
ORPHA:666 |
| Glycogen Storage Disease Vi |
|
Hepatomegaly, Hypoglycemia |
OMIM:232700 |
| Prader-Willi Syndrome |
|
Small scrotum, Small hand, Carious teeth, Hyperinsulinemia, Genu valgum, Type II diabetes mellitu... |
OMIM:176270 |
| Desmoplastic Small Round Cell Tumor |
|
Hepatomegaly, Cachexia, Weight loss, Lymphadenopathy, Testicular neoplasm, Abnormal peritoneum mo... |
ORPHA:83469 |
| Myopathy, Myofibrillar, 8 |
|
Dental malocclusion, Micrognathia, Joint contracture of the 5th finger, Joint hypermobility, Dist... |
OMIM:617258 |
| Proteus Syndrome |
|
Pulmonary cyst, Carious teeth, Open mouth, Generalized hirsutism, Cachexia, Pulmonary bulla, Calv... |
ORPHA:744 |
| Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hepatic fibrosis, Osteopenia, Portal fibrosis, Elevated circulating hepatic transaminase concentr... |
ORPHA:369 |
| Premature Ovarian Failure 18 |
|
Irregular menstruation, Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, ... |
OMIM:619203 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Small scrotum, Cholestasis, Slender build, Cerebral calcification, Pancytopenia, Hepatic steatosi... |
OMIM:613658 |
| Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Rhizomelia, Thrombocytopenia, Agenesis of corpus callosum |
OMIM:166990 |
| Nijmegen Breakage Syndrome |
|
Acute leukemia, Abnormal hair morphology, Cachexia, Short neck, Non-midline cleft of the upper li... |
ORPHA:647 |
| Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome |
|
Dental malocclusion, Underdeveloped nasal alae, Widely spaced teeth, Malar flattening, Bone spicu... |
OMIM:616108 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Delayed cranial suture closure, Micrognathia, Large fontanelles, Cryptorchidism, Humeroradial syn... |
OMIM:151050 |
| Even-Plus Syndrome |
|
Depressed nasal ridge, Bifid nasal tip, Highly arched eyebrow, Agenesis of corpus callosum, Dyspl... |
OMIM:616854 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Recurrent aspiration pneumonia, Small for gestational age, Basal ganglia necrosis, Lateral ventri... |
ORPHA:79243 |
| N Syndrome |
|
Abnormality of chromosome stability |
OMIM:310465 |
| Braddock-Carey Syndrome 1 |
|
Wide nasal bridge, Small hand, Anteverted nares, Curly hair, Agenesis of corpus callosum, Microce... |
OMIM:619980 |
| Wolf-Hirschhorn Syndrome |
|
Abnormal vertebral morphology, Micrognathia, Cryptorchidism, Agenesis of corpus callosum, Low pos... |
ORPHA:280 |
| Shashi-Pena Syndrome |
|
Highly arched eyebrow, Reduced cerebral white matter volume, Broad nasal tip, Retrognathia, Kypho... |
OMIM:617190 |
| Osteogenesis Imperfecta, Type Xiii |
|
Platyspondyly, Dentinogenesis imperfecta, Long philtrum, Umbilical hernia, Long eyelashes, Recurr... |
OMIM:614856 |
| Beta-Thalassemia Major |
|
Reduced hemoglobin A, Hyperplasia of the maxilla, Extramedullary hematopoiesis, Persistence of he... |
ORPHA:231214 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 2 |
|
Abnormally low T cell receptor excision circle level, Bone marrow hypocellularity, Hepatic fibros... |
OMIM:617341 |
| Fetal Akinesia Deformation Sequence 4 |
|
Wide nasal bridge, Retrognathia, 11 pairs of ribs, Micrognathia, Cryptorchidism, Neonatal death, ... |
OMIM:618393 |
| Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Bone marrow hypocellularity, Oral leukoplakia, Cerebral calcification, Pancytopenia, Nail dystrop... |
OMIM:613987 |
| Kabuki Syndrome 2 |
|
Short 5th finger, Highly arched eyebrow, Broad nasal tip, Natal tooth, Dental malocclusion, Spars... |
OMIM:300867 |
| 19P13.12 Microdeletion Syndrome |
|
Cryptorchidism, Hypoplasia of the corpus callosum, Hepatic steatosis, Generalized hirsutism, Shor... |
ORPHA:254346 |
| Frontonasal Dysplasia 2 |
|
Alopecia totalis, Encephalocele, Hypoplasia of the corpus callosum, Aplasia of the nasal bone, Sp... |
OMIM:613451 |
| Trichothiodystrophy |
|
Carious teeth, Cryptorchidism, Neutropenia, Brittle hair, Split nail, Cerebral dysmyelination, Hi... |
ORPHA:33364 |
| Clark-Baraitser syndrome |
|
Genu recurvatum, Broad nasal tip, Exaggerated median tongue furrow, Thick lower lip vermilion, Fr... |
OMIM:300602 |
| Congenital Myopathy 22A, Classic |
|
Wide nasal bridge, Spinal rigidity, Dental crowding, Scaphocephaly, Micrognathia, Open mouth, Kne... |
OMIM:620351 |
| Fanconi Anemia, Complementation Group O |
|
Chromosome breakage, Absent thumb, Short thumb, External genital hypoplasia, Cryptorchidism, Neon... |
OMIM:613390 |
| Hatipoglu Immunodeficiency Syndrome |
|
Hyperpigmented/hypopigmented macules, Failure to thrive, Fair hair, Premature graying of hair, Pa... |
OMIM:620331 |
| Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies |
|
Wide nasal bridge, Highly arched eyebrow, Retrognathia, Long philtrum, Failure to thrive, Flexion... |
OMIM:617452 |
| Lissencephaly 7 With Cerebellar Hypoplasia |
|
Downturned corners of mouth, Micrognathia, Agenesis of corpus callosum, Cerebellar hypoplasia, Mi... |
OMIM:616342 |
| Houge-Janssens Syndrome 2 |
|
Abnormal hair whorl, Plagiocephaly, Anteverted nares, Tented upper lip vermilion, Open mouth, Hyp... |
OMIM:616362 |
| Acute Promyelocytic Leukemia |
|
Gingival bleeding, Epistaxis, Diffuse alveolar hemorrhage, Pancytopenia, Gingival overgrowth, Leu... |
ORPHA:520 |
| Aids Wasting Syndrome |
|
Cachexia, Weight loss, Abnormal gonadotropin-releasing hormone concentration |
ORPHA:90081 |
| Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Slender build, Cachexia, Weight loss, Abnormal cerebral white matter morphology |
OMIM:613662 |
| Momo Syndrome |
|
Wide nasal bridge, Dental malocclusion, Delayed eruption of teeth, Long philtrum, Thick lower lip... |
OMIM:157980 |
| Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome |
|
Aplasia/Hypoplasia of the corpus callosum, Cryptorchidism, Decreased body weight, Short neck, Hig... |
ORPHA:505237 |
| Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Thick upper lip vermilion, Narrow mouth, Short lingual frenulum, Hypoplasia of the corpus callosu... |
OMIM:617360 |
| Cutis Laxa, Autosomal Recessive, Type Iib |
|
Congenital hip dislocation, Osteopenia, Failure to thrive, Long philtrum, Bulbous nose, Large fon... |
OMIM:612940 |
| Ritscher-Schinzel Syndrome 4 |
|
Wide nasal bridge, Narrow palate, Premature anterior fontanel closure, Plagiocephaly, Thick vermi... |
OMIM:619435 |
| Pseudopseudohypoparathyroidism |
|
Depressed nasal bridge, Delayed eruption of teeth, Obesity, Pseudohypoparathyroidism, Short neck,... |
OMIM:612463 |
| Trisomy 18 |
|
Choanal atresia, Microretrognathia, Aplasia/Hypoplasia of the corpus callosum, Abnormal morpholog... |
ORPHA:3380 |
| Autosomal Dominant Severe Congenital Neutropenia |
|
Pneumonia, Osteopenia, Periodontitis, Aplastic anemia, Leukemia, Lymphopenia, Recurrent aphthous ... |
ORPHA:486 |
| Frontonasal Dysplasia 1 |
|
Wide nasal bridge, Cranium bifidum occultum, Hypoplasia of the maxilla, Broad nasal tip, Bifid na... |
OMIM:136760 |
| Lymphoproliferative Syndrome 2 |
|
Recurrent pneumonia, Aplastic anemia, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Splenom... |
OMIM:615122 |
| Immunodeficiency 105 |
|
Reduced natural killer cell count, Absence of lymph node germinal center, Lymphopenia, Hepatosple... |
OMIM:619924 |
| Hypergonadotropic Hypogonadism-Cataract Syndrome |
|
Secondary growth hormone deficiency, Absence of secondary sex characteristics, Decreased fertilit... |
ORPHA:2410 |
| Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Retrognathia, Hypogonadism, Narrow mouth, Microcephaly, Brachycephaly, High palate |
ORPHA:2528 |
| Craniofrontonasal Syndrome |
|
Cryptorchidism, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Low posterior hai... |
OMIM:304110 |
| Pontocerebellar Hypoplasia, Type 2E |
|
Failure to thrive, Cerebral atrophy, Secondary microcephaly, Micrognathia, Hypoplasia of the corp... |
OMIM:615851 |
| Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Cerebellar hypoplasia, Agenesis of corpus callosum, Primary microcephaly, Polymicrogyria |
ORPHA:171703 |
| Epilepsy, Progressive Myoclonic, 9 |
|
Microglossia, Short thumb, Agenesis of corpus callosum, Scoliosis, Simplified gyral pattern |
OMIM:616540 |
| Chromosome 14Q11-Q22 Deletion Syndrome |
|
Micrognathia, Narrow mouth, Cryptorchidism, Hypoplasia of the corpus callosum, Agenesis of corpus... |
OMIM:613457 |
| Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Mandibular prognathia, Thick eyebrow, Thin upper lip vermilion, Low posterior hairline, Everted l... |
ORPHA:2429 |
| Lujan-Fryns Syndrome |
|
Abnormality of the dentition, Hypoplasia of the maxilla, Dental crowding, Aplasia/Hypoplasia of t... |
ORPHA:776 |
| Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Microcytic anemia, Elbow flexion contracture, Hepatosplenomegaly, Pancytopenia, Knee flexion cont... |
OMIM:604416 |
| Fanconi Anemia, Complementation Group L |
|
Wide nasal bridge, Chromosome breakage, Bone marrow hypocellularity, Absent thumb, Hypoplastic sa... |
OMIM:614083 |
| Majeed Syndrome |
|
Abnormal bone marrow cell morphology, Failure to thrive, Osteomyelitis, Leukocytosis, Splenomegal... |
ORPHA:77297 |
| Developmental And Epileptic Encephalopathy 88 |
|
Depressed nasal bridge, Inferior cerebellar vermis hypoplasia, Hypoplasia of the pons, Progressiv... |
OMIM:618959 |
| Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Arthrogryposis multiplex congenita, Hypoplasia of the pons, Micrognathia, Large fontanelles, Narr... |
OMIM:619512 |
| Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Abnormality of the dentition, Short distal phalanx of finger, Dental malocclusion, Scoliosis, Man... |
ORPHA:1858 |
| Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Increased mean corpuscular volume, Cerebral atrophy, Secondary microcephaly, Pancytopenia, Cerebe... |
OMIM:613839 |
| 46,Xx Gonadal Dysgenesis |
|
Decreased serum estradiol, Osteopenia, Sparse pubic hair, Aplasia/hypoplasia of the uterus, Gonad... |
ORPHA:243 |
| Pontocerebellar Hypoplasia, Type 14 |
|
Hypoplasia of the pons, Hypoplasia of the brainstem, Agenesis of corpus callosum, Cerebellar hypo... |
OMIM:619301 |
| Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Male hypogonadism, Abnormality of the Leydig cells, Azoospermia, Ovarian cyst, Hypogonadotropic h... |
OMIM:228300 |
| Smith-Kingsmore Syndrome |
|
Open mouth, Cryptorchidism, Hypoplasia of the corpus callosum, Curly hair, Short nose, Megalencep... |
OMIM:616638 |
| Gm1 Gangliosidosis |
|
Aspiration pneumonia, Hepatosplenomegaly, Narrow mouth, Abnormal scrotum morphology, Generalized ... |
ORPHA:354 |
| Mucopolysaccharidosis, Type Ivb |
|
Carious teeth, Hypoplasia of the odontoid process, Genu valgum, Hepatomegaly, Ovoid vertebral bod... |
OMIM:253010 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Small hand, Cryptorchidism, Hypoplasia of the corpus callosum, Short foot, Hypospadias, Polymicro... |
OMIM:300354 |
| Short Syndrome |
|
Wide nasal bridge, Dental malocclusion, Delayed eruption of teeth, Downturned corners of mouth, I... |
OMIM:269880 |
| Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Unilateral cleft lip, Delayed cranial suture closure, Narrow nasal bridge, Abnormality of the wri... |
ORPHA:2511 |
| Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1 |
|
Micrognathia, Cryptorchidism, Thin upper lip vermilion, Microcephaly, Smooth philtrum, Brachyceph... |
OMIM:615419 |
| Tbck-Related Intellectual Disability Syndrome |
|
Central adrenal insufficiency, Cryptorchidism, Hypoplasia of the corpus callosum, Short neck, Hig... |
ORPHA:488632 |
| Geroderma Osteodysplasticum |
|
Periodontitis, Abnormal hair morphology, Beaking of vertebral bodies, Recurrent lower respiratory... |
OMIM:231070 |
| Opitz Gbbb Syndrome |
|
Natal tooth, Ankyloglossia, Micrognathia, Large fontanelles, Cryptorchidism, Hypoplasia of the co... |
ORPHA:2745 |
| Masa Syndrome |
|
Agenesis of corpus callosum, Microcephaly, Hyperlordosis, Macrocephaly, Kyphosis |
OMIM:303350 |
| Sub-Cortical Nodular Heterotopia |
|
Abnormal cerebral cortex morphology, Polymicrogyria, Abnormal basal ganglia morphology, Hypoplasi... |
ORPHA:101029 |
| Myopathy, Centronuclear, X-Linked |
|
Elevated circulating hepatic transaminase concentration, Dental malocclusion, Cryptorchidism, Mac... |
OMIM:310400 |
| Coffin-Siris Syndrome |
|
Wide nasal base, Sparse scalp hair, Small nail, Aspiration pneumonia, Hypoplastic fifth fingernai... |
ORPHA:1465 |
| Auriculocondylar Syndrome 1 |
|
Mandibular condyle aplasia, Dental malocclusion, Dental crowding, Micrognathia, Narrow mouth, Ant... |
OMIM:602483 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 12 |
|
Wide nasal bridge, Dysgenesis of the basal ganglia, Cryptorchidism, Exaggerated cupid's bow, Agen... |
OMIM:620316 |
| Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Arthrogryposis multiplex congenita, Retrognathia, Cerebral atrophy, Micrognathia, Cryptorchidism,... |
OMIM:611890 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Depressed nasal bridge, Small hand, Kyphosis, Hirsutism, Microcephaly, Short foot, Scoliosis, Hip... |
OMIM:300434 |
| Kleefstra Syndrome |
|
Limitation of joint mobility, Supernumerary nipple, Cryptorchidism, Agenesis of corpus callosum, ... |
ORPHA:261494 |
| Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
|
Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Thoracic kyphoscoliosis, High pal... |
ORPHA:481152 |
| Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Depressed nasal ridge, Anteverted nares, Generalized hyperpigmentation, Narrow mouth, Abnormal or... |
ORPHA:1355 |
| Noonan Syndrome 13 |
|
Micrognathia, Cryptorchidism, Low posterior hairline, Generalized hirsutism, Short neck, High pal... |
OMIM:619087 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Abnormally low T cell receptor excision circle level, Recurrent pneumonia, Lymphadenitis, Lymphop... |
OMIM:618986 |
| Mitochondrial Myopathy And Sideroblastic Anemia |
|
Long philtrum, Micrognathia, Microcephaly, Distichiasis, Delayed puberty, Anemia, High palate, Sc... |
ORPHA:2598 |
| Premature Ovarian Failure 8 |
|
Elevated circulating luteinizing hormone level, Streak ovary, Elevated circulating follicle stimu... |
OMIM:615723 |
| Potocki-Shaffer Syndrome |
|
Wide nasal bridge, Downturned corners of mouth, Underdeveloped nasal alae, Parietal foramina, Spa... |
OMIM:601224 |
| Infantile Osteopetrosis With Neuroaxonal Dysplasia |
|
Pneumonia, Increased skull ossification, Cerebral atrophy, Agenesis of corpus callosum, Partial a... |
ORPHA:85179 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Flared nostrils, Wide nasal bridge, Long philtrum, Cerebral atrophy, Anteverted nares, Basal gang... |
OMIM:312170 |
| Chudley-Mccullough Syndrome |
|
Polymicrogyria, Hypoplasia of the corpus callosum, Cerebellar hypoplasia, Dysplastic corpus callo... |
OMIM:604213 |
| Cockayne Syndrome |
|
Carious teeth, Dry hair, Basal ganglia calcification, Cerebral calcification, Absence of pubertal... |
ORPHA:191 |
| Classic Galactosemia |
|
Hepatic failure, Elevated circulating hepatic transaminase concentration, Cryptorchidism, Prematu... |
ORPHA:79239 |
| Camurati-Engelmann Disease |
|
Carious teeth, Limitation of joint mobility, Slender build, Genu valgum, Cachexia, Hepatomegaly, ... |
ORPHA:1328 |
| Bannayan-Riley-Ruvalcaba Syndrome |
|
Uterine neoplasm, Irregular hyperpigmentation, Long philtrum, Anteverted nares, Micrognathia, Thy... |
ORPHA:109 |
| Müllerian Aplasia And Hyperandrogenism |
|
Abnormality of the ovary, Hypoplasia of the uterus, Abnormal vagina morphology, Primary amenorrhea |
ORPHA:247768 |
| Pseudohypoparathyroidism, Type Ic |
|
Depressed nasal bridge, Elevated circulating parathyroid hormone level, Delayed eruption of teeth... |
OMIM:612462 |
| Seckel Syndrome |
|
Tooth agenesis, Abnormal dental enamel morphology, Micrognathia, Joint hypermobility, Microcephal... |
ORPHA:808 |
| Foxg1 Syndrome |
|
Abnormal corpus callosum morphology, Hypoplasia of the corpus callosum, Agenesis of corpus callos... |
ORPHA:561854 |
| Hjv Or Hamp-Related Hemochromatosis |
|
Elevated circulating hepatic transaminase concentration, Abnormality of endocrine pancreas physio... |
ORPHA:79230 |
| Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Sparse hair, Plagiocephaly, Scoliosis, Failure to thrive, Long philtrum, Frontal bossing, Thoraci... |
OMIM:619721 |
| Propionic Acidemia |
|
Hepatomegaly, Cardiomyopathy, Hypoglycemia |
ORPHA:35 |
| Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Small hand, Secondary microcephaly, Micrognathia, Cryptorchidism, Limited elbow movement, Short n... |
OMIM:610759 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Atlantoaxial dislocation, Carious teeth, Micrognathia, Radioulnar synostosis, Beaking of vertebra... |
ORPHA:536467 |
| Dysostosis, Stanescu Type |
|
Carious teeth, Cerebral calcification, Short neck, Increased bone mineral density, Hypoplasia of ... |
ORPHA:1798 |
| Chromosome 6Pter-P24 Deletion Syndrome |
|
Narrow mouth, Frontal upsweep of hair, Agenesis of corpus callosum, Short neck, High palate, Pate... |
OMIM:612582 |
| Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Osteopenia, Type I diabetes mellitus, Carpal osteolysis, Abnormal form of the vertebral bodies, P... |
ORPHA:371428 |
| Smith-Magenis Syndrome |
|
Aplasia/Hypoplasia of the corpus callosum, Micrognathia, Open mouth, Delayed eruption of primary ... |
ORPHA:819 |
| Sweeney-Cox Syndrome |
|
Velopharyngeal insufficiency, Small nail, Micrognathia, Narrow mouth, Generalized hirsutism, High... |
OMIM:617746 |
| Infantile Systemic Hyalinosis |
|
Osteopenia, Aplasia/Hypoplasia of the thymus, Failure to thrive, Camptodactyly of finger, Microme... |
ORPHA:2176 |
| Mosaic Variegated Aneuploidy Syndrome 1 |
|
Micrognathia, Cryptorchidism, Agenesis of corpus callosum, Short neck, Leukemia, Hypospadias, Sho... |
OMIM:257300 |
| Congenital Disorder Of Glycosylation With Defective Fucosylation 2 |
|
Recurrent respiratory infections, Periventricular leukomalacia, Joint contracture, Agenesis of co... |
OMIM:618324 |
| Genitopatellar Syndrome |
|
Small scrotum, Clitoral hypertrophy, Sparse scalp hair, Delayed eruption of teeth, Long philtrum,... |
ORPHA:85201 |
| Intellectual Developmental Disorder, X-Linked 58 |
|
Short philtrum, Dental malocclusion, Small nail |
OMIM:300210 |
| Cerebellofaciodental Syndrome |
|
Macrodontia of permanent maxillary central incisor, Sparse eyebrow, Dental malocclusion, Hypoplas... |
OMIM:616202 |
| Microcephaly, Amish Type |
|
Cerebellar vermis hypoplasia, Failure to thrive, Small anterior fontanelle, Micrognathia, Cerebel... |
OMIM:607196 |
| 8P Inverted Duplication/Deletion Syndrome |
|
Frontal balding, Micrognathia, Cryptorchidism, Agenesis of corpus callosum, Short neck, Everted l... |
ORPHA:96092 |
| Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
|
Abnormal corpus callosum morphology, Failure to thrive, Cerebral atrophy, Periventricular cysts, ... |
ORPHA:255182 |
| Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency |
|
Arthrogryposis multiplex congenita, High palate, Dental malocclusion, Mandibular prognathia |
OMIM:608931 |
| Erythrokeratodermia Variabilis |
|
Alopecia, Irregular hyperpigmentation, Abnormal hair morphology, Patchy palmoplantar hyperkeratos... |
ORPHA:317 |
| Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Osteopenia, Umbilical hernia, Knee dislocation, Thin eyebrow, Micrognathia, Cryptorchidism, Thora... |
OMIM:618000 |
| Mantle Cell Lymphoma |
|
Abnormal bone marrow cell morphology, Weight loss, Splenomegaly, Lymphadenopathy |
ORPHA:52416 |
| Sandhoff Disease |
|
Failure to thrive, Splenomegaly, Macrocephaly, Hepatomegaly, Recurrent respiratory infections, Ky... |
ORPHA:796 |
| Pentasomy X |
|
Wide nasal bridge, Small hand, Plagiocephaly, Camptodactyly of finger, Micrognathia, Microcephaly... |
ORPHA:11 |
| Amelogenesis Imperfecta, Type Iiia |
|
Amelogenesis imperfecta, Dental malocclusion, Anterior open-bite malocclusion |
OMIM:130900 |
| Alg9-Cdg |
|
Delayed cranial suture closure, Micrognathia, Low posterior hairline, Short neck, Abnormal bone o... |
ORPHA:79328 |
| Craniofacial Dyssynostosis With Short Stature |
|
Brachyturricephaly, Frontal bossing, Cryptorchidism, Malar flattening, Hypoplasia of the corpus c... |
OMIM:218350 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Limitation of joint mobility, Delayed cranial suture closure, Large fontanelles, Cryptorchidism, ... |
ORPHA:2658 |
| Congenital Heart Defects And Ectodermal Dysplasia |
|
Depressed nasal bridge, High anterior hairline, Widely spaced teeth, Anteverted nares, Premature ... |
OMIM:617364 |
| Acute Panmyelosis With Myelofibrosis |
|
Bone marrow hypocellularity, Acute myelomonocytic leukemia, Abnormality of bone marrow stromal ce... |
ORPHA:86843 |
| Baraitser-Winter Syndrome 2 |
|
Highly arched eyebrow, Retrognathia, Long philtrum, Secondary microcephaly, Trigonocephaly, Agene... |
OMIM:614583 |
| Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Microretrognathia, Long philtrum, Abnormal palate morphology, Cachexia, Recurrent respiratory inf... |
ORPHA:1389 |
| Schizencephaly |
|
Cerebral cortical atrophy, Schizencephaly, Agenesis of corpus callosum |
OMIM:269160 |
| Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Wide nasal bridge, Diffuse white matter abnormalities, Hypoplasia of the maxilla, Respiratory tra... |
OMIM:218000 |
| Isolated Congenital Hypoglossia/Aglossia |
|
Aplasia/Hypoplasia of fingers, Microglossia, Aspiration pneumonia, Temporomandibular joint ankylo... |
ORPHA:141152 |
| Pseudodiastrophic Dysplasia |
|
Platyspondyly, Rhizomelia, Hypoplasia of the odontoid process, Failure to thrive, Elbow dislocati... |
OMIM:264180 |
| Odontotrichoungual-Digital-Palmar Syndrome |
|
Short distal phalanx of finger, Hypopigmentation of the skin, Natal tooth, Dental malocclusion, S... |
OMIM:601957 |
| Scheuermann Disease |
|
Osteochondrosis, Kyphosis, Morbus Scheuermann |
OMIM:181440 |
| Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome |
|
Wide nasal bridge, Cerebral cortical atrophy, Horizontal eyebrow, Downturned corners of mouth, Co... |
ORPHA:352530 |
| Fanconi Anemia, Complementation Group R |
|
Bone marrow hypocellularity, Absent thumb, Radial dysplasia, Agenesis of permanent teeth, Microce... |
OMIM:617244 |
| Hypogonadotropic Hypogonadism 21 With Or Without Anosmia |
|
Osteopenia, Cleft lip, Delayed puberty, Osteoporosis, Hyposmia |
OMIM:615271 |
| Oculocerebrocutaneous Syndrome |
|
Congenital hip dislocation, Alopecia, Cleft ala nasi, Cryptorchidism, Hypoplasia of the corpus ca... |
OMIM:164180 |
| Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Cerebellar vermis hypoplasia, Depressed nasal bridge, Small hand, Sparse scalp hair, Sparse eyebr... |
ORPHA:459061 |
| Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Recurrent pneumonia, Hypersegmentation of neutrophil nuclei, Lymphopenia, Pancytopenia, Macrocyti... |
OMIM:617780 |
| Aicardi-Goutieres Syndrome 9 |
|
Lateral ventricle dilatation, Basal ganglia calcification, Cerebral calcification, Hepatosplenome... |
OMIM:619487 |
| Extensor Tendons Of Finger Anomalies |
|
Osteoporosis, Limitation of joint mobility, Camptodactyly of finger |
ORPHA:3294 |
| Niemann-Pick Disease, Type A |
|
Failure to thrive, Sea-blue histiocytosis, Microcytic anemia, Elevated circulating aspartate amin... |
OMIM:257200 |
| Trisomy 20P |
|
Micrognathia, Cryptorchidism, Low posterior hairline, Short neck, Everted lower lip vermilion, Hy... |
ORPHA:261318 |
| Diabetes Mellitus, Permanent Neonatal, 4 |
|
Hyperglycemia, Type I diabetes mellitus, Diabetic ketoacidosis |
OMIM:618858 |
| Fanconi Anemia |
|
Aplasia/Hypoplasia of fingers, Hypopigmented skin patches, Aplasia/Hypoplasia of the uvula, Micro... |
ORPHA:84 |
| Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome |
|
Dental malocclusion, Broad columella, Diastema, Underdeveloped nasal alae, Micrognathia, Malar fl... |
ORPHA:436245 |
| Acrodysostosis 2 With Or Without Hormone Resistance |
|
Depressed nasal bridge, Mandibular prognathia, Fair hair, Spinal canal stenosis, Congenital hypot... |
OMIM:614613 |
| Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Wide anterior fontanel, Depressed nasal bridge, Downturned corners of mouth, Tracheomalacia, Ante... |
OMIM:217980 |
| D-Bifunctional Protein Deficiency |
|
Delayed cranial suture closure, Cholestasis, Micrognathia, Large fontanelles, Hepatic steatosis, ... |
OMIM:261515 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia6 |
|
Amelogenesis imperfecta, Enamel hypomineralization, Anterior open-bite malocclusion |
OMIM:617217 |
| Lateral Meningocele Syndrome |
|
Micrognathia, Cryptorchidism, Short neck, High palate, Patent ductus arteriosus, Biconcave verteb... |
OMIM:130720 |
| Glass Syndrome |
|
Micrognathia, Narrow mouth, Long nose, High palate, Sparse hair, Pierre-Robin sequence, Broad nas... |
OMIM:612313 |
| Carpenter Syndrome 2 |
|
Carious teeth, Supernumerary nipple, Narrow naris, Cryptorchidism, Short neck, High palate, Paten... |
OMIM:614976 |
| Endosteal Hyperostosis, Autosomal Dominant |
|
Sclerotic vertebral body, Metatarsal diaphyseal endosteal sclerosis, Dental malocclusion, Hyperos... |
OMIM:144750 |
| Acromesomelic Dysplasia, Maroteaux Type |
|
Depressed nasal bridge, Kyphosis, Abnormal form of the vertebral bodies, Vertebral wedging, Joint... |
ORPHA:40 |
| Acrodysostosis |
|
Open bite, Abnormal female external genitalia morphology, Open mouth, Cryptorchidism, Short metac... |
ORPHA:950 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Microcephaly, Failure to thrive, Cerebral atrophy, Agenesis of corpus callosum |
OMIM:274270 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Precocious puberty, Bifid uvula, Wide nasal bridge, Cleft upper lip, Bulbous nose, Anteverted nar... |
OMIM:300958 |
| Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Supernumerary nipple, Micrognathia, Hypoplasia of the corpus callosum, Low posterior hairline, Sh... |
OMIM:213980 |
| Beta-Thalassemia Intermedia |
|
Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Anemia of inadequa... |
ORPHA:231222 |
| Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Joint stiffness, Cachexia |
ORPHA:1216 |
| Mosaic Trisomy 1 |
|
Lateral ventricle dilatation, Small nail, Agenesis of corpus callosum, Hepatic agenesis, Cerebell... |
ORPHA:1692 |
| Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Hypoplasia of the pons, Narrow mouth, Cryptorchidism, Hypoplasia of the corpus callosum, Agenesis... |
ORPHA:468631 |
| 15Q24 Microdeletion Syndrome |
|
Wide nasal base, Small hand, Narrow mouth, Cryptorchidism, Hypospadias, Microphallus, Myelomening... |
ORPHA:94065 |
| Hyaline Fibromatosis Syndrome |
|
Osteopenia, Failure to thrive, Gingival overgrowth, Progressive flexion contractures, Osteoporosi... |
OMIM:228600 |
| Fanconi Anemia, Complementation Group G |
|
Abnormality of chromosome stability, Microcephaly, Anemia, Multiple cafe-au-lait spots, Thrombocy... |
OMIM:614082 |
| Clark-Baraitser Syndrome |
|
Depressed nasal bridge, Downturned corners of mouth, Long philtrum, Obesity, Anteverted nares, Ex... |
OMIM:617752 |
| Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Protruding tongue, Cryptorchidism, Agenesis of corpus callosum, Everted lower lip vermilion, Shor... |
ORPHA:96147 |
| O'Donnell-Luria-Rodan Syndrome |
|
Abnormal corpus callosum morphology, Cryptorchidism, Abnormal cerebral white matter morphology, M... |
OMIM:618512 |
| Perrault Syndrome 1 |
|
Gonadal dysgenesis, Primary amenorrhea, Increased circulating gonadotropin level, Osteoporosis, H... |
OMIM:233400 |
| Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Generalized osteoporosis, Hypopigmentation of the skin, Dental crowding, Failure to thrive, Limit... |
OMIM:236200 |
| 49,Xxxxy Syndrome |
|
Small scrotum, Carious teeth, Elbow dislocation, Open bite, Type II diabetes mellitus, Cryptorchi... |
ORPHA:96264 |
| Burkitt Lymphoma |
|
Abnormality of the ovary |
ORPHA:543 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Exaggerated median tongue furrow, Supernumerary nipple, Cryptorchidism, Agenesis of corpus callos... |
OMIM:312870 |
| Gaucher Disease, Type I |
|
Epistaxis, Pathologic fracture, Pancytopenia, Hypersplenism, Splenomegaly, Hepatomegaly, Hyperpig... |
OMIM:230800 |
| Tonne-Kalscheuer Syndrome |
|
Wide nasal bridge, Velopharyngeal insufficiency, Downturned corners of mouth, Widely spaced teeth... |
OMIM:300978 |
| Maturity-Onset Diabetes Of The Young, Type 13 |
|
Hyperglycemia, Maternal diabetes, Diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:616329 |
| Fanconi Anemia, Complementation Group V |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:617243 |
| Xfe Progeroid Syndrome |
|
Elevated circulating hepatic transaminase concentration, Failure to thrive, Premature ovarian ins... |
OMIM:610965 |
| Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Delayed cranial suture closure, Hypoplasia of the corpus callosum, Hepatomegaly, High palate, Sho... |
OMIM:619383 |
| Bone Dysplasia, Lethal Holmgren Type |
|
Depressed nasal ridge, Rhizomelia, Joint dislocation, Failure to thrive, Micromelia, Anteverted n... |
ORPHA:1842 |
| Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Abnormal CD4:CD8 ratio, Failure to thrive, Pancytopenia, Decreased proportion of CD4-positive hel... |
ORPHA:572 |
| Microphthalmia, Syndromic 2 |
|
Cryptorchidism, Hypoplasia of the corpus callosum, Decreased body weight, Laterally curved eyebro... |
OMIM:300166 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Hypoplasia of the maxilla, Dental crowding, Flexion contracture, Narrow nose, Narrow nasal bridge... |
OMIM:309520 |
| Lathosterolosis |
|
Intrahepatic cholestasis, Hepatic fibrosis, Long philtrum, Thick upper lip vermilion, Elevated ci... |
OMIM:607330 |
| Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Enlarged polycystic ovaries, Elevated circulating growth hormone concentration, Polycystic ovaries |
ORPHA:90301 |
| Opitz-Kaveggia Syndrome |
|
Joint contracture of the hand, Micrognathia, Frontal upsweep of hair, Cryptorchidism, Short neck,... |
OMIM:305450 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Osteopenia, Increased susceptibility to fractures, Joint hypermobility, Wormian bones, Isosexual ... |
ORPHA:2788 |
| Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Cachexia, Weight loss, Failure to thrive |
OMIM:612075 |
| Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus |
|
Hypoplasia of the odontoid process, Insulin-resistant diabetes mellitus, Genu valgum, Irregular t... |
OMIM:226980 |
| X-Linked Neurodegenerative Syndrome, Bertini Type |
|
Recurrent bronchopulmonary infections, Agenesis of corpus callosum |
ORPHA:85334 |
| Cantú Syndrome |
|
Low posterior hairline, Generalized hirsutism, Short neck, Short hallux, Patent ductus arteriosus... |
ORPHA:1517 |
| Pontocerebellar Hypoplasia, Type 3 |
|
High, narrow palate, Depressed nasal bridge, Reduced cerebral white matter volume, Hypoplasia of ... |
OMIM:608027 |
| Elsahy-Waters Syndrome |
|
High palate, Hypospadias, Wide nose, Hypoplasia of the maxilla, Impacted tooth, Bulbous nose, Thi... |
OMIM:211380 |
| German Syndrome |
|
Wide nasal bridge, Depressed nasal bridge, Limitation of joint mobility, Camptodactyly of finger,... |
ORPHA:2077 |
| X-Linked Intellectual Disability, Snyder Type |
|
Narrow mouth, Cryptorchidism, Everted lower lip vermilion, Cerebral edema, High palate, Hypospadi... |
ORPHA:3063 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Micrognathia, Narrow mouth, Genu valgum, Low posterior hairline, Radioulnar synostosis, Short nec... |
OMIM:245600 |
| 21Q22.11Q22.12 Microdeletion Syndrome |
|
Small nail, Agenesis of corpus callosum, Downturned corners of mouth, Failure to thrive in infanc... |
ORPHA:261323 |
| Martsolf Syndrome 1 |
|
Tooth malposition, Micrognathia, Cryptorchidism, Abnormal toenail morphology, Low posterior hairl... |
OMIM:212720 |
| Avascular Necrosis Of Femoral Head, Primary, 1 |
|
Generalized osteoporosis |
OMIM:608805 |
| Cartilage-Hair Hypoplasia |
|
Small hand, Short neck, Neutropenia, Abnormal bone ossification, Hepatomegaly, Sparse hair, Depre... |
ORPHA:175 |
| Trisomy 1Q |
|
Aplasia/Hypoplasia of the nails, Small scrotum, Depressed nasal bridge, Microretrognathia, Campto... |
ORPHA:261344 |
| Trichohepatoneurodevelopmental Syndrome |
|
Decreased body weight, Curly hair, Hepatomegaly, High palate, Short foot, Patent ductus arteriosu... |
OMIM:618268 |
| Warburg Micro Syndrome 3 |
|
Cerebral cortical atrophy, Small scrotum, Downturned corners of mouth, Polymicrogyria, Secondary ... |
OMIM:614222 |
| De Barsy Syndrome |
|
Narrow mouth, Cryptorchidism, High palate, Sparse hair, Patent ductus arteriosus, Cerebellar verm... |
ORPHA:2962 |
| Masa Syndrome |
|
Camptodactyly of finger, Agenesis of corpus callosum |
ORPHA:2466 |
| Spondyloepiphyseal Dysplasia Tarda |
|
Hypoplasia of the odontoid process, Limitation of joint mobility, Premature osteoarthritis, Barre... |
ORPHA:93284 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Recurrent pneumonia, Clitoral hypertrophy, Scoliosis, Retrognathia, Cerebral atrophy, Furrowed to... |
OMIM:616449 |
| X-Linked Intellectual Disability, Sutherland-Haan Type |
|
Hypoplasia of the maxilla, Decreased testicular size, Decreased body weight, Microcephaly, Brachy... |
ORPHA:93950 |
| Lymphoproliferative Syndrome 1 |
|
Hemophagocytosis, Pancytopenia, Leukopenia, Pleural effusion, Decreased proportion of CD4-positiv... |
OMIM:613011 |
| Chromosome 2P16.1-P15 Deletion Syndrome |
|
Joint contracture of the hand, Hypoplasia of the pons, Cryptorchidism, Hypoplasia of the corpus c... |
OMIM:612513 |
| Functioning Gonadotropic Adenoma |
|
Ovarian cyst, Oligozoospermia, Osteopenia, Decreased response to growth hormone stimulation test,... |
ORPHA:91348 |
| Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Broad jaw, Thickened calvaria, Brachycephaly, Macrocephaly, Craniosynostosis, Increased bone mine... |
ORPHA:178377 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Genu valgum, Micrognathia, Barrel-shaped chest, Limited elbow movement, Short neck, Flat acetabul... |
ORPHA:94068 |
| Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Plagiocephaly, Lateral ventricle dilatation, Frontal bossing, Bulbous nose, Oligodontia, Thin upp... |
OMIM:618330 |
| Pelizaeus-Merzbacher Disease |
|
Cerebral cortical atrophy, Failure to thrive in infancy, Joint stiffness, Microcephaly, Cachexia,... |
ORPHA:702 |
| Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2 |
|
Increased susceptibility to spontaneous sister chromatid exchange |
OMIM:618097 |
| Autosomal Recessive Spastic Paraplegia Type 67 |
|
Cerebral cortical atrophy, Aplasia/Hypoplasia of the cerebellar vermis, Agenesis of corpus callosum |
ORPHA:401820 |
| Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Anosmia, Osteopenia, Scoliosis, Diastema, Bicoronal synostosis, Agenesis of molar, Cryptorchidism... |
OMIM:619718 |
| Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Small for gestational age, Failure to thrive, Pancytopenia, Thin upper lip vermilion, Glossitis, ... |
OMIM:277380 |
| Acute Erythroid Leukemia |
|
Bone marrow hypocellularity, Pancytopenia, Leukopenia, Bone marrow hypercellularity, Erythroid hy... |
ORPHA:318 |
| ERI1-related disease |
|
Velopharyngeal insufficiency, Micrognathia, Decreased body weight, Patellar dislocation, Finger j... |
OMIM:608739 |
| Alpha-Mannosidosis, Adult Form |
|
Pneumonia, Cerebral cortical atrophy, Osteopenia, Hepatosplenomegaly, Pancytopenia, Macroglossia,... |
ORPHA:309288 |
| Gomez-Lopez-Hernandez Syndrome |
|
Cerebellar vermis hypoplasia, Alopecia, Skull asymmetry, Decreased response to growth hormone sti... |
OMIM:601853 |
| Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome |
|
Wide nasal bridge, Depressed nasal ridge, Plagiocephaly, Underdeveloped nasal alae, Micrognathia,... |
ORPHA:77300 |
| Menkes Disease |
|
Alopecia, Hypopigmentation of the skin, Joint hypermobility, Microcephaly, Brachycephaly, Wormian... |
OMIM:309400 |
| Cutis Laxa, Autosomal Recessive, Type Iiia |
|
Congenital hip dislocation, Scoliosis, Failure to thrive, Umbilical hernia, Narrow mouth, Cryptor... |
OMIM:219150 |
| Autosomal Recessive Spastic Paraplegia Type 69 |
|
Cerebral cortical atrophy, Aplasia/Hypoplasia of the cerebellar vermis, Agenesis of corpus callosum |
ORPHA:401830 |
| Coronary Artery Disease, Autosomal Dominant 2 |
|
Osteoporosis, Gout, Type II diabetes mellitus |
OMIM:610947 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Thoracolumbar kyphosis, Hepatic fibrosis, Cholelithiasis, Scoliosis, Abnormality of the spleen, H... |
ORPHA:2072 |
| Combined Oxidative Phosphorylation Deficiency 2 |
|
Elevated circulating hepatic transaminase concentration, Neonatal death, Agenesis of corpus callo... |
OMIM:610498 |
| Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies |
|
Depressed nasal bridge, Failure to thrive, Decreased response to growth hormone stimulation test,... |
OMIM:615286 |
| Amelogenesis Imperfecta |
|
Yellow-brown discoloration of the teeth, Widely spaced teeth, Enamel hypomineralization, Anterior... |
ORPHA:88661 |
| Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Clitoral hypertrophy, Small nail, Cholestasis, Hepatosplenomegaly, Micrognathia, Large fontanelle... |
OMIM:614866 |
| Al-Gazali-Bakalinova Syndrome |
|
Wide nasal bridge, Depressed nasal bridge, Genu valgum, Malar flattening, Hypoplasia of the corpu... |
OMIM:607131 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Delayed epiphyseal ossification, Lateral ventricle dilatation, Elbow dislocation, Micrognathia, C... |
OMIM:210710 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Bone marrow hypocellularity, Increased mean corpuscular volume, Megakaryocyte dysplasia, Pancytop... |
OMIM:619041 |
| Diastrophic Dysplasia |
|
Depressed nasal bridge, Joint dislocation, Elbow dislocation, Hypoplastic cervical vertebrae, Cam... |
ORPHA:628 |
| Bainbridge-Ropers Syndrome |
|
Inferior cerebellar vermis hypoplasia, Lateral ventricle dilatation, Supernumerary nipple, Microg... |
OMIM:615485 |
| Pachydermoperiostosis |
|
Small hand, Abnormal bone marrow cell morphology, Limitation of joint mobility, Palmoplantar kera... |
ORPHA:2796 |
| Joubert Syndrome 37 |
|
Wide nasal bridge, Cerebellar vermis hypoplasia, Decreased testicular size, Obesity, Anteverted n... |
OMIM:619185 |
| Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers |
|
Obesity, Oligodontia, Anodontia, Everted lower lip vermilion, Pectus excavatum, Scoliosis, Fronta... |
ORPHA:276630 |
| Immunodeficiency 49 |
|
Abnormally low T cell receptor excision circle level, Reduced cerebral white matter volume, Natal... |
OMIM:617237 |
| Coffin-Siris Syndrome 6 |
|
High, narrow palate, Depressed nasal bridge, Broad nasal tip, Plagiocephaly, Retrognathia, Microg... |
OMIM:617808 |
| Polymicrogyria Due To Tubb2B Mutation |
|
Abnormal corpus callosum morphology, Hypoplasia of the pons, Dysgenesis of the basal ganglia, Pol... |
ORPHA:300573 |
| Chédiak-Higashi Syndrome |
|
Gingival bleeding, Periodontitis, Hemophagocytosis, Atrophy of alveolar ridges, Hepatosplenomegal... |
ORPHA:167 |
| Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation |
|
Dental crowding, Cerebral atrophy, Hypoplasia of the corpus callosum, Low anterior hairline, Micr... |
ORPHA:320385 |
| Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Anosmia, Decreased testicular size, Absence of pubertal development, Obesity, Cryptorchidism, Hyp... |
OMIM:610628 |
| Spondylodysplastic Ehlers-Danlos Syndrome |
|
Abnormal vertebral morphology, Subluxation of the small joints of the hand, Micrognathia, Narrow ... |
ORPHA:536471 |
| Craniotelencephalic Dysplasia |
|
Frontal bossing, Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly, Frontal enceph... |
ORPHA:1528 |
| Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Depressed nasal bridge, Pulmonary cyst, Umbilical hernia, Sacral dimple, Large for gestational ag... |
OMIM:618272 |
| Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Open mouth, Cryptorchidism, Frontal upsweep of hair, Short neck, High palate, Short nose, Plagioc... |
ORPHA:369891 |
| Diabetes Mellitus, Transient Neonatal, 3 |
|
Transient neonatal diabetes mellitus, Hyperglycemia, Maternal diabetes |
OMIM:610582 |
| Treacher-Collins Syndrome |
|
Small scrotum, Open bite, Abnormal hair morphology, Micrognathia, Narrow mouth, Cryptorchidism, E... |
ORPHA:861 |
| Fg Syndrome Type 1 |
|
Aplasia/Hypoplasia of the corpus callosum, Slender build, Micrognathia, Open mouth, Cryptorchidis... |
ORPHA:93932 |
| Holoprosencephaly 9 |
|
Hypoplasia of the premaxilla, Cryptorchidism, Bilateral cleft palate, Short hard palate, Short ne... |
OMIM:610829 |
| Atypical Werner Syndrome |
|
Limitation of joint mobility, Insulin-resistant diabetes mellitus, Neoplasm of the oral cavity, S... |
ORPHA:79474 |
| Chloramphenicol Toxicity |
|
Aplastic anemia |
OMIM:515000 |
| Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Hyperglycemia |
OMIM:618970 |
| 2P15P16.1 Microdeletion Syndrome |
|
Supernumerary nipple, Narrow mouth, Prominent nasal tip, Everted lower lip vermilion, Patellar di... |
ORPHA:261349 |
| Craniofaciofrontodigital Syndrome |
|
Depressed nasal bridge, Osteopenia, Long philtrum, Hypertrichosis, Large for gestational age, Gin... |
ORPHA:363705 |
| 48,Xxxy Syndrome |
|
Small scrotum, Carious teeth, Elbow dislocation, Open bite, Type II diabetes mellitus, Cryptorchi... |
ORPHA:96263 |
| Koolen-De Vries Syndrome |
|
Aplasia/Hypoplasia of the corpus callosum, Cryptorchidism, Everted lower lip vermilion, Hypospadi... |
ORPHA:96169 |
| Gómez-López-Hernández Syndrome |
|
Cerebellar vermis hypoplasia, Toenail dysplasia, Anteverted nares, Alopecia of scalp, Turricephal... |
ORPHA:1532 |
| Acrocallosal Syndrome |
|
Everted upper lip vermilion, Aplasia/Hypoplasia of the corpus callosum, Narrow mouth, Open mouth,... |
OMIM:200990 |
| Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Kyphosis, Cerebral atrophy, Obesity, Lumbar hyperlordosis, Hypoplasia of the corpus callosum, Mic... |
OMIM:616756 |
| Fanconi-Like Syndrome |
|
Recurrent lower respiratory tract infections, Pancytopenia, Multiple bilateral pneumothoraces, Os... |
OMIM:227850 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Lateral ventricle dilatation, Male urethral meatus stenosis, Hypoplasia of the corpus callosum, A... |
ORPHA:464738 |
| Combined Oxidative Phosphorylation Deficiency 50 |
|
Adrenal insufficiency, Microcephaly, Partial agenesis of the corpus callosum |
OMIM:619025 |
| Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Joint stiffness, Cachexia |
ORPHA:1144 |
| Orofaciodigital Syndrome I |
|
Carious teeth, Dry hair, Ankyloglossia, Ovarian cyst, Agenesis of corpus callosum, High palate, S... |
OMIM:311200 |
| Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Depressed nasal bridge, Hypoplasia of the zygomatic bone, Retrognathia, Supernumerary nipple, Abn... |
ORPHA:1812 |
| Congenital Disorder Of Glycosylation, Type Iia |
|
Open mouth, Protruding tongue, Short neck, Everted lower lip vermilion, Sparse hair, Thoracolumba... |
OMIM:212066 |
| Rhizomelic Syndrome, Urbach Type |
|
Depressed nasal bridge, Short distal phalanx of finger, Rhizomelia, Kyphosis, Abnormal form of th... |
ORPHA:3098 |
| Bohring-Opitz Syndrome |
|
Limitation of joint mobility, Micrognathia, Hypoplasia of the corpus callosum, Agenesis of corpus... |
ORPHA:97297 |
| Progressive Nodular Histiocytosis |
|
Cachexia |
ORPHA:158022 |
| Baraitser-Winter Cerebrofrontofacial Syndrome |
|
Delayed cranial suture closure, Micrognathia, Large fontanelles, Low posterior hairline, Short ne... |
ORPHA:2995 |
| Pontocerebellar Hypoplasia, Type 11 |
|
Hypoplasia of the pons, Bulbous nose, Hypoplasia of the corpus callosum, Agenesis of corpus callo... |
OMIM:617695 |
| Dubowitz Syndrome |
|
Wide nasal bridge, Carious teeth, Aplastic anemia, Velopharyngeal insufficiency, Delayed eruption... |
OMIM:223370 |
| Diabetes And Deafness, Maternally Inherited |
|
Hyperglycemia, Type II diabetes mellitus, Cardiomyopathy |
OMIM:520000 |
| Intellectual Developmental Disorder, X-Linked 82 |
|
Scoliosis, Kyphosis |
OMIM:300518 |
| Sclerosteosis 1 |
|
Irregular menstruation, Tooth malposition, Wide nasal bridge, Depressed nasal bridge, Dental malo... |
OMIM:269500 |
| Fraser-Like Syndrome |
|
Ovarian cyst |
OMIM:229230 |
| Emanuel Syndrome |
|
Micrognathia, Cryptorchidism, Hypoplasia of the corpus callosum, Delayed eruption of primary teet... |
OMIM:609029 |
| Grant Syndrome |
|
Depressed nasal bridge, Joint dislocation, Open bite, Micrognathia, Large fontanelles, Abnormal c... |
ORPHA:2097 |
| Ring Chromosome 22 Syndrome |
|
Wide nasal base, Toenail dysplasia, Bulbous nose, Azoospermia, Thick eyebrow, Pleural effusion, P... |
ORPHA:1446 |
| Immunodeficiency 21 |
|
Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Osteomyelitis, Megakaryocyte nuc... |
OMIM:614172 |
| Apert Syndrome |
|
Large fontanelles, Agenesis of corpus callosum, Aplasia/Hypoplasia of the thumb, Cloverleaf skull... |
ORPHA:87 |
| Greig Cephalopolysyndactyly Syndrome |
|
Wide nasal bridge, Umbilical hernia, Agenesis of corpus callosum, Macrocephaly, Craniosynostosis,... |
ORPHA:380 |
| Stickler Syndrome |
|
Open bite, Slender build, Micrognathia, Genu valgum, Short hard palate, Cachexia, Hip dislocation... |
ORPHA:828 |
| Mosaic Trisomy 8 |
|
Broad nasal tip, Limitation of joint mobility, Arthrogryposis multiplex congenita, Hypopigmented ... |
ORPHA:96061 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating hepatic transaminase concentration, Decreased liver function, Hepatic steato... |
ORPHA:42 |
| Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypoglycemic seizures, Hyperinsulinemia, Atrial septal defect, Hypoglycemia |
OMIM:620211 |
| Dubowitz Syndrome |
|
Small hand, Aplasia/Hypoplasia of the corpus callosum, Abnormal female external genitalia morphol... |
ORPHA:235 |
| X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Genu recurvatum, Cerebellar vermis hypoplasia, Macrodontia of permanent maxillary central incisor... |
ORPHA:364028 |
| Pde4D Haploinsufficiency Syndrome |
|
Micrognathia, Cryptorchidism, Prominent nasal tip, Hypospadias, Short metacarpal, Short nose, Irr... |
ORPHA:439822 |
| Prader-Willi Syndrome Due To Translocation |
|
Small hand, Carious teeth, Lateral ventricle dilatation, Micrognathia, Short neck, Everted lower ... |
ORPHA:177907 |
| Ruvalcaba Syndrome |
|
Small hand, Dental crowding, Micromelia, Underdeveloped nasal alae, Kyphosis, Narrow nose, Limite... |
OMIM:180870 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Slender build, Open mouth, Cryptorchidism, Hypoplasia of the corpus callosum, Agenesis of corpus ... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Slender build, Open mouth, Cryptorchidism, Hypoplasia of the corpus callosum, Agenesis of corpus ... |
ORPHA:363958 |
| Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Delayed cranial suture closure, Cerebral calcification, Micrognathia, Large fontanelles, Flat occ... |
ORPHA:2780 |
| Corpus Callosum, Agenesis Of, With Abnormal Genitalia |
|
Cryptorchidism, Agenesis of corpus callosum, Low anterior hairline, Microcephaly, Hirsutism, Hype... |
OMIM:300004 |
| Griscelli Syndrome, Type 1 |
|
Silver-gray hair, Recurrent tonsillitis, Hypopigmentation of the skin, Melanin pigment aggregatio... |
OMIM:214450 |
| Dyskeratosis Congenita, Autosomal Dominant 6 |
|
Abnormality of the dentition, Bone marrow hypocellularity, Aplastic anemia, Oral leukoplakia, Pan... |
OMIM:616553 |
| Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities |
|
Cerebral cortical atrophy, Depressed nasal bridge, Failure to thrive, Micrognathia, Tented upper ... |
OMIM:620240 |
| Pulmonary Blastoma |
|
Recurrent pneumonia, Weight loss, Pleuropulmonary blastoma |
ORPHA:64741 |
| Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome |
|
Platyspondyly, Dentinogenesis imperfecta, Delayed eruption of teeth, Prominent nasal bridge, Oste... |
ORPHA:71267 |
| Intellectual Developmental Disorder, Autosomal Recessive 65 |
|
Supernumerary nipple, Bulbous nose, Prominent nasal bridge, Cryptorchidism, Hypoplasia of the cor... |
OMIM:618109 |
| Barber-Say Syndrome |
|
Velopharyngeal insufficiency, Micrognathia, Cryptorchidism, Sparse eyelashes, Hypoplastic labia m... |
OMIM:209885 |
| Acromelic Frontonasal Dysplasia |
|
Aplasia/Hypoplasia of the tibia, Bifid nasal tip, Hypoplasia of the olfactory bulb, Broad nasal t... |
ORPHA:1827 |
| Microcephaly, Growth Deficiency, Seizures, And Brain Malformations |
|
Depressed nasal bridge, Failure to thrive, Partial agenesis of the corpus callosum, Tented upper ... |
OMIM:618346 |
| Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Posterior plagiocephaly, Ankyloglossia, Micrognathia, Cryptorchidism, Agenesis of corpus callosum... |
OMIM:619841 |
| Cohen Syndrome |
|
Micrognathia, Open mouth, Cryptorchidism, Genu valgum, Neutropenia, High, narrow palate, Hypoplas... |
ORPHA:193 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Hepatic steatosis, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Cirrhosis, Pri... |
OMIM:619418 |
| Myoectodermal Gonadal Dysgenesis Syndrome |
|
Elevated circulating luteinizing hormone level, Frontal upsweep of hair, Agenesis of corpus callo... |
OMIM:618419 |
| Focal Dermal Hypoplasia |
|
Midclavicular aplasia, Supernumerary nipple, Absent toenail, Cryptorchidism, Agenesis of corpus c... |
OMIM:305600 |
| Isolated Corpus Callosum Agenesis |
|
Agenesis of corpus callosum |
ORPHA:200 |
| Immunodeficiency 60 And Autoimmunity |
|
Decreased proportion of memory B cells, Pancytopenia, Splenomegaly, Recurrent sinopulmonary infec... |
OMIM:618394 |
| Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
Bifid uvula, Recurrent pneumonia, Choanal atresia, Retrognathia, Bilateral cryptorchidism, Promin... |
OMIM:300472 |
| Hypogonadotropic Hypogonadism 9 With Or Without Anosmia |
|
Anosmia, Cleft lip, Hyposmia, Decreased testicular size, Hypogonadotropic hypogonadism, Bifid nos... |
OMIM:614838 |
| Myasthenic Syndrome, Congenital, 23, Presynaptic |
|
Agenesis of corpus callosum |
OMIM:618197 |
| Williams Syndrome |
|
Synostosis of joints, Carious teeth, Open bite, Micrognathia, Type II diabetes mellitus, Cryptorc... |
ORPHA:904 |
| Rhizomelic Limb Shortening With Dysmorphic Features |
|
Wide nasal bridge, Short 5th finger, Rhizomelia, Plagiocephaly, Short thumb, Long philtrum, Obesi... |
OMIM:618821 |
| Faciodigitogenital Syndrome, Autosomal Recessive |
|
Dental malocclusion, Anteverted nares, Prominent nasal bridge, Cryptorchidism, Brachycephaly, Dee... |
OMIM:227330 |
| Aicardi-Goutieres Syndrome 7 |
|
Pneumonia, Hepatitis, Cerebral atrophy, Intracerebral periventricular calcifications, Basal gangl... |
OMIM:615846 |
| Griscelli Syndrome, Type 2 |
|
Silver-gray hair, Hypopigmentation of the skin, Hemophagocytosis, Melanin pigment aggregation in ... |
OMIM:607624 |
| Fontaine Progeroid Syndrome |
|
Small scrotum, Small nail, Micrognathia, Narrow mouth, Protruding tongue, Hypoplasia of the corpu... |
OMIM:612289 |
| Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Secondary growth hormone deficiency, Abnormality of the dentition, Pigmentary retinopathy, Absenc... |
ORPHA:2235 |
| Distal Deletion 10Q |
|
Inferior cerebellar vermis hypoplasia, Lateral ventricle dilatation, Micrognathia, High palate, H... |
ORPHA:96148 |
| Hallermann-Streiff Syndrome |
|
Small hand, Natal tooth, Sparse body hair, Micrognathia, Narrow mouth, Cryptorchidism, Sparse eye... |
ORPHA:2108 |
| Wolman Disease |
|
Hepatic failure, Adrenal calcification, Adrenal insufficiency, Splenomegaly, Hepatomegaly, Cachex... |
ORPHA:75233 |
| Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Medial flaring of the eyebrow, Retrognathia, Hypertrichosis, Secondary microcephaly, Bulbous nose... |
OMIM:620113 |
| Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Hematocolpos, Abnormal female external genitalia morphology, Aplasia of the vagina, Polycystic ov... |
OMIM:277000 |
| Lissencephaly Due To Tuba1A Mutation |
|
Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Microretrognathia, Dysgenesis of the basal ... |
ORPHA:171680 |
| Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome |
|
Abnormality of the dentition, Joint stiffness, Aplasia/Hypoplasia of the lungs, Abnormal testis m... |
ORPHA:1548 |
| Stuve-Wiedemann Syndrome 1 |
|
Wide nasal base, Carious teeth, Short tibia, Pursed lips, Micrognathia, Short neck, Sparse hair, ... |
OMIM:601559 |
| Fraser Syndrome 1 |
|
Clitoral hypertrophy, Small nail, Aplasia/Hypoplasia of the sternum, Extension of hair growth on ... |
OMIM:219000 |
| Fetal Akinesia Syndrome, X-Linked |
|
Stillbirth, Agenesis of corpus callosum |
OMIM:300073 |
| Hypogonadotropic Hypogonadism 15 With Or Without Anosmia |
|
Small pituitary gland, Anosmia, Osteopenia, Decreased testicular size, Genu valgum, Cryptorchidis... |
OMIM:614880 |
| Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Depressed nasal bridge, Bulbous nose, Tented upper lip vermilion, Agenesis of corpus callosum, Mi... |
ORPHA:261144 |
| Osteogenesis Imperfecta, Type Iii |
|
Dentinogenesis imperfecta, Scoliosis, Micrognathia, Protrusio acetabuli, Bowing of limbs due to m... |
OMIM:259420 |
| Ornithine Transcarbamylase Deficiency |
|
Splenomegaly, Hypoglycemia |
ORPHA:664 |
| Osteoporosis |
|
Osteoporosis |
OMIM:166710 |
| Ovarian Dysgenesis 1 |
|
Increased circulating gonadotropin level, Primary amenorrhea, Osteoporosis, Gonadal dysgenesis |
OMIM:233300 |
| Nail-Patella Syndrome |
|
Toenail dysplasia, Contracture of the distal interphalangeal joint of the fingers, Patellar aplas... |
ORPHA:2614 |
| Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Secondary microcephaly, Micrognathia, Open mouth, Low posterior hairline, Everted lower lip vermi... |
OMIM:156200 |
| Mitochondrial Complex I Deficiency, Nuclear Type 16 |
|
Failure to thrive, Adrenal insufficiency, Agenesis of corpus callosum, Caudate atrophy, Scoliosis |
OMIM:618238 |
| Hypogonadotropic Hypogonadism 2 With Or Without Anosmia |
|
Choanal atresia, Anosmia, Osteopenia, Cleft upper lip, Tooth agenesis, Hyposmia, Cryptorchidism, ... |
OMIM:147950 |
| Celiac Disease, Susceptibility To, 1 |
|
Type I diabetes mellitus, Elevated circulating hepatic transaminase concentration, Rickets, Failu... |
OMIM:212750 |
| Lymphedema, Primary, With Myelodysplasia |
|
Leukemia, Pancytopenia, Acute myeloid leukemia, Decreased CD4:CD8 ratio |
OMIM:614038 |
| Schinzel-Giedion Syndrome |
|
Micrognathia, Streak ovary, Hypoplasia of the corpus callosum, Radioulnar synostosis, Hepatoblast... |
ORPHA:798 |
| Pearson Syndrome |
|
Pancytopenia, Hepatic steatosis, Neutropenia, Hypoparathyroidism, Hepatomegaly, Hypoplastic splee... |
ORPHA:699 |
| Malocclusion Due To Protuberant Upper Front Teeth |
|
Dental malocclusion |
OMIM:154300 |
| Lissencephaly 6 With Microcephaly |
|
Polymicrogyria, Widely spaced teeth, Bulbous nose, Anteverted nares, Hypoplasia of the corpus cal... |
OMIM:616212 |
| X-Linked Lissencephaly With Abnormal Genitalia |
|
Exocrine pancreatic insufficiency, Micrognathia, Cryptorchidism, Agenesis of corpus callosum, Mic... |
ORPHA:452 |
| Whipple Disease |
|
Pleuritis, Generalized hyperpigmentation, Splenomegaly, Hepatomegaly, Cachexia, Hypothyroidism, E... |
ORPHA:3452 |
| Monosomy 9P |
|
Limitation of joint mobility, Micrognathia, Narrow mouth, Cryptorchidism, Agenesis of corpus call... |
ORPHA:261112 |
| Localized Scleroderma |
|
Abnormality of the dentition, Abnormal facial skeleton morphology, Dental malocclusion, Abnormali... |
ORPHA:90289 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Irregular menstruation, Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transamin... |
ORPHA:264580 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Loose anagen hair, Failure to thrive, Multiple lentigines, Macrocephaly, Large for gestational ag... |
OMIM:607721 |
| Joubert Syndrome 18 |
|
Occipital encephalocele, Retrognathia, Trident pelvis, Agenesis of corpus callosum, Kyphoscoliosi... |
OMIM:614815 |
| Cranioectodermal Dysplasia 1 |
|
Anodontia, Everted lower lip vermilion, Thin nail, Hepatomegaly, High palate, Sparse hair, High, ... |
OMIM:218330 |
| Congenital Disorder Of Glycosylation, Type Il |
|
Depressed nasal bridge, Global brain atrophy, Kyphosis, Failure to thrive, Long philtrum, Cerebra... |
OMIM:608776 |
| Diabetes Mellitus, Permanent Neonatal, 1 |
|
Hyperglycemia, Type I diabetes mellitus, Diabetes mellitus |
OMIM:606176 |
| 1P36 Deletion Syndrome |
|
Delayed cranial suture closure, Abnormal female external genitalia morphology, Abnormality of the... |
ORPHA:1606 |
| Robinow Syndrome, Autosomal Recessive 1 |
|
Small hand, Small nail, Delayed cranial suture closure, Thoracic hemivertebrae, Micrognathia, Cry... |
OMIM:268310 |
| Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Cryptorchidism, Hypospadias, Patent ductus arteriosus, Short nose, Thin upper lip vermilion, Macr... |
OMIM:618316 |
| Mirror Movements 1 |
|
Agenesis of corpus callosum |
OMIM:157600 |
| Raine Syndrome |
|
Natal tooth, Arthrogryposis multiplex congenita, Cerebral calcification, Micrognathia, Narrow mou... |
OMIM:259775 |
| Monosomy 18P |
|
Wide nasal bridge, Tooth malposition, Alopecia, Carious teeth, Downturned corners of mouth, Micro... |
ORPHA:1598 |
| Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies |
|
Depressed nasal ridge, Small hand, Plagiocephaly, Downturned corners of mouth, Anteverted nares, ... |
OMIM:618672 |
| Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Generalized hirsutism, Microcephaly, Cerebral calcification, Cachexia |
ORPHA:1933 |
| Hereditary Folate Malabsorption |
|
Failure to thrive, Recurrent respiratory infections, Cerebral calcification, Pancytopenia, Eosino... |
ORPHA:90045 |
| Spondylometaphyseal Dysplasia, X-Linked |
|
Wide nasal bridge, Depressed nasal bridge, Platyspondyly, Abnormality of the nail, Short finger, ... |
OMIM:313420 |
| Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Depressed nasal bridge, Plagiocephaly, Failure to thrive, Long eyelashes, Micrognathia, Periventr... |
OMIM:619833 |
| Vici Syndrome |
|
Everted upper lip vermilion, Lymphopenia, Micrognathia, Decreased proportion of CD4-positive help... |
OMIM:242840 |
| Trichothiodystrophy 4, Nonphotosensitive |
|
Cerebral cortical atrophy, Retrognathia, Small nail, Trichorrhexis nodosa, Anteverted nares, Decr... |
OMIM:234050 |
| Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Small hand, Lateral ventricle dilatation, Type II lissencephaly, Abnormal basal ganglia morpholog... |
ORPHA:300570 |
| Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Congenital hip dislocation, Delayed eruption of teeth, Congenital hypothyroidism, Increased body ... |
OMIM:614450 |
| Fetal Trimethadione Syndrome |
|
Depressed nasal bridge, Micrognathia, Microcephaly, Brachycephaly, Ambiguous genitalia, High pala... |
ORPHA:1913 |
| Opitz Gbbb Syndrome |
|
Wide nasal bridge, Cerebellar vermis hypoplasia, Unilateral cleft lip, Cleft upper lip, Umbilical... |
OMIM:300000 |
| Bone Marrow Failure Syndrome 1 |
|
Bone marrow hypocellularity, Pancytopenia, Aplastic anemia |
OMIM:614675 |
| Schaaf-Yang Syndrome |
|
Small hand, Scoliosis, Arthrogryposis multiplex congenita, Retrognathia, Frontal bossing, Hypogon... |
OMIM:615547 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6 |
|
Abnormally low T cell receptor excision circle level, Bone marrow hypocellularity, Oral leukoplak... |
OMIM:619767 |
| Autosomal Recessive Cutis Laxa Type 2A |
|
Cerebellar vermis hypoplasia, Congenital hip dislocation, Long philtrum, Delayed cranial suture c... |
ORPHA:357058 |
| Amish Lethal Microcephaly |
|
Cerebellar vermis hypoplasia, Limitation of joint mobility, Micrognathia, Cleft soft palate, Agen... |
ORPHA:99742 |
| Beare-Stevenson Cutis Gyrata Syndrome |
|
Natal tooth, Small nail, Narrow mouth, Agenesis of corpus callosum, Hypoplastic labia majora, Hig... |
OMIM:123790 |
| Fanconi Anemia, Complementation Group Q |
|
Chromosome breakage |
OMIM:615272 |
| Mismatch Repair Cancer Syndrome 4 |
|
Multiple cafe-au-lait spots, Agenesis of corpus callosum |
OMIM:619101 |
| Progressive Pseudorheumatoid Arthropathy Of Childhood |
|
Joint contracture of the hand, Limitation of joint mobility, Genu valgum, Beaking of vertebral bo... |
ORPHA:1159 |
| Temtamy Syndrome |
|
Highly arched eyebrow, Dental crowding, Long philtrum, Micrognathia, Agenesis of corpus callosum,... |
OMIM:218340 |
| Wiedemann-Rautenstrauch Syndrome |
|
Sparse scalp hair, Natal tooth, Small nail, Micrognathia, Narrow mouth, Cryptorchidism, Agenesis ... |
OMIM:264090 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Micrognathia, Cryptorchidism, Decreased body weight, Hepatomegaly, High palate, Short nose, Plagi... |
OMIM:619005 |
| Summitt Syndrome |
|
Depressed nasal ridge, Plagiocephaly, Camptodactyly of finger, Obesity, Genu valgum, Prominent me... |
ORPHA:3210 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Leukoencephalopathy, Bone marrow hypocellularity, Osteopenia, Sparse hair, Scoliosis, Oral leukop... |
OMIM:612199 |
| Hemifacial Hyperplasia |
|
Hypoplasia of the maxilla, Dental malocclusion |
OMIM:133900 |
| Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Micrognathia, Frontal upsweep of hair, High palate, Patent ductus arteriosus, Short nose, Bulbous... |
OMIM:617061 |
| Idiopathic Bronchiectasis |
|
Emphysema, Respiratory tract infection, Cachexia, Acute infectious pneumonia, Recurrent lower res... |
ORPHA:60033 |
| Koolen-De Vries Syndrome |
|
Open mouth, Cryptorchidism, Hypoplasia of the corpus callosum, Pear-shaped nose, Everted lower li... |
OMIM:610443 |
| Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures |
|
Temporal cortical atrophy, Plagiocephaly, High anterior hairline, Hypoplasia of the corpus callos... |
OMIM:618862 |
| Fanconi Anemia, Complementation Group N |
|
Aplastic anemia, Absent thumb, Short thumb, Microcephaly, Short neck, Acute myeloid leukemia, Chr... |
OMIM:610832 |
| Chopra-Amiel-Gordon Syndrome |
|
Flared nostrils, High anterior hairline, Cleft lip, Thick nasal alae, Joint hypermobility, Thin u... |
OMIM:619504 |
| Immunodeficiency, Common Variable, 13 |
|
Pancytopenia, Acute lymphoblastic leukemia, B lymphocytopenia |
OMIM:616873 |
| Trigonocephaly-Short Stature-Developmental Delay Syndrome |
|
Wide nasal bridge, Multiple suture craniosynostosis, Secondary microcephaly, Broad secondary alve... |
ORPHA:3369 |
| Perrault Syndrome 4 |
|
Decreased serum estradiol, Obesity, Cubitus valgus, Hypoplasia of the ovary, Oligomenorrhea, Oste... |
OMIM:615300 |
| Lateral Meningocele Syndrome |
|
Craniofacial hyperostosis, Micrognathia, Cryptorchidism, Low posterior hairline, Short neck, High... |
ORPHA:2789 |
| Cerebrofacioarticular Syndrome |
|
Wide nasal bridge, Cerebellar vermis hypoplasia, Hypoplasia of the maxilla, Osteopenia, Caudal ap... |
ORPHA:314679 |
| Microsporidiosis |
|
Lymphadenitis, Abnormality of the spleen, Decreased proportion of CD4-positive helper T cells, Pr... |
ORPHA:2552 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Postprandial hyperglycemia, Insulin-resistant diabetes mellitus, Hypoglycemia, Hyperglycemia, Hyp... |
OMIM:262190 |
| Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Wide nasal bridge, Depressed nasal bridge, Pigmentary retinopathy, Elevated circulating hepatic t... |
OMIM:264470 |
| Neuroectodermal Melanolysosomal Disease |
|
Cerebral cortical atrophy, Hypopigmentation of the skin, Premature graying of hair, Generalized h... |
ORPHA:33445 |
| White-Sutton Syndrome |
|
Hypoplastic cervical vertebrae, Micrognathia, Hypoplasia of the corpus callosum, Short neck, High... |
OMIM:616364 |
| Squalene Synthase Deficiency |
|
Depressed nasal bridge, Retrognathia, Polymicrogyria, Bilateral cryptorchidism, Failure to thrive... |
OMIM:618156 |
| Spinocerebellar Ataxia 48 |
|
Cachexia |
OMIM:618093 |
| Ring Chromosome Y Syndrome |
|
Male hypogonadism, Female infertility, Abnormality of the male genitalia, Bifid scrotum, Gonadal ... |
ORPHA:261529 |
| Farber Disease |
|
Hepatosplenomegaly, Abnormality of the knee, Abnormality of the elbow, Short toe, Lymphadenopathy... |
ORPHA:333 |
| Morgagni-Stewart-Morel Syndrome |
|
Cerebral cortical atrophy, Obesity, Abnormality of the thyroid gland, Hirsutism, Hypothyroidism, ... |
ORPHA:77296 |
| Anauxetic Dysplasia 3 |
|
Platyspondyly, Depressed nasal bridge, High anterior hairline, Plagiocephaly, Hip subluxation, Re... |
OMIM:618853 |
| Gaucher Disease |
|
Gingival bleeding, Pancytopenia, Cirrhosis, Hepatomegaly, Increased bone mineral density, Abnorma... |
ORPHA:355 |
| Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Highly arched eyebrow, Long philtrum, Nail dystrophy, Hypoplasia of the corpus callosum, Agenesis... |
OMIM:300887 |
| Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities |
|
Small hand, Genu valgum, Micrognathia, Narrow mouth, Hypoplasia of the corpus callosum, Thoracolu... |
OMIM:618443 |
| Hypogonadotropic Hypogonadism 18 With Or Without Anosmia |
|
Abnormality of the dentition, Osteopenia, Anosmia, Hypogonadism, Absence of pubertal development,... |
OMIM:615267 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Elevated circulating hepatic transaminase concentration, Hemophagocytosis, Failure to thrive, Leu... |
OMIM:603553 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Abnormal vertebral morphology, Elevated circulating luteinizing hormone level, Hypoplastic scapul... |
ORPHA:95699 |
| 46,Xy Partial Gonadal Dysgenesis |
|
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnormal vagina morphology,... |
ORPHA:251510 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Midshaft hypospadias, Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnor... |
ORPHA:289548 |
| Wolf-Hirschhorn Syndrome |
|
Micrognathia, Cryptorchidism, Agenesis of corpus callosum, Low posterior hairline, Radioulnar syn... |
OMIM:194190 |
| Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities |
|
Cerebellar vermis hypoplasia, Depressed nasal bridge, Failure to thrive, Long philtrum, Hypoplasi... |
OMIM:620001 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Cachexia, Neutropenia, Autoimmune thrombocytopenia, Alopecia, Recurrent respiratory infections, F... |
ORPHA:37042 |
| Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies |
|
Plagiocephaly, Downturned corners of mouth, Small nail, Polymicrogyria, Tooth agenesis, Macrodont... |
OMIM:618731 |
| Bruck Syndrome 1 |
|
Platyspondyly, Abnormality of the dentition, Ankle flexion contracture, Vertebral wedging, Pteryg... |
OMIM:259450 |
| Congenital Neuronal Ceroid Lipofuscinosis |
|
Wide nasal bridge, Cerebral hypoplasia, Neuronal loss in the cerebral cortex, Agenesis of corpus ... |
ORPHA:168486 |
| Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Abnormal reticulocyte morphology, Abnormal dental morphology, Malar prominence, Micrognathia, Mic... |
ORPHA:2522 |
| Al Kaissi Syndrome |
|
High, narrow palate, Wide nasal bridge, Depressed nasal bridge, Broad nasal tip, Small hand, Long... |
OMIM:617694 |
| 46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Midshaft hypospadias, Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnor... |
ORPHA:168558 |
| Felty Syndrome |
|
Limitation of joint mobility, Abnormal joint morphology, Synovitis, Weight loss, Neutropenia, Rec... |
ORPHA:47612 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Osteopenia, Recurrent pneumonia, Elevated circulating hepatic transaminase concentration, Failure... |
OMIM:613327 |
| Coffin-Siris Syndrome 1 |
|
Clitoral hypertrophy, Facial hypertrichosis, Dry hair, Sparse scalp hair, Hypoplastic fifth finge... |
OMIM:135900 |
| Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Kyphosis, Short femoral neck, Decreased body weight, Reduced bone mineral density, Small for gest... |
OMIM:618392 |
| Hidrotic Ectodermal Dysplasia |
|
Small nail, Sparse eyelashes, Absent eyebrow, Absent axillary hair, Sparse hair, Alopecia, Sparse... |
ORPHA:189 |
| Trisomy 17P |
|
Micrognathia, Narrow mouth, Low posterior hairline, Generalized hirsutism, Short neck, High palat... |
ORPHA:261290 |
| Aarskog-Scott Syndrome |
|
Elevated circulating luteinizing hormone level, Hypoplasia of the odontoid process, Cervical spin... |
OMIM:305400 |
| Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Cerebellar vermis hypoplasia, Bifid uvula, Abnormality of the dentition, Depressed nasal bridge, ... |
OMIM:615802 |
| Oligodontia |
|
Short dental root, Agenesis of mandibular premolar, Abnormality of canine, Peg-shaped maxillary l... |
ORPHA:99798 |
| Trigonocephaly 1 |
|
High, narrow palate, Wide nasal bridge, Lumbar hemivertebrae, Long penis, Long philtrum, Trigonoc... |
OMIM:190440 |
| Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Osteomalacia, Micrognathia, Cryptorchidism, Short neck, Aplasia/hypoplasia of the femur, Long nos... |
ORPHA:2636 |
| Coenzyme Q10 Deficiency, Primary, 1 |
|
Hepatic failure, Pancytopenia, Diffuse cerebral atrophy, Anemia, Hypergonadotropic hypogonadism |
OMIM:607426 |
| Primrose Syndrome |
|
Sparse body hair, Cerebral calcification, Genu valgum, Narrow mouth, Cryptorchidism, Hypoplasia o... |
OMIM:259050 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Wide nasal bridge, Depressed nasal bridge, Widely spaced teeth, Macrocephaly, Anteverted nares, P... |
OMIM:300260 |
| Noonan Syndrome 1 |
|
Micrognathia, Cryptorchidism, Synovitis, Low posterior hairline, Short neck, High palate, Hypospa... |
OMIM:163950 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay |
|
Dental crowding, Cerebral atrophy, Hypoplasia of the corpus callosum, Low anterior hairline, Micr... |
OMIM:615031 |
| Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Goiter, Leukocytosis, Hashimoto thyroiditis, Hypothyroidism, Abnormal cerebral white matter morph... |
ORPHA:83601 |
| 46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Elevated circulating luteinizing hormone level, Sparse body hair, Decreased fertility, Cryptorchi... |
ORPHA:90796 |
| Chromosome 17P13.1 Deletion Syndrome |
|
Short neck, Everted lower lip vermilion, High palate, Short foot, High, narrow palate, Plagioceph... |
OMIM:613776 |
| Toriello-Carey Syndrome |
|
Abnormal corpus callosum morphology, Wide anterior fontanel, Sparse eyebrow, Cerebral atrophy, Sh... |
ORPHA:3338 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 2 |
|
Depressed nasal bridge, Intestinal lymphangiectasia, Narrow mouth, Irregular dentition, Pulmonary... |
OMIM:616006 |
| Bone Marrow Failure And Diabetes Mellitus Syndrome |
|
Type I diabetes mellitus, Pancytopenia, T-cell acute lymphoblastic leukemias, Increased mean corp... |
OMIM:620044 |
| Yunis-Varon Syndrome |
|
Clitoral hypertrophy, Aplasia of the distal phalanx of the hallux, Broad secondary alveolar ridge... |
ORPHA:3472 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Carious teeth, Natal tooth, Secondary microcephaly, Cryptorchidism, Patellar dislocation, Hypospa... |
ORPHA:353281 |
| Fraser Syndrome |
|
Small scrotum, Abnormal vagina morphology, Female pseudohermaphroditism, Cryptorchidism, Encephal... |
ORPHA:2052 |
| Shwachman-Diamond Syndrome 1 |
|
Elevated circulating hepatic transaminase concentration, Failure to thrive, Persistence of hemogl... |
OMIM:260400 |
| Riddle Syndrome |
|
Pneumonia, Recurrent pneumonia, Bronchitis, Recurrent sinusitis, Chronic sinusitis, Microcephaly,... |
ORPHA:420741 |
| Spondylo-Ocular Syndrome |
|
Platyspondyly, Iris hypopigmentation, Long philtrum, Abnormal eyebrow morphology, Joint hypermobi... |
ORPHA:85194 |
| Ogden Syndrome |
|
High, narrow palate, Microretrognathia, Everted upper lip vermilion, Cerebral atrophy, Enlarged n... |
ORPHA:276432 |
| Imerslund-Gräsbeck Syndrome |
|
Anisopoikilocytosis, Failure to thrive, Hypersegmentation of neutrophil nuclei, Pancytopenia, Ret... |
ORPHA:35858 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Small hand, Delayed cranial suture closure, Lymphopenia, Micrognathia, Cryptorchidism, Sparse hai... |
OMIM:620005 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Cerebellar vermis hypoplasia, Focal polymicrogyria, Dysgenesis of the basal ganglia, Hypoplasia o... |
OMIM:615771 |
| Uruguay Faciocardiomusculoskeletal Syndrome |
|
Joint contracture of the hand, Hyperplasia of the maxilla, Limited elbow movement, Dislocation of... |
OMIM:300280 |
| 46,Xy Sex Reversal 7 |
|
Hypoplasia of the fallopian tube, Streak ovary, Dysgerminoma, Abnormal epididymis morphology, Gon... |
OMIM:233420 |
| Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Clitoral hypertrophy, Aplasia/Hypoplasia of the corpus callosum, Micrognathia, Protruding tongue,... |
OMIM:214100 |
| Meckel Syndrome 12 |
|
Wide nasal bridge, Bifid uvula, Cerebral hypoplasia, Hypoplasia of the uterus, Anteverted nares, ... |
OMIM:616258 |
| Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Failure to thrive, Decreased liver function, Focal T2 hyperintense basal ganglia lesion, Hepatic ... |
ORPHA:70472 |
| Nizon-Isidor Syndrome |
|
High, narrow palate, Depressed nasal bridge, Sparse eyebrow, Thoracolumbar kyphosis, Downturned c... |
OMIM:618872 |
| Rett Syndrome |
|
Cerebral cortical atrophy, Abnormality of the dentition, Secondary microcephaly, Cachexia, Short ... |
OMIM:312750 |
| Fg Syndrome 3 |
|
Fine hair, Frontal upsweep of hair, Cryptorchidism, Agenesis of corpus callosum, Joint contractur... |
OMIM:300406 |
| Smith-Lemli-Opitz Syndrome |
|
Small scrotum, Micrognathia, Cryptorchidism, Hypoplasia of the corpus callosum, Hepatic steatosis... |
OMIM:270400 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Cardiomegaly, Hepatomegaly, Hypoketotic hypoglycemia, Dilated cardiomyopathy |
OMIM:600649 |
| 2Q23.1 Microdeletion Syndrome |
|
Highly arched eyebrow, Macrodontia, Open mouth, Malar flattening, Tented upper lip vermilion, Cry... |
ORPHA:228402 |
| 20Q11.2 Microduplication Syndrome |
|
Tented philtrum, Cryptorchidism, Short foot, Short nose, Trigonocephaly, Limited elbow extension,... |
ORPHA:363659 |
| 9Q33.3Q34.11 Microdeletion Syndrome |
|
Small scrotum, Tented philtrum, Narrow mouth, Cryptorchidism, Patellar aplasia, Short neck, Patel... |
ORPHA:495818 |
| Cranioectodermal Dysplasia 2 |
|
Cholestasis, Micrognathia, Sparse eyelashes, Short neck, Everted lower lip vermilion, Hepatomegal... |
OMIM:613610 |
| Alg12-Cdg |
|
Posterior plagiocephaly, Small nail, Micrognathia, Cryptorchidism, Hypoplasia of the corpus callo... |
ORPHA:79324 |
| Hemimegalencephaly |
|
Focal cortical dysplasia, Polymicrogyria, Hemimegalencephaly, Hyperintensity of cerebral white ma... |
ORPHA:99802 |
| Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects |
|
Elbow dislocation, Open bite, Cryptorchidism, Radial head subluxation, High palate, Hypospadias, ... |
OMIM:620083 |
| Ruvalcaba Syndrome |
|
Small hand, Dental crowding, Synostosis of carpal bones, Micromelia, Kyphosis, Abnormal vertebral... |
ORPHA:3121 |
| Warburg Micro Syndrome 4 |
|
Cerebral cortical atrophy, Small scrotum, Long philtrum, Secondary microcephaly, Decreased testic... |
OMIM:615663 |
| Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Wide nasal bridge, Bifid uvula, Depressed nasal bridge, Highly arched eyebrow, Downturned corners... |
ORPHA:404440 |
| Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Bone marrow hypocellularity, Reduced natural killer cell count, Oral leukoplakia, Pancytopenia, N... |
OMIM:620133 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Lateral ventricle dilatation, Small nail, Secondary microcephaly, Micrognathia, Narrow mouth, Lar... |
OMIM:300868 |
| Isovaleric Acidemia |
|
Bone marrow hypocellularity, Pancytopenia, Leukopenia, Thrombocytopenia |
OMIM:243500 |
| Peters-Plus Syndrome |
|
Facial hypertrichosis, Micrognathia, Short lingual frenulum, Cryptorchidism, Agenesis of corpus c... |
OMIM:261540 |
| 1Q21.1 Microdeletion Syndrome |
|
Wide nasal bridge, Scoliosis, Failure to thrive, Long philtrum, Ankyloglossia, Bulbous nose, Cryp... |
ORPHA:250989 |
| Fryns Syndrome |
|
Joint contracture of the hand, Hypoplasia of the optic tract, Small nail, Cryptorchidism, Agenesi... |
OMIM:229850 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Platyspondyly, Synostosis of carpal bones, Micromelia, Limitation of joint mobility, Abnormal joi... |
ORPHA:93351 |
| 1Q44 Microdeletion Syndrome |
|
Frontal bossing, Micrognathia, Exaggerated cupid's bow, Agenesis of corpus callosum, Microcephaly... |
ORPHA:238769 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Hyperinsulinemia, Micrognathia, Type II diabetes mellitus, Hepatic steatosis, Genu valgum, Low po... |
ORPHA:99413 |
| Mosaic Monosomy X |
|
Hyperinsulinemia, Micrognathia, Type II diabetes mellitus, Hepatic steatosis, Genu valgum, Low po... |
ORPHA:99228 |
| Monosomy X |
|
Hyperinsulinemia, Micrognathia, Type II diabetes mellitus, Hepatic steatosis, Genu valgum, Low po... |
ORPHA:99226 |
| Turner Syndrome |
|
Hyperinsulinemia, Micrognathia, Type II diabetes mellitus, Hepatic steatosis, Genu valgum, Low po... |
ORPHA:881 |
| Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Small scrotum, Onychogryposis of fingernail, Narrow mouth, Cryptorchidism, Plagiocephaly, Ridged ... |
ORPHA:2215 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Hypoplasia of the odontoid process, Decreased proportion of CD8-positive T cells, Lymphopenia, Mi... |
ORPHA:508533 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Delayed epiphyseal ossification, Depressed nasal bridge, Micromelia, Dysplastic sacrum, Anteverte... |
OMIM:613320 |
| Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Aplasia/Hypoplasia of fingers, Frontal bossing, Abnormal hair morphology, Narrow nasal bridge, Mi... |
ORPHA:3082 |
| Gaba-Transaminase Deficiency |
|
Cerebellar hypoplasia, Retrognathia, Agenesis of corpus callosum |
OMIM:613163 |
| Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Small hand, Hypoplasia of the corpus callosum, Short foot, Hip dislocation, Patent ductus arterio... |
OMIM:300968 |
| Autosomal Recessive Primary Microcephaly |
|
Abnormal cortical bone morphology, Hypoplasia of the frontal lobes, Thin upper lip vermilion, Mic... |
ORPHA:2512 |
| Baller-Gerold Syndrome |
|
Lambdoidal craniosynostosis, Abnormal vertebral morphology, Carpal synostosis, Micrognathia, Narr... |
OMIM:218600 |
| Orofaciodigital Syndrome Type 1 |
|
Open bite, Micrognathia, Agenesis of corpus callosum, Brittle hair, High palate, Tarsal synostosi... |
ORPHA:2750 |
| Indolent Systemic Mastocytosis |
|
Mastocytosis, Abnormal bone marrow cell morphology, Increased proportion of CD25+ mast cells, Spl... |
ORPHA:98848 |
| Craniosynostosis And Dental Anomalies |
|
Lambdoidal craniosynostosis, High palate, Flat occiput, Wide nose, Coronal craniosynostosis, Hypo... |
OMIM:614188 |
| Parastremmatic Dwarfism |
|
Genu valgum, Short neck, Flexion contracture, Scoliosis, Kyphosis |
OMIM:168400 |
| Teebi Hypertelorism Syndrome 1 |
|
Wide nasal bridge, Depressed nasal bridge, Coronal craniosynostosis, Small hand, Natal tooth, Den... |
OMIM:145420 |
| Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Absent middle phalanx of 5th finger, Cholestasis, Hepatosplenomegaly, Micrognathia, Frontal upswe... |
OMIM:266920 |
| Pycnodysostosis |
|
Aplastic clavicle, Spondylolysis, Carious teeth, Persistent open anterior fontanelle, Frontal bos... |
OMIM:265800 |
| Marfan Syndrome |
|
Open bite, Slender build, Micrognathia, Limited elbow movement, Cachexia, Protrusio acetabuli, Hi... |
ORPHA:558 |
| Meckel Syndrome, Type 1 |
|
Natal tooth, Occipital encephalocele, Micrognathia, Large placenta, Cryptorchidism, Agenesis of c... |
OMIM:249000 |
| Inverted Duplicated Chromosome 15 Syndrome |
|
Precocious puberty, Broad nasal tip, Gonadal dysgenesis, Hypogonadism, Cryptorchidism, Joint hype... |
ORPHA:3306 |
| Nabais Sa-De Vries Syndrome, Type 1 |
|
Depressed nasal bridge, Highly arched eyebrow, Sacral dimple, Bulbous nose, Simplified gyral patt... |
OMIM:618828 |
| Xq28 (MECP2) duplication |
|
Depressed nasal bridge, Failure to thrive, Narrow mouth, Malar flattening, Hypoplasia of the corp... |
DECIPHER:45 |
| Autosomal Recessive Spondylocostal Dysostosis |
|
Cryptorchidism, Short neck, Hypospadias, Abnormal morphology of female internal genitalia, Verteb... |
ORPHA:2311 |
| Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Osteopenia, Kyphosis, Increased circulating cortisol level, Pigmented micronodular adrenocortical... |
OMIM:610475 |
| Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
|
Trigonocephaly, Microcephaly, High palate, Pectus excavatum, Partial agenesis of the corpus callosum |
OMIM:245349 |
| Holoprosencephaly 11 |
|
Cleft lip, Polysplenia, Thick eyebrow, Agenesis of corpus callosum, Microcephaly, Cleft palate, S... |
OMIM:614226 |
| Craniolenticulosutural Dysplasia |
|
Carious teeth, Cryptorchidism, Brittle hair, High palate, Sparse hair, Osteopenia, Forehead hyper... |
OMIM:607812 |
| Hypoplasminogenemia |
|
Abnormality of the ovary, Abnormal fallopian tube morphology, Cervicitis |
ORPHA:722 |
| Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Bone marrow hypocellularity, Type I diabetes mellitus, Elevated circulating hepatic transaminase ... |
OMIM:615688 |
| Chromosome 1Q41-Q42 Deletion Syndrome |
|
Small nail, Supernumerary nipple, Cryptorchidism, High palate, Sparse eyebrow, Broad nasal tip, T... |
OMIM:612530 |
| Micro Syndrome |
|
Aplasia/Hypoplasia of the corpus callosum, Micrognathia, Cryptorchidism, Generalized hirsutism, H... |
ORPHA:2510 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Carious teeth, Natal tooth, Secondary microcephaly, Micrognathia, Cryptorchidism, Patellar disloc... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Carious teeth, Natal tooth, Secondary microcephaly, Micrognathia, Cryptorchidism, Patellar disloc... |
ORPHA:353277 |
| Kleefstra Syndrome 2 |
|
Bifid uvula, Plagiocephaly, Thick eyebrow, Microcephaly, Everted lower lip vermilion, Scoliosis, ... |
OMIM:617768 |
| Arthrogryposis, Distal, Type 4 |
|
Depressed nasal bridge, Osteopenia, Camptodactyly of 2nd-5th fingers, Low anterior hairline, Low ... |
OMIM:609128 |
| Wieacker-Wolff Syndrome |
|
Broad alveolar ridges, Hip dislocation, High anterior hairline, Kyphosis, Retrognathia, Cerebral ... |
OMIM:314580 |
| Duplication Of The Pituitary Gland |
|
Retrognathia, Brachyturricephaly, Abnormal odontoid process morphology, Hypoplasia of olfactory t... |
ORPHA:314621 |
| Difference Of Sex Development-Intellectual Disability Syndrome |
|
Small scrotum, Kyphosis, Downturned corners of mouth, Hypogonadism, Genu valgum, Low posterior ha... |
ORPHA:2983 |
| Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities |
|
Cerebral cortical atrophy, High anterior hairline, Downturned corners of mouth, Anteverted nares,... |
OMIM:618859 |
| Kleefstra Syndrome 1 |
|
Hypospadias, Natal tooth, Persistence of primary teeth, Obesity, Anteverted nares, Protruding ton... |
OMIM:610253 |
| 15Q Overgrowth Syndrome |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Micrognathia, Agenesis of co... |
ORPHA:314585 |
| Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Depressed nasal bridge, Long philtrum, Supernumerary nipple, Cryptorchidism, Agenesis of corpus c... |
OMIM:618929 |
| Type 1 Diabetes Mellitus |
|
Hyperglycemia, Diabetes mellitus |
OMIM:222100 |
| Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Ectopic ovary, Aplasia of the ovary, Endometriosis, Aplasia of the uterus, Dyspareunia, Primary a... |
ORPHA:3109 |
| Thymoma |
|
Rheumatoid arthritis, Aplastic anemia, Imbalanced hemoglobin synthesis, Neoplasm of the thyroid g... |
ORPHA:99867 |
| Cole-Carpenter Syndrome 2 |
|
Lambdoidal craniosynostosis, Dentinogenesis imperfecta, Coronal craniosynostosis, Microretrognath... |
OMIM:616294 |
| Schinzel-Giedion Midface Retraction Syndrome |
|
Small scrotum, Hypoplasia of the corpus callosum, Hypoplastic labia majora, Hepatoblastoma, Short... |
OMIM:269150 |
| Partial Androgen Insensitivity Syndrome |
|
Elevated circulating luteinizing hormone level, Clitoral hypertrophy, Male sexual dysfunction, Bi... |
ORPHA:90797 |
| Cutis Laxa, Autosomal Recessive, Type Iiib |
|
Osteopenia, Underdeveloped nasal alae, Fine hair, Elbow flexion contracture, Large fontanelles, C... |
OMIM:614438 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Sclerotic vertebral body, Platyspondyly, Craniofacial osteosclerosis, Increased skull ossificatio... |
OMIM:618476 |
| Brachyolmia Type 1, Hobaek Type |
|
Platyspondyly, Osteopenia, Kyphosis, Squared-off platyspondyly, Intervertebral space narrowing, T... |
OMIM:271530 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type |
|
Slender build, Frontal cortical atrophy, Brachycephaly, Macrocephaly |
OMIM:300699 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Hypoplastic scapulae, Short tibia, Small nail, Hepatosplenomegaly, Micrognathia, Narrow mouth, Cr... |
ORPHA:96334 |
| Coffin-Siris Syndrome 4 |
|
Sparse scalp hair, Everted upper lip vermilion, Agenesis of corpus callosum, Dandy-Walker malform... |
OMIM:614609 |
| Kleefstra Syndrome Due To A Point Mutation |
|
Precocious puberty, Abnormality of the dentition, Plagiocephaly, Natal tooth, Failure to thrive, ... |
ORPHA:261652 |
| Juvenile Polyposis Of Infancy |
|
High, narrow palate, Depressed nasal bridge, Freckled genitalia, Midclavicular hypoplasia, Fronta... |
ORPHA:79076 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Chronic lymphatic leukemia, Acute myeloid leukemia, Weight loss, Neutrophilia, Hepatomegaly, Myel... |
ORPHA:98849 |
| Bresek Syndrome |
|
Alopecia, Plagiocephaly, Decreased testicular size, Cryptorchidism, Neonatal death, Microcephaly,... |
ORPHA:85284 |
| Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Localized osteoporosis, Alopecia of scalp, Kyphoscoliosis, Diffuse cerebral atrophy, Deep cerebra... |
ORPHA:199354 |
| Desanto-Shinawi Syndrome |
|
Depressed nasal bridge, Downturned corners of mouth, Bulbous nose, Thick eyebrow, Hypoplasia of t... |
OMIM:616708 |
| Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum |
|
Sparse eyebrow, Plagiocephaly, Scoliosis, Arthrogryposis multiplex congenita, Widely spaced teeth... |
OMIM:617193 |
| Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Hyperglycemia, Maturity-onset diabetes of the young |
OMIM:609812 |
| Distal Deletion 12Q |
|
Small nail, Micrognathia, Short neck, Patent ductus arteriosus, High, narrow palate, Annular panc... |
ORPHA:96149 |
| Ring Chromosome 13 Syndrome |
|
Aplasia/hypoplasia involving bones of the hand, Micrognathia, Agenesis of corpus callosum, Aplasi... |
ORPHA:96176 |
| Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Cryptorchidism, Agenesis of corpus callosum, Male pseudohermaphroditism, Everted lower lip vermil... |
ORPHA:847 |
| Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects |
|
Kyphosis, Progressive microcephaly, Narrow mouth, Failure to thrive |
OMIM:620007 |
| Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome |
|
Broad nasal tip, Long philtrum, Thick lower lip vermilion, Large for gestational age, Thin upper ... |
ORPHA:137634 |
| Albinism, Oculocutaneous, Type Iii |
|
Albinism, Red hair, Partial albinism |
OMIM:203290 |
| Hoxha-Aliu Syndrome |
|
Abnormal vertebral morphology, Absent toenail, Absent fifth metatarsal, Patellar dislocation, Hig... |
OMIM:620662 |
| Hyperparathyroidism, Transient Neonatal |
|
Wide nasal bridge, Hyperparathyroidism, Depressed nasal bridge, Osteopenia, Fractured rib, Umbili... |
OMIM:618188 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 11 |
|
High, narrow palate, Reduced cerebral white matter volume, Congenital contracture, Retrognathia, ... |
OMIM:620156 |
| Hurler Syndrome |
|
Hypoplasia of the odontoid process, Hepatosplenomegaly, Short neck, Calvarial hyperostosis, Hepat... |
OMIM:607014 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Irregular menstruation, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration... |
ORPHA:79240 |
| Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 |
|
Osteopenia, Limitation of joint mobility, Large fontanelles, Arthropathy, Thickened calvaria, Wor... |
OMIM:259100 |
| Donnai-Barrow Syndrome |
|
Depressed nasal bridge, Broad nasal tip, Aplasia/Hypoplasia of the corpus callosum, Umbilical her... |
OMIM:222448 |
| Wrinkly Skin Syndrome |
|
Carious teeth, Delayed cranial suture closure, Cryptorchidism, High palate, Sparse hair, Osteopen... |
OMIM:278250 |
| Myopathic Ehlers-Danlos Syndrome |
|
Joint contracture of the hand, Micrognathia, Patellar subluxation, High, narrow palate, Ankle fle... |
ORPHA:536516 |
| Mirage Syndrome |
|
Hypospadias, Microphallus, Aspiration pneumonia, Radial club hand, Lymphopenia, Leukopenia, Decre... |
OMIM:617053 |
| Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Recurrent bronchopulmonary infections, Hypopigmentation of hair, Neutropenia, Partial albinism |
ORPHA:90023 |
| Hydrolethalus |
|
Bifid uvula, Gingival cleft, Unilateral cleft lip, Retrognathia, Micromelia, Micrognathia, Absent... |
ORPHA:2189 |
| Oculocerebrofacial Syndrome, Kaufman Type |
|
High, narrow palate, Clitoral hypertrophy, Retrognathia, Abnormal lip morphology, Failure to thri... |
ORPHA:2707 |
| Brachydactyly, Type B1 |
|
Joint contracture of the hand, Hypoplastic sacrum, Delayed cranial suture closure, Hypoplastic fi... |
OMIM:113000 |
| Pelger-Huet Anomaly |
|
Abnormality of the dentition, Depressed nasal bridge, Giant platelets, Failure to thrive, Short 3... |
OMIM:169400 |
| Yunis-Varon Syndrome |
|
Hypoplastic scapulae, Aspiration pneumonia, Micrognathia, Large fontanelles, Cryptorchidism, Hypo... |
OMIM:216340 |
| Coffin-Lowry Syndrome |
|
Craniofacial hyperostosis, Aplasia/Hypoplasia of the corpus callosum, Open mouth, Everted lower l... |
ORPHA:192 |
| Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Osteopenia, Thin calvarium, Micrognathia, Curly hair, Malar flattening, Wormian bones, Parietal b... |
ORPHA:85184 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly, Hypoglycemia |
OMIM:618838 |
| Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 |
|
Osteopenia, Joint subluxation, Contracture of the proximal interphalangeal joint of the 2nd finge... |
OMIM:130060 |
| Congenital Factor Vii Deficiency |
|
Ovarian cyst, Menorrhagia |
ORPHA:327 |
| Fumarase Deficiency |
|
Intrahepatic cholestasis, Depressed nasal bridge, Hepatic failure, Open operculum, Polycythemia, ... |
OMIM:606812 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Hypospadias, Mandibular prognathia, Depressed nasal bridge, Unilateral cleft lip, Focal polymicro... |
OMIM:619103 |
| Frank-Ter Haar Syndrome |
|
Wide nasal bridge, Depressed nasal bridge, Mandibular prognathia, Genu recurvatum, Kyphosis, Dela... |
ORPHA:137834 |
| Tetraamelia-Multiple Malformations Syndrome |
|
Aplasia/Hypoplasia involving the nose, Abnormal lung lobation, Micrognathia, Narrow mouth, Crypto... |
ORPHA:3301 |
| Oliver Syndrome |
|
Dental malocclusion, Short toe, Supernumerary nipple, Camptodactyly of finger, Elbow flexion cont... |
ORPHA:2920 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Hypoplasia of the pons, Hypoplasia of the brainstem, Type II lissencephaly, Agenesis of corpus ca... |
OMIM:613153 |
| Craniodigital-Intellectual Disability Syndrome |
|
Narrow nasal bridge, Micrognathia, Long eyelashes, Thick eyebrow, Generalized hirsutism, Brachyce... |
ORPHA:1514 |
| Spastic Paraplegia 11, Autosomal Recessive |
|
Cerebral cortical atrophy, Obesity, Abnormal periventricular white matter morphology, Hypoplasia ... |
OMIM:604360 |
| Osteogenesis Imperfecta, Type Ix |
|
Platyspondyly, Dentinogenesis imperfecta, Recurrent fractures, Bowing of limbs due to multiple fr... |
OMIM:259440 |
| Crouzon Syndrome |
|
Choanal atresia, Hypoplasia of the maxilla, Hypopigmented skin patches, Multiple suture craniosyn... |
ORPHA:207 |
| Methylmalonic Aciduria, Cblb Type |
|
Decreased methylmalonyl-CoA mutase activity, Failure to thrive, Pancytopenia, Hepatomegaly, Throm... |
OMIM:251110 |
| Hardikar Syndrome |
|
Portal inflammation, Cholestasis, Hepatosplenomegaly, Cleft soft palate, Hypersplenism, Bilateral... |
OMIM:301068 |
| Paget Disease Of Bone 5, Juvenile-Onset |
|
Osteopenia, Kyphosis, Failure to thrive, Recurrent fractures, Short humerus, Barrel-shaped chest,... |
OMIM:239000 |
| Cutis Laxa, Autosomal Recessive, Type Iia |
|
Congenital hip dislocation, Carious teeth, Coarse hair, Failure to thrive, Long philtrum, Polymic... |
OMIM:219200 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Carious teeth, Periodontitis, Hepatic steatosis, Oral ulcer, Polycystic ovaries, Hepatomegaly, Ch... |
ORPHA:79259 |
| Dentinogenesis Imperfecta, Shields Type Iii |
|
Dental enamel pits, Dentinogenesis imperfecta, Periapical bone loss, Anterior open-bite malocclus... |
OMIM:125500 |
| Mgat2-Cdg |
|
Osteopenia, Scoliosis, Dental crowding, Failure to thrive, Kyphosis, Long eyelashes, Open mouth, ... |
ORPHA:79329 |
| Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity |
|
Hepatic sinusoidal dilatation, Lateral ventricle dilatation, Basal ganglia calcification, Cerebra... |
OMIM:620371 |
| Gapo Syndrome |
|
Delayed cranial suture closure, Micrognathia, Sparse eyelashes, Hepatomegaly, Sparse hair, Short ... |
OMIM:230740 |
| Silver-Russell Syndrome 1 |
|
Downturned corners of mouth, Delayed cranial suture closure, Decreased response to growth hormone... |
OMIM:180860 |
| Ogden Syndrome |
|
Flared nostrils, Everted upper lip vermilion, Large posterior fontanelle, Delayed cranial suture ... |
OMIM:300855 |
| Severe Intellectual Disability-Corpus Callosum Agenesis-Facial Dysmorphism-Cerebellar Ataxia Syndrome |
|
Cerebellar vermis hypoplasia, Highly arched eyebrow, Thick lower lip vermilion, Anteverted nares,... |
ORPHA:466688 |
| Osteogenesis Imperfecta, Type Xx |
|
Highly arched eyebrow, Plagiocephaly, Retrognathia, Sparse lateral eyebrow, Agenesis of permanent... |
OMIM:618644 |
| Microform Holoprosencephaly |
|
Choanal atresia, Panhypopituitarism, Narrow nasal bridge, Anteverted nares, Tented upper lip verm... |
ORPHA:280200 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Failure to thrive, Pancytopenia, Leukopenia, Thrombocytopenia, Anemia, Diabetes mellitus |
OMIM:613845 |
| Neurogenic Arthrogryposis Multiplex Congenita |
|
Ankle flexion contracture, Plagiocephaly, Elbow flexion contracture, Scaphocephaly, Micrognathia,... |
ORPHA:1143 |
| Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal mesentery morphology, Abnormality of the spleen, Cachexia, Abnormal form of the vertebra... |
ORPHA:93941 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Delayed epiphyseal ossification, Hypochromic anemia, Osteomalacia, Hepatomegaly, Genu varum, Seco... |
ORPHA:289157 |
| Aromatase Deficiency |
|
Delayed epiphyseal ossification, Osteopenia, Female infertility, Male infertility, Ambiguous geni... |
ORPHA:91 |
| Monosomy 13Q34 |
|
Epistaxis, Broad nasal tip, Horizontal eyebrow, Obesity, Micrognathia, Prominent nose, Hepatic st... |
ORPHA:96168 |
| Zellweger Syndrome |
|
Wide nasal bridge, Depressed nasal bridge, Clitoral hypertrophy, Hepatic failure, Failure to thri... |
ORPHA:912 |
| Chromosome 6Q24-Q25 Deletion Syndrome |
|
High, narrow palate, Small hand, Lateral ventricle dilatation, Long philtrum, Probst bundles, Ant... |
OMIM:612863 |
| Methylmalonic Aciduria, Cbla Type |
|
Decreased methylmalonyl-CoA mutase activity, Failure to thrive, Pancytopenia, Hepatomegaly, Throm... |
OMIM:251100 |
| Autosomal Recessive Multiple Pterygium Syndrome |
|
Small scrotum, Limitation of joint mobility, Micrognathia, Cryptorchidism, Low posterior hairline... |
ORPHA:2990 |
| Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia |
|
Cerebellar vermis hypoplasia, Aplasia/Hypoplasia of the corpus callosum, Anteverted nares, Long e... |
OMIM:616819 |
| Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Microretrognathia, Broad nasal tip, Downturned corners of mouth, Plagiocephaly, Prominent nasal b... |
ORPHA:457193 |
| Band Heterotopia |
|
Plagiocephaly, Lateral ventricle dilatation, Polymicrogyria, Agenesis of corpus callosum, Macroce... |
OMIM:600348 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Thoracic hemivertebrae, Micrognathia, Hypoplasia of the corpus callosum, Agenesis of corpus callo... |
ORPHA:508498 |
| Zimmermann-Laband Syndrome 2 |
|
Bifid nasal tip, Kyphosis, Underdeveloped nasal alae, Hypertrichosis, Long eyelashes, Gingival ov... |
OMIM:616455 |
| Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts |
|
Bowing of limbs due to multiple fractures, Decreased calvarial ossification, Microcephaly, Wormia... |
OMIM:259410 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Alopecia, Nail dystrophy, Nail dysplasia, Cachexia, Hyperpigmentation of the skin, Anemia, Glossitis |
OMIM:175500 |
| Trisomy 8P |
|
Cryptorchidism, Agenesis of corpus callosum, Low posterior hairline, Short neck, Short nose, Annu... |
ORPHA:264450 |
| Familial Congenital Mirror Movements |
|
Hypogonadotropic hypogonadism, Fused cervical vertebrae, Abnormal corticospinal tract morphology,... |
ORPHA:238722 |
| Infantile Krabbe Disease |
|
Failure to thrive, Hypopigmented skin patches, Abnormal periventricular white matter morphology, ... |
ORPHA:206436 |
| Orofaciodigital Syndrome Xv |
|
Wide nasal bridge, Cerebellar vermis hypoplasia, Midline notch of upper alveolar ridge, Anteverte... |
OMIM:617127 |
| Microphthalmia, Syndromic 12 |
|
Wide nasal bridge, Broad nasal tip, Retrognathia, Micrognathia, Cryptorchidism, Neonatal death, B... |
OMIM:615524 |
| Congenital Myopathy 17 |
|
Dental malocclusion, Long philtrum, Failure to thrive in infancy, Tented upper lip vermilion, Nar... |
OMIM:618975 |
| Faciocardiomelic Syndrome |
|
Depressed nasal bridge, Osteopenia, Dental malocclusion, Long philtrum, Hyperplasia of the maxill... |
OMIM:612731 |
| Juvenile Paget Disease |
|
Abnormality of the dentition, Coarse metaphyseal trabecularization, Cranial hyperostosis, Melanoc... |
ORPHA:2801 |
| X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome |
|
Hypertrichosis, Prominent metopic ridge, Short philtrum, Scoliosis, Mandibular prognathia, Kyphos... |
ORPHA:85317 |
| Dermatosparaxis Ehlers-Danlos Syndrome |
|
Depressed nasal bridge, Osteopenia, Joint dislocation, Retrognathia, Rickets, Abnormal joint morp... |
ORPHA:1901 |
| Osteogenesis Imperfecta, Type Xviii |
|
Wide nasal bridge, Abnormality of the dentition, Umbilical hernia, Long eyelashes, Micrognathia, ... |
OMIM:617952 |
| Sandestig-Stefanova Syndrome |
|
Wide nasal bridge, Highly arched eyebrow, Retrognathia, Sparse medial eyebrow, Trigonocephaly, Hy... |
OMIM:618804 |
| Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Kyphosis, Short toe, Decreased testicular size, Hyperinsulinemia, Obesity, Type II diabetes melli... |
ORPHA:3085 |
| Fanconi Anemia, Complementation Group U |
|
Chromosome breakage |
OMIM:617247 |
| Cebalid Syndrome |
|
Depressed nasal bridge, Depressed nasal ridge, Plagiocephaly, Platystencephaly, Highly arched eye... |
OMIM:618774 |
| Contractural Arachnodactyly, Congenital |
|
Micrognathia, Hip contracture, Short neck, Patellar subluxation, Patellar dislocation, High palat... |
OMIM:121050 |
| Tenorio Syndrome |
|
Cerebral cortical atrophy, Recurrent pneumonia, Mandibular prognathia, Osteopenia, Delayed crania... |
OMIM:616260 |
| Craniometadiaphyseal Dysplasia |
|
Osteopenia, Carious teeth, Natal tooth, Absent paranasal sinuses, Dental crowding, Sclerosis of s... |
OMIM:269300 |
| Cleidocranial Dysplasia 1 |
|
Hypoplastic scapulae, Absent paranasal sinuses, Micrognathia, Large fontanelles, Delayed pubic bo... |
OMIM:119600 |
| Fryns Syndrome |
|
Wide nasal bridge, Cerebral cortical atrophy, Hypospadias, Short distal phalanx of finger, Long p... |
ORPHA:2059 |
| Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Large posterior fontanelle, Delayed cranial suture closure, Micrognathia, Absent eyelashes, Absen... |
ORPHA:85199 |
| Congenital Disorder Of Glycosylation, Type Iiw |
|
Microcytic anemia, Ankyloglossia, Micrognathia, Hepatic steatosis, Elevated circulating alanine a... |
OMIM:619525 |
| Cystic Echinococcosis |
|
Cholestatic liver disease, Peritoneal abscess, Pulmonary cyst, Abnormality of the testis size, El... |
ORPHA:400 |
| Orthostatic Hypotension 2 |
|
Hypoglycemia |
OMIM:618182 |
| Diamond-Blackfan Anemia 7 |
|
Choanal atresia, Osteopenia, Increased mean corpuscular volume, Short thumb, Macrocytic anemia, N... |
OMIM:612562 |
| Trisomy 13 |
|
High, narrow palate, Abnormality of the dentition, Kyphosis, Long philtrum, Abnormal lung lobatio... |
ORPHA:3378 |
| Atelosteogenesis, Type Ii |
|
Platyspondyly, Depressed nasal bridge, Cervical kyphosis, Micromelia, Lumbar hyperlordosis, Micro... |
OMIM:256050 |
| Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Arthrogryposis multiplex congenita, Prominent nasal bridge, Cryptorchidism, Short neck, Dolichoce... |
ORPHA:178148 |
| Cleft Lip/Palate |
|
Hypoplasia of the maxilla, Dental malocclusion, Velopharyngeal insufficiency, Palate fistula, Peg... |
ORPHA:199306 |
| X-Linked Creatine Transporter Deficiency |
|
Open mouth, Malar flattening, Joint hypermobility, Microcephaly, Cachexia |
ORPHA:52503 |
| Mycetoma |
|
Abnormal form of the vertebral bodies, Painless fractures due to injury, Pathologic fracture, Ost... |
ORPHA:2583 |
| Auriculocondylar Syndrome |
|
Mandibular condyle aplasia, Bifid uvula, Microglossia, Dental malocclusion, Dental crowding, Abno... |
ORPHA:137888 |
| Akt2-Related Familial Partial Lipodystrophy |
|
Oligomenorrhea, Polycystic ovaries |
ORPHA:79085 |
| Craniotelencephalic Dysplasia |
|
Absent septum pellucidum, Agenesis of corpus callosum, Cerebellar hypoplasia, Frontal encephaloce... |
OMIM:218670 |
| Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Foot acroosteolysis, Abnormality of the ankle, Dystrophic toenail, Abnormal cortical bone morphol... |
ORPHA:970 |
| Sjögren-Larsson Syndrome |
|
Abnormal dental enamel morphology, Joint stiffness, Generalized hyperpigmentation, Abnormality of... |
ORPHA:816 |
| Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome |
|
Plagiocephaly, Agenesis of corpus callosum, Macrocephaly |
ORPHA:459074 |
| Achondroplasia |
|
Flat acetabular roof, Cervical spinal canal stenosis, Obesity, Limited elbow extension, Knee join... |
ORPHA:15 |
| Pallister-Hall-Like Syndrome |
|
Depressed nasal bridge, Hip dislocation, Microglossia, Occipital encephalocele, Micromelia, Short... |
OMIM:241800 |
| Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
|
Dentinogenesis imperfecta, Limitation of joint mobility, Upper limb undergrowth, Pathologic fract... |
ORPHA:166277 |
| Simpson-Golabi-Behmel Syndrome |
|
Small nail, Supernumerary nipple, Cryptorchidism, Agenesis of corpus callosum, Hepatoblastoma, Sh... |
ORPHA:373 |
| Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Joint contracture of the hand, Open mouth, Elevated circulating alanine aminotransferase concentr... |
OMIM:280000 |
| Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Carious teeth, Cryptorchidism, Long nose, Narrow maxilla, High palate, Hypospadias, Short nose, D... |
OMIM:617602 |
| Obesity Due To Prohormone Convertase I Deficiency |
|
Hypopigmentation of the skin, Failure to thrive, Decreased response to growth hormone stimulation... |
ORPHA:71528 |
| Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Hypopigmentation of the skin, Failure to thrive, Decreased response to growth hormone stimulation... |
ORPHA:71526 |
| Coffin-Siris Syndrome 11 |
|
Bifid uvula, Depressed nasal bridge, Small hand, Downturned corners of mouth, Frontal bossing, Bu... |
OMIM:618779 |
| 8P23.1 Microdeletion Syndrome |
|
Wide nasal bridge, Hypospadias, Obesity, Micrognathia, Prominent nasal bridge, Cryptorchidism, Pu... |
ORPHA:251071 |
| Metatropic Dysplasia |
|
Depressed nasal bridge, Hypoplastic cervical vertebrae, Micromelia, Coarse metaphyseal trabecular... |
ORPHA:2635 |
| Progressive Pseudorheumatoid Dysplasia |
|
Platyspondyly, Joint contracture of the hand, Camptodactyly of finger, Sclerotic vertebral endpla... |
OMIM:208230 |
| 16Q24.3 Microdeletion Syndrome |
|
Highly arched eyebrow, Increased mean corpuscular volume, Long philtrum, Frontal bossing, Antever... |
ORPHA:261250 |
| Sarcoidosis, Susceptibility To, 1 |
|
Mediastinal lymphadenopathy, Enlarged lacrimal glands, Abnormal salivary gland morphology, Emphys... |
OMIM:181000 |
| Osteogenesis Imperfecta, Type V |
|
Platyspondyly, Dentinogenesis imperfecta, Osteopenia, Vertebral wedging, Anterior radial head dis... |
OMIM:610967 |
| Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome |
|
Choanal atresia, Retrognathia, Prominent nasal bridge, Agenesis of corpus callosum, Short neck, M... |
ORPHA:52055 |
| Prolactinoma |
|
Central adrenal insufficiency, Decreased fertility in females, Elevated circulating growth hormon... |
ORPHA:2965 |
| Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies |
|
Camptodactyly, Kyphosis, Short thumb, Cerebral atrophy |
OMIM:618453 |
| Juvenile Amyotrophic Lateral Sclerosis |
|
Upper-limb joint contracture, Microcephaly, Cachexia, Lower-limb joint contracture, Scoliosis |
ORPHA:300605 |
| Dworschak-Punetha Neurodevelopmental Syndrome |
|
Depressed nasal bridge, Sparse lateral eyebrow, Microdontia, Dysplastic corpus callosum, Microcep... |
OMIM:619955 |
| Jacobsen Syndrome |
|
Cryptorchidism, Agenesis of corpus callosum, Short neck, Hip dislocation, Short nose, Annular pan... |
ORPHA:2308 |
| Branchioskeletogenital Syndrome |
|
Carious teeth, Short neck, Thoracolumbar kyphoscoliosis, Hypoplasia of the maxilla, Absent extern... |
ORPHA:1299 |
| Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
|
Osteopenia, Broad nasal tip, Anteverted nares, Cerebellar hypoplasia, Osteoporosis |
ORPHA:529665 |
| Genitourinary And/Or Brain Malformation Syndrome |
|
Clitoral hypertrophy, Secondary microcephaly, Micrognathia, Streak ovary, Cryptorchidism, Agenesi... |
OMIM:618820 |
| Wieacker-Wolff Syndrome, Female-Restricted |
|
Hip dislocation, Microretrognathia, Kyphosis, Downturned corners of mouth, Long philtrum, Antever... |
OMIM:301041 |
| Occipital Horn Syndrome |
|
Synostosis of joints, Delayed cranial suture closure, Cholestasis, Osteomalacia, Cerebral calcifi... |
ORPHA:198 |
| X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome |
|
Narrow mouth, Cryptorchidism, Everted lower lip vermilion, Hypospadias, Decreased testicular size... |
ORPHA:459070 |
| Craniosynostosis, Herrmann-Opitz Type |
|
Micromelia, Micrognathia, Malar flattening, Turricephaly, Brachycephaly, Aplasia/Hypoplasia of th... |
ORPHA:2145 |
| Hypogonadotropic Hypogonadism 20 With Or Without Anosmia |
|
Anosmia, Osteopenia, Hypogonadism, Delayed puberty, Osteoporosis |
OMIM:615270 |
| Wiedemann-Rautenstrauch Syndrome |
|
Natal tooth, Increased circulating prolactin concentration, Slender build, Increased serum estrad... |
ORPHA:3455 |
| Acrofrontofacionasal Dysostosis 2 |
|
Bifid scrotum, Sacral dimple, Microcephaly, Brachycephaly, Shawl scrotum, High palate, Hypospadia... |
OMIM:239710 |
| 3P25.3 Microdeletion Syndrome |
|
High, narrow palate, Depressed nasal bridge, Acromesomelia, Scoliosis, Downturned corners of mout... |
ORPHA:435638 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Open mouth, Cryptorchidism, Hypoplasia of the corpus callosum, High palate, Osteopenia, Plagiocep... |
ORPHA:453499 |
| Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities |
|
Bifid uvula, Small hand, Cleft lip, Plagiocephaly, Downturned corners of mouth, Long philtrum, Ob... |
OMIM:618089 |
| Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Small hand, Plagiocephaly, Failure to thrive, Hypogonadism, Periventricular leukomalacia, Cryptor... |
ORPHA:500055 |
| Pituitary Hormone Deficiency, Combined Or Isolated, 1 |
|
Delayed cranial suture closure, Hypopituitarism, Decreased circulating free T3, Prolonged neonata... |
OMIM:613038 |
| Bruck Syndrome |
|
Platyspondyly, Arthrogryposis multiplex congenita, Pterygium, Joint stiffness, Recurrent fracture... |
ORPHA:2771 |
| Werner Syndrome |
|
Hypogonadism, Elevated circulating aspartate aminotransferase concentration, Reduced bone mineral... |
OMIM:277700 |
| Livedoid Vasculopathy |
|
Hyperpigmented streaks, Graves disease, Polycythemia, Pancytopenia, Ischemic stroke, Leukocytosis... |
ORPHA:542643 |
| Doors Syndrome |
|
Wide nasal base, Toenail dysplasia, Aspiration pneumonia, Short lingual frenulum, Open mouth, Adr... |
ORPHA:79500 |
| Cornelia De Lange Syndrome 1 |
|
Micrognathia, Cryptorchidism, Low posterior hairline, Hypoplastic labia majora, Short neck, High ... |
OMIM:122470 |
| Geroderma Osteodysplastica |
|
Platyspondyly, Abnormal form of the vertebral bodies, Recurrent fractures, Malar flattening, Bico... |
ORPHA:2078 |
| Endocrine-Cerebroosteodysplasia |
|
Small scrotum, Natal tooth, Focal polymicrogyria, Thick upper lip vermilion, Micrognathia, Crypto... |
OMIM:612651 |
| Alagille Syndrome |
|
Short distal phalanx of finger, Peripheral pulmonary artery stenosis, Failure to thrive, Abnormal... |
ORPHA:52 |
| Intellectual Developmental Disorder, Autosomal Dominant 64 |
|
Depressed nasal bridge, Plagiocephaly, Bulbous nose, Anteverted nares, Micrognathia, Cerebellar h... |
OMIM:619188 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Depressed nasal bridge, Highly arched eyebrow, Everted upper lip vermilion, Supernumerary nipple,... |
OMIM:619951 |
| Glycine Encephalopathy 1 |
|
Agenesis of corpus callosum |
OMIM:605899 |
| Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Type I diabetes mellitus, Pigmentary retinopathy, Rickets, Failure to thrive, Mottled pigmentatio... |
OMIM:560000 |
| Peroxisome Biogenesis Disorder 3B |
|
Depressed nasal ridge, Failure to thrive, Malar flattening, Hepatomegaly, Osteoporosis |
OMIM:266510 |
| Weaver Syndrome |
|
Joint contracture of the hand, Lateral ventricle dilatation, Cryptorchidism, Thin nail, Sparse ha... |
OMIM:277590 |
| Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Wide nasal bridge, Osteopenia, Abnormality of hair texture, Depigmentation/hyperpigmentation of s... |
ORPHA:73223 |
| Alg3-Cdg |
|
Macroglossia, Osteopenia, Hypopigmentation of the skin, Arthrogryposis multiplex congenita, Hypop... |
ORPHA:79321 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 13 |
|
Cerebellar vermis hypoplasia, Plagiocephaly, Focal cortical dysplasia, Hypoplasia of the brainste... |
OMIM:614563 |
| Analbuminemia |
|
Osteoporosis, Recurrent lower respiratory tract infections, Patent ductus arteriosus |
OMIM:616000 |
| Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
High, narrow palate, Osteopenia, Recurrent pneumonia, Joint subluxation, Joint dislocation, Umbil... |
ORPHA:1900 |
| Saethre-Chotzen Syndrome |
|
Depressed nasal bridge, Hypoplasia of the maxilla, Plagiocephaly, Abnormal form of the vertebral ... |
ORPHA:794 |
| Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome |
|
Depressed nasal bridge, Bilateral cryptorchidism, Thin upper lip vermilion, Brachycephaly, Pectus... |
ORPHA:314575 |
| Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Kyphosis, Midline defect of the nose, Abnormality of the thyroid gland, Anteverted nares, Melanoc... |
ORPHA:1969 |
| Idiopathic Achalasia |
|
Recurrent aspiration pneumonia, Weight loss, Bronchitis |
ORPHA:930 |
| Thanatophoric Dysplasia |
|
Platyspondyly, Depressed nasal bridge, Kyphosis, Micromelia, Joint stiffness, Joint hypermobility... |
ORPHA:2655 |
| Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Supernumerary nipple, Genu valgum, Cryptorchidism, Hypoplasia of the corpus callosum, Agenesis of... |
OMIM:619194 |
| 3C Syndrome |
|
Micrognathia, Short neck, Hypospadias, Short nose, High, narrow palate, Missing ribs, Orofacial c... |
ORPHA:7 |
| Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Atelectasis, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Recurrent respirator... |
OMIM:619466 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Micrognathia, Hypoparathyroidism, Patent ductus arteriosus, High, narrow palate, Precocious puber... |
ORPHA:369837 |
| Congenital Disorder Of Glycosylation, Type Iq |
|
Cerebellar vermis hypoplasia, Depressed nasal bridge, Elevated circulating hepatic transaminase c... |
OMIM:612379 |
| Prader-Willi Syndrome Due To Imprinting Mutation |
|
Iris hypopigmentation, Small hand, Hypopigmentation of the skin, External genital hypoplasia, Obe... |
ORPHA:177910 |
| Cdags Syndrome |
|
Lambdoidal craniosynostosis, Coronal craniosynostosis, Sparse eyebrow, Sparse scalp hair, Parieta... |
OMIM:603116 |
| Sporadic Fetal Brain Disruption Sequence |
|
Cerebral cortical atrophy, Plagiocephaly, Aplasia/Hypoplasia of the thymus, Prominent occiput, Mi... |
ORPHA:1665 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Insulin-resistant diabetes mellitus, Delayed cranial suture closure, Hyperinsulinemia, Micrognath... |
OMIM:608612 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Small hand, Small nail, Micrognathia, Narrow mouth, Cryptorchidism, Hypoplasia of the corpus call... |
OMIM:309590 |
| Waardenburg Syndrome Type 1 |
|
Hypopigmented skin patches, White hair, Premature graying of hair, Abnormal hair morphology, Whit... |
ORPHA:894 |
| Horizontal Gaze Palsy With Progressive Scoliosis |
|
Short neck, Scoliosis, Kyphosis |
ORPHA:2744 |
| Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures |
|
Depressed nasal bridge, Plagiocephaly, Short thumb, Cervical spinal canal stenosis, Bulbous nose,... |
OMIM:620224 |
| Obesity Due To Congenital Leptin Deficiency |
|
Decreased serum estradiol, Recurrent upper respiratory tract infections, Insulin-resistant diabet... |
ORPHA:66628 |
| Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Ectopic posterior pituitary, Large posterior fontanelle, Delayed cranial suture closure, Hypopitu... |
ORPHA:226307 |
| Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies |
|
Cerebral cortical atrophy, Plagiocephaly, Hypoplasia of the corpus callosum, Microcephaly, Abnorm... |
OMIM:617481 |
| Greenberg Dysplasia |
|
Fractured rib, Supernumerary vertebral ossification centers, Hepatosplenomegaly, Micrognathia, La... |
OMIM:215140 |
| Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Plagiocephaly, Elevated circulating hepatic transaminase concentration, Failure to thrive, Cerebr... |
OMIM:615471 |
| Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome |
|
Wide nasal bridge, Arthrogryposis multiplex congenita, Pursed lips, Long philtrum, Enlarged naris... |
ORPHA:562528 |
| Carey-Fineman-Ziter Syndrome 1 |
|
Spinal rigidity, Depressed nasal bridge, Microglossia, Broad nasal tip, Retrognathia, Failure to ... |
OMIM:254940 |
| Trisomy 10P |
|
Micrognathia, Absent gallbladder, Periventricular white matter hypodensities, High palate, Rectov... |
ORPHA:171929 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Decreased serum estradiol, Recurrent upper respiratory tract infections, Insulin-resistant diabet... |
ORPHA:179494 |
| 45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Micrognathia, Abnormal scrotum morphology, Cryptorchidism, Streak ovary, Low posterior hairline, ... |
ORPHA:1772 |
| Prolidase Deficiency |
|
Depressed nasal ridge, Depressed nasal bridge, Carious teeth, Palmoplantar keratoderma, Hypoplasi... |
ORPHA:742 |
| Osteopetrosis, Autosomal Recessive 3 |
|
Dental malocclusion, Extramedullary hematopoiesis, Cranial hyperostosis, Basal ganglia calcificat... |
OMIM:259730 |
| Holoprosencephaly 7 |
|
Hypoplastic nasal septum, Hypoplasia of the premaxilla, Agenesis of corpus callosum, Bilateral cl... |
OMIM:610828 |
| Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Alopecia, Scoliosis, Synostosis of carpal bones, Kyphosis, Abnormal dental enamel morphology, Sho... |
ORPHA:1005 |
| Zttk Syndrome |
|
Small hand, Narrow mouth, Absent gallbladder, Hypoplasia of the corpus callosum, Curly hair, High... |
OMIM:617140 |
| Hypomandibular Faciocranial Dysostosis |
|
Bifid uvula, Aplasia/Hypoplasia of the tongue, Abnormal morphology of female internal genitalia, ... |
ORPHA:1790 |
| 9P13 Microdeletion Syndrome |
|
Precocious puberty, Wide nasal bridge, Highly arched eyebrow, Microretrognathia, Umbilical hernia... |
ORPHA:324313 |
| Neu-Laxova Syndrome 1 |
|
Joint contracture of the hand, Micrognathia, Cryptorchidism, Agenesis of corpus callosum, Neonata... |
OMIM:256520 |
| Calvarial Doughnut Lesions With Bone Fragility |
|
Platyspondyly, Osteopenia, Carious teeth, Thickened calvaria, Osteoporosis, Scoliosis, Recurrent ... |
OMIM:126550 |
| Huntington Disease-Like 2 |
|
Cerebral cortical atrophy, Abnormal corpus striatum morphology, Caudate atrophy, Weight loss, Abn... |
ORPHA:98934 |
| Icf Syndrome |
|
Depressed nasal bridge, Abnormality of chromosome stability, Abnormality of neutrophils, Umbilica... |
ORPHA:2268 |
| Menkes Disease |
|
Chondrocalcinosis, Umbilical hernia, Osteomyelitis, Micrognathia, Prominent occiput, Abnormal pal... |
ORPHA:565 |
| Pearson Marrow-Pancreas Syndrome |
|
Type I diabetes mellitus, Hepatic failure, Elevated circulating hepatic transaminase concentratio... |
OMIM:557000 |
| Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Cerebral atrophy, Pancytopenia, Abnormal cerebral white matter morphology, Gliosis, Cerebral edema |
OMIM:618321 |
| Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Plagiocephaly, Elbow dislocation, Abnormal form of the vertebral bodies, Abnormal dental enamel m... |
ORPHA:2916 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Ankyloglossia, Cleft soft palate, Open mouth, Short neck, Curly hair, High, narrow palate, Precoc... |
OMIM:619950 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Natal tooth, Large posterior fontanelle, Short tibia, Micrognathia, Absent gallbladder, Neonatal ... |
OMIM:617925 |
| Kaufman Oculocerebrofacial Syndrome |
|
Depressed nasal bridge, Clitoral hypertrophy, Carious teeth, Congenital hip dislocation, Failure ... |
OMIM:244450 |
| Transcobalamin Ii Deficiency |
|
Failure to thrive, Pancytopenia, Megaloblastic bone marrow, Macrocytic anemia, Erythroid hypoplas... |
OMIM:275350 |
| Hypomelanosis Of Ito |
|
Alopecia, Cerebral atrophy, Thick lower lip vermilion, Macular hypopigmented whorls, streaks, and... |
OMIM:300337 |
| Laurence-Moon Syndrome |
|
Obesity, Type II diabetes mellitus, Cryptorchidism, Congenital hepatic fibrosis, Displacement of ... |
ORPHA:2377 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Elevated circulating luteinizing hormone level, Decreased fertility, Ovarian cyst, Primary amenor... |
ORPHA:90793 |
| Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Iris hypopigmentation, Cessation of head growth, Mandibular prognathia, Hypopigmentation of the s... |
ORPHA:98794 |
| Smith-Magenis Syndrome |
|
Wide nasal bridge, Abnormality of the dentition, Everted upper lip vermilion, Velopharyngeal insu... |
OMIM:182290 |
| Vitamin D-Dependent Rickets, Type 2A |
|
Wide nasal bridge, Delayed epiphyseal ossification, Alopecia universalis, Carious teeth, Elevated... |
OMIM:277440 |
| Chromosome 1P36 Deletion Syndrome, Distal |
|
Lateral ventricle dilatation, Abnormality of the hairline, Cryptorchidism, Hypoplasia of the corp... |
OMIM:607872 |
| Leopard Syndrome 1 |
|
Cryptorchidism, Aplasia of the ovary, Limited elbow movement, Short neck, Hypospadias, Depressed ... |
OMIM:151100 |
| Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Wide nasal bridge, Osteopenia, Hip dislocation, Retrognathia, Failure to thrive, Hirsutism, Kypho... |
OMIM:618005 |
| Acquired Hypertrichosis Lanuginosa |
|
Fine hair, Abnormal eyebrow morphology, Generalized hirsutism, Weight loss, Lymphadenopathy, Macr... |
ORPHA:2221 |
| Aymé-Gripp Syndrome |
|
Limitation of joint mobility, Delayed cranial suture closure, Narrow mouth, Cryptorchidism, Hypop... |
ORPHA:1272 |
| Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Kyphosis, Downturned corners of mouth, Cerebral atrophy, Puberty and gonadal disorders, Obesity, ... |
ORPHA:464282 |
| Brachymorphism-Onychodysplasia-Dysphalangism Syndrome |
|
Toenail dysplasia, Hypoplastic fifth fingernail, Absent toenail, Generalized hirsutism, Biparieta... |
ORPHA:1292 |
| Wilson Disease |
|
Elevated circulating hepatic transaminase concentration, Hepatitis, Failure to thrive, Abnormalit... |
ORPHA:905 |
| X-Linked Agammaglobulinemia |
|
Recurrent pneumonia, Alopecia, Hepatitis, Failure to thrive, Hypopigmented skin patches, Osteomye... |
ORPHA:47 |
| Mucopolysaccharidosis, Type Vii |
|
Hypoplasia of the odontoid process, Limitation of joint mobility, Genu valgum, Short neck, Hepato... |
OMIM:253220 |
| Prune1-Related Neurological Syndrome |
|
Plagiocephaly, Cerebral atrophy, Micrognathia, Microcephaly, Thin corpus callosum, Scoliosis |
ORPHA:544469 |
| Distal Triplication 15Q |
|
Kyphosis, Retrognathia, Flexion contracture, Abnormal external genitalia, Micrognathia, Large for... |
ORPHA:314588 |
| Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Osteopenia, Alopecia, Increased circulating cortisol level, Primary hypercortisolism, Adrenal hyp... |
OMIM:615830 |
| Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Abnormal bone marrow cell morphology, Splenomegaly, Weight loss, Lymphadenopathy, Hepatomegaly |
ORPHA:86893 |
| Poems Syndrome |
|
Increased circulating prolactin concentration, Sclerosis of hand bone, Sclerosis of foot bone, Sc... |
ORPHA:2905 |
| Lathosterolosis |
|
Cerebral calcification, Micrognathia, Abnormal thoracic spine morphology, Abnormal platelet morph... |
ORPHA:46059 |
| Marshall Syndrome |
|
Thick upper lip vermilion, Cerebral calcification, Micrognathia, Genu valgum, Sparse eyelashes, H... |
ORPHA:560 |
| Schimmelpenning-Feuerstein-Mims Syndrome |
|
Precocious puberty, Osteopenia, Alopecia, Hypopigmentation of the skin, Hemimegalencephaly, Abnor... |
OMIM:163200 |
| Den Hoed-De Boer-Voisin Syndrome |
|
Small hand, Carious teeth, Lateral ventricle dilatation, Secondary microcephaly, Decreased body w... |
OMIM:619229 |
| Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Aspiration pneumonia, Neuronal loss in the cerebral cortex, Hepatomegaly, Plagiocephaly, Limb joi... |
OMIM:301072 |
| Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome |
|
Wide nasal bridge, Choanal atresia, Bifid nasal tip, Downturned corners of mouth, Underdeveloped ... |
ORPHA:521308 |
| Malan Overgrowth Syndrome |
|
Depressed nasal bridge, Plagiocephaly, Lateral ventricle dilatation, Hypoplasia of the brainstem,... |
ORPHA:420179 |
| Alexander Disease |
|
Precocious puberty, Osteopenia, Failure to thrive, Frontal bossing, Cerebral calcification, Agene... |
ORPHA:58 |
| Autosomal Recessive Robinow Syndrome |
|
Synostosis of carpal bones, Elbow dislocation, Open bite, Ankyloglossia, Micrognathia, Cryptorchi... |
ORPHA:1507 |
| Gaucher Disease Type 3 |
|
Osteolysis, Pancytopenia, Splenomegaly, Increased susceptibility to fractures, Hepatomegaly, Dela... |
ORPHA:77261 |
| Trisomy 9P |
|
Dental crowding, Downturned corners of mouth, Kyphosis, Hypoplastic fingernail, Impacted tooth, F... |
ORPHA:236 |
| Jaberi-Elahi Syndrome |
|
Depressed nasal bridge, Sparse eyebrow, Failure to thrive, Fine hair, Joint stiffness, Brittle ha... |
OMIM:617988 |
| Kagami-Ogata Syndrome |
|
Depressed nasal bridge, Hypoplasia of the maxilla, Frontal hirsutism, Retrognathia, Long philtrum... |
OMIM:608149 |
| Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Wide nasal bridge, Conical tooth, Dental malocclusion, Thick nasal alae, Persistence of primary t... |
OMIM:618727 |
| 6Q Terminal Deletion Syndrome |
|
Micrognathia, Hypoplasia of the corpus callosum, Short neck, Hypospadias, Hyperkeratosis, High, n... |
ORPHA:75857 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Slender build, Open mouth, Narrow mouth, Cryptorchidism, Thick corpus callosum, Patent ductus art... |
OMIM:300967 |
| Autosomal Recessive Spastic Paraplegia Type 53 |
|
Failure to thrive, Joint hypermobility, Microcephaly, Cortical dysplasia, Kyphosis |
ORPHA:319199 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Carpal synostosis, Micrognathia, Genu valgum, Decreased body weight, Short neck, Radial head subl... |
OMIM:271640 |
| Ritscher-Schinzel Syndrome 1 |
|
Depressed nasal bridge, Decreased response to growth hormone stimulation test, Micrognathia, Prom... |
OMIM:220210 |
| Smith-Lemli-Opitz Syndrome |
|
Clitoral hypertrophy, Aplasia/Hypoplasia of the corpus callosum, Micrognathia, Cryptorchidism, Sh... |
ORPHA:818 |
| Congenital Disorder Of Deglycosylation 1 |
|
Hepatic fibrosis, Small hand, Elevated circulating hepatic transaminase concentration, Anteverted... |
OMIM:615273 |
| Vulto-Van Silfhout-De Vries Syndrome |
|
Horizontal eyebrow, Fine hair, Thick lower lip vermilion, Frontal bossing, Tented upper lip vermi... |
OMIM:615828 |
| Cockayne Syndrome Type 2 |
|
Male hypogonadism, Widely spaced primary teeth, Hypermelanotic macule, Hypoplasia of the primary ... |
ORPHA:90322 |
| Tietz Syndrome |
|
Hypopigmentation of hair, Hypopigmentation of the skin, White eyebrow, Abnormality of skin pigmen... |
ORPHA:42665 |
| Hyperphosphatasia-Intellectual Disability Syndrome |
|
Small nail, Supernumerary nipple, Micrognathia, Short neck, High palate, Abnormal parietal bone m... |
ORPHA:247262 |
| Fibrochondrogenesis 1 |
|
Joint contracture of the hand, Hypoplastic scapulae, Small hand, Narrow mouth, Short neck, Short ... |
OMIM:228520 |
| Agnathia-Otocephaly Complex |
|
Microglossia, Tracheomalacia, Aglossia, Micrognathia, Narrow mouth, Wide nose, Agenesis of corpus... |
OMIM:202650 |
| Williams-Beuren Syndrome |
|
Small nail, Premature graying of hair, Open mouth, Radioulnar synostosis, Short nose, Osteopenia,... |
OMIM:194050 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Cerebellar vermis hypoplasia, Cerebral cortical atrophy, Congenital hip dislocation, Kyphosis, La... |
OMIM:618291 |
| Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Abnormal vertebral morphology, Abnormal hair morphology, Cryptorchidism, Agenesis of corpus callo... |
ORPHA:2273 |
| Gabriele-De Vries Syndrome |
|
Micrognathia, Frontal upsweep of hair, Cryptorchidism, Hypoplasia of the corpus callosum, Agenesi... |
ORPHA:506358 |
| Dietary Iron Overload Disease |
|
Hepatic bridging fibrosis, Hepatic fibrosis, Abnormal thyroid morphology, Hepatitis, Abnormal pan... |
ORPHA:139507 |
| Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome |
|
Osteoarthritis of the elbow, Wrist swelling, Short femoral neck, Camptodactyly of finger, Lumbar ... |
ORPHA:2848 |
| Diabetes Mellitus, Permanent Neonatal, 3 |
|
Hyperglycemia, Type I diabetes mellitus, Glycosuria |
OMIM:618857 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Protruding tongue, Cryptorchidism, Absent frontal sinuses, Hypospadias, Widely-spaced maxillary c... |
OMIM:301040 |
| Acrofrontofacionasal Dysostosis |
|
Cerebral cortical atrophy, Short distal phalanx of finger, Broad nasal tip, Micromelia, Bifid scr... |
ORPHA:1784 |
| Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability |
|
Microcephaly, Hyperlordosis, Scoliosis, Kyphosis, Spinal rigidity |
OMIM:617404 |
| Premature Aging Syndrome, Okamoto Type |
|
Depressed nasal bridge, Abnormal hair morphology, Microcephaly, Osteoporosis, Diabetes mellitus |
OMIM:601811 |
| Hennekam-Beemer Syndrome |
|
Pneumonia, Mastocytosis, Wide nasal bridge, Irregular hyperpigmentation, Failure to thrive, Thick... |
ORPHA:2135 |
| Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Platyspondyly, Depressed nasal bridge, Broad nasal tip, Hypoplasia of the odontoid process, Short... |
OMIM:300232 |
| Aneurysm-Osteoarthritis Syndrome |
|
Intervertebral disk degeneration, Knee osteoarthritis, High palate, Patent ductus arteriosus, Pro... |
ORPHA:284984 |
| 3M Syndrome |
|
Decreased fertility, Short neck, Everted lower lip vermilion, Hypospadias, Abnormality of the elb... |
ORPHA:2616 |
| Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Choanal atresia, Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Malar flatteni... |
ORPHA:93262 |
| Osteomesopyknosis |
|
Sclerotic vertebral body, Abnormal form of the vertebral bodies, Abnormal cortical bone morpholog... |
ORPHA:2777 |
| Pfapa Syndrome |
|
Splenomegaly, Abnormal oral cavity morphology, Weight loss, Lymphadenopathy, Arthritis, Recurrent... |
ORPHA:42642 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Hypoplasia of the maxilla, Slender build, Prominent nasal bridge, Macrocephaly, Pectus excavatum,... |
OMIM:300676 |
| Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome |
|
Wormian bones, Recurrent fractures |
ORPHA:2773 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Diffuse white matter abnormalities, Occipital encephalocele, Hypoplasia of the pons, Polymicrogyr... |
ORPHA:370959 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Abnormal vertebral morphology, Small hand, Aspiration pneumonia, Micrognathia, Abnormal toenail m... |
ORPHA:444077 |
| Fibrosis Of Extraocular Muscles, Congenital, 3C |
|
Thin upper lip vermilion, Highly arched eyebrow, Pectus excavatum, Kyphosis |
OMIM:609384 |
| Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Iris hypopigmentation, Cessation of head growth, Hypopigmentation of the skin, Obesity, Wide mout... |
ORPHA:411515 |
| Pyruvate Dehydrogenase E1-Beta Deficiency |
|
Abnormal calvaria morphology, Corticospinal tract hypoplasia, Hypoplasia of the brainstem, Perive... |
ORPHA:255138 |
| 16P13.11 Microdeletion Syndrome |
|
Depressed nasal bridge, Cleft upper lip, Camptodactyly of finger, Anteverted nares, Cryptorchidis... |
ORPHA:261236 |
| Amegakaryocytic Thrombocytopenia, Congenital, 2 |
|
Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia |
OMIM:620481 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Hypoplasia of the maxilla, Abnormality of the vertebral column, Malar flattening, Agenesis of cor... |
OMIM:109120 |
| Dyskeratosis Congenita, Autosomal Recessive 3 |
|
Bone marrow hypocellularity, Oral leukoplakia, Pancytopenia, Nail dystrophy, Squamous cell carcin... |
OMIM:613988 |
| Weiss-Kruszka Syndrome |
|
Highly arched eyebrow, Hypoplastic fingernail, Anteverted nares, Exaggerated cupid's bow, Hypopla... |
OMIM:618619 |
| Galactose Epimerase Deficiency |
|
Hepatomegaly, Jaundice, Weight loss, Splenomegaly |
ORPHA:79238 |
| Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Bone marrow hypocellularity, Type I diabetes mellitus, Hemophagocytosis, Agranulocytosis, Recurre... |
OMIM:301078 |
| Brain Malformations With Or Without Urinary Tract Defects |
|
Failure to thrive, Anteverted nares, Narrow mouth, Hypoplasia of the corpus callosum, Agenesis of... |
OMIM:613735 |
| Laryngeal Neuroendocrine Tumor |
|
Increased serum serotonin, Neuroendocrine neoplasm, Chronic noninfectious lymphadenopathy, Adreno... |
ORPHA:100083 |
| Coffin-Siris Syndrome 12 |
|
Velopharyngeal insufficiency, Small nail, Delayed cranial suture closure, Micrognathia, Cryptorch... |
OMIM:619325 |
| Orofaciodigital Syndrome V |
|
Bifid uvula, Hamartoma of tongue, Ankyloglossia, Agenesis of corpus callosum, Median cleft upper ... |
OMIM:174300 |
| Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Polymicrogyria, Narrow mouth, Agenesis of corpus callosum, Dysplastic corpus callosum, Microcepha... |
OMIM:614833 |
| Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Depressed nasal bridge, Plagiocephaly, Downturned corners of mouth, Bulbous nose, Obesity, Tented... |
OMIM:618430 |
| Bethlem Myopathy 2 |
|
Hip dislocation, Distal joint hypermobility, Scoliosis, Kyphosis, Flexion contracture |
OMIM:616471 |
| Intellectual Developmental Disorder, Autosomal Dominant 73 |
|
Premature adrenarche, Ankyloglossia, Cleft soft palate, Cryptorchidism, Thoracolumbar scoliosis, ... |
OMIM:620450 |
| Refractory Celiac Disease |
|
Normocytic anemia, Elevated circulating hepatic transaminase concentration, Microcytic anemia, Ab... |
ORPHA:398063 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Insulin-resistant diabetes mellitus, Delayed cranial suture closure, Hyperinsulinemia, Micrognath... |
OMIM:248370 |
| Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Velopharyngeal insufficiency, Radioulnar synostosis, Vertebral clefting, Short nose, Submucous cl... |
OMIM:614701 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 12 |
|
Thick lower lip vermilion, Thick upper lip vermilion, Wide mouth, Brachycephaly, Mandibular progn... |
OMIM:309545 |
| Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome |
|
Pancytopenia, Splenomegaly |
OMIM:614979 |
| Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
|
Dental crowding, Long philtrum, Cerebral atrophy, Persistent open anterior fontanelle, Narrow mou... |
OMIM:615539 |
| Microhydranencephaly |
|
Hydranencephaly, Hypoplasia of the brainstem, Prominent nasal bridge, Multiple joint contractures... |
OMIM:605013 |
| Estrogen Resistance Syndrome |
|
Delayed epiphyseal ossification, Osteopenia, Absence of secondary sex characteristics, Breast hyp... |
ORPHA:785 |
| Otopalatodigital Syndrome Type 2 |
|
Synostosis of carpal bones, Elbow dislocation, Carpal synostosis, Fibular aplasia, Micrognathia, ... |
ORPHA:90652 |
| Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type |
|
Velopharyngeal insufficiency, Micrognathia, Absent toenail, Patellar dislocation, Finger joint hy... |
OMIM:620663 |
| Baralle-Macken Syndrome |
|
High, narrow palate, Global brain atrophy, Obesity, Hirsutism, Microcephaly, Cafe-au-lait spot, K... |
OMIM:619255 |
| X-Linked Intellectual Disability, Wilson Type |
|
Mandibular prognathia, Lateral ventricle dilatation, Abnormal position of hair whorl, Microcephal... |
ORPHA:85290 |
| Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Abnormal corpus callosum morphology, Congenital hip dislocation, Plagiocephaly, Lateral ventricle... |
ORPHA:457279 |
| Aregenerative Anemia |
|
Bone marrow hypocellularity, Abnormal bone marrow cell morphology, Pancytopenia, Decreased propor... |
ORPHA:101096 |
| Marden-Walker Syndrome |
|
Micrognathia, Narrow mouth, Agenesis of corpus callosum, Radioulnar synostosis, Hypospadias, Epis... |
ORPHA:2461 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia1 |
|
Carious teeth, Yellow-brown discoloration of the teeth, Enamel hypomineralization, Amelogenesis i... |
OMIM:204700 |
| Orofaciodigital Syndrome Type 5 |
|
High, narrow palate, Bifid uvula, Scoliosis, Absent cupid's bow, Cleft soft palate, Agenesis of c... |
ORPHA:2919 |
| Angelman Syndrome |
|
Cerebral cortical atrophy, Hypoplasia of the maxilla, Mandibular prognathia, Hypopigmentation of ... |
OMIM:105830 |
| Revesz Syndrome |
|
Bone marrow hypocellularity, Ridged fingernail, Aplastic anemia, Oral leukoplakia, Fine hair, Cer... |
OMIM:268130 |
| Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome |
|
Short distal phalanx of finger, Cerebral hypoplasia, Hypoplasia of the brainstem, Small basal gan... |
ORPHA:86822 |
| 2Q31.1 Microdeletion Syndrome |
|
Abnormal hair morphology, Micrognathia, Cryptorchidism, Short neck, Everted lower lip vermilion, ... |
ORPHA:251014 |
| Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Irregular menstruation, Alopecia, Pituitary adenoma, Increased circulating cortisol level, Neuroe... |
ORPHA:189427 |
| Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Decreased serum estradiol, Anosmia, Decreased circulating gonadotropin concentration, Decreased s... |
OMIM:614841 |
| Kallmann Syndrome-Heart Disease Syndrome |
|
Partial anosmia, Pulmonary artery hypoplasia, Osteopenia, Bilateral cryptorchidism, Decreased tes... |
ORPHA:2326 |
| Immunodeficiency 27A |
|
Pneumonia, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Hypoplasia of the femoral head, Weight... |
OMIM:209950 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Wide nasal bridge, Anisospondyly, Occipital encephalocele, Micromelia, Pterygium, Micrognathia, N... |
OMIM:224410 |
| X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Wide nasal base, Tooth malposition, Flared nostrils, Small hand, Limitation of joint mobility, Hy... |
ORPHA:480880 |
| Corpus Callosum, Partial Agenesis Of, X-Linked |
|
Inferior cerebellar vermis hypoplasia, Dislocated radial head, Hypoplasia of the corpus callosum,... |
OMIM:304100 |
| Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis |
|
Osteoporosis |
OMIM:204730 |
| Crouzon Syndrome |
|
Lambdoidal craniosynostosis, Coronal craniosynostosis, Hypoplasia of the maxilla, Dental crowding... |
OMIM:123500 |
| Myasthenic Syndrome, Congenital, 25, Presynaptic |
|
Joint hypermobility, Flexion contracture, Scoliosis, Kyphosis, Spinal rigidity |
OMIM:618323 |
| Loeys-Dietz Syndrome 3 |
|
Intervertebral disk degeneration, Knee osteoarthritis, High palate, Patent ductus arteriosus, Pro... |
OMIM:613795 |
| Wrinkly Skin Syndrome |
|
Carious teeth, Cryptorchidism, High palate, Sparse hair, Cerebellar vermis hypoplasia, Osteopenia... |
ORPHA:2834 |
| Metatropic Dysplasia |
|
Platyspondyly, Depressed nasal bridge, Anisospondyly, Hypoplasia of the odontoid process, Caudal ... |
OMIM:156530 |
| Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Depressed nasal bridge, Plagiocephaly, Frontal bossing, Bulbous nose, Open mouth, Cryptorchidism,... |
OMIM:616789 |
| Thanatophoric Dysplasia Type 2 |
|
Platyspondyly, Depressed nasal bridge, Kyphosis, Micromelia, Limitation of joint mobility, Enceph... |
ORPHA:93274 |
| Idiopathic Congenital Hypothyroidism |
|
Depressed nasal bridge, Elevated circulating thyroid-stimulating hormone concentration, Large pos... |
ORPHA:95717 |
| Intellectual Developmental Disorder, Autosomal Dominant 22 |
|
Depressed nasal bridge, Highly arched eyebrow, Micrognathia, Agenesis of corpus callosum, Thin up... |
OMIM:612337 |
| Idiopathic Aplastic Anemia |
|
Gingival bleeding, Bone marrow hypocellularity, Epistaxis, Pancytopenia, Reticulocytopenia, Neutr... |
ORPHA:88 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
Toenail dysplasia, Hypoplasia of the corpus callosum, Short neck, Prominent coccyx, Sparse hair, ... |
OMIM:300966 |
| Chromosome 2Q37 Deletion Syndrome |
|
Depressed nasal bridge, Highly arched eyebrow, Broad nasal tip, Short toe, Obesity, Anteverted na... |
OMIM:600430 |
| Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Supernumerary nipple, Slender build, Open mouth, Cryptorchidism, Hypoplasia of the corpus callosu... |
ORPHA:466791 |
| Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Scoliosis, Kyphosis |
OMIM:617087 |
| Gaucher Disease, Perinatal Lethal |
|
Everted upper lip vermilion, Hepatosplenomegaly, Micrognathia, Open mouth, Narrow mouth, Neonatal... |
OMIM:608013 |
| Polycythemia Vera |
|
Gingival bleeding, Epistaxis, Acute leukemia, Polycythemia, Leukocytosis, Splenomegaly, Portal hy... |
ORPHA:729 |
| Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Kyphosis, Arthrogryposis multiplex congenita, Cryptorchidism, Kyphoscoliosis, Flexion contracture... |
OMIM:618484 |
| Acth-Independent Macronodular Adrenal Hyperplasia |
|
Osteopenia, Increased circulating cortisol level, Decreased circulating ACTH concentration, Macro... |
OMIM:219080 |
| Cowden Syndrome 1 |
|
Lymphopenia, Micrognathia, Narrow mouth, Ovarian cyst, High palate, Varicocele, Hypoplasia of the... |
OMIM:158350 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8 |
|
Arthrogryposis multiplex congenita, Elbow flexion contracture, Knee flexion contracture, Hip cont... |
OMIM:600175 |
| Bosma Arhinia Microphthalmia Syndrome |
|
Hypospadias, Choanal atresia, Cleft lip, Dental malocclusion, Anosmia, Cryptorchidism, Hypogonado... |
OMIM:603457 |
| Joubert Syndrome With Renal Defect |
|
Cerebellar vermis hypoplasia, Highly arched eyebrow, Polymicrogyria, Anteverted nares, Prominent ... |
ORPHA:220497 |
| Aplastic Anemia |
|
Bone marrow hypocellularity, Aplastic anemia |
OMIM:609135 |
| Alkuraya-Kucinskas Syndrome |
|
Small scrotum, Depressed nasal bridge, Plagiocephaly, Hypoplasia of the brainstem, Aplasia/Hypopl... |
OMIM:617822 |
| Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Plagiocephaly, Abnormal lung lobation, Tooth agenesis, Abnormality of the wrist, Micrognathia, Cr... |
ORPHA:2063 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Narrow palate, Elevated circulating hepatic transaminase concentration, Polymicrogyria, Intracere... |
OMIM:608836 |
| Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Flexion contracture, Kyphosis, Failure to thrive, Neonatal death |
OMIM:618237 |
| Joubert Syndrome With Ocular Defect |
|
Abnormal vertebral morphology, Cerebellar vermis hypoplasia, Highly arched eyebrow, Polymicrogyri... |
ORPHA:220493 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Clitoral hypertrophy, Hypopigmented skin patches, Micrognathia, Agenesis of corpus callosum, Male... |
ORPHA:2556 |
| Ovarian Dysgenesis 8 |
|
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Eunuchoid habitus, Hyp... |
OMIM:618187 |
| Monosomy 22Q13.3 |
|
Wide nasal bridge, Dental crowding, Dental malocclusion, Umbilical hernia, Bulbous nose, Obesity,... |
ORPHA:48652 |
| Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Abnormal hair whorl, Plagiocephaly, Anteverted nares, Open mouth, Prominent metopic ridge, Hypopl... |
ORPHA:457284 |
| Cdkl5-Deficiency Disorder |
|
Deep philtrum, Everted lower lip vermilion, Thick vermilion border, Scoliosis, Kyphosis, Synophrys |
ORPHA:505652 |
| Ullrich Congenital Muscular Dystrophy |
|
Kyphosis, Elbow flexion contracture, Wrist hypermobility, Micrognathia, Increased laxity of finge... |
ORPHA:75840 |
| Gm1-Gangliosidosis, Type Iii |
|
Platyspondyly, Hypoplastic acetabulae, Kyphosis, Splenomegaly, Diffuse cerebral atrophy, Hepatome... |
OMIM:230650 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Natal tooth, Short tibia, Cryptorchidism, Encephalocele, Flat acetabular roof, Patent ductus arte... |
OMIM:616300 |
| Grubben-De Cock-Borghgraef Syndrome |
|
Abnormality of the dentition, Partial agenesis of the corpus callosum, Short neck, Small hand |
ORPHA:2101 |
| Mucopolysaccharidosis, Type Ii |
|
Recurrent pneumonia, Delayed eruption of teeth, Thick lower lip vermilion, Widely spaced teeth, U... |
OMIM:309900 |
| Amelogenesis Imperfecta, Type Ic |
|
Yellow-brown discoloration of the teeth, Enamel hypomineralization, Taurodontia, Amelogenesis imp... |
OMIM:204650 |
| Neurodevelopmental Disorder With Seizures And Brain Abnormalities |
|
Lateral ventricle dilatation, Retinal pigment epithelial mottling, Tented upper lip vermilion, Th... |
OMIM:619517 |
| Femoral-Facial Syndrome |
|
Micrognathia, Humeroradial synostosis, Cryptorchidism, Encephalocele, Agenesis of corpus callosum... |
OMIM:134780 |
| Amelogenesis Imperfecta, Type Ih |
|
Dental enamel pits, Yellow-brown discoloration of the teeth, Amelogenesis imperfecta, Enamel hypo... |
OMIM:616221 |
| Fgfr2-Related Bent Bone Dysplasia |
|
Incomplete ossification of pubis, Coronal craniosynostosis, Clitoral hypertrophy, Osteopenia, Nat... |
ORPHA:313855 |
| Xp21 Deletion Syndrome |
|
Adrenal insufficiency, Primary adrenal insufficiency, Agenesis of corpus callosum, Joint hypermob... |
ORPHA:261476 |
| Idiopathic Hypereosinophilic Syndrome |
|
Hepatosplenomegaly, Chronic hepatitis, Neutrophilia, Myeloproliferative disorder, Portal fibrosis... |
ORPHA:3260 |
| Down Syndrome |
|
Atlantoaxial dislocation, Narrow mouth, Protruding tongue, Open mouth, Acute megakaryocytic leuke... |
ORPHA:870 |
| Cerebrooculonasal Syndrome |
|
Encephalocele, Hypoplasia of the corpus callosum, Sparse eyelashes, High palate, U-Shaped upper l... |
OMIM:605627 |
| Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Iris hypopigmentation, Depressed nasal bridge, Abnormal bone marrow cell morphology, Limitation o... |
ORPHA:2719 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
|
Knee flexion contracture, Hip contracture, Hyperlordosis, Achilles tendon contracture, Pectus exc... |
OMIM:615290 |
| Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Lambdoidal craniosynostosis, Choanal atresia, Depressed nasal bridge, Coronal craniosynostosis, L... |
OMIM:207410 |
| Walker-Warburg Syndrome |
|
Bifid uvula, Abnormal cortical gyration, Polymicrogyria, Absent septum pellucidum, Submucous clef... |
ORPHA:899 |
| Tsh-Secreting Pituitary Adenoma |
|
Increased circulating prolactin concentration, Central adrenal insufficiency, Decreased fertility... |
ORPHA:91347 |
| Kbg Syndrome |
|
Cryptorchidism, Low posterior hairline, Short neck, Widely-spaced maxillary central incisors, Ver... |
OMIM:148050 |
| Pituitary Adenoma 4, Acth-Secreting |
|
Pituitary adenoma, Increased circulating ACTH level, Obesity, Biconcave vertebral bodies, Hirsuti... |
OMIM:219090 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Carious teeth, Periodontitis, Osteomalacia, Open bite, Micrognathia, Open mouth, Cryptorchidism, ... |
ORPHA:534 |
| 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Abnormal vertebral morphology, Abnormality of the vertebral column, Failure to thrive, Agenesis o... |
OMIM:250620 |
| Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Highly arched eyebrow, Plagiocephaly, Downturned corners of mouth, Malar flattening, Hypoplastic ... |
ORPHA:94066 |
| Primary Sclerosing Cholangitis |
|
Cholestasis, Acute hepatic failure, Hepatosplenomegaly, Abnormal biliary tract morphology, Cirrho... |
ORPHA:171 |
| Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Congenital hip dislocation, Osteopenia, Scoliosis, Congenital kyphoscoliosis, Atlantoaxial instab... |
ORPHA:536545 |
| Gorlin Syndrome |
|
Wide nasal bridge, Abnormal vertebral morphology, Carious teeth, Vertebral wedging, Frontal bossi... |
ORPHA:377 |
| Dpagt1-Cdg |
|
Cerebral cortical atrophy, Global brain atrophy, Elevated circulating hepatic transaminase concen... |
ORPHA:86309 |
| Warburg Micro Syndrome 2 |
|
Small scrotum, Global brain atrophy, Polymicrogyria, Secondary microcephaly, Prominent nasal brid... |
OMIM:614225 |
| Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia |
|
Wide nasal bridge, Optic nerve hypoplasia, Broad nasal tip, Hypoplasia of the pons, Long philtrum... |
OMIM:300749 |
| Chronic Graft Versus Host Disease |
|
Alopecia, Elevated circulating hepatic transaminase concentration, Abnormal vagina morphology, Pa... |
ORPHA:99921 |
| Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections |
|
Osteoporosis, Eosinophilia, Recurrent respiratory infections |
OMIM:620532 |
| Diaphanospondylodysostosis |
|
Depressed nasal ridge, Depressed nasal bridge, Unossified sacrum, Tracheomalacia, Polymicrogyria,... |
OMIM:608022 |
| Marshall-Smith Syndrome |
|
Choanal atresia, Retrognathia, Failure to thrive, Anteverted nares, Gingival overgrowth, Open mou... |
ORPHA:561 |
| Aicardi Syndrome |
|
Small hand, Prominence of the premaxilla, Hepatoblastoma, Precocious puberty, Plagiocephaly, Poly... |
ORPHA:50 |
| Acromelic Frontonasal Dysostosis |
|
Short tibia, Hypopituitarism, Tubulonodular pericallosal lipoma, Hypoplasia of the corpus callosu... |
OMIM:603671 |
| Non-Syndromic Bicoronal Craniosynostosis |
|
Brachycephaly, Metacarpal synostosis |
ORPHA:35099 |
| Roberts Syndrome |
|
Clitoral hypertrophy, Synostosis of carpal bones, Micrognathia, Cryptorchidism, Patellar aplasia,... |
ORPHA:3103 |
| Muenke Syndrome |
|
High, narrow palate, Coronal craniosynostosis, Plagiocephaly, Hypopigmented skin patches, Hyperme... |
ORPHA:53271 |
| Melnick-Needles Syndrome |
|
Tooth malposition, Craniofacial hyperostosis, Short distal phalanx of finger, Anisospondyly, Dela... |
ORPHA:2484 |
| Lysosomal Acid Lipase Deficiency |
|
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Failu... |
ORPHA:275761 |
| X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Plagiocephaly, Diffuse cerebral atrophy, Microcephaly, Brachycephaly, Flat occiput |
ORPHA:2898 |
| Ritscher-Schinzel Syndrome 2 |
|
Wide anterior fontanel, Pulmonary artery hypoplasia, Short distal phalanx of finger, Camptodactyl... |
OMIM:300963 |
| Crimean-Congo Hemorrhagic Fever |
|
Gingival bleeding, Pancytopenia, Neutrophilia, Hepatomegaly, Jaundice, Epididymitis, Diffuse alve... |
ORPHA:99827 |
| Microphthalmia, Syndromic 3 |
|
Frontal bossing, Butterfly vertebrae, Cryptorchidism, Hypoplasia of the corpus callosum, Agenesis... |
OMIM:206900 |
| Septo-Optic Dysplasia Spectrum |
|
Anosmia, Obesity, Absent septum pellucidum, Cryptorchidism, Agenesis of corpus callosum, Aplasia/... |
ORPHA:3157 |
| Marbach-Rustad Progeroid Syndrome |
|
Eruption failure, Micrognathia, Narrow mouth, Delayed eruption of primary teeth, Short clavicles,... |
OMIM:619322 |
| Autosomal Recessive Kenny-Caffey Syndrome |
|
Small hand, Carious teeth, Delayed cranial suture closure, Decreased skull ossification, Microcep... |
ORPHA:93324 |
| Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Hydranencephaly, Polymicrogyria, Hypoplasia of the brainstem, Pterygium, Micrognathia, Agenesis o... |
OMIM:225790 |
| Meningioma |
|
Increased circulating prolactin concentration, Neoplasm of the posterior pituitary, Enlarged pitu... |
ORPHA:2495 |
| Intellectual Developmental Disorder, X-Linked 1 |
|
Secondary microcephaly, Brachycephaly |
OMIM:309530 |
| Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development |
|
Small scrotum, Depressed nasal bridge, Cerebral atrophy, Long philtrum, Breast hypoplasia, Long e... |
OMIM:601353 |
| Cerebrofaciothoracic Dysplasia |
|
Cerebellar vermis hypoplasia, Cerebral cortical atrophy, Coarse hair, Cleft upper lip, Short nose... |
ORPHA:1394 |
| Rhyns Syndrome |
|
Osteopenia, Decreased response to growth hormone stimulation test, Thickened calvaria, Reduced ci... |
OMIM:602152 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Aplastic clavicle, Abnormal cortical gyration, Plagiocephaly, Failure to thrive, Elbow dislocatio... |
ORPHA:2538 |
| Spinocerebellar Ataxia 23 |
|
Agenesis of corpus callosum |
OMIM:610245 |
| Genitopalatocardiac Syndrome |
|
Wide nasal bridge, Kyphosis, Downturned corners of mouth, Abnormal mesentery morphology, Abnormal... |
ORPHA:2075 |
| Sifrim-Hitz-Weiss Syndrome |
|
Bifid uvula, Trigonocephaly, Cryptorchidism, Short clavicles, Hypogonadotropic hypogonadism, Worm... |
OMIM:617159 |
| Gm1-Gangliosidosis, Type I |
|
Depressed nasal ridge, Hypertrichosis, Joint stiffness, Gingival overgrowth, Splenomegaly, Hypopl... |
OMIM:230500 |
| Hurler-Scheie Syndrome |
|
Depressed nasal bridge, Umbilical hernia, Camptodactyly of finger, Contracture of the distal inte... |
OMIM:607015 |
| Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Microglossia, Aplasia/Hypoplasia involving the nose, Narrow mouth, Agenesis of corpus callosum, A... |
ORPHA:990 |
| Gorlin-Chaudhry-Moss Syndrome |
|
Abnormality of the dentition, Hypoplasia of the maxilla, Coronal craniosynostosis, Short distal p... |
ORPHA:2095 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Hip dislocation, Shallow acetabular fossae, Aplastic anemia, Limited pronation/supination of fore... |
OMIM:605432 |
| Angelman Syndrome Due To A Point Mutation |
|
Iris hypopigmentation, Cessation of head growth, Mandibular prognathia, Hypopigmentation of the s... |
ORPHA:411511 |
| Restrictive Dermopathy 1 |
|
Natal tooth, Micrognathia, Narrow mouth, Large fontanelles, Neonatal death, Sparse eyelashes, Abs... |
OMIM:275210 |
| Kury-Isidor Syndrome |
|
Alopecia, Long philtrum, Widely spaced teeth, Hypertrichosis, Anteverted nares, Tented upper lip ... |
OMIM:619762 |
| Hemophagocytic Syndrome Associated With An Infection |
|
Elevated circulating hepatic transaminase concentration, Hemophagocytosis, Pancytopenia, Abnormal... |
ORPHA:158048 |
| Tarp Syndrome |
|
Extramedullary hematopoiesis, Micrognathia, Large fontanelles, Cryptorchidism, Pierre-Robin seque... |
ORPHA:2886 |
| Osteogenesis Imperfecta, Type Xxi |
|
Platyspondyly, Barrel-shaped chest, Joint hypermobility, Wormian bones, Osteoporosis, Scoliosis, ... |
OMIM:619131 |
| Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Aplasia of the thymus, Short neck, Hypoparathyroidism, Patent ductus arteriosus, Cleft lip, Broad... |
OMIM:618223 |
| Acute Myelomonocytic Leukemia |
|
Leukocytosis, Eosinophilia, Weight loss, Thrombocytopenia, Anemia, Abnormality of the gingiva |
ORPHA:517 |
| Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Alopecia, Downturned corners of mouth, Decreased testicular size, Cleft soft palate, Leukocytosis... |
OMIM:619321 |
| Smith-Mccort Dysplasia 1 |
|
Platyspondyly, Hypoplastic facial bones, Hypoplastic scapulae, Hypoplastic acetabulae, Hypoplasia... |
OMIM:607326 |
| Mandibuloacral Dysplasia Progeroid Syndrome |
|
Delayed cranial suture closure, Micrognathia, Narrow mouth, Genu valgum, Intra-oral hyperpigmenta... |
OMIM:619127 |
| Noonan Syndrome 14 |
|
High, narrow palate, Sparse eyebrow, Kyphosis, Lateral ventricle dilatation, Long philtrum, Lymph... |
OMIM:619745 |
| Lysinuric Protein Intolerance |
|
Intraalveolar phospholipid accumulation, Hemophagocytosis, Failure to thrive, Fine hair, Leukopen... |
OMIM:222700 |
| 1p36 microdeletion syndrome |
|
Delayed cranial suture closure |
DECIPHER:18 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Tooth malposition, Hypoplastic anterior commissure, Lateral ventricle dilatation, Secondary micro... |
ORPHA:261552 |
| Methylmalonic Aciduria And Homocystinuria, Cblx Type |
|
Microcephaly, Brachycephaly, Failure to thrive |
OMIM:309541 |
| Tafro Syndrome |
|
Hepatosplenomegaly, Pleural effusion, Splenomegaly, Leukocytosis, Hepatomegaly, Increased megakar... |
ORPHA:457077 |
| Sickle Cell Anemia |
|
Splenic infarction, Cholelithiasis, Hypochromic anemia, Increased mean corpuscular volume, Pigmen... |
ORPHA:232 |
| Microphthalmia, Syndromic 9 |
|
Wide nasal bridge, Agenesis of pulmonary vessels, Multilobulated spleen, Alveolar capillary dyspl... |
OMIM:601186 |
| Subaortic Stenosis-Short Stature Syndrome |
|
Synostosis of carpal bones, Obesity, Micrognathia, Type II diabetes mellitus, Anteverted nares, B... |
ORPHA:3191 |
| Fountain Syndrome |
|
Craniofacial hyperostosis, Short distal phalanx of finger, Coarse metaphyseal trabecularization, ... |
ORPHA:3219 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Wide nasal bridge, Anisospondyly, Limitation of joint mobility, Micromelia, Pterygium, Micrognath... |
ORPHA:1865 |
| Congenital Muscular Dystrophy, Fukuyama Type |
|
Plagiocephaly, Camptodactyly of finger, Type II lissencephaly, Aplasia/Hypoplasia of the corpus c... |
ORPHA:272 |
| Meier-Gorlin Syndrome 7 |
|
Clitoral hypertrophy, Narrow mouth, Cryptorchidism, Decreased body weight, Aplasia/Hypoplasia of ... |
OMIM:617063 |
| Tetrasomy 5P |
|
Wide nasal bridge, Failure to thrive, Long philtrum, Short nose, Anteverted nares, Micrognathia, ... |
ORPHA:3309 |
| Genitopatellar Syndrome |
|
Small scrotum, Clitoral hypertrophy, Micrognathia, Enlarged labia minora, Cryptorchidism, Hip con... |
OMIM:606170 |
| Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Congenital hip dislocation, Joint contracture of the hand, Foot joint contracture, Failure to thr... |
ORPHA:456312 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Contracture of the distal interphalangeal joint of the fingers, Micrognathia, Narrow mouth, Crypt... |
ORPHA:83617 |
| Amelogenesis Imperfecta, Type Iiic |
|
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion... |
OMIM:618386 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia2 |
|
Amelogenesis imperfecta, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth... |
OMIM:612529 |
| Osteogenesis Imperfecta, Type Xxii |
|
Dentinogenesis imperfecta, Multiple small vertebral fractures, Decreased circulating osteocalcin ... |
OMIM:619795 |
| Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Hepatic failure, Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis,... |
OMIM:203700 |
| Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Tud Deficiency |
|
Brachycephaly |
ORPHA:404493 |
| Aicardi Syndrome |
|
Lateral ventricle dilatation, Prominence of the premaxilla, Hepatoblastoma, Precocious puberty, C... |
OMIM:304050 |
| Mucolipidosis Type Iii Alpha/Beta |
|
Depressed nasal bridge, Recurrent upper respiratory tract infections, Umbilical hernia, Joint sti... |
ORPHA:423461 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Persistence of hemoglobin F, Hepatosplenomegaly, Anemia of inadequate production, Weight loss, Po... |
OMIM:613673 |
| Megalocornea-Intellectual Disability Syndrome |
|
Wide nasal bridge, Osteopenia, Kyphosis, Micrognathia, Open mouth, Joint hypermobility, Short phi... |
ORPHA:2479 |
| Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome |
|
Cerebral cortical atrophy, Hip subluxation, Hypoplasia of the pons, Hypoplasia of the optic tract... |
ORPHA:500144 |
| Immunodeficiency 12 |
|
Recurrent aphthous stomatitis, Decreased body weight, Abnormal lymphocyte count, Osteoporosis, Re... |
OMIM:615468 |
| Reticular Dysgenesis |
|
Abnormality of neutrophils, Aplasia/Hypoplasia of the thymus, Failure to thrive, Leukopenia, Weig... |
ORPHA:33355 |
| Holoprosencephaly 12 With Or Without Pancreatic Agenesis |
|
Depressed nasal bridge, Type I diabetes mellitus, Hypoplasia of the zygomatic bone, Long philtrum... |
OMIM:618500 |
| Marinesco-Sjogren Syndrome |
|
Kyphosis, Failure to thrive, Microcephaly, Cubitus valgus, Short metatarsal, Scoliosis, Short met... |
OMIM:248800 |
| Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Frontal bossing, Decreased response to growth hormone stimulation test, Hypoplasia of the corpus ... |
OMIM:617260 |
| Familial Thyroid Dyshormonogenesis |
|
Thyroid defect in oxidation and organification of iodide, Depressed nasal bridge, Elevated circul... |
ORPHA:95716 |
| Cole-Carpenter Syndrome 1 |
|
Dentinogenesis imperfecta, Coronal craniosynostosis, Osteopenia, Orbital craniosynostosis, Microg... |
OMIM:112240 |
| Osteogenesis Imperfecta, Type Xi |
|
Dentinogenesis imperfecta, Osteopenia, Vertebral wedging, Increased susceptibility to fractures, ... |
OMIM:610968 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Arthrogryposis multiplex congenita, Cholestasis, Hepatosplenomegaly, Cleft soft palate, Micrognat... |
OMIM:619503 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Abnormal vertebral morphology, 11 pairs of ribs, Cryptorchidism, Agenesis of corpus callosum, Hem... |
ORPHA:77298 |
| Mandibuloacral Dysplasia |
|
Alopecia, Dental crowding, Contractures of the large joints, Insulin-resistant diabetes mellitus,... |
ORPHA:2457 |
| Leigh Syndrome |
|
Diffuse spongiform leukoencephalopathy, Neuronal loss in basal ganglia, Hepatic failure, Frontal ... |
ORPHA:506 |
| Mowat-Wilson Syndrome |
|
Tooth malposition, Genu valgum, Open mouth, Cryptorchidism, Hypoplasia of the corpus callosum, Fo... |
ORPHA:2152 |
| Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features |
|
Wide nasal bridge, Highly arched eyebrow, Abnormal vertebral morphology, Downturned corners of mo... |
OMIM:616728 |
| Cleidocranial Dysplasia, Recessive Form |
|
Brachycephaly |
OMIM:216330 |
| Cooper-Jabs Syndrome |
|
Camptodactyly of finger, Umbilical hernia, Anteverted nares, Reduced bone mineral density, Malar ... |
ORPHA:1488 |
| Intellectual Developmental Disorder, Autosomal Dominant 74 |
|
Prominent nose, Thin upper lip vermilion, Microcephaly, Brachycephaly, Smooth philtrum |
OMIM:620688 |
| Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Choanal atresia, Plagiocephaly, Retrognathia, Hypertrichosis, Butterfly vertebrae, Submucous clef... |
OMIM:619227 |
| Otopalatodigital Syndrome, Type I |
|
Synostosis of carpal bones, Narrow mouth, Absent frontal sinuses, Short hallux, Dislocated radial... |
OMIM:311300 |
| Orofaciodigital Syndrome Type 4 |
|
Aplasia/Hypoplasia of the tibia, Abnormal joint morphology, Micrognathia, Perineal fistula, Absen... |
ORPHA:2753 |
| Antley-Bixler Syndrome |
|
Choanal atresia, Hypoplasia of the zygomatic bone, Long philtrum, Delayed cranial suture closure,... |
ORPHA:83 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Tooth malposition, Lateral ventricle dilatation, Secondary microcephaly, Genu valgum, Open mouth,... |
ORPHA:261537 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Hypoplasia of the brainstem, Type II lissencephaly, Agenesis of corpus callosum, Cerebellar hypop... |
OMIM:615249 |
| Brain-Lung-Thyroid Syndrome |
|
Recurrent pneumonia, Elevated circulating thyroid-stimulating hormone concentration, Failure to t... |
ORPHA:209905 |
| 46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Decreased serum estradiol, Male hypogonadism, Abnormal vagina morphology, Gonadal dysgenesis, Abn... |
ORPHA:168563 |
| Congenital Myopathy 22B, Severe Fetal |
|
Micrognathia, Hip contracture, Short neck, Hepatomegaly, High palate, Short nose, Spinal rigidity... |
OMIM:620369 |
| Stromme Syndrome |
|
Accessory spleen, Cerebellar vermis hypoplasia, Wide nasal bridge, Short columella, Micrognathia,... |
OMIM:243605 |
| Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Wide nasal bridge, Microretrognathia, Plagiocephaly, Hypoplasia of the zygomatic bone, Frontal bo... |
OMIM:613603 |
| Coach Syndrome 2 |
|
Hepatic fibrosis, Cerebellar vermis hypoplasia, Portal fibrosis, Elevated circulating hepatic tra... |
OMIM:619111 |
| Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay |
|
Wide nasal bridge, Platelet anisocytosis, Broad nasal tip, Horizontal eyebrow, Umbilical hernia, ... |
OMIM:620475 |
| Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Carious teeth, High palate, Sparse hair, Short nose, Broad nasal tip, Polymicrogyria, Generalized... |
ORPHA:357074 |
| 8Q12 Microduplication Syndrome |
|
Wide nasal bridge, Highly arched eyebrow, Long philtrum, Narrow mouth, Brachycephaly, Everted low... |
ORPHA:228399 |
| Ritscher-Schinzel Syndrome 3 |
|
Cerebellar vermis hypoplasia, Highly arched eyebrow, Short 1st metacarpal, Short first metatarsal... |
OMIM:619135 |
| Vici Syndrome |
|
Cerebral cortical atrophy, Hypopigmentation of the skin, Hypoplasia of the pons, Depressed nasal ... |
ORPHA:1493 |
| Polymicrogyria With Optic Nerve Hypoplasia |
|
Hypoplasia of the brainstem, Polymicrogyria, Agenesis of corpus callosum, Dysplastic corpus callo... |
ORPHA:250972 |
| Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Platyspondyly, Rhizomelia, Dental malocclusion, Increased hepatic echogenicity, Short finger, Joi... |
OMIM:608940 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Frontal balding, Micrognathia, Short neck, High palate, Patent ductus arteriosus, Bulbous nose, T... |
OMIM:612474 |
| Cornelia De Lange Syndrome |
|
Small hand, Elbow dislocation, Micrognathia, Cryptorchidism, Generalized hirsutism, Radioulnar sy... |
ORPHA:199 |
| Ovarian Dysgenesis 2 |
|
Streak ovary, Hirsutism, Delayed puberty, Primary amenorrhea, Premature ovarian insufficiency, Hy... |
OMIM:300510 |
| Frontofacionasal Dysplasia |
|
Choanal atresia, Depressed nasal ridge, Bifid nasal tip, Depressed nasal bridge, Aplasia/Hypoplas... |
ORPHA:1791 |
| Thanatophoric Dysplasia Type 1 |
|
Platyspondyly, Depressed nasal bridge, Kyphosis, Micromelia, Joint stiffness, Abnormal sacroiliac... |
ORPHA:1860 |
| Congenital Disorder Of Deglycosylation 2 |
|
Genu recurvatum, Cerebellar vermis hypoplasia, Highly arched eyebrow, Polymicrogyria, Hamartoma o... |
OMIM:619775 |
| Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Cerebral cortical atrophy, Recurrent pneumonia, Congenital hip dislocation, Plagiocephaly, Sparse... |
ORPHA:496641 |
| Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Plagiocephaly, Retrognathia, Trigonocephaly, Micrognathia, Decreased body weight, Decreased calva... |
OMIM:618265 |
| Cartilage-Hair Hypoplasia |
|
Sparse eyebrow, Hypoplasia of the odontoid process, Fair hair, Fine hair, Lymphopenia, Lumbar hyp... |
OMIM:250250 |
| Crisponi Syndrome |
|
Limitation of joint mobility, Long philtrum, Camptodactyly of finger, Flexion contracture, Anteve... |
ORPHA:1545 |
| Mucopolysaccharidosis Type 4 |
|
Platyspondyly, Abnormality of the dentition, Carious teeth, Joint dislocation, Spinal canal steno... |
ORPHA:582 |
| X Small Rings |
|
Long philtrum, Upper limb undergrowth, Anteverted nares, Lower limb undergrowth, Joint hypermobil... |
ORPHA:96201 |
| Adnp Syndrome |
|
Cryptorchidism, Hypoplasia of the corpus callosum, Focal white matter lesions, Abnormality of the... |
ORPHA:404448 |
| Pallister-Killian Syndrome |
|
Hyperpigmented streaks, Small scrotum, Small hand, Sparse scalp hair, Supernumerary nipple, Secon... |
OMIM:601803 |
| Mody |
|
Glycosuria, Insulin-resistant diabetes mellitus, Hyperglycemia, Glucose intolerance, Transient ne... |
ORPHA:552 |
| Cerebrotendinous Xanthomatosis |
|
Osteopenia, Cholelithiasis, Global brain atrophy, Myelopathy, Abnormality of the vertebral spinou... |
ORPHA:909 |
| Amelogenesis Imperfecta, Type Ie |
|
Amelogenesis imperfecta, Enamel hypoplasia, Anterior open-bite malocclusion, Abnormal dentin morp... |
OMIM:301200 |
| Stevenson-Carey Syndrome |
|
Joint contracture of the hand, Downturned corners of mouth, Underdeveloped nasal alae, Anteverted... |
OMIM:611961 |
| Melas |
|
Cerebral cortical atrophy, Aplasia/Hypoplasia of the cerebral white matter, Type I diabetes melli... |
ORPHA:550 |
| Traboulsi Syndrome |
|
Bifid uvula, Dental malocclusion, Retrognathia, Short finger, Prominent nose, Prominent nasal bri... |
OMIM:601552 |
| Arthrogryposis And Ectodermal Dysplasia |
|
Trichiasis, Joint contracture of the hand, Arthrogryposis multiplex congenita, Cleft upper lip, A... |
OMIM:601701 |
| Microcephaly 20, Primary, Autosomal Recessive |
|
Small cerebral cortex, Optic nerve hypoplasia, Hypoplasia of the corpus callosum, Agenesis of cor... |
OMIM:617914 |
| Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Abnormality of the dentition, Dental crowding, Eruption failure, Long philtrum, Failure to thrive... |
ORPHA:476126 |
| Pseudotrisomy 13 Syndrome |
|
Cleft upper lip, Polymicrogyria, 11 pairs of ribs, Median cleft palate, Cryptorchidism, Encephalo... |
OMIM:264480 |
| Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Tooth malposition, Periodontitis, Elbow dislocation, Micrognathia, Cryptorchidism, High palate, L... |
ORPHA:536532 |
| Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Depressed nasal bridge, Long philtrum, Micrognathia, Narrow mouth, Hypoplasia of the corpus callo... |
OMIM:156610 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Elbow contracture, Microcephaly, Abnormal cerebral white matter morphology, Vertebral fusion, Hyp... |
OMIM:606612 |
| Acro-Renal-Mandibular Syndrome |
|
Hypoplastic scapulae, Rudimentary fibula, Micrognathia, Short neck, High palate, Hip dislocation,... |
ORPHA:958 |
| Microcephaly 13, Primary, Autosomal Recessive |
|
Small hand, Prominent nose, Micrognathia, Cerebellar hypoplasia, Microcephaly, Primary microcepha... |
OMIM:616051 |
| Monosomy 9Q22.3 |
|
Delayed eruption of teeth, Long philtrum, Umbilical hernia, Abnormality of the vertebral column, ... |
ORPHA:77301 |
| Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures |
|
Small hand, Hypoplasia of the pons, Micrognathia, Narrow mouth, Chordee, Patent ductus arteriosus... |
OMIM:620455 |
| Albinism, Oculocutaneous, Type Ib |
|
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:606952 |
| Microcephaly 3, Primary, Autosomal Recessive |
|
Small cerebral cortex, Widely spaced teeth, Prominent nose, Microcephaly, Primary microcephaly, P... |
OMIM:604804 |
| Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features |
|
Plagiocephaly, Umbilical hernia, Supernumerary nipple, Open mouth, Tented upper lip vermilion, Jo... |
OMIM:616579 |
| Cowden Syndrome 5 |
|
Hypoplasia of the maxilla, Thyroid adenoma, Goiter, Furrowed tongue, Micrognathia, Narrow mouth, ... |
OMIM:615108 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Bone marrow hypocellularity, Hyperostosis cranialis interna, Leukopenia, Thrombocytopenia, Myelof... |
OMIM:231095 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Wide nasal bridge, Cerebral cortical atrophy, Short distal phalanx of finger, Broad nasal tip, Pl... |
OMIM:239300 |
| Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Small nail, Cleft mandible, Everted lower lip vermilion, Short nose, Pierre-Robin sequence, Abnor... |
ORPHA:364577 |
| Cowden Syndrome 6 |
|
Varicocele, Hypoplasia of the maxilla, Thyroid adenoma, Goiter, Furrowed tongue, Micrognathia, Na... |
OMIM:615109 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Biventricular hypertrophy, Dextrotransposition of the great arteries, Abnormal pulmonary valve mo... |
ORPHA:860 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Precocious puberty, Osteopenia, High anterior hairline, Retrognathia, Increased circulating prola... |
ORPHA:438213 |
| T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Anemia, Splenomegaly, Pancytopenia, Hemophagocytosis |
OMIM:618398 |
| Subependymal Nodular Heterotopia |
|
Focal cortical dysplasia, Occipital encephalocele, Polymicrogyria, Myelomeningocele, Meningocele,... |
ORPHA:101030 |
| Campomelic Dysplasia |
|
Delayed epiphyseal ossification, Hypoplastic scapulae, Carious teeth, Hypoplastic cervical verteb... |
OMIM:114290 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Cerebellar vermis hypoplasia, Hepatic fibrosis, Depressed nasal bridge, Elevated circulating hepa... |
OMIM:212065 |
| Mucolipidosis Type Ii |
|
Dry hair, Limitation of joint mobility, White hair, Hepatosplenomegaly, Hip contracture, Weight l... |
ORPHA:576 |
| Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency |
|
Cerebellar vermis hypoplasia, Synophrys, Mild microcephaly, Agenesis of corpus callosum |
ORPHA:453521 |
| Developmental And Epileptic Encephalopathy 1 |
|
Micropenis, Microcephaly, Global brain atrophy, Plagiocephaly |
OMIM:308350 |
| Hermansky-Pudlak Syndrome 2 |
|
Carious teeth, Periodontitis, Enlarged platelet dense granules, Hepatosplenomegaly, Decreased CD4... |
OMIM:608233 |
| Craniosynostosis 2 |
|
Unicoronal synostosis, Trigonocephaly, Cleft soft palate, Bicoronal synostosis, Turricephaly, Wor... |
OMIM:604757 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Cerebral cortical atrophy, Cessation of head growth, Abnormal cortical gyration, Failure to thriv... |
OMIM:617527 |
| Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Short neck, Hyperlordosis, Flexion contracture, Scoliosis, Kyphosis, Spinal rigidity |
OMIM:300718 |
| Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Posterior plagiocephaly, Genu valgum, Frontal upsweep of hair, Cryptorchidism, Joint hypermobilit... |
OMIM:617798 |
| Perrault Syndrome 3 |
|
Elevated circulating luteinizing hormone level, Streak ovary, Microcephaly, Elevated circulating ... |
OMIM:614129 |
| Ring Chromosome 7 Syndrome |
|
Small hand, Narrow naris, Genu valgum, Narrow mouth, Lumbar kyphoscoliosis, Hypospadias, Short no... |
ORPHA:1449 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Variable Seizures |
|
Plagiocephaly, Dental crowding, Hirsutism, Frontal bossing, Synophrys |
OMIM:619264 |
| Diamond-Blackfan Anemia 1 |
|
Persistence of hemoglobin F, Delayed cranial suture closure, Micrognathia, Short neck, Neutropeni... |
OMIM:105650 |
| Tenosynovial Giant Cell Tumor |
|
Chondrocalcinosis, Abnormality of the ankle, Limitation of joint mobility, Multiple lentigines, L... |
ORPHA:66627 |
| Khan-Khan-Katsanis Syndrome |
|
Cerebellar vermis hypoplasia, Highly arched eyebrow, Trichiasis, Pigmentary retinopathy, Failure ... |
OMIM:618460 |
| Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Osteopenia, Decreased circulating dehydroepiandrosterone concentration, Kyphosis, Increased circu... |
OMIM:610489 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Occipital encephalocele, Congenital contracture, Cleft upper lip, Polymicrogyria, Type II lissenc... |
OMIM:236670 |
| Microcephaly-Micromelia Syndrome |
|
Absent thumb, Short tibia, Micromelia, Aplasia/Hypoplasia of the corpus callosum, Simplified gyra... |
OMIM:251230 |
| Houge-Janssens Syndrome 3 |
|
Broad nasal tip, Plagiocephaly, Hypoplasia of the brainstem, Umbilical hernia, Hypoplasia of the ... |
OMIM:618354 |
| Pleural Mesothelioma |
|
Abnormal pleura morphology, Pleural effusion, Weight loss, Lymphadenopathy, Hepatomegaly, Abnorma... |
ORPHA:50251 |
| Stickler Syndrome, Type I |
|
Platyspondyly, Bifid uvula, Depressed nasal bridge, Anteverted nares, Micrognathia, Joint stiffne... |
OMIM:108300 |
| Follicular Lymphoma |
|
Pleural effusion, Splenomegaly, Weight loss, Lymphadenopathy, Abnormal peritoneum morphology, Med... |
ORPHA:545 |
| Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Hypoplastic scapulae, Small nail, Micrognathia, Parakeratosis, Thyroid hypoplasia, Absent toe, Ap... |
OMIM:308050 |
| Occipital Horn Syndrome |
|
Platyspondyly, Coarse hair, Long philtrum, Persistent open anterior fontanelle, Genu valgum, Limi... |
OMIM:304150 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Short forearm, Carpal synostosis, Hepatosplenomegaly, Micrognathia, Fibular aplasia, Patellar apl... |
OMIM:274000 |
| Isolated Follicle Stimulating Hormone Deficiency |
|
Decreased serum estradiol, Male hypogonadism, Sparse pubic hair, Decreased serum testosterone con... |
ORPHA:52901 |
| Developmental And Epileptic Encephalopathy 31B |
|
Reduced cerebral white matter volume, Failure to thrive, Secondary microcephaly, Gingival overgro... |
OMIM:620352 |
| Bardet-Biedl Syndrome |
|
Hydrometrocolpos, Type II diabetes mellitus, Cryptorchidism, Hepatic steatosis, Polycystic ovarie... |
ORPHA:110 |
| Hoyeraal-Hreidarsson Syndrome |
|
Cerebral cortical atrophy, Bone marrow hypocellularity, Generalized hypopigmentation of hair, Ora... |
ORPHA:3322 |
| Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement |
|
Joint contracture of the hand, Hypoplastic anterior commissure, Dysgenesis of the basal ganglia, ... |
OMIM:600638 |
| Syndromic Diarrhea |
|
Lymphopenia, Hepatoblastoma, Cirrhosis, Brittle hair, Hepatomegaly, Patent ductus arteriosus, Abn... |
ORPHA:84064 |
| Osteogenesis Imperfecta, Type Xvi |
|
Platyspondyly, Osteopenia, Rhizomelia, Microretrognathia, Tooth agenesis, Recurrent fractures, De... |
OMIM:616229 |
| Familial Adenomatous Polyposis 4 |
|
Ovarian cyst, Uterine leiomyoma |
OMIM:617100 |
| Intestinal Dysmotility Syndrome |
|
Broad philtrum, Weight loss, Failure to thrive, High palate |
OMIM:620045 |
| Helsmoortel-Van Der Aa Syndrome |
|
Posterior plagiocephaly, Carious teeth, Small hand, Lateral ventricle dilatation, Ankyloglossia, ... |
OMIM:615873 |
| Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 1 |
|
Plagiocephaly, Hypoplasia of the pons, Cerebellar hypoplasia, Thoracolumbar scoliosis, Macrocephaly |
OMIM:607313 |
| Orofaciodigital Syndrome Type 14 |
|
Microretrognathia, Open operculum, Lobulated tongue, Bilateral cryptorchidism, Hamartoma of tongu... |
ORPHA:434179 |
| Corpus Callosum Agenesis-Neuronopathy Syndrome |
|
Abnormality of retinal pigmentation, Turricephaly, Agenesis of corpus callosum, Microcephaly, Cra... |
ORPHA:1496 |
| Cushing Syndrome Due To Ectopic Acth Secretion |
|
Small cell lung carcinoma, Increased circulating cortisol level, Abnormal lymph node morphology, ... |
ORPHA:99889 |
| Orofaciodigital Syndrome Xiv |
|
Natal tooth, Occipital encephalocele, Micrognathia, Cryptorchidism, Hypoplasia of the corpus call... |
OMIM:615948 |
| Cerebrooculonasal Syndrome |
|
Hypoplasia of penis, Sparse eyebrow, Long philtrum, Widely spaced teeth, Microdontia, Solitary me... |
ORPHA:66625 |
| Robinow Syndrome, Autosomal Dominant 1 |
|
Small hand, Micrognathia, Short lingual frenulum, Cryptorchidism, Short hard palate, Hypoplastic ... |
OMIM:180700 |
| Congenital Disorder Of Glycosylation, Type Iit |
|
Small hand, Prominent nasal bridge, Tented upper lip vermilion, Microcephaly, Brachycephaly, Iron... |
OMIM:618885 |
| Osteosclerosis With Ichthyosis And Premature Ovarian Failure |
|
Premature ovarian insufficiency, Hypoplasia of the ovary, Subperiosteal bone formation, Osteoscle... |
OMIM:609993 |
| 19P13.13 Microdeletion Syndrome |
|
Depressed nasal bridge, Anteverted nares, Long eyelashes, Narrow mouth, Malar flattening, Hypopla... |
ORPHA:357001 |
| Allergic Bronchopulmonary Aspergillosis |
|
Cerebral cortical atrophy, Abnormal eosinophil morphology, Emphysema, Abnormal fingernail morphol... |
ORPHA:1164 |
| Ullrich Congenital Muscular Dystrophy 1A |
|
Spinal rigidity, Kyphosis, Failure to thrive, Flexion contracture, Slender build, Wrist hypermobi... |
OMIM:254090 |
| Cushing Disease |
|
Increased circulating cortisol level, Increased urinary cortisol level, Lymphopenia, Adrenal hype... |
ORPHA:96253 |
| Classic Hodgkin Lymphoma |
|
Bone marrow hypocellularity, Splenomegaly, Weight loss, Lymphadenopathy, Hepatomegaly, Osteolysis |
ORPHA:391 |
| Phosphoribosylaminoimidazole Carboxylase Deficiency |
|
Lumbar hemivertebrae, Choanal atresia, Depressed nasal bridge, Bilateral choanal atresia, Bilater... |
OMIM:619859 |
| Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Elevated circulating hepatic transaminase concentration, Dental crowding, Joint stiffness, Genu v... |
ORPHA:394 |
| Ovarian Hyperstimulation Syndrome |
|
Increased circulating gonadotropin level, Enlarged polycystic ovaries, Hemorrhagic ovarian cyst, ... |
ORPHA:64739 |
| Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Abnormal pelvis bone ossification, Micrognathia, Cryptorchidism, Congenital hepatic fibrosis, Age... |
ORPHA:93271 |
| Microphthalmia With Brain And Digit Anomalies |
|
Inferior cerebellar vermis hypoplasia, Cryptorchidism, Agenesis of corpus callosum, Microcephaly,... |
ORPHA:139471 |
| Arboleda-Tham Syndrome |
|
Enlarged proximal interphalangeal joints, Genu valgum, Narrow mouth, Short hallux, Genu varum, Pa... |
OMIM:616268 |
| 1Q41Q42 Microdeletion Syndrome |
|
Depressed nasal bridge, Broad nasal tip, Small nail, Underdeveloped nasal alae, Cryptorchidism, S... |
ORPHA:250999 |
| Atelosteogenesis Type Ii |
|
Wide nasal base, Hypoplastic cervical vertebrae, Elbow dislocation, Micrognathia, Genu valgum, Bi... |
ORPHA:56304 |
| Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation |
|
Depressed nasal bridge, High anterior hairline, Horizontal eyebrow, Tracheomalacia, Cerebral atro... |
OMIM:618797 |
| Bone Marrow Failure Syndrome 5 |
|
Oral leukoplakia, Hypogonadism, Nail dystrophy, Reticular hyperpigmentation, Erythroid hypoplasia... |
OMIM:618165 |
| Cystic Fibrosis |
|
Osteopenia, Nasal polyposis, Decreased body mass index, Absent vas deferens, Failure to thrive, E... |
ORPHA:586 |
| Dysosteosclerosis |
|
Natal tooth, Absent paranasal sinuses, Sclerosis of hand bone, Micrognathia, Increased interverte... |
OMIM:224300 |
| Renpenning Syndrome 1 |
|
Joint contracture of the hand, Micrognathia, Narrow mouth, Brittle hair, High palate, Sparse hair... |
OMIM:309500 |
| Semilobar Holoprosencephaly |
|
Aspiration pneumonia, Agenesis of corpus callosum, High palate, Hip dislocation, Neural tube defe... |
ORPHA:220386 |
| Alobar Holoprosencephaly |
|
Aspiration pneumonia, Agenesis of corpus callosum, High palate, Hip dislocation, Neural tube defe... |
ORPHA:93925 |
| Midline Interhemispheric Variant Of Holoprosencephaly |
|
Aspiration pneumonia, Agenesis of corpus callosum, High palate, Hip dislocation, Neural tube defe... |
ORPHA:93926 |
| Lobar Holoprosencephaly |
|
Aspiration pneumonia, Agenesis of corpus callosum, High palate, Hip dislocation, Neural tube defe... |
ORPHA:93924 |
| Aspartylglucosaminuria |
|
Beaking of vertebral bodies, Neutropenia, Hepatomegaly, Cerebral atrophy, Hypoplastic frontal sin... |
OMIM:208400 |
| Castleman Disease |
|
Myelofibrosis, Follicular hyperplasia, Generalized lymphadenopathy, Weight loss, Lymphadenopathy,... |
ORPHA:160 |
| Atelis Syndrome 2 |
|
Kyphosis, Downturned corners of mouth, Diastema, Thick lower lip vermilion, Elevated circulating ... |
OMIM:620185 |
| Gray Platelet Syndrome |
|
Epistaxis, Abnormal number of alpha granules, Splenomegaly, Thrombocytopenia, Myelofibrosis, Meno... |
OMIM:139090 |
| Aica-Ribosiduria Due To Atic Deficiency |
|
Clitoral hypertrophy, Frontal bossing, Anteverted nares, Prominent nasal bridge, Thin upper lip v... |
OMIM:608688 |
| 7Q31 Microdeletion Syndrome |
|
Hypoplasia of the maxilla, Hypoplasia of the olfactory bulb, Plagiocephaly, Long philtrum, Promin... |
ORPHA:251061 |
| Orofaciodigital Syndrome Ii |
|
Bifid nasal tip, Hypoplasia of the maxilla, Broad nasal tip, Depressed nasal bridge, Lobulated to... |
OMIM:252100 |
| Crouzon Syndrome With Acanthosis Nigricans |
|
Choanal atresia, Brachycephaly, Craniosynostosis, Melanocytic nevus |
OMIM:612247 |
| Fetal Akinesia Deformation Sequence |
|
Depressed nasal bridge, Arthrogryposis multiplex congenita, Camptodactyly of finger, Pterygium, M... |
ORPHA:994 |
| Chromosome 13Q14 Deletion Syndrome |
|
Umbilical hernia, Supernumerary nipple, Bulbous nose, Micrognathia, Absent septum pellucidum, Hyp... |
OMIM:613884 |
| Richieri-Costa/Guion-Almeida Syndrome |
|
Cleft upper lip, Malar flattening, Microcephaly, Brachycephaly, Pectus excavatum, Spina bifida oc... |
OMIM:268850 |
| Glutathionuria |
|
Agenesis of corpus callosum |
OMIM:231950 |
| Intellectual Developmental Disorder, Autosomal Dominant 58 |
|
Wide nasal bridge, Broad nasal tip, Dental crowding, Plagiocephaly, Few cafe-au-lait spots, Protr... |
OMIM:618106 |
| Cleidocranial Dysplasia 2 |
|
Short distal phalanx of finger, Hypoplasia of the maxilla, Plagiocephaly, Aplastic clavicle, Fail... |
OMIM:620099 |
| Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Small scrotum, Anosmia, Sparse pubic hair, Decreased serum testosterone concentration, Decreased ... |
OMIM:308700 |
| Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Wide nasal bridge, Depressed nasal bridge, Broad nasal tip, Lateral ventricle dilatation, Ankle c... |
OMIM:619995 |
| Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Irregular menstruation, Depressed nasal bridge, Mesomelia, Rhizomelia, Platyspondyly, Lumbar hype... |
OMIM:616482 |
| Waardenburg-Shah Syndrome |
|
Wide nasal bridge, Abnormality of the nose, Underdeveloped nasal alae, Premature graying of hair,... |
ORPHA:897 |
| Trichorhinophalangeal Syndrome, Type Ii |
|
Carious teeth, Hyperplasia of the maxilla, Hydrometrocolpos, Micrognathia, Lumbar scoliosis, Thor... |
OMIM:150230 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Hypoplastic scapulae, Short lingual frenulum, High palate, Sparse hair, Flat acetabular roof, Hyp... |
OMIM:614091 |
| Developmental And Epileptic Encephalopathy 65 |
|
Highly arched eyebrow, Plagiocephaly, Cerebral atrophy, Tented upper lip vermilion, Microcephaly |
OMIM:618008 |
| Intellectual Developmental Disorder, Autosomal Dominant 29 |
|
Narrow palate, Dental crowding, Long philtrum, Ankyloglossia, Obesity, Lumbar hyperlordosis, Open... |
OMIM:616078 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Interstitial emphysema, Hypoplasia of the pons, Rectovaginal fistula, Polymicrogyria, Kyphosis, L... |
OMIM:619708 |
| Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypopituitarism, Agenesis of corpu... |
ORPHA:95494 |
| Orofaciodigital Syndrome Vi |
|
Cerebellar vermis hypoplasia, Broad nasal tip, Short femur, Lobulated tongue, Cleft upper lip, Po... |
OMIM:277170 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 2 |
|
Wide nasal bridge, Peripheral pulmonary artery stenosis, Broad nasal tip, Plagiocephaly, Hypoplas... |
OMIM:614749 |
| Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
|
Plagiocephaly, Dental crowding, Lateral ventricle dilatation, Cerebral atrophy, Partial agenesis ... |
OMIM:617296 |
| Progressive Non-Infectious Anterior Vertebral Fusion |
|
Wide nasal bridge, Depressed nasal bridge, Scoliosis, Kyphosis, Abnormality of the vertebral colu... |
ORPHA:2062 |
| Osteogenesis Imperfecta, Type Ii |
|
Platyspondyly, Recurrent fractures, Large fontanelles, Wormian bones, Limb undergrowth, Absent os... |
OMIM:166210 |
| Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Small scrotum, Clitoral hypertrophy, Decreased circulating dehydroepiandrosterone concentration, ... |
OMIM:201750 |
| Roberts-Sc Phocomelia Syndrome |
|
Clitoral hypertrophy, Hyperplasia of the maxilla, Narrow naris, Micrognathia, Enlarged labia mino... |
OMIM:268300 |
| Spondyloepiphyseal Dysplasia, Maroteaux Type |
|
Platyspondyly, Atlantoaxial instability, Genu valgum, Kyphoscoliosis, Short neck, Generalized ost... |
OMIM:184095 |
| Fucosidosis |
|
Abnormality of the dentition, Abnormality of the nail, Kyphosis, Failure to thrive, Generalized h... |
ORPHA:349 |
| Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Carious teeth, Coarse hair, Camptodactyly of finger, Joint contracture of the 5th finger, Hyperke... |
ORPHA:1883 |
| Spondyloepimetaphyseal Dysplasia, Genevieve Type |
|
Hypoplasia of the corpus callosum, Low posterior hairline, Carpal bone hypoplasia, Short neck, Ad... |
OMIM:610442 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Weight loss, Lymphadenop... |
ORPHA:3226 |
| Encephalocraniocutaneous Lipomatosis |
|
Peripheral pulmonary artery stenosis, Alopecia, Linear hyperpigmentation, Cryptorchidism, Hypopla... |
OMIM:613001 |
| Parietal Foramina 1 |
|
Parietal foramina, Cleft upper lip, Encephalocele, Wormian bones, Macrocephaly, Cleft palate |
OMIM:168500 |
| Srd5A3-Cdg |
|
Elevated circulating hepatic transaminase concentration, Palmoplantar keratoderma, Spotty hyperpi... |
ORPHA:324737 |
| Hypohidrotic Ectodermal Dysplasia |
|
Abnormality of the dentition, Hypoplasia of the maxilla, Generalized hypopigmentation of hair, Ir... |
ORPHA:238468 |
| Hip Dysplasia, Beukes Type |
|
Kyphosis, Abnormal ossification involving the femoral head and neck, Abnormal bone ossification, ... |
ORPHA:2114 |
| Halperin-Birk Syndrome |
|
Failure to thrive, Umbilical hernia, Long eyelashes, Micrognathia, Agenesis of corpus callosum, C... |
OMIM:618651 |
| Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Abnormal penis morphology, Depressed nasal ridge, Abnormal cortical gyration, Wide nasal bridge, ... |
ORPHA:2211 |
| White-Sutton Syndrome |
|
Cerebral cortical atrophy, Depressed nasal bridge, Broad nasal tip, Hypoplasia of the pons, Downt... |
ORPHA:468678 |
| Cardiofacioneurodevelopmental Syndrome |
|
Aplasia/Hypoplasia of the nails, Cerebellar vermis hypoplasia, Cleft lip, Abdominal situs inversu... |
OMIM:619123 |
| Combined Oxidative Phosphorylation Deficiency 24 |
|
Microcephaly, Gliosis, Hypoplasia of the corpus callosum, Agenesis of corpus callosum |
OMIM:616239 |
| Birk-Landau-Perez Syndrome |
|
Failure to thrive in infancy, Long eyelashes, Agenesis of corpus callosum, Microcephaly, Camptoco... |
OMIM:617595 |
| Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Narrow naris, Short neck, High palate, Sparse hair, Short metacarpal, Short nose, Broad nasal tip... |
OMIM:617157 |
| Dyggve-Melchior-Clausen Disease |
|
Hypoplastic scapulae, Hypoplasia of the odontoid process, Limitation of joint mobility, Genu valg... |
OMIM:223800 |
| Cono-Spondylar Dysplasia |
|
Short nail, Short 4th toe, Failure to thrive, Anteverted nares, Short humerus, Short neck, Partia... |
ORPHA:420794 |
| Wilson Disease |
|
Osteomalacia, Acute hepatic failure, Hepatic steatosis, Cirrhosis, Elevated circulating alanine a... |
OMIM:277900 |
| Sialidosis Type 1 |
|
Wide nasal bridge, Abnormal form of the vertebral bodies, Thick lower lip vermilion, Splenomegaly... |
ORPHA:812 |
| Bardet-Biedl Syndrome 8 |
|
Hypogonadism, Brachycephaly, Obesity, Hypospadias |
OMIM:615985 |
| Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome |
|
Obesity, Plagiocephaly, Hypoplasia of the corpus callosum |
ORPHA:521390 |
| Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Sparse eyebrow, Broad nasal tip, Plagiocephaly, Aplasia/Hypoplasia involving bones of the skull, ... |
ORPHA:1521 |
| Thrombocytopenia 6 |
|
Myelofibrosis, Bone marrow hypercellularity, Spontaneous, recurrent epistaxis, Thrombocytopenia, ... |
OMIM:616937 |
| Melnick-Needles Syndrome |
|
Tooth malposition, Hypoplastic scapulae, Delayed cranial suture closure, Micrognathia, Genu valgu... |
OMIM:309350 |
| 14Q22Q23 Microdeletion Syndrome |
|
Small scrotum, Downturned corners of mouth, Underdeveloped nasal alae, Short 5th metacarpal, Micr... |
ORPHA:264200 |
| Cole-Carpenter Syndrome |
|
Delayed eruption of teeth, Abnormal form of the vertebral bodies, Abnormal dental enamel morpholo... |
ORPHA:2050 |
| Baller-Gerold Syndrome |
|
Finger aplasia, Aplasia/Hypoplasia of the radius, Brachyturricephaly, Failure to thrive in infanc... |
ORPHA:1225 |
| Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Neutrophilia, Elevated circulating hepatic transaminase concentration, Abnormal lymph node morpho... |
ORPHA:54251 |
| Campomelic Dysplasia |
|
Small abnormally formed scapulae, Depressed nasal bridge, Kyphosis, Tracheomalacia, 11 pairs of r... |
ORPHA:140 |
| Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Hepatomegaly, Weight loss, Palmoplantar keratoderma |
ORPHA:2198 |
| Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
|
Abnormal spinal cord morphology |
ORPHA:139578 |
| Mucopolysaccharidosis Type 6 |
|
Recurrent upper respiratory tract infections, Failure to thrive, Thick lower lip vermilion, Thick... |
ORPHA:583 |
| Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Progressive congenital scoliosis, Depressed nasal bridge, Recurrent pneumonia, Congenital hip dis... |
OMIM:225400 |
| Autosomal Recessive Faciodigitogenital Syndrome |
|
Dry hair, Coarse hair, Long philtrum, Frontal bossing, Open bite, Anteverted nares, Micrognathia,... |
ORPHA:1974 |
| Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures |
|
Obesity, Plagiocephaly, Macrocephaly |
OMIM:618725 |
| Toriello-Lacassie-Droste Syndrome |
|
Abnormal penis morphology, Failure to thrive, Short nose, Anteverted nares, Generalized hyperpigm... |
ORPHA:3339 |
| Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Short 5th toe, Cleft soft palate, Cryptorchidism, Hypoplasia of the corpus callosum, Chordee, Ost... |
ORPHA:268261 |
| Combined Oxidative Phosphorylation Deficiency 12 |
|
Leukoencephalopathy, Failure to thrive, Cholestasis, Elevated circulating aspartate aminotransfer... |
OMIM:614924 |
| Ehlers-Danlos Syndrome, Dermatosparaxis Type |
|
Gingival bleeding, Osteopenia, Short toe, Spontaneous neonatal pneumothorax, Umbilical hernia, Re... |
OMIM:225410 |
| Idiopathic Hypercalciuria |
|
Osteoporosis, Osteopenia |
ORPHA:2197 |
| Plaa-Associated Neurodevelopmental Disorder |
|
Leukoencephalopathy, Abnormal cortical gyration, Failure to thrive, Long philtrum, Contractures o... |
ORPHA:521426 |
| Short Syndrome |
|
Wide nasal bridge, Abnormality of the dentition, Alopecia, Abnormal mandible morphology, Abnormal... |
ORPHA:3163 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type |
|
Delayed epiphyseal ossification, Premature osteoarthritis, Genu valgum, Aplasia/hypoplasia of the... |
ORPHA:93360 |
| Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Abnormal vertebral morphology, Craniofacial osteosclerosis, Osteomyelitis, Hyperostosis, Weight l... |
ORPHA:324964 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Cryptorchidism, Hypoplasia of the corpus callosum, Anterior pituitary hypoplasia, Hypospadias, Pa... |
ORPHA:464306 |
| Parathyroid Carcinoma |
|
Chondrocalcinosis, Elevated circulating parathyroid hormone level, Parathyroid carcinoma, Pancrea... |
ORPHA:143 |
| Short-Rib Thoracic Dysplasia 12 |
|
Hypoplastic scapulae, Natal tooth, Neonatal death, Short neck, Hepatomegaly, Short foot, Patent d... |
OMIM:269860 |
| Chime Syndrome |
|
Acute leukemia, Sparse hair, Short foot, Hyperkeratosis, Hip dislocation, Depressed nasal ridge, ... |
ORPHA:3474 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Increased pituitary glycoprotein hormone alpha subunit level, Depressed nasal bridge, Failure to ... |
ORPHA:90674 |
| Otofaciocervical Syndrome 2, With T-Cell Deficiency |
|
Wide nasal bridge, Microretrognathia, Carious teeth, Dental malocclusion |
OMIM:615560 |
| Waardenburg Syndrome |
|
Wide nasal bridge, Abnormal vagina morphology, Abnormality of the uterus, Abnormal lip morphology... |
ORPHA:3440 |
| Spastic Paraplegia 46, Autosomal Recessive |
|
Cerebral atrophy, Hypoplasia of the corpus callosum, Ankle clonus, Infertility, Scoliosis, Kyphosis |
OMIM:614409 |
| Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Neuropathic spinal arthropathy, Decreased mitochondrial number, Microcephaly, Kyphosis, Hypergona... |
ORPHA:352447 |
| Distal Deletion 15Q |
|
Small hand, Small nail, Micrognathia, Genu valgum, Cryptorchidism, Hypospadias, Hip dislocation, ... |
ORPHA:1596 |
| Solitary Fibrous Tumor |
|
Uterine neoplasm, Vaginal neoplasm, Hypophosphatemic rickets, Prostate cancer, Low back pain, Neo... |
ORPHA:2126 |
| Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant |
|
Joint contracture of the hand, Dental malocclusion, Small nail, Micrognathia, Malar flattening, C... |
OMIM:608257 |
| Familial Osteodysplasia, Anderson Type |
|
Tooth malposition, Carious teeth, Elbow dislocation, Aplasia/hypoplasia of the femur, Long nose, ... |
ORPHA:2769 |
| Curry-Jones Syndrome |
|
High anterior hairline, Lip pit, Unicoronal synostosis, Polymicrogyria, Hemimegalencephaly, Bicor... |
OMIM:601707 |
| Anemia, Sideroblastic, And Spinocerebellar Ataxia |
|
Howell-Jolly bodies, Abnormal basal ganglia MRI signal intensity, Sideroblastic anemia, Pappenhei... |
OMIM:301310 |
| Undifferentiated Pleomorphic Sarcoma |
|
Weight loss, Abnormal peritoneum morphology |
ORPHA:2023 |
| Hydrolethalus Syndrome 2 |
|
Micrognathia, Anencephaly, Cleft palate, Agenesis of corpus callosum |
OMIM:614120 |
| Amyotrophic Lateral Sclerosis |
|
Cachexia, Tongue atrophy |
ORPHA:803 |
| Kaposi Sarcoma |
|
Abnormality of the spleen, Abnormality of the liver, Generalized lymphadenopathy, Weight loss, Ab... |
ORPHA:33276 |
| Hartsfield Syndrome |
|
Hypoplasia of the frontal bone, Cleft upper lip, Cryptorchidism, Agenesis of corpus callosum, Med... |
OMIM:615465 |
| Hutchinson-Gilford Progeria Syndrome |
|
Limitation of joint mobility, Ankyloglossia, Alopecia totalis, Micrognathia, Short lingual frenul... |
ORPHA:740 |
| Mitochondrial Dna Depletion Syndrome 11 |
|
Spinal rigidity, Microcephaly, Kyphosis, Hypergonadotropic hypogonadism, Neuropathic spinal arthr... |
OMIM:615084 |
| Fliedner-Zweier Syndrome |
|
Long philtrum, Bulbous nose, Obesity, Hypoplasia of the corpus callosum, Joint hypermobility, Mic... |
OMIM:620511 |
| Inflammatory Pseudotumor Of The Liver |
|
Elevated circulating aspartate aminotransferase concentration, Biliary tract abnormality, Neoplas... |
ORPHA:90003 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Depressed nasal bridge, Short distal phalanx of finger, Cerebral atrophy, Long philtrum, Short no... |
OMIM:614080 |
| Hutchinson-Gilford Progeria Syndrome |
|
Alopecia, Micrognathia, Malar flattening, Generalized osteoporosis, Osteolysis |
OMIM:176670 |
| Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity |
|
Cerebral cortical atrophy, Hypoplasia of the pons, Agenesis of corpus callosum, Cerebellar hypopl... |
OMIM:617669 |
| Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Cholestasis, Decreased circulating T4 concentration, Thoracolumbar scoliosis, Hepatomegaly, Choan... |
OMIM:610199 |
| Osteogenesis Imperfecta, Type Viii |
|
Platyspondyly, Dentinogenesis imperfecta, Osteopenia, Kyphosis, Recurrent fractures, Barrel-shape... |
OMIM:610915 |
| Hermansky-Pudlak Syndrome 3 |
|
Gingival bleeding, Hypopigmentation of the skin, Spontaneous, recurrent epistaxis, Abnormal numbe... |
OMIM:614072 |
| Piebaldism |
|
Wide nasal bridge, Abnormal calvaria morphology, Hypopigmented skin patches, Long philtrum, White... |
ORPHA:2884 |
| Becker Nevus Syndrome |
|
Micromelia, Hypermelanotic macule, Supernumerary nipple, Abnormal scrotum morphology, Pectus exca... |
ORPHA:64755 |
| Distal Deletion 3P |
|
Downturned corners of mouth, Long philtrum, Umbilical hernia, Sacral dimple, Anteverted nares, Mi... |
ORPHA:1620 |
| Microcephalic osteodysplastic primordial dwarfism, type III |
|
Delayed cranial suture closure, Thick upper lip vermilion, Dislocation of the femoral head, Micro... |
OMIM:210730 |
| Brittle Cornea Syndrome |
|
Abnormality of the dentition, Increased susceptibility to fractures, Abnormality of hair pigmenta... |
ORPHA:90354 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Mandibular prognathia, Hirsutism, Scoliosis, Kyphosis, Synophrys |
OMIM:300861 |
| Glycogen Storage Disease Ib |
|
Elevated circulating hepatic transaminase concentration, Gout, Splenomegaly, Oral ulcer, Pancreat... |
OMIM:232220 |
| Woolly Hair Nevus |
|
Precocious puberty, Congenital posterior occipital alopecia, Fine hair, Woolly scalp hair, Hetero... |
ORPHA:79414 |
| Perlman Syndrome |
|
Wide nasal bridge, Depressed nasal bridge, Everted upper lip vermilion, Large for gestational age... |
OMIM:267000 |
| Albinism, Oculocutaneous, Type Iv |
|
Albinism, Hypopigmentation of hair, Blue irides |
OMIM:606574 |
| Myelofibrosis |
|
Hemophagocytosis, Extramedullary hematopoiesis, Splenomegaly, Hepatomegaly, Myelofibrosis, Myelop... |
OMIM:254450 |
| Heart Defects-Limb Shortening Syndrome |
|
Kyphosis, Mesomelic/rhizomelic limb shortening, Abnormal form of the vertebral bodies, Abnormalit... |
ORPHA:1354 |
| Peters Plus Syndrome |
|
Aplasia/Hypoplasia of the corpus callosum, Micrognathia, Cryptorchidism, Short neck, Hypoplasia o... |
ORPHA:709 |
| Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Leukoencephalopathy, Cerebellar vermis hypoplasia, Cerebral cortical atrophy, Small for gestation... |
OMIM:620024 |
| Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Premature adrenarche, Micrognathia, Narrow mouth, Cryptorchidism, Hypospadias, Narrow joint space... |
ORPHA:96182 |
| Peroxisome Biogenesis Disorder 13A (Zellweger) |
|
Wide nasal bridge, Intrahepatic cholestasis, Depressed nasal bridge, Polymicrogyria, Elevated cir... |
OMIM:614887 |
| Insulin-Resistance Syndrome Type B |
|
Insulin-resistant diabetes mellitus, Hyperinsulinemia, Type II diabetes mellitus, Polycystic ovar... |
ORPHA:2298 |
| Cleft Palate-Congenital Heart Defect-Intellectual Disability Syndrome Due To 15Q14 Microdeletion |
|
Abnormality of the dentition, Long philtrum, Prominent nasal bridge, Microcephaly, Smooth philtru... |
ORPHA:261190 |
| Obesity And Hypopigmentation |
|
Red hair, Hyperinsulinemia, Obesity, Hepatic steatosis |
OMIM:620195 |
| Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased circulating cortisol level, Increased urinary cortisol level, Decreased circulating ACT... |
OMIM:615954 |
| Stüve-Wiedemann Syndrome |
|
Abnormality of the dentition, Osteopenia, Limitation of joint mobility, Smooth tongue, Micromelia... |
ORPHA:3206 |
| Lysinuric Protein Intolerance |
|
Osteopenia, Hepatic failure, Elevated circulating hepatic transaminase concentration, Intraalveol... |
ORPHA:470 |
| Lopes-Maciel-Rodan Syndrome |
|
Small hand, Cerebral atrophy, Ankle clonus, Caudate atrophy, Short foot, Scoliosis, Kyphosis |
OMIM:617435 |
| Alveolar Echinococcosis |
|
Abnormal vertebral morphology, Pulmonary cyst, Biliary cirrhosis, Decreased liver function, Abnor... |
ORPHA:284 |
| Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development |
|
High, narrow palate, Obesity, Premature ovarian insufficiency, Scoliosis, Kyphosis |
OMIM:618124 |
| Oculopharyngodistal Myopathy |
|
High, narrow palate, Recurrent aspiration pneumonia, Weight loss, High palate |
ORPHA:98897 |
| Huntington Disease |
|
Degeneration of the striatum, Decreased body mass index, Cerebral atrophy, Abnormality of the sen... |
ORPHA:399 |
| Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Anteverted nares, Amelia, Decreased skull ossification, Testicular atrophy, Pulmonary hypoplasia |
OMIM:601163 |
| Bardet-Biedl Syndrome 1 |
|
High, narrow palate, Hepatic fibrosis, Dental crowding, Abnormality of the ovary, Decreased testi... |
OMIM:209900 |
| Loeys-Dietz Syndrome 5 |
|
Bifid uvula, Flexion contracture of toe, Retrognathia, Failure to thrive in infancy, Cleft soft p... |
OMIM:615582 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Cerebral cortical atrophy, Ankle flexion contracture, Small for gestational age, Scoliosis, Failu... |
ORPHA:464311 |
| Mesomelic Dysplasia, Nievergelt Type |
|
Aplasia/Hypoplasia of the radius, Limitation of joint mobility, Elbow dislocation, Micromelia, Ca... |
ORPHA:2633 |
| Ovarian Dysgenesis 9 |
|
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Hypoplasia of the ovar... |
OMIM:619665 |
| Adenylosuccinase Deficiency |
|
Long philtrum, Cerebral atrophy, Anteverted nares, Thin upper lip vermilion, Microcephaly, Smooth... |
OMIM:103050 |
| Congenital Erythropoietic Porphyria |
|
Osteopenia, Facial hypertrichosis, Hypopigmentation of the skin, Erythrodontia, Leukopenia, Eryth... |
ORPHA:79277 |
| Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Premature osteoarthritis, In... |
ORPHA:93314 |
| Intellectual Developmental Disorder, Autosomal Dominant 57 |
|
Broad nasal tip, Failure to thrive, Hypertrichosis, Prominent nasal bridge, Narrow mouth, Joint h... |
OMIM:618050 |
| Mowat-Wilson Syndrome |
|
Tooth malposition, Supernumerary nipple, Cryptorchidism, Hypoplasia of the corpus callosum, Agene... |
OMIM:235730 |
| Faundes-Banka Syndrome |
|
Lumbar hemivertebrae, Sparse scalp hair, Plagiocephaly, Failure to thrive, Underdeveloped nasal a... |
OMIM:619376 |
| Cree Impaired Intellectual Development Syndrome |
|
Bifid scrotum, Micrognathia, Cleft soft palate, Cryptorchidism, Large fontanelles, Brachycephaly,... |
OMIM:606851 |
| Chediak-Higashi Syndrome |
|
Periodontitis, Hemophagocytosis, Abnormal dense granules, Neutropenia, Hepatomegaly, Giant melano... |
OMIM:214500 |
| Curry-Jones Syndrome |
|
Generalized hirsutism, Craniosynostosis, Hypopigmented skin patches, Agenesis of corpus callosum |
ORPHA:1553 |
| Mast Cell Sarcoma |
|
Mastocytosis, Splenomegaly, Weight loss, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy |
ORPHA:66661 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Ankyloglossia, Genu valgum, Large fontanelles, Hepatic steatosis, Decreased body weight, Jaundice... |
OMIM:619475 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Lateral ventricle dilatation, Absent gallbladder, Hypoplasia of the corpus callosum, Cerebellar h... |
ORPHA:500150 |
| Restrictive Dermopathy |
|
Natal tooth, Micrognathia, Narrow mouth, Large placenta, Decreased skull ossification, Thoracic k... |
ORPHA:1662 |
| Metaphyseal Chondrodysplasia, Jansen Type |
|
Tooth malposition, Choanal atresia, Osteopenia, Pathologic fracture, Micrognathia, Hip contractur... |
OMIM:156400 |
| Autosomal Dominant Progressive External Ophthalmoplegia |
|
Elevated circulating hepatic transaminase concentration, Failure to thrive, Goiter, Abnormality o... |
ORPHA:254892 |
| Microphthalmia, Lenz Type |
|
Abnormality of the dentition, Delayed eruption of teeth, Aplasia/Hypoplasia of the corpus callosu... |
ORPHA:568 |
| Thakker-Donnai Syndrome |
|
Downturned corners of mouth, Bulbous nose, Anteverted nares, Narrow mouth, Agenesis of corpus cal... |
ORPHA:1780 |
| Liver Disease, Severe Congenital |
|
Dry hair, Portal inflammation, Macrocephaly at birth, Micrognathia, Hepatic steatosis, Pulmonary ... |
OMIM:619991 |
| Primary Biliary Cholangitis |
|
Hepatic fibrosis, Hepatic failure, Biliary cirrhosis, Hepatitis, Abnormality of the thyroid gland... |
ORPHA:186 |
| 3Mc Syndrome 1 |
|
Lambdoidal craniosynostosis, Wide anterior fontanel, Coronal craniosynostosis, Cleft lip, Dental ... |
OMIM:257920 |
| Osteogenesis Imperfecta, Type Xvii |
|
Platyspondyly, Dentinogenesis imperfecta, Recurrent fractures, Kyphoscoliosis, Joint hypermobilit... |
OMIM:616507 |
| Thrombocytopenia, Anemia, And Myelofibrosis |
|
Splenomegaly, Thrombocytopenia, Anisopoikilocytosis, Anemia, Myelofibrosis |
OMIM:617441 |
| Hypergonadotropic Hypogonadism And Partial Alopecia |
|
Alopecia, Streak ovary, Hypergonadotropic hypogonadism |
OMIM:241090 |
| Norrie Disease |
|
Cerebral cortical atrophy, Uterine rupture, Failure to thrive, Narrow nasal bridge, Malar flatten... |
ORPHA:649 |
| Cerebellar Ataxia-Hypogonadism Syndrome |
|
Supernumerary nipple, Hypogonadism, Decreased fertility, Abnormality of retinal pigmentation, Hyp... |
ORPHA:1173 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Highly arched eyebrow, Plagiocephaly, Diastema, Carpal synostosis, Microdontia, Radioulnar synost... |
OMIM:605282 |
| Ovarian Dysgenesis 10 |
|
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Streak ovary, Hypoplas... |
OMIM:619834 |
| Hydrolethalus Syndrome 1 |
|
Accessory spleen, Hypospadias, Abnormal cortical gyration, Abnormal vagina morphology, Abnormal l... |
OMIM:236680 |
| Pancreatic Agenesis-Holoprosencephaly Syndrome |
|
Abnormal external nose morphology, Neonatal insulin-dependent diabetes mellitus, Hypoplasia of th... |
ORPHA:556955 |
| Alstrom Syndrome |
|
Insulin-resistant diabetes mellitus, Hyperinsulinemia, Hepatic steatosis, Hepatomegaly, Elevated ... |
OMIM:203800 |
| Weill-Marchesani Syndrome 1 |
|
Tooth malposition, Hypoplasia of the maxilla, Depressed nasal bridge, Spinal canal stenosis, Abno... |
OMIM:277600 |
| Arthrogryposis, Distal, Type 5 |
|
Abnormality of retinal pigmentation, Limited wrist extension, Distal arthrogryposis, Recurrent pa... |
OMIM:108145 |
| Hepatoerythropoietic Porphyria |
|
Osteopenia, Facial hypertrichosis, Hypopigmentation of the skin, Erythrodontia, Erythroid hyperpl... |
ORPHA:95159 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Hepatic fibrosis, Failure to thrive, Secondary microcephaly, Exocrine pancreatic insufficiency, H... |
OMIM:616263 |
| Idiopathic Juvenile Osteoporosis |
|
Osteoporosis, Vertebral compression fracture, Recurrent fractures, Kyphosis |
ORPHA:85193 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2 |
|
Congenital hip dislocation, Spinal dysraphism, Kyphosis, Laryngotracheomalacia, Genu valgum, Larg... |
OMIM:603546 |
| Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Limitation of joint mobility, Slender build, Thick corpus callosum, High palate, Megalencephaly, ... |
ORPHA:457359 |
| Keratoderma Hereditarium Mutilans |
|
Abnormal spinal cord morphology |
ORPHA:494 |
| Pontocerebellar Hypoplasia, Type 17 |
|
Cerebellar vermis hypoplasia, Microretrognathia, Kyphosis, Hypoplasia of the pons, Hypoplasia of ... |
OMIM:619909 |
| Kallmann Syndrome With Spastic Paraplegia |
|
Anosmia, Sparse pubic hair, Hypothalamic gonadotropin-releasing hormone deficiency, Eunuchoid hab... |
OMIM:308750 |
| Singleton-Merten Syndrome 1 |
|
Carious teeth, Shallow acetabular fossae, Genu valgum, Decreased body weight, Hip dislocation, Sh... |
OMIM:182250 |
| Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Decreased serum estradiol, Anosmia, Decreased serum testosterone concentration, Hypothalamic gona... |
OMIM:618841 |
| Weill-Marchesani Syndrome 2 |
|
Tooth malposition, Hypoplasia of the maxilla, Narrow palate, Depressed nasal bridge, Flexion cont... |
OMIM:608328 |
| Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Highly arched eyebrow, Supernumerary nipple, Delayed cranial suture closure, Obesity, Cryptorchid... |
OMIM:618653 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Congenital contracture, Cleft upper lip, Hypoplasia of the brainstem, Type II lissencephaly, Ence... |
OMIM:613150 |
| Duane Retraction Syndrome |
|
Wide nasal bridge, Plagiocephaly, Irregular hyperpigmentation, Abnormal form of the vertebral bod... |
ORPHA:233 |
| Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Recurrent respiratory infections, Hypothyroidism, Posterior plagiocephaly, Thick vermilion border |
OMIM:619927 |
| Pyruvate Dehydrogenase E1-Beta Deficiency |
|
Agenesis of corpus callosum |
OMIM:614111 |
| Oculocutaneous Albinism, Type Viii |
|
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:619165 |
| Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Iris hypopigmentation, Cessation of head growth, Mandibular prognathia, Hypopigmentation of the s... |
ORPHA:98795 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Cervical myelopathy, Bifid uvula, Platyspondyly, Hypoplasia of the odontoid process, Kyphosis, At... |
OMIM:183900 |
| Van Der Woude Syndrome 2 |
|
Lip pit, Dental malocclusion, Cleft upper lip, Anodontia, Hypodontia, Cleft palate |
OMIM:606713 |
| Holoprosencephaly 13, X-Linked |
|
Thoracic hemivertebrae, Micrognathia, Median cleft palate, Butterfly vertebrae, Submucous cleft h... |
OMIM:301043 |
| Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Depressed nasal bridge, Recurrent pneumonia, Elbow flexion contracture, Obesity, Genu valgum, Hip... |
OMIM:618493 |
| Joubert Syndrome 30 |
|
Polymicrogyria, Dandy-Walker malformation, Agenesis of corpus callosum |
OMIM:617622 |
| Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Platyspondyly, Rhizomelia, Short 5th metacarpal, Short 4th metacarpal, Wormian bones, Thin bony c... |
OMIM:619638 |
| Cherubism |
|
Dental malocclusion, Multiple impacted teeth, Alveolar ridge overgrowth, Oligodontia, Jaw swellin... |
OMIM:118400 |
| Mend Syndrome |
|
Asymmetry of the mouth, Kyphosis, Failure to thrive, Sacral dimple, Micrognathia, Prominent nasal... |
ORPHA:401973 |
| Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Leukoencephalopathy, Slender build, Hypointensity of cerebral white matter on MRI, Cachexia, Weig... |
OMIM:603041 |
| Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Plagiocephaly, Kyphosis, Abnormal form of the vertebral bodies, Bilateral cryptorchidism, Hypogon... |
ORPHA:3042 |
| Brittle Cornea Syndrome 1 |
|
Dentinogenesis imperfecta, Congenital hip dislocation, Spondylolisthesis, Joint hypermobility, Ma... |
OMIM:229200 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Wide nasal bridge, Bifid uvula, Broad nasal tip, Plagiocephaly, Scoliosis, Narrow mouth, Exaggera... |
OMIM:619480 |
| Septooptic Dysplasia |
|
Short finger, Decreased response to growth hormone stimulation test, Absent septum pellucidum, Ag... |
OMIM:182230 |
| Spondyloperipheral Dysplasia |
|
Barrel-shaped chest, Short neck, Flat acetabular roof, Short distal phalanx of the 5th finger, Sh... |
OMIM:271700 |
| 17Q11 Microdeletion Syndrome |
|
Abnormality of the sphenoid sinus, Leukemia, Precocious puberty, Osteopenia, Glomus jugular tumor... |
ORPHA:97685 |
| Otopalatodigital Syndrome, Type Ii |
|
Rudimentary fibula, Micrognathia, Narrow mouth, Cryptorchidism, Short neck, Short hallux, Hypospa... |
OMIM:304120 |
| Adult-Onset Still Disease |
|
Bone marrow hypocellularity, Elevated circulating hepatic transaminase concentration, Hepatitis, ... |
ORPHA:829 |
| Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Microcephaly, Cachexia, Numerous pigmented freckles |
ORPHA:220295 |
| Thymic Neuroendocrine Tumor |
|
Osteopenia, Pituitary adenoma, Increased circulating cortisol level, Pituitary prolactin cell ade... |
ORPHA:97289 |
| Ayme-Gripp Syndrome |
|
Delayed cranial suture closure, Narrow mouth, Radioulnar synostosis, Short nose, Cerebral atrophy... |
OMIM:601088 |
| Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Abnormal vagina morphology, Abnormality of the uterus, Obesity, Streak ovary, Cryptorchidism, Gon... |
OMIM:194072 |
| Encephalocraniocutaneous Lipomatosis |
|
Cerebral cortical atrophy, Craniofacial hyperostosis, Alopecia, Cerebral atrophy, Cerebral calcif... |
ORPHA:2396 |
| Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Narrow palate, Plagiocephaly, Mandibular prognathia, Blue irides |
OMIM:615516 |
| Developmental And Epileptic Encephalopathy 110 |
|
Posterior plagiocephaly, Small hand, Tented upper lip vermilion, Hypoplasia of the corpus callosu... |
OMIM:620149 |
| Rhabdoid Tumor |
|
Neoplasm of the liver, Weight loss, Lymphadenopathy, Thrombocytopenia, Anemia |
ORPHA:69077 |
| Woodhouse-Sakati Syndrome |
|
Decreased serum estradiol, Osteopenia, Alopecia, Insulin-resistant diabetes mellitus, Hypogonadis... |
ORPHA:3464 |
| Weismann-Netter Syndrome |
|
Delayed eruption of permanent teeth, Horizontal sacrum, Calvarial hyperostosis, Scoliosis, Kyphosis |
OMIM:112350 |
| Pmm2-Cdg |
|
Increased circulating prolactin concentration, Aspiration pneumonia, Hyperinsulinemia, Aplasia of... |
ORPHA:79318 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Carious teeth, Cryptorchidism, Sparse eyelashes, Absence of Stensen duct, Abnormal nasopharynx mo... |
OMIM:129900 |
| Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
High, narrow palate, Retrognathia, Narrow nose, Scaphocephaly, Prominent nasal bridge, Melanocyti... |
OMIM:616914 |
| Cutis Laxa, Autosomal Recessive, Type Ic |
|
Accessory spleen, Wide nasal bridge, Peripheral pulmonary artery stenosis, Recurrent pneumonia, O... |
OMIM:613177 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Platyspondyly, Osteopenia, Pathologic fracture, Recurrent fractures, Increased susceptibility to ... |
OMIM:259770 |
| Alg1-Cdg |
|
Limitation of joint mobility, Decreased liver function, Cerebral atrophy, Progressive microcephal... |
ORPHA:79327 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Cleft upper lip, Hamartoma of tongue, Acetabular spurs, Agenesis of corpus callosum, Fibular hypo... |
OMIM:613091 |
| Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Hypoplasia of the odontoid process, Contracture of the proximal interphalangeal joint of the 2nd ... |
OMIM:609813 |
| Griscelli Syndrome Type 3 |
|
Partial albinism, Hypopigmentation of hair, Iris hypopigmentation |
ORPHA:79478 |
| X-Linked Intellectual Disability, Armfield Type |
|
Cerebral cortical atrophy, Mandibular prognathia, Depressed nasal bridge, Small hand, Downturned ... |
ORPHA:85276 |
| Juvenile Huntington Disease |
|
Neuronal loss in basal ganglia, Weight loss, Abnormal cerebral white matter morphology |
ORPHA:248111 |
| Oculogastrointestinal Muscular Dystrophy |
|
Cachexia |
ORPHA:1876 |
| Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Hypopigmentation of the skin, Splenomegaly, Osteopetrosis, Hepatomegaly, Hypopigmentation of hair... |
OMIM:618541 |
| Achondroplasia |
|
Depressed nasal bridge, Rhizomelia, Spinal stenosis with reduced interpedicular distance, Short f... |
OMIM:100800 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Abnormal spinal cord morphology |
ORPHA:99947 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Abnormality of the dentition, Short distal phalanx of finger, Alopecia, Limitation of joint mobil... |
ORPHA:90153 |
| Gaucher Disease, Type Iiic |
|
Hepatomegaly, Pancytopenia, Splenomegaly |
OMIM:231005 |
| Loeys-Dietz Syndrome 2 |
|
Bifid uvula, Pulmonary artery aneurysm, Spontaneous pneumothorax, Joint contracture of the hand, ... |
OMIM:610168 |
| Gracile Bone Dysplasia |
|
Failure to thrive, Ankyloglossia, Decreased skull ossification, Micropenis, Asplenia, Hypoplastic... |
OMIM:602361 |
| Glycerol Kinase Deficiency |
|
Downturned corners of mouth, Pathologic fracture, Adrenal insufficiency, Adrenocortical hypoplasi... |
OMIM:307030 |
| Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy |
|
Lateral ventricle dilatation, Long philtrum, Tented upper lip vermilion, Brachycephaly, Short cor... |
OMIM:619972 |
| Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Exaggerated median tongue furrow, Small nail, Cleft mandible, Micrognathia, Everted lower lip ver... |
OMIM:608670 |
| Fibrochondrogenesis |
|
Depressed nasal bridge, Hypoplastic scapulae, Plagiocephaly, Micromelia, Abnormal form of the ver... |
ORPHA:2021 |
| Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
High, narrow palate, Umbilical hernia, Joint hypermobility, Shoulder dislocation, Scoliosis, Fron... |
ORPHA:2181 |
| Brucellosis |
|
Sacroiliac arthritis, Hypersplenism, Knee osteoarthritis, Weight loss, Hepatomegaly, Epididymitis... |
ORPHA:1304 |
| Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Bulbous nose, Agenesis of corpus callosum, Microcephaly, Colpocephaly, Macrocephaly, Frontal boss... |
OMIM:615219 |
| Achondrogenesis, Type Ia |
|
Unossified vertebral bodies, Hypoplastic nasal bridge, Hypoplastic scapulae, Severe limb shorteni... |
OMIM:200600 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Wide nasal bridge, Cerebellar vermis hypoplasia, Highly arched eyebrow, Failure to thrive, Increa... |
OMIM:220111 |
| Tetrasomy 9P |
|
Hypoplastic scapulae, Small hand, Micrognathia, Absent gallbladder, Cryptorchidism, Large fontane... |
ORPHA:3310 |
| Microphthalmia, Syndromic 11 |
|
Agenesis of pineal gland, Cleft palate, Cleft upper lip, Agenesis of corpus callosum |
OMIM:614402 |
| Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Platyspondyly, Wormian bones, Limb undergrowth, Shortening of all metacarpals, Macrocephaly, Wide... |
OMIM:601356 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Polymicrogyria, Type II lissencephaly, Hypoplasia of the brainstem, Encephalocele, Agenesis of co... |
OMIM:253800 |
| Specc1L-Related Hypertelorism Syndrome |
|
Wide nasal bridge, Highly arched eyebrow, Short toe, Long philtrum, Umbilical hernia, Prominent n... |
ORPHA:1519 |
| Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Abnormality of the anterior commissure, Scoliosis, Hypoplasia of the pons, Agenesis of corpus cal... |
OMIM:617542 |
| Late-Onset Isolated Acth Deficiency |
|
Normocytic anemia, Type I diabetes mellitus, Pituitary adenoma, Hepatitis, Graves disease, Adreno... |
ORPHA:199299 |
| Typical Nemaline Myopathy |
|
Kyphosis, Arthrogryposis multiplex congenita, Flexion contracture, Genu valgum, Micrognathia, Sho... |
ORPHA:171436 |
| Familial Isolated Hyperparathyroidism |
|
Osteopenia, Chondrocalcinosis, Elevated circulating parathyroid hormone level, Parathyroid adenom... |
ORPHA:99879 |
| Pfeiffer Syndrome |
|
Choanal atresia, Hypoplasia of the maxilla, Depressed nasal bridge, Dental crowding, Coronal cran... |
OMIM:101600 |
| Hermansky-Pudlak Syndrome |
|
Menometrorrhagia, Epistaxis, Iris hypopigmentation, Hypopigmentation of the skin, Ocular albinism... |
ORPHA:79430 |
| Benign Recurrent Intrahepatic Cholestasis |
|
Cholestatic liver disease, Cholelithiasis, Elevated circulating hepatic transaminase concentratio... |
ORPHA:65682 |
| Cowden Syndrome |
|
Follicular thyroid carcinoma, Hypopigmented skin patches, Adenoma sebaceum, High palate, Abnormal... |
ORPHA:201 |
| Holoprosencephaly-Craniosynostosis Syndrome |
|
Short distal phalanx of finger, Plagiocephaly, Abnormality of retinal pigmentation, Hypoplastic v... |
ORPHA:2163 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Pneumonia, Abnormal oral mucosa morphology, Alopecia, Failure to thrive, Erosion of oral mucosa, ... |
ORPHA:79404 |
| Waardenburg Syndrome Type 2 |
|
Hypopigmented skin patches, Premature graying of hair, White forelock, Abnormality of the pulmona... |
ORPHA:895 |
| Myofibrillar Myopathy 10 |
|
Ankle flexion contracture, Elbow flexion contracture, Knee flexion contracture, Flexion contractu... |
OMIM:619040 |
| Bleeding Disorder, Platelet-Type, 17 |
|
Myelofibrosis, Epistaxis, Increased RBC distribution width, Absence of alpha granules, Thrombocyt... |
OMIM:187900 |
| Ulna Hypoplasia-Intellectual Disability Syndrome |
|
Micromelia, Elbow dislocation, Delayed cranial suture closure, Joint stiffness, Large fontanelles... |
ORPHA:2249 |
| Marbach-Schaaf Neurodevelopmental Syndrome |
|
Depressed nasal bridge, Broad nasal tip, Plagiocephaly, Downturned corners of mouth, Obesity, Sub... |
OMIM:619680 |
| Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Delayed cranial suture closure, Narrow mouth, Cryptorchidism, Large fontanelles, High palate, Sho... |
OMIM:601776 |
| Acute Monoblastic/Monocytic Leukemia |
|
Hypochromic anemia, Central hypothyroidism, Acute monocytic leukemia, Ankle swelling, Cervical ly... |
ORPHA:514 |
| Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Hip osteoarthritis, Ankle swelling, Abnormality of the temporomandibular joint, Hepatosplenomegal... |
ORPHA:85408 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Retrognathia, Polymicrogyria, Type II lissencephaly, Hypoplasia of the brainstem, Encephalocele, ... |
OMIM:614643 |
| Hyperparathyroidism-Jaw Tumor Syndrome |
|
Chondrocalcinosis, Elevated circulating parathyroid hormone level, Pancreatic adenocarcinoma, Abn... |
ORPHA:99880 |
| Acrofacial Dysostosis, Cincinnati Type |
|
Median pseudocleft lip, Micrognathia, Cryptorchidism, Decreased body weight, High palate, Patent ... |
OMIM:616462 |
| Huntington Disease-Like 2 |
|
Cerebral cortical atrophy, Weight loss |
OMIM:606438 |
| Peripheral Primitive Neuroectodermal Tumor |
|
Precocious puberty, Neoplasm of the scrotum, Uterine neoplasm, Abnormal thoracic spine morphology... |
ORPHA:370348 |
| Cleft Palate, Proliferative Retinopathy, And Developmental Delay |
|
Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, Micrognathia, Cavum septum... |
OMIM:619074 |
| Pseudoachondroplasia |
|
Delayed epiphyseal ossification, Atlantoaxial dislocation, Hypoplasia of the odontoid process, Ge... |
OMIM:177170 |
| Poland Syndrome |
|
Acute leukemia, Small hand, Aplasia/Hypoplasia of the sternum, Cryptorchidism, Encephalocele, Low... |
ORPHA:2911 |
| Delpire-Mcneill Syndrome |
|
Cortical dysplasia, Hip dislocation, Agenesis of corpus callosum |
OMIM:619083 |
| X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Scoliosis, Kyphosis |
ORPHA:101075 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Decreased liver function, Abnormal lymph node morphology, Hypogonadism, Hepatosplenomegaly, Hepat... |
ORPHA:85450 |
| Chronic Beryllium Disease |
|
Mediastinal lymphadenopathy, Reticulonodular pattern on pulmonary HRCT, Lymphocytic interstitial ... |
ORPHA:133 |
| Viss Syndrome |
|
Recurrent joint dislocation, Cleft soft palate, Micrognathia, Genu valgum, Contracture of the pro... |
OMIM:619472 |
| Linear Nevus Sebaceus Syndrome |
|
Genu recurvatum, Alopecia, Plagiocephaly, Irregular hyperpigmentation, Aplasia/Hypoplasia of the ... |
ORPHA:2612 |
| Albinism, Oculocutaneous, Type Ii |
|
Hypopigmentation of the skin, Freckles in sun-exposed areas, Blue irides, Albinism, Red hair, Hyp... |
OMIM:203200 |
| Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Elbow dislocation, Genu valgum, Barrel-shaped chest, Intervertebral space narrowing, Narrow verte... |
OMIM:143095 |
| Six2-Related Frontonasal Dysplasia |
|
Depressed nasal bridge, Broad nasal tip, Absent/hypoplastic paranasal sinuses, Frontal bossing, P... |
ORPHA:488437 |
| Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Genu valgum, Thoracolumbar scoliosis, Ovoid vertebral bodies, Joint dislocation, Limited elbow ex... |
OMIM:618019 |
| Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Cerebral atrophy, Hypoplasia of the corpus callosum, Microcephaly, Hyperintensity of cerebral whi... |
ORPHA:500180 |
| Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Small scrotum, Posterior plagiocephaly, Recurrent bronchitis, Prominent nasal tip, Short neck, Hi... |
OMIM:620330 |
| Cerebrotendinous Xanthomatosis |
|
Cholelithiasis, Cerebral atrophy, Abnormal periventricular white matter morphology, Ankle clonus,... |
OMIM:213700 |
| Sarcoidosis |
|
Abnormal lymph node morphology, Abnormal pleura morphology, Abnormal reproductive system morpholo... |
ORPHA:797 |
| Huntington Disease-Like 1 |
|
Cerebral cortical atrophy, Abnormal basal ganglia morphology, Weight loss, Gliosis |
ORPHA:157941 |
| Meier-Gorlin Syndrome 5 |
|
Hypoplasia of the maxilla, Failure to thrive, Long philtrum, Elbow dislocation, Micrognathia, Cry... |
OMIM:613805 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Failure to thrive, Atelectasis, Respiratory tract infection, Elevated circulating alanine aminotr... |
ORPHA:365 |
| Dihydropyrimidinase Deficiency |
|
Plagiocephaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, ... |
OMIM:222748 |
| Neurooculorenal Syndrome |
|
Ectopic posterior pituitary, Cerebellar vermis hypoplasia, Highly arched eyebrow, Central hypothy... |
OMIM:620305 |
| Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Osteopenia, Cholelithiasis, Hepatic failure, Decreased liver function, Pathologic fracture, Hyper... |
ORPHA:77293 |
| Atelosteogenesis Type I |
|
Platyspondyly, Pulmonary hypoplasia, Rhizomelia, Joint dislocation, Short femur, Absent or minima... |
ORPHA:1190 |
| Woolly Hair |
|
Sparse lateral eyebrow, Fine hair, Sparse body hair, Slow-growing hair, Brittle hair, Abnormality... |
ORPHA:170 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Osteopenia, Recurrent upper respiratory tract infections, Type I diabetes mellitus, Hepatitis, Ly... |
ORPHA:391487 |
| Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Thyroid C cell hyperplasia, Hyperpigmented streaks, Failure to thrive, Lateral ventricle dilatati... |
OMIM:300952 |
| Weismann-Netter Syndrome |
|
Aplasia/Hypoplasia of the radius, Abnormal form of the vertebral bodies, Abnormality of the thyro... |
ORPHA:3344 |
| Myotonic Dystrophy 1 |
|
Cholelithiasis, Frontal balding, Cerebral atrophy, Hypogonadism, Testicular atrophy |
OMIM:160900 |
| Meckel Syndrome 14 |
|
Hepatic fibrosis, Microretrognathia, Occipital encephalocele, Retrognathia, Anteverted nares, Mic... |
OMIM:619879 |
| Premature Ovarian Failure 21 |
|
Decreased serum estradiol, Precocious puberty in females, Streak ovary, Elevated circulating foll... |
OMIM:620311 |
| Autism, Susceptibility To, X-Linked 2 |
|
Increased serum serotonin, Plagiocephaly |
OMIM:300495 |
| Cystinosis, Nephropathic |
|
Cerebral calcification, Genu valgum, Weight loss, Hepatomegaly, Male infertility, Male hypogonadi... |
OMIM:219800 |
| Autosomal Dominant Kenny-Caffey Syndrome |
|
Carious teeth, Delayed cranial suture closure, Postnatal macrocephaly, Basal ganglia calcificatio... |
ORPHA:93325 |
| Frasier Syndrome |
|
Decreased serum estradiol, Streak ovary, Ambiguous genitalia, male, Male pseudohermaphroditism, G... |
ORPHA:347 |
| Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Hypoplasia of the zygomatic bone, Long philtrum, Micromelia, Fine hair, Thick eyebrow, Brachyceph... |
OMIM:614800 |
| Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome |
|
Delayed cranial suture closure, Thin calvarium, Micrognathia, Frontal bossing, Short nose |
ORPHA:1129 |
| Acromegaly |
|
Pituitary prolactin cell adenoma, Dysmenorrhea, Generalized hirsutism, Abnormal toenail morpholog... |
ORPHA:963 |
| Achondrogenesis, Type Ii |
|
Microretrognathia, Long philtrum, Absent vertebral body mineralization, Barrel-shaped chest, Shor... |
OMIM:200610 |
| Atypical Rett Syndrome |
|
Small hand, Secondary microcephaly, Short foot, Scoliosis, Kyphosis |
ORPHA:3095 |
| Osteogenesis Imperfecta, Type Vii |
|
Dentinogenesis imperfecta, Rhizomelia, Osteopenia, Micromelia, Long philtrum, Absent pulmonary ar... |
OMIM:610682 |
| Acrorenal-Mandibular Syndrome |
|
Hypoplastic scapulae, Abnormal sacral segmentation, Rudimentary fibula, Micrognathia, High palate... |
OMIM:200980 |
| Robinow-Sorauf Syndrome |
|
Plagiocephaly, Narrow nose, Malar flattening, Long nose, Craniosynostosis, Pansynostosis |
OMIM:180750 |
| Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome |
|
Wide nasal bridge, Delayed eruption of permanent teeth, Congenital hypothyroidism, Tented upper l... |
ORPHA:521445 |
| Osteogenesis Imperfecta, Type Iv |
|
Dentinogenesis imperfecta, Otosclerosis, Recurrent fractures, Biconcave flattened vertebrae, Incr... |
OMIM:166220 |
| Somatomammotropinoma |
|
Increased circulating prolactin concentration, Pituitary prolactin cell adenoma, Dysmenorrhea, Ge... |
ORPHA:314769 |
| Chronic Hiccup |
|
Weight loss |
ORPHA:396 |
| Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Lip pit, Supernumerary nipple, Camptodactyly of finger, Frontal bossing, Abnormal palate morpholo... |
ORPHA:1236 |
| Floating-Harbor Syndrome |
|
Carious teeth, Cryptorchidism, Low posterior hairline, Short neck, Dislocated radial head, Hyposp... |
OMIM:136140 |
| Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Wide nasal bridge, Cranium bifidum occultum, Hypoplasia of the maxilla, Hypoplasia of the frontal... |
ORPHA:306542 |
| Mosaic Trisomy 16 |
|
Craniofacial asymmetry, Hypospadias, Small for gestational age, Short forearm, Abnormality of the... |
ORPHA:1708 |
| Cutis Laxa, Autosomal Dominant 3 |
|
Osteopenia, Delayed cranial suture closure, Os odontoideum, Joint hypermobility, Microcephaly, Wo... |
OMIM:616603 |
| Spinal Arteriovenous Metameric Syndrome |
|
Spinal arteriovenous malformation, Abnormal spinal cord morphology |
ORPHA:53721 |
| Isolated Succinate-Coq Reductase Deficiency |
|
Pigmentary retinopathy, Weight loss, Mild microcephaly, Knee flexion contracture |
ORPHA:3208 |
| Aicardi-Goutières Syndrome |
|
Degeneration of the striatum, Neonatal alloimmune thrombocytopenia, Plagiocephaly, Elevated circu... |
ORPHA:51 |
| Fetal Akinesia Deformation Sequence 1 |
|
Micrognathia, Narrow mouth, Cryptorchidism, Hip contracture, Short neck, Elbow ankylosis, High pa... |
OMIM:208150 |
| Beck-Fahrner Syndrome |
|
Long philtrum, Periventricular leukomalacia, Open mouth, Joint hypermobility, Microcephaly, Brach... |
OMIM:618798 |
| Craniosynostosis 4 |
|
Ectopic posterior pituitary, Depressed nasal bridge, Lambdoidal craniosynostosis, Coronal cranios... |
OMIM:600775 |
| Noonan Syndrome With Multiple Lentigines |
|
Wide nasal bridge, Multiple lentigines, Melanocytic nevus, Decreased fertility, Cryptorchidism, A... |
ORPHA:500 |
| Aica-Ribosiduria |
|
Clitoral hypertrophy, Thin upper lip vermilion, Brachycephaly, Fused labia minora, Wide mouth |
ORPHA:250977 |
| Congenital Myopathy 13 |
|
Downturned corners of mouth, Micrognathia, Cryptorchidism, Kyphoscoliosis, Microcephaly, Brachyce... |
OMIM:255995 |
| Abnormal Hair, Joint Laxity, And Developmental Delay |
|
Short fifth metatarsal, Increased carrying angle, Plagiocephaly, Alopecia, Sparse lateral eyebrow... |
OMIM:261990 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4 |
|
Broad nasal tip, Plagiocephaly, Downturned corners of mouth, Long philtrum, Anteverted nares, Mic... |
OMIM:618548 |
| Spastic Paraplegia 53, Autosomal Recessive |
|
Joint hypermobility, Kyphosis, Hypertrichosis |
OMIM:614898 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Polymicrogyria, Frontal bossing, Hypoplasia of the corpus callosum, Knee flexion contracture, Tho... |
OMIM:603387 |
| Hunter-Macdonald Syndrome |
|
Joint contracture of the hand, Umbilical hernia, Delayed cranial suture closure, Premature osteoa... |
OMIM:611962 |
| Elejalde Neuroectodermal Melanolysosomal Syndrome |
|
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... |
OMIM:256710 |
| Bruck Syndrome 2 |
|
Platyspondyly, Osteopenia, Pterygium, Elbow flexion contracture, Increased susceptibility to frac... |
OMIM:609220 |
| Sotos Syndrome |
|
Abnormal vertebral morphology, Small cell lung carcinoma, Small nail, Aplasia/Hypoplasia of the c... |
ORPHA:821 |
| Mend Syndrome |
|
Microretrognathia, Failure to thrive, Small anterior fontanelle, Bulbous nose, Sacral dimple, Mic... |
OMIM:300960 |
| Erdheim-Chester Disease |
|
Diabetes insipidus, Osteolysis, Osteomyelitis, Pleural effusion, Joint swelling, Hypogonadotropic... |
ORPHA:35687 |
| Cockayne Syndrome Type 3 |
|
Carious teeth, Elevated circulating hepatic transaminase concentration, Dry hair, Premature grayi... |
ORPHA:90324 |
| Giant Cell Arteritis |
|
Epistaxis, Hepatic failure, Alopecia, Abnormal pleura morphology, Joint stiffness, Weight loss, A... |
ORPHA:397 |
| Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Osteoporosis, Osteopenia, Increased susceptibility to fractures |
OMIM:612287 |
| White-Kernohan Syndrome |
|
Depressed nasal bridge, Horizontal eyebrow, Retrognathia, Underdeveloped nasal alae, Obesity, Ant... |
OMIM:619426 |
| Takayasu Arteritis |
|
Anemia, Weight loss, Arthritis |
ORPHA:3287 |
| Isaacs Syndrome |
|
Weight loss |
ORPHA:84142 |
| Holt-Oram Syndrome |
|
Aplasia/Hypoplasia of the radius, Absent thumb, Kyphosis, Joint stiffness, Radioulnar synostosis,... |
ORPHA:392 |
| X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Scoliosis, Kyphosis |
ORPHA:101078 |
| Abdominal Obesity-Metabolic Syndrome 3 |
|
Hyperglycemia, Type II diabetes mellitus, Coronary artery stenosis |
OMIM:615812 |
| Chromosome 15Q11.2 Deletion Syndrome |
|
Plagiocephaly, Short finger, Elbow contracture, Bulbous nose, Narrow nose, Micrognathia, Irregula... |
OMIM:615656 |
| Microphthalmia, Syndromic 6 |
|
Lambdoidal craniosynostosis, Small scrotum, Inferior cerebellar vermis hypoplasia, Aplasia/Hypopl... |
OMIM:607932 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Clitoral hypertrophy, Pigmentary retinopathy, Absent septum pellucidum, Agenesis of corpus callos... |
OMIM:309801 |
| Addison Disease |
|
Adrenal calcification, Weight loss, Hypoparathyroidism, Premature ovarian insufficiency, Thymoma,... |
ORPHA:85138 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Mesomelia, Cerebellar vermis hypoplasia, Hepatic fibrosis, Microglossia, Platyspondyly, Lateral v... |
OMIM:263520 |
| Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Osteoporosis, Osteopenia, Increased susceptibility to fractures |
OMIM:612286 |
| Idiopathic Chronic Eosinophilic Pneumonia |
|
Atelectasis, Hypereosinophilia, Pleural effusion, Leukocytosis, Weight loss, Hypersensitivity pne... |
ORPHA:2902 |
| Joubert Syndrome 1 |
|
Cerebellar vermis hypoplasia, Hepatic fibrosis, Plagiocephaly, Highly arched eyebrow, Hypoplasia ... |
OMIM:213300 |
| Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Cerebral cortical atrophy, Mandibular prognathia, Sparse eyebrow, Frontal bossing, Large for gest... |
OMIM:617011 |
| Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Hypoplasia of the odontoid process, Micrognathia, Short neck, High palate, Short metacarpal, Shor... |
OMIM:271665 |
| Pyruvate Carboxylase Deficiency |
|
Failure to thrive, Increased caudate lactate level, Periventricular cysts, Agenesis of corpus cal... |
ORPHA:3008 |
| Hyperzincemia With Functional Zinc Depletion |
|
Hepatomegaly, Osteoporosis |
OMIM:601979 |
| Johanson-Blizzard Syndrome |
|
Clitoral hypertrophy, Midline skin dimples over anterior/posterior fontanelles, Frontal upsweep o... |
OMIM:243800 |
| Myopathy, Centronuclear, 2 |
|
Hyperlordosis, High palate, Scoliosis, Kyphosis, Flexion contracture |
OMIM:255200 |
| X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Kyphosis, Elbow flexion contracture, Obesity, Joint stiffness, Decreased cervical spine flexion d... |
ORPHA:98863 |
| Congenital Tricuspid Valve Dysplasia |
|
Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cardiomegaly, Tricuspid valve ... |
ORPHA:555874 |
| Familial Glucocorticoid Deficiency |
|
Precocious puberty, Leydig cell neoplasia, Abnormal circulating adrenocorticotropin concentration... |
ORPHA:361 |
| Eosinophilic Fasciitis |
|
Eosinophilia, Abnormal eosinophil morphology, Weight loss, Arthritis |
ORPHA:3165 |
| Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Kyphosis, Elbow flexion contracture, Obesity, Joint stiffness, Decreased cervical spine flexion d... |
ORPHA:98855 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Osteopenia, Carious teeth, Foot joint contracture, Ankyloglossia, Erosion of oral mucosa, Narrow ... |
ORPHA:79408 |
| Graves Disease |
|
Graves disease, Goiter, Increased circulating free T3, Onycholysis, Weight loss, Increased circul... |
OMIM:275000 |
| Pancreatic Triacylglycerol Lipase Deficiency |
|
Rickets, Osteomalacia, Exocrine pancreatic insufficiency, Iron deficiency anemia, Weight loss, Os... |
ORPHA:309031 |
| Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Wide nasal bridge, Hypopigmented skin patches, Underdeveloped nasal alae, Premature graying of ha... |
ORPHA:163746 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Nasal polyposis, Hypopigmented skin patches, Abnormal pleura morphology, Eosinophilia, Weight los... |
ORPHA:183 |
| Glycogen Storage Disease Ia |
|
Elevated circulating hepatic transaminase concentration, Gout, Delayed puberty, Pancreatitis, Hep... |
OMIM:232200 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
High, narrow palate, Cerebellar vermis hypoplasia, Hepatic failure, Polymicrogyria, Intracerebral... |
ORPHA:228308 |
| Stormorken Syndrome |
|
Howell-Jolly bodies, Epistaxis, Prominent nose, Thrombocytopenia, Anemia, Asplenia, Short philtru... |
OMIM:185070 |
| Pfeiffer Syndrome Type 1 |
|
Depressed nasal bridge, Bicoronal synostosis, Aplasia/Hypoplasia of the thumb, Brachycephaly, Sho... |
ORPHA:93258 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Malformation of the hepatic ductal plate, Hepatic fibrosis, Biliary cirrhosis, Polysplenia, Chole... |
OMIM:208540 |
| Histiocytoid Cardiomyopathy |
|
Failure to thrive, Polycystic ovaries, Pulmonary edema, Agenesis of corpus callosum, Hepatomegaly... |
ORPHA:137675 |
| Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
High, narrow palate, Hypoplasia of the maxilla, Plagiocephaly, Long philtrum, Umbilical hernia, C... |
ORPHA:1101 |
| Frontonasal Dysplasia 3 |
|
Wide nasal bridge, Underdeveloped nasal alae, Sparse eyelashes, Brachycephaly, Absent eyebrow, Cl... |
OMIM:613456 |
| Piebald Trait-Neurologic Defects Syndrome |
|
Irregular hyperpigmentation, Hypopigmented skin patches, Abnormal eyebrow morphology, Heterochrom... |
ORPHA:2885 |
| Isolated Exencephaly |
|
Depressed nasal bridge, Hypoplasia of the frontal bone, Abnormal facial skeleton morphology, Abno... |
ORPHA:563612 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Cleft lip, Pulmonary artery dilatation, Retrognathia, Annular pancreas, Abnormal lung lobation, A... |
OMIM:265380 |
| Immunodeficiency 31C |
|
Osteopenia, Lymphopenia, Osteomyelitis, Splenomegaly, Autoimmune hemolytic anemia, Hypothyroidism... |
OMIM:614162 |
| Common Variable Immunodeficiency |
|
Pneumonia, Elevated circulating hepatic transaminase concentration, Emphysema, Lymphopenia, Abnor... |
ORPHA:1572 |
| Mucolipidosis Iii Alpha/Beta |
|
Shallow acetabular fossae, Limitation of joint mobility, Irregular carpal bones, Spondylolisthesi... |
OMIM:252600 |
| Neurofaciodigitorenal Syndrome |
|
Abnormal oral mucosa morphology, Hypoplasia of the premaxilla, Plagiocephaly, Prominent nasal bri... |
ORPHA:2673 |
| Triosephosphate Isomerase Deficiency |
|
Normocytic anemia, Cholelithiasis, Kyphosis, Failure to thrive, Cerebral atrophy, Splenomegaly, M... |
OMIM:615512 |
| Generalized Pseudohypoaldosteronism Type 1 |
|
Cholelithiasis, Recurrent tonsillitis, Abnormal circulating aldosterone, Failure to thrive in inf... |
ORPHA:171876 |
| Caroli Disease |
|
Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Cholestasis, Leuko... |
ORPHA:53035 |
| Mosaic Trisomy 20 |
|
Craniofacial asymmetry, Cleft lip, Retrognathia, Spinal canal stenosis, Micrognathia, Cryptorchid... |
ORPHA:1724 |
| Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Plagiocephaly, Brachycephaly, Pectus excavatum, Sparse hair, Scoliosis |
OMIM:619910 |
| Branchiooculofacial Syndrome |
|
Supernumerary nipple, Premature graying of hair, Ectopic thymus tissue, Micrognathia, White forel... |
OMIM:113620 |
| Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features |
|
Trichiasis, Sparse eyebrow, Thin eyebrow, Micrognathia, Prominent nasal bridge, Malar flattening,... |
OMIM:609944 |
| Wolfram Syndrome 1 |
|
Pigmentary retinopathy, Cerebral atrophy, Sideroblastic anemia, Hypothyroidism, Megaloblastic ane... |
OMIM:222300 |
| Acrocephalopolydactylous Dysplasia |
|
Hepatic fibrosis, Micromelia, Polysplenia, Oxycephaly, Short neck, Pancreatic fibrosis, Hepatomeg... |
OMIM:200995 |
| Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies |
|
Craniosynostosis, Brachycephaly, Occipital encephalocele, Humeroradial synostosis |
OMIM:614416 |
| Okamoto Syndrome |
|
Facial hypertrichosis, Exaggerated median tongue furrow, Open bite, Extension of hair growth on t... |
ORPHA:2729 |
| Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Elevated circulating hepatic transaminase concentration, Hepatitis, Acute hepatic failure, Inters... |
ORPHA:139402 |
| Emery-Dreifuss Muscular Dystrophy |
|
Kyphosis, Elbow flexion contracture, Obesity, Joint stiffness, Decreased cervical spine flexion d... |
ORPHA:261 |
| Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Kyphosis, Elbow flexion contracture, Obesity, Joint stiffness, Decreased cervical spine flexion d... |
ORPHA:98853 |
| Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities |
|
Brachycephaly, Synophrys, Wide mouth, Supernumerary nipple |
OMIM:616083 |
| Mycophenolate Mofetil Embryopathy |
|
Bifid thoracic vertebrae, Tracheomalacia, Micrognathia, Hypoplastic toenails, Agenesis of corpus ... |
ORPHA:268249 |
| Galloway-Mowat Syndrome 4 |
|
Plagiocephaly, Cerebral atrophy, Polymicrogyria, Cerebellar hypoplasia, Primary microcephaly, Hyp... |
OMIM:617730 |
| Developmental And Epileptic Encephalopathy 84 |
|
Plagiocephaly, Thick lower lip vermilion, Microcephaly, Smooth philtrum, Synophrys |
OMIM:618792 |
| Familial Pancreatic Carcinoma |
|
Peritoneal abscess, Elevated circulating hepatic transaminase concentration, Pancreatic adenocarc... |
ORPHA:1333 |
| Spermatogenic Failure, X-Linked, 2 |
|
Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility |
OMIM:309120 |
| Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Cachexia, Short palm |
ORPHA:3217 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Elbow flexion contracture, Abnormal cerebral white matter morphology, Kyphosis |
OMIM:618138 |
| Anaplastic Thyroid Carcinoma |
|
Goiter, Weight loss, Lymphadenopathy, Nodular goiter, Anaplastic thyroid carcinoma, Neoplasm of t... |
ORPHA:142 |
| Grant Syndrome |
|
Wormian bones, Micrognathia |
OMIM:138930 |
| Chromosome 14Q32 Duplication Syndrome, 700-Kb |
|
Chronic myelomonocytic leukemia, Myelofibrosis, Acute myeloid leukemia |
OMIM:616604 |
| Classic Phenylketonuria |
|
Microcephaly, Cerebral calcification, Hypopigmentation of the skin, Hypopigmentation of hair |
ORPHA:79254 |
| Osteootohepatoenteric Syndrome |
|
Hepatic fibrosis, Portal fibrosis, Failure to thrive, Cholestasis, Microvesicular hepatic steatos... |
OMIM:619377 |
| Hypogonadism, Male |
|
Micropenis, Male hypogonadism, Hypospadias, Testicular atrophy |
OMIM:241100 |
| Solitary Bone Cyst |
|
Abnormal spinal cord morphology |
ORPHA:83468 |
| Acrofrontofacionasal Dysostosis 1 |
|
Wide nasal bridge, Short distal phalanx of finger, Mandibular prognathia, Small nail, Cleft upper... |
OMIM:201180 |
| Right Atrial Isomerism |
|
Total anomalous pulmonary venous return, Polysplenia, Abnormal lung lobation, Abdominal situs amb... |
OMIM:208530 |
| Q Fever |
|
Pneumonia, Elevated circulating hepatic transaminase concentration, Hepatitis, Osteomyelitis, Hep... |
ORPHA:781 |
| Carnitine Palmitoyltransferase Ii Deficiency |
|
Cerebellar vermis hypoplasia, Hepatic failure, Polymicrogyria, Cerebral calcification, Abnormal b... |
ORPHA:157 |
| Distal 16P11.2 Microdeletion Syndrome |
|
Obesity, Prominent nasal bridge, Narrow mouth, Low anterior hairline, Kyphosis |
ORPHA:261222 |
| Diffuse Alveolar Hemorrhage |
|
Leukocytosis, Weight loss, Irregular septal thickening on pulmonary HRCT, Thrombocytopenia, Anemi... |
ORPHA:90060 |
| Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Decreased response to growth hormone stimulation test, Cholestasis, Adrenal insufficiency, Obesit... |
OMIM:609734 |
| Attrv30M Amyloidosis |
|
Weight loss, Impotence |
ORPHA:85447 |
| Medullary Thyroid Carcinoma |
|
Elevated circulating calcitonin concentration, Pheochromocytoma, Medullary thyroid carcinoma, Abn... |
ORPHA:1332 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Leukoencephalopathy, Elevated circulating hepatic transaminase concentration, Leukopenia, Leukocy... |
ORPHA:20 |
| Chiari Malformation Type Ii |
|
Myelomeningocele, Cervical myelopathy, Spina bifida, Agenesis of corpus callosum |
OMIM:207950 |
| Matthew-Wood Syndrome |
|
Annular pancreas, Failure to thrive, Abnormality of the uterus, Cryptorchidism, Abnormal spleen m... |
ORPHA:2470 |
| Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Alopecia, Hypopigmentation of hair |
ORPHA:1067 |
| Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Pigmentary retinopathy, Eye of the tiger anomaly of globus pallidus, Aspiration pneumonia, Increa... |
ORPHA:216866 |
| Pseudomyxoma Peritonei |
|
Weight loss, Lymphadenopathy, Abnormal peritoneum morphology |
ORPHA:26790 |
| Lymphoid Interstitial Pneumonia |
|
Rheumatoid arthritis, Failure to thrive, Subpleural interstitial thickening, Respiratory tract in... |
ORPHA:79128 |
| Hydrocephalus, Congenital, X-Linked |
|
Macrocephaly, Corticospinal tract hypoplasia, Absent septum pellucidum, Agenesis of corpus callosum |
OMIM:307000 |
| Congenital Fiber-Type Disproportion Myopathy |
|
Ankle flexion contracture, Congenital hip dislocation, Dental crowding, Failure to thrive, Aspira... |
ORPHA:2020 |
| Toxic Epidermal Necrolysis |
|
Elevated circulating hepatic transaminase concentration, Abnormal vagina morphology, Acute hepati... |
ORPHA:537 |
| Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Emphysema, Respiratory tract infection, Chronic bronchitis, Weight loss, Honeycomb lung, Hypersen... |
ORPHA:79127 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Reduced natural killer cell count, Hypoplasia of the thymus, Impaired lymphocyte transformation w... |
OMIM:619313 |
| Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Scoliosis, Kyphosis |
OMIM:610743 |
| Primary Hepatic Neuroendocrine Carcinoma |
|
Increased serum serotonin, Elevated circulating hepatic transaminase concentration, Neuroendocrin... |
ORPHA:100085 |
| Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus |
|
Partial agenesis of the corpus callosum, Thin corpus callosum |
OMIM:619653 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Premature adrenarche, Clitoral hypertrophy, Frontal balding, Decreased fertility, Weight loss, Ab... |
ORPHA:90794 |
| Spinocerebellar Ataxia 32 |
|
Testicular atrophy, Infertility, Azoospermia |
OMIM:613909 |
| Blomstrand Lethal Chondrodysplasia |
|
Synostosis of joints, Depressed nasal bridge, Mesomelia, Rhizomelia, Natal tooth, Aplastic clavic... |
ORPHA:50945 |
| Spinocerebellar Ataxia Type 32 |
|
Testicular atrophy, Azoospermia, Male infertility |
ORPHA:276183 |
| Al Amyloidosis |
|
Macroglossia, Howell-Jolly bodies, Abnormality of the liver, Hepatomegaly, Weight loss, Anemia, A... |
ORPHA:85443 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Delayed eruption of teeth, Premature loss of primary teeth, Splenomegaly, Chronic rhinitis, Pulmo... |
ORPHA:667 |
| Bronchial Neuroendocrine Tumor |
|
Pneumonia, Increased serum serotonin, Hepatic failure, Increased circulating cortisol level, Incr... |
ORPHA:97287 |
| Holoprosencephaly 2 |
|
Bifid uvula, Anterior pituitary agenesis, Proboscis, Median cleft palate, Malar flattening, Submu... |
OMIM:157170 |
| Orofaciodigital Syndrome Iii |
|
Bifid uvula, Kyphosis, Bulbous nose, Microdontia, Short sternum, Hyperconvex nail, Bifid tongue, ... |
OMIM:258850 |
| Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Platyspondyly, Hip osteoarthritis, Hump-shaped mound of bone in central and posterior portions of... |
OMIM:313400 |
| Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Pleural effusion, Pneumothorax, Weight loss, Lymphadenopathy, Bronchiectasis |
ORPHA:411703 |
| Adrenocortical Carcinoma |
|
Increased circulating cortisol level, Hypertrichosis, Increased urinary cortisol level, Hyperaldo... |
ORPHA:1501 |
| Wild Type Attr Amyloidosis |
|
Pleural effusion, Pulmonary edema, Weight loss, Hepatomegaly, Abnormal pulmonary interstitial mor... |
ORPHA:330001 |
| Intellectual Disability-Developmental Delay-Contractures Syndrome |
|
Congenital foot contractures, Limitation of joint mobility, Scoliosis, Kyphosis |
ORPHA:3454 |
| Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
High, narrow palate, Iris hypopigmentation, Delayed eruption of teeth, Hypopigmented skin patches... |
ORPHA:3214 |
| Holocarboxylase Synthetase Deficiency |
|
Alopecia, Weight loss, Thrombocytopenia |
ORPHA:79242 |
| Saethre-Chotzen Syndrome |
|
Lambdoidal craniosynostosis, Coronal craniosynostosis, Hypoplasia of the maxilla, Plagiocephaly, ... |
OMIM:101400 |
| Osteogenesis Imperfecta, Type I |
|
Dentinogenesis imperfecta, Osteopenia, Otosclerosis, Biconcave flattened vertebrae, Increased sus... |
OMIM:166200 |
| Eosinophilic Gastroenteritis |
|
Allergic rhinitis, Leukocytosis, Eosinophilia, Weight loss, Anemia |
ORPHA:2070 |
| Central Diabetes Insipidus |
|
Diabetes insipidus, Weight loss, Failure to thrive |
ORPHA:178029 |
| Osteosarcoma |
|
Pathologic fracture, Weight loss, Joint swelling, Osteolysis |
ORPHA:668 |
| Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
|
Joint stiffness, Absent septum pellucidum, Agenesis of corpus callosum |
ORPHA:2182 |
| Cryptogenic Organizing Pneumonia |
|
Pneumothorax, Leukocytosis, Weight loss, Neutrophilia |
ORPHA:1302 |
| Primary Intestinal Lymphangiectasia |
|
Peritoneal effusion, Intestinal lymphangiectasia, Lymphopenia, Pleural effusion, Abnormal lymphat... |
ORPHA:90362 |
| Polymyositis |
|
Chondrocalcinosis, Weight loss, Arthritis, Hepatomegaly, Abnormal pulmonary interstitial morpholo... |
ORPHA:732 |
| Kikuchi-Fujimoto Disease |
|
Alopecia, Elevated circulating hepatic transaminase concentration, Abnormal lymph node morphology... |
ORPHA:50918 |
| Kennedy Disease |
|
Testicular atrophy, Type II diabetes mellitus, Decreased fertility, Erectile dysfunction |
ORPHA:481 |
| Townes-Brocks Syndrome |
|
Abnormal vertebral morphology, Hypospadias, Absent toe, Abnormal vagina morphology, Abnormality o... |
ORPHA:857 |
| Pulmonary Alveolar Microlithiasis |
|
Bronchitis, Interlobular septal thickening, Subpleural interstitial thickening, Gonadal calcifica... |
ORPHA:60025 |
| Budd-Chiari Syndrome |
|
Elevated circulating hepatic transaminase concentration, Acute hepatic failure, Portal hypertensi... |
ORPHA:131 |
| Pentalogy Of Cantrell |
|
Hypospadias, Aplasia/Hypoplasia of the radius, Polysplenia, Absent gallbladder, Encephalocele, Or... |
ORPHA:1335 |
| Paroxysmal Nocturnal Hemoglobinuria |
|
Impotence, Pancytopenia, Leukopenia, Erythroid hyperplasia, Reticulocytosis, Abnormal erythrocyte... |
ORPHA:447 |
| Beckwith-Wiedemann Syndrome |
|
Large placenta, Large fontanelles, Cryptorchidism, Hepatoblastoma, Hepatomegaly, Polycythemia, Ab... |
ORPHA:116 |
| Hereditary Central Diabetes Insipidus |
|
Diabetes insipidus, Weight loss |
ORPHA:30925 |
| Ermine Phenotype |
|
Iris hypopigmentation, Irregular hyperpigmentation, Abnormality of the nose, Hypopigmented skin p... |
ORPHA:999 |
| Neurofibromatosis Type 1 |
|
Hypopigmented skin patches, Genu valgum, Cryptorchidism, Leukemia, Genu varum, Precocious puberty... |
ORPHA:636 |
| Multiple Endocrine Neoplasia, Type Iib |
|
High, narrow palate, Elevated circulating calcitonin concentration, Thick lower lip vermilion, Fa... |
OMIM:162300 |
| Acrodermatitis Enteropathica |
|
Cerebral cortical atrophy, Alopecia, Ridged fingernail, Failure to thrive, Furrowed tongue, Abnor... |
ORPHA:37 |
| Holoprosencephaly 14 |
|
Cleft lip, Proboscis, Frontal bossing, Macrocephaly, Anteverted nares, Absent septum pellucidum, ... |
OMIM:619895 |
| Granulomatosis With Polyangiitis |
|
Diffuse alveolar hemorrhage, Nasal mucosa vasculitis, Oral ulcer, Localized pulmonary hemorrhage,... |
OMIM:608710 |
| Ramon Syndrome |
|
Pigmentary retinopathy, Delayed eruption of teeth, Hypertrichosis, Enlarged labia minora, Decreas... |
OMIM:266270 |
| Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Depressed nasal bridge, Failure to thrive, Acetabular spurs, Short ribs, Ambiguous genitalia, Pan... |
OMIM:615503 |
| Down Syndrome |
|
Shallow acetabular fossae, Atlantoaxial instability, Brushfield spots, Short middle phalanx of th... |
OMIM:190685 |
| Intellectual Developmental Disorder, X-Linked 112 |
|
Scoliosis, Cryptorchidism, Madelung deformity, Kyphoscoliosis, Microcephaly, Joint hypermobility,... |
OMIM:301111 |
| X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Scoliosis, Kyphosis |
ORPHA:99014 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Pneumonia, Reduced natural killer cell count, Anoperineal fistula, Bronchitis, Hepatitis, Osteoma... |
OMIM:619381 |
| Bifid Nose With Or Without Anorectal And Renal Anomalies |
|
Precocious puberty, Bulbous nose, Thick eyebrow, Short lingual frenulum, Brachycephaly, Bifid nos... |
OMIM:608980 |
| Oromandibular Dystonia |
|
Abnormality of the nose, Abnormal lip morphology, Abnormality of the temporomandibular joint, Abn... |
ORPHA:93958 |
| Multiple Endocrine Neoplasia Type 1 |
|
Increased serum serotonin, Increased circulating cortisol level, Pituitary prolactin cell adenoma... |
ORPHA:652 |
| Congenital Tufting Enteropathy |
|
Cholestatic liver disease, Choanal atresia, Failure to thrive, Orofacial cleft, Weight loss, Arth... |
ORPHA:92050 |
| Rett Syndrome, Congenital Variant |
|
Depressed nasal bridge, Bulbous nose, Hypoplasia of the corpus callosum, Thin upper lip vermilion... |
OMIM:613454 |
| Ulbright-Hodes Syndrome |
|
Clitoral hypertrophy, Fibular aplasia, Micrognathia, Narrow mouth, Cryptorchidism, Enlarged labia... |
ORPHA:3404 |
| Thymic Carcinoma |
|
Neoplasm of the thymus, Weight loss, Mediastinal lymphadenopathy |
ORPHA:99868 |
| Pneumocystosis |
|
Interstitial pneumonitis, Pleural effusion, Multiple pulmonary cysts, Weight loss, Acute infectio... |
ORPHA:723 |
| Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Wide nasal bridge, Decreased serum estradiol, Elevated circulating luteinizing hormone level, Hyp... |
ORPHA:572333 |
| Marfanoid Habitus With Situs Inversus |
|
Genu recurvatum, Mandibular prognathia, Scoliosis, Kyphosis, Hyperextensibility of the finger joints |
OMIM:609008 |
| Hirschsprung Disease |
|
Failure to thrive in infancy, Neoplasm of the thyroid gland, Weight loss |
ORPHA:388 |
| Systemic Capillary Leak Syndrome |
|
Pleural effusion, Leukocytosis, Pulmonary edema, Weight loss, Pancreatitis |
ORPHA:188 |
| Neuromuscular Oculoauditory Syndrome |
|
Wrist flexion contracture, Retinal pigment epithelial mottling, Knee flexion contracture, Agenesi... |
OMIM:618733 |
| Acute Adrenal Insufficiency |
|
Normocytic anemia, Failure to thrive, Androgen insufficiency, Increased circulating ACTH level, R... |
ORPHA:95409 |
| Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Testicular atrophy, Decreased fertility |
OMIM:313200 |
| Non-Functioning Paraganglioma |
|
Weight loss, Paraganglioma, Paraganglioma of head and neck |
ORPHA:94080 |
| Stevens-Johnson Syndrome |
|
Elevated circulating hepatic transaminase concentration, Recurrent respiratory infections, Acute ... |
ORPHA:36426 |
| Meacham Syndrome |
|
Accessory spleen, Septate vagina, Scimitar anomaly, Congenital alveolar dysplasia, Neonatal death... |
OMIM:608978 |
| Hermansky-Pudlak Syndrome 1 |
|
Gingival bleeding, Epistaxis, Hypopigmentation of the skin, Ocular albinism, Melanocytic nevus, F... |
OMIM:203300 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Occipital encephalocele, Hypoplasia of the brainstem, Type II lissencephaly, Decreased testicular... |
OMIM:615287 |
| Hypercalcemia, Infantile, 1 |
|
Weight loss, Decreased circulating parathyroid hormone level, Failure to thrive |
OMIM:143880 |
| Ciliary Dyskinesia, Primary, 53 |
|
Cerebellar vermis hypoplasia, Recurrent pneumonia, Polysplenia, Abdominal situs inversus, Chronic... |
OMIM:620642 |
| Pagod Syndrome |
|
Pulmonary artery hypoplasia, Abnormality of the uterus, Abnormal morphology of female internal ge... |
ORPHA:991 |
| Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Cerebellar vermis hypoplasia, Depressed nasal bridge, Aplastic clavicle, Micromelia, Hypoplasia o... |
OMIM:616546 |
| Lowe Oculocerebrorenal Syndrome |
|
Platyspondyly, Joint contracture of the hand, Rickets, Failure to thrive, Wrist swelling, Camptod... |
OMIM:309000 |
| Alström Syndrome |
|
Testicular fibrosis, Frontal balding, Decreased circulating T4 concentration, Hepatosplenomegaly,... |
ORPHA:64 |
| Heterotaxy, Visceral, 2, Autosomal |
|
Abdominal situs inversus, Polysplenia, Agenesis of corpus callosum, Microcephaly, Asplenia |
OMIM:605376 |
| Familial Colorectal Cancer Type X |
|
Uterine neoplasm, Pituitary adenoma, Pancreatic adenocarcinoma, Neoplasm of the thyroid gland, We... |
ORPHA:440437 |
| Autosomal Dominant Epidermolytic Ichthyosis |
|
Weight loss, Palmoplantar keratoderma, Hyperkeratosis |
ORPHA:312 |
| Igg4-Related Aortitis |
|
Low back pain, Hypereosinophilia, Weight loss |
ORPHA:449400 |
| Faciocardiorenal Syndrome |
|
Wide nasal bridge, Plagiocephaly, Failure to thrive, Underdeveloped nasal alae, Narrow mouth, Smo... |
ORPHA:1973 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Hyperlordosis, Vertebral fusion, Achilles tendon contracture, Macroglossia, Scoliosis, Kyphosis |
OMIM:607155 |
| Meckel Syndrome, Type 6 |
|
Hepatic fibrosis, Occipital encephalocele, Cleft upper lip, Absent gallbladder, Hepatic cysts, Cy... |
OMIM:612284 |
| Carney Complex, Type 1 |
|
Palatine myxoma, Pituitary adenoma, Multiple lentigines, Pheochromocytoma, Thyroid carcinoma, Thy... |
OMIM:160980 |
| Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 |
|
Joint subluxation, Kyphosis, Joint hypermobility, Wormian bones, Hyperlordosis, Scoliosis, Hip di... |
OMIM:617821 |
| Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Recurrent aphthous stomatitis, Aphthous ulcer, Weight loss |
OMIM:266600 |
| Peritoneal Cystic Mesothelioma |
|
Metrorrhagia, Peritonitis, Weight loss, Dyspareunia, Menorrhagia |
ORPHA:168816 |
| Multiple Myeloma |
|
Osteopenia, Pathologic fracture, Pleural effusion, Splenomegaly, Weight loss, Lymphadenopathy, An... |
ORPHA:29073 |
| Yao Syndrome |
|
Weight loss, Pleuritis, Arthritis, Oral ulcer |
OMIM:617321 |
| Nephroblastoma |
|
Neoplasm of the liver, Weight loss, Lymphadenopathy, Neoplasm of the lung |
ORPHA:654 |
| Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Absent external genitalia, Block vertebrae, Supernumerary vertebrae, Aplasia of the vagina, Short... |
OMIM:271520 |
| Amoebiasis Due To Entamoeba Histolytica |
|
Elevated circulating hepatic transaminase concentration, Pleural effusion, Leukocytosis, Weight l... |
ORPHA:67 |
| Igg4-Related Retroperitoneal Fibrosis |
|
Normocytic anemia, Varicocele, Rheumatoid arthritis, Hashimoto thyroiditis, Low back pain, Weight... |
ORPHA:49041 |
| Granulomatosis With Polyangiitis |
|
Epistaxis, Abnormality of the nose, Diabetes insipidus, Recurrent intrapulmonary hemorrhage, Abno... |
ORPHA:900 |
| Heart Defects, Congenital, And Other Congenital Anomalies |
|
Total absence of the pericardium, Hypoplastic tricuspid valve, Glycosuria, Tetralogy of Fallot, H... |
OMIM:600001 |
| Polyarteritis Nodosa |
|
Abnormal lung morphology, Weight loss, Pleuritis |
ORPHA:767 |
| Vipoma |
|
Intrahepatic cholestasis, Follicular thyroid carcinoma, Pituitary adenoma, Increased circulating ... |
ORPHA:97282 |
| Achard Syndrome |
|
Joint hypermobility, Brachycephaly, Micrognathia, Broad skull |
OMIM:100700 |
| Pemphigus Vulgaris |
|
Erosion of oral mucosa, Alopecia of scalp, Oral mucosal blisters, Weight loss, Acantholysis |
ORPHA:704 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Cholestasis, Hepatosplenomegaly, Micrognathia, Hypersplenism, Congenital hepatic fibrosis, Hepato... |
ORPHA:731 |
| Secondary Short Bowel Syndrome |
|
Central hypothyroidism, Failure to thrive, Cholestasis, Primary hypothyroidism, Weight loss |
ORPHA:95427 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Goiter, Increased circulating T4 concentration, Weight loss, Increased circulating free T4 concen... |
OMIM:613239 |
| Paternal Uniparental Disomy Of Chromosome 5 |
|
Rhizomelic arm shortening, Posterior plagiocephaly, Short lower limbs, Kyphoscoliosis |
ORPHA:96190 |
| Developmental Malformations-Deafness-Dystonia Syndrome |
|
Hypoplastic scapulae, Micromelia, Orofacial cleft, Macroglossia, Scoliosis, Kyphosis |
ORPHA:79107 |
| X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Uterine neoplasm, Failure to thrive, Aspiration pneumonia, Vaginal neoplasm, Abnormality of the f... |
ORPHA:1018 |
| Igg4-Related Kidney Disease |
|
Lymphadenitis, Decreased liver function, Abnormal mesentery morphology, Sialadenitis, Interstitia... |
ORPHA:449395 |
| Mucolipidosis Iii Gamma |
|
Joint stiffness, Genu valgum, Claw hand deformity, Short neck, Hyperlordosis, Finger joint contra... |
OMIM:252605 |
| Glucagonoma |
|
Intrahepatic cholestasis, Pituitary adenoma, Increased circulating cortisol level, Increased circ... |
ORPHA:97280 |
| Tropical Endomyocardial Fibrosis |
|
Hepatomegaly, Eosinophilia, Cachexia, Splenomegaly |
ORPHA:75565 |
| Neuroendocrine Tumor Of The Colon |
|
Increased serum serotonin, Elevated circulating hepatic transaminase concentration, Chronic nonin... |
ORPHA:100080 |
| Neuroblastoma |
|
Elevated circulating catecholamine level, Pathologic fracture, Weight loss, Lymphadenopathy, Thro... |
ORPHA:635 |
| Grfoma |
|
Intrahepatic cholestasis, Cholelithiasis, Intestinal carcinoid, Pituitary adenoma, Increased circ... |
ORPHA:97261 |
| Neuroendocrine Tumor Of Stomach |
|
Increased serum serotonin, Hepatic failure, Elevated circulating hepatic transaminase concentrati... |
ORPHA:100075 |
| Loeffler Endocarditis |
|
Eosinophilia, Weight loss |
ORPHA:75566 |
| Focal Myositis |
|
Weight loss, Limitation of joint mobility |
ORPHA:48918 |
| Cutaneous Telangiectasia And Cancer Syndrome, Familial |
|
Alopecia, Carious teeth, Yellow nails, Sparse lateral eyebrow, Ridged nail, Nail dystrophy, Conic... |
OMIM:614564 |
| Medulloblastoma |
|
Elevated circulating hepatic transaminase concentration, Abnormal bone marrow cell morphology, De... |
ORPHA:616 |
| Somatostatinoma |
|
Intrahepatic cholestasis, Pituitary adenoma, Increased circulating cortisol level, Increased circ... |
ORPHA:97283 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Platyspondyly, Rhizomelic arm shortening, Turricephaly, Cerebellar hypoplasia, Agenesis of corpus... |
ORPHA:93317 |
| Rat-Bite Fever |
|
Septic arthritis, Lymphadenitis, Parotitis, Weight loss, Pancreatitis, Oligoarthritis, Arthritis,... |
ORPHA:31205 |
| Autosomal Dominant Cutis Laxa |
|
Genu recurvatum, Osteopenia, Peripheral pulmonary artery stenosis, Bronchiolitis, Hip dislocation... |
ORPHA:90348 |
| Mismatch Repair Cancer Syndrome 1 |
|
Hypopigmentation of the skin, Agenesis of corpus callosum, Multiple cafe-au-lait spots, Axillary ... |
OMIM:276300 |
| Tetraamelia Syndrome 1 |
|
Hypoplasia of the fallopian tube, Absent external genitalia, Choanal atresia, Single naris, Cleft... |
OMIM:273395 |
| Beta-Ketothiolase Deficiency |
|
Hepatomegaly, Weight loss, Leukocytosis, Thrombocytosis |
ORPHA:134 |
| Neuroendocrine Tumor Of The Rectum |
|
Increased serum serotonin, Elevated circulating hepatic transaminase concentration, Chronic nonin... |
ORPHA:100081 |
| Neuroendocrine Tumor Of Anal Canal |
|
Increased serum serotonin, Elevated circulating hepatic transaminase concentration, Chronic nonin... |
ORPHA:100082 |
| Oculocutaneous Albinism Type 4 |
|
Iris hypopigmentation, Hypopigmentation of the skin, White hair, Ocular albinism, Abnormality of ... |
ORPHA:79435 |
| Reactive Arthritis |
|
Osteomyelitis, Recurrent aphthous stomatitis, Abnormal pleura morphology, Joint stiffness, Joint ... |
ORPHA:29207 |
| Cardiac-Urogenital Syndrome |
|
Accessory spleen, Wide nasal bridge, Tracheomalacia, Bifid scrotum, Scimitar anomaly, Cryptorchid... |
OMIM:618280 |
| Lymphedema-Distichiasis Syndrome |
|
Yellow nails, Chylothorax, Kyphosis, Cleft upper lip, Micrognathia, Distichiasis, Patent ductus a... |
OMIM:153400 |
| Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Pulmonary artery hypoplasia, Optic nerve hypoplasia, Bulbous nose, 11 pairs of ribs, Micrognathia... |
OMIM:620025 |
| Perry Syndrome |
|
Weight loss |
ORPHA:178509 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Weight loss, Hyperthyroidism, Goiter |
OMIM:188580 |
| Nodular Non-Suppurative Panniculitis |
|
Hepatomegaly, Weight loss, Splenomegaly |
ORPHA:33577 |
| Holoprosencephaly 1 |
|
Proboscis, Aplasia of the nose, Median cleft palate, Agenesis of corpus callosum, Cerebellar hypo... |
OMIM:236100 |
| Lipomatosis, Multiple Symmetric, With Or Without Axonal Peripheral Neuropathy |
|
Macroglossia, Kyphosis |
OMIM:151800 |
| Chromosome Xq26.3 Duplication Syndrome |
|
Pituitary adenoma, Kyphosis, Increased circulating prolactin concentration, Widely spaced teeth, ... |
OMIM:300942 |
| Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Pigmentary retinopathy, Osteomyelitis, Flexion contracture of finger, Bone spicule pigmentation o... |
ORPHA:88628 |
| Bullous Pemphigoid |
|
Weight loss, Diabetes mellitus, Oral mucosal blisters |
ORPHA:703 |
| Behçet Disease |
|
Recurrent aphthous stomatitis, Pleural effusion, Splenomegaly, Oral ulcer, Orchitis, Weight loss,... |
ORPHA:117 |
| Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Decreased proportion of memory B cells, Reduced natural killer cell count, Anoperineal fistula, O... |
OMIM:301074 |
| Brown-Vialetto-Van Laere Syndrome 1 |
|
Tongue atrophy, Ankle clonus, Recurrent respiratory infections, Scoliosis, Kyphosis |
OMIM:211530 |
| Simple Cryoglobulinemia |
|
Chronic lymphatic leukemia, Weight loss, Arthritis, Abnormal lung morphology, Viral hepatitis |
ORPHA:91139 |
| Cerebrocostomandibular Syndrome |
|
Hydranencephaly, Tracheomalacia, Myelomeningocele, Cerebral calcification, Micrognathia, Microcep... |
ORPHA:1393 |
| Hypermobile Ehlers-Danlos Syndrome |
|
High, narrow palate, Menometrorrhagia, Epistaxis, Dental crowding, Elbow dislocation, Joint dislo... |
ORPHA:285 |
| Frontofacionasal Dysplasia |
|
Bifid uvula, Hypoplasia of the frontal bone, Cranium bifidum occultum, Cleft upper lip, Underdeve... |
OMIM:229400 |
| Brachyolmia Type 3 |
|
Platyspondyly, Short femoral neck, Barrel-shaped chest, Short neck, Scoliosis, Kyphosis |
OMIM:113500 |
| Autosomal Recessive Ataxia, Beauce Type |
|
Scoliosis, Abnormal cerebral white matter morphology, Kyphosis, Ankle clonus |
ORPHA:88644 |
| Glossopharyngeal Neuralgia |
|
Abnormality of the cervical spine, Weight loss, Mandibular pain, Abnormal palate morphology |
ORPHA:221098 |
| Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Hepatosplenomegaly, Weight loss, Hemophagocytosis |
ORPHA:86884 |
| Postencephalitic Parkinsonism |
|
Abnormal substantia nigra morphology, Camptocormia, Open mouth, Kyphosis |
ORPHA:97349 |
| Rheumatoid Arthritis |
|
Rheumatoid arthritis, Polyarticular arthritis, Joint stiffness, Joint swelling, Weight loss |
OMIM:180300 |
| Phace Syndrome |
|
Ectopic thyroid, Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly, Heterochromia ... |
ORPHA:42775 |
| Ppoma |
|
Intrahepatic cholestasis, Cholelithiasis, Intestinal carcinoid, Pituitary adenoma, Increased circ... |
ORPHA:97278 |
| Scapuloperoneal Spinal Muscular Atrophy |
|
Kyphosis, Small hand, Scoliosis, Hyperlordosis |
OMIM:181405 |
| Craniofacial Microsomia 1 |
|
Hypoplasia of the maxilla, Block vertebrae, Occipital encephalocele, Cleft upper lip, Micrognathi... |
OMIM:164210 |
| Choreoacanthocytosis |
|
Cerebral cortical atrophy, Temporomandibular joint crepitus, Lateral ventricle dilatation, Small ... |
ORPHA:2388 |
| Renal Nutcracker Syndrome |
|
Varicocele, Dysmenorrhea, Vulval varicose vein, Weight loss, Dyspareunia, Anemia, Infertility |
ORPHA:71273 |
| Steinert Myotonic Dystrophy |
|
Hyperinsulinemia, Decreased fertility, Secondary hyperparathyroidism, Abnormality of the tongue m... |
ORPHA:273 |
| Lynch Syndrome |
|
Pituitary adenoma, Pancreatic adenocarcinoma, Endometrial carcinoma, Neoplasm of the thyroid glan... |
ORPHA:144 |
| Ménétrier Disease |
|
Weight loss, Hypochromic microcytic anemia |
ORPHA:2494 |
| Isolated Permanent Neonatal Diabetes Mellitus |
|
Neonatal insulin-dependent diabetes mellitus, Pancreatic hypoplasia, Downturned corners of mouth,... |
ORPHA:99885 |
| Oculocutaneous Albinism Type 1A |
|
Iris hypopigmentation, Hypopigmentation of the skin, Ocular albinism, Freckling, Albinism, Hypopi... |
ORPHA:79431 |
| Dermatomyositis |
|
Abnormal eosinophil morphology, Chondrocalcinosis, Elevated circulating hepatic transaminase conc... |
ORPHA:221 |
| Neuroblastoma, Susceptibility To, 1 |
|
Anemia, Weight loss, Failure to thrive |
OMIM:256700 |
| Chromosome 17Q23.1-Q23.2 Deletion Syndrome |
|
Depressed nasal bridge, Plagiocephaly, Microcephaly, Patent ductus arteriosus, Chalazion, Scolios... |
OMIM:613355 |
| Oculocutaneous Albinism Type 3 |
|
Iris hypopigmentation, Generalized hypopigmentation of hair, Hypopigmentation of the skin, Absent... |
ORPHA:79433 |
| Oculocutaneous Albinism Type 2 |
|
Iris hypopigmentation, Hypopigmentation of the skin, White hair, Abnormality of retinal pigmentat... |
ORPHA:79432 |
| Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities |
|
Metopic synostosis, Cryptorchidism, Rectoperineal fistula, Agenesis of corpus callosum |
OMIM:618748 |
| Malignant Peritoneal Mesothelioma |
|
Peritonitis, Weight loss |
ORPHA:168811 |
| Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Flexion contracture, Scoliosis, Kyphosis, Ankle clonus |
OMIM:609541 |
| Congenital Fibrosis Of Extraocular Muscles |
|
Finger aplasia, Plagiocephaly, Polymicrogyria, Hypogonadotropic hypogonadism, Optic nerve hypoplasia |
ORPHA:45358 |
| Acute Disseminated Encephalomyelitis |
|
Myelitis, Abnormal spinal cord morphology |
ORPHA:83597 |
| Zollinger-Ellison Syndrome |
|
Hyperparathyroidism, Thyroid adenoma, Pituitary adenoma, Increased circulating cortisol level, Pi... |
ORPHA:913 |
| Progressive Multifocal Leukoencephalopathy |
|
Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T cells, Abnorm... |
ORPHA:217260 |
| Adrenomyeloneuropathy |
|
Dorsal column degeneration, Atrophy of the spinal cord, Abnormal spinal cord morphology |
ORPHA:139399 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Extraadrenal pheochromocytoma, Adrenal pheochromocytoma, Weight loss, Paraganglioma of head and n... |
ORPHA:276621 |
| Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies |
|
Downturned corners of mouth, Thin upper lip vermilion, Bilateral camptodactyly, Short fourth meta... |
OMIM:619557 |
| Oculocutaneous Albinism Type 1B |
|
Iris hypopigmentation, Hypopigmentation of the skin, Melanocytic nevus, Abnormality of retinal pi... |
ORPHA:79434 |
| X-Linked Cerebral Adrenoleukodystrophy |
|
Myelopathy, Abnormal spinal cord morphology |
ORPHA:139396 |
| Humeroradial Synostosis |
|
Wide nasal bridge, Brachycephaly, Humeroradial synostosis |
OMIM:236400 |
| Structural Heart Defects And Renal Anomalies Syndrome |
|
Partial anomalous pulmonary venous return, Microcephaly, Partial agenesis of the corpus callosum |
OMIM:617478 |
| Inflammatory Bowel Disease 11 |
|
Weight loss |
OMIM:191390 |
| Klatskin Tumor |
|
Weight loss, Cholangiocarcinoma, Lymphadenopathy, Hepatomegaly, Jaundice, Extrahepatic cholestasis |
ORPHA:99978 |
| Lesch-Nyhan Syndrome |
|
Testicular atrophy, Podagra, Megaloblastic anemia, Hip dislocation |
OMIM:300322 |
| Postinfectious Vasculitis |
|
Pneumonia, Ischemic stroke, Orchitis, Weight loss, Arthritis, Recurrent streptococcus pneumoniae ... |
ORPHA:48435 |
| Hereditary Late-Onset Parkinson Disease |
|
Cerebral cortical atrophy, Lewy bodies, Weight loss, Gliosis, Hyposmia |
ORPHA:411602 |
| African Trypanosomiasis |
|
Alopecia, Myelopathy, Abnormality of the menstrual cycle, Infertility, Hepatosplenomegaly, Spleno... |
ORPHA:3385 |
| Systemic Lupus Erythematosus |
|
Alopecia, Leukopenia, Oral ulcer, Abnormal pigmentation of the oral mucosa, Weight loss, Lymphade... |
ORPHA:536 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Primary amenorrhea, Testicular atrophy, Premature ovarian insufficiency, Secondary amenorrhea, Hy... |
OMIM:157640 |
| Gallbladder Neuroendocrine Tumor |
|
Biliary tract neoplasm, Neuroendocrine neoplasm, Chronic noninfectious lymphadenopathy, Cholecyst... |
ORPHA:100086 |
| Fatal Familial Insomnia |
|
Weight loss, Cerebral cortex with spongiform changes |
OMIM:600072 |
| Myasthenic Syndrome, Congenital, 20, Presynaptic |
|
Arthrogryposis multiplex congenita, Scoliosis, Kyphosis |
OMIM:617143 |
| Dystonia 1, Torsion, Autosomal Dominant |
|
Kyphosis, Scoliosis, Hyperlordosis, Multiple joint contractures |
OMIM:128100 |
| Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome |
|
Vaginal fistula, Aplasia/Hypoplasia of the phalanges of the toes, Elbow dislocation, Abnormal fem... |
ORPHA:1112 |
| Congenital Enterocyte Heparan Sulfate Deficiency |
|
Weight loss |
ORPHA:103910 |
| Familial Thrombocytosis |
|
Chronic myelogenous leukemia, Splenomegaly, Acute myeloid leukemia, Weight loss, Thrombocytosis |
ORPHA:71493 |
| Pseudoxanthoma Elasticum, Forme Fruste |
|
High, narrow palate, Calcification of falx cerebri, High palate, Scoliosis, Kyphosis |
OMIM:177850 |
| Cap Polyposis |
|
Weight loss |
ORPHA:160148 |
| Malignant Atrophic Papulosis |
|
Peritonitis, Ischemic stroke, Pleural effusion, Weight loss |
ORPHA:679 |
| Juvenile Dermatomyositis |
|
Alopecia, Limitation of joint mobility, Weight loss, Arthritis, Pulmonary fibrosis |
ORPHA:93672 |
| Nocardiosis |
|
Pneumonia, Lymphadenitis, Emphysema, Osteomyelitis, Pleural effusion, Peritonitis, Pneumothorax, ... |
ORPHA:31204 |
| Perry Syndrome |
|
Weight loss |
OMIM:168605 |
| Ileal Neuroendocrine Tumor |
|
Increased serum serotonin, Hepatic failure, Elevated circulating hepatic transaminase concentrati... |
ORPHA:100078 |
| Hereditary Pheochromocytoma-Paraganglioma |
|
Extraadrenal pheochromocytoma, Adrenal pheochromocytoma, Weight loss, Paraganglioma of head and n... |
ORPHA:29072 |
| Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Activating thyroid-stimulating hormone receptor defect, Thyroid hyperplasia, Goiter, Weight loss,... |
ORPHA:424 |
| Liposarcoma |
|
Weight loss |
ORPHA:69078 |
| Malt Lymphoma |
|
Abnormality of the thyroid gland, Weight loss, Lymphadenopathy, Anemia, Recurrent respiratory inf... |
ORPHA:52417 |
| Pterygium Colli-Intellectual Disability-Digital Anomalies Syndrome |
|
Highly arched eyebrow, Brachycephaly, Enlarged interphalangeal joints |
ORPHA:2988 |
| Limb Body Wall Complex |
|
Abnormal heart morphology, Ventricular septal defect, Atrial septal defect, Abnormal spinal cord ... |
ORPHA:2369 |
| Igg4-Related Dacryoadenitis And Sialadenitis |
|
Enlarged lacrimal glands, Abnormality of the submandibular glands, Enlargement of parotid gland, ... |
ORPHA:79078 |
| Albinism, Oculocutaneous, Type Ia |
|
White hair, Ocular albinism, Absent skin pigmentation, Blue irides, Albinism, Hypopigmentation of... |
OMIM:203100 |
| Shprintzen Omphalocele Syndrome |
|
Flared nostrils, Wide nasal bridge, Short columella, Lumbar hyperlordosis, Decreased body weight,... |
OMIM:182210 |
| Pyomyositis |
|
Testicular teratoma, Weight loss, Leukocytosis |
ORPHA:764 |
| Parkinson Disease 4, Autosomal Dominant |
|
Weight loss, Lewy bodies |
OMIM:605543 |
| Familial Gestational Hyperthyroidism |
|
Activating thyroid-stimulating hormone receptor defect, Thyroid hyperplasia, Goiter, Weight loss,... |
ORPHA:99819 |
| Alkaptonuria |
|
Limited hip movement, Intervertebral disk degeneration, Arthropathy, Low back pain, Limited shoul... |
OMIM:203500 |
| Gerstmann-Straussler Disease |
|
Weight loss, Neurofibrillary tangles |
OMIM:137440 |
| Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Weight loss, Retinal pigment epithelial mottling |
OMIM:607459 |
| Glucose-Galactose Malabsorption |
|
Weight loss, Failure to thrive |
ORPHA:35710 |
| Autosomal Recessive Spastic Paraplegia Type 35 |
|
Cerebral cortical atrophy, Eye of the tiger anomaly of globus pallidus, Hypoplasia of the corpus ... |
ORPHA:171629 |
| Superficial Siderosis |
|
Atrophy of the spinal cord, Abnormal spinal cord morphology |
ORPHA:247245 |
| Autoimmune Pulmonary Alveolar Proteinosis |
|
Crazy paving pattern, Weight loss, Intraalveolar phospholipid accumulation |
ORPHA:747 |
| Tropical Pancreatitis |
|
Insulin-dependent but ketosis-resistant diabetes, Pancreatic adenocarcinoma, Chronic calcifying p... |
ORPHA:103918 |
| Microphthalmia, Syndromic 1 |
|
High, narrow palate, Tooth malposition, Joint contracture of the hand, Dental crowding, Cleft upp... |
OMIM:309800 |
| Thyrotoxic Periodic Paralysis |
|
Graves disease, Obesity, Weight loss, Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Thyrot... |
ORPHA:79102 |
| Amoebiasis Due To Free-Living Amoebae |
|
Myocardial necrosis, Abnormal spinal cord morphology |
ORPHA:68 |
| Acquired Central Diabetes Insipidus |
|
Diabetes insipidus, Weight loss |
ORPHA:95626 |
| Pancreatoblastoma |
|
Pancreatic calcification, Jaundice, Weight loss, Abnormal lymph node morphology |
ORPHA:677 |
| Oculopharyngodistal Myopathy 1 |
|
High palate, Weight loss, Abnormal cerebral white matter morphology |
OMIM:164310 |
| Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Platyspondyly, Hypoplasia of the maxilla, Hypoplasia of the odontoid process, Kyphosis, Anterior ... |
OMIM:300106 |
| Primary Fanconi Renotubular Syndrome |
|
Osteomalacia, Hypophosphatemic rickets, Increased susceptibility to fractures, Weight loss, Pulmo... |
ORPHA:3337 |
| Spondyloarthropathy, Susceptibility To, 1 |
|
Hip osteoarthritis, Sacroiliac arthritis, Back pain, Oligoarthritis, Enthesitis, Kyphosis |
OMIM:106300 |
| Carney-Stratakis Syndrome |
|
Weight loss, Paraganglioma |
ORPHA:97286 |
| Goodpasture Syndrome |
|
Reticular pattern on pulmonary HRCT, Pulmonary hemorrhage, Nodular pattern on pulmonary HRCT, Blo... |
OMIM:233450 |
| Primary Sjögren Syndrome |
|
Abnormal spinal cord morphology |
ORPHA:289390 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Normocytic anemia, Reduced hematocrit, Abnormality of retinal pigmentation, Weight loss, Normochr... |
ORPHA:91500 |
| Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Scoliosis, Kyphosis, Aspiration pneumonia |
OMIM:619482 |
