| Fraxf Syndrome |
|
Folate-dependent fragile site at Xq28 |
ORPHA:100974 |
| Female Infertility Due To Oocyte Meiotic Arrest |
|
Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A... |
ORPHA:488191 |
| Mosaic Variegated Aneuploidy Syndrome 4 |
|
Abnormality of chromosome stability |
OMIM:620153 |
| 46,Xx Testicular Difference Of Sex Development |
|
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries |
ORPHA:393 |
| Spastic Paraplegia 25, Autosomal Recessive |
|
Spinal cord compression |
OMIM:608220 |
| Warburg Micro Syndrome 1 |
|
Cerebellar vermis hypoplasia, Anteverted nares, External genital hypoplasia, Kyphoscoliosis, Micr... |
OMIM:600118 |
| Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Abnormality of the ovary, Hypogonadism, Decreased testicular size |
ORPHA:1875 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Familial Hyperprolactinemia |
|
Hemorrhagic ovarian cyst, Female hypogonadism, Menorrhagia, Infertility, Oligomenorrhea, Amenorrhea |
ORPHA:397685 |
| Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Hypoplasia of the pons, Synophrys, Flexion contracture, Low anterior hairline, Short philtrum, Wi... |
OMIM:619293 |
| Pycnodysostosis |
|
Ridged nail, Obtuse angle of mandible, Persistent open anterior fontanelle, Decreased response to... |
ORPHA:763 |
| Mcdonough Syndrome |
|
Mandibular prognathia, Cachexia, Underdeveloped nasal alae, Prominent nose, Cryptorchidism, Synop... |
ORPHA:2471 |
| Fanconi Anemia, Complementation Group S |
|
Chromosome breakage, Anteverted nares, Prominent nasal bridge, Macrodontia, Microcephaly, Underde... |
OMIM:617883 |
| Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Spinal cord compression, Myelopathy, Diabetes mellitus |
OMIM:602475 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Diffuse cerebral atrophy, Prominent nose, Micrognathia, Basal ganglia calcification, Flexion cont... |
OMIM:214150 |
| Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hyperinsulinemia, Hypoglycemia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:610021 |
| Bone Marrow Failure Syndrome 3 |
|
Congenital hip dislocation, Aplastic anemia, Micrognathia, Pancreatic steatosis, Oral ulcer, Redu... |
OMIM:617052 |
| 3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
|
Hypoglycemia |
ORPHA:35701 |
| Congenital Disorder Of Glycosylation, Type Iik |
|
Joint laxity, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Kyphos... |
OMIM:614727 |
| Gonadoblastoma |
|
Female external genitalia in individual with 46,XY karyotype, Gonadal calcification, Gonadal dysg... |
ORPHA:206484 |
| Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Osteopenia, Prominent nose, Short neck, Brachycephaly, Short philtrum, Anteverted nares, Scoliosi... |
OMIM:616801 |
| Lig4 Syndrome |
|
Hepatomegaly, Hypoplasia of penis, Pancytopenia, Abnormality of chromosome stability, Microcephal... |
ORPHA:99812 |
| Craniofacial Conodysplasia |
|
Spinal cord compression |
ORPHA:85168 |
| Alpha-Mannosidosis |
|
Mandibular prognathia, Craniofacial hyperostosis, Hepatomegaly, Recurrent respiratory infections,... |
ORPHA:61 |
| Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Elevated hepatic transaminase, Hepatomegaly, Cerebral white matter atrophy, Thin upper lip vermil... |
ORPHA:329178 |
| Microcephaly 16, Primary, Autosomal Recessive |
|
Hypermelanotic macule, Micrognathia, Cryptorchidism, Simplified gyral pattern, Knee flexion contr... |
OMIM:616681 |
| Renpenning Syndrome |
|
Mandibular prognathia, Abnormal hairshaft morphology, Alopecia, Diabetes mellitus, Hypospadias, M... |
ORPHA:3242 |
| Transaldolase Deficiency |
|
Short neck, Synophrys, Deep philtrum, Hepatic fibrosis, Short philtrum, Hepatomegaly, Depressed n... |
OMIM:606003 |
| 3Q13 Microdeletion Syndrome |
|
Hypoplasia of penis, Anteverted nares, Short neck, Joint stiffness, Cryptorchidism, Wide nasal br... |
ORPHA:1621 |
| Camptodactyly Syndrome, Guadalajara Type 1 |
|
Mandibular prognathia, Synophrys, Brachycephaly, Abnormal form of the vertebral bodies, Downturne... |
ORPHA:1327 |
| Seckel Syndrome 1 |
|
Cerebellar vermis hypoplasia, Dental crowding, Selective tooth agenesis, Prominent nose, Microgna... |
OMIM:210600 |
| 46,Xy Complete Gonadal Dysgenesis |
|
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries |
ORPHA:242 |
| Forsythe-Wakeling Syndrome |
|
Frontal bossing, Prominent nasal bridge, Microcephaly, Osteoporosis, Decreased body weight, Throm... |
OMIM:613606 |
| Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Anteverted nares, Ulnar deviation of the wrist, Micrognathia, Cryptorchidism, Unilambdoid synosto... |
OMIM:618577 |
| Glucocorticoid Deficiency 3 |
|
Recurrent hypoglycemia |
OMIM:609197 |
| Hallermann-Streiff Syndrome |
|
Selective tooth agenesis, Micrognathia, High, narrow palate, Brachycephaly, High palate, Sparse h... |
OMIM:234100 |
| Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
| Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum |
|
Depressed nasal bridge, Microcephaly, Short neck, Cryptorchidism, Bulbous nose, Micrognathia, Age... |
OMIM:618766 |
| Hepatic Adenomas, Familial |
|
Polycystic ovaries |
OMIM:142330 |
| Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... |
ORPHA:263458 |
| Scleroderma, Familial Progressive |
|
Chromosome breakage, Abnormality of chromosome stability |
OMIM:181750 |
| Immunodeficiency 54 |
|
Hepatomegaly, Recurrent respiratory infections, Chromosome breakage, Microcephaly, Splenomegaly, ... |
OMIM:609981 |
| Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Hypoglycemia, Cardiomyopathy |
OMIM:609016 |
| Wt Limb-Blood Syndrome |
|
Pancytopenia, Micrognathia, Absent thumb, Cryptorchidism, Short thumb, Retrognathia, Radioulnar s... |
OMIM:194350 |
| Nijmegen Breakage Syndrome-Like Disorder |
|
Chromosomal breakage induced by ionizing radiation |
OMIM:613078 |
| Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Increased vertebral height, Short philtrum, Hypothyroidism, Hashimoto thyroiditis, Hepatomegaly, ... |
OMIM:613385 |
| Moynahan Syndrome |
|
Alopecia, Cachexia, Microcephaly, Hyperkeratosis, Hypogonadism, Sparse hair |
ORPHA:2574 |
| Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Osteopenia, Flat occiput, Dental crowding, External genital hypoplasia, Short neck, Micrognathia,... |
ORPHA:251028 |
| Macrocephaly, Acquired, With Impaired Intellectual Development |
|
Narrow nasal bridge, Probst bundles, Unilateral cryptorchidism, Anteverted nares, Sparse eyebrow,... |
OMIM:618286 |
| Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Osteopenia, Thoracic scoliosis, Multiple joint contractures, Selective tooth agenesis, Microcytic... |
ORPHA:2959 |
| Hall-Riggs Syndrome |
|
Anteverted nares, Depressed nasal bridge, Prominent nose, Microcephaly, Kyphosis, Thick lower lip... |
OMIM:234250 |
| 46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome |
|
Fused labia minora, Ambiguous genitalia, female, Primary amenorrhea, Abnormality of the uterus, A... |
ORPHA:2975 |
| Potocki-Lupski Syndrome |
|
Mandibular prognathia, Small for gestational age, Dental crowding, Microcephaly, Micrognathia, De... |
OMIM:610883 |
| Craniosynostosis 3 |
|
Sagittal craniosynostosis, Partial agenesis of the corpus callosum, Low anterior hairline, Dental... |
OMIM:615314 |
| X-Linked Intellectual Disability, Cabezas Type |
|
Hypoplasia of penis, Prominent nose, Short neck, Synophrys, High palate, Biparietal narrowing, Sh... |
ORPHA:85293 |
| Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Frontal bossing, Enlarged joints, Pectus excavatum, Delayed epiphyseal ossification, Wide nasal b... |
ORPHA:166024 |
| Prieto Syndrome |
|
11 pairs of ribs, Abnormality of the dentition, Prominent nose, Cryptorchidism, Osteoporosis, Cer... |
OMIM:309610 |
| Lig4 Syndrome |
|
Recurrent respiratory infections, Pancytopenia, Small for gestational age, Prominent nose, Microc... |
OMIM:606593 |
| Aredyld Syndrome |
|
Mandibular prognathia, Craniofacial hyperostosis, Hepatomegaly, Smooth philtrum, Abnormal dental ... |
ORPHA:1133 |
| Rubinstein-Taybi Syndrome 2 |
|
Thick eyebrow, Highly arched eyebrow, Prominent nose, Microcephaly, Micrognathia, Carious teeth, ... |
OMIM:613684 |
| Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Tented upper lip vermilion, Short neck, Micrognathia, Knee flexion contracture, Short philtrum, A... |
ORPHA:371364 |
| Aromatase Deficiency |
|
Ovarian cyst, Hypergonadotropic hypogonadism, Primary amenorrhea, Female pseudohermaphroditism |
OMIM:613546 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal cortical gyration, Microcepha... |
OMIM:614576 |
| Congenital Disorder Of Glycosylation, Type Iiy |
|
Microcephaly, Hip subluxation, Brachycephaly, Reduced bone mineral density, Cerebral cortical atr... |
OMIM:620200 |
| X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome |
|
Abnormal number of incisors, Prominent nose, Cryptorchidism, Osteoporosis, Cerebral atrophy, Pate... |
ORPHA:2958 |
| Aicardi-Goutieres Syndrome 4 |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Cerebral calcification, Thrombocytopen... |
OMIM:610333 |
| Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Pancytopenia, Aplastic anemia, Microcephaly, Abnormality of the dentition, Reticulated skin pigme... |
OMIM:613989 |
| Hajdu-Cheney Syndrome |
|
Osteopenia, Short neck, Absent frontal sinuses, Micrognathia, Synophrys, Low anterior hairline, D... |
ORPHA:955 |
| Lowry-Maclean Syndrome |
|
Osteopenia, Micrognathia, Bilateral cryptorchidism, Hypoplasia of the maxilla, High, narrow palat... |
ORPHA:2409 |
| Schimke Immunoosseous Dysplasia |
|
Osteopenia, Short neck, Bilateral cryptorchidism, Elevated circulating thyroid-stimulating hormon... |
OMIM:242900 |
| Maternal Uniparental Disomy Of Chromosome 1 |
|
Hepatomegaly, Pancytopenia, Delayed closure of the anterior fontanelle, Downturned corners of mou... |
ORPHA:251009 |
| Takenouchi-Kosaki Syndrome |
|
Synophrys, Downturned corners of mouth, Short philtrum, Widely spaced teeth, Abnormal periventric... |
OMIM:616737 |
| Cardiofaciocutaneous Syndrome 1 |
|
Osteopenia, Hyperextensibility of the finger joints, Short neck, Micrognathia, Deep philtrum, Hig... |
OMIM:115150 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Frontal bossing, Sandwich appearance of vertebral bodies, Pancytopenia, Hepatomegaly, Increased b... |
OMIM:259700 |
| Mccune-Albright Syndrome |
|
Aneurysmal bone cyst, Hyperthyroidism, Osteomalacia, Precocious puberty, Hepatitis, Abnormal faci... |
ORPHA:562 |
| Christianson Syndrome |
|
Mandibular prognathia, Cachexia, Microcephaly, Abnormality of the nose, Pectus excavatum, Aplasia... |
ORPHA:85278 |
| Mulibrey Nanism |
|
Frontal bossing, Wide nose, Hepatomegaly, Depressed nasal bridge, Dental crowding, Absent frontal... |
OMIM:253250 |
| Xp22.3 Microdeletion Syndrome |
|
Hypogonadotropic hypogonadism, Decreased fertility, Secondary amenorrhea, Polycystic ovaries |
ORPHA:1643 |
| Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Joint laxity, Wide nose, Diabetes mellitus, Microcephaly, Short neck, Low anterior hairline, Oste... |
OMIM:616033 |
| 19Q13.11 Microdeletion Syndrome |
|
Bifid scrotum, Recurrent respiratory infections, Congenital hip dislocation, Hypospadias, Cachexi... |
ORPHA:217346 |
| Fowler Urethral Sphincter Dysfunction Syndrome |
|
Polycystic ovaries, Menorrhagia, Oligomenorrhea, Abnormality of the ovary, Amenorrhea |
ORPHA:2795 |
| Cranioectodermal Dysplasia |
|
Frontal bossing, Anteverted nares, Abnormal dental enamel morphology, Craniosynostosis, Abnormali... |
ORPHA:1515 |
| Hajdu-Cheney Syndrome |
|
Osteopenia, Short neck, Micrognathia, Absent frontal sinuses, Synophrys, High palate, Premature l... |
OMIM:102500 |
| Flynn-Aird Syndrome |
|
Alopecia, Increased bone mineral density, Kyphoscoliosis, Joint stiffness, Carious teeth, Osteopo... |
OMIM:136300 |
| Rubinstein-Taybi Syndrome 1 |
|
Facial hypertrichosis, Dental crowding, Premature thelarche, Prominent nose, Bilateral cryptorchi... |
OMIM:180849 |
| Van Maldergem Syndrome 2 |
|
Bifid scrotum, Irregular dentition, Osteopenia, Tented upper lip vermilion, Short fourth metatars... |
OMIM:615546 |
| Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome |
|
Precocious puberty, Hypergonadotropic hypogonadism, Polycystic ovaries |
ORPHA:2229 |
| Premature Ovarian Failure 5 |
|
Streak ovary, Premature ovarian insufficiency, Secondary amenorrhea, Primary amenorrhea, Hypoplas... |
OMIM:611548 |
| Deafness-Intellectual Disability Syndrome, Martin-Probst Type |
|
Bifid scrotum, Hypoplasia of penis, Pancytopenia, Malar flattening, Microcephaly, Micrognathia, C... |
ORPHA:85321 |
| Rothmund-Thomson Syndrome, Type 1 |
|
Absent eyebrow, Premature ovarian insufficiency, Thin nail, Conical tooth, Absent eyelashes, Oste... |
OMIM:618625 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Mandibular prognathia, Hypoplasia of the maxilla, Elevated circulating thyroid-stimulating hormon... |
OMIM:101800 |
| Polycystic Ovary Syndrome 1 |
|
Enlarged polycystic ovaries, Oligomenorrhea, Amenorrhea |
OMIM:184700 |
| Intellectual Disability And Myopathy Syndrome |
|
Thin upper lip vermilion, Lumbar hyperlordosis, Congenital hip dislocation, Broad nasal tip, Achi... |
OMIM:619719 |
| Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Sparse scalp hair, Pancytopenia, Sparse eyelashes, Aplastic anemia, Hyperpigmentation of the skin... |
OMIM:224230 |
| Flynn-Aird Syndrome |
|
Alopecia, Cerebral calcification, Cachexia, Joint stiffness, Abnormality of the thyroid gland, Ky... |
ORPHA:2047 |
| Bloom Syndrome |
|
Prominent nose, Hypopigmentation of the skin, Hepatic steatosis, Cryptorchidism, Bronchiectasis, ... |
OMIM:210900 |
| Greig Cephalopolysyndactyly Syndrome |
|
Frontal bossing, Hypospadias, Delayed cranial suture closure, Craniosynostosis, Dolichocephaly, C... |
OMIM:175700 |
| Zimmermann-Laband Syndrome |
|
Short neck, Micrognathia, High palate, Absent fingernail, Bifid uvula, Hepatomegaly, Abnormal ext... |
ORPHA:3473 |
| Robinow Syndrome, Autosomal Dominant 2 |
|
Dental crowding, Micrognathia, Oligodontia, Micropenis, Calvarial osteosclerosis, Long philtrum, ... |
OMIM:616331 |
| Baraitser-Winter Syndrome 1 |
|
Short neck, Orofacial cleft, Micropenis, Pachygyria, Agenesis of corpus callosum, Anteverted nare... |
OMIM:243310 |
| Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Hypogonadotropic hypogonadism, Camptodactyly of finger, Micrognathia, Malar prominence, Kyphosis,... |
ORPHA:48431 |
| Microcephaly 17, Primary, Autosomal Recessive |
|
Bulbous nose, Low anterior hairline, Simplified gyral pattern, Microlissencephaly, Hypoplasia of ... |
OMIM:617090 |
| Fanconi Anemia, Complementation Group J |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:609054 |
| Fragile X Syndrome |
|
Macroorchidism, postpubertal, Mandibular prognathia, Joint laxity, Pectus excavatum, Folate-depen... |
OMIM:300624 |
| Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome |
|
Frontal bossing, Microcephaly, Osteoporosis, Joint hyperflexibility, Wormian bones, Short distal ... |
ORPHA:2787 |
| Schwartz-Jampel Syndrome |
|
Micromelia, Short neck, Micrognathia, Low anterior hairline, High palate, Wrist flexion contractu... |
ORPHA:800 |
| Silver-Russell Syndrome |
|
Abnormality of male external genitalia, Relative macrocephaly, Hypospadias, Failure to thrive in ... |
ORPHA:813 |
| Hamamy Syndrome |
|
Osteopenia, Microcytic anemia, Micrognathia, Brachycephaly, High palate, Sparse hair, Abnormal nu... |
OMIM:611174 |
| Acrootoocular Syndrome |
|
Delayed eruption of teeth, Short metacarpal, Small for gestational age, Decreased response to gro... |
ORPHA:2980 |
| Tetragametic Chimerism |
|
Bifid scrotum, True hermaphroditism, Ovotestis, Cryptorchidism, Perineal hypospadias, Abnormality... |
ORPHA:199310 |
| Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Alopecia, Cerebral calcification, Aplastic anemia, Pancytopenia, Microcephaly, Reticulated skin p... |
OMIM:613990 |
| Maternal Uniparental Disomy Of Chromosome X |
|
Hypopigmentation of the skin, Depressed nasal bridge, Camptodactyly of finger, Microcephaly, Shor... |
ORPHA:261519 |
| 46,Xx Ovotesticular Difference Of Sex Development |
|
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... |
ORPHA:2138 |
| Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatomegaly, Pancytopenia, Hypergonadotropic hypogonadism, Elevated circulating thyroid-stimulat... |
OMIM:617872 |
| Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Cachexia, Micrognathia, Abnormal hair morphology, Pectus excavatum, Joint stiffness, Flexion cont... |
ORPHA:1979 |
| Winchester Syndrome |
|
Arthropathy, Kyphosis, Gingival overgrowth, Osteolysis involving tarsal bones, Carpal osteolysis,... |
OMIM:277950 |
| Fanconi Anemia, Complementation Group D2 |
|
Reticulocytopenia, Aplasia of the 1st metacarpal, Abnormality of skin pigmentation, Neutropenia, ... |
OMIM:227646 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Mandibular prognathia, Pancytopenia, Extramedullary hematopoiesis, Osteomyelitis, Recurrent fract... |
OMIM:259710 |
| Ovarian Fibrothecoma |
|
Ovarian fibroma, Metrorrhagia, Abnormal endometrium morphology, Gonadal calcification, Abnormalit... |
ORPHA:314478 |
| Fanconi Anemia, Complementation Group C |
|
Flexion contracture, Anterior wedging of T12, Reticulocytopenia, Neutropenia, Cryptorchidism, Sho... |
OMIM:227645 |
| Nestor-Guillermo Progeria Syndrome |
|
Dental crowding, Limited elbow movement, Micrognathia, Flexion contracture, Rib osteolysis, Cavum... |
OMIM:614008 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Frontal bossing, Cloverleaf skull, Rhizomelia, Short neck, Micrognathia, Large fontanelles, Wide ... |
ORPHA:93267 |
| Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity |
|
Abnormality of chromosome stability, Pancytopenia, Microcephaly |
OMIM:600546 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 16 |
|
Frontal bossing, Prominent nasal bridge, Short 3rd toe, Cerebral atrophy, Short 2nd toe, Short 5t... |
OMIM:619060 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1 |
|
Osteopenia, Pancytopenia, Aplastic anemia, Mediastinal lymphadenopathy, Usual interstitial pneumo... |
OMIM:614742 |
| Cronkhite-Canada Syndrome |
|
Hepatomegaly, Alopecia, Generalized hyperpigmentation, Abnormal fingernail morphology, Cachexia, ... |
ORPHA:2930 |
| Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Kyphoscoliosis, Prominent nose, Microcephaly, Synophrys, Dental malocclusion |
OMIM:615541 |
| Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone |
|
Hypoglycemia |
OMIM:223500 |
| Hypogonadotropic Hypogonadism 19 With Or Without Anosmia |
|
Osteopenia, Hypogonadotropic hypogonadism, Osteoporosis, Abnormality of the dentition |
OMIM:615269 |
| Hemifacial Atrophy, Progressive |
|
Delayed eruption of teeth, Tongue atrophy, Poliosis, Kyphosis, Dental malocclusion, Patchy alopec... |
OMIM:141300 |
| Corpus Callosum, Agenesis Of |
|
Frontal bossing, Microcephaly, Macrocephaly, Joint contracture of the hand, Agenesis of corpus ca... |
OMIM:217990 |
| Trichorhinophalangeal Syndrome, Type I |
|
Osteopenia, Micrognathia, Deep philtrum, Osteoarthritis, Short metatarsal, Sparse hair, Microdont... |
OMIM:190350 |
| Degcags Syndrome |
|
Osteopenia, Prominent nose, Micrognathia, Synophrys, Low anterior hairline, Premature graying of ... |
OMIM:619488 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 7 |
|
Cerebellar vermis hypoplasia, Unilateral polymicrogyria, Microcephaly, Partial agenesis of the co... |
OMIM:610031 |
| Van Maldergem Syndrome 1 |
|
Osteopenia, Irregular dentition, Short fourth metatarsal, Tented upper lip vermilion, Micrognathi... |
OMIM:601390 |
| Tetrasomy 12P |
|
Delayed eruption of teeth, Frontal bossing, Thin upper lip vermilion, Anteverted nares, Cachexia,... |
ORPHA:884 |
| Marshall-Smith Syndrome |
|
Irregular dentition, Thoracic scoliosis, Brittle hair, Large sternal ossification centers, Bilate... |
OMIM:602535 |
| Cleidocranial Dysplasia |
|
Mandibular prognathia, Sinusitis, Micrognathia, High, narrow palate, Brachycephaly, Glossoptosis,... |
ORPHA:1452 |
| 6Q25 Microdeletion Syndrome |
|
External genital hypoplasia, Camptodactyly of finger, Microcephaly, Micrognathia, Wide nasal brid... |
ORPHA:251056 |
| Robinow Syndrome |
|
Small scrotum, Dental crowding, External genital hypoplasia, Micrognathia, Hemivertebrae, Orofaci... |
ORPHA:97360 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Delayed eruption of teeth, Frontal bossing, Osteopenia, Short metacarpal, Depressed nasal bridge,... |
OMIM:612350 |
| Auriculocondylar Syndrome 2A |
|
Dental crowding, Micrognathia, Narrow mouth, Temporomandibular joint ankylosis, Microglossia, Den... |
OMIM:614669 |
| Bangstad Syndrome |
|
Pancytopenia, Small for gestational age, Insulin-resistant diabetes mellitus, Primary gonadal ins... |
OMIM:210740 |
| Intermediate Osteopetrosis |
|
Back pain, Sandwich appearance of vertebral bodies, Osteomyelitis, Abnormal dental morphology, Re... |
ORPHA:210110 |
| Ataxia-Pancytopenia Syndrome |
|
Recurrent respiratory infections, Pancytopenia, Abnormal macrophage morphology, Abnormality of ne... |
ORPHA:2585 |
| Chromosome 13Q33-Q34 Deletion Syndrome |
|
Bifid scrotum, Irregular dentition, Tented upper lip vermilion, Micrognathia, Brachycephaly, High... |
OMIM:619148 |
| Oculodentodigital Dysplasia, Autosomal Recessive |
|
Dental crowding, Micrognathia, Long nose, Hypoplasia of the maxilla, Brachycephaly, Sparse hair, ... |
OMIM:257850 |
| Ruijs-Aalfs Syndrome |
|
Frontal bossing, Thoracic kyphoscoliosis, Prominent nasal bridge, Hepatocellular carcinoma, Pectu... |
OMIM:616200 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Abnormal number of granulocyte precursors, Neutropenia, Erythroid hyperplasia,... |
ORPHA:75564 |
| Fanconi Anemia, Complementation Group E |
|
Pancytopenia, Small for gestational age, Hypergonadotropic hypogonadism, Hyperpigmentation of the... |
OMIM:600901 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Leukopenia, Pulmonary artery atresia, Micropenis, Agenesis of corpus callosum, Hepatomegaly, Hypo... |
OMIM:301056 |
| Neu-Laxova Syndrome |
|
Osteopenia, Cerebral calcification, External genital hypoplasia, Micromelia, Micrognathia, Flexio... |
ORPHA:2671 |
| Noonan Syndrome 4 |
|
Curly hair, Pectus excavatum of inferior sternum, Depressed nasal bridge, Large for gestational a... |
OMIM:610733 |
| Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Encephalocele, Frontal bossing, Alopecia, Agenesis of cerebellar vermis, Small scrotum, Anteverte... |
ORPHA:228390 |
| Intellectual Disability-Strabismus Syndrome |
|
Decreased response to growth hormone stimulation test, Prominent nose, Short neck, Micrognathia, ... |
ORPHA:363528 |
| Fanconi Anemia, Complementation Group A |
|
Male infertility, Pancytopenia, Small for gestational age, Hypergonadotropic hypogonadism, Microc... |
OMIM:227650 |
| Imagawa-Matsumoto Syndrome |
|
Mandibular prognathia, Wide nasal ridge, Cryptorchidism, Melanocytic nevus, Macrocephaly, Umbilic... |
OMIM:618786 |
| Fragile X Syndrome |
|
Mandibular prognathia, Frontal bossing, Joint laxity, Sinusitis, Folate-dependent fragile site at... |
ORPHA:908 |
| Cerebellar-Facial-Dental Syndrome |
|
Short neck, Hypoplasia of the pons, Micrognathia, Hypoplasia of the brainstem, Sparse hair, Antev... |
ORPHA:444072 |
| Cornelia De Lange Syndrome 5 |
|
Short neck, Micrognathia, Synophrys, Low anterior hairline, Brachycephaly, Downturned corners of ... |
OMIM:300882 |
| Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Osteopenia, Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, High palate, Dislocated rad... |
OMIM:182212 |
| Florid Cemento-Osseous Dysplasia |
|
Abnormal trabecular bone morphology, Jaw swelling, Multiple bony cystic lesions, Mandibular osteo... |
ORPHA:83451 |
| Testicular Regression Syndrome |
|
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... |
ORPHA:983 |
| Harrod Syndrome |
|
Hypospadias, Microcephaly, Long nose, Cryptorchidism, Kyphosis, Dental malocclusion, Hypopigmente... |
ORPHA:2115 |
| Methylcobalamin Deficiency Type Cble |
|
Macrocytic anemia, Pancytopenia, Microcephaly, Osteoporosis, Megaloblastic bone marrow, Abnormal ... |
ORPHA:2169 |
| Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:601820 |
| Schwartz-Jampel Syndrome, Type 1 |
|
Congenital hip dislocation, Cervical kyphosis, Micromelia, Short neck, Micrognathia, Deep philtru... |
OMIM:255800 |
| Radio-Tartaglia Syndrome |
|
Dental crowding, Micrognathia, High, narrow palate, Synophrys, Low anterior hairline, High palate... |
OMIM:619312 |
| Ataxia-Telangiectasia |
|
Elevated hepatic transaminase, Lymphopenia, Hypopigmentation of hair, Diabetes mellitus, Recurren... |
ORPHA:100 |
| Hao-Fountain Syndrome |
|
Cryptorchidism, Large fontanelles, Trigonocephaly, Premature adrenarche, Micropenis, Delayed cran... |
OMIM:616863 |
| Macs Syndrome |
|
Irregular dentition, Micrognathia, Diffuse white matter abnormalities, High palate, Sparse hair, ... |
OMIM:613075 |
| Fructose And Galactose Intolerance |
|
Hypoglycemia |
OMIM:229500 |
| Apert Syndrome |
|
Mandibular prognathia, Limited elbow movement, Delayed epiphyseal ossification, Brachycephaly, Ch... |
OMIM:101200 |
| Intellectual Disability, Buenos-Aires Type |
|
Mandibular prognathia, Abnormal dental morphology, Abnormal fingernail morphology, Microcephaly, ... |
ORPHA:3079 |
| Muenke Syndrome |
|
Capitate-hamate fusion, Low anterior hairline, Brachycephaly, Dental malocclusion, Plagiocephaly,... |
OMIM:602849 |
| Fanconi Anemia, Complementation Group I |
|
Optic nerve hypoplasia, Absent septum pellucidum, Microcephaly, Decreased response to growth horm... |
OMIM:609053 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 1 |
|
Frontal polymicrogyria, Fusion of the caudate and putamen, Microcephaly, Cortical dysplasia, Simp... |
OMIM:614039 |
| Osteogenesis Imperfecta, Type Xii |
|
Delayed eruption of teeth, Hyperextensibility of the finger joints, Depressed nasal bridge, Recur... |
OMIM:613849 |
| Pierpont Syndrome |
|
Short neck, Brachycephaly, Widely spaced teeth, Short palm, Micropenis, Cryptorchidism, Short toe... |
OMIM:602342 |
| Microcephaly 5, Primary, Autosomal Recessive |
|
Flat occiput, Highly arched eyebrow, Microcephaly, Cortical dysplasia, Simplified gyral pattern, ... |
OMIM:608716 |
| Non-Distal Duplication 10Q |
|
Frontal bossing, Depressed nasal bridge, Microcephaly, Pectus excavatum, Cryptorchidism, Microgna... |
ORPHA:1695 |
| Neuropathy, Congenital Hypomyelinating, 3 |
|
Limb joint contracture, Cachexia, Micrognathia, Microcephaly, Flexion contracture, Gingival overg... |
OMIM:618186 |
| Fanconi Anemia, Complementation Group P |
|
Pancytopenia, Microcephaly, Micrognathia, Cryptorchidism, Bulbous nose, Chromosomal breakage indu... |
OMIM:613951 |
| Lissencephaly, X-Linked, 2 |
|
Thin upper lip vermilion, Prominent nasal bridge, Micrognathia, Long upper lip, Wide anterior fon... |
OMIM:300215 |
| Isolated Glycerol Kinase Deficiency |
|
Adrenocortical hypoplasia, Hyperlordosis, Cryptorchidism, Osteoporosis, Scoliosis |
ORPHA:408 |
| Beaulieu-Boycott-Innes Syndrome |
|
Premature ovarian insufficiency, Endometriosis, Microcephaly, Long nose, Micrognathia, Patent duc... |
OMIM:613680 |
| Cantu Syndrome |
|
Short hallux, Depressed nasal bridge, Anteverted nares, Curly eyelashes, Large for gestational ag... |
OMIM:239850 |
| 7Q11.23 Microduplication Syndrome |
|
Short lingual frenulum, Short neck, Micrognathia, Hemivertebrae, Simplified gyral pattern, Brachy... |
ORPHA:96121 |
| Robinow Syndrome, Autosomal Dominant 3 |
|
Short neck, Micrognathia, Downturned corners of mouth, Clitoral hypoplasia, Pulmonary artery atre... |
OMIM:616894 |
| Chromosome 16Q22 Deletion Syndrome |
|
Frontal bossing, Prominent metopic ridge, Depressed nasal bridge, Hypospadias, Small for gestatio... |
OMIM:614541 |
| Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies |
|
Anteverted nares, Absent septum pellucidum, Microcephaly, Prominent nose, Bulbous nose, Simplifie... |
OMIM:618492 |
| Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Premature ovarian insufficiency, Hypospadias, Endometriosis, Abnormality of the dentition, Long n... |
ORPHA:363444 |
| Agammaglobulinemia 8B, Autosomal Recessive |
|
Pancytopenia, Everted upper lip vermilion, Depressed nasal bridge, Splenomegaly, B Acute Lymphobl... |
OMIM:619824 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Osteopenia, Large for gestational age, Deep philtrum, Brachycephaly, Downturned corners of mouth,... |
OMIM:615398 |
| Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Delayed eruption of teeth, Small for gestational age, Microcephaly, Micrognathia, Low anterior ha... |
ORPHA:73272 |
| Leishmaniasis |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Abnorm... |
ORPHA:507 |
| Microcephalic Primordial Dwarfism, Montreal Type |
|
Abnormal hair quantity, Microcephaly, Micrognathia, Cryptorchidism, Kyphosis, Open bite, Carious ... |
ORPHA:2617 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Cerebellar vermis hypoplasia, Short neck, Micrognathia, Brachycephaly, Short palm, Micropenis, Ag... |
OMIM:620073 |
| Radial-Renal Syndrome |
|
Chromosome breakage |
OMIM:179280 |
| Maxillonasal Dysplasia, Binder Type |
|
Depressed nasal bridge, Vertebral clefting, Dental malocclusion, Short columella, Short nose, Pat... |
OMIM:155050 |
| Sim1-Related Prader-Willi-Like Syndrome |
|
Osteopenia, Small scrotum, External genital hypoplasia, Downturned corners of mouth, Clitoral hyp... |
ORPHA:398079 |
| Cerebrooculofacioskeletal Syndrome 3 |
|
Micrognathia, Microcephaly, Cleft palate, Cerebellar hypoplasia, Arthrogryposis multiplex congeni... |
OMIM:616570 |
| Urban-Rogers-Meyer Syndrome |
|
Hypoplasia of penis, Abnormality of the philtrum, Prominent nasal bridge, Recurrent fractures, Sh... |
ORPHA:3409 |
| Cri-Du-Chat Syndrome |
|
Microretrognathia, Short metacarpal, Small for gestational age, Hypospadias, Microcephaly, Short ... |
OMIM:123450 |
| Fanconi Anemia, Complementation Group F |
|
Sacral dimple, Hyperpigmentation of the skin, Decreased response to growth hormone stimulation te... |
OMIM:603467 |
| Desmosterolosis |
|
Micromelia, Micrognathia, Pachygyria, Agenesis of corpus callosum, Bifid uvula, Increased bone mi... |
ORPHA:35107 |
| Perrault Syndrome 6 |
|
Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Primary amenorrhea, Second... |
OMIM:617565 |
| Chondroectodermal Dysplasia With Night Blindness |
|
Osteopenia, Abnormality of the knee, Abnormal dental morphology, Micrognathia, Abnormal hair morp... |
ORPHA:319195 |
| Gaucher Disease Type 1 |
|
Osteopenia, Hepatomegaly, Pancytopenia, Increased bone mineral density, Hypersplenism, Kyphosis, ... |
ORPHA:77259 |
| Premature Aging Syndrome, Penttinen Type |
|
Aplasia of the nasal bone, Micrognathia, Hypoplasia of the maxilla, Hyperextensibility of the kne... |
OMIM:601812 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Elevated hepatic transaminase, Pancytopenia, Hepatocellular carcinoma, Th... |
ORPHA:158057 |
| Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Anteverted nares, Small for gestational age, Highly arched eyebrow, Microcephaly, Micrognathia, C... |
ORPHA:352490 |
| Lessel-Kreienkamp Syndrome |
|
Frontal bossing, Thin upper lip vermilion, Wide cranial sutures, Patent ductus arteriosus, Scapho... |
OMIM:619149 |
| Ventriculomegaly And Arthrogryposis |
|
Ulnar deviation of the wrist, Micrognathia, Cerebellar hypoplasia, Arthrogryposis multiplex conge... |
OMIM:619501 |
| Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Osteopenia, Generalized joint laxity, Male hypogonadism, Micropenis, Hypogonadotropic hypogonadis... |
ORPHA:432 |
| Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Depressed nasal bridge, Highly arched eyebrow, Microcephaly, Micrognathia, Patent ductus arterios... |
OMIM:618142 |
| Osteopathia Striata With Cranial Sclerosis |
|
Dental crowding, Micrognathia, Partial agenesis of the corpus callosum, Craniofacial osteoscleros... |
OMIM:300373 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Thoracic scoliosis, Microcephaly, Hypoplasia of the pons, Prominent nose, Partial agenesis of the... |
OMIM:616171 |
| Dyskeratosis Congenita |
|
Cerebral calcification, Abnormality of neutrophils, Hypoplasia of the maxilla, White hair, Premat... |
ORPHA:1775 |
| Lethal Osteosclerotic Bone Dysplasia |
|
Anteverted nares, Short neck, Microcephaly, Micrognathia, Depressed nasal ridge, Gingival fibroma... |
ORPHA:1832 |
| Cockayne Syndrome B |
|
Mandibular prognathia, Dry hair, Basal ganglia calcification, Ivory epiphyses of the phalanges of... |
OMIM:133540 |
| Turnpenny-Fry Syndrome |
|
Mandibular prognathia, Cerebellar vermis hypoplasia, Dental crowding, Brachycephaly, Downturned c... |
OMIM:618371 |
| Zimmermann-Laband Syndrome 3 |
|
Synophrys, Flexion contracture, Low anterior hairline, High palate, Bifid uvula, Aplasia of the d... |
OMIM:618658 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Extramedullary hematopoiesis, Micrognathia, Diffuse white matter abnormalities, Hepatomegaly, Inc... |
OMIM:259720 |
| Mulibrey Nanism |
|
Hepatomegaly, Wide nasal bridge, Cachexia, Macrocephaly |
ORPHA:2576 |
| Fetal Gaucher Disease |
|
Hepatomegaly, Pancytopenia, Depressed nasal bridge, Anteverted nares, Abnormality of the spleen, ... |
ORPHA:85212 |
| Autoinflammatory-Pancytopenia Syndrome |
|
Arthropathy, Pancytopenia, Hepatosplenomegaly, Cholestatic liver disease, Hepatic fibrosis, Hemop... |
OMIM:619858 |
| Immunodeficiency 109 With Lymphoproliferation |
|
Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Bronchiectasis, Recurrent sinusitis, Abs... |
OMIM:620282 |
| Emanuel Syndrome |
|
Multiple joint contractures, Dental crowding, Congenital hip dislocation, Micrognathia, High pala... |
ORPHA:96170 |
| Aggressive Systemic Mastocytosis |
|
Pancytopenia, Portal hypertension, Hypersplenism, Thrombocytopenia, Leukocytosis, Osteoporosis, O... |
ORPHA:98850 |
| Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatomegaly, Pancytopenia, Recurrent respiratory infections, Aplastic anemia, Splenomegaly, Hepa... |
OMIM:300635 |
| Potocki-Shaffer syndrome |
|
Abnormality of the male genitalia, Delayed cranial suture closure, Parietal foramina |
DECIPHER:34 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, 35 |
|
Mandibular prognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Denta... |
OMIM:300998 |
| Rothmund-Thomson Syndrome Type 2 |
|
Osteopenia, Joint dislocation, Aplastic anemia, Long nose, Patellar hypoplasia, High palate, Neut... |
ORPHA:221016 |
| Marden-Walker Syndrome |
|
Short neck, Micrognathia, High, narrow palate, Hypoplasia of the brainstem, Congenital contractur... |
OMIM:248700 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Ridged nail, Aplastic anemia, Hepatic necrosis, Premature graying of hair, Leukopenia, Sparse hai... |
OMIM:127550 |
| Craniosynostosis 6 |
|
Bicoronal synostosis, Turricephaly, Delayed cranial suture closure, Craniosynostosis, Microcephal... |
OMIM:616602 |
| Fanconi Anemia, Complementation Group D1 |
|
Acute myeloid leukemia, Microcephaly, Short thumb, Cafe-au-lait spot, T-cell acute lymphoblastic ... |
OMIM:605724 |
| Desbuquois Dysplasia 1 |
|
Joint dislocation, Short neck, Osteoarthritis, Short metatarsal, Genu varum, Microretrognathia, J... |
OMIM:251450 |
| Pierpont Syndrome |
|
Joint laxity, Thin upper lip vermilion, Small for gestational age, Wide nasal ridge, Abnormal cor... |
ORPHA:487825 |
| Ovarian Fibroma |
|
Gonadal calcification, Ovarian fibroma, Abnormality of the ovary |
ORPHA:314473 |
| Spondyloenchondrodysplasia |
|
Delayed eruption of teeth, Pancytopenia, Cerebral calcification, Autoimmune hemolytic anemia, Dec... |
ORPHA:1855 |
| Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Osteopenia, Flat occiput, Sparse facial hair, Decreased serum estradiol, Aplasia of the ovary, Ap... |
ORPHA:2232 |
| Lissencephaly Syndrome, Norman-Roberts Type |
|
Microretrognathia, Wide nose, Cerebral calcification, 4-layered lissencephaly, Dolichocephaly, Wi... |
ORPHA:89844 |
| Alpha-Mannosidosis, Infantile Form |
|
Mandibular prognathia, Osteopenia, Short neck, Brachycephaly, Cortical thickening of long bone di... |
ORPHA:309282 |
| Prader-Willi Syndrome |
|
Osteopenia, Small scrotum, External genital hypoplasia, Decreased response to growth hormone stim... |
OMIM:176270 |
| Spastic Paraplegia 18B, Autosomal Recessive |
|
Kyphosis, Ankle clonus, High palate, Scoliosis, Hypoplasia of the corpus callosum, Joint contracture |
OMIM:611225 |
| Intellectual Developmental Disorder, Autosomal Dominant 26 |
|
Depressed nasal bridge, Anteverted nares, Small for gestational age, Microcephaly, Highly arched ... |
OMIM:615834 |
| 19P13.3 Microduplication Syndrome |
|
Unilateral cryptorchidism, Kyphoscoliosis, Prominent nose, Precocious puberty, Microcephaly, Unde... |
ORPHA:447980 |
| Neonatal Lupus Erythematosus |
|
Elevated hepatic transaminase, Hemolytic anemia, Parakeratosis, Pancytopenia, Aplastic anemia, He... |
ORPHA:398124 |
| Au-Kline Syndrome |
|
Downturned corners of mouth, Vertebral segmentation defect, Oligodontia, High palate, Bifid uvula... |
OMIM:616580 |
| Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormal B cell count, Splenomegaly, Osteoporosis, Osteolysis, Weight loss, Lymphad... |
ORPHA:100024 |
| Amegakaryocytic Thrombocytopenia, Congenital, 1 |
|
Megakaryocytopenia, Amegakaryocytic thrombocytopenia, Pancytopenia, Cerebellar vermis hypoplasia,... |
OMIM:604498 |
| Trichothiodystrophy 9, Nonphotosensitive |
|
Joint laxity, Sparse eyebrow, High, narrow palate, Dental malocclusion, Nail dystrophy, Sparse ha... |
OMIM:619692 |
| Immunodeficiency 69 |
|
Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Failure to thrive, ... |
OMIM:618963 |
| Larsen-Like Syndrome |
|
Joint laxity, Frontal bossing, Joint dislocation, Kyphoscoliosis, Wide anterior fontanel, Dental ... |
OMIM:608545 |
| Frank-Ter Haar Syndrome |
|
Osteopenia, Flat occiput, Anterior concavity of thoracic vertebrae, Micrognathia, Brachycephaly, ... |
OMIM:249420 |
| Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities |
|
Recurrent respiratory infections, Microcephaly, Pectus excavatum, Abnormal globus pallidus morpho... |
OMIM:618603 |
| Lissencephaly 4 |
|
Simplified gyral pattern, Wide nasal bridge, Colpocephaly, Lissencephaly, Cerebellar hypoplasia, ... |
OMIM:614019 |
| Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Tented upper lip vermilion, Synophrys, Flexion contracture, Downturned corners of mouth, Short ph... |
ORPHA:487796 |
| Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Neonatal hypoglycemia, Hypoglycemia, Hypoinsulinemia, Fasting hypoglycemia |
OMIM:240900 |
| Primary Myelofibrosis |
|
Bone marrow hypercellularity, Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Cachexia,... |
ORPHA:824 |
| Bohring-Opitz Syndrome |
|
Joint dislocation, Micrognathia, Flexion contracture, Low anterior hairline, Hypoplasia of the br... |
OMIM:605039 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Osteopenia, Thin upper lip vermilion, 11 pairs of ribs, Anteverted nares, Dental crowding, Pectus... |
OMIM:617877 |
| Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum |
|
Short neck, Micrognathia, Partial agenesis of the corpus callosum, Synophrys, Thoracic kyphosis, ... |
OMIM:620250 |
| Microcephaly 10, Primary, Autosomal Recessive |
|
Small for gestational age, Choanal atresia, Reduced cerebral white matter volume, Prominent nasal... |
OMIM:615095 |
| Cockayne Syndrome A |
|
Mandibular prognathia, Dry hair, Prominent nose, Basal ganglia calcification, Ivory epiphyses of ... |
OMIM:216400 |
| Rothmund-Thomson Syndrome |
|
Osteopenia, Aplastic anemia, Selective tooth agenesis, Reduced bone mineral density, Neutropenia,... |
ORPHA:2909 |
| Premature Ovarian Failure 10 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... |
OMIM:612885 |
| Multiple Pterygium Syndrome, Escobar Variant |
|
Multiple joint contractures, Short neck, Micrognathia, Flexion contracture, Knee flexion contract... |
OMIM:265000 |
| Craniofrontonasal Dysplasia |
|
Depressed nasal ridge, Brachycephaly, Orofacial cleft, High palate, Hypospadias, Wide nasal bridg... |
ORPHA:1520 |
| Momo Syndrome |
|
Delayed eruption of teeth, Frontal bossing, Hyperconvex nail, Large for gestational age, Abnormal... |
ORPHA:2563 |
| Transcobalamin Deficiency |
|
Pancytopenia, Abnormality of chromosome stability, Megaloblastic bone marrow, Neutropenia, Lympho... |
ORPHA:859 |
| Three M Syndrome 2 |
|
Relative macrocephaly, Frontal bossing, Delayed eruption of teeth, Lumbar hyperlordosis, Depresse... |
OMIM:612921 |
| Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Tented upper lip vermilion, Prominent nose, Low anterior hairline, Simplified gyral pattern, Brac... |
OMIM:619244 |
| Rothmund-Thomson Syndrome, Type 2 |
|
Mandibular prognathia, Congenital hip dislocation, Micrognathia, Premature graying of hair, High ... |
OMIM:268400 |
| Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Delayed eruption of teeth, Abnormality of the philtrum, Camptodactyly of finger, Micrognathia, Cr... |
ORPHA:2863 |
| Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Elevated hepatic transaminase, Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Cac... |
ORPHA:298 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Pancytopenia, Hepatomegaly, Recurrent respiratory infections, Autoimmune thromb... |
OMIM:614470 |
| Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Micrognathia, Brachycephaly, Abnormal septum pellucidum morphology, Short palm, Micropenis, Hypos... |
ORPHA:171839 |
| Prader-Willi Syndrome |
|
Osteopenia, Small scrotum, External genital hypoplasia, Decreased response to growth hormone stim... |
ORPHA:739 |
| Pseudohypoparathyroidism, Type Ia |
|
Thickened calvaria, Delayed eruption of teeth, Short metacarpal, Depressed nasal bridge, Short ne... |
OMIM:103580 |
| Hemochromatosis, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Alopecia, Diabetes mellitus, Hypogonadotropic hypogo... |
OMIM:235200 |
| Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Bicoronal synostosis, Flat occiput, Optic nerve hypoplasia, Delayed closure of the anterior fonta... |
OMIM:618736 |
| Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Short neck, Micrognathia, Brachycephaly, Downturned corners of mouth, Thoracic kyphosis, High pal... |
ORPHA:163649 |
| Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Dental crowding, Micrognathia, Cr... |
OMIM:615381 |
| Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Thrombocytopenia, Acute myelomonocytic leukemia, Ankle clonus, Abnormal cerebral wh... |
OMIM:159550 |
| Cofs Syndrome |
|
Abnormality of retinal pigmentation, Prominent metopic ridge, Cerebral calcification, Camptodacty... |
ORPHA:1466 |
| Fanconi Anemia, Complementation Group B |
|
Abnormality of chromosome stability, Hypergonadotropic hypogonadism, Aplastic anemia, Short neck,... |
OMIM:300514 |
| 4Q21 Microdeletion Syndrome |
|
Short palm, Frontal bossing, Depressed nasal bridge, Micromelia, Short neck, Abnormality of the d... |
ORPHA:238750 |
| Satoyoshi Syndrome |
|
Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of the uterus, Abnormality of the ... |
ORPHA:3130 |
| Bryant-Li-Bhoj Neurodevelopmental Syndrome 1 |
|
Mandibular prognathia, Cerebellar vermis hypoplasia, Tented upper lip vermilion, Micrognathia, De... |
OMIM:619720 |
| Werner Syndrome |
|
Abnormal hair whorl, Premature graying of hair, Thyroid carcinoma, Increased bone mineral density... |
ORPHA:902 |
| Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion |
OMIM:183350 |
| Lissencephaly 3 |
|
Cerebellar vermis hypoplasia, Agyria, Microcephaly, Hypoplasia of the brainstem, Lissencephaly, H... |
OMIM:611603 |
| Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Osteopenia, Small scrotum, External genital hypoplasia, Decreased response to growth hormone stim... |
ORPHA:98754 |
| Ck Syndrome |
|
Dental crowding, Prominent nasal bridge, Microcephaly, Hyperlordosis, Kyphosis, Micrognathia, Ret... |
OMIM:300831 |
| Corpus Callosum Agenesis-Abnormal Genitalia Syndrome |
|
Hypospadias, Abnormal hair pattern, Microcephaly, Generalized hirsutism, Scoliosis, Agenesis of c... |
ORPHA:2508 |
| Diencephalic Syndrome |
|
Cachexia, Long penis, Everted lower lip vermilion, Decreased body weight, Abnormality of the hypo... |
ORPHA:1672 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Cerebral calcification, Micrognathia, Basal ganglia calcification, Brachycephaly, Leukopenia, Hig... |
ORPHA:2785 |
| Chromosome 3Pter-P25 Deletion Syndrome |
|
Flat occiput, Micrognathia, Synophrys, Brachycephaly, Downturned corners of mouth, High palate, P... |
OMIM:613792 |
| Borjeson-Forssman-Lehmann Syndrome |
|
Shortening of all middle phalanges of the fingers, Microcephaly, Cryptorchidism, Kyphosis, Short ... |
OMIM:301900 |
| Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Relative macrocephaly, Frontal bossing, Pancytopenia, Acute hepatic failure, Failure to thrive in... |
ORPHA:228426 |
| Propionic Acidemia |
|
Hepatomegaly, Pancytopenia, Thrombocytopenia, Osteoporosis, Cerebral atrophy, Neutropenia, Failur... |
OMIM:606054 |
| Neurodevelopmental Disorder With Epilepsy And Brain Atrophy |
|
Mandibular prognathia, Cortical dysplasia, Osteoporosis, Cerebellar hypoplasia, Recurrent aspirat... |
OMIM:619971 |
| Proteus Syndrome |
|
Central heterochromia, Neoplasm of the thymus, Abnormal lung lobation, Abnormal form of the verte... |
ORPHA:744 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Osteopenia, Small scrotum, External genital hypoplasia, Decreased response to growth hormone stim... |
ORPHA:177901 |
| Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Delayed eruption of teeth, Hyperextensibility of the finger joints, Congenital hip dislocation, D... |
OMIM:619797 |
| Perrault Syndrome 2 |
|
Streak ovary, Amenorrhea |
OMIM:614926 |
| Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia |
|
Relative macrocephaly, Mandibular prognathia, Anteverted nares, Dental malocclusion, High palate |
OMIM:618292 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Impaired gluconeogenesis, Hypoglycemia |
OMIM:261650 |
| Chromosome 3Q13.31 Deletion Syndrome |
|
Dolichocephaly, Cryptorchidism, Kyphosis, Brachycephaly, Plagiocephaly, High palate, Short philtr... |
OMIM:615433 |
| Rothmund-Thomson Syndrome Type 1 |
|
Osteopenia, Aplastic anemia, Patellar hypoplasia, Neutropenia, Sparse hair, Microdontia, Hypopigm... |
ORPHA:221008 |
| Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Hypopigmentation of hair, Albinism, Kyphosis, Osteoporosis, Platyspondyly, Hypopigmentation of th... |
ORPHA:2786 |
| Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Osteopenia, Small scrotum, External genital hypoplasia, Decreased response to growth hormone stim... |
ORPHA:98793 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatomegaly, Pancytopenia, Recurrent respiratory infections, Aplastic anemia, Recurrent pharyngi... |
OMIM:308240 |
| Multicentric Reticulohistiocytosis |
|
Arthritis, Cachexia, Histiocytosis |
ORPHA:139436 |
| Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Cachexia, Spinal rigidity, Hyperlordosis, Flexion contracture, Limitation of joint mobility, Join... |
ORPHA:157973 |
| Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Osteopenia, Micrognathia, Hypoplasia of the maxilla, Brachycephaly, Metatarsal osteolysis, Campto... |
OMIM:259600 |
| Usmani-Riazuddin Syndrome, Autosomal Recessive |
|
Joint laxity, Pectus excavatum, High palate, Lumbar scoliosis, Agenesis of corpus callosum |
OMIM:619548 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Osteopenia, Small scrotum, External genital hypoplasia, Decreased response to growth hormone stim... |
ORPHA:177904 |
| Congenital Bile Acid Synthesis Defect Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, O... |
ORPHA:79301 |
| Chromosome 5P13 Duplication Syndrome |
|
Frontal bossing, Turricephaly, Small for gestational age, Craniosynostosis, Bulbous nose, Wide na... |
OMIM:613174 |
| Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
Depressed nasal bridge, Hypogonadotropic hypogonadism, Microcephaly, Hyperlordosis, Cryptorchidis... |
ORPHA:1387 |
| Magel2-Related Prader-Willi-Like Syndrome |
|
Osteopenia, Small scrotum, External genital hypoplasia, Flexion contracture, Increased body weigh... |
ORPHA:398069 |
| Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Hepatomegaly, Kyphosis, Osteoporosis, Pigmentary retinopathy, Macrovesicular hepatic steatosis, S... |
OMIM:618234 |
| Alexander Disease Type I |
|
Cachexia, Progressive macrocephaly, Abnormal cerebral white matter morphology, Scoliosis, Focal T... |
ORPHA:363717 |
| X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Recurrent respiratory infections, Small for gestational age, Depressed nasal bridge, Kyphosis, Co... |
ORPHA:85288 |
| Gaucher Disease, Type Iii |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Decreased body weight, Thrombocytopenia |
OMIM:231000 |
| Sotos Syndrome |
|
Mandibular prognathia, High, narrow palate, Partial agenesis of the corpus callosum, Increased bo... |
OMIM:117550 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Osteopenia, Short neck, Micrognathia, Multiple prenatal fractures, Flexion contracture, Brachycep... |
OMIM:616897 |
| Premature Ovarian Failure 6 |
|
Premature ovarian insufficiency, Streak ovary, Elevated circulating luteinizing hormone level, Fe... |
OMIM:612310 |
| Ovarian Dysgenesis 3 |
|
Female infertility, Elevated circulating luteinizing hormone level, Primary amenorrhea, Elevated ... |
OMIM:614324 |
| Lissencephaly, X-Linked, 1 |
|
Lissencephaly, Micropenis, Pachygyria, Agenesis of corpus callosum, Agyria |
OMIM:300067 |
| Martin-Probst Syndrome |
|
Bifid scrotum, Pancytopenia, Malar flattening, Microcephaly, Micrognathia, Cryptorchidism, Thick ... |
OMIM:300519 |
| Phelan-Mcdermid Syndrome |
|
Sacral dimple, Joint hypermobility, Microcephaly, Dolichocephaly, Micrognathia, Bulbous nose, Pat... |
OMIM:606232 |
| Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Anisocytosis, Malar prominence, Hepatic fibrosis, Hypothyroidism, H... |
ORPHA:231226 |
| Premature Ovarian Failure 9 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Hypoplasia of th... |
OMIM:615724 |
| Cleft Palate, Isolated |
|
Micrognathia, Gingival overgrowth, Cleft palate, Anterior open-bite malocclusion, Increased overbite |
OMIM:119540 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Osteopenia, High, narrow palate, Downturned corners of mouth, Vertebral segmentation defect, Hypo... |
ORPHA:453504 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Osteopenia, High, narrow palate, Downturned corners of mouth, Vertebral segmentation defect, Hypo... |
ORPHA:352665 |
| Dyskeratosis Congenita, X-Linked |
|
Ridged nail, Reticulated skin pigmentation, Pterygium of nails, Premature graying of hair, Leukop... |
OMIM:305000 |
| Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
T lymphocytopenia, Recurrent aspiration pneumonia, Hepatomegaly, Portal hypertension, Hepatosplen... |
ORPHA:79124 |
| Odontochondrodysplasia 1 |
|
Relative macrocephaly, Delayed eruption of teeth, Biconvex vertebral bodies, Recurrent respirator... |
OMIM:184260 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Chronic neutropenia, Thrombocytopenia, Partial agenesis of the corpus callosum, Simplified gyral ... |
OMIM:619302 |
| Riboflavin Transporter Deficiency |
|
Cachexia, Hypogonadism, Diabetes insipidus, Cerebral cortical atrophy, Iris hypopigmentation |
ORPHA:97229 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Dental crowding, Short neck, High... |
OMIM:309583 |
| Coffin-Lowry Syndrome |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Thick nasal septum, Hyperconvex f... |
OMIM:303600 |
| Sialidosis Type 2 |
|
Hepatomegaly, Splenomegaly, Kyphosis, Flexion contracture, Osteoporosis, Abnormal bone marrow cel... |
ORPHA:87876 |
| Immunodeficiency 16 |
|
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia |
OMIM:615593 |
| Cutis Laxa, Autosomal Recessive, Type Iib |
|
Osteopenia, Frontal bossing, Congenital hip dislocation, Narrow nasal ridge, Microcephaly, Pectus... |
OMIM:612940 |
| Fryns-Smeets-Thiry Syndrome |
|
Narrow nasal bridge, Prominent nasal bridge, Cachexia, Microcephaly, Micrognathia, Thick lower li... |
ORPHA:2058 |
| Autoinflammation With Infantile Enterocolitis |
|
Pancytopenia, Diffuse alveolar hemorrhage, Splenomegaly, Anemia, Failure to thrive, Reduced natur... |
OMIM:616050 |
| Shwachman-Diamond Syndrome |
|
Normocytic anemia, Osteopenia, Transient neutropenia, Aplastic anemia, Decreased response to grow... |
ORPHA:811 |
| Primary Condylar Hyperplasia |
|
Anterior open-bite malocclusion, Abnormality of the temporomandibular joint, Macrodontia, Abnorma... |
ORPHA:477781 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Generalized lymphadenopathy, Hypothyroidism, Autoimmune thrombocytopenia, Bronchiectasis, Lymphad... |
OMIM:614700 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Elevated hepatic transaminase, Prominence of the premaxilla, Delayed closure of the anterior font... |
OMIM:614886 |
| Premature Ovarian Failure 18 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr... |
OMIM:619203 |
| Even-Plus Syndrome |
|
Highly arched eyebrow, Short neck, Bifid nasal tip, Dysplastic corpus callosum, Synophrys, Verteb... |
OMIM:616854 |
| Ring Chromosome 10 Syndrome |
|
Frontal bossing, Cachexia, Short neck, Pectus excavatum, Micrognathia, Wide nasal bridge, Thin ve... |
ORPHA:1438 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 2 |
|
Pancytopenia, Aplastic anemia, Premature graying of hair, Bone marrow hypocellularity, Leukemia, ... |
OMIM:614743 |
| Griscelli Syndrome Type 2 |
|
Hepatomegaly, Hypopigmentation of hair, Pancytopenia, Partial albinism, Splenomegaly, Jaundice, L... |
ORPHA:79477 |
| Recombinant Chromosome 8 Syndrome |
|
Thin upper lip vermilion, Anteverted nares, Depressed nasal bridge, Micrognathia, Pectus excavatu... |
OMIM:179613 |
| Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Camptodactyly of finger, Cachexia, Micrognathia, Wrist swelling, Limitation of joint mobility, Os... |
ORPHA:2774 |
| Fanconi Anemia, Complementation Group T |
|
Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Chromosomal breakage induced by crosslink... |
OMIM:616435 |
| Intellectual Developmental Disorder, Autosomal Dominant 65 |
|
Short palm, Thick upper lip vermilion, Turricephaly, Tented upper lip vermilion, Anteverted nares... |
OMIM:619320 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Arthropathy, Stiff interphalangeal joints, Hypothyroidism, Generalized bronze hyperpigmentation, ... |
ORPHA:465508 |
| Premature Ovarian Failure 2B |
|
Premature ovarian insufficiency, Female infertility, Abnormality of the dentition, Osteoporosis, ... |
OMIM:300604 |
| Desmoplastic Small Round Cell Tumor |
|
Neoplasm of the pancreas, Hepatomegaly, Abnormal peritoneum morphology, Cachexia, Testicular neop... |
ORPHA:83469 |
| Short Syndrome |
|
Delayed eruption of teeth, Frontal bossing, Joint laxity, Small for gestational age, Underdevelop... |
OMIM:269880 |
| Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Osteopenia, Hepatocellular carcinoma, Osteoporosis, ... |
ORPHA:369 |
| Desmosterolosis |
|
Micrognathia, Generalized osteosclerosis, Partial agenesis of the corpus callosum, Ambiguous geni... |
OMIM:602398 |
| Frontometaphyseal Dysplasia 1 |
|
Selective tooth agenesis, Limited elbow movement, Absent frontal sinuses, Knee flexion contractur... |
OMIM:305620 |
| Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Rhizomelia, Agenesis of corpus callosum, Thrombocytopenia |
OMIM:166990 |
| Fanconi Anemia, Complementation Group O |
|
Chromosome breakage, External genital hypoplasia, Absent thumb, Cryptorchidism, Short thumb, Hypo... |
OMIM:613390 |
| Aminopterin Syndrome Sine Aminopterin |
|
Frontal bossing, Thoracic scoliosis, Highly arched eyebrow, Microcephaly, Megalencephaly, Cryptor... |
OMIM:600325 |
| Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies |
|
Mandibular prognathia, Frontal bossing, Thin upper lip vermilion, Microcephaly, Sparse eyebrow, S... |
OMIM:619989 |
| Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome |
|
Bone spicule pigmentation of the retina, Underdeveloped nasal alae, Dental malocclusion, Widely s... |
OMIM:616108 |
| Smith-Kingsmore Syndrome |
|
Reduced cerebral white matter volume, Large for gestational age, Long philtrum, Depressed nasal b... |
OMIM:616638 |
| Osteogenesis Imperfecta, Type Xiii |
|
Increased bone mineral density, Recurrent fractures, Kyphoscoliosis, Dentinogenesis imperfecta, O... |
OMIM:614856 |
| Nijmegen Breakage Syndrome |
|
Prominent nose, Short neck, Deep philtrum, Low anterior hairline, Hemolytic anemia, Depressed nas... |
ORPHA:647 |
| Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Pancytopenia, Cerebral calcification, Reticulated skin pigmentation, Bone marrow hypocellularity,... |
OMIM:613987 |
| Fetal Akinesia Deformation Sequence 4 |
|
11 pairs of ribs, Micrognathia, Short neck, Cryptorchidism, Kyphosis, Wide nasal bridge, High pal... |
OMIM:618393 |
| Osteogenesis Imperfecta |
|
Osteopenia, Abnormality of dental color, Cervical kyphosis, Micromelia, Micrognathia, Osteoarthri... |
ORPHA:666 |
| N Syndrome |
|
Abnormality of chromosome stability |
OMIM:310465 |
| Braddock-Carey Syndrome 1 |
|
Curly hair, Anteverted nares, Microcephaly, Hyperlordosis, Pierre-Robin sequence, Small hand, Wid... |
OMIM:619980 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Anterior pituitary hypoplasia, Mi... |
OMIM:151050 |
| Hatipoglu Immunodeficiency Syndrome |
|
Failure to thrive, Pancytopenia, Hypospadias, Recurrent bronchitis, Hyperpigmented/hypopigmented ... |
OMIM:620331 |
| Clark-Baraitser syndrome |
|
Short palm, Frontal bossing, Exaggerated median tongue furrow, Joint laxity, Anteverted nares, Ge... |
OMIM:300602 |
| Trichothiodystrophy |
|
Ridged nail, Osteopenia, Joint dislocation, Brittle hair, Multiple joint contractures, High, narr... |
ORPHA:33364 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Osteopenia, Cerebral calcification, Small scrotum, Reduced bone mineral density, High palate, Emp... |
OMIM:613658 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 2 |
|
Osteopenia, Pancytopenia, Portal hypertension, Premature graying of hair, Hepatic fibrosis, Bone ... |
OMIM:617341 |
| Mucopolysaccharidosis, Type Iva |
|
Mandibular prognathia, Short neck, Widely spaced teeth, Anterior beaking of lumbar vertebrae, Joi... |
OMIM:253000 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Hepatomegaly, Hypoglycemia |
OMIM:615158 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Small for gestational age, Microcephaly, Partial agenesis of the corpus callosum, Cerebellar glio... |
ORPHA:79243 |
| Trisomy 18 |
|
Microretrognathia, Abnormality of retinal pigmentation, Choanal atresia, Cachexia, Microcephaly, ... |
ORPHA:3380 |
| Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Thin upper lip vermilion, Sacral dimple, Anteverted nares, Hypospadias, Depressed nasal bridge, H... |
OMIM:615761 |
| Beta-Thalassemia Major |
|
Extramedullary hematopoiesis, Malar prominence, Hepatic fibrosis, Hypothyroidism, Hyperplasia of ... |
ORPHA:231214 |
| Kabuki Syndrome 2 |
|
Joint laxity, Natal tooth, Highly arched eyebrow, Broad nasal tip, Microcephaly, Micrognathia, Lo... |
OMIM:300867 |
| Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Secondary amenorrhea, Abnormal spermatogenesis, Azoospermia, Ovari... |
OMIM:228300 |
| Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Cardiomegaly |
OMIM:604765 |
| Shashi-Pena Syndrome |
|
Thin upper lip vermilion, Short metacarpal, Highly arched eyebrow, Broad nasal tip, Reduced cereb... |
OMIM:617190 |
| Wolf-Hirschhorn Syndrome |
|
Micrognathia, Abnormal form of the vertebral bodies, Downturned corners of mouth, Short philtrum,... |
ORPHA:280 |
| Acrodysostosis 2 With Or Without Hormone Resistance |
|
Mandibular prognathia, Short metacarpal, Diabetes mellitus, Anteverted nares, Hypospadias, Depres... |
OMIM:614613 |
| Myopathy, Myofibrillar, 8 |
|
Micrognathia, Pectus excavatum, Spinal rigidity, Distal joint laxity, Achilles tendon contracture... |
OMIM:617258 |
| Lissencephaly 7 With Cerebellar Hypoplasia |
|
Microcephaly, Short neck, Micrognathia, Low anterior hairline, Downturned corners of mouth, Lisse... |
OMIM:616342 |
| Craniofrontonasal Syndrome |
|
Ridged nail, Short neck, Brachycephaly, Agenesis of corpus callosum, Split nail, Joint laxity, Hy... |
OMIM:304110 |
| Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Mandibular prognathia, Congenital hip dislocation, Micrognathia, Hypoplasia of the pons, Partial ... |
OMIM:619512 |
| Ritscher-Schinzel Syndrome 4 |
|
Curly hair, Joint hypermobility, Cryptorchidism, Premature anterior fontanel closure, Hip disloca... |
OMIM:619435 |
| Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Short lingual frenulum, Downturned corners of mouth, Short philtrum, Microdontia, Spina bifida oc... |
OMIM:617360 |
| Chromosome 14Q11-Q22 Deletion Syndrome |
|
Anterior pituitary hypoplasia, Micrognathia, Bilateral cryptorchidism, Elevated circulating thyro... |
OMIM:613457 |
| Frontonasal Dysplasia 1 |
|
Pericallosal lipoma, Median cleft lip, Broad nasal tip, Bifid nasal tip, Hypoplasia of the maxill... |
OMIM:136760 |
| Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Absence of lymph node g... |
OMIM:619924 |
| Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Abnormal cerebral white matter morphology, Slender build, Cachexia, Weight loss |
OMIM:613662 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Mandibular prognathia, Cortical dysplasia, Simplified gyral pattern, Micropenis, Joint laxity, Hy... |
OMIM:300354 |
| Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Pancytopenia, Microcytic anemia, Elbow flexion contracture, Hepatosplenomegaly, Knee flexion cont... |
OMIM:604416 |
| Momo Syndrome |
|
Delayed eruption of teeth, Frontal bossing, Hyperconvex nail, Short neck, Thick lower lip vermili... |
OMIM:157980 |
| 46,Xx Gonadal Dysgenesis |
|
Osteopenia, Streak ovary, Premature ovarian insufficiency, Microcephaly, Sparse pubic hair, Incre... |
ORPHA:243 |
| Pseudopseudohypoparathyroidism |
|
Delayed eruption of teeth, Short metacarpal, Depressed nasal bridge, Short neck, Osteoporosis, Ob... |
OMIM:612463 |
| Hogue-Janssen Syndrome 2 |
|
Prominent metopic ridge, Tented upper lip vermilion, Anteverted nares, Microcephaly, Pectus excav... |
OMIM:616362 |
| Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Polymicrogyria, Agenesis of corpus callosum, Cerebellar hypoplasia, Primary microcephaly |
ORPHA:171703 |
| Pontocerebellar Hypoplasia, Type 2E |
|
Wide nose, Microcephaly, Micrognathia, Flexion contracture, Osteoporosis, Cerebral atrophy, Secon... |
OMIM:615851 |
| Pontocerebellar Hypoplasia, Type 14 |
|
Chronic neutropenia, Hypoplasia of the pons, Simplified gyral pattern, Hypoplasia of the brainste... |
OMIM:619301 |
| Congenital Myopathy 22A, Classic |
|
Frontal bossing, Thoracic scoliosis, Hip contracture, Dental crowding, Spinal rigidity, Pectus ex... |
OMIM:620351 |
| Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Mandibular prognathia, Thin upper lip vermilion, Thick hair, Kyphosis, Synophrys, Low posterior h... |
ORPHA:2429 |
| Fanconi Anemia, Complementation Group L |
|
Chromosome breakage, Hypoplastic sacrum, Short neck, Micrognathia, Chromosomal breakage induced b... |
OMIM:614083 |
| Acute Promyelocytic Leukemia |
|
Bone marrow hypercellularity, Pancytopenia, Metrorrhagia, Epistaxis, Diffuse alveolar hemorrhage,... |
ORPHA:520 |
| Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Short neck, Microcephaly, Cryptorchidism, Kyphosis, Micrognathia, Cerebral atrophy, High palate, ... |
OMIM:611890 |
| Mosaic Variegated Aneuploidy Syndrome 1 |
|
Bifid scrotum, Hypodysplasia of the corpus callosum, Short neck, Micrognathia, Brachycephaly, Mic... |
OMIM:257300 |
| Opitz Gbbb Syndrome |
|
Bifid scrotum, Micrognathia, Vertebral segmentation defect, High palate, Agenesis of corpus callo... |
ORPHA:2745 |
| Lymphoproliferative Syndrome 2 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Recurrent pneumonia, Oral ulcer, Hepat... |
OMIM:615122 |
| Epilepsy, Progressive Myoclonic, 9 |
|
Short thumb, Simplified gyral pattern, Scoliosis, Microglossia, Agenesis of corpus callosum |
OMIM:616540 |
| Potocki-Shaffer Syndrome |
|
Prominent nasal bridge, Underdeveloped nasal alae, Broad nasal tip, Parietal foramina, Micrognath... |
ORPHA:52022 |
| Developmental And Epileptic Encephalopathy 88 |
|
Depressed nasal bridge, Hypoplasia of the pons, Partial agenesis of the corpus callosum, Everted ... |
OMIM:618959 |
| Myopathy, Centronuclear, X-Linked |
|
Elevated hepatic transaminase, Cryptorchidism, Flexion contracture, Dental malocclusion, Macrocep... |
OMIM:310400 |
| Hypergonadotropic Hypogonadism-Cataract Syndrome |
|
Hypergonadotropic hypogonadism, Recurrent fractures, Increased circulating gonadotropin level, Ab... |
ORPHA:2410 |
| Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome |
|
Micrognathia, Diastema, Short neck, Underdeveloped nasal alae, Dental malocclusion, Malar flatten... |
ORPHA:436245 |
| Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Hepatomegaly, Pancytopenia, Megaloblastic anemia, Jaundice, Cerebral atrophy, Increased mean corp... |
OMIM:613839 |
| Masa Syndrome |
|
Hyperlordosis, Microcephaly, Kyphosis, Macrocephaly, Agenesis of corpus callosum |
OMIM:303350 |
| Majeed Syndrome |
|
Hepatomegaly, Increased bone mineral density, Osteomyelitis, Cachexia, Congenital hypoplastic ane... |
ORPHA:77297 |
| Gm1 Gangliosidosis |
|
Mandibular prognathia, Depressed nasal ridge, Abnormal form of the vertebral bodies, Encephalomal... |
ORPHA:354 |
| Tbck-Related Intellectual Disability Syndrome |
|
Mandibular prognathia, Tented upper lip vermilion, Decreased response to growth hormone stimulati... |
ORPHA:488632 |
| Dysostosis, Stanescu Type |
|
Persistent open anterior fontanelle, Cerebral calcification, Micromelia, Short neck, Hypoplasia o... |
ORPHA:1798 |
| Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Mandibular prognathia, Abnormality of the dentition, Kyphosis, Dental malocclusion, Scoliosis, Sh... |
ORPHA:1858 |
| Premature Ovarian Failure 8 |
|
Premature ovarian insufficiency, Streak ovary, Elevated circulating luteinizing hormone level, Pr... |
OMIM:615723 |
| Sub-Cortical Nodular Heterotopia |
|
Abnormal basal ganglia morphology, Hypoplasia of the corpus callosum, Abnormal cerebral cortex mo... |
ORPHA:101029 |
| Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Narrow nasal bridge, Mandibular prognathia, Flat occiput, Hyperlordosis, Microcephaly, Pectus exc... |
ORPHA:2511 |
| Pseudohypoparathyroidism, Type Ic |
|
Delayed eruption of teeth, Short metacarpal, Depressed nasal bridge, Short neck, Basal ganglia ca... |
OMIM:612462 |
| Coffin-Siris Syndrome |
|
Low anterior hairline, Simplified gyral pattern, Papillary thyroid carcinoma, Aspiration pneumoni... |
ORPHA:1465 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 12 |
|
Prominent metopic ridge, Exaggerated cupid's bow, Cryptorchidism, Dysgenesis of the basal ganglia... |
OMIM:620316 |
| Müllerian Aplasia And Hyperandrogenism |
|
Hypoplasia of the uterus, Abnormal vagina morphology, Abnormality of the ovary, Primary amenorrhea |
ORPHA:247768 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Depressed nasal bridge, Microcephaly, Kyphosis, Small hand, Hip dislocation, Short foot, Scoliosi... |
OMIM:300434 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Frontal bossing, Anteverted nares, Small for gestational age, Microcephaly, Flared nostrils, Wide... |
OMIM:312170 |
| Craniofacial Dyssynostosis With Short Stature |
|
Frontal bossing, Hypospadias, Cryptorchidism, Patent ductus arteriosus, Brachycephaly, Hypoplasia... |
OMIM:218350 |
| Mitochondrial Myopathy And Sideroblastic Anemia |
|
Microcephaly, Micrognathia, Kyphosis, High palate, Scoliosis, Delayed puberty, Short nose, Distic... |
ORPHA:2598 |
| Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Hypopigmentation of hair, Generalized hyperpigmentation, Anteverted nares, Hypospadias, Depressed... |
ORPHA:1355 |
| Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
|
Hypoplasia of the maxilla, Flexion contracture, Hyperextensibility at wrists, Increased laxity of... |
ORPHA:481152 |
| Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Tracheobronchomalacia, Hypoplasia of the brainstem, Abnormal periventricular white matter morphol... |
ORPHA:500159 |
| Kleefstra Syndrome |
|
Mandibular prognathia, Hypoplasia of penis, Tented upper lip vermilion, Synophrys, Brachycephaly,... |
ORPHA:261494 |
| Chudley-Mccullough Syndrome |
|
Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Cerebellar hypoplasia, Hypop... |
OMIM:604213 |
| Camurati-Engelmann Disease |
|
Craniofacial osteosclerosis, Leukopenia, Cortical thickening of long bone diaphyses, Hepatomegaly... |
ORPHA:1328 |
| Genitopatellar Syndrome |
|
Delayed eruption of teeth, Sparse scalp hair, Wide nose, Small scrotum, Short palm, Prominent nas... |
ORPHA:85201 |
| Potocki-Shaffer Syndrome |
|
Turricephaly, Underdeveloped nasal alae, Parietal foramina, Wide nasal bridge, Brachycephaly, Dow... |
OMIM:601224 |
| Seckel Syndrome |
|
Sparse scalp hair, Abnormal dental enamel morphology, Craniosynostosis, Cachexia, Microcephaly, M... |
ORPHA:808 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Multiple joint contractures, Micrognathia, Multiple joint dislocation, High palate, M... |
ORPHA:536467 |
| Auriculocondylar Syndrome 1 |
|
Dental crowding, Micrognathia, Narrow mouth, Ankylosis, Dental malocclusion, Cleft palate, Mandib... |
OMIM:602483 |
| Glass Syndrome |
|
Dental crowding, Micrognathia, Long nose, Conical tooth, Oligodontia, High palate, Sparse hair, A... |
OMIM:612313 |
| Classic Galactosemia |
|
Male infertility, Hepatomegaly, Decreased serum insulin-like growth factor 1, Premature ovarian i... |
ORPHA:79239 |
| Infantile Osteopetrosis With Neuroaxonal Dysplasia |
|
Pneumonia, Increased skull ossification, Partial agenesis of the corpus callosum, Cerebral atroph... |
ORPHA:85179 |
| Hjv Or Hamp-Related Hemochromatosis |
|
Elevated hepatic transaminase, Arthropathy, Diabetes mellitus, Generalized hyperpigmentation, Con... |
ORPHA:79230 |
| 8P Inverted Duplication/Deletion Syndrome |
|
Short neck, Micrognathia, High, narrow palate, Synophrys, Aplasia/Hypoplasia of the gallbladder, ... |
ORPHA:96092 |
| Bannayan-Riley-Ruvalcaba Syndrome |
|
Neoplasm of the adrenal cortex, Frontal bossing, Wide nose, Anteverted nares, Cachexia, Dolichoce... |
ORPHA:109 |
| Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Recurrent sinopulmonary infections, Osteopenia, Aplastic anemia, Eosinoph... |
ORPHA:486 |
| Foxg1 Syndrome |
|
Kyphoscoliosis, Hypoplasia of the corpus callosum, Decreased body weight, Scoliosis, Pachygyria, ... |
ORPHA:561854 |
| Chromosome 6Pter-P24 Deletion Syndrome |
|
Tented upper lip vermilion, Dental crowding, Short neck, Brachycephaly, High palate, Agenesis of ... |
OMIM:612582 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Abnormally low T cell receptor excision circle level, Pancytopenia, Generalized lymphadenopathy, ... |
OMIM:618986 |
| Mucopolysaccharidosis, Type Ivb |
|
Mandibular prognathia, Widely spaced teeth, Joint laxity, Hepatomegaly, Hyperlordosis, Hypoplasia... |
OMIM:253010 |
| Cerebellofaciodental Syndrome |
|
Microcephaly, Hypoplasia of the pons, Cryptorchidism, Sparse eyebrow, Short neck, Dental malocclu... |
OMIM:616202 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Mandibular prognathia, External genital hypoplasia, Epispadias, High, narrow palate, Hyperconvex ... |
ORPHA:2658 |
| Cockayne Syndrome |
|
Dry hair, Cerebral calcification, Basal ganglia calcification, Congenital contracture, Gliosis, H... |
ORPHA:191 |
| Premature Ovarian Failure 21 |
|
Streak ovary, Precocious puberty in females, Primary amenorrhea, Secondary amenorrhea, Elevated c... |
OMIM:620311 |
| Intellectual Developmental Disorder, X-Linked 58 |
|
Dental malocclusion, Short philtrum, Small nail |
OMIM:300210 |
| Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Osteopenia, Arthropathy, Premature thelarche, Sclerotic cranial sutures, Osteolysis involving bon... |
ORPHA:371428 |
| Gillessen-Kaesbach-Nishimura Syndrome |
|
Underdeveloped nasal alae, Frontotemporal hypertrichosis, Microcephaly, Short neck, Micrognathia,... |
OMIM:263210 |
| Carpenter Syndrome 2 |
|
Short neck, Bilateral cryptorchidism, High, narrow palate, Low anterior hairline, Brachycephaly, ... |
OMIM:614976 |
| Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Hypoplasia of penis, Flat occiput, Synophrys, Brachycephaly, Downturned corners of mouth, Subcort... |
ORPHA:96147 |
| Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
|
Microcephaly, Periventricular cysts, Cerebral atrophy, Abnormal basal ganglia morphology, Hypopla... |
ORPHA:255182 |
| Congenital Disorder Of Glycosylation With Defective Fucosylation 2 |
|
Recurrent respiratory infections, Joint contracture, Periventricular leukomalacia, Agenesis of co... |
OMIM:618324 |
| Diastrophic Dysplasia |
|
Joint dislocation, Recurrent respiratory infections, Increased bone mineral density, Cerebral cal... |
ORPHA:628 |
| Infantile Systemic Hyalinosis |
|
Osteopenia, Short palm, Abnormal dental morphology, Osteomalacia, Micromelia, Short neck, Recurre... |
ORPHA:2176 |
| Erythrokeratodermia Variabilis |
|
Alopecia, Diabetes mellitus, Hypermelanotic macule, Microcephaly, Abnormal hair morphology, Patch... |
ORPHA:317 |
| Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency |
|
Mandibular prognathia, Arthrogryposis multiplex congenita, High palate, Dental malocclusion |
OMIM:608931 |
| Microcephaly, Amish Type |
|
Hepatomegaly, Cerebellar vermis hypoplasia, Micrognathia, Partial agenesis of the corpus callosum... |
OMIM:607196 |
| Acute Panmyelosis With Myelofibrosis |
|
Acute myeloid leukemia, Low back pain, Pancytopenia, Bone marrow hypercellularity, Myelofibrosis,... |
ORPHA:86843 |
| Carpenter Syndrome 1 |
|
External genital hypoplasia, Short neck, Micrognathia, Hypoplasia of the maxilla, Brachycephaly, ... |
OMIM:201000 |
| Amelogenesis Imperfecta, Type Iiia |
|
Anterior open-bite malocclusion, Dental malocclusion, Amelogenesis imperfecta |
OMIM:130900 |
| Aicardi-Goutieres Syndrome 9 |
|
Cerebral calcification, Basal ganglia calcification, Hepatic fibrosis, Micropenis, Hepatic steato... |
OMIM:619487 |
| Oculocerebrocutaneous Syndrome |
|
Alopecia, Cleft ala nasi, Congenital hip dislocation, Cryptorchidism, Orbital encephalocele, Clef... |
OMIM:164180 |
| 2Q32Q33 Microdeletion Syndrome |
|
Decreased testicular size, Anteverted nares, Prominent nasal bridge, Dental crowding, Microcephal... |
ORPHA:251019 |
| Schizencephaly |
|
Schizencephaly, Agenesis of corpus callosum, Cerebral cortical atrophy |
OMIM:269160 |
| Scheuermann Disease |
|
Kyphosis, Osteochondrosis, Morbus Scheuermann |
OMIM:181440 |
| Fanconi Anemia, Complementation Group V |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:617243 |
| 19P13.12 Microdeletion Syndrome |
|
Short neck, Synophrys, Brachycephaly, Short palm, Hepatic steatosis, Hypothyroidism, Generalized ... |
ORPHA:254346 |
| 15Q24 Microdeletion Syndrome |
|
Decreased response to growth hormone stimulation test, Microphallus, Joint laxity, Depressed nasa... |
ORPHA:94065 |
| Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Hypospadias, Anteverted nares, Depressed nasal bridge, Microcephaly, Short neck, Cryptorchidism, ... |
OMIM:217980 |
| Hypogonadotropic Hypogonadism 21 With Or Without Anosmia |
|
Osteopenia, Cleft lip, Osteoporosis, Delayed puberty, Hyposmia |
OMIM:615271 |
| Niemann-Pick Disease, Type A |
|
Hepatomegaly, Recurrent respiratory infections, Elevated circulating aspartate aminotransferase c... |
OMIM:257200 |
| Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Osteopenia, Thoracic scoliosis, Short neck, Micrognathia, Cryptorchidism, Facet joint arthrosis, ... |
OMIM:618000 |
| Mantle Cell Lymphoma |
|
Splenomegaly, Abnormal bone marrow cell morphology, Lymphadenopathy, Weight loss |
ORPHA:52416 |
| Beta-Thalassemia Intermedia |
|
Osteopenia, Extramedullary hematopoiesis, Reduced bone mineral density, Abnormality of the liver,... |
ORPHA:231222 |
| Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Microretrognathia, Recurrent respiratory infections, Cachexia, Long philtrum, Short nose, Abnorma... |
ORPHA:1389 |
| Odontotrichoungual-Digital-Palmar Syndrome |
|
Mandibular prognathia, Natal tooth, Short distal phalanx of toe, Abnormality of hair texture, Sho... |
OMIM:601957 |
| Extensor Tendons Of Finger Anomalies |
|
Limitation of joint mobility, Osteoporosis, Camptodactyly of finger |
ORPHA:3294 |
| Baraitser-Winter Syndrome 2 |
|
Thin upper lip vermilion, Highly arched eyebrow, Short neck, Retrognathia, Orofacial cleft, Wide ... |
OMIM:614583 |
| Sandhoff Disease |
|
Hepatomegaly, Recurrent respiratory infections, Splenomegaly, Kyphosis, Macrocephaly, Failure to ... |
ORPHA:796 |
| Alg9-Cdg |
|
Short neck, Micrognathia, Abnormal lung lobation, Brachycephaly, Abnormal bone ossification, Bifi... |
ORPHA:79328 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Failure to thrive, Agenesis of corpus callosum, Cerebral atrophy, Microcephaly |
OMIM:274270 |
| Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Relative macrocephaly, Sparse scalp hair, Cerebellar vermis hypoplasia, Depressed nasal bridge, S... |
ORPHA:459061 |
| Isolated Congenital Hypoglossia/Aglossia |
|
Micrognathia, Temporomandibular joint ankylosis, Aplasia/Hypoplasia of fingers, Cleft palate, Wei... |
ORPHA:141152 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia6 |
|
Anterior open-bite malocclusion, Enamel hypomineralization, Amelogenesis imperfecta |
OMIM:617217 |
| Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Hypoplasia of the maxilla, Respiratory tract infection, Diffuse white matter abnormalities, Flexi... |
OMIM:218000 |
| 21Q22.11Q22.12 Microdeletion Syndrome |
|
Short proximal phalanx of the 5th finger, Dental crowding, Downturned corners of mouth, Periorbit... |
ORPHA:261323 |
| Fanconi Anemia, Complementation Group R |
|
Radial dysplasia, Microcephaly, Absent thumb, Chromosomal breakage induced by crosslinking agents... |
OMIM:617244 |
| Acromesomelic Dysplasia, Maroteaux Type |
|
Frontal bossing, Depressed nasal bridge, Ovoid vertebral bodies, Hyperlordosis, Joint stiffness, ... |
ORPHA:40 |
| Burkitt Lymphoma |
|
Abnormality of the ovary |
ORPHA:543 |
| Fanconi Anemia |
|
Micrognathia, Reduced bone mineral density, Abnormality of skin pigmentation, Leukopenia, Abnorma... |
ORPHA:84 |
| Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Hypopigmentation of the skin, Brittle hair, Dental crowding, Kyphoscoliosis, Pectus excavatum, Li... |
OMIM:236200 |
| Lateral Meningocele Syndrome |
|
Dental crowding, Short neck, Micrognathia, Coarse hair, High palate, Long philtrum, Vertebral fus... |
OMIM:130720 |
| Endosteal Hyperostosis, Autosomal Dominant |
|
Sclerotic vertebral body, Dental malocclusion, Hyperostosis, Metacarpal diaphyseal endosteal scle... |
OMIM:144750 |
| Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Recurrent... |
OMIM:617780 |
| Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Cachexia, Joint stiffness |
ORPHA:1216 |
| D-Bifunctional Protein Deficiency |
|
Osteopenia, Micrognathia, Cortical dysplasia, High palate, Gliosis, Hepatic steatosis, Long philt... |
OMIM:261515 |
| Perrault Syndrome 1 |
|
Increased circulating gonadotropin level, Osteoporosis, Primary amenorrhea, Gonadal dysgenesis, H... |
OMIM:233400 |
| Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Multiple joint contractures, Abnormal occipital bone morphology, Hypoplasia of the pons, Cortical... |
ORPHA:468631 |
| Hyaline Fibromatosis Syndrome |
|
Osteopenia, Progressive flexion contractures, Flexion contracture, Osteoporosis, Gingival fibroma... |
OMIM:228600 |
| Fanconi Anemia, Complementation Group G |
|
Abnormality of chromosome stability, Microcephaly, Anemia, Neutropenia, Multiple cafe-au-lait spo... |
OMIM:614082 |
| Gomez-Lopez-Hernandez Syndrome |
|
Alopecia, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Anteverted nares, Decrease... |
OMIM:601853 |
| Mosaic Trisomy 1 |
|
Thoracic scoliosis, Cerebellar vermis hypoplasia, Hypoplastic thumbnail, Orofacial cleft, Pulmona... |
ORPHA:1692 |
| O'Donnell-Luria-Rodan Syndrome |
|
Dolichocephaly, Cryptorchidism, Kyphosis, Abnormal cerebral white matter morphology, Prolonged ne... |
OMIM:618512 |
| Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Enlarged polycystic ovaries, Elevated circulating growth hormone concentration, Polycystic ovaries |
ORPHA:90301 |
| Elsahy-Waters Syndrome |
|
Bifid scrotum, Mandibular prognathia, Bilateral cryptorchidism, Hypoplasia of the maxilla, Synoph... |
OMIM:211380 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Mandibular prognathia, Cerebellar vermis hypoplasia, Abnormal lung lobation, Vertebral segmentati... |
OMIM:312870 |
| Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Cerebellar vermis hypoplasia, Synophrys, Hypoplasia of the brainstem, Joint laxity, Hypospadias, ... |
OMIM:617751 |
| Gaucher Disease, Type I |
|
Hepatomegaly, Pancytopenia, Hyperpigmentation of the skin, Epistaxis, Hypersplenism, Splenomegaly... |
OMIM:230800 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Narrow nasal bridge, Frontal bossing, Thin upper lip vermilion, Hyperextensibility of the finger ... |
OMIM:309520 |
| Opitz-Kaveggia Syndrome |
|
Multiple joint contractures, Dental crowding, Prominent nose, Short neck, Micrognathia, Partial a... |
OMIM:305450 |
| Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Recurrent respiratory infections, Pancytopenia, Autoimmune hemolytic anemia, Sinusitis, Chronic h... |
ORPHA:572 |
| Trisomy 1Q |
|
Microretrognathia, Frontal bossing, Wide nose, Small scrotum, Depressed nasal bridge, Camptodacty... |
ORPHA:261344 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Osteopenia, Short neck, Micrognathia, Multiple joint dislocation, Brachycephaly, Knee dislocation... |
OMIM:245600 |
| X-Linked Intellectual Disability, Snyder Type |
|
Mandibular prognathia, Dental crowding, Synophrys, Brachycephaly, High palate, Short philtrum, Hy... |
ORPHA:3063 |
| Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Failure to thrive, Cachexia, Weight loss |
OMIM:612075 |
| Bone Dysplasia, Lethal Holmgren Type |
|
Joint dislocation, Frontal bossing, Hepatomegaly, Recurrent respiratory infections, Anteverted na... |
ORPHA:1842 |
| Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Osteopenia, Hypogonadotropic hypogonadism, Hypospadias, Joint hypermobility, Diastema, Cryptorchi... |
OMIM:619718 |
| Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus |
|
Ivory epiphyses of the phalanges of the hand, Irregular vertebral endplates, High palate, Barrel-... |
OMIM:226980 |
| Cantú Syndrome |
|
Short neck, Low anterior hairline, Generalized hirsutism, Long philtrum, Anteverted nares, Curly ... |
ORPHA:1517 |
| Microphthalmia, Syndromic 2 |
|
Flexion contracture, Oligodontia, Fused teeth, Laterally curved eyebrow, Contracture of the proxi... |
OMIM:300166 |
| Acute Erythroid Leukemia |
|
Bone marrow hypercellularity, Pancytopenia, Erythroid hypoplasia, Leukopenia, Bone marrow hypocel... |
ORPHA:318 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Osteopenia, Frontal bossing, Joint laxity, Isosexual precocious puberty, Osteoporosis, Increased ... |
ORPHA:2788 |
| Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Persistent open anterior fontanelle, Micrognathia, High palate, Pachygyria, Agenesis of corpus ca... |
OMIM:614866 |
| Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Cerebellar vermis hypoplasia, Flat occiput, Tented upper lip vermilion, Flexion contracture, High... |
OMIM:619383 |
| Avascular Necrosis Of Femoral Head, Primary, 1 |
|
Generalized osteoporosis |
OMIM:608805 |
| X-Linked Neurodegenerative Syndrome, Bertini Type |
|
Recurrent bronchopulmonary infections, Agenesis of corpus callosum |
ORPHA:85334 |
| De Barsy Syndrome |
|
Osteopenia, Cerebellar vermis hypoplasia, Congenital hip dislocation, Generalized joint laxity, B... |
ORPHA:2962 |
| Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Cryptorchidism, Anosmia, Obesity, Primary ameno... |
OMIM:610628 |
| Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Hepatomegaly, Pancytopenia, Thin upper lip vermilion, Small for gestational age, Megaloblastic an... |
OMIM:277380 |
| Masa Syndrome |
|
Agenesis of corpus callosum, Camptodactyly of finger |
ORPHA:2466 |
| Xfe Progeroid Syndrome |
|
Elevated hepatic transaminase, Premature ovarian insufficiency, Cachexia, Microcephaly, Enamel hy... |
OMIM:610965 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Tented upper lip vermilion, Hypospadias, Anteverted nares, Microcephaly, Kyphosis, Recurrent pneu... |
OMIM:616449 |
| Sclerosteosis 1 |
|
Mandibular prognathia, Frontal bossing, Depressed nasal bridge, Sclerotic scapulae, Irregular men... |
OMIM:269500 |
| Joubert Syndrome 37 |
|
Frontal bossing, Wide nose, Cerebellar vermis hypoplasia, Anteverted nares, Lumbar hyperlordosis,... |
OMIM:619185 |
| Shwachman-Diamond Syndrome 1 |
|
Myocardial necrosis, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Small for gestational ag... |
OMIM:260400 |
| Stickler Syndrome |
|
Joint dislocation, Micrognathia, Hypoplasia of the maxilla, Osteoarthritis, Depressed nasal ridge... |
ORPHA:828 |
| Autosomal Recessive Spastic Paraplegia Type 67 |
|
Agenesis of corpus callosum, Cerebral cortical atrophy, Aplasia/Hypoplasia of the cerebellar vermis |
ORPHA:401820 |
| Functioning Gonadotropic Adenoma |
|
Osteopenia, Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell ad... |
ORPHA:91348 |
| Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2 |
|
Increased susceptibility to spontaneous sister chromatid exchange |
OMIM:618097 |
| Ring Chromosome 22 Syndrome |
|
Absent septum pellucidum, Microcephaly, Protruding tongue, Toenail dysplasia, Bulbous nose, Azoos... |
ORPHA:1446 |
| Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Stomatitis, Autoimmune thrombocytopenia,... |
OMIM:613011 |
| Pelizaeus-Merzbacher Disease |
|
Recurrent respiratory infections, Failure to thrive in infancy, Cachexia, Microcephaly, Joint sti... |
ORPHA:702 |
| Williams-Beuren Region Duplication Syndrome |
|
Cerebellar vermis hypoplasia, Small for gestational age, Decreased response to growth hormone sti... |
OMIM:609757 |
| Alpha-Mannosidosis, Adult Form |
|
Osteopenia, Pancytopenia, Pneumonia, Hepatosplenomegaly, Macroglossia, Subcortical cerebral atrop... |
ORPHA:309288 |
| Autosomal Recessive Spastic Paraplegia Type 69 |
|
Agenesis of corpus callosum, Cerebral cortical atrophy, Aplasia/Hypoplasia of the cerebellar vermis |
ORPHA:401830 |
| Rhizomelic Syndrome, Urbach Type |
|
Abnormal hair quantity, Abnormality of the knee, Depressed nasal bridge, Rhizomelia, Short neck, ... |
ORPHA:3098 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Back pain, Limited elbow movement, Short neck, Micrognathia, Reduced bone mineral density, Glosso... |
ORPHA:94068 |
| Spondyloepiphyseal Dysplasia Tarda |
|
Back pain, Osteoarthritis of the distal interphalangeal joint, Limited elbow movement, Short neck... |
ORPHA:93284 |
| Menkes Disease |
|
Joint laxity, Alopecia, Brittle hair, Wormian bones, Microcephaly, Osteoporosis, Brachycephaly, S... |
OMIM:309400 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Spontaneous, recurrent epistaxis, Pancytopenia, Cachexia, Pectus excavatum, Abnormality of the sp... |
ORPHA:2072 |
| Combined Oxidative Phosphorylation Deficiency 2 |
|
Elevated hepatic transaminase, Small for gestational age, Patent ductus arteriosus, Neonatal deat... |
OMIM:610498 |
| Chédiak-Higashi Syndrome |
|
Large clumps of pigment irregularly distributed along hair shaft, Vacuolated lymphocytes, Periodo... |
ORPHA:167 |
| Cutis Laxa, Autosomal Recessive, Type Iiia |
|
Frontal bossing, Wide cranial sutures, Congenital hip dislocation, Wormian bones, Narrow nasal ri... |
OMIM:219150 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Cerebellar vermis hypoplasia, Micromelia, Prominent nose, Short neck, Micrognathia, Partial agene... |
OMIM:210710 |
| Bainbridge-Ropers Syndrome |
|
Dental crowding, Micrognathia, Synophrys, Contracture of the proximal interphalangeal joint of th... |
OMIM:615485 |
| Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies |
|
Depressed nasal bridge, Decreased response to growth hormone stimulation test, Microcephaly, Fail... |
OMIM:615286 |
| Acrocallosal Syndrome |
|
Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Micropenis, Agen... |
OMIM:200990 |
| Amelogenesis Imperfecta |
|
Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t... |
ORPHA:88661 |
| Atypical Werner Syndrome |
|
Sclerosis of hand bone, Micrognathia, Abnormal hair whorl, Fasting hyperinsulinemia, Reduced bone... |
ORPHA:79474 |
| Geroderma Osteodysplasticum |
|
Mandibular prognathia, Osteopenia, Hyperextensibility of the finger joints, Recurrent fractures, ... |
OMIM:231070 |
| Coronary Artery Disease, Autosomal Dominant 2 |
|
Osteoporosis, Type II diabetes mellitus, Gout |
OMIM:610947 |
| Pachydermoperiostosis |
|
Abnormal hair quantity, Hepatomegaly, Osteomyelitis, Abnormal fingernail morphology, Abnormal hai... |
ORPHA:2796 |
| Al-Gazali-Bakalinova Syndrome |
|
Frontal bossing, Enlarged joints, Depressed nasal bridge, Short neck, Pectus excavatum, Wide nasa... |
OMIM:607131 |
| Polymicrogyria Due To Tubb2B Mutation |
|
Schizencephaly, Microcephaly, Hypoplasia of the pons, Cortical dysplasia, Dysgenesis of the basal... |
ORPHA:300573 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Pancytopenia, Megakaryocyte dysplasia, Anemia, Increased mean corpuscular... |
OMIM:619041 |
| Apert Syndrome |
|
Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Micromelia, Hypoplasia of the maxilla, Ve... |
ORPHA:87 |
| Coffin-Siris Syndrome 6 |
|
Frontal bossing, Depressed nasal bridge, Kyphoscoliosis, Broad nasal tip, Pectus excavatum, Micro... |
OMIM:617808 |
| Craniotelencephalic Dysplasia |
|
Frontal bossing, Septo-optic dysplasia, Craniosynostosis, Microcephaly, Frontal encephalocele, Li... |
ORPHA:1528 |
| Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers |
|
Frontal bossing, Wide nose, Pectus excavatum, Kyphosis, Obesity, Oligodontia, Everted lower lip v... |
ORPHA:276630 |
| Chloramphenicol Toxicity |
|
Aplastic anemia |
OMIM:515000 |
| Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Lumbar hyperlordosis, Microcephaly, Kyphosis, Hip dislocation, Obesity, Cerebral atrophy, Hypopla... |
OMIM:616756 |
| Craniofaciofrontodigital Syndrome |
|
Osteopenia, Joint laxity, Depressed nasal bridge, Thick hair, Large for gestational age, Patent d... |
ORPHA:363705 |
| Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Frontal bossing, Hypoplasia of penis, Depressed nasal bridge, Abnormal dental enamel morphology, ... |
ORPHA:1812 |
| Koolen-De Vries Syndrome |
|
High, narrow palate, Vertebral segmentation defect, Microdontia, Thick nasal alae, Hypothyroidism... |
ORPHA:96169 |
| Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Joint dislocation, Abnormality of the temporomandibular joint, Multiple joint contrac... |
ORPHA:536471 |
| Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Frontal bossing, Sacral dimple, Pulmonary cyst, Depressed nasal bridge, Anteverted nares, Large f... |
OMIM:618272 |
| Mismatch Repair Cancer Syndrome 4 |
|
Multiple cafe-au-lait spots, Agenesis of corpus callosum |
OMIM:619101 |
| Fraser-Like Syndrome |
|
Ovarian cyst |
OMIM:229230 |
| Dubowitz Syndrome |
|
Delayed eruption of teeth, Sparse scalp hair, Sacral dimple, Hypospadias, Prominent nasal bridge,... |
OMIM:223370 |
| Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Cachexia, Joint stiffness |
ORPHA:1144 |
| Cartilage-Hair Hypoplasia |
|
Micromelia, Short neck, Depressed nasal ridge, Brachycephaly, Abnormal form of the vertebral bodi... |
ORPHA:175 |
| Combined Oxidative Phosphorylation Deficiency 50 |
|
Partial agenesis of the corpus callosum, Adrenal insufficiency, Microcephaly |
OMIM:619025 |
| Progressive Nodular Histiocytosis |
|
Cachexia |
ORPHA:158022 |
| Hypogonadotropic Hypogonadism 9 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cleft lip, Anosmia, Osteoporosis, Cleft palate, Bifid nose, Hyposm... |
OMIM:614838 |
| Fanconi-Like Syndrome |
|
Recurrent lower respiratory tract infections, Pancytopenia, Multiple bilateral pneumothoraces, Os... |
OMIM:227850 |
| Robinow Syndrome, Autosomal Recessive 1 |
|
Tented upper lip vermilion, Dental crowding, Short neck, Micrognathia, Hemivertebrae, Clitoral hy... |
OMIM:268310 |
| Mosaic Trisomy 8 |
|
Frontal bossing, Wide nose, Hypopigmentation of the skin, Anteverted nares, Camptodactyly of fing... |
ORPHA:96061 |
| Intellectual Developmental Disorder, X-Linked 82 |
|
Kyphosis, Scoliosis |
OMIM:300518 |
| Trisomy 20P |
|
Short neck, Micrognathia, Low anterior hairline, Brachycephaly, Abnormal form of the vertebral bo... |
ORPHA:261318 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Joint dislocation, Decreased response to growth hormone stimulation test, Pineal cyst, Thick nasa... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Joint dislocation, Decreased response to growth hormone stimulation test, Pineal cyst, Thick nasa... |
ORPHA:363958 |
| Immunodeficiency 21 |
|
Megakaryocyte nucleus hypolobulation, Osteomyelitis, Aplastic anemia, B lymphocytopenia, Cervical... |
OMIM:614172 |
| Stuve-Wiedemann Syndrome 1 |
|
Enlarged joints, Short neck, Micrognathia, Knee flexion contracture, Blotching pigmentation of th... |
OMIM:601559 |
| Corpus Callosum, Agenesis Of, With Abnormal Genitalia |
|
Hypospadias, Hyperconvex nail, Limb joint contracture, Microcephaly, Cryptorchidism, Synophrys, L... |
OMIM:300004 |
| Dubowitz Syndrome |
|
Aplasia/Hypoplasia of the thumb, Abnormality of neutrophils, Micrognathia, Hypoplastic toenails, ... |
ORPHA:235 |
| Barber-Say Syndrome |
|
Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Low anterior hairline, High palat... |
OMIM:209885 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Mandibular prognathia, Tented upper lip vermilion, High, narrow palate, Male urethral meatus sten... |
ORPHA:464738 |
| Hypogonadotropic Hypogonadism 15 With Or Without Anosmia |
|
Osteopenia, Cryptorchidism, Anosmia, Osteoporosis, Primary amenorrhea, Cleft palate, Genu valgum,... |
OMIM:614880 |
| Baraitser-Winter Cerebrofrontofacial Syndrome |
|
Prominent nose, Long nose, Short neck, Micrognathia, Subcortical cerebral atrophy, Pachygyria, He... |
ORPHA:2995 |
| Emanuel Syndrome |
|
Congenital hip dislocation, Dental crowding, Micrognathia, High palate, Micropenis, Joint contrac... |
OMIM:609029 |
| Bohring-Opitz Syndrome |
|
Joint dislocation, Micrognathia, Synophrys, Congenital contracture, Agenesis of corpus callosum, ... |
ORPHA:97297 |
| Ruvalcaba Syndrome |
|
Short palm, Short metacarpal, Dental crowding, Micromelia, Underdeveloped nasal alae, Microcephal... |
OMIM:180870 |
| Pontocerebellar Hypoplasia, Type 11 |
|
Recurrent respiratory infections, Microcephaly, Hypoplasia of the pons, Bulbous nose, Cerebellar ... |
OMIM:617695 |
| Fraser Syndrome 1 |
|
Aplasia/Hypoplasia of the thumb, Cleft ala nasi, Dental crowding, Abnormal thymus morphology, Cho... |
OMIM:219000 |
| Aarskog-Scott Syndrome |
|
Hyperextensibility of the finger joints, Short neck, Bilateral cryptorchidism, Hypoplasia of the ... |
OMIM:305400 |
| Lathosterolosis |
|
Bilobate gallbladder, Micrognathia, Ambiguous genitalia, male, High palate, Thick upper lip vermi... |
OMIM:607330 |
| Frontonasal Dysplasia 2 |
|
Aplasia of the nasal bone, Cerebellar vermis hypoplasia, Cleft ala nasi, Conical tooth, Bilateral... |
OMIM:613451 |
| Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Dental crowding, Micrognathia, Synophrys, Low anterior hairline, Oligodontia, High palate, Short ... |
OMIM:617061 |
| Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Flat occiput, Cerebral calcification, Micrognathia, High, narrow palate, Brachycephaly, Spina bif... |
ORPHA:2780 |
| Greig Cephalopolysyndactyly Syndrome |
|
Frontal bossing, Craniosynostosis, Wide nasal bridge, Macrocephaly, Umbilical hernia, Agenesis of... |
ORPHA:380 |
| Grant Syndrome |
|
Joint dislocation, Frontal bossing, Depressed nasal bridge, Micrognathia, Open bite, Large fontan... |
ORPHA:2097 |
| Griscelli Syndrome, Type 1 |
|
Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar... |
OMIM:214450 |
| Focal Dermal Hypoplasia |
|
Ridged nail, Linear hyperpigmentation, Cleft ala nasi, Brittle hair, Congenital hip dislocation, ... |
OMIM:305600 |
| Orofaciodigital Syndrome I |
|
Dry hair, Porencephalic cyst, Lobulated tongue, Hepatic fibrosis, High palate, Sparse hair, Agene... |
OMIM:311200 |
| Myoectodermal Gonadal Dysgenesis Syndrome |
|
Clitoral hypoplasia, Short palm, Agenesis of corpus callosum, Accessory spleen, Elevated circulat... |
OMIM:618419 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Cachexia, Distal arthrogryposis, Decreased liver fun... |
ORPHA:42 |
| Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Mandibular prognathia, Septo-optic dysplasia, Cerebellar vermis hypoplasia, Short fourth metatars... |
OMIM:619841 |
| Sweeney-Cox Syndrome |
|
Flat occiput, Micrognathia, Bilateral cryptorchidism, Asplenia, Low anterior hairline, Brachyceph... |
OMIM:617746 |
| Cohen Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Low anterior hairline, Abnormality ... |
ORPHA:193 |
| Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies |
|
Thin upper lip vermilion, Sacral dimple, Flat occiput, Prominent nasal bridge, Highly arched eyeb... |
OMIM:617452 |
| Microcephaly, Growth Deficiency, Seizures, And Brain Malformations |
|
Tented upper lip vermilion, Small for gestational age, Depressed nasal bridge, Microcephaly, Part... |
OMIM:618346 |
| Prader-Willi Syndrome Due To Translocation |
|
Flat occiput, External genital hypoplasia, Decreased response to growth hormone stimulation test,... |
ORPHA:177907 |
| Pulmonary Blastoma |
|
Recurrent pneumonia, Pleuropulmonary blastoma, Weight loss |
ORPHA:64741 |
| Faciodigitogenital Syndrome, Autosomal Recessive |
|
Vertebral fusion, Anteverted nares, Prominent nasal bridge, Pectus excavatum, Cryptorchidism, Wid... |
OMIM:227330 |
| Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome |
|
Hyperextensibility of the finger joints, Flat occiput, Short neck, Brachycephaly, High palate, Lo... |
ORPHA:505237 |
| Schinzel-Giedion Syndrome |
|
Short neck, Micrognathia, Abnormality of the gingiva, Choanal stenosis, Short philtrum, High pala... |
ORPHA:798 |
| Myasthenic Syndrome, Congenital, 23, Presynaptic |
|
Agenesis of corpus callosum |
OMIM:618197 |
| Hypogonadotropic Hypogonadism 2 With Or Without Anosmia |
|
Osteopenia, Hypogonadotropic hypogonadism, Choanal atresia, Cleft upper lip, Cryptorchidism, Anos... |
OMIM:147950 |
| Griscelli Syndrome, Type 2 |
|
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hepatosplenomegaly, Hemophagocytosi... |
OMIM:607624 |
| Dyskeratosis Congenita, Autosomal Dominant 6 |
|
Pancytopenia, Aplastic anemia, Microcephaly, Abnormality of the dentition, Nail dystrophy, Cerebe... |
OMIM:616553 |
| Beare-Stevenson Cutis Gyrata Syndrome |
|
Bifid scrotum, Flat occiput, Choanal stenosis, High palate, Agenesis of corpus callosum, Bifid uv... |
OMIM:123790 |
| Congenital Disorder Of Glycosylation, Type Il |
|
Frontal bossing, Hepatomegaly, Depressed nasal bridge, Microcephaly, Short neck, Kyphosis, Hip di... |
OMIM:608776 |
| Acromelic Frontonasal Dysplasia |
|
Encephalocele, Median cleft lip, Anterior pituitary hypoplasia, Broad nasal tip, Bifid nasal tip,... |
ORPHA:1827 |
| 1P36 Deletion Syndrome |
|
Hypoplasia of penis, Abnormality of the spleen, Depressed nasal ridge, Brachycephaly, Abnormality... |
ORPHA:1606 |
| Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome |
|
Delayed eruption of teeth, Prominent nasal bridge, Osteoporosis, Platyspondyly, Short philtrum, D... |
ORPHA:71267 |
| Ring Chromosome Y Syndrome |
|
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt... |
ORPHA:261529 |
| Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Mandibular prognathia, Frontal bossing, Joint laxity, Prominent metopic ridge, Hyperconvex nail, ... |
OMIM:619721 |
| Nail-Patella Syndrome |
|
Back pain, Flexion contracture, Patellar hypoplasia, Reduced bone mineral density, Knee flexion c... |
ORPHA:2614 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Microvesicular hepatic steatosis, High palate, Hepatic steatosis, Agenesis of corpus callosum, Ac... |
OMIM:619418 |
| Lujan-Fryns Syndrome |
|
Dental crowding, Prominent nasal bridge, Camptodactyly of finger, Micrognathia, Pectus excavatum,... |
ORPHA:776 |
| Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Recurrent ... |
ORPHA:2235 |
| Lissencephaly Due To Tuba1A Mutation |
|
Microretrognathia, Cerebellar vermis hypoplasia, Agyria, Optic nerve hypoplasia, Microcephaly, Hy... |
ORPHA:171680 |
| Intellectual Developmental Disorder, Autosomal Recessive 65 |
|
Prominent metopic ridge, Hypospadias, Prominent nasal bridge, Supernumerary nipple, Cryptorchidis... |
OMIM:618109 |
| Williams Syndrome |
|
Osteopenia, Hypoplasia of penis, Micrognathia, Hypoplastic toenails, Abnormal form of the vertebr... |
ORPHA:904 |
| Ovarian Dysgenesis 1 |
|
Increased circulating gonadotropin level, Gonadal dysgenesis, Osteoporosis, Primary amenorrhea |
OMIM:233300 |
| Propionic Acidemia |
|
Hepatomegaly, Hypoglycemia, Cardiomyopathy |
ORPHA:35 |
| Fetal Akinesia Syndrome, X-Linked |
|
Stillbirth, Agenesis of corpus callosum |
OMIM:300073 |
| Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome |
|
Recurrent respiratory infections, Hypospadias, Abnormality of the dentition, Joint stiffness, Kyp... |
ORPHA:1548 |
| Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Mandibular prognathia, Prominent metopic ridge, Tented upper lip vermilion, Depressed nasal bridg... |
ORPHA:261144 |
| Monosomy 9P |
|
Short neck, Micrognathia, Synophrys, Brachycephaly, High palate, Agenesis of corpus callosum, Hyp... |
ORPHA:261112 |
| Immunodeficiency 60 And Autoimmunity |
|
Recurrent sinopulmonary infections, Pancytopenia, Splenomegaly, Bronchiectasis, Decreased basophi... |
OMIM:618394 |
| Noonan Syndrome 13 |
|
Short neck, Micrognathia, High palate, Widely spaced teeth, Microdontia, Cavum septum pellucidum,... |
OMIM:619087 |
| Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Medial flaring of the eyebrow, Smooth philtrum, Long nose, Partial agenesis of the corpus callosu... |
OMIM:620113 |
| Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Limited elbow movement, Short neck, Micrognathia, Synophrys, Low anterior hairline, Brachycephaly... |
OMIM:610759 |
| Osteoporosis |
|
Osteoporosis |
OMIM:166710 |
| Squalene Synthase Deficiency |
|
Hypospadias, Optic nerve hypoplasia, Depressed nasal bridge, Failure to thrive in infancy, Bilate... |
OMIM:618156 |
| 46,Xy Partial Gonadal Dysgenesis |
|
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... |
ORPHA:251510 |
| Celiac Disease, Susceptibility To, 1 |
|
Elevated hepatic transaminase, Alopecia, Cerebral calcification, Macrocytic anemia, Stomatitis, O... |
OMIM:212750 |
| Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
Prominent nasal bridge, Choanal atresia, Short neck, Bilateral cryptorchidism, Thoracolumbar scol... |
OMIM:300472 |
| Immunodeficiency 49 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Natal tooth, Wormian bones, Eosinophi... |
OMIM:617237 |
| Osteoporosis, Juvenile |
|
Osteoporosis |
OMIM:259750 |
| Lymphedema, Primary, With Myelodysplasia |
|
Acute myeloid leukemia, Pancytopenia, Decreased CD4:CD8 ratio, Leukemia |
OMIM:614038 |
| Mitochondrial Complex I Deficiency, Nuclear Type 16 |
|
Caudate atrophy, Adrenal insufficiency, Scoliosis, Failure to thrive, Agenesis of corpus callosum |
OMIM:618238 |
| Osteogenesis Imperfecta, Type Iii |
|
Frontal bossing, Wormian bones, Recurrent fractures, Severe generalized osteoporosis, Micrognathi... |
OMIM:259420 |
| Pearson Syndrome |
|
Decreased response to growth hormone stimulation test, Abnormality of the liver, Neutropenia, Hep... |
ORPHA:699 |
| Wolman Disease |
|
Hepatomegaly, Adrenal calcification, Cachexia, Bone-marrow foam cells, Splenomegaly, Adrenal insu... |
ORPHA:75233 |
| X-Linked Lissencephaly With Abnormal Genitalia |
|
Hypoplasia of penis, Microcephaly, Micrognathia, Cryptorchidism, Patent ductus arteriosus, Ambigu... |
ORPHA:452 |
| Malocclusion Due To Protuberant Upper Front Teeth |
|
Dental malocclusion |
OMIM:154300 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Relative macrocephaly, Curly hair, Sparse scalp hair, Myelofibrosis, Joint laxity, Large for gest... |
OMIM:607721 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Dysmenorrhea, Abnormal erythrocyte enzyme level, Spl... |
ORPHA:264580 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Reduced bone min... |
ORPHA:289548 |
| Smith-Magenis Syndrome |
|
Mandibular prognathia, Tented upper lip vermilion, Micrognathia, Synophrys, Brachycephaly, Abnorm... |
ORPHA:819 |
| 46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal hypoplasia, Reduced bone mineral density, Sex rever... |
ORPHA:168558 |
| Lissencephaly 6 With Microcephaly |
|
Thin upper lip vermilion, Anteverted nares, Microcephaly, Partial agenesis of the corpus callosum... |
OMIM:616212 |
| Aicardi-Goutieres Syndrome 7 |
|
Hemolytic anemia, Intracerebral periventricular calcifications, Pancytopenia, Generalized lymphad... |
OMIM:615846 |
| Schaaf-Yang Syndrome |
|
Mandibular prognathia, Frontal bossing, Failure to thrive in infancy, Abnormality of the philtrum... |
OMIM:615547 |
| Mirror Movements 1 |
|
Agenesis of corpus callosum |
OMIM:157600 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6 |
|
Pancytopenia, Reticular hyperpigmentation, Premature graying of hair, Bone marrow hypocellularity... |
OMIM:619767 |
| Cranioectodermal Dysplasia 1 |
|
High, narrow palate, Hepatic fibrosis, High palate, Widely spaced teeth, Sparse hair, Microdontia... |
OMIM:218330 |
| Opitz Gbbb Syndrome |
|
Frontal bossing, Abnormal nasopharynx morphology, Cerebellar vermis hypoplasia, Hypospadias, Ante... |
OMIM:300000 |
| Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Cerebral calcification, Generalized hirsutism, Cachexia, Microcephaly |
ORPHA:1933 |
| Joubert Syndrome 18 |
|
Joint laxity, Occipital encephalocele, Trident pelvis, Agenesis of cerebellar vermis, Kyphoscolio... |
OMIM:614815 |
| Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 |
|
Osteopenia, Joint laxity, Contracture of the proximal interphalangeal joint of the 2nd finger, De... |
OMIM:130060 |
| Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome |
|
Underdeveloped nasal alae, Microcephaly, Kyphosis, Pectus excavatum, Micrognathia, Depressed nasa... |
ORPHA:77300 |
| Primrose Syndrome |
|
Cerebral calcification, Bilateral cryptorchidism, Hypoplasia of the maxilla, Synophrys, Flexion c... |
OMIM:259050 |
| 46,Xy Sex Reversal 7 |
|
Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex... |
OMIM:233420 |
| Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Relative macrocephaly, Increased body mass index, Delayed eruption of teeth, Congenital hip dislo... |
OMIM:614450 |
| Whipple Disease |
|
Hepatomegaly, Generalized hyperpigmentation, Cachexia, Splenomegaly, Mediastinal lymphadenopathy,... |
ORPHA:3452 |
| Brachyolmia Type 1, Hobaek Type |
|
Back pain, Osteopenia, Sclerotic foci of metaphyses of the elbow, Short neck, Kyphosis, Flat acet... |
OMIM:271530 |
| Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Hypoplasia of penis, Tented upper lip vermilion, Flexion contracture, Depressed nasal ridge, Abno... |
ORPHA:847 |
| Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Thoracic scoliosis, Cerebellar vermis hypoplasia, Flat occiput, Micrognathia, Partial agenesis of... |
ORPHA:300570 |
| Bone Marrow Failure Syndrome 1 |
|
Pancytopenia, Aplastic anemia, Bone marrow hypocellularity |
OMIM:614675 |
| Wiedemann-Rautenstrauch Syndrome |
|
Short neck, Micrognathia, Flexion contracture, Brachycephaly, Downturned corners of mouth, Hypopl... |
OMIM:264090 |
| Trichothiodystrophy 4, Nonphotosensitive |
|
Brittle hair, Anteverted nares, Sparse eyelashes, Microcephaly, Abnormality of hair texture, Conc... |
OMIM:234050 |
| 2P15P16.1 Microdeletion Syndrome |
|
Brachycephaly, High palate, Prominent metopic ridge, Sparse eyebrow, Wide nasal bridge, Scoliosis... |
ORPHA:261349 |
| X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Folate-dependent fragile site at Xq28 |
ORPHA:85327 |
| Spondylometaphyseal Dysplasia, X-Linked |
|
Hyperextensibility of the finger joints, Hip contracture, Enlarged joints, Depressed nasal bridge... |
OMIM:313420 |
| Vici Syndrome |
|
Schizencephaly, Cerebellar vermis hypoplasia, Albinism, Micrognathia, Leukopenia, T lymphocytopen... |
OMIM:242840 |
| Localized Scleroderma |
|
Abnormal skin adnexa morphology, Abnormality of the nose, Abnormality of the dentition, Flexion c... |
ORPHA:90289 |
| 46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypoplasia of the vagina, Dysmenorrhea, Reduced bone mineral density, Ambiguous genitalia, male, ... |
ORPHA:90796 |
| Noonan Syndrome 1 |
|
Amegakaryocytic thrombocytopenia, Short neck, Micrognathia, High, narrow palate, High palate, Mal... |
OMIM:163950 |
| Hemifacial Hyperplasia |
|
Hypoplasia of the maxilla, Dental malocclusion |
OMIM:133900 |
| Immunodeficiency, Common Variable, 13 |
|
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia |
OMIM:616873 |
| Acrodysostosis |
|
Mandibular prognathia, Micromelia, Hypoplasia of the maxilla, Depressed nasal ridge, Brachycephal... |
ORPHA:950 |
| Trigonocephaly-Short Stature-Developmental Delay Syndrome |
|
Small for gestational age, Wide nasal bridge, Premature posterior fontanelle closure, Multiple su... |
ORPHA:3369 |
| Cerebrofacioarticular Syndrome |
|
Osteopenia, Irregular dentition, Cerebellar vermis hypoplasia, Hypospadias, Microcephaly, Bilater... |
ORPHA:314679 |
| Spinocerebellar Ataxia 48 |
|
Cachexia |
OMIM:618093 |
| Fraser Syndrome |
|
Hypoplasia of penis, Small scrotum, Cleft ala nasi, Dental crowding, Abnormal lung lobation, Orof... |
ORPHA:2052 |
| Microsporidiosis |
|
Sinusitis, Cholangitis, Bronchitis, Abnormality of the spleen, Abnormality of the parathyroid gla... |
ORPHA:2552 |
| Pseudodiastrophic Dysplasia |
|
Smooth philtrum, Frontal bossing, Lumbar hyperlordosis, Anteverted nares, Rhizomelia, Phalangeal ... |
OMIM:264180 |
| Wolf-Hirschhorn Syndrome |
|
Micrognathia, Periventricular cysts, Abnormal form of the vertebral bodies, Orofacial cleft, Down... |
OMIM:194190 |
| Farber Disease |
|
Intrahepatic cholestasis with episodic jaundice, Nodular pattern on pulmonary HRCT, Flexion contr... |
ORPHA:333 |
| Lateral Meningocele Syndrome |
|
Dental crowding, Short neck, Micrognathia, High, narrow palate, Abnormal form of the vertebral bo... |
ORPHA:2789 |
| Perrault Syndrome 4 |
|
Premature ovarian insufficiency, Increased circulating gonadotropin level, Osteoporosis, Obesity,... |
OMIM:615300 |
| Fanconi Anemia, Complementation Group Q |
|
Chromosome breakage |
OMIM:615272 |
| White-Sutton Syndrome |
|
Mandibular prognathia, Short neck, Micrognathia, Brachycephaly, Downturned corners of mouth, Shor... |
OMIM:616364 |
| Temtamy Syndrome |
|
Frontal bossing, Dental crowding, Highly arched eyebrow, Micrognathia, Hip dislocation, Thick cor... |
OMIM:218340 |
| Hypogonadotropic Hypogonadism 18 With Or Without Anosmia |
|
Osteopenia, Abnormality of the dentition, Anosmia, Osteoporosis, Absence of pubertal development,... |
OMIM:615267 |
| Donnai-Barrow Syndrome |
|
Depressed nasal bridge, Malar flattening, Broad nasal tip, Wide anterior fontanel, Partial agenes... |
OMIM:222448 |
| Schinzel-Giedion Midface Retraction Syndrome |
|
Abnormal nasopharynx morphology, Small scrotum, Increased density of long bones, Short neck, Hypo... |
OMIM:269150 |
| Neuroectodermal Melanolysosomal Disease |
|
Recurrent respiratory infections, Hypopigmentation of hair, Generalized hyperpigmentation, Premat... |
ORPHA:33445 |
| Morgagni-Stewart-Morel Syndrome |
|
Diabetes mellitus, Abnormality of the endocrine system, Abnormality of the thyroid gland, Osteoar... |
ORPHA:77296 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Osteopenia, Cerebral calcification, Thrombocytopenia, Osteoporosis, Pathologic fracture, Leukoenc... |
OMIM:612199 |
| Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Highly arched eyebrow, Microcephaly, Nail dystrophy, Hypoplasia of the corpus callosum, Long phil... |
OMIM:300887 |
| Trigonocephaly 1 |
|
Craniosynostosis, Microcephaly, High, narrow palate, Synophrys, Long penis, Wide nasal bridge, Lu... |
OMIM:190440 |
| Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Hypospadias, Abnormal dental morphology, Hyperlordosis, Short neck, Microcephaly, Kyphosis, Pectu... |
ORPHA:2522 |
| Koolen-De Vries Syndrome |
|
High palate, Widely spaced teeth, Iris hypopigmentation, Vertebral fusion, Prominent metopic ridg... |
OMIM:610443 |
| Progressive Pseudorheumatoid Arthropathy Of Childhood |
|
Irregularity of vertebral bodies, Wrist swelling, Irregular vertebral endplates, Abnormal hip joi... |
ORPHA:1159 |
| Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities |
|
Mandibular prognathia, Prominent metopic ridge, Cerebellar vermis hypoplasia, Anteverted nares, D... |
OMIM:620001 |
| Holoprosencephaly 9 |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Hypoplasia ... |
OMIM:610829 |
| Duplication Of The Pituitary Gland |
|
Encephalocele, Abnormality of the cervical spine, Thoracic scoliosis, Abnormal odontoid process m... |
ORPHA:314621 |
| Marfan Syndrome |
|
Osteopenia, Dental crowding, Limited elbow movement, Micrognathia, High, narrow palate, Emphysema... |
ORPHA:558 |
| Congenital Neuronal Ceroid Lipofuscinosis |
|
Microcephaly, Wide nasal bridge, Neuronal loss in the cerebral cortex, Gliosis, Cerebellar hypopl... |
ORPHA:168486 |
| Yunis-Varon Syndrome |
|
Aplasia of the distal phalanges of the hand, Aplasia/Hypoplasia of the scapulae, Abnormal occipit... |
ORPHA:3472 |
| Felty Syndrome |
|
Sinusitis, Neutropenia, Abnormal lymphocyte morphology, Hepatomegaly, Recurrent pharyngitis, Lymp... |
ORPHA:47612 |
| Coffin-Siris Syndrome 1 |
|
Dry hair, Conical tooth, Partial agenesis of the corpus callosum, Brachycephaly, Short philtrum, ... |
OMIM:135900 |
| Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Osteopenia, Abnormal intervertebral disk morphology, Micromelia, Prominent nose, Long nose, Short... |
ORPHA:2636 |
| X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Mandibular prognathia, Joint laxity, Cerebellar vermis hypoplasia, Genu recurvatum, Malar flatten... |
ORPHA:364028 |
| Coenzyme Q10 Deficiency, Primary, 1 |
|
Diffuse cerebral atrophy, Pancytopenia, Hypergonadotropic hypogonadism, Hepatic failure, Anemia |
OMIM:607426 |
| German Syndrome |
|
Abnormal eyebrow morphology, Depressed nasal bridge, Camptodactyly of finger, Short neck, Microgn... |
ORPHA:2077 |
| Idiopathic Bronchiectasis |
|
Cachexia, Respiratory tract infection, Emphysema, Bronchiectasis, Acute infectious pneumonia, Rec... |
ORPHA:60033 |
| Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities |
|
Micrognathia, Synophrys, High palate, Short philtrum, Hepatomegaly, Anteverted nares, Thoracolumb... |
OMIM:618443 |
| Oligodontia |
|
Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... |
ORPHA:99798 |
| Trisomy 17P |
|
Hypoplasia of penis, Prominent nose, Short neck, Micrognathia, Flexion contracture, Orofacial cle... |
ORPHA:261290 |
| Autosomal Recessive Cutis Laxa Type 2A |
|
Frontal bossing, Thick cerebral cortex, Cerebellar vermis hypoplasia, Persistent open anterior fo... |
ORPHA:357058 |
| Smith-Lemli-Opitz Syndrome |
|
Bifid scrotum, Diffuse cerebral atrophy, Small scrotum, Dental crowding, Micromelia, Micrognathia... |
OMIM:270400 |
| Craniolenticulosutural Dysplasia |
|
Osteopenia, Brittle hair, Coarse hair, High palate, Sparse hair, Bifid uvula, Long philtrum, Join... |
OMIM:607812 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 2 |
|
Irregular dentition, Pericardial lymphangiectasia, Depressed nasal bridge, Pulmonary lymphangiect... |
OMIM:616006 |
| Hidrotic Ectodermal Dysplasia |
|
Slow-growing nails, Palmoplantar hyperkeratosis, Absent pubic hair, Sparse hair, Hyperkeratotic p... |
ORPHA:189 |
| Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Small for gestational age, Kyphosis, Reduced bone mineral density, Delayed ossification of carpal... |
OMIM:618392 |
| Toriello-Carey Syndrome |
|
Microcephaly, Sparse eyebrow, Cryptorchidism, Partial agenesis of the corpus callosum, Short neck... |
ORPHA:3338 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Hepatosplenome... |
OMIM:603553 |
| Fg Syndrome 3 |
|
Relative macrocephaly, Cryptorchidism, Fine hair, Frontal upsweep of hair, Sparse hair, Joint con... |
OMIM:300406 |
| Nizon-Isidor Syndrome |
|
Thin upper lip vermilion, Anteverted nares, Hypospadias, Depressed nasal bridge, Prominent nasal ... |
OMIM:618872 |
| Meckel Syndrome 12 |
|
Agenesis of cerebellar vermis, Anteverted nares, Microcephaly, Micrognathia, Wide nasal bridge, A... |
OMIM:616258 |
| Amish Lethal Microcephaly |
|
Hepatomegaly, Cerebellar vermis hypoplasia, Cleft soft palate, Spina bifida, Microcephaly, Microg... |
ORPHA:99742 |
| Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Hyperextensibility of the finger joints, Decreased response to growth hormone stimulation test, L... |
OMIM:213980 |
| Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Flat occiput, Adrenal hypoplasia, Micrognathia, High, narrow palate, High palate, Intrahepatic bi... |
OMIM:214100 |
| Rett Syndrome |
|
Cachexia, Abnormality of the dentition, Kyphosis, Short foot, Secondary microcephaly, Scoliosis, ... |
OMIM:312750 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Cerebellar vermis hypoplasia, Focal polymicrogyria, Dysgenesis of the basal ganglia, Partial agen... |
OMIM:615771 |
| Imerslund-Gräsbeck Syndrome |
|
Reticulocytosis, Macrocytic anemia, Pancytopenia, Angular cheilitis, Megaloblastic anemia, Anisop... |
ORPHA:35858 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Dental crowding, Abnormal curvature of the vertebral column, Abnormality of the cervical spine, J... |
ORPHA:353281 |
| Meckel Syndrome, Type 1 |
|
Occipital encephalocele, External genital hypoplasia, Adrenal hypoplasia, Short neck, Asplenia, M... |
OMIM:249000 |
| Spondylo-Ocular Syndrome |
|
Abnormal eyebrow morphology, Abnormal intervertebral disk morphology, Short neck, Osteoporosis, L... |
ORPHA:85194 |
| Fryns Syndrome |
|
Bifid scrotum, Ectopic pancreatic tissue, Tented upper lip vermilion, Large for gestational age, ... |
OMIM:229850 |
| Treacher-Collins Syndrome |
|
Hypoplasia of penis, Small scrotum, Micrognathia, Hypoplasia of the maxilla, Low anterior hairlin... |
ORPHA:861 |
| Bone Marrow Failure And Diabetes Mellitus Syndrome |
|
Type I diabetes mellitus, Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphobla... |
OMIM:620044 |
| Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Hypopigmentation of hair, Abnormal reproductive system morphology, Brachycephaly, Abnormal cerebr... |
ORPHA:70472 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Elevated hepatic transaminase, Hepatomegaly, Osteopenia, Hyperlordosis, Spinal rigidity, Splenome... |
OMIM:613327 |
| Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Cerebellar vermis hypoplasia, Depressed nasal bridge, Highly arched eyebrow, Microcephaly, Short ... |
OMIM:615802 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Severe B lymphocytopenia, Micrognathia, Hepatic fibrosis, Sparse hair, Microdontia, Hypothyroidis... |
OMIM:620005 |
| Peters-Plus Syndrome |
|
Hypoplasia of the vagina, Short lingual frenulum, Bilobate gallbladder, Limited elbow movement, S... |
OMIM:261540 |
| Fanconi Anemia, Complementation Group N |
|
Aplastic anemia, Short neck, Microcephaly, Short thumb, Cafe-au-lait spot, Chromosomal breakage i... |
OMIM:610832 |
| Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Joint stiffness, Dental malocclusion, Platy... |
OMIM:608940 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Large for gestational age, Short neck, Microvesicular hepatic steatosis, Micrognathia, Flexion co... |
OMIM:300868 |
| Craniosynostosis And Dental Anomalies |
|
Mandibular prognathia, Flat occiput, Dental crowding, Hypoplasia of the maxilla, Brachycephaly, H... |
OMIM:614188 |
| Ruvalcaba Syndrome |
|
Short metacarpal, Dental crowding, Micromelia, Microcephaly, Cryptorchidism, Kyphosis, Narrow mou... |
ORPHA:3121 |
| Ogden Syndrome |
|
Microretrognathia, Frontal bossing, Everted upper lip vermilion, Delayed cranial suture closure, ... |
ORPHA:276432 |
| Uruguay Faciocardiomusculoskeletal Syndrome |
|
Congenital hip dislocation, Limited elbow movement, Prominent nose, Synophrys, Camptodactyly of t... |
OMIM:300280 |
| Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Sparse scalp hair, Pancytopenia, B lymphocytopenia, Nail dystrophy, Bone marrow hypocellularity, ... |
OMIM:620133 |
| Riddle Syndrome |
|
Generalized lymphadenopathy, Pneumonia, Bronchitis, Microcephaly, Recurrent pneumonia, Abnormal p... |
ORPHA:420741 |
| Cole-Carpenter Syndrome 2 |
|
Microretrognathia, Frontal bossing, Turricephaly, Osteopenia, Wide cranial sutures, Recurrent fra... |
OMIM:616294 |
| Hereditary Folate Malabsorption |
|
Recurrent respiratory infections, Pancytopenia, Cerebral calcification, Eosinophilia, Megaloblast... |
ORPHA:90045 |
| 49,Xxxxy Syndrome |
|
Mandibular prognathia, Hypoplasia of penis, Small scrotum, Short neck, Depressed nasal ridge, Bra... |
ORPHA:96264 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Iron deficiency anemia, Neutropenia, Hypothyroidism, Alopecia, Hyperthyroidism, Autoimmune thromb... |
ORPHA:37042 |
| Trichohepatoneurodevelopmental Syndrome |
|
Dental crowding, Synophrys, Brachycephaly, Downturned corners of mouth, Coarse hair, High palate,... |
OMIM:618268 |
| Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Narrow nasal bridge, Frontal bossing, Hypoplasia of penis, Mandibular prognathia, Slow-growing ha... |
ORPHA:3082 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Anteverted nares, Microcephaly, Precocious puberty, Cleft upper lip, Bulbous nose, Wide nasal bri... |
OMIM:300958 |
| Warburg Micro Syndrome 3 |
|
Small scrotum, Kyphoscoliosis, Microcephaly, Micrognathia, Hypoplastic labia minora, Flexion cont... |
OMIM:614222 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Short metacarpal, Micromelia, Osteoarthritis, Limitation of joint mobility, Osteoporosis, Short m... |
ORPHA:93351 |
| Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Atrial septal defect, Hyperinsulinemia, Hypoglycemia, Hypoglycemic seizures |
OMIM:620211 |
| Isovaleric Acidemia |
|
Leukopenia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:243500 |
| Partial Androgen Insensitivity Syndrome |
|
Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Male infertility, Hypospadias, Elevated ... |
ORPHA:90797 |
| Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects |
|
Kyphosis, Tongue fasciculations, Narrow mouth, Failure to thrive, Progressive microcephaly |
OMIM:620007 |
| Indolent Systemic Mastocytosis |
|
Hepatomegaly, Splenomegaly, Osteoporosis, Lymphadenopathy, Increased proportion of CD25+ mast cel... |
ORPHA:98848 |
| Autosomal Recessive Spondylocostal Dysostosis |
|
Abnormal intervertebral disk morphology, Short neck, Abnormal form of the vertebral bodies, Verte... |
ORPHA:2311 |
| Micro Syndrome |
|
Hypoplasia of penis, Cerebellar vermis hypoplasia, Micrognathia, Clitoral hypoplasia, High palate... |
ORPHA:2510 |
| Pycnodysostosis |
|
Ridged nail, Frontal bossing, Increased bone mineral density, Persistent open anterior fontanelle... |
OMIM:265800 |
| 1Q21.1 Microdeletion Syndrome |
|
Frontal bossing, Microcephaly, Cryptorchidism, Bulbous nose, Patent ductus arteriosus, Wide nasal... |
ORPHA:250989 |
| 1Q44 Microdeletion Syndrome |
|
Frontal bossing, Prominent metopic ridge, Exaggerated cupid's bow, Microcephaly, Micrognathia, Sy... |
ORPHA:238769 |
| Sickle Cell Anemia |
|
Pigment gallstones, Hemolytic anemia, Reticulocytosis, Osteomyelitis, Microcytic anemia, Abnormal... |
ORPHA:232 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Frontal bossing, Wide nose, Small for gestational age, Depressed nasal bridge, Anteverted nares, ... |
OMIM:613320 |
| Hypoplasminogenemia |
|
Cervicitis, Abnormality of the ovary, Abnormal fallopian tube morphology |
ORPHA:722 |
| Orofaciodigital Syndrome Type 1 |
|
Brittle hair, Micrognathia, Reduced bone mineral density, Lobulated tongue, Coarse hair, High pal... |
ORPHA:2750 |
| Gaba-Transaminase Deficiency |
|
Retrognathia, Agenesis of corpus callosum, Cerebellar hypoplasia |
OMIM:613163 |
| Chromosome 2P16.1-P15 Deletion Syndrome |
|
Hypoplasia of the pons, High, narrow palate, Cortical dysplasia, Brachycephaly, High palate, Micr... |
OMIM:612513 |
| Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
|
Microcephaly, Pectus excavatum, Partial agenesis of the corpus callosum, High palate, Trigonocephaly |
OMIM:245349 |
| Parastremmatic Dwarfism |
|
Short neck, Kyphosis, Flexion contracture, Genu valgum, Scoliosis |
OMIM:168400 |
| Baller-Gerold Syndrome |
|
Limited elbow movement, Micrognathia, Brachycephaly, Patellar hypoplasia, Choanal stenosis, High ... |
OMIM:218600 |
| Cutis Laxa, Autosomal Recessive, Type Iia |
|
Brittle hair, Congenital hip dislocation, Coarse hair, High palate, Pachygyria, Dandy-Walker malf... |
OMIM:219200 |
| Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Frontal bossing, Thin upper lip vermilion, Depressed nasal bridge, Supernumerary nipple, Cryptorc... |
OMIM:618929 |
| Gaucher Disease |
|
Osteopenia, Joint dislocation, Osteoarthritis, Abnormality of skin pigmentation, Hepatomegaly, In... |
ORPHA:355 |
| Wieacker-Wolff Syndrome |
|
U-Shaped upper lip vermilion, Anteverted nares, Short neck, Microcephaly, Hyperlordosis, Kyphosis... |
OMIM:314580 |
| Difference Of Sex Development-Intellectual Disability Syndrome |
|
Hypoplasia of penis, Small scrotum, Abnormal hair pattern, Short neck, Kyphosis, Synophrys, Low p... |
ORPHA:2983 |
| Hydrolethalus |
|
Absent septum pellucidum, Micromelia, Micrognathia, Cryptorchidism, Submucous cleft hard palate, ... |
ORPHA:2189 |
| Holoprosencephaly 11 |
|
Microcephaly, Cleft lip, Synophrys, Cleft palate, Polysplenia, Agenesis of corpus callosum, Thick... |
OMIM:614226 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Osteopenia, Short neck, Micrognathia, High, narrow palate, Hypoplastic toenails, Reduced bone min... |
ORPHA:99413 |
| Mosaic Monosomy X |
|
Osteopenia, Short neck, Micrognathia, High, narrow palate, Hypoplastic toenails, Reduced bone min... |
ORPHA:99228 |
| Monosomy X |
|
Osteopenia, Short neck, Micrognathia, High, narrow palate, Hypoplastic toenails, Reduced bone min... |
ORPHA:99226 |
| Turner Syndrome |
|
Osteopenia, Short neck, Micrognathia, High, narrow palate, Hypoplastic toenails, Reduced bone min... |
ORPHA:881 |
| Ring Chromosome 13 Syndrome |
|
Bifid scrotum, Aplasia/Hypoplasia of the thumb, Short neck, Micrognathia, Abnormality of skin pig... |
ORPHA:96176 |
| Martsolf Syndrome 1 |
|
Thoracic scoliosis, Micrognathia, Hypoplasia of the maxilla, Low anterior hairline, Brachycephaly... |
OMIM:212720 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Cerebral calcification, Sclerotic vertebral body, Tented upper lip vermilion, Kyphosis, Bulbous n... |
OMIM:618476 |
| Thymoma |
|
Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Weight loss, Neoplasm of... |
ORPHA:99867 |
| Fg Syndrome Type 1 |
|
Dental crowding, Prominent nose, Micrognathia, Generalized joint laxity, Fused teeth, High palate... |
ORPHA:93932 |
| Autosomal Recessive Primary Microcephaly |
|
Thin upper lip vermilion, Microcephaly, Hypoplasia of the frontal lobes, Abnormal cortical bone m... |
ORPHA:2512 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Dental crowding, Micrognathia, Abnormal curvature of the vertebral column, High palate, Abnormali... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Dental crowding, Micrognathia, Abnormal curvature of the vertebral column, High palate, Abnormali... |
ORPHA:353277 |
| 15Q Overgrowth Syndrome |
|
Mandibular prognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Denta... |
ORPHA:314585 |
| Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Back pain, Diffuse cerebral atrophy, Kyphoscoliosis, Cervical spondylosis, Deep cerebral white ma... |
ORPHA:199354 |
| Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Osteopenia, Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secreti... |
OMIM:610475 |
| Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Portal hypertension, Splenomegaly, Leu... |
OMIM:615688 |
| Cutis Laxa, Autosomal Recessive, Type Iiib |
|
Osteopenia, Narrow nasal ridge, Underdeveloped nasal alae, Cryptorchidism, Flexion contracture, O... |
OMIM:614438 |
| Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Osteopenia, Cholangitis, Short neck, Micrognathia, Short metatarsal, Hepatic fibrosis, Widely spa... |
OMIM:266920 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Mandibular prognathia, Tented upper lip vermilion, External genital hypoplasia, Large for gestati... |
ORPHA:96334 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Decreased hemoglobin concentration, Dental crowding, Micrognathia, High palate, Micropenis, Decre... |
OMIM:619005 |
| Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 |
|
Osteopenia, Arthropathy, Pectus excavatum, Patent ductus arteriosus, Limitation of joint mobility... |
OMIM:259100 |
| Tetraamelia-Multiple Malformations Syndrome |
|
Aplasia/Hypoplasia involving the nose, Septo-optic dysplasia, Abnormally ossified vertebrae, Micr... |
ORPHA:3301 |
| Silver-Russell Syndrome 1 |
|
Frontal bossing, Small for gestational age, Hypospadias, Decreased response to growth hormone sti... |
OMIM:180860 |
| Albinism, Oculocutaneous, Type Iii |
|
Red hair, Partial albinism, Albinism |
OMIM:203290 |
| Brachydactyly, Type B1 |
|
Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, Aplasia/Hypoplasia of the distal p... |
OMIM:113000 |
| Zellweger Syndrome |
|
Hepatomegaly, Failure to thrive, Flat occiput, Hypospadias, Depressed nasal bridge, Microcephaly,... |
ORPHA:912 |
| Bardet-Biedl Syndrome |
|
Medial flaring of the eyebrow, Hypoplasia of penis, Prominent nasal bridge, Short neck, Cryptorch... |
ORPHA:110 |
| Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Cerebral calcification, Small for gestational age, Depressed nasal bridge, Failure to thrive in i... |
OMIM:617241 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Mandibular prognathia, Hypospadias, Depressed nasal bridge, Microcephaly, Focal polymicrogyria, C... |
OMIM:619103 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Dysmenorrhea, Splenomegaly, Irregular menstruation, ... |
ORPHA:79240 |
| Wrinkly Skin Syndrome |
|
Osteopenia, Congenital hip dislocation, High palate, Microdontia, Sparse hair, Microretrognathia,... |
OMIM:278250 |
| Juvenile Polyposis Of Infancy |
|
Refractory anemia, Frontal bossing, Depressed nasal bridge, Cachexia, High, narrow palate, Patent... |
ORPHA:79076 |
| Aromatase Deficiency |
|
Macroorchidism, postpubertal, Eunuchoid habitus, Male infertility, Osteopenia, Hypergonadotropic ... |
ORPHA:91 |
| Dietary Iron Overload Disease |
|
Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Abnormal thyroid morp... |
ORPHA:139507 |
| Methylmalonic Aciduria, Cblb Type |
|
Hepatomegaly, Pancytopenia, Anemia, Neutropenia, Decreased methylmalonyl-CoA mutase activity, Fai... |
OMIM:251110 |
| Cleidocranial Dysplasia 1 |
|
Persistent open anterior fontanelle, Micrognathia, Absent frontal sinuses, High, narrow palate, S... |
OMIM:119600 |
| Mirage Syndrome |
|
Lymphopenia, Hypergonadotropic hypogonadism, Hypospadias, Adrenal hypoplasia, Cryptorchidism, Pat... |
OMIM:617053 |
| Bruck Syndrome 1 |
|
Joint laxity, Hip contracture, Protrusio acetabuli, Ankle flexion contracture, Kyphosis, Osteopor... |
OMIM:259450 |
| Yunis-Varon Syndrome |
|
Cerebellar vermis hypoplasia, Flat occiput, Anterior concavity of thoracic vertebrae, Congenital ... |
OMIM:216340 |
| Osteogenesis Imperfecta, Type Xx |
|
Mandibular prognathia, Tented upper lip vermilion, Wormian bones, Highly arched eyebrow, Microcep... |
OMIM:618644 |
| Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Osteopenia, Curly hair, Obtuse angle of mandible, Increased bone mineral density, Micrognathia, W... |
ORPHA:85184 |
| Myopathic Ehlers-Danlos Syndrome |
|
Multiple joint contractures, Micrognathia, High, narrow palate, Flexion contracture, Knee flexion... |
ORPHA:536516 |
| Spastic Paraplegia 11, Autosomal Recessive |
|
Degeneration of the lateral corticospinal tracts, Obesity, Ankle clonus, Hypoplasia of the corpus... |
OMIM:604360 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Limited elbow movement, Micrognathia, Long nose, Increased intervertebral space, T lymphocytopeni... |
ORPHA:508533 |
| Fontaine Progeroid Syndrome |
|
Mandibular prognathia, Small scrotum, Cerebellar vermis hypoplasia, Micrognathia, High, narrow pa... |
OMIM:612289 |
| Paget Disease Of Bone 5, Juvenile-Onset |
|
Relative macrocephaly, Barrel-shaped chest, Osteopenia, Increased bone mineral density, Short hum... |
OMIM:239000 |
| Coffin-Lowry Syndrome |
|
Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Hyperconvex fingernails, High p... |
ORPHA:192 |
| Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Abnormality of retinal pigmentation, Hypergonadotropic hypogonadism, Hyperlordosis, Cryptorchidis... |
ORPHA:3085 |
| Coffin-Siris Syndrome 4 |
|
Short philtrum, Pulmonary artery atresia, Thick nasal alae, Agenesis of corpus callosum, Dandy-Wa... |
OMIM:614609 |
| Hyperparathyroidism, Transient Neonatal |
|
Osteopenia, Frontal bossing, Hyperparathyroidism, Short femur, Depressed nasal bridge, Anteverted... |
OMIM:618188 |
| Congenital Disorder Of Glycosylation, Type Iia |
|
Mandibular prognathia, Osteopenia, Short neck, Brachycephaly, Sparse hair, Thoracolumbar kyphosco... |
OMIM:212066 |
| Pelger-Huet Anomaly |
|
Frontal bossing, Depressed nasal bridge, Abnormality of neutrophils, Abnormality of the dentition... |
OMIM:169400 |
| 48,Xxxy Syndrome |
|
Mandibular prognathia, Hypoplasia of penis, Small scrotum, Short neck, Depressed nasal ridge, Bra... |
ORPHA:96263 |
| Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Small scrotum, Downturned corners of mouth, Hyperconvex fingernails, Advanced eruption of teeth, ... |
ORPHA:2215 |
| Endocrine-Cerebroosteodysplasia |
|
Small scrotum, Adrenal hypoplasia, Micrognathia, Micromelia, Sex reversal, Microphallus, Aplasia/... |
OMIM:612651 |
| Hurler Syndrome |
|
Short neck, Flexion contracture, Microdontia, Hepatomegaly, Depressed nasal bridge, Anteverted na... |
OMIM:607014 |
| Mgat2-Cdg |
|
Impaired lymphocyte transformation with phytohemagglutinin, Osteopenia, Dental crowding, Abnormal... |
ORPHA:79329 |
| Congenital Factor Vii Deficiency |
|
Ovarian cyst, Menorrhagia |
ORPHA:327 |
| Oliver Syndrome |
|
Mandibular prognathia, Camptodactyly of finger, Supernumerary nipple, Microcephaly, Short toe, De... |
ORPHA:2920 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Agenesis of cerebellar vermis, Type II lissencephaly, Hypoplasia of the pons, Low anterior hairli... |
OMIM:613153 |
| Microform Holoprosencephaly |
|
Narrow nasal bridge, Hypoplasia of penis, Tented upper lip vermilion, Anteverted nares, Choanal a... |
ORPHA:280200 |
| Frank-Ter Haar Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Depressed nasal bridge, Camptodactyly of finger... |
ORPHA:137834 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 11 |
|
Schizencephaly, Reduced cerebral white matter volume, Short neck, Micrognathia, High, narrow pala... |
OMIM:620156 |
| Laryngotracheoesophageal Cleft Type 4 |
|
Abnormality of the spleen, Abnormal mesentery morphology, Cachexia, Abnormal form of the vertebra... |
ORPHA:93941 |
| Severe Intellectual Disability-Corpus Callosum Agenesis-Facial Dysmorphism-Cerebellar Ataxia Syndrome |
|
Thick eyebrow, Cerebellar vermis hypoplasia, Anteverted nares, Highly arched eyebrow, Microcephal... |
ORPHA:466688 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Pancytopenia, Diabetes mellitus, Thrombocytopenia, Leukopenia, Failure to thrive, Anemia |
OMIM:613845 |
| Gapo Syndrome |
|
Micrognathia, High, narrow palate, Eruption failure, Sparse hair, Hepatomegaly, Alopecia, Depress... |
OMIM:230740 |
| Osteogenesis Imperfecta, Type Xviii |
|
Joint laxity, Thin bony cortex, Recurrent fractures, Joint hypermobility, Micrognathia, Abnormali... |
OMIM:617952 |
| Gorlin Syndrome |
|
Mandibular prognathia, Frontal bossing, Vertebral fusion, Cerebral calcification, Hypogonadotropi... |
ORPHA:377 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Osteopenia, Oral ulcer, Gingivitis, Periodontitis, Hepatic steatosis, Hypothyroidism, Hepatomegal... |
ORPHA:79259 |
| Osteogenesis Imperfecta, Type Ix |
|
Short lower limbs, Recurrent fractures, Pectus excavatum, Kyphosis, Multiple prenatal fractures, ... |
OMIM:259440 |
| Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia |
|
Thick eyebrow, Cerebellar vermis hypoplasia, Anteverted nares, Partial agenesis of the corpus cal... |
OMIM:616819 |
| Pituitary Hormone Deficiency, Combined Or Isolated, 1 |
|
Anterior pituitary hypoplasia, Reduced circulating prolactin concentration, Hypothyroidism, Depre... |
OMIM:613038 |
| Ogden Syndrome |
|
Large posterior fontanelle, Congenital hip dislocation, Maternal diabetes, Short neck, Micrognath... |
OMIM:300855 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat... |
ORPHA:95699 |
| Hardikar Syndrome |
|
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Intrahepatic bile duct dilatation, H... |
OMIM:301068 |
| Auriculocondylar Syndrome |
|
Abnormality of the temporomandibular joint, Dental crowding, Hamartoma of tongue, Micrognathia, N... |
ORPHA:137888 |
| Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Recurrent bronchopulmonary infections, Hypopigmentation of hair, Partial albinism, Neutropenia |
ORPHA:90023 |
| Trisomy 8P |
|
Short fourth metatarsal, Multiple joint contractures, Short neck, Abnormal lung lobation, Aplasia... |
ORPHA:264450 |
| Zimmermann-Laband Syndrome 2 |
|
Thick eyebrow, Underdeveloped nasal alae, Bifid nasal tip, Short neck, Synophrys, Widow's peak, K... |
OMIM:616455 |
| Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts |
|
Wormian bones, Microcephaly, Pectus excavatum, Multiple prenatal fractures, Decreased calvarial o... |
OMIM:259410 |
| Chromosome 6Q24-Q25 Deletion Syndrome |
|
Medial flaring of the eyebrow, Probst bundles, Frontal bossing, Thin upper lip vermilion, Antever... |
OMIM:612863 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Alopecia, Hyperpigmentation of the skin, Cachexia, Nail dystrophy, Nail dysplasia, Glossitis, Anemia |
OMIM:175500 |
| Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Large posterior fontanelle, Ectopic posterior pituitary, Decreased response to growth hormone sti... |
ORPHA:226307 |
| Fumarase Deficiency |
|
Relative macrocephaly, Frontal bossing, Failure to thrive, Anteverted nares, Depressed nasal brid... |
OMIM:606812 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Bone marrow hypercellularity, Granulocytic hyperplasia, Myeloid leukemia, Hepa... |
ORPHA:98849 |
| Dentinogenesis Imperfecta, Shields Type Iii |
|
Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti... |
OMIM:125500 |
| Ornithine Transcarbamylase Deficiency |
|
Splenomegaly, Hypoglycemia |
ORPHA:664 |
| Orofaciodigital Syndrome Xv |
|
Cerebellar vermis hypoplasia, Anteverted nares, Wide nasal bridge, Midline notch of upper alveola... |
OMIM:617127 |
| Juvenile Paget Disease |
|
Abnormality of retinal pigmentation, Recurrent fractures, Abnormality of the dentition, Cranial h... |
ORPHA:2801 |
| Infantile Krabbe Disease |
|
Diffuse cerebral atrophy, Hypointensity of cerebral white matter on MRI, Cachexia, Decreased head... |
ORPHA:206436 |
| Craniometadiaphyseal Dysplasia |
|
Mandibular prognathia, Natal tooth, Osteopenia, Wormian bones, Dental crowding, Megalencephaly, C... |
OMIM:269300 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Mandibular prognathia, Thoracic scoliosis, Short neck, Micrognathia, Generalized joint laxity, Th... |
ORPHA:508498 |
| Trisomy 13 |
|
Median cleft lip, Abnormality of the dentition, Abnormal eyelash morphology, Cryptorchidism, Kyph... |
ORPHA:3378 |
| Hallermann-Streiff Syndrome |
|
Micrognathia, High, narrow palate, Brachycephaly, Abnormality of the fontanelles or cranial sutur... |
ORPHA:2108 |
| Fryns Syndrome |
|
Tented upper lip vermilion, Hypospadias, Anteverted nares, Median cleft lip, Short neck, Microgna... |
ORPHA:2059 |
| X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome |
|
Mandibular prognathia, Prominent metopic ridge, Kyphosis, Synophrys, Cleft palate, Short philtrum... |
ORPHA:85317 |
| Pde4D Haploinsufficiency Syndrome |
|
Mandibular prognathia, Thickened calvaria, Prominent nose, Micrognathia, Hypoplasia of the maxill... |
ORPHA:439822 |
| Fanconi Anemia, Complementation Group U |
|
Chromosome breakage |
OMIM:617247 |
| Faciocardiomelic Syndrome |
|
Osteopenia, Depressed nasal bridge, Anteverted nares, Large for gestational age, Microcephaly, Mi... |
OMIM:612731 |
| Genitourinary And/Or Brain Malformation Syndrome |
|
Aplasia of the nasal bone, Micrognathia, Micropenis, Agenesis of corpus callosum, Long philtrum, ... |
OMIM:618820 |
| Distal Deletion 10Q |
|
Prominent nose, Micrognathia, Hypoplastic toenails, Short metatarsal, Brachycephaly, High palate,... |
ORPHA:96148 |
| Band Heterotopia |
|
Subcortical band heterotopia, Plagiocephaly, Lateral ventricle dilatation, Macrocephaly, Polymicr... |
OMIM:600348 |
| Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome |
|
Thin upper lip vermilion, Wide nose, Abnormal nasal bone morphology, Choanal atresia, Underdevelo... |
ORPHA:521308 |
| Akt2-Related Familial Partial Lipodystrophy |
|
Oligomenorrhea, Polycystic ovaries |
ORPHA:79085 |
| Cystic Echinococcosis |
|
Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Multiple pulmonary c... |
ORPHA:400 |
| Simpson-Golabi-Behmel Syndrome |
|
Mandibular prognathia, Hypoplasia of penis, Congenital hip dislocation, Short neck, High, narrow ... |
ORPHA:373 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Mandibular prognathia, Absent frontal sinuses, Hemivertebrae, Widely-spaced maxillary central inc... |
OMIM:301040 |
| 16Q24.3 Microdeletion Syndrome |
|
Smooth philtrum, Frontal bossing, Anteverted nares, Optic nerve hypoplasia, Highly arched eyebrow... |
ORPHA:261250 |
| Thanatophoric Dysplasia |
|
Frontal bossing, Cloverleaf skull, Depressed nasal bridge, Micromelia, Joint stiffness, Abnormal ... |
ORPHA:2655 |
| Tenorio Syndrome |
|
Mandibular prognathia, Osteopenia, Wide nose, Hypoinsulinemia, Anteverted nares, Joint laxity, De... |
OMIM:616260 |
| Kleefstra Syndrome 2 |
|
Microcephaly, Kyphosis, Plagiocephaly, Bifid uvula, Everted lower lip vermilion, Scoliosis, Midfa... |
OMIM:617768 |
| Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Large posterior fontanelle, Micrognathia, Brachycephaly, Absent eyebrow, Hypospadias, Abnormal de... |
ORPHA:85199 |
| Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Abnormality of the knee, Hyperlordosis, Osteolysis, Foot acroosteolysis, Reduced bone mineral den... |
ORPHA:970 |
| Dermatosparaxis Ehlers-Danlos Syndrome |
|
Osteopenia, Joint dislocation, Depressed nasal bridge, Osteomalacia, Micrognathia, Joint stiffnes... |
ORPHA:1901 |
| Monosomy 13Q34 |
|
Hepatic steatosis, Metrorrhagia, Epistaxis, Prominent nasal bridge, Broad nasal tip, Prominent no... |
ORPHA:96168 |
| Sandestig-Stefanova Syndrome |
|
Laterally extended eyebrow, Prominent metopic ridge, Small for gestational age, Highly arched eye... |
OMIM:618804 |
| Methylmalonic Aciduria, Cbla Type |
|
Hepatomegaly, Pancytopenia, Anemia, Neutropenia, Decreased methylmalonyl-CoA mutase activity, Fai... |
OMIM:251100 |
| Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Wormian bones, Depressed nasal bridge, Anteverted nares, Kyphoscoliosis, Broad nasal tip, Short n... |
OMIM:300232 |
| Cleft Lip/Palate |
|
Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in... |
ORPHA:199306 |
| Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Mandibular prognathia, Cerebellar vermis hypoplasia, Prominent nose, Micrognathia, Depressed nasa... |
OMIM:156200 |
| Fetal Trimethadione Syndrome |
|
Depressed nasal bridge, Hypospadias, Microcephaly, Micrognathia, Synophrys, Brachycephaly, High p... |
ORPHA:1913 |
| Cdags Syndrome |
|
Sparse scalp hair, Frontal bossing, Sparse eyelashes, Hypospadias, Sagittal craniosynostosis, Spa... |
OMIM:603116 |
| Hypogonadotropic Hypogonadism 20 With Or Without Anosmia |
|
Osteopenia, Anosmia, Osteoporosis, Hypogonadism, Delayed puberty |
OMIM:615270 |
| Acromelic Frontonasal Dysostosis |
|
Brachycephaly, Patellar hypoplasia, Cavum septum pellucidum, Short tibia, Agenesis of corpus call... |
OMIM:603671 |
| Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Highly arched eyebrow, Microg... |
ORPHA:404440 |
| Sjögren-Larsson Syndrome |
|
Abnormality of retinal pigmentation, Generalized hyperpigmentation, Abnormal dental enamel morpho... |
ORPHA:816 |
| Mycetoma |
|
Back pain, Abnormality of the knee, Osteomyelitis, Abnormality of the lymphatic system, Bone cyst... |
ORPHA:2583 |
| Prolactinoma |
|
Osteopenia, Male hypogonadism, Hypogonadotropic hypogonadism, Osteoporosis, Decreased fertility i... |
ORPHA:2965 |
| Congenital Myopathy 17 |
|
Mandibular prognathia, Tented upper lip vermilion, Failure to thrive in infancy, Pectus excavatum... |
OMIM:618975 |
| Progressive Pseudorheumatoid Dysplasia |
|
Arthropathy, Enlarged interphalangeal joints, Camptodactyly of finger, Kyphoscoliosis, Joint stif... |
OMIM:208230 |
| Williams-Beuren Syndrome |
|
Osteopenia, Flexion contracture, Premature graying of hair, Early onset of sexual maturation, Mic... |
OMIM:194050 |
| Metatropic Dysplasia |
|
Abnormal intervertebral disk morphology, Depressed nasal bridge, Camptodactyly of finger, Microme... |
ORPHA:2635 |
| Occipital Horn Syndrome |
|
Osteopenia, Cerebral calcification, High, narrow palate, Coarse hair, Short palm, Abnormality of ... |
ORPHA:198 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Short neck, Micrognathia, Delayed proximal femoral epiphyseal ossification, Flexion contracture, ... |
OMIM:271640 |
| X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome |
|
Mandibular prognathia, Long philtrum, Microretrognathia, Hypospadias, Cryptorchidism, Pulmonary a... |
ORPHA:459070 |
| Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies |
|
Kyphosis, Short thumb, Cerebral atrophy, Camptodactyly |
OMIM:618453 |
| Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Prominent nasal bridge, Short neck, Cryptorchidism, Kyphosis, Flexion contracture, High palate, S... |
ORPHA:178148 |
| Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Dental crowding, Long nose, Downturned corners of mouth, High palate, Medial flaring of the eyebr... |
OMIM:617602 |
| Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome |
|
Plagiocephaly, Agenesis of corpus callosum, Macrocephaly |
ORPHA:459074 |
| Jacobsen Syndrome |
|
Short neck, Abnormal form of the vertebral bodies, Pachygyria, Agenesis of corpus callosum, Broad... |
ORPHA:2308 |
| 8P23.1 Microdeletion Syndrome |
|
Hypospadias, Prominent nasal bridge, Microcephaly, Short neck, Cryptorchidism, Patent ductus arte... |
ORPHA:251071 |
| Juvenile Amyotrophic Lateral Sclerosis |
|
Cachexia, Microcephaly, Upper-limb joint contracture, Lower-limb joint contracture, Scoliosis |
ORPHA:300605 |
| Craniotelencephalic Dysplasia |
|
Absent septum pellucidum, Optic nerve hypoplasia, Craniosynostosis, Frontal encephalocele, Lissen... |
OMIM:218670 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Midface retrusion, Cerebellar vermis hypoplasia, Sacral dimple, Multiple joint contractures, Cong... |
OMIM:618291 |
| Congenital Disorder Of Glycosylation, Type Iiw |
|
Microcytic anemia, Micrognathia, Hepatic steatosis, Hepatomegaly, Elevated circulating aspartate ... |
OMIM:619525 |
| Diamond-Blackfan Anemia 7 |
|
Osteopenia, Macrocytic anemia, Choanal atresia, Short thumb, Patent ductus arteriosus, Osteoporos... |
OMIM:612562 |
| Raine Syndrome |
|
Mandibular prognathia, Cerebral calcification, Micromelia, Short neck, Micrognathia, Brachycephal... |
OMIM:259775 |
| X-Linked Creatine Transporter Deficiency |
|
Cachexia, Microcephaly, Joint hyperflexibility, Malar flattening, Open mouth |
ORPHA:52503 |
| Tuberculosis |
|
Abnormal lung morphology, Weight loss |
ORPHA:3389 |
| 45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Bifid scrotum, Micrognathia, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, S... |
ORPHA:1772 |
| Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
|
Limitation of joint mobility, Upper limb undergrowth, Short foot, Concave nasal ridge, Dolichocep... |
ORPHA:166277 |
| Familial Congenital Mirror Movements |
|
Agenesis of corpus callosum, Hypogonadotropic hypogonadism, Abnormal corticospinal tract morpholo... |
ORPHA:238722 |
| Osteogenesis Imperfecta, Type V |
|
Osteopenia, Hyperextensibility of the finger joints, Wormian bones, Recurrent fractures, Vertebra... |
OMIM:610967 |
| Dworschak-Punetha Neurodevelopmental Syndrome |
|
Depressed nasal bridge, Microcephaly, Short neck, Dysplastic corpus callosum, Colpocephaly, Micro... |
OMIM:619955 |
| Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
|
Osteopenia, Anteverted nares, Broad nasal tip, Osteoporosis, Cerebellar hypoplasia |
ORPHA:529665 |
| Obesity Due To Prohormone Convertase I Deficiency |
|
Hypopigmentation of the skin, Decreased response to growth hormone stimulation test, Hyperinsulin... |
ORPHA:71528 |
| Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Hypopigmentation of the skin, Decreased response to growth hormone stimulation test, Hyperinsulin... |
ORPHA:71526 |
| Werner Syndrome |
|
Low back pain, Diabetes mellitus, Elevated hemoglobin A1c, Elevated circulating aspartate aminotr... |
OMIM:277700 |
| Holoprosencephaly 7 |
|
Flat occiput, Partial agenesis of the corpus callosum, Synophrys, Hypoplasia of the brainstem, Hy... |
OMIM:610828 |
| Achondroplasia |
|
Hip joint hypermobility, Parietal bossing, Lumbar hyperlordosis, Depressed nasal bridge, Antevert... |
ORPHA:15 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... |
ORPHA:90793 |
| Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome |
|
Prominent nasal bridge, Choanal atresia, Short neck, Pectus excavatum, Patent ductus arteriosus, ... |
ORPHA:52055 |
| Autosomal Recessive Robinow Syndrome |
|
Hypoplasia of penis, Tented upper lip vermilion, Short neck, Micrognathia, Orofacial cleft, Downt... |
ORPHA:1507 |
| Obesity Due To Congenital Leptin Deficiency |
|
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Recu... |
ORPHA:66628 |
| Wiedemann-Rautenstrauch Syndrome |
|
Thickened calvaria, Osteopenia, Decreased response to growth hormone stimulation test, Synophrys,... |
ORPHA:3455 |
| Glycine Encephalopathy 1 |
|
Agenesis of corpus callosum |
OMIM:605899 |
| Bosma Arhinia Microphthalmia Syndrome |
|
Paranasal sinus hypoplasia, Hypogonadotropic hypogonadism, Hypospadias, Choanal atresia, Cryptorc... |
OMIM:603457 |
| Zttk Syndrome |
|
Unilateral lung agenesis, Hypoplasia of the maxilla, Flexion contracture, Hemivertebrae, Downturn... |
OMIM:617140 |
| Aneurysm-Osteoarthritis Syndrome |
|
Osteoarthritis, Knee osteoarthritis, High palate, Bifid uvula, Joint laxity, Patent ductus arteri... |
ORPHA:284984 |
| Livedoid Vasculopathy |
|
Pancytopenia, Diabetes mellitus, Hyperpigmentation of the skin, Enlargement of the ankles, Leukoc... |
ORPHA:542643 |
| Chromosome 1P36 Deletion Syndrome, Distal |
|
Synophrys, Depressed nasal ridge, Brachycephaly, Orofacial cleft, Abnormal lung lobation, High pa... |
OMIM:607872 |
| Sarcoidosis, Susceptibility To, 1 |
|
Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Mediastinal lymphadenopath... |
OMIM:181000 |
| Geroderma Osteodysplastica |
|
Mandibular prognathia, Recurrent fractures, Vertebral compression fracture, Osteoporosis, Abnorma... |
ORPHA:2078 |
| Bruck Syndrome |
|
Recurrent fractures, Joint stiffness, Kyphosis, Osteoporosis, Platyspondyly, Scoliosis, Wormian b... |
ORPHA:2771 |
| Anauxetic Dysplasia 3 |
|
Beaking of vertebral bodies, Sparse scalp hair, Recurrent respiratory infections, Short metacarpa... |
OMIM:618853 |
| Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Recurrent respiratory infections, Atelectasis, Bronchiectasis, Lissencephaly, Hypoplasia of the c... |
OMIM:619466 |
| Estrogen Resistance Syndrome |
|
Osteopenia, Abnormality of the pubic hair, Enlarged polycystic ovaries, Increased circulating gon... |
ORPHA:785 |
| Peroxisome Biogenesis Disorder 3B |
|
Hepatomegaly, Osteoporosis, Depressed nasal ridge, Malar flattening, Failure to thrive |
OMIM:266510 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Recu... |
ORPHA:179494 |
| Saethre-Chotzen Syndrome |
|
Proximal radio-ulnar synostosis, Depressed nasal bridge, Prominent nasal bridge, Abnormal hair pa... |
ORPHA:794 |
| 3C Syndrome |
|
Hypoplasia of penis, Adrenal hypoplasia, Short neck, Micrognathia, High, narrow palate, Hemiverte... |
ORPHA:7 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Hypoketotic hypoglycemia, Dilated cardiomyopathy, Cardiomegaly |
OMIM:600649 |
| Coffin-Siris Syndrome 11 |
|
Frontal bossing, Prominent metopic ridge, Depressed nasal bridge, Cleft soft palate, Bulbous nose... |
OMIM:618779 |
| Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Abnormality of retinal pigmentation, Anteverted nares, Cachexia, Abnormality of the thyroid gland... |
ORPHA:1969 |
| Revesz Syndrome |
|
Abnormality of chromosome stability, Cerebral calcification, Aplastic anemia, Nail pits, Fine hai... |
OMIM:268130 |
| Prader-Willi Syndrome Due To Imprinting Mutation |
|
Hypopigmentation of hair, Hypogonadotropic hypogonadism, External genital hypoplasia, Small hand,... |
ORPHA:177910 |
| Weaver Syndrome |
|
Mandibular prognathia, Short fourth metatarsal, Flat occiput, Sparse hair, Long philtrum, Deep-se... |
OMIM:277590 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Everted upper lip vermilion, Depressed nasal bridge, Prominent nasal bridge, Supernumerary nipple... |
OMIM:619951 |
| Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Osteopenia, Joint laxity, Abnormality of hair texture, Hyperlordosis, Micrognathia, Synophrys, Ab... |
ORPHA:73223 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Brittle hair, Dental crowding, Micrognathia, Flexion contracture, High palate, Sparse hair, Prema... |
OMIM:608612 |
| Horizontal Gaze Palsy With Progressive Scoliosis |
|
Kyphosis, Scoliosis, Short neck |
ORPHA:2744 |
| Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Osteopenia, Thoracic kyphoscoliosis, Thoracic scoliosis, Joint dislocation, Pectus excavatum, Hig... |
ORPHA:1900 |
| Trisomy 10P |
|
Micrognathia, Hemivertebrae, Simplified gyral pattern, Orofacial cleft, High palate, Abnormal hip... |
ORPHA:171929 |
| Neu-Laxova Syndrome 1 |
|
Micromelia, Short neck, Micrognathia, Swollen lip, Depressed nasal ridge, Neonatal death, Pterygi... |
OMIM:256520 |
| Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Hepatomegaly, Osteoporosis, Rickets, Mottled pigmentation of photoexposed areas, Pigmentary retin... |
OMIM:560000 |
| Waardenburg Syndrome Type 1 |
|
Mandibular prognathia, Tented upper lip vermilion, Synophrys, White hair, Premature graying of ha... |
ORPHA:894 |
| Analbuminemia |
|
Recurrent lower respiratory tract infections, Patent ductus arteriosus, Osteoporosis |
OMIM:616000 |
| Calvarial Doughnut Lesions With Bone Fragility |
|
Osteopenia, Recurrent fractures, Carious teeth, Osteoporosis, Platyspondyly, Scoliosis, Thickened... |
OMIM:126550 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hypoglycemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic ketoacidosis, Fasti... |
OMIM:262190 |
| Monosomy 18P |
|
Alopecia, Kyphoscoliosis, Microcephaly, Short neck, Pectus excavatum, Micrognathia, Carious teeth... |
ORPHA:1598 |
| Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Alopecia, Turricephaly, Abnormal dental enamel morphology, Prominent nose, Microcephaly, Kyphosis... |
ORPHA:1005 |
| Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Short neck, Deep philtrum, Knee flexion contracture, Microdontia, Agenesis of corpus callosum, Cr... |
OMIM:619194 |
| Idiopathic Achalasia |
|
Recurrent aspiration pneumonia, Bronchitis, Weight loss |
ORPHA:930 |
| Osteopetrosis, Autosomal Recessive 3 |
|
Extramedullary hematopoiesis, Cerebral calcification, Basal ganglia calcification, Cranial hypero... |
OMIM:259730 |
| Huntington Disease-Like 2 |
|
Caudate atrophy, Weight loss, Abnormal cerebral morphology, Cerebral cortical atrophy, Abnormal c... |
ORPHA:98934 |
| Cranioectodermal Dysplasia 2 |
|
Cholangitis, Short neck, Micrognathia, Fused teeth, High palate, Widely spaced teeth, Sparse hair... |
OMIM:613610 |
| Hypomelanosis Of Ito |
|
Alopecia, Microcephaly, Kyphosis, Macular hypopigmented whorls, streaks, and patches, Thick lower... |
OMIM:300337 |
| Pearson Marrow-Pancreas Syndrome |
|
Elevated hepatic transaminase, Sideroblastic anemia, Pancytopenia, Hepatomegaly, Small for gestat... |
OMIM:557000 |
| Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Thrombocytopenia, Leukocytosis, Anterior open-bite malocclusion, Abnormal cerebral white matter m... |
ORPHA:83601 |
| Leopard Syndrome 1 |
|
Mandibular prognathia, Limited elbow movement, Short neck, Depressed nasal ridge, Aplasia of the ... |
OMIM:151100 |
| Prolidase Deficiency |
|
Hepatomegaly, Abnormality of retinal pigmentation, Recurrent respiratory infections, Depressed na... |
ORPHA:742 |
| 3M Syndrome |
|
Congenital hip dislocation, Micromelia, Short neck, Increased vertebral height, Long philtrum, Hy... |
ORPHA:2616 |
| Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Mandibular prognathia, Limitation of movement at ankles, Hypopigmentation of hair, Flat occiput, ... |
ORPHA:98794 |
| Distal Triplication 15Q |
|
Abnormal external genitalia, Craniosynostosis, Large for gestational age, Micrognathia, Kyphosis,... |
ORPHA:314588 |
| Coffin-Siris Syndrome 12 |
|
Micrognathia, Synophrys, Low anterior hairline, Hippocampal atrophy, High palate, Hypothyroidism,... |
OMIM:619325 |
| Transcobalamin Ii Deficiency |
|
Hepatomegaly, Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Megalobla... |
OMIM:275350 |
| Menkes Disease |
|
Hypopigmentation of hair, Osteomyelitis, Wormian bones, Recurrent fractures, Tarsal synostosis, M... |
ORPHA:565 |
| Aymé-Gripp Syndrome |
|
Brachycephaly, Oligodontia, Prominent metopic ridge, Depressed nasal bridge, Cryptorchidism, Pate... |
ORPHA:1272 |
| 20Q11.2 Microduplication Syndrome |
|
Bifid scrotum, Tented upper lip vermilion, Brachycephaly, Short palm, Abnormal nasal bridge morph... |
ORPHA:363659 |
| Acquired Hypertrichosis Lanuginosa |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Weight loss, Fine hair, Ovarian neoplasm, ... |
ORPHA:2221 |
| Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Pancytopenia, Cerebral atrophy, Abnormal cerebral white matter morphology, Gliosis, Cerebral edema |
OMIM:618321 |
| Vitamin D-Dependent Rickets, Type 2A |
|
Delayed eruption of teeth, Frontal bossing, Thin bony cortex, Flat occiput, Enlargement of the an... |
OMIM:277440 |
| Wilson Disease |
|
Back pain, Hepatomegaly, Acute hepatic failure, Elevated hepatic transaminase, Abnormality of the... |
ORPHA:905 |
| Jaberi-Elahi Syndrome |
|
Brittle hair, Depressed nasal bridge, Sparse eyelashes, Joint hypermobility, Microcephaly, Sparse... |
OMIM:617988 |
| 9Q33.3Q34.11 Microdeletion Syndrome |
|
Small scrotum, Short neck, Brachycephaly, Patellar hypoplasia, Abnormal periventricular white mat... |
ORPHA:495818 |
| Cockayne Syndrome Type 2 |
|
Mandibular prognathia, Hepatomegaly, Hypermelanotic macule, Delayed eruption of primary teeth, Ky... |
ORPHA:90322 |
| Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, Weight loss, Abnormal bone marrow cell morphology |
ORPHA:86893 |
| Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects |
|
Mandibular prognathia, Osteopenia, Cerebellar vermis hypoplasia, Dental crowding, Knee dislocatio... |
OMIM:620083 |
| Lathosterolosis |
|
Hypoplasia of penis, Cerebral calcification, Micrognathia, Downturned corners of mouth, High pala... |
ORPHA:46059 |
| Kleefstra Syndrome 1 |
|
Mandibular prognathia, U-Shaped upper lip vermilion, Natal tooth, Recurrent respiratory infection... |
OMIM:610253 |
| Alexander Disease |
|
Osteopenia, Frontal bossing, Cerebral calcification, Diabetes mellitus, Megalencephaly, Precociou... |
ORPHA:58 |
| Congenital Disorder Of Deglycosylation 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Recurrent respiratory infections, Anteverted nares, ... |
OMIM:615273 |
| Gaucher Disease Type 3 |
|
Hepatomegaly, Pancytopenia, Recurrent respiratory infections, Increased bone mineral density, Spl... |
ORPHA:77261 |
| Chromosome 17P13.1 Deletion Syndrome |
|
Diffuse cerebral atrophy, Short neck, High, narrow palate, Synophrys, Low anterior hairline, Brac... |
OMIM:613776 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Osteopenia, Dental crowding, Convex nasal ridge, Micrognathia, Flexion contracture, High palate, ... |
OMIM:248370 |
| Tietz Syndrome |
|
Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, White e... |
ORPHA:42665 |
| X-Linked Agammaglobulinemia |
|
Alopecia, Sinusitis, Osteomyelitis, Abnormality of the tonsils, Thrombocytopenia, Abnormal lung m... |
ORPHA:47 |
| Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Cerebral white matter atrophy, Microcephaly, Puberty and gonadal disorders, Kyphosis, Hip disloca... |
ORPHA:464282 |
| Gabriele-De Vries Syndrome |
|
Decreased response to growth hormone stimulation test, Micrognathia, High palate, Gliosis, Finger... |
ORPHA:506358 |
| Autosomal Recessive Spastic Paraplegia Type 53 |
|
Microcephaly, Kyphosis, Cortical dysplasia, Joint hyperflexibility, Failure to thrive |
ORPHA:319199 |
| Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability |
|
Hyperlordosis, Spinal rigidity, Kyphosis, Microcephaly, Scoliosis |
OMIM:617404 |
| Mucopolysaccharidosis, Type Vii |
|
Short neck, Flexion contracture, Coarse hair, Widely spaced teeth, Anterior beaking of lumbar ver... |
OMIM:253220 |
| Smith-Lemli-Opitz Syndrome |
|
Hypoplasia of penis, Short neck, Micrognathia, Abnormal lung lobation, Abnormal form of the verte... |
ORPHA:818 |
| Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Osteopenia, Alopecia, Diabetes mellitus, Adrenal hyperplasia, Osteoporosis, Increased body weight... |
OMIM:615830 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Micrognathia, Epispadias, Abnormality of skin pigmentation, Abnormal fallopian tube morphology, A... |
ORPHA:2556 |
| Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Optic nerve hypoplasia, Microcephaly, Dysplastic corpus callosum, Narrow mouth, Flexion contractu... |
OMIM:614833 |
| Fibrochondrogenesis 1 |
|
Short neck, Hypoplastic toenails, Short palm, Widely patent sagittal suture, Posterior vertebral ... |
OMIM:228520 |
| Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Hyperconvex fingernails, Subcortical cerebral atrophy, Sparse hair, Abnormal vertebral morphology... |
ORPHA:2273 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Dental crowding, Prominent nose, High, narrow palate, Pineal cyst, Increased head circumference, ... |
OMIM:300967 |
| Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Conical tooth, Persistence of primary teeth, Scarring alopecia of scalp, Dental malocclusion, Wid... |
OMIM:618727 |
| Tenosynovial Giant Cell Tumor |
|
Abnormal hip joint morphology, Abnormality of the knee, Joint stiffness, Polyarticular arthropath... |
ORPHA:66627 |
| Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Cryptorchidism, Anosmi... |
OMIM:614841 |
| Icf Syndrome |
|
Recurrent respiratory infections, Abnormality of chromosome stability, Depressed nasal bridge, Ab... |
ORPHA:2268 |
| Premature Aging Syndrome, Okamoto Type |
|
Diabetes mellitus, Depressed nasal bridge, Microcephaly, Abnormal hair morphology, Osteoporosis |
OMIM:601811 |
| Fibrosis Of Extraocular Muscles, Congenital, 3C |
|
Pectus excavatum, Kyphosis, Thin upper lip vermilion, Highly arched eyebrow |
OMIM:609384 |
| Osteomesopyknosis |
|
Increased bone mineral density, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebra... |
ORPHA:2777 |
| 16P13.11 Microdeletion Syndrome |
|
Thin upper lip vermilion, Anteverted nares, Depressed nasal bridge, Exaggerated cupid's bow, Micr... |
ORPHA:261236 |
| Dyskeratosis Congenita, Autosomal Recessive 3 |
|
Pancytopenia, Squamous cell carcinoma of the tongue, Abnormality of skin pigmentation, Bone marro... |
OMIM:613988 |
| Hennekam-Beemer Syndrome |
|
Wide nose, Generalized hyperpigmentation, Pneumonia, Camptodactyly of finger, Microcephaly, Long ... |
ORPHA:2135 |
| Kallmann Syndrome-Heart Disease Syndrome |
|
Osteopenia, Hypogonadotropic hypogonadism, Short lingual frenulum, Partial anosmia, Total anosmia... |
ORPHA:2326 |
| Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome |
|
Wormian bones, Recurrent fractures |
ORPHA:2773 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Mandibular prognathia, Prominent nasal bridge, Pectus excavatum, Kyphosis, Hypoplasia of the maxi... |
OMIM:300676 |
| Pyruvate Dehydrogenase E1-Beta Deficiency |
|
Periventricular cysts, Hypoplasia of the brainstem, Abnormal calvaria morphology, Cerebellar hypo... |
ORPHA:255138 |
| Bethlem Myopathy 2 |
|
Kyphosis, Distal joint laxity, Flexion contracture, Hip dislocation, Scoliosis |
OMIM:616471 |
| Weiss-Kruszka Syndrome |
|
Prominent metopic ridge, Anteverted nares, Exaggerated cupid's bow, Highly arched eyebrow, Colpoc... |
OMIM:618619 |
| Galactose Epimerase Deficiency |
|
Hepatomegaly, Splenomegaly, Jaundice, Weight loss |
ORPHA:79238 |
| Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome |
|
Lumbar hyperlordosis, Camptodactyly of finger, Wrist swelling, Polyarticular arthropathy, Bone cy... |
ORPHA:2848 |
| Wieacker-Wolff Syndrome, Female-Restricted |
|
Microretrognathia, Hip contracture, Anteverted nares, Short neck, Microcephaly, Kyphosis, Achille... |
OMIM:301041 |
| Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome |
|
Splenomegaly, Pancytopenia |
OMIM:614979 |
| Marbach-Rustad Progeroid Syndrome |
|
Wormian bones, Convex nasal ridge, Delayed eruption of primary teeth, Micrognathia, Microcephaly,... |
OMIM:619322 |
| Orofaciodigital Syndrome V |
|
Frontal bossing, Thin upper lip vermilion, Median cleft lip, Unilateral cryptorchidism, Recurrent... |
OMIM:174300 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Hypoplasia of the maxilla, Hip dislocation, Brachycephaly, Abnormality of the vertebral column, M... |
OMIM:109120 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Occipital encephalocele, Lumbar hyperlordosis, Optic nerve hypoplasia, Olivopontocerebellar hypop... |
ORPHA:370959 |
| Cowden Syndrome 1 |
|
Micrognathia, Hypoplasia of the maxilla, Palmoplantar hyperkeratosis, High palate, Hypothyroidism... |
OMIM:158350 |
| Baralle-Macken Syndrome |
|
Microcephaly, Kyphosis, High, narrow palate, Obesity, Global brain atrophy, Cafe-au-lait spot, Hi... |
OMIM:619255 |
| Brain Malformations With Or Without Urinary Tract Defects |
|
Thin upper lip vermilion, Anteverted nares, Narrow mouth, Hypoplasia of the corpus callosum, Macr... |
OMIM:613735 |
| Refractory Celiac Disease |
|
Normocytic anemia, Elevated hepatic transaminase, Macrocytic anemia, Microcytic anemia, Increased... |
ORPHA:398063 |
| Arthrogryposis, Distal, Type 4 |
|
Osteopenia, Depressed nasal bridge, Kyphosis, Cranial asymmetry, Low anterior hairline, Low poste... |
OMIM:609128 |
| Marden-Walker Syndrome |
|
Micrognathia, Epispadias, Abnormal form of the vertebral bodies, Agenesis of corpus callosum, Bif... |
ORPHA:2461 |
| Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Mandibular prognathia, Hypopigmentation of hair, Cessation of head growth, Obesity, Wide mouth, H... |
ORPHA:411515 |
| Aregenerative Anemia |
|
Pancytopenia, Erythroid hypoplasia, Abnormal bone marrow cell morphology, Reticulocytopenia, Lymp... |
ORPHA:101096 |
| Agnathia-Otocephaly Complex |
|
Wide nose, Tracheomalacia, Micrognathia, Aglossia, Cleft palate, Pulmonary hypoplasia, Narrow mou... |
OMIM:202650 |
| Laryngeal Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy, Adrenocorticotropic hormone excess, Weight loss, Increased... |
ORPHA:100083 |
| Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Myelofibrosis, Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lympho... |
OMIM:301078 |
| Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome |
|
Short metacarpal, Microcephaly, Partial agenesis of the corpus callosum, Neuronal loss in the cer... |
ORPHA:86822 |
| Microhydranencephaly |
|
Multiple joint contractures, Prominent nasal bridge, Microcephaly, Hypoplasia of the brainstem, C... |
OMIM:605013 |
| Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Relative macrocephaly, Cerebral white matter atrophy, Failure to thrive, Microcephaly, Overweight... |
ORPHA:500055 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia1 |
|
Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora... |
OMIM:204700 |
| Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis |
|
Osteoporosis |
OMIM:204730 |
| Pfapa Syndrome |
|
Hepatomegaly, Splenomegaly, Recurrent pharyngitis, Lymphadenopathy, Weight loss, Arthritis, Abnor... |
ORPHA:42642 |
| Orofaciodigital Syndrome Type 5 |
|
Frontal bossing, Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral... |
ORPHA:2919 |
| Distal Deletion 12Q |
|
Short neck, Micrognathia, High, narrow palate, Biliary atresia, Brachycephaly, Micropenis, Long p... |
ORPHA:96149 |
| Wrinkly Skin Syndrome |
|
Osteopenia, Cerebellar vermis hypoplasia, Congenital hip dislocation, Generalized joint laxity, H... |
ORPHA:2834 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Decreased response to growth hormone stimulation test, Micrognathia, Hypoplastic toenails, Synoph... |
ORPHA:444077 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Hypoglycemia, Cardiomegaly |
OMIM:618838 |
| Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Prominent nose, Brachycephaly, Bifid uvula, Dandy-Walker malformation, Joint laxity, Depressed na... |
OMIM:300968 |
| Idiopathic Congenital Hypothyroidism |
|
Large posterior fontanelle, Depressed nasal bridge, Delayed proximal femoral epiphyseal ossificat... |
ORPHA:95717 |
| Fgfr2-Related Bent Bone Dysplasia |
|
Osteopenia, Natal tooth, Clitoral hypertrophy, Extramedullary hematopoiesis, Micrognathia, Incomp... |
ORPHA:313855 |
| Myasthenic Syndrome, Congenital, 25, Presynaptic |
|
Spinal rigidity, Kyphosis, Flexion contracture, Scoliosis, Joint hypermobility |
OMIM:618323 |
| 2Q31.1 Microdeletion Syndrome |
|
Short neck, Micrognathia, Hypoplastic toenails, Synophrys, Deep philtrum, Low anterior hairline, ... |
ORPHA:251014 |
| Metatropic Dysplasia |
|
Relatively short spine, Enlarged joints, Depressed nasal bridge, Kyphoscoliosis, Abnormal enchond... |
OMIM:156530 |
| Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased urinary cortisol level, Hepatic steatosis, Alopecia, Abnormal response to corticotropin... |
ORPHA:189427 |
| Kleefstra Syndrome Due To A Point Mutation |
|
Natal tooth, Microcephaly, Precocious puberty, Large for gestational age, Abnormality of the dent... |
ORPHA:261652 |
| Walker-Warburg Syndrome |
|
Hypoplasia of penis, Absent septum pellucidum, Abnormal cortical gyration, Microcephaly, Cryptorc... |
ORPHA:899 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
Osteopenia, Cerebellar vermis hypoplasia, Flat occiput, Short neck, High, narrow palate, Synophry... |
OMIM:300966 |
| Corpus Callosum, Partial Agenesis Of, X-Linked |
|
Microcephaly, Partial agenesis of the corpus callosum, High palate, Cerebellar hypoplasia, Hypopl... |
OMIM:304100 |
| Idiopathic Aplastic Anemia |
|
Pancytopenia, Epistaxis, Thrombocytopenia, Reticulocytopenia, Bone marrow hypocellularity, Gingiv... |
ORPHA:88 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8 |
|
Hip contracture, Hyperlordosis, Kyphosis, Elbow flexion contracture, Knee flexion contracture, Sc... |
OMIM:600175 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Elevated hepatic transaminase, Hepatomegaly, Intracerebral periventricular calcifications, Elevat... |
OMIM:608836 |
| Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Kyphosis, Scoliosis |
OMIM:617087 |
| Intellectual Developmental Disorder, Autosomal Dominant 22 |
|
Thin upper lip vermilion, Depressed nasal bridge, Highly arched eyebrow, Microcephaly, Long nose,... |
OMIM:612337 |
| Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Small for gestational age, Kyphoscoliosis, Cryptorchidism, Kyphosis, Flexion contracture, Scolios... |
OMIM:618484 |
| Hemimegalencephaly |
|
Pachygyria, Cranial asymmetry, Hemimegalencephaly, Gliosis, Macrocephaly, Hyperintensity of cereb... |
ORPHA:99802 |
| Ovarian Dysgenesis 8 |
|
Eunuchoid habitus, Elevated circulating luteinizing hormone level, Osteoporosis, Primary amenorrh... |
OMIM:618187 |
| Primary Sclerosing Cholangitis |
|
Acute hepatic failure, Osteopenia, Abnormal eosinophil morphology, Hepatic fibrosis, Neoplasm of ... |
ORPHA:171 |
| Thanatophoric Dysplasia Type 2 |
|
Encephalocele, Frontal bossing, Cloverleaf skull, Depressed nasal bridge, Micromelia, Kyphosis, P... |
ORPHA:93274 |
| Joubert Syndrome With Renal Defect |
|
Encephalocele, Cerebellar vermis hypoplasia, Anteverted nares, Prominent nasal bridge, Highly arc... |
ORPHA:220497 |
| Congenital Muscular Dystrophy, Ullrich Type |
|
Spinal rigidity, Micrognathia, Kyphosis, Short neck, Flexion contracture, Elbow flexion contractu... |
ORPHA:75840 |
| Fountain Syndrome |
|
Craniofacial hyperostosis, Short distal phalanx of finger, Spina bifida, Pectus excavatum, Kyphos... |
ORPHA:3219 |
| Immunodeficiency 27A |
|
Hypoplasia of the femoral head, Pneumonia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Weight... |
OMIM:209950 |
| Joubert Syndrome With Ocular Defect |
|
Encephalocele, Cerebellar vermis hypoplasia, Anteverted nares, Prominent nasal bridge, Highly arc... |
ORPHA:220493 |
| Aplastic Anemia |
|
Aplastic anemia, Bone marrow hypocellularity |
OMIM:609135 |
| Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Prominent metopic ridge, Anteverted nares, Optic nerve hypoplasia, Olivopontocerebellar hypoplasi... |
ORPHA:457284 |
| Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Neonatal death, Kyphosis, Failure to thrive, Flexion contracture |
OMIM:618237 |
| Amelogenesis Imperfecta, Type Ic |
|
Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati... |
OMIM:204650 |
| Tsh-Secreting Pituitary Adenoma |
|
Osteopenia, Elevated circulating thyroid-stimulating hormone concentration, Male hypogonadism, Hy... |
ORPHA:91347 |
| Acth-Independent Macronodular Adrenal Hyperplasia |
|
Osteopenia, Adrenal hyperplasia, Kyphosis, Decreased circulating ACTH concentration, Osteoporosis... |
OMIM:219080 |
| Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Mandibular prognathia, Vertebral fusion, Vaginal hernia, Macrodontia, Abnormal dental enamel morp... |
ORPHA:2916 |
| 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Abnormality of the vertebral column, Failure to thrive, Agenesis of corpus callosum, Abnormal ver... |
OMIM:250620 |
| Grubben-De Cock-Borghgraef Syndrome |
|
Partial agenesis of the corpus callosum, Abnormality of the dentition, Small hand, Short neck |
ORPHA:2101 |
| Cdkl5-Deficiency Disorder |
|
Kyphosis, Synophrys, Deep philtrum, Thick vermilion border, Everted lower lip vermilion, Scoliosis |
ORPHA:505652 |
| Neurodevelopmental Disorder With Seizures And Brain Abnormalities |
|
Thin upper lip vermilion, Tented upper lip vermilion, Microcephaly, Retinal pigment epithelial mo... |
OMIM:619517 |
| Xp21 Deletion Syndrome |
|
Joint laxity, Hypogonadotropic hypogonadism, Primary adrenal insufficiency, Osteoporosis, Reduced... |
ORPHA:261476 |
| Septo-Optic Dysplasia Spectrum |
|
Hypoplasia of penis, Septo-optic dysplasia, Diabetes insipidus, Absent septum pellucidum, Optic n... |
ORPHA:3157 |
| Amelogenesis Imperfecta, Type Ih |
|
Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena... |
OMIM:616221 |
| Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Osteopenia, Congenital kyphoscoliosis, Congenital hip dislocation, Kyphoscoliosis, Micrognathia, ... |
ORPHA:536545 |
| Microphthalmia, Syndromic 3 |
|
Frontal bossing, Vertebral fusion, Hypogonadotropic hypogonadism, Hypospadias, Optic nerve hypopl... |
OMIM:206900 |
| Tetrasomy 5P |
|
Pericallosal lipoma, Recurrent respiratory infections, Anteverted nares, Short hallux, Short neck... |
ORPHA:3309 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
|
Hip contracture, Hyperlordosis, Pectus excavatum, Kyphosis, Achilles tendon contracture, Knee fle... |
OMIM:615290 |
| Genitopalatocardiac Syndrome |
|
Hypospadias, Microcephaly, Micrognathia, Cryptorchidism, Male pseudohermaphroditism, Kyphosis, Ab... |
ORPHA:2075 |
| Marshall-Smith Syndrome |
|
Anteverted nares, Choanal atresia, Craniosynostosis, Protruding tongue, Gingival overgrowth, Retr... |
ORPHA:561 |
| Pituitary Adenoma 4, Acth-Secreting |
|
Kyphosis, Pituitary adenoma, Osteoporosis, Obesity, Increased circulating ACTH level, Abdominal o... |
OMIM:219090 |
| Down Syndrome |
|
Short neck, Depressed nasal ridge, Brachycephaly, Abnormality of the fontanelles or cranial sutur... |
ORPHA:870 |
| Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Hypopigmentation of hair, Depressed nasal bridge, Anteverted nares, Microcephaly, Cryptorchidism,... |
ORPHA:2719 |
| Sifrim-Hitz-Weiss Syndrome |
|
Wormian bones, Hypogonadotropic hypogonadism, Trigonocephaly, Cryptorchidism, Patent ductus arter... |
OMIM:617159 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Delayed eruption of teeth, Frontal bossing, Enlargement of the ankles, Flat occiput, Wide cranial... |
ORPHA:289157 |
| Crimean-Congo Hemorrhagic Fever |
|
Stiff neck, Leukopenia, Cholecystitis, Hepatomegaly, Neutrophilia, Leukocytosis, Epididymitis, Ly... |
ORPHA:99827 |
| Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome |
|
Thin upper lip vermilion, Unilateral cryptorchidism, Optic nerve hypoplasia, Large for gestationa... |
ORPHA:137634 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Mandibular prognathia, Hyperparathyroidism, Flat occiput, Dental crowding, Micrognathia, Deep phi... |
ORPHA:534 |
| Cole-Carpenter Syndrome 1 |
|
Osteopenia, Frontal bossing, Wormian bones, Recurrent fractures, Micrognathia, Dentinogenesis imp... |
OMIM:112240 |
| Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Smooth philtrum, Alopecia, Optic nerve hypoplasia, Convex nasal ridge, Microcephaly, Cleft soft p... |
OMIM:619321 |
| Trisomy 9P |
|
Sacral dimple, Dental crowding, Short neck, Abnormal nasal morphology, Microcephaly, Kyphosis, No... |
ORPHA:236 |
| Stickler Syndrome, Type I |
|
Arthropathy, Micrognathia, Osteoarthritis, Bifid uvula, Depressed nasal bridge, Anteverted nares,... |
OMIM:108300 |
| Ritscher-Schinzel Syndrome 2 |
|
Relative macrocephaly, Camptodactyly of finger, Protruding tongue, Cryptorchidism, Patent ductus ... |
OMIM:300963 |
| Monosomy 22Q13.3 |
|
Sacral dimple, Dental crowding, Malar flattening, Dolichocephaly, Hypoplastic toenails, Bulbous n... |
ORPHA:48652 |
| Polycythemia Vera |
|
Myelofibrosis, Hepatomegaly, Epistaxis, Portal hypertension, Portal vein thrombosis, Splenomegaly... |
ORPHA:729 |
| Alstrom Syndrome |
|
Chronic active hepatitis, Decreased response to growth hormone stimulation test, Gingivitis, Hepa... |
OMIM:203800 |
| Melnick-Needles Syndrome |
|
Delayed eruption of teeth, Frontal bossing, Craniofacial hyperostosis, Recurrent respiratory infe... |
ORPHA:2484 |
| Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Microretrognathia, Thin upper lip vermilion, Prominent nasal bridge, Craniosynostosis, Broad nasa... |
ORPHA:457193 |
| Aicardi Syndrome |
|
Partial agenesis of the corpus callosum, Abnormality of skin pigmentation, Short philtrum, Hepato... |
ORPHA:50 |
| Hemophagocytic Syndrome Associated With An Infection |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Abnormal T cell subset d... |
ORPHA:158048 |
| Isolated Follicle Stimulating Hormone Deficiency |
|
Gonadotropin deficiency, Decreased serum estradiol, Male hypogonadism, Hypogonadotropic hypogonad... |
ORPHA:52901 |
| Spinocerebellar Ataxia 23 |
|
Agenesis of corpus callosum |
OMIM:610245 |
| Autosomal Recessive Kenny-Caffey Syndrome |
|
Microcephaly, Carious teeth, Small hand, Decreased skull ossification, Cortical thickening of lon... |
ORPHA:93324 |
| Noonan Syndrome 14 |
|
Curly hair, Prominent nasal bridge, Short neck, Sparse eyebrow, Cryptorchidism, Kyphosis, Pectus ... |
OMIM:619745 |
| Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Hypoplasia of penis, Aplasia/Hypoplasia involving the nose, Absent nares, Narrow mouth, Aplasia/H... |
ORPHA:990 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Megakaryocytopenia, Amegakaryocytic thrombocytopenia, Proximal radio-ulnar synostosis, Aplastic a... |
OMIM:605432 |
| Genitopatellar Syndrome |
|
Small scrotum, Congenital hip dislocation, Prominent nose, Micrognathia, Knee flexion contracture... |
OMIM:606170 |
| Lysosomal Acid Lipase Deficiency |
|
Elevated hepatic transaminase, Fatal liver failure in infancy, Adrenal calcification, Cachexia, B... |
ORPHA:275761 |
| Meningioma |
|
Back pain, Decreased circulating cortisol level, Reduced circulating prolactin concentration, Neo... |
ORPHA:2495 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Bifid scrotum, Mandibular prognathia, Cerebellar vermis hypoplasia, Dental crowding, Asplenia, Cl... |
ORPHA:261552 |
| Gm1-Gangliosidosis, Type I |
|
Frontal bossing, Hepatomegaly, Short neck, Joint stiffness, Kyphosis, Splenomegaly, Vacuolated ly... |
OMIM:230500 |
| Rhyns Syndrome |
|
Osteopenia, Decreased response to growth hormone stimulation test, Pituitary hypothyroidism, Oste... |
OMIM:602152 |
| 46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,... |
ORPHA:168563 |
| Branchioskeletogenital Syndrome |
|
Mandibular prognathia, Short neck, Hypoplasia of the maxilla, Upper limb peromelia, Synophrys, Br... |
ORPHA:1299 |
| Osteogenesis Imperfecta, Type Xxi |
|
Barrel-shaped chest, Recurrent fractures, Pectus excavatum, Osteoporosis, Platyspondyly, Scoliosi... |
OMIM:619131 |
| Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Microcephaly, Micrognathia, Cleft palate, Hypoplasia of the brainstem, Cerebellar hypoplasia, Pte... |
OMIM:225790 |
| Wilson Disease |
|
Acute hepatic failure, Osteoarthritis, Hepatic steatosis, Hypoparathyroidism, Hemolytic anemia, H... |
OMIM:277900 |
| Muenke Syndrome |
|
Short palm, Hypopigmentation of hair, Hypermelanotic macule, Tarsal synostosis, High, narrow pala... |
ORPHA:53271 |
| Hurler-Scheie Syndrome |
|
Hepatomegaly, Recurrent respiratory infections, Depressed nasal bridge, Camptodactyly of finger, ... |
OMIM:607015 |
| Smith-Mccort Dysplasia 1 |
|
Barrel-shaped chest, Multicentric femoral head ossification, Short metacarpal, Hypoplastic scapul... |
OMIM:607326 |
| Microphthalmia, Syndromic 9 |
|
Micrognathia, Cryptorchidism, Patent ductus arteriosus, Agenesis of pulmonary vessels, Wide nasal... |
OMIM:601186 |
| Tarp Syndrome |
|
Extramedullary hematopoiesis, Micrognathia, Glossoptosis, Anteverted nares, Cryptorchidism, Wide ... |
ORPHA:2886 |
| Dpagt1-Cdg |
|
Elevated hepatic transaminase, Hepatomegaly, Microcephaly, Flexion contracture, Osteoporosis, Ane... |
ORPHA:86309 |
| Angelman Syndrome Due To A Point Mutation |
|
Mandibular prognathia, Hypopigmentation of hair, Flat occiput, Protruding tongue, Cessation of he... |
ORPHA:411511 |
| 1p36 microdeletion syndrome |
|
Delayed cranial suture closure |
DECIPHER:18 |
| Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Congenital hip dislocation, Generalized joint laxity, Coarse hair, High palate, Sparse hair, Emph... |
ORPHA:357074 |
| Mandibuloacral Dysplasia Progeroid Syndrome |
|
Osteopenia, Micrognathia, Flexion contracture, Brachycephaly, Palmoplantar hyperkeratosis, High p... |
OMIM:619127 |
| Poems Syndrome |
|
Sclerosis of hand bone, Diabetes mellitus, Hyperpigmentation of the skin, Polycythemia, Sclerosis... |
ORPHA:2905 |
| Subaortic Stenosis-Short Stature Syndrome |
|
Anteverted nares, Short neck, Micrognathia, Kyphosis, Biliary tract abnormality, Obesity, Type II... |
ORPHA:3191 |
| Mucopolysaccharidosis, Type Ii |
|
Delayed eruption of teeth, Hepatomegaly, Abnormality of retinal pigmentation, Short neck, Kyphosi... |
OMIM:309900 |
| Lysinuric Protein Intolerance |
|
Hepatomegaly, Recurrent fractures, Thrombocytopenia, Splenomegaly, Osteoporosis, Intraalveolar ph... |
OMIM:222700 |
| Familial Thyroid Dyshormonogenesis |
|
Positive perchlorate discharge test, Large posterior fontanelle, Depressed nasal bridge, Thyroid ... |
ORPHA:95716 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
11 pairs of ribs, Hypoplasia of penis, Hypospadias, Cryptorchidism, Patent ductus arteriosus, Hem... |
ORPHA:77298 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Micrognathia, Flexion contracture, Brachycephaly, Oligodontia, High palate, Short philtrum, Micro... |
OMIM:309590 |
| Mowat-Wilson Syndrome |
|
Bifid scrotum, Mandibular prognathia, Cerebellar vermis hypoplasia, Dental crowding, Asplenia, Cl... |
ORPHA:2152 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Circulating nucleated red blood cells, Anisocytosis, Erythroi... |
OMIM:613673 |
| Amelogenesis Imperfecta, Type Iiic |
|
Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yellow-brown discoloration o... |
OMIM:618386 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia2 |
|
Anterior open-bite malocclusion, Hypomature enamel, Amelogenesis imperfecta, Yellow-brown discolo... |
OMIM:612529 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Osteopenia, Downturned corners of mouth, Vertebral segmentation defect, Oligodontia, High palate,... |
ORPHA:453499 |
| Ctcf-Related Neurodevelopmental Disorder |
|
Osteopenia, Synophrys, Short philtrum, Joint contracture of the 5th finger, Microdontia, Antevert... |
ORPHA:363611 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Bifid scrotum, Mandibular prognathia, Cerebellar vermis hypoplasia, Dental crowding, Asplenia, Cl... |
ORPHA:261537 |
| Osteogenesis Imperfecta, Type Xxii |
|
Recurrent fractures, Multiple prenatal fractures, Multiple small vertebral fractures, Reduced bon... |
OMIM:619795 |
| Doors Syndrome |
|
Adrenal hyperplasia, Short lingual frenulum, Low anterior hairline, Brachycephaly, Hemivertebrae,... |
ORPHA:79500 |
| Aicardi Syndrome |
|
Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, Hemivertebrae, Hepatoblast... |
OMIM:304050 |
| Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Reduced cerebral white matter volume, Large for gestational age, Brachycephaly, Palmoplantar hype... |
OMIM:280000 |
| Meier-Gorlin Syndrome 7 |
|
Vertebral segmentation defect, Copper beaten skull, High palate, Micropenis, Dislocated radial he... |
OMIM:617063 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Frontal bossing, Hepatomegaly, Absent septum pellucidum, Abnormal cortical gyration, Aplastic cla... |
ORPHA:2538 |
| Srd5A3-Cdg |
|
Elevated hepatic transaminase, Decreased response to growth hormone stimulation test, Microcytic ... |
ORPHA:324737 |
| Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome |
|
Hypoplasia of the pons, Hip subluxation, Partial agenesis of the corpus callosum, Hypoplasia of t... |
ORPHA:500144 |
| Holoprosencephaly 12 With Or Without Pancreatic Agenesis |
|
Absent gallbladder, Depressed nasal bridge, Absent septum pellucidum, Small for gestational age, ... |
OMIM:618500 |
| Megalocornea-Intellectual Disability Syndrome |
|
Osteopenia, Frontal bossing, Microcephaly, Micrognathia, Kyphosis, Wide nasal bridge, Joint hyper... |
ORPHA:2479 |
| Marinesco-Sjogren Syndrome |
|
Short metacarpal, Hypergonadotropic hypogonadism, Microcephaly, Kyphosis, Flexion contracture, Sh... |
OMIM:248800 |
| Otopalatodigital Syndrome, Type I |
|
Selective tooth agenesis, Absent frontal sinuses, Short 5th metacarpal, Synostosis of carpal bone... |
OMIM:311300 |
| Mandibuloacral Dysplasia |
|
Alopecia, Dental crowding, Delayed cranial suture closure, Micrognathia, Insulin-resistant diabet... |
ORPHA:2457 |
| Leigh Syndrome |
|
Abnormal basal ganglia MRI signal intensity, Alopecia, Neuronal loss in basal ganglia, Multiple j... |
ORPHA:506 |
| Idiopathic Hypereosinophilic Syndrome |
|
Myelofibrosis, Generalized lymphadenopathy, Cholangitis, Neutrophilia, Ankle swelling, Leukocytos... |
ORPHA:3260 |
| Chronic Graft Versus Host Disease |
|
Elevated hepatic transaminase, Alopecia, Pancytopenia, Phimosis, Pneumothorax, Flexion contractur... |
ORPHA:99921 |
| Cornelia De Lange Syndrome 1 |
|
Micromelia, Short neck, Micrognathia, High, narrow palate, Synophrys, Brachycephaly, Downturned c... |
OMIM:122470 |
| Bone Marrow Failure Syndrome 5 |
|
Pure red cell aplasia, Microcephaly, Erythroid hypoplasia, Reticular hyperpigmentation, Hypogonad... |
OMIM:618165 |
| Immunodeficiency 12 |
|
Abnormal lymphocyte count, Osteoporosis, Cheilitis, Bronchiectasis, Recurrent aphthous stomatitis... |
OMIM:615468 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Microcephaly, Flexion contracture, Hypoplasia of the brainstem, Progressive microcephaly, Lissenc... |
OMIM:615249 |
| Contractural Arachnodactyly, Congenital |
|
Osteopenia, Short neck, Micrognathia, Brachycephaly, Knee flexion contracture, High palate, Wrist... |
OMIM:121050 |
| Ritscher-Schinzel Syndrome 3 |
|
Relative macrocephaly, Thin upper lip vermilion, Hypoplasia of the ulna, Cerebellar vermis hypopl... |
OMIM:619135 |
| Restrictive Dermopathy 1 |
|
Adrenal hypoplasia, Micrognathia, Flexion contracture, Neonatal death, Depressed nasal bridge, Hy... |
OMIM:275210 |
| Coach Syndrome 2 |
|
Elevated hepatic transaminase, Cerebellar vermis hypoplasia, Congenital hepatic fibrosis, Portal ... |
OMIM:619111 |
| Cono-Spondylar Dysplasia |
|
Short humerus, Anteverted nares, Short nail, Short lower limbs, Short neck, Kyphosis, Partial age... |
ORPHA:420794 |
| Cowden Syndrome 6 |
|
Hyperthyroidism, Micrognathia, Pectus excavatum, Kyphosis, Hypoplasia of the maxilla, Narrow mout... |
OMIM:615109 |
| Campomelic Dysplasia |
|
Irregular dentition, Thoracic scoliosis, Cervical kyphosis, Micrognathia, Delayed epiphyseal ossi... |
OMIM:114290 |
| Osteogenesis Imperfecta, Type Xi |
|
Osteopenia, Joint laxity, Recurrent fractures, Kyphoscoliosis, Protrusio acetabuli, Brachycephaly... |
OMIM:610968 |
| Stromme Syndrome |
|
Accessory spleen, Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Prominent nasal bridge, M... |
OMIM:243605 |
| Mogs-Cdg |
|
Hepatomegaly, Wide nose, Alopecia, Thoracic scoliosis, External genital hypoplasia, Thrombocytope... |
ORPHA:79330 |
| Cowden Syndrome 5 |
|
Hyperthyroidism, Micrognathia, Pectus excavatum, Kyphosis, Hypoplasia of the maxilla, Narrow mout... |
OMIM:615108 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... |
OMIM:618052 |
| 9P13 Microdeletion Syndrome |
|
Microretrognathia, Anteverted nares, External genital hypoplasia, Highly arched eyebrow, Hypercon... |
ORPHA:324313 |
| Hypomandibular Faciocranial Dysostosis |
|
Recurrent respiratory infections, Anteverted nares, Aplasia/Hypoplasia of the tongue, Craniosynos... |
ORPHA:1790 |
| Congenital Disorder Of Deglycosylation 2 |
|
Sacral dimple, Cerebellar vermis hypoplasia, Genu recurvatum, Highly arched eyebrow, Micrognathia... |
OMIM:619775 |
| Antley-Bixler Syndrome |
|
Frontal bossing, Turricephaly, Anteverted nares, Choanal atresia, Craniosynostosis, Recurrent fra... |
ORPHA:83 |
| Reticular Dysgenesis |
|
Recurrent respiratory infections, Abnormality of neutrophils, Weight loss, Leukopenia, Failure to... |
ORPHA:33355 |
| Robinow Syndrome, Autosomal Dominant 1 |
|
Short lingual frenulum, Dental crowding, Short neck, Micrognathia, Orofacial cleft, Downturned co... |
OMIM:180700 |
| Familial Adenomatous Polyposis 4 |
|
Ovarian cyst, Uterine leiomyoma |
OMIM:617100 |
| Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Eunuchoid habitus, Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testos... |
OMIM:308700 |
| Brain-Lung-Thyroid Syndrome |
|
Thyroid dysgenesis, Hypoparathyroidism, Thyroid hemiagenesis, Recurrent respiratory infections, H... |
ORPHA:209905 |
| Melas |
|
Hypoparathyroidism, Diabetes mellitus, Hypogonadotropic hypogonadism, Aplasia/Hypoplasia of the c... |
ORPHA:550 |
| Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Frontal bossing, Decreased response to growth hormone stimulation test, Microcephaly, Patent duct... |
OMIM:617260 |
| Vici Syndrome |
|
Hypopigmentation of the skin, Abnormality of retinal pigmentation, Recurrent respiratory infectio... |
ORPHA:1493 |
| Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Microvesicular hepatic steato... |
OMIM:203700 |
| Alagille Syndrome |
|
Frontal bossing, Hepatomegaly, Peripheral pulmonary artery stenosis, Hypoplasia of the ulna, Micr... |
ORPHA:52 |
| Crisponi Syndrome |
|
Wide nose, Anteverted nares, Camptodactyly of finger, Micrognathia, Kyphosis, Flexion contracture... |
ORPHA:1545 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Osteopenia, Tented upper lip vermilion, Micrognathia, High, narrow palate, Abnormal lung lobation... |
ORPHA:369837 |
| Thanatophoric Dysplasia Type 1 |
|
Frontal bossing, Cloverleaf skull, Depressed nasal bridge, Short femur, Micromelia, Joint stiffne... |
ORPHA:1860 |
| Microcephaly 20, Primary, Autosomal Recessive |
|
Optic nerve hypoplasia, Microcephaly, Simplified gyral pattern, Microlissencephaly, Hypoplasia of... |
OMIM:617914 |
| Pseudotrisomy 13 Syndrome |
|
Encephalocele, 11 pairs of ribs, Adrenal hypoplasia, Microcephaly, Cleft upper lip, Cryptorchidis... |
OMIM:264480 |
| Polymicrogyria With Optic Nerve Hypoplasia |
|
Optic nerve hypoplasia, Dysplastic corpus callosum, Hypoplasia of the brainstem, Colpocephaly, Po... |
ORPHA:250972 |
| Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Short palm, Dental crowding, Micrognathia, Pectus excavatum, Kyphosis, Synophrys, Abnormality of ... |
ORPHA:476126 |
| Ovarian Dysgenesis 2 |
|
Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Secondary amenorrh... |
OMIM:300510 |
| Microcephaly 13, Primary, Autosomal Recessive |
|
Small for gestational age, Microcephaly, Prominent nose, Micrognathia, Partial agenesis of the co... |
OMIM:616051 |
| Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Osteopenia, Joint dislocation, Thoracic scoliosis, Micrognathia, Knee dislocation, Shoulder dislo... |
ORPHA:536532 |
| Microcephaly 3, Primary, Autosomal Recessive |
|
Microcephaly, Prominent nose, Partial agenesis of the corpus callosum, Simplified gyral pattern, ... |
OMIM:604804 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Vertebral fusion, Elbow contracture, Hyperlordosis, Microcephaly, Kyphosis, Achilles tendon contr... |
OMIM:606612 |
| Hutchinson-Gilford Progeria Syndrome |
|
Alopecia, Micrognathia, Osteolysis, Malar flattening, Midface retrusion, Generalized osteoporosis |
OMIM:176670 |
| Acro-Renal-Mandibular Syndrome |
|
Short neck, Micrognathia, Hemivertebrae, Abnormal lung lobation, Orofacial cleft, High palate, Sh... |
ORPHA:958 |
| Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Tented upper lip vermilion, Synophrys, Oligodontia, Aplasia of the distal phalanx of the 5th fing... |
ORPHA:364577 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Large posterior fontanelle, Short neck, Micrognathia, Brachycephaly, Absent nasal bridge, Neonata... |
OMIM:617925 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Osteopenia, Joint laxity, Absent septum pellucidum, Precocious puberty, Cryptorchidism, Abnormali... |
ORPHA:438213 |
| Short Syndrome |
|
Alopecia, Diabetes mellitus, Abnormal dental enamel morphology, Abnormality of the dentition, Abn... |
ORPHA:3163 |
| Subependymal Nodular Heterotopia |
|
Occipital encephalocele, Partial agenesis of the corpus callosum, Myelomeningocele, Meningocele, ... |
ORPHA:101030 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Refractory anemia, Myelofibrosis, Increased bone mineral density, Thrombocytopenia, Leukopenia, B... |
OMIM:231095 |
| Monosomy 9Q22.3 |
|
Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Ovarian fibroma, Large for gestati... |
ORPHA:77301 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Occipital encephalocele, Agyria, Optic nerve hypoplasia, Type II lissencephaly, Microcephaly, Mic... |
OMIM:236670 |
| Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency |
|
Synophrys, Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Mild microcephaly |
ORPHA:453521 |
| Albinism, Oculocutaneous, Type Ib |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism |
OMIM:606952 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Mandibular prognathia, Prominent nose, Short neck, High, narrow palate, Deep philtrum, Low anteri... |
OMIM:619950 |
| 6Q Terminal Deletion Syndrome |
|
Short neck, Micrognathia, High, narrow palate, Low anterior hairline, Joint laxity, Aplasia/Hypop... |
ORPHA:75857 |
| Amelogenesis Imperfecta, Type Ie |
|
Anterior open-bite malocclusion, Enamel hypoplasia, Abnormal dentin morphology, Amelogenesis impe... |
OMIM:301200 |
| Essential Thrombocythemia |
|
Myelofibrosis, Splenomegaly, Abnormal platelet morphology, Acute leukemia, Abnormal bone marrow c... |
ORPHA:3318 |
| Loeys-Dietz Syndrome 3 |
|
Osteoarthritis, Knee osteoarthritis, High palate, Bifid uvula, Joint laxity, Patent ductus arteri... |
OMIM:613795 |
| Mucopolysaccharidosis Type 4 |
|
Joint dislocation, Anteverted nares, Abnormal dental enamel morphology, Hyperlordosis, Short neck... |
ORPHA:582 |
| T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Splenomegaly, Pancytopenia, Hemophagocytosis, Anemia |
OMIM:618398 |
| Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Joint laxity, Wide nose, Prominent nasal bridge, Prominent nose, Pectus excavatum, Cubitus valgus... |
OMIM:601552 |
| Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Frontal bossing, Lumbar hyperlordosis, Depressed nasal bridge, Rhizomelia, Megalencephaly, Kyphos... |
OMIM:616482 |
| X Small Rings |
|
Joint laxity, Thin upper lip vermilion, Premature ovarian insufficiency, Anteverted nares, Short ... |
ORPHA:96201 |
| Cerebrotendinous Xanthomatosis |
|
Osteopenia, Abnormality of the vertebral spinous processes, Abnormal globus pallidus morphology, ... |
ORPHA:909 |
| Orthostatic Hypotension 2 |
|
Hypoglycemia |
OMIM:618182 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type |
|
Aplasia/hypoplasia of the extremities, Delayed epiphyseal ossification, Generalized joint laxity,... |
ORPHA:93360 |
| Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Spinal rigidity, Hyperlordosis, Kyphosis, Short neck, Flexion contracture, Scoliosis |
OMIM:300718 |
| Perrault Syndrome 3 |
|
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Mic... |
OMIM:614129 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Cerebellar vermis hypoplasia, Hyp... |
OMIM:212065 |
| Khan-Khan-Katsanis Syndrome |
|
Frontal bossing, Sacral dimple, Cerebellar vermis hypoplasia, Patent ductus arteriosus after prem... |
OMIM:618460 |
| Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Hypoplasia of penis, Micromelia, Micrognathia, Absent or minimally ossified vertebral bodies, Sho... |
ORPHA:93271 |
| Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Flexion contracture, Brachycephaly, Widely spaced teeth, Gliosis, Aspiration pneumonia, Microdont... |
OMIM:301072 |
| Insulin Autoimmune Syndrome |
|
Hyperinsulinemic hypoglycemia, Insulin-resistant diabetes mellitus, Arthralgia/arthritis, Weight ... |
ORPHA:411593 |
| Acute Myelomonocytic Leukemia |
|
Eosinophilia, Leukocytosis, Abnormality of the gingiva, Weight loss, Anemia, Thrombocytopenia |
ORPHA:517 |
| Orofaciodigital Syndrome Xiv |
|
Occipital encephalocele, Cerebellar vermis hypoplasia, Micrognathia, Epispadias, Partial agenesis... |
OMIM:615948 |
| Occipital Horn Syndrome |
|
Joint laxity, Short humerus, Persistent open anterior fontanelle, Pectus excavatum, Kyphosis, Cap... |
OMIM:304150 |
| Developmental And Epileptic Encephalopathy 31B |
|
Reduced cerebral white matter volume, Protruding tongue, Gingival overgrowth, Colpocephaly, Secon... |
OMIM:620352 |
| Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Ost... |
OMIM:610489 |
| Orofaciodigital Syndrome Type 14 |
|
Microretrognathia, Accessory oral frenulum, Microcephaly, Bilateral cryptorchidism, Epispadias, P... |
ORPHA:434179 |
| Diamond-Blackfan Anemia 1 |
|
Short neck, Micrognathia, Depressed nasal ridge, Reticulocytopenia, Hypoplastic coccygeal vertebr... |
OMIM:105650 |
| Pallister-Killian Syndrome |
|
Small scrotum, Tented upper lip vermilion, Congenital hip dislocation, Short neck, Micrognathia, ... |
OMIM:601803 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Smooth philtrum, Tented upper lip vermilion, Abnormal cortical gyration, Micrognathia, Kyphosis, ... |
OMIM:617527 |
| Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement |
|
Camptodactyly of finger, Dysgenesis of the basal ganglia, Hypoplastic anterior commissure, Wrist ... |
OMIM:600638 |
| Ovarian Hyperstimulation Syndrome |
|
Enlarged polycystic ovaries, Ovarian cyst, Increased circulating gonadotropin level, Hemorrhagic ... |
ORPHA:64739 |
| Hoyeraal-Hreidarsson Syndrome |
|
Abnormal leukocyte morphology, Sparse scalp hair, Cerebral calcification, Generalized hyperpigmen... |
ORPHA:3322 |
| Intestinal Dysmotility Syndrome |
|
Failure to thrive, High palate, Broad philtrum, Weight loss |
OMIM:620045 |
| Microphthalmia With Brain And Digit Anomalies |
|
Microcephaly, Cryptorchidism, High palate, Nail dysplasia, Inferior cerebellar vermis hypoplasia,... |
ORPHA:139471 |
| Dysosteosclerosis |
|
Osteopenia, Sclerosis of hand bone, Micrognathia, Increased intervertebral space, Absent frontal ... |
OMIM:224300 |
| Mucolipidosis Type Ii |
|
Dry hair, White hair, Knee flexion contracture, Prominent metopic ridge, Depressed nasal bridge, ... |
ORPHA:576 |
| Classic Homocystinuria |
|
Elevated hepatic transaminase, Sparse scalp hair, Hepatomegaly, Abnormality of retinal pigmentati... |
ORPHA:394 |
| Follicular Lymphoma |
|
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Weigh... |
ORPHA:545 |
| Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Decreased response to growth hormone stimulation test, Short neck, Low anterior hairline, Brachyc... |
OMIM:618223 |
| Corpus Callosum Agenesis-Neuronopathy Syndrome |
|
Abnormality of retinal pigmentation, Turricephaly, Craniosynostosis, Microcephaly, Agenesis of co... |
ORPHA:1496 |
| Ullrich Congenital Muscular Dystrophy 1 |
|
Joint laxity, Increased laxity of fingers, Spinal rigidity, Kyphosis, Distal joint laxity, Flexio... |
OMIM:254090 |
| Syndromic Diarrhea |
|
Brittle hair, Abnormality of the liver, Hypoplasia of the thymus, Hepatic fibrosis, Hepatoblastom... |
ORPHA:84064 |
| Chromosome 13Q14 Deletion Syndrome |
|
Frontal bossing, Thin upper lip vermilion, Absent septum pellucidum, Supernumerary nipple, Microg... |
OMIM:613884 |
| Cushing Syndrome Due To Ectopic Acth Secretion |
|
Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy... |
ORPHA:99889 |
| Cole-Carpenter Syndrome |
|
Delayed eruption of teeth, Frontal bossing, Turricephaly, Abnormal dental enamel morphology, Recu... |
ORPHA:2050 |
| Osteogenesis Imperfecta, Type Xvi |
|
Microretrognathia, Osteopenia, Small for gestational age, Rhizomelia, Recurrent fractures, Tooth ... |
OMIM:616229 |
| Pleural Mesothelioma |
|
Hepatomegaly, Abnormal pleura morphology, Abnormal lung morphology, Lymphadenopathy, Weight loss,... |
ORPHA:50251 |
| Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Bifid scrotum, Flat occiput, Epispadias, Depressed nasal ridge, Brachycephaly, Abnormal toenail m... |
ORPHA:2211 |
| Mohr Syndrome |
|
Short palm, Median cleft lip, Depressed nasal bridge, Accessory oral frenulum, Broad nasal tip, B... |
OMIM:252100 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Diffuse cerebral atrophy, Parakeratosis, Severe B lymphocytopenia, Micrognathia, Biliary hyperpla... |
ORPHA:83617 |
| Glutathionuria |
|
Agenesis of corpus callosum |
OMIM:231950 |
| Birk-Landau-Perez Syndrome |
|
Camptocormia, Failure to thrive in infancy, Microcephaly, Long eyelashes, Pachygyria, Agenesis of... |
OMIM:617595 |
| Classic Hodgkin Lymphoma |
|
Hepatomegaly, Splenomegaly, Osteolysis, Lymphadenopathy, Weight loss, Bone marrow hypocellularity |
ORPHA:391 |
| Schimmelpenning-Feuerstein-Mims Syndrome |
|
Osteopenia, Alopecia, Abnormality of dental color, Recurrent fractures, Kyphoscoliosis, Precociou... |
OMIM:163200 |
| Atelis Syndrome 2 |
|
Frontal bossing, Sacral dimple, Prominent nose, Microcephaly, Kyphosis, Bulbous nose, Elevated ci... |
OMIM:620185 |
| Crouzon Syndrome |
|
Mandibular prognathia, Frontal bossing, Abnormality of the cervical spine, Dental crowding, Sagit... |
OMIM:123500 |
| Osteosclerosis With Ichthyosis And Premature Ovarian Failure |
|
Osteosclerosis of the base of the skull, Hypoplasia of the ovary, Premature ovarian insufficiency... |
OMIM:609993 |
| Craniosynostosis 2 |
|
Frontal bossing, Turricephaly, Wormian bones, Cleft soft palate, Craniosynostosis, Unicoronal syn... |
OMIM:604757 |
| Combined Oxidative Phosphorylation Deficiency 12 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Dysplastic corpus ca... |
OMIM:614924 |
| Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Anteverted nares, Amelia, Pulmonary hypoplasia, Decreased skull ossification, Testicular atrophy |
OMIM:601163 |
| Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
|
Abnormal spinal cord morphology |
ORPHA:139578 |
| Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Dental crowding, Anterior pituitary hypoplasia, Prominent nose, Bilateral cryptorchidism, High, n... |
ORPHA:466791 |
| Gray Platelet Syndrome |
|
Myelofibrosis, Epistaxis, Abnormal number of alpha granules, Splenomegaly, Menorrhagia, Thrombocy... |
OMIM:139090 |
| Hip Dysplasia, Beukes Type |
|
Kyphosis, Abnormal ossification involving the femoral head and neck, Osteoarthritis, Abnormality ... |
ORPHA:2114 |
| X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Osteopenia, Cerebellar vermis hypoplasia, Congenital hip dislocation, Prominent nose, Brachycepha... |
ORPHA:480880 |
| Orofaciodigital Syndrome Vi |
|
11 pairs of ribs, Failure to thrive, Cerebellar vermis hypoplasia, Short femur, Accessory oral fr... |
OMIM:277170 |
| Semilobar Holoprosencephaly |
|
Decreased response to growth hormone stimulation test, Flexion contracture, Depressed nasal ridge... |
ORPHA:220386 |
| Alobar Holoprosencephaly |
|
Decreased response to growth hormone stimulation test, Flexion contracture, Depressed nasal ridge... |
ORPHA:93925 |
| Midline Interhemispheric Variant Of Holoprosencephaly |
|
Decreased response to growth hormone stimulation test, Flexion contracture, Depressed nasal ridge... |
ORPHA:93926 |
| Lobar Holoprosencephaly |
|
Decreased response to growth hormone stimulation test, Flexion contracture, Depressed nasal ridge... |
ORPHA:93924 |
| Parietal Foramina 1 |
|
Encephalocele, Cleft upper lip, Parietal foramina, Cleft palate, Macrocephaly, Wormian bones |
OMIM:168500 |
| Osteogenesis Imperfecta, Type Ii |
|
Wormian bones, Small for gestational age, Recurrent fractures, Absent ossification of calvaria, M... |
OMIM:166210 |
| Waardenburg-Shah Syndrome |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, White eyelashes, White eyebrow, Prominent ... |
ORPHA:897 |
| Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Brittle hair, Camptodactyly of finger, Carious teeth, Kyphosis, Hyperkeratosis, Coarse hair, Join... |
ORPHA:1883 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Lymphopenia, Micrognathia, Hypoplasia of the pons, Kyphosis, Interstitial emphysema, Bronchiectas... |
OMIM:619708 |
| Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Frontal bossing, Depressed nasal bridge, Choanal atresia, Wide anterior fontanel, Flexion contrac... |
OMIM:207410 |
| Castleman Disease |
|
Myelofibrosis, Generalized lymphadenopathy, Follicular hyperplasia, Mediastinal lymphadenopathy, ... |
ORPHA:160 |
| Dyggve-Melchior-Clausen Disease |
|
Mandibular prognathia, Short neck, Short metatarsal, Thoracic kyphosis, Multicentric ossification... |
OMIM:223800 |
| Campomelic Dysplasia |
|
Poorly ossified cervical vertebrae, 11 pairs of ribs, Depressed nasal bridge, Small abnormally fo... |
ORPHA:140 |
| 14Q22Q23 Microdeletion Syndrome |
|
Small scrotum, Diabetes insipidus, Anterior pituitary hypoplasia, Adrenal hypoplasia, Underdevelo... |
ORPHA:264200 |
| Kallmann Syndrome With Spastic Paraplegia |
|
Eunuchoid habitus, Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypog... |
OMIM:308750 |
| Parathyroid Carcinoma |
|
Pancreatic adenocarcinoma, Testicular neoplasm, Primary hyperparathyroidism, Osteoporosis, Abnorm... |
ORPHA:143 |
| Encephalocraniocutaneous Lipomatosis |
|
Peripheral pulmonary artery stenosis, Alopecia, Linear hyperpigmentation, Cryptorchidism, Cortica... |
OMIM:613001 |
| Idiopathic Hypercalciuria |
|
Osteopenia, Osteoporosis |
ORPHA:2197 |
| Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Elevated hepatic transaminase, Neutrophilia, Liver abscess, Abnormality of the pancreas, Abnormal... |
ORPHA:54251 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Recurrent respiratory infections, Abnormal neutrophil count, Splenomegaly, Leukocyt... |
ORPHA:3226 |
| Sialidosis Type 1 |
|
Frontal bossing, Kyphosis, Splenomegaly, Thick lower lip vermilion, Wide nasal bridge, Abnormal f... |
ORPHA:812 |
| Halperin-Birk Syndrome |
|
Micrognathia, Flexion contracture, Hip dislocation, Colpocephaly, Long eyelashes, High palate, Th... |
OMIM:618651 |
| Intellectual Developmental Disorder, Autosomal Dominant 57 |
|
Thin upper lip vermilion, Prominent nasal bridge, Craniosynostosis, Broad nasal tip, Microcephaly... |
OMIM:618050 |
| Cardiofacioneurodevelopmental Syndrome |
|
Cerebellar vermis hypoplasia, Microcephaly, Asplenia, Cryptorchidism, Kyphosis, Micrognathia, Cle... |
OMIM:619123 |
| Roberts Syndrome |
|
Aplasia/Hypoplasia of the thumb, Short neck, Micrognathia, Brachycephaly, Knee flexion contractur... |
ORPHA:3103 |
| Mucopolysaccharidosis Type 6 |
|
Sinusitis, Thick nasal alae, Ovoid vertebral bodies, Short neck, Joint stiffness, Kyphosis, Splen... |
ORPHA:583 |
| Combined Oxidative Phosphorylation Deficiency 24 |
|
Agenesis of corpus callosum, Gliosis, Hypoplasia of the corpus callosum, Microcephaly |
OMIM:616239 |
| Thrombocytopenia 6 |
|
Myelofibrosis, Spontaneous, recurrent epistaxis, Bone marrow hypercellularity, Osteoporosis, Thro... |
OMIM:616937 |
| Spondyloperipheral Dysplasia |
|
Short distal phalanx of the 4th finger, Short neck, Short metatarsal, Irregular vertebral endplat... |
OMIM:271700 |
| Mend Syndrome |
|
Sacral dimple, Prominent nasal bridge, Micrognathia, Asymmetry of the mouth, Cryptorchidism, Kyph... |
ORPHA:401973 |
| Toriello-Lacassie-Droste Syndrome |
|
Abnormal penis morphology, Short palm, Generalized hyperpigmentation, Hypospadias, Absent septum ... |
ORPHA:3339 |
| Melnick-Needles Syndrome |
|
Obtuse angle of mandible, Anterior concavity of thoracic vertebrae, Micrognathia, Coarse hair, Fr... |
OMIM:309350 |
| Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Hepatomegaly, Palmoplantar keratoderma, Weight loss |
ORPHA:2198 |
| Hypohidrotic Ectodermal Dysplasia |
|
Abnormal hair quantity, Frontal bossing, Sinusitis, Anteverted nares, Slow-growing hair, Abnormal... |
ORPHA:238468 |
| Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Osteopenia, Joint laxity, Joint dislocation, Congenital hip dislocation, Depressed nasal bridge, ... |
OMIM:225400 |
| Cerebrooculonasal Syndrome |
|
Cerebellar vermis hypoplasia, Brachycephaly, Downturned corners of mouth, High palate, Dandy-Walk... |
OMIM:605627 |
| Cystic Fibrosis |
|
Elevated hepatic transaminase, Recurrent respiratory infections, Osteopenia, Nasal polyposis, Abs... |
ORPHA:586 |
| Kbg Syndrome |
|
Tented upper lip vermilion, Short neck, Epispadias, Synophrys, Low anterior hairline, Brachycepha... |
OMIM:148050 |
| Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
|
Frontal bossing, Dental crowding, Partial agenesis of the corpus callosum, Brachycephaly, Obesity... |
OMIM:617296 |
| Cushing Disease |
|
Adrenal hyperplasia, Pituitary corticotropic cell adenoma, Increased body weight, Intra-oral hype... |
ORPHA:96253 |
| Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Decreased response to growth hormone stimulation test, Premature thelarche, Hypoplasia of the bra... |
ORPHA:268261 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Multiple joint contractures, Anterior pituitary hypoplasia, Hypoplasia of the brainstem, Micropen... |
ORPHA:464306 |
| Hartsfield Syndrome |
|
Wide nose, Median cleft lip, Hypospadias, Diabetes insipidus, Craniosynostosis, Microcephaly, Cle... |
OMIM:615465 |
| Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Osteomyelitis, Abnormal sacroiliac joint morphology, Craniofacial osteosclerosis, Osteolysis, Wei... |
ORPHA:324964 |
| Ehlers-Danlos Syndrome, Dermatosparaxis Type |
|
Osteopenia, Joint laxity, Spontaneous neonatal pneumothorax, Frontal open bite, Micrognathia, Del... |
OMIM:225410 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Decreased thyroid-stimulating hormone level, Large posterior fontanelle, Depressed nasal bridge, ... |
ORPHA:90674 |
| Waardenburg Syndrome |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Prominent nasal bridge, Underdeveloped nas... |
ORPHA:3440 |
| Undifferentiated Pleomorphic Sarcoma |
|
Abnormal peritoneum morphology, Weight loss |
ORPHA:2023 |
| Familial Osteodysplasia, Anderson Type |
|
Mandibular prognathia, Prominent nose, Long nose, Depressed nasal ridge, Abnormal form of the ver... |
ORPHA:2769 |
| Curry-Jones Syndrome |
|
Bicoronal synostosis, Lip pit, Megalencephaly, Unicoronal synostosis, Lipomyelomeningocele, Hemim... |
OMIM:601707 |
| Spastic Paraplegia 46, Autosomal Recessive |
|
Kyphosis, Cerebral atrophy, Ankle clonus, Infertility, Scoliosis, Hypoplasia of the corpus callosum |
OMIM:614409 |
| Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development |
|
Pectus excavatum of inferior sternum, Thin upper lip vermilion, Small scrotum, Depressed nasal br... |
OMIM:601353 |
| Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant |
|
Micrognathia, Dental malocclusion, Small nail, Camptodactyly, Malar flattening, Joint contracture... |
OMIM:608257 |
| Plaa-Associated Neurodevelopmental Disorder |
|
Smooth philtrum, Hyperextensibility of the finger joints, Cerebral white matter atrophy, Tented u... |
ORPHA:521426 |
| Autosomal Recessive Faciodigitogenital Syndrome |
|
Frontal bossing, Dry hair, Hypopigmentation of hair, Anteverted nares, Prominent nasal bridge, Mi... |
ORPHA:1974 |
| Aspartylglucosaminuria |
|
Vacuolated lymphocytes, Brachycephaly, Neutropenia, Joint laxity, Hepatomegaly, Depressed nasal b... |
OMIM:208400 |
| Becker Nevus Syndrome |
|
Hypermelanotic macule, Supernumerary nipple, Micromelia, Pectus excavatum, Kyphosis, Hypoplastic ... |
ORPHA:64755 |
| Hydrolethalus Syndrome 2 |
|
Agenesis of corpus callosum, Anencephaly, Cleft palate, Micrognathia |
OMIM:614120 |
| Solitary Fibrous Tumor |
|
Abnormal peritoneum morphology, Low back pain, Vaginal neoplasm, Weight loss, Neoplasm of the lun... |
ORPHA:2126 |
| Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Osteopenia, Septo-optic dysplasia, Ectopic posterior pituitary, Decreased response to growth horm... |
ORPHA:95494 |
| Osteogenesis Imperfecta, Type Viii |
|
Barrel-shaped chest, Osteopenia, Short metacarpal, Joint laxity, Wormian bones, Recurrent fractur... |
OMIM:610915 |
| Piebaldism |
|
Hypopigmentation of hair, White eyelashes, White eyebrow, Microcephaly, Synophrys, Piebaldism, Wi... |
ORPHA:2884 |
| Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Dental crowding, Decreased response to growth hormone stimulation test, Micrognathia, High, narro... |
ORPHA:96182 |
| Oculopharyngodistal Myopathy |
|
High, narrow palate, Weight loss, High palate, Difficulty in tongue movements, Recurrent aspirati... |
ORPHA:98897 |
| Perlman Syndrome |
|
Everted upper lip vermilion, Tented upper lip vermilion, Depressed nasal bridge, Large for gestat... |
OMIM:267000 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii |
|
Thin upper lip vermilion, Hip contracture, Hypospadias, Kyphoscoliosis, Micrognathia, Microcephal... |
OMIM:210730 |
| Hutchinson-Gilford Progeria Syndrome |
|
Dental crowding, Short lingual frenulum, Micrognathia, Osteoarthritis, Reduced bone mineral densi... |
ORPHA:740 |
| Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity |
|
Microcephaly, Hypoplasia of the pons, Simplified gyral pattern, Cerebellar hypoplasia, Scoliosis,... |
OMIM:617669 |
| Glycogen Storage Disease Ib |
|
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Hepatocellular carcinoma, Splen... |
OMIM:232220 |
| Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Frontal polymicrogyria, Failure to thrive, Cerebral calcification, Cerebellar vermis hypoplasia, ... |
OMIM:620024 |
| Mitochondrial Dna Depletion Syndrome 11 |
|
Neuropathic spinal arthropathy, Hypergonadotropic hypogonadism, Spinal rigidity, Microcephaly, Ky... |
OMIM:615084 |
| Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Osteopenia, Elevated circulating thyroid-stimulating hormone concentration, Hepatic fibrosis, Pan... |
OMIM:610199 |
| Peroxisome Biogenesis Disorder 13A (Zellweger) |
|
Hepatomegaly, Flat occiput, Depressed nasal bridge, Elevated circulating aspartate aminotransfera... |
OMIM:614887 |
| Cleft Palate, Proliferative Retinopathy, And Developmental Delay |
|
Cerebellar vermis hypoplasia, Micrognathia, Partial agenesis of the corpus callosum, Cleft palate... |
OMIM:619074 |
| Kaposi Sarcoma |
|
Generalized lymphadenopathy, Hypermelanotic macule, Abnormality of the spleen, Abnormal lung morp... |
ORPHA:33276 |
| Allergic Bronchopulmonary Aspergillosis |
|
Abnormal eosinophil morphology, Abnormal fingernail morphology, Bronchiectasis, Weight loss, Emph... |
ORPHA:1164 |
| Hermansky-Pudlak Syndrome 3 |
|
Spontaneous, recurrent epistaxis, Hypopigmentation of hair, Albinism, Gingival bleeding, Hypopigm... |
OMIM:614072 |
| Mowat-Wilson Syndrome |
|
Bifid scrotum, Large basal ganglia, Widely spaced teeth, Agenesis of corpus callosum, Hypospadias... |
OMIM:235730 |
| 15Q14 Microdeletion Syndrome |
|
Prominent nasal bridge, Microcephaly, Abnormality of the dentition, Kyphosis, Cleft palate, Short... |
ORPHA:261190 |
| Otofaciocervical Syndrome 2, With T-Cell Deficiency |
|
Microretrognathia, Carious teeth, Dental malocclusion, Wide nasal bridge |
OMIM:615560 |
| Lopes-Maciel-Rodan Syndrome |
|
Caudate atrophy, Kyphosis, Small hand, Cerebral atrophy, Short foot, Ankle clonus, Scoliosis |
OMIM:617435 |
| Woolly Hair Nevus |
|
Curly hair, Patchy hypopigmentation of hair, Precocious puberty, Fine hair, Woolly scalp hair, Co... |
ORPHA:79414 |
| Bardet-Biedl Syndrome 1 |
|
Bone spicule pigmentation of the retina, Diabetes mellitus, Dental crowding, Nephrogenic diabetes... |
OMIM:209900 |
| Congenital Erythropoietic Porphyria |
|
Osteopenia, Hemolytic anemia, Reticulocytosis, Erythrodontia, Hyperpigmentation of the skin, Anis... |
ORPHA:79277 |
| Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased urinary cortisol level, Decreased circulating ACTH concentration, Osteoporosis, Increas... |
OMIM:615954 |
| Lysinuric Protein Intolerance |
|
Bone marrow hypercellularity, Hepatomegaly, Elevated hepatic transaminase, Osteopenia, Decreased ... |
ORPHA:470 |
| Albinism, Oculocutaneous, Type Iv |
|
Hypopigmentation of hair, Blue irides, Albinism |
OMIM:606574 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Flexion contracture of finger, Hypospadias, Prominent nasal bridge, Small for gestational age, Mi... |
ORPHA:464311 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Mandibular prognathia, Kyphosis, Synophrys, Scoliosis, Hirsutism |
OMIM:300861 |
| Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Elbow contracture, Short neck, Micrognathia, Short metatarsal, Short ... |
OMIM:304120 |
| Stüve-Wiedemann Syndrome |
|
Osteopenia, Sacral dimple, Flexion contracture of finger, Recurrent fractures, Micromelia, Abnorm... |
ORPHA:3206 |
| Brittle Cornea Syndrome |
|
Abnormality of the dentition, Osteoporosis, Abnormality of hair pigmentation, Cleft palate, Incre... |
ORPHA:90354 |
| Keratoderma Hereditarium Mutilans |
|
Abnormal spinal cord morphology |
ORPHA:494 |
| Heart Defects-Limb Shortening Syndrome |
|
Kyphosis, Abnormality of the pulmonary artery, Abnormal form of the vertebral bodies, Mesomelic/r... |
ORPHA:1354 |
| Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Increased intervertebral space, Delayed epiphyseal ossification, Short metatarsal, Thoracic kypho... |
ORPHA:93314 |
| Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development |
|
Premature ovarian insufficiency, Kyphosis, High, narrow palate, Obesity, Scoliosis |
OMIM:618124 |
| Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... |
OMIM:618841 |
| Obesity And Hypopigmentation |
|
Red hair, Hepatic steatosis, Hyperinsulinemia, Obesity |
OMIM:620195 |
| Norrie Disease |
|
Narrow nasal bridge, Diabetes mellitus, Cachexia, Microcephaly, Cryptorchidism, Delayed puberty, ... |
ORPHA:649 |
| Insulin-Resistance Syndrome Type B |
|
Osteoarthritis, Fasting hyperinsulinemia, Increased body weight, Leukopenia, Abnormal salivary gl... |
ORPHA:2298 |
| Ovarian Dysgenesis 9 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... |
OMIM:619665 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Mandibular prognathia, Prominent nose, Short neck, Micrognathia, Synophrys, Brachycephaly, Widely... |
OMIM:612474 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Alopecia, Erosion of oral mucosa, Abnormal oral mucosa morphology, Pneumonia, Paronychia, Pneumot... |
ORPHA:79404 |
| Mast Cell Sarcoma |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Weight loss, Lymphadenopathy, Mastocytosis |
ORPHA:66661 |
| 3Mc Syndrome 1 |
|
Sacral dimple, Dental crowding, Highly arched eyebrow, Supernumerary nipple, Microcephaly, Cleft ... |
OMIM:257920 |
| Huntington Disease |
|
Caudate atrophy, Cerebral atrophy, Abnormality of the sense of smell, Weight loss, Abnormal cereb... |
ORPHA:399 |
| Osteogenesis Imperfecta, Type Xvii |
|
Joint laxity, Recurrent fractures, Kyphoscoliosis, Osteoporosis, Hip dislocation, Reduced bone mi... |
OMIM:616507 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Dental crowding, Decreased respon... |
OMIM:619503 |
| Microphthalmia, Lenz Type |
|
Delayed eruption of teeth, Hypospadias, Abnormal dental morphology, Camptodactyly of finger, Hype... |
ORPHA:568 |
| Thakker-Donnai Syndrome |
|
Anteverted nares, Short neck, Bulbous nose, Hemivertebrae, Downturned corners of mouth, Rectovagi... |
ORPHA:1780 |
| Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Frontal bossing, Delayed cranial suture closure, Supernumerary nipple, Microcephaly, Highly arche... |
OMIM:618653 |
| 17Q11 Microdeletion Syndrome |
|
Osteopenia, Abnormal lung morphology, Elevated circulating parathyroid hormone level, Pheochromoc... |
ORPHA:97685 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Cerebellar vermis hypoplasia, Hypospadias, Anteverted nares, Small for gestational age, Microceph... |
OMIM:220111 |
| Chediak-Higashi Syndrome |
|
Gingivitis, Leukopenia, Periodontitis, Giant neutrophil granules, Neutropenia, Hypopigmentation o... |
OMIM:214500 |
| Thrombocytopenia, Anemia, And Myelofibrosis |
|
Myelofibrosis, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis, Anemia |
OMIM:617441 |
| Autosomal Dominant Progressive External Ophthalmoplegia |
|
Elevated hepatic transaminase, Hyperthyroidism, Diabetes mellitus, Osteoporosis, Abnormality of t... |
ORPHA:254892 |
| Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features |
|
Frontal bossing, Thin upper lip vermilion, Anteverted nares, Supernumerary nipple, Highly arched ... |
OMIM:616728 |
| Hepatoerythropoietic Porphyria |
|
Osteopenia, Hemolytic anemia, Erythrodontia, Scarring alopecia of scalp, Erythroid hyperplasia, L... |
ORPHA:95159 |
| Restrictive Dermopathy |
|
Osteopenia, Multiple joint contractures, Micrognathia, Sparse hair, Decreased skull ossification,... |
ORPHA:1662 |
| Ayme-Gripp Syndrome |
|
Mandibular prognathia, Brachycephaly, Depressed nasal bridge, Wide nasal bridge, Narrow mouth, Cr... |
OMIM:601088 |
| Hypergonadotropic Hypogonadism And Partial Alopecia |
|
Alopecia, Streak ovary, Hypergonadotropic hypogonadism |
OMIM:241090 |
| Hydrolethalus Syndrome 1 |
|
Accessory spleen, Median cleft lip, Hypospadias, Absent septum pellucidum, Abnormal cortical gyra... |
OMIM:236680 |
| Gm1-Gangliosidosis, Type Iii |
|
Diffuse cerebral atrophy, Kyphosis, Platyspondyly, Scoliosis, Anterior beaking of lumbar vertebra... |
OMIM:230650 |
| Curry-Jones Syndrome |
|
Hypopigmented skin patches, Agenesis of corpus callosum, Generalized hirsutism, Craniosynostosis |
ORPHA:1553 |
| Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Mandibular prognathia, Large for gestational age, Diffuse white matter abnormalities, High palate... |
ORPHA:457359 |
| Six2-Related Frontonasal Dysplasia |
|
Frontal bossing, Absent/hypoplastic paranasal sinuses, Small for gestational age, Depressed nasal... |
ORPHA:488437 |
| Pancreatic Agenesis-Holoprosencephaly Syndrome |
|
Absent gallbladder, Small for gestational age, Neonatal insulin-dependent diabetes mellitus, Abno... |
ORPHA:556955 |
| Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Mandibular prognathia, Frontal bossing, Turricephaly, Sacral dimple, Microretrognathia, Microceph... |
OMIM:613603 |
| Ovarian Dysgenesis 10 |
|
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... |
OMIM:619834 |
| Idiopathic Juvenile Osteoporosis |
|
Kyphosis, Vertebral compression fracture, Osteoporosis, Recurrent fractures |
ORPHA:85193 |
| Cornelia De Lange Syndrome |
|
Hypoplasia of penis, Micromelia, Short neck, Micrognathia, Synophrys, Low anterior hairline, Brac... |
ORPHA:199 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Encephalocele, Microcephaly, Spinal rigidity, Cleft upper lip, Partial absence of cerebellar verm... |
OMIM:613150 |
| Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Streak ovary, Hypospadias, Cryptorchidism, Obesity, Abnormality of the uterus, Gonadoblastoma, Ab... |
OMIM:194072 |
| Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Neuropathic spinal arthropathy, Decreased mitochondrial number, Hypergonadotropic hypogonadism, S... |
ORPHA:352447 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Unilateral lung agenesis, Hypoplasia of the maxilla, Hemivertebrae, Simplified gyral pattern, Dow... |
ORPHA:500150 |
| Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Thin bony cortex, Rhizomelia, Platyspondyly, Thoracic kyphosis, Wormian bones, Short 4th metacarp... |
OMIM:619638 |
| Arthrogryposis, Distal, Type 5 |
|
Abnormality of retinal pigmentation, Limited wrist extension, Pectus excavatum, Kyphosis, Distal ... |
OMIM:108145 |
| Singleton-Merten Syndrome 1 |
|
Osteopenia, Hypoplasia of the maxilla, Eruption failure, Joint subluxation, High anterior hairlin... |
OMIM:182250 |
| Dilution, Pigmentary |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
OMIM:126070 |
| Van Der Woude Syndrome 2 |
|
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia |
OMIM:606713 |
| Progressive Non-Infectious Anterior Vertebral Fusion |
|
Proximal radio-ulnar synostosis, Abnormal intervertebral disk morphology, Depressed nasal bridge,... |
ORPHA:2062 |
| Holoprosencephaly 13, X-Linked |
|
Septo-optic dysplasia, Median cleft lip, Optic nerve hypoplasia, Microcephaly, Micrognathia, Pate... |
OMIM:301043 |
| Pyruvate Dehydrogenase E1-Beta Deficiency |
|
Agenesis of corpus callosum |
OMIM:614111 |
| Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Mandibular prognathia, Hypopigmentation of hair, Protruding tongue, Cessation of head growth, Wid... |
ORPHA:98795 |
| Woodhouse-Sakati Syndrome |
|
Osteopenia, Decreased serum testosterone concentration, Alopecia, Streak ovary, Hypoplasia of the... |
ORPHA:3464 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Barrel-shaped chest, Lumbar hyperlordosis, Ovoid vertebral bodies, Limited elbow movement, Short ... |
OMIM:183900 |
| Cherubism |
|
Jaw swelling, Dental malocclusion, Alveolar ridge overgrowth, Narrow palate, Oligodontia, Multipl... |
OMIM:118400 |
| Glycerol Kinase Deficiency |
|
Adrenocortical hypoplasia, Frontal bossing, Small for gestational age, Chronic pancreatitis, Cryp... |
OMIM:307030 |
| Oculocutaneous Albinism, Type Viii |
|
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:619165 |
| Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Numerous pigmented freckles, Cachexia, Microcephaly |
ORPHA:220295 |
| Pmm2-Cdg |
|
Mandibular prognathia, Osteopenia, Cerebellar vermis hypoplasia, Multiple joint contractures, Pro... |
ORPHA:79318 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Frontal bossing, Exaggerated cupid's bow, Spina bifida, Broad nasal tip, Cyst of the ductus chole... |
OMIM:619480 |
| Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Mandibular prognathia, Hip contracture, Depressed nasal bridge, Microcephaly, Kyphosis, Recurrent... |
OMIM:618493 |
| Rhabdoid Tumor |
|
Lymphadenopathy, Anemia, Neoplasm of the liver, Weight loss, Thrombocytopenia |
ORPHA:69077 |
| Myotonic Dystrophy 1 |
|
Frontal balding, Cerebral atrophy, Hypogonadism, Cholelithiasis, Testicular atrophy |
OMIM:160900 |
| Arthrogryposis And Ectodermal Dysplasia |
|
Absent eyebrow, Diabetes mellitus, Abnormal dental enamel morphology, Trichiasis, Microcephaly, K... |
OMIM:601701 |
| Septooptic Dysplasia |
|
Diabetes insipidus, Anterior pituitary hypoplasia, Absent septum pellucidum, Optic nerve hypoplas... |
OMIM:182230 |
| Ring Chromosome 7 Syndrome |
|
Mandibular prognathia, Low anterior hairline, Brachycephaly, Abnormality of skin pigmentation, Sh... |
ORPHA:1449 |
| Fucosidosis |
|
Hepatomegaly, Generalized hyperkeratosis, Abnormality of the dentition, Kyphosis, Abnormality of ... |
ORPHA:349 |
| Pontocerebellar Hypoplasia, Type 17 |
|
Microretrognathia, Cerebellar vermis hypoplasia, Hypoplasia of the pons, Kyphosis, Patent ductus ... |
OMIM:619909 |
| Weismann-Netter Syndrome |
|
Kyphosis, Horizontal sacrum, Delayed eruption of permanent teeth, Scoliosis, Calvarial hyperostosis |
OMIM:112350 |
| Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Bifid scrotum, Fused labia majora, Decreased circulating cortisol level, Small scrotum, Hemiverte... |
OMIM:201750 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Abnormal spinal cord morphology |
ORPHA:99947 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Barrel-shaped chest, Osteopenia, Recurrent fractures, Kyphoscoliosis, Microcephaly, Kyphosis, Ost... |
OMIM:259770 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Hamartoma of tongue, Cleft upper lip, Cleft palate, Fibular hypoplasia, S... |
OMIM:613091 |
| Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Hyperextensibility of the finger joints, Prominent nasal bridge, Narrow nasal ridge, Craniosynost... |
OMIM:616914 |
| Brittle Cornea Syndrome 1 |
|
Joint laxity, Congenital hip dislocation, Scoliosis, Macrocephaly, Red hair, Dentinogenesis imper... |
OMIM:229200 |
| Gaucher Disease, Type Iiic |
|
Splenomegaly, Pancytopenia, Hepatomegaly |
OMIM:231005 |
| Griscelli Syndrome Type 3 |
|
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation |
ORPHA:79478 |
| Alveolar Echinococcosis |
|
Low back pain, Liver abscess, Pulmonary cyst, Eosinophilia, Cholangitis, Portal hypertension, Pan... |
ORPHA:284 |
| Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Hepatomegaly, Hypopigmentation of hair, Splenomegaly, Osteopetrosis, Cafe-au-lait spot, Hypopigme... |
OMIM:618541 |
| Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Hypointensity of cerebral white matter on MRI, Cachexia, Leukoencephalopathy, Weight loss, Slende... |
OMIM:603041 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Abnormal nasopharynx morphology, Absence of Stensen duct, Decreased response to growth hormone st... |
OMIM:129900 |
| Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ... |
OMIM:609813 |
| Juvenile Huntington Disease |
|
Abnormal cerebral white matter morphology, Neuronal loss in basal ganglia, Weight loss |
ORPHA:248111 |
| Alg1-Cdg |
|
Kyphosis, Limitation of joint mobility, Cerebral atrophy, Decreased liver function, Scoliosis, Pr... |
ORPHA:79327 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Abnormal eyebrow morphology, Alopecia, Aplasia/Hypoplasia of the clavicles, Abnormality of the de... |
ORPHA:90153 |
| Thymic Neuroendocrine Tumor |
|
Osteopenia, Pituitary null cell adenoma, Pancreatic islet cell adenoma, Chronic noninfectious lym... |
ORPHA:97289 |
| Peripheral Primitive Neuroectodermal Tumor |
|
Neoplasm of the pancreas, Back pain, Abnormal thoracic spine morphology, Metrorrhagia, Precocious... |
ORPHA:370348 |
| Brucellosis |
|
Liver abscess, Bronchitis, Knee osteoarthritis, Leukopenia, Abnormality of the liver, Hepatomegal... |
ORPHA:1304 |
| Gracile Bone Dysplasia |
|
Asplenia, Hypoplastic spleen, Decreased skull ossification, Micropenis, Failure to thrive, Ankylo... |
OMIM:602361 |
| Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Joint dislocation, Knee flexion contracture, Short 5th metacarpal, Depressed nasal bridge, Thorac... |
OMIM:618019 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Cerebellar vermis hypoplasia, Micrognathia, Brachycephaly, Phocomelia, Cavum septum pellucidum, G... |
OMIM:274000 |
| Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Wormian bones, Shortening of all metacarpals, Wide anterior fontanel, Macrocephaly, Platyspondyly... |
OMIM:601356 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatic steatosis, Intracerebral periventricular calcifications, Cerebral calcification, Cerebell... |
ORPHA:228308 |
| Hyperparathyroidism-Jaw Tumor Syndrome |
|
Pancreatic adenocarcinoma, Testicular neoplasm, Primary hyperparathyroidism, Osteoporosis, Abnorm... |
ORPHA:99880 |
| Roberts-Sc Phocomelia Syndrome |
|
Short neck, Micrognathia, Brachycephaly, Tetraphocomelia, Knee flexion contracture, High palate, ... |
OMIM:268300 |
| Mend Syndrome |
|
Microretrognathia, Smooth philtrum, Sacral dimple, Prominent nasal bridge, Micrognathia, Cryptorc... |
OMIM:300960 |
| Cowden Syndrome |
|
High palate, Abnormality of the uterus, Abnormal penis morphology, Endometrial carcinoma, Follicu... |
ORPHA:201 |
| Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Hip contracture, Bilateral cryptorchidism, Kyphosis, Synophrys, Pectus excavatum, Bone cyst, Oste... |
ORPHA:3042 |
| Primary Biliary Cholangitis |
|
Portal hypertension, Abnormality of the thyroid gland, Jaundice, Osteoporosis, Biliary cirrhosis,... |
ORPHA:186 |
| Oculogastrointestinal Muscular Dystrophy |
|
Cachexia |
ORPHA:1876 |
| Encephalocraniocutaneous Lipomatosis |
|
Craniofacial hyperostosis, Alopecia, Cerebral calcification, Absent septum pellucidum, Abnormal e... |
ORPHA:2396 |
| Familial Isolated Hyperparathyroidism |
|
Osteopenia, Primary hyperparathyroidism, Elevated circulating parathyroid hormone level, Parathyr... |
ORPHA:99879 |
| Loeys-Dietz Syndrome 2 |
|
Joint laxity, Spontaneous pneumothorax, Protrusio acetabuli, Craniosynostosis, Micrognathia, Pect... |
OMIM:610168 |
| Typical Nemaline Myopathy |
|
Hyperlordosis, Spinal rigidity, Kyphosis, Short neck, Pectus excavatum, Micrognathia, Flexion con... |
ORPHA:171436 |
| Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Hypoplasia of the pons, Abnormality of the anterior commissure, Agenesis of corpus callosum, Scol... |
OMIM:617542 |
| Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Tented upper lip vermilion, Micrognathia, Synophrys, Oligodontia, Aplasia of the distal phalanx o... |
OMIM:608670 |
| White-Kernohan Syndrome |
|
Joint laxity, Thin upper lip vermilion, Tented upper lip vermilion, Anteverted nares, Depressed n... |
OMIM:619426 |
| Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Frontal bossing, High, narrow palate, Kyphosis, Joint hyperflexibility, Shoulder dislocation, Sco... |
ORPHA:2181 |
| Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome |
|
Frontal bossing, Micrognathia, Thin calvarium, Short nose, Midface retrusion, Delayed cranial sut... |
ORPHA:1129 |
| Ulna Hypoplasia-Intellectual Disability Syndrome |
|
Hypoplasia of the ulna, Micromelia, Joint stiffness, Elbow dislocation, Hypoplasia of the radius,... |
ORPHA:2249 |
| Myofibrillar Myopathy 10 |
|
Mandibular prognathia, Ankle flexion contracture, Kyphosis, Elbow flexion contracture, Knee flexi... |
OMIM:619040 |
| Poland Syndrome |
|
Aplasia/Hypoplasia of the thumb, Short neck, Hemivertebrae, Reduced bone mineral density, Vertebr... |
ORPHA:2911 |
| Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Abnormal hip joint morphology, Abnormality of the temporomandibular joint, Ankle swelling, Joint ... |
ORPHA:85408 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Encephalocele, Agyria, Hypoplasia of the pyramidal tract, Spinal rigidity, Flexion contracture, H... |
OMIM:253800 |
| Bleeding Disorder, Platelet-Type, 17 |
|
Myelofibrosis, Increased RBC distribution width, Epistaxis, Macrothrombocytopenia, Absence of alp... |
OMIM:187900 |
| Microphthalmia, Syndromic 11 |
|
Agenesis of pineal gland, Agenesis of corpus callosum, Cleft palate, Cleft upper lip |
OMIM:614402 |
| Craniosynostosis 4 |
|
Ectopic posterior pituitary, Depressed nasal bridge, Optic nerve hypoplasia, Sagittal craniosynos... |
OMIM:600775 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Hepatomegaly, Hyperlordosis, Respiratory tract infection, Atelectasis, Elevated circulating alani... |
ORPHA:365 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Encephalocele, Frontal bossing, Agyria, Optic nerve hypoplasia, Type II lissencephaly, Partial ag... |
OMIM:614643 |
| Trichorhinophalangeal Syndrome, Type Ii |
|
Mandibular prognathia, Osteopenia, Prominent nose, Bilateral cryptorchidism, Micrognathia, Deep p... |
OMIM:150230 |
| Benign Recurrent Intrahepatic Cholestasis |
|
Elevated hepatic transaminase, Jaundice, Weight loss, Acholic stools, Cholestatic liver disease, ... |
ORPHA:65682 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Bifid scrotum, Back pain, High, narrow palate, Synophrys, Abnormal curvature of the vertebral col... |
OMIM:619475 |
| Pseudoachondroplasia |
|
Limited hip extension, Genu recurvatum, Delayed epiphyseal ossification, Osteoarthritis, Genu var... |
OMIM:177170 |
| Huntington Disease-Like 2 |
|
Cerebral cortical atrophy, Weight loss |
OMIM:606438 |
| Renpenning Syndrome 1 |
|
Mandibular prognathia, Brittle hair, Micrognathia, Brachycephaly, High palate, Short philtrum, Sp... |
OMIM:309500 |
| Meier-Gorlin Syndrome 5 |
|
Prominent metopic ridge, Micrognathia, Microcephaly, Cryptorchidism, Hypoplasia of the maxilla, S... |
OMIM:613805 |
| Acute Monoblastic/Monocytic Leukemia |
|
Bone marrow hypercellularity, Acute monocytic leukemia, Ankle swelling, Leukocytosis, Cervical ly... |
ORPHA:514 |
| X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Kyphosis, Scoliosis |
ORPHA:101075 |
| Delpire-Mcneill Syndrome |
|
Cortical dysplasia, Agenesis of corpus callosum, Hip dislocation |
OMIM:619083 |
| Waardenburg Syndrome Type 2 |
|
Hypopigmentation of hair, Hypopigmented skin patches, Premature graying of hair, White forelock, ... |
ORPHA:895 |
| Carnitine Palmitoyltransferase Ii Deficiency |
|
Hepatomegaly, Cerebral calcification, Cerebellar vermis hypoplasia, Abnormal basal ganglia morpho... |
ORPHA:157 |
| Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Joint dislocation, Arthropathy, Limited hip extension, Genu recurvatum, Short neck, Flexion contr... |
OMIM:143095 |
| Cleidocranial Dysplasia 2 |
|
Osteopenia, Delayed eruption of primary teeth, Aplastic clavicle, Hypoplasia of the maxilla, Wide... |
OMIM:620099 |
| Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features |
|
Hypospadias, Prominent nasal bridge, Trichiasis, Micrognathia, Sparse eyebrow, Kyphosis, Pectus e... |
OMIM:609944 |
| Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Frontal bossing, Microcephaly, Bulbous nose, Simplified gyral pattern, Colpocephaly, Lissencephal... |
OMIM:615219 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Male infertility, Hepatomegaly, Primary testicular failure, Weight loss, Oligozoospermia, Hepatos... |
ORPHA:85450 |
| Spondyloepimetaphyseal Dysplasia, Genevieve Type |
|
Reduced cerebral white matter volume, Short neck, Synophrys, Low anterior hairline, Brachycephaly... |
OMIM:610442 |
| Duane Retraction Syndrome |
|
Aplasia/Hypoplasia of the thumb, Central heterochromia, Patchy hypopigmentation of hair, Antevert... |
ORPHA:233 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Osteopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Abnormality of the endocrin... |
ORPHA:391487 |
| Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Wide nose, Short lingual frenulum, Abnormal fingernail morphology, Supernumerary nipple, Broad na... |
ORPHA:1521 |
| Autosomal Dominant Kenny-Caffey Syndrome |
|
Delayed cranial suture closure, Persistence of primary teeth, Carious teeth, Basal ganglia calcif... |
ORPHA:93325 |
| Spinal Arteriovenous Metameric Syndrome |
|
Abnormal spinal cord morphology, Spinal arteriovenous malformation |
ORPHA:53721 |
| Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Microcephaly, Kyphosis, Cerebral atrophy, Hypoplasia of the corpus callosum, Hyperintensity of ce... |
ORPHA:500180 |
| Huntington Disease-Like 1 |
|
Gliosis, Cerebral cortical atrophy, Abnormal basal ganglia morphology, Weight loss |
ORPHA:157941 |
| Hunter-Macdonald Syndrome |
|
Thin upper lip vermilion, Hypospadias, Cubitus valgus, Patent ductus arteriosus, Premature osteoa... |
OMIM:611962 |
| Hermansky-Pudlak Syndrome |
|
Hypopigmentation of hair, Menometrorrhagia, Partial albinism, Epistaxis, Abnormal dental enamel m... |
ORPHA:79430 |
| Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Joint dislocation, Generalized joint laxity, Brachycephaly, High palate, Microretrognathia, Joint... |
OMIM:601776 |
| Cerebrotendinous Xanthomatosis |
|
Osteoporosis, Cerebral atrophy, Ankle clonus, Cholelithiasis, Abnormal periventricular white matt... |
OMIM:213700 |
| Myelofibrosis |
|
Myelofibrosis, Splenomegaly, Myeloproliferative disorder |
OMIM:254450 |
| Frasier Syndrome |
|
Streak ovary, Hypergonadotropic hypogonadism, Male pseudohermaphroditism, Increased circulating g... |
ORPHA:347 |
| Chronic Beryllium Disease |
|
Lymphocytic interstitial pneumonia, Mediastinal lymphadenopathy, Hypersensitivity pneumonitis, We... |
ORPHA:133 |
| Albinism, Oculocutaneous, Type Ii |
|
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue irides, Red hair, Hypopig... |
OMIM:203200 |
| Neurooculorenal Syndrome |
|
Decreased circulating cortisol level, Cerebellar vermis hypoplasia, Ectopic posterior pituitary, ... |
OMIM:620305 |
| Weismann-Netter Syndrome |
|
Abnormality of the thyroid gland, Kyphosis, Abnormal form of the vertebral bodies, Aplasia/Hypopl... |
ORPHA:3344 |
| Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Dental crowding, Short neck, Short metatarsal, Brachycephaly, High palate, Sparse hair, Frontal h... |
OMIM:617157 |
| Atypical Rett Syndrome |
|
Kyphosis, Small hand, Short foot, Secondary microcephaly, Scoliosis |
ORPHA:3095 |
| Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Delayed eruption of primary teeth, Thyroid C cell hyperplasia, Hyperpigmented streaks, Lateral ve... |
OMIM:300952 |
| Woolly Hair |
|
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair... |
ORPHA:170 |
| Floating-Harbor Syndrome |
|
Prominent nose, Short neck, Short middle phalanx of the 2nd finger, Glandular hypospadias, Downtu... |
OMIM:136140 |
| Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Osteopenia, Hepatomegaly, Decreased serum insulin-like growth factor 1, Autoimmune thrombocytopen... |
ORPHA:77293 |
| Sarcoidosis |
|
Abnormal nasal mucosa morphology, Increased T cell count, Abnormal lung morphology, Leukopenia, E... |
ORPHA:797 |
| Acromegaly |
|
Mandibular prognathia, Dysmenorrhea, Synophrys, Wide penis, Osteoarthritis, Widely spaced teeth, ... |
ORPHA:963 |
| Wolfram Syndrome 1 |
|
Sideroblastic anemia, Diabetes mellitus, Diabetes insipidus, Megaloblastic anemia, Cerebral atrop... |
OMIM:222300 |
| Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
| Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Pericallosal lipoma, Sparse eyelashes, Camptodactyly of finger, Underdeveloped nasal alae, Sparse... |
ORPHA:306542 |
| Chronic Hiccup |
|
Weight loss |
ORPHA:396 |
| Osteogenesis Imperfecta, Type Vii |
|
Osteopenia, Wide cranial sutures, Rhizomelia, Recurrent fractures, Micromelia, Hypoplastic pulmon... |
OMIM:610682 |
| Cutis Laxa, Autosomal Dominant 3 |
|
Os odontoideum, Osteopenia, Joint laxity, Microcephaly, Hip dislocation, Wormian bones, Delayed c... |
OMIM:616603 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Osteopenia, Erosion of oral mucosa, Foot joint contracture, Oral mucosal blisters, Carious teeth,... |
ORPHA:79408 |
| Osteogenesis Imperfecta, Type Iv |
|
Otosclerosis, Biconcave flattened vertebrae, Recurrent fractures, Kyphosis, Reduced bone mineral ... |
OMIM:166220 |
| Somatomammotropinoma |
|
Mandibular prognathia, Dysmenorrhea, Synophrys, Osteoarthritis, Widely spaced teeth, Pituitary pr... |
ORPHA:314769 |
| Okamoto Syndrome |
|
Tented upper lip vermilion, Downturned corners of mouth, Exaggerated median tongue furrow, Promin... |
ORPHA:2729 |
| Hypogonadism, Male |
|
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy |
OMIM:241100 |
| Late-Onset Isolated Acth Deficiency |
|
Hypoparathyroidism, Normocytic anemia, Decreased circulating cortisol level, Premature ovarian in... |
ORPHA:199299 |
| Sotos Syndrome |
|
Cerebellar vermis hypoplasia, No permanent dentition, Flexion contracture, Increased head circumf... |
ORPHA:821 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Frontal bossing, Thoracic scoliosis, Megalencephaly, Kyphosis, Thick corpus callosum, Knee flexio... |
OMIM:603387 |
| Isolated Succinate-Coq Reductase Deficiency |
|
Knee flexion contracture, Pigmentary retinopathy, Weight loss, Mild microcephaly |
ORPHA:3208 |
| Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Micromelia, Short neck, Micrognathia, Depressed nasal ridge, Knee flexion contracture, Abnormal c... |
OMIM:271665 |
| Cystinosis, Nephropathic |
|
Male infertility, Frontal bossing, Hypopigmentation of hair, Cerebral calcification, Failure to t... |
OMIM:219800 |
| Spastic Paraplegia 53, Autosomal Recessive |
|
Kyphosis, Joint hyperflexibility, Hypertrichosis |
OMIM:614898 |
| Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... |
ORPHA:555874 |
| Bruck Syndrome 2 |
|
Osteopenia, Flexion contracture, Elbow flexion contracture, Increased susceptibility to fractures... |
OMIM:609220 |
| Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Osteopenia, Osteoporosis, Increased susceptibility to fractures |
OMIM:612287 |
| Faundes-Banka Syndrome |
|
Sparse scalp hair, Frontal bossing, Thin upper lip vermilion, Joint hypermobility, Premature thel... |
OMIM:619376 |
| Takayasu Arteritis |
|
Arthritis, Anemia, Weight loss |
ORPHA:3287 |
| Peters Plus Syndrome |
|
Micromelia, Short neck, Micrognathia, Brachycephaly, Clitoral hypoplasia, Abnormal pulmonary vein... |
ORPHA:709 |
| X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Kyphosis, Scoliosis |
ORPHA:101078 |
| Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Osteopenia, Osteoporosis, Increased susceptibility to fractures |
OMIM:612286 |
| Elejalde Neuroectodermal Melanolysosomal Syndrome |
|
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan... |
OMIM:256710 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Hypospadias, Absent septum pellucidum, Ovotestis, Microcephaly, Cleft palate, Hypoplasia of the u... |
OMIM:309801 |
| Addison Disease |
|
Normocytic anemia, Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasi... |
ORPHA:85138 |
| Giant Cell Arteritis |
|
Glossitis, Alopecia, Epistaxis, Abnormal pleura morphology, Joint stiffness, Recurrent pharyngiti... |
ORPHA:397 |
| Liver Disease, Severe Congenital |
|
Dry hair, Micrognathia, Biliary hyperplasia, Leukopenia, Lymphocytosis, Elevated hepatic iron con... |
OMIM:619991 |
| Isaacs Syndrome |
|
Weight loss |
ORPHA:84142 |
| Johanson-Blizzard Syndrome |
|
Convex nasal ridge, Downturned corners of mouth, Hepatic fibrosis, Hypoplasia of the primary teet... |
OMIM:243800 |
| Cockayne Syndrome Type 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Cerebral white matter atrophy, Dry hair, Carious tee... |
ORPHA:90324 |
| X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Hyperlordosis, Short neck, Kyphosis, Spinal rigidity, Pectus excavatum, Joint stiffnes... |
ORPHA:98863 |
| Holt-Oram Syndrome |
|
Absent thumb, Pectus excavatum, Kyphosis, Patent ductus arteriosus, Joint stiffness, Anomalous pu... |
ORPHA:392 |
| Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Mandibular prognathia, Frontal bossing, Joint laxity, Prominent nasal bridge, Megalencephaly, Lar... |
OMIM:617011 |
| Graves Disease, Susceptibility To, 1 |
|
Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Increas... |
OMIM:275000 |
| Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Hyperlordosis, Spinal rigidity, Kyphosis, Pectus excavatum, Joint stiffness, Achilles ... |
ORPHA:98855 |
| Erdheim-Chester Disease |
|
Increased bone mineral density, Osteomyelitis, Hypogonadotropic hypogonadism, Retroperitoneal fib... |
ORPHA:35687 |
| Myopathy, Centronuclear, 2 |
|
Hyperlordosis, Kyphosis, Flexion contracture, High palate, Scoliosis |
OMIM:255200 |
| Pancreatic Triacylglycerol Lipase Deficiency |
|
Osteomalacia, Osteoporosis, Rickets, Weight loss, Iron deficiency anemia, Exocrine pancreatic ins... |
ORPHA:309031 |
| Pyruvate Carboxylase Deficiency |
|
Hepatomegaly, Cerebral white matter atrophy, Cerebellar gliosis, Periventricular cysts, Increased... |
ORPHA:3008 |
| Stormorken Syndrome |
|
Howell-Jolly bodies, Epistaxis, Prominent nose, Asplenia, Thrombocytopenia, Short philtrum, Hypop... |
OMIM:185070 |
| X-Linked Intellectual Disability, Armfield Type |
|
Mandibular prognathia, Midface retrusion, Depressed nasal bridge, Micrognathia, Cryptorchidism, P... |
ORPHA:85276 |
| Hyperzincemia With Functional Zinc Depletion |
|
Hepatomegaly, Osteoporosis |
OMIM:601979 |
| Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Hepatomegaly, Prominent nasal bridge, Unde... |
ORPHA:163746 |
| Branchiooculofacial Syndrome |
|
Short neck, Micrognathia, Premature graying of hair, Sparse hair, Ectopic thymus tissue, Agenesis... |
OMIM:113620 |
| Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Cleft palate, Polycystic ovaries, Failure to thrive, Agenesis of corpus callosum, P... |
ORPHA:137675 |
| Isolated Exencephaly |
|
Depressed nasal bridge, Anterior pituitary hypoplasia, Maternal diabetes, Abnormal facial skeleto... |
ORPHA:563612 |
| Glycogen Storage Disease Ia |
|
Elevated hepatic transaminase, Hepatomegaly, Delayed puberty, Osteoporosis, Gout, Hepatocellular ... |
OMIM:232200 |
| Piebald Trait-Neurologic Defects Syndrome |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelash morphology, Hypopigmented... |
ORPHA:2885 |
| Familial Glucocorticoid Deficiency |
|
Decreased circulating dehydroepiandrosterone concentration, Decreased circulating cortisol level,... |
ORPHA:361 |
| Solitary Bone Cyst |
|
Abnormal spinal cord morphology |
ORPHA:83468 |
| Mosaic Trisomy 20 |
|
Vertebral fusion, Micrognathia, Cryptorchidism, Kyphosis, Cleft lip, Spinal canal stenosis, Cleft... |
ORPHA:1724 |
| Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Abnormality of the tongue, Weight loss, Increased susceptibility to fractures, Pigmentary retinop... |
ORPHA:216866 |
| Caroli Disease |
|
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Splenomegaly, ... |
ORPHA:53035 |
| Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Hyperlordosis, Spinal rigidity, Kyphosis, Pectus excavatum, Joint stiffness, Achilles ... |
ORPHA:261 |
| Mycophenolate Mofetil Embryopathy |
|
Micrognathia, Hypoplastic toenails, Orofacial cleft, Bifid thoracic vertebrae, Bifid nose, Short ... |
ORPHA:268249 |
| Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Hyperlordosis, Spinal rigidity, Kyphosis, Pectus excavatum, Joint stiffness, Achilles ... |
ORPHA:98853 |
| Triosephosphate Isomerase Deficiency |
|
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Kyphosis, Splenomegaly, Jaundice, Cerebra... |
OMIM:615512 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Elbow flexion contracture, Abnormal cerebral white matter morphology, Kyphosis |
OMIM:618138 |
| Generalized Pseudohypoaldosteronism Type 1 |
|
Osteomyelitis, Failure to thrive in infancy, Glucocortocoid-insensitive primary hyperaldosteronis... |
ORPHA:171876 |
| Spinocerebellar Ataxia 32 |
|
Azoospermia, Testicular atrophy, Infertility |
OMIM:613909 |
| Familial Pancreatic Carcinoma |
|
Back pain, Elevated hepatic transaminase, Pancreatic adenocarcinoma, Diabetes mellitus, Jaundice,... |
ORPHA:1333 |
| Spinocerebellar Ataxia Type 32 |
|
Male infertility, Azoospermia, Testicular atrophy |
ORPHA:276183 |
| Specc1L-Related Hypertelorism Syndrome |
|
Prominent nasal bridge, Highly arched eyebrow, Pectus excavatum, Cryptorchidism, Widow's peak, Pa... |
ORPHA:1519 |
| Immunodeficiency 31C |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an... |
OMIM:614162 |
| Viss Syndrome |
|
Micrognathia, High, narrow palate, Generalized joint laxity, Brachycephaly, High palate, Broad uv... |
OMIM:619472 |
| Chromosome 14Q32 Duplication Syndrome, 700-Kb |
|
Acute myeloid leukemia, Myelofibrosis, Chronic myelomonocytic leukemia |
OMIM:616604 |
| Grant Syndrome |
|
Wormian bones, Micrognathia |
OMIM:138930 |
| Distal 16P11.2 Microdeletion Syndrome |
|
Prominent nasal bridge, Kyphosis, Low anterior hairline, Obesity, Narrow mouth |
ORPHA:261222 |
| Mucolipidosis Iii Gamma |
|
Joint stiffness, Hyperlordosis, Kyphosis, Short neck, Genu valgum, Scoliosis |
OMIM:252605 |
| Kennedy Disease |
|
Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction |
ORPHA:481 |
| Anaplastic Thyroid Carcinoma |
|
Lymphadenopathy, Weight loss, Neoplasm of the lung, Anaplastic thyroid carcinoma, Nodular goiter,... |
ORPHA:142 |
| Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Cachexia, Short palm |
ORPHA:3217 |
| Right Atrial Isomerism |
|
Asplenia, Abnormal lung lobation, Agenesis of corpus callosum, Total anomalous pulmonary venous r... |
OMIM:208530 |
| Osteootohepatoenteric Syndrome |
|
Recurrent fractures, Microvesicular hepatic steatosis, Cholestasis, Weight loss, Reduced bone min... |
OMIM:619377 |
| Classic Phenylketonuria |
|
Hypopigmentation of hair, Cerebral calcification, Hypopigmentation of the skin, Microcephaly |
ORPHA:79254 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Sinusitis, Nasal polyposis, Eosinophilia, Recurrent intrapulmonary hemorrhage, Abnormal pleura mo... |
ORPHA:183 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Fused labia majora, Decreased circulating cortisol level, Ambiguous genitalia, female, Abnormal o... |
ORPHA:90794 |
| Medullary Thyroid Carcinoma |
|
Primary hyperparathyroidism, Weight loss, Lymphadenopathy, Abnormal liver parenchyma morphology, ... |
ORPHA:1332 |
| Q Fever |
|
Elevated hepatic transaminase, Hepatomegaly, Osteomyelitis, Pneumonia, Splenomegaly, Hepatitis, A... |
ORPHA:781 |
| Attrv30M Amyloidosis |
|
Impotence, Weight loss |
ORPHA:85447 |
| Chiari Malformation Type Ii |
|
Cervical myelopathy, Myelomeningocele, Agenesis of corpus callosum, Spina bifida |
OMIM:207950 |
| Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre... |
OMIM:609734 |
| Rett Syndrome, Congenital Variant |
|
Thin upper lip vermilion, Depressed nasal bridge, Kyphosis, Bulbous nose, Simplified gyral patter... |
OMIM:613454 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Microcephaly, Leukocytosis, Jaun... |
ORPHA:20 |
| Idiopathic Chronic Eosinophilic Pneumonia |
|
Hypersensitivity pneumonitis, Atelectasis, Leukocytosis, Hypereosinophilia, Weight loss, Pleural ... |
ORPHA:2902 |
| Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Alopecia, Hypopigmentation of hair |
ORPHA:1067 |
| Holoprosencephaly 2 |
|
Aplasia of the nasal bone, Diabetes insipidus, Aplasia of the premaxilla, Proboscis, Microcephaly... |
OMIM:157170 |
| Beckwith-Wiedemann Syndrome |
|
Mandibular prognathia, Large for gestational age, Hepatoblastoma, Polycythemia, Hypothyroidism, H... |
ORPHA:116 |
| Congenital Fiber-Type Disproportion Myopathy |
|
Recurrent respiratory infections, Hip contracture, Flexion contracture of finger, Dental crowding... |
ORPHA:2020 |
| Pseudomyxoma Peritonei |
|
Abnormal peritoneum morphology, Lymphadenopathy, Weight loss |
ORPHA:26790 |
| Diffuse Alveolar Hemorrhage |
|
Leukocytosis, Weight loss, Anemia, Pulmonary fibrosis, Irregular septal thickening on pulmonary H... |
ORPHA:90060 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Delayed eruption of teeth, Hepatomegaly, Recurrent respiratory infections, Recurrent fractures, C... |
ORPHA:667 |
| Hydrocephalus, Congenital, X-Linked |
|
Corticospinal tract hypoplasia, Agenesis of corpus callosum, Absent septum pellucidum, Macrocephaly |
OMIM:307000 |
| Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Kyphosis, Scoliosis |
OMIM:610743 |
| Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus |
|
Partial agenesis of the corpus callosum, Thin corpus callosum |
OMIM:619653 |
| Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Back pain, Barrel-shaped chest, Lumbar hyperlordosis, Short neck, Kyphosis, Limitation of joint m... |
OMIM:313400 |
| Lymphoid Interstitial Pneumonia |
|
Hepatomegaly, Multiple pulmonary cysts, Respiratory tract infection, Mediastinal lymphadenopathy,... |
ORPHA:79128 |
| Orofaciodigital Syndrome Iii |
|
Hyperconvex nail, Pectus excavatum, Kyphosis, Bulbous nose, Supernumerary tooth, Tongue nodules, ... |
OMIM:258850 |
| Toxic Epidermal Necrolysis |
|
Acute hepatic failure, Elevated hepatic transaminase, Recurrent respiratory infections, Abnormal ... |
ORPHA:537 |
| Igg4-Related Retroperitoneal Fibrosis |
|
Normocytic anemia, Low back pain, Hashimoto thyroiditis, Renal tubular epithelial necrosis, Weigh... |
ORPHA:49041 |
| Townes-Brocks Syndrome |
|
Bifid scrotum, Hypoplasia of penis, Rectoperineal fistula, Hypospadias, Failure to thrive, Crypto... |
ORPHA:857 |
| Eosinophilic Fasciitis |
|
Arthritis, Abnormal eosinophil morphology, Eosinophilia, Weight loss |
ORPHA:3165 |
| Intellectual Disability-Developmental Delay-Contractures Syndrome |
|
Kyphosis, Limitation of joint mobility, Scoliosis, Congenital foot contractures |
ORPHA:3454 |
| Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Acute hepatic failure, Elevated hepatic transaminase, Eosinophilia, Enanthema, Hepatitis, Thyroid... |
ORPHA:139402 |
| Primary Hepatic Neuroendocrine Carcinoma |
|
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Chr... |
ORPHA:100085 |
| Holocarboxylase Synthetase Deficiency |
|
Alopecia, Thrombocytopenia, Weight loss |
ORPHA:79242 |
| Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Testicular atrophy, Decreased fertility |
OMIM:313200 |
| Microphthalmia, Syndromic 6 |
|
Small scrotum, Adrenal hypoplasia, Micrognathia, Brachycephaly, High palate, Abnormality of the h... |
OMIM:607932 |
| Al Amyloidosis |
|
Hepatomegaly, Howell-Jolly bodies, Abnormal pulmonary interstitial morphology, Pulmonary intersti... |
ORPHA:85443 |
| Acrodermatitis Enteropathica |
|
Ridged nail, Abnormal eyebrow morphology, Alopecia, Paronychia, Abnormality of the tongue, Cheili... |
ORPHA:37 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,... |
OMIM:619313 |
| Saethre-Chotzen Syndrome |
|
Absent first metatarsal, Delayed cranial suture closure, Long nose, Parietal foramina, Hypoplasia... |
OMIM:101400 |
| Central Diabetes Insipidus |
|
Failure to thrive, Diabetes insipidus, Weight loss |
ORPHA:178029 |
| Bronchial Neuroendocrine Tumor |
|
Hepatomegaly, Chronic noninfectious lymphadenopathy, Elevated circulating growth hormone concentr... |
ORPHA:97287 |
| Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Respiratory tract infection, Hypersensitivity pneumonitis, Bronchiectasis, Weight loss, Honeycomb... |
ORPHA:79127 |
| Osteogenesis Imperfecta, Type I |
|
Osteopenia, Otosclerosis, Recurrent fractures, Biconcave flattened vertebrae, Increased susceptib... |
OMIM:166200 |
| Osteosarcoma |
|
Pathologic fracture, Joint swelling, Osteolysis, Weight loss |
ORPHA:668 |
| Adrenocortical Carcinoma |
|
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... |
ORPHA:1501 |
| Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Delayed eruption of teeth, Hypopigmentation of hair, Macrodontia, High, narrow palate, Hypopigmen... |
ORPHA:3214 |
| Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Pneumothorax, Bronchiectasis, Lymphadenopathy, Weight loss, Pleural effusion |
ORPHA:411703 |
| Paroxysmal Nocturnal Hemoglobinuria |
|
Hemolytic anemia, Reticulocytosis, Pancytopenia, Abnormal erythrocyte enzyme level, Thrombocytope... |
ORPHA:447 |
| Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
|
Agenesis of corpus callosum, Absent septum pellucidum, Joint stiffness |
ORPHA:2182 |
| Kikuchi-Fujimoto Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Alopecia, Generalized lymphadenopathy, Thrombocytope... |
ORPHA:50918 |
| Polymyositis |
|
Hepatomegaly, Abnormal pulmonary interstitial morphology, Weight loss, Arthritis, Pulmonary fibro... |
ORPHA:732 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
11 pairs of ribs, Occipital encephalocele, Agenesis of cerebellar vermis, Absent septum pellucidu... |
OMIM:615287 |
| Ermine Phenotype |
|
Hypopigmentation of hair, Abnormality of the nose, Microcephaly, Ocular albinism, Hypopigmented s... |
ORPHA:999 |
| Ramon Syndrome |
|
Delayed eruption of teeth, Enlarged labia minora, Kyphosis, Gingival fibromatosis, Narrow palate,... |
OMIM:266270 |
| Multiple Endocrine Neoplasia, Type Iib |
|
Joint laxity, Failure to thrive in infancy, Hyperlordosis, Pectus excavatum, Kyphosis, High, narr... |
OMIM:162300 |
| Cryptogenic Organizing Pneumonia |
|
Pneumothorax, Leukocytosis, Neutrophilia, Weight loss |
ORPHA:1302 |
| Holoprosencephaly 14 |
|
Frontal bossing, Median cleft lip, Anteverted nares, Absent septum pellucidum, Proboscis, Microce... |
OMIM:619895 |
| Budd-Chiari Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Portal hypertension, Splenome... |
ORPHA:131 |
| Hereditary Central Diabetes Insipidus |
|
Diabetes insipidus, Weight loss |
ORPHA:30925 |
| X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Kyphosis, Scoliosis |
ORPHA:99014 |
| Primary Intestinal Lymphangiectasia |
|
Peritoneal effusion, Weight loss, Abnormal lymphatic vessel morphology, Pleural effusion, Decreas... |
ORPHA:90362 |
| Granulomatosis With Polyangiitis |
|
Sinusitis, Diffuse alveolar hemorrhage, Oral ulcer, Localized pulmonary hemorrhage, Weight loss, ... |
OMIM:608710 |
| Oromandibular Dystonia |
|
Abnormality of the temporomandibular joint, Abnormality of the nose, Abnormal mandible morphology... |
ORPHA:93958 |
| Pulmonary Alveolar Microlithiasis |
|
Hepatomegaly, Bronchitis, Respiratory tract infection, Pleural thickening, Pneumothorax, Decrease... |
ORPHA:60025 |
| Familial Colorectal Cancer Type X |
|
Neoplasm of the pancreas, Pancreatic adenocarcinoma, Pituitary adenoma, Flexion contracture, Ovar... |
ORPHA:440437 |
| Inflammatory Pseudotumor Of The Liver |
|
Diabetes mellitus, Elevated circulating aspartate aminotransferase concentration, Abnormal liver ... |
ORPHA:90003 |
| Multiple Endocrine Neoplasia Type 1 |
|
Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic endocrine t... |
ORPHA:652 |
| Thymic Carcinoma |
|
Neoplasm of the thymus, Mediastinal lymphadenopathy, Weight loss |
ORPHA:99868 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, Osteomyelitis, Pneumonia, Bronchitis, Follicular hyperplas... |
OMIM:619381 |
| Congenital Tufting Enteropathy |
|
Choanal atresia, Orofacial cleft, Weight loss, Arthritis, Cholestatic liver disease, Failure to t... |
ORPHA:92050 |
| Neurofibromatosis Type 1 |
|
Pheochromocytoma, Heterochromia iridis, Genu varum, Precocious puberty, Cryptorchidism, Abnormali... |
ORPHA:636 |
| Eosinophilic Gastroenteritis |
|
Eosinophilia, Allergic rhinitis, Leukocytosis, Weight loss, Anemia |
ORPHA:2070 |
| Lynch Syndrome |
|
Neoplasm of the pancreas, Pancreatic adenocarcinoma, Pituitary adenoma, Flexion contracture, Weig... |
ORPHA:144 |
| Wild Type Attr Amyloidosis |
|
Hepatomegaly, Abnormal pulmonary interstitial morphology, Weight loss, Pleural effusion, Pulmonar... |
ORPHA:330001 |
| Neuromuscular Oculoauditory Syndrome |
|
Retinal pigment epithelial mottling, Agenesis of corpus callosum, Wrist flexion contracture, Knee... |
OMIM:618733 |
| Non-Functioning Paraganglioma |
|
Paraganglioma of head and neck, Paraganglioma, Weight loss |
ORPHA:94080 |
| Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Elevated circulati... |
ORPHA:572333 |
| Hirschsprung Disease |
|
Neoplasm of the thyroid gland, Failure to thrive in infancy, Weight loss |
ORPHA:388 |
| Acute Adrenal Insufficiency |
|
Normocytic anemia, Decreased circulating cortisol level, Decreased female libido, Adrenal hypopla... |
ORPHA:95409 |
| Lowe Oculocerebrorenal Syndrome |
|
Osteomalacia, Camptodactyly of finger, Wrist swelling, Cryptorchidism, Kyphosis, Rickets, Periven... |
OMIM:309000 |
| Marfanoid Habitus With Situs Inversus |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Genu recurvatum, Kyphosis, Scoliosis |
OMIM:609008 |
| Heterotaxy, Visceral, 2, Autosomal |
|
Microcephaly, Asplenia, Abdominal situs inversus, Polysplenia, Agenesis of corpus callosum |
OMIM:605376 |
| Hypercalcemia, Infantile, 1 |
|
Failure to thrive, Decreased circulating parathyroid hormone level, Weight loss |
OMIM:143880 |
| Yao Syndrome |
|
Arthritis, Pleuritis, Oral ulcer, Weight loss |
OMIM:617321 |
| Systemic Capillary Leak Syndrome |
|
Leukocytosis, Weight loss, Pleural effusion, Pancreatitis, Pulmonary edema |
ORPHA:188 |
| Autosomal Dominant Epidermolytic Ichthyosis |
|
Hyperkeratosis, Palmoplantar keratoderma, Weight loss |
ORPHA:312 |
| Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Aphthous ulcer, Recurrent aphthous stomatitis, Weight loss |
OMIM:266600 |
| Stevens-Johnson Syndrome |
|
Acute hepatic failure, Dyspareunia, Elevated hepatic transaminase, Recurrent respiratory infectio... |
ORPHA:36426 |
| Pneumocystosis |
|
Multiple pulmonary cysts, Abnormal neutrophil count, Weight loss, Acute infectious pneumonia, Int... |
ORPHA:723 |
| Alström Syndrome |
|
Thoracic scoliosis, Abnormality of dental color, Decreased response to growth hormone stimulation... |
ORPHA:64 |
| Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 |
|
Hyperextensibility of the finger joints, Hyperlordosis, Kyphosis, Hip dislocation, Joint subluxat... |
OMIM:617821 |
| Hermansky-Pudlak Syndrome 1 |
|
Hypopigmentation of hair, Freckles in sun-exposed areas, Epistaxis, Albinism, Ocular albinism, Me... |
OMIM:203300 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Vertebral fusion, Hyperlordosis, Kyphosis, Achilles tendon contracture, Macroglossia, Scoliosis |
OMIM:607155 |
| Carney Complex, Type 1 |
|
Elevated circulating growth hormone concentration, Palatine myxoma, Pituitary adenoma, Pheochromo... |
OMIM:160980 |
| Nephroblastoma |
|
Neoplasm of the lung, Neoplasm of the liver, Lymphadenopathy, Weight loss |
ORPHA:654 |
| Multiple Myeloma |
|
Osteopenia, Splenomegaly, Lymphadenopathy, Weight loss, Pleural effusion, Pathologic fracture, Ve... |
ORPHA:29073 |
| Peritoneal Cystic Mesothelioma |
|
Dyspareunia, Metrorrhagia, Peritonitis, Weight loss, Menorrhagia |
ORPHA:168816 |
| Granulomatosis With Polyangiitis |
|
Recurrent respiratory infections, Sinusitis, Diabetes insipidus, Epistaxis, Recurrent intrapulmon... |
ORPHA:900 |
| Polyarteritis Nodosa |
|
Abnormal lung morphology, Pleuritis, Weight loss |
ORPHA:767 |
| Amoebiasis Due To Entamoeba Histolytica |
|
Elevated hepatic transaminase, Liver abscess, Lung abscess, Leukocytosis, Weight loss, Pleural em... |
ORPHA:67 |
| Developmental Malformations-Deafness-Dystonia Syndrome |
|
Hypoplastic scapulae, Micromelia, Kyphosis, Orofacial cleft, Macroglossia, Scoliosis |
ORPHA:79107 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Hyperth... |
OMIM:613239 |
| Vipoma |
|
Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Follicular thyroid carcinoma, Elevated... |
ORPHA:97282 |
| Glucagonoma |
|
Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Stomatitis, Elevated circulating growt... |
ORPHA:97280 |
| Secondary Short Bowel Syndrome |
|
Cholestasis, Central hypothyroidism, Weight loss, Primary hypothyroidism, Failure to thrive |
ORPHA:95427 |
| Grfoma |
|
Neoplasm of the pancreas, Hepatomegaly, Elevated circulating growth hormone concentration, Neopla... |
ORPHA:97261 |
| Igg4-Related Aortitis |
|
Low back pain, Hypereosinophilia, Weight loss |
ORPHA:449400 |
| Somatostatinoma |
|
Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Elevated circulating growth hormone co... |
ORPHA:97283 |
| X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Recurrent respiratory infections, Tracheobronchial leiomyomatosis, Vaginal neoplasm, Abnormality ... |
ORPHA:1018 |
| Cutaneous Telangiectasia And Cancer Syndrome, Familial |
|
Ridged nail, Alopecia, Yellow nails, Carious teeth, Conical incisor, Onycholysis, Nail dystrophy,... |
OMIM:614564 |
| Steinert Myotonic Dystrophy |
|
Tented upper lip vermilion, Decreased response to growth hormone stimulation test, Non-medullary ... |
ORPHA:273 |
| Medulloblastoma |
|
Back pain, Elevated hepatic transaminase, Progressive macrocephaly, Neoplasm of the lung, Abnorma... |
ORPHA:616 |
| Focal Myositis |
|
Limitation of joint mobility, Weight loss |
ORPHA:48918 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Turricephaly, Short metacarpal, Rhizomelic arm shortening, Platyspondyly, Cerebellar hypoplasia, ... |
ORPHA:93317 |
| Neuroendocrine Tumor Of The Colon |
|
Elevated hepatic transaminase, Hepatomegaly, Chronic noninfectious lymphadenopathy, Weight loss, ... |
ORPHA:100080 |
| Holoprosencephaly 1 |
|
Diabetes insipidus, Proboscis, Microcephaly, Adrenal hypoplasia, Cerebellar hypoplasia, Aplasia o... |
OMIM:236100 |
| Mismatch Repair Cancer Syndrome 1 |
|
Axillary freckling, Agenesis of corpus callosum, Multiple cafe-au-lait spots, Leukemia, Hypopigme... |
OMIM:276300 |
| Neuroendocrine Tumor Of Stomach |
|
Elevated hepatic transaminase, Hepatomegaly, Chronic noninfectious lymphadenopathy, Increased cir... |
ORPHA:100075 |
| Hypermobile Ehlers-Danlos Syndrome |
|
Joint dislocation, Wormian bones, Abnormality of the menstrual cycle, Abnormality of the dentitio... |
ORPHA:285 |
| Autosomal Dominant Cutis Laxa |
|
Osteopenia, Joint laxity, Wormian bones, Genu recurvatum, Delayed cranial suture closure, Microce... |
ORPHA:90348 |
| Tropical Endomyocardial Fibrosis |
|
Splenomegaly, Eosinophilia, Cachexia, Hepatomegaly |
ORPHA:75565 |
| Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies |
|
Thin upper lip vermilion, Short fourth metatarsal, Hip subluxation, Kyphosis, Synophrys, Bilatera... |
OMIM:619557 |
| Brown-Vialetto-Van Laere Syndrome 1 |
|
Recurrent respiratory infections, Tongue atrophy, Kyphosis, Ankle clonus, Tongue fasciculations, ... |
OMIM:211530 |
| Rat-Bite Fever |
|
Back pain, Parotitis, Lymphadenitis, Oligoarthritis, Weight loss, Arthritis, Septic arthritis, Pa... |
ORPHA:31205 |
| Reactive Arthritis |
|
Osteomyelitis, Abnormal pleura morphology, Joint stiffness, Weight loss, Enthesitis, Hyperkeratos... |
ORPHA:29207 |
| Oculocutaneous Albinism Type 4 |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, White hair, Ocular albin... |
ORPHA:79435 |
| Glossopharyngeal Neuralgia |
|
Abnormality of the cervical spine, Mandibular pain, Weight loss, Tongue pain, Abnormal palate mor... |
ORPHA:221098 |
| Beta-Ketothiolase Deficiency |
|
Hepatomegaly, Thrombocytosis, Leukocytosis, Weight loss |
ORPHA:134 |
| Lymphedema-Distichiasis Syndrome |
|
Micrognathia, Yellow nails, Kyphosis, Patent ductus arteriosus, Cleft upper lip, Cleft palate, Ch... |
OMIM:153400 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Goiter, Hyperthyroidism, Weight loss |
OMIM:188580 |
| Perry Syndrome |
|
Weight loss |
ORPHA:178509 |
| Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Abnormal spinal cord morphology |
ORPHA:88628 |
| Behçet Disease |
|
Orchitis, Splenomegaly, Oral ulcer, Lymphadenopathy, Weight loss, Arthritis, Recurrent aphthous s... |
ORPHA:117 |
| Neuroendocrine Tumor Of The Rectum |
|
Elevated hepatic transaminase, Hepatomegaly, Chronic noninfectious lymphadenopathy, Weight loss, ... |
ORPHA:100081 |
| Neuroendocrine Tumor Of Anal Canal |
|
Elevated hepatic transaminase, Hepatomegaly, Chronic noninfectious lymphadenopathy, Weight loss, ... |
ORPHA:100082 |
| Chromosome Xq26.3 Duplication Syndrome |
|
Elevated circulating growth hormone concentration, Kyphosis, Pituitary adenoma, Increased circula... |
OMIM:300942 |
| Nodular Non-Suppurative Panniculitis |
|
Hepatomegaly, Splenomegaly, Weight loss |
ORPHA:33577 |
| Loeffler Endocarditis |
|
Eosinophilia, Weight loss |
ORPHA:75566 |
| Simple Cryoglobulinemia |
|
Viral hepatitis, Abnormal lung morphology, Chronic lymphatic leukemia, Weight loss, Arthritis |
ORPHA:91139 |
| Cerebrocostomandibular Syndrome |
|
Cerebral calcification, Spina bifida, Microcephaly, Micrognathia, Kyphosis, Myelomeningocele, Por... |
ORPHA:1393 |
| Brachyolmia Type 3 |
|
Barrel-shaped chest, Short neck, Kyphosis, Platyspondyly, Short femoral neck, Scoliosis |
OMIM:113500 |
| Autosomal Recessive Ataxia, Beauce Type |
|
Ankle clonus, Abnormal cerebral white matter morphology, Kyphosis, Scoliosis |
ORPHA:88644 |
| Rheumatoid Arthritis |
|
Joint stiffness, Weight loss, Joint swelling, Polyarticular arthritis, Rheumatoid arthritis |
OMIM:180300 |
| Scapuloperoneal Spinal Muscular Atrophy |
|
Kyphosis, Small hand, Scoliosis, Hyperlordosis |
OMIM:181405 |
| Autosomal Recessive Cutis Laxa Type 1 |
|
Joint laxity, Delayed cranial suture closure, Microcephaly, Wide anterior fontanel, Pneumothorax,... |
ORPHA:90349 |
| Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Recurrent respiratory infections, Oral ulcer, Weight loss, Iron deficiency anemia, Arthritis, Lym... |
OMIM:301074 |
| Ppoma |
|
Neoplasm of the pancreas, Hepatomegaly, Elevated circulating growth hormone concentration, Abnorm... |
ORPHA:97278 |
| Phace Syndrome |
|
Optic nerve hypoplasia, Microcephaly, Hypothyroidism, Cerebellar hypoplasia, Ectopic thyroid, Age... |
ORPHA:42775 |
| Postencephalitic Parkinsonism |
|
Camptocormia, Open mouth, Abnormal substantia nigra morphology, Kyphosis |
ORPHA:97349 |
| Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Hepatosplenomegaly, Hemophagocytosis, Weight loss |
ORPHA:86884 |
| Renal Nutcracker Syndrome |
|
Dyspareunia, Dysmenorrhea, Vulval varicose vein, Weight loss, Infertility, Varicocele, Anemia |
ORPHA:71273 |
| Craniofacial Microsomia 1 |
|
Occipital encephalocele, Block vertebrae, Micrognathia, Hypoplasia of the maxilla, Cleft upper li... |
OMIM:164210 |
| Igg4-Related Kidney Disease |
|
Eosinophilia, Retroperitoneal fibrosis, Lymphadenitis, Abnormal mesentery morphology, Abnormality... |
ORPHA:449395 |
| Ménétrier Disease |
|
Hypochromic microcytic anemia, Weight loss |
ORPHA:2494 |
| Lesch-Nyhan Syndrome |
|
Testicular atrophy, Podagra, Hip dislocation, Megaloblastic anemia |
OMIM:300322 |
| Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities |
|
Cryptorchidism, Rectoperineal fistula, Agenesis of corpus callosum, Metopic synostosis |
OMIM:618748 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary am... |
OMIM:157640 |
| Neuroblastoma, Susceptibility To, 1 |
|
Failure to thrive, Anemia, Weight loss |
OMIM:256700 |
| Choreoacanthocytosis |
|
Hepatomegaly, Caudate atrophy, Temporomandibular joint crepitus, Elevated circulating aspartate a... |
ORPHA:2388 |
| Pemphigus Vulgaris |
|
Acantholysis, Abnormal oral cavity morphology, Weight loss |
ORPHA:704 |
| Oculocutaneous Albinism Type 3 |
|
White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener... |
ORPHA:79433 |
| Oculocutaneous Albinism Type 2 |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab... |
ORPHA:79432 |
| Malignant Peritoneal Mesothelioma |
|
Peritonitis, Weight loss |
ORPHA:168811 |
| Adrenomyeloneuropathy |
|
Dorsal column degeneration, Atrophy of the spinal cord, Abnormal spinal cord morphology |
ORPHA:139399 |
| Oculocutaneous Albinism Type 1A |
|
Hypopigmentation of hair, Albinism, Ocular albinism, Hyperkeratosis, Freckling, Hypopigmentation ... |
ORPHA:79431 |
| Acute Disseminated Encephalomyelitis |
|
Abnormal spinal cord morphology, Myelitis |
ORPHA:83597 |
| Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Ankle clonus, Kyphosis, Flexion contracture, Scoliosis |
OMIM:609541 |
| Isolated Permanent Neonatal Diabetes Mellitus |
|
Failure to thrive, Prominent metopic ridge, Neonatal insulin-dependent diabetes mellitus, Weight ... |
ORPHA:99885 |
| Bullous Pemphigoid |
|
Diabetes mellitus, Weight loss |
ORPHA:703 |
| Zollinger-Ellison Syndrome |
|
Increased urinary cortisol level, Hyperparathyroidism, Pituitary null cell adenoma, Elevated circ... |
ORPHA:913 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Adrenal pheochromocytoma, Weight l... |
ORPHA:276621 |
| X-Linked Cerebral Adrenoleukodystrophy |
|
Myelopathy, Abnormal spinal cord morphology |
ORPHA:139396 |
| Hereditary Late-Onset Parkinson Disease |
|
Weight loss, Gliosis, Hyposmia, Lewy bodies, Cerebral cortical atrophy |
ORPHA:411602 |
| Postinfectious Vasculitis |
|
Viral hepatitis, Pneumonia, Orchitis, Weight loss, Arthritis, Ischemic stroke, Recurrent streptoc... |
ORPHA:48435 |
| Klatskin Tumor |
|
Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Weight loss, Lymphadenopathy |
ORPHA:99978 |
| Structural Heart Defects And Renal Anomalies Syndrome |
|
Partial agenesis of the corpus callosum, Partial anomalous pulmonary venous return, Microcephaly |
OMIM:617478 |
| Inflammatory Bowel Disease 11 |
|
Weight loss |
OMIM:191390 |
| Dermatomyositis |
|
Abnormal hair quantity, Recurrent respiratory infections, Abnormal eosinophil morphology, Lung ad... |
ORPHA:221 |
| African Trypanosomiasis |
|
Abnormal basal ganglia MRI signal intensity, Hepatomegaly, Alopecia, Abnormality of the menstrual... |
ORPHA:3385 |
| Juvenile Dermatomyositis |
|
Alopecia, Limitation of joint mobility, Weight loss, Arthritis, Pulmonary fibrosis |
ORPHA:93672 |
| Oculocutaneous Albinism Type 1B |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, Melanocytic nevus, Freck... |
ORPHA:79434 |
| Dystonia 1, Torsion, Autosomal Dominant |
|
Kyphosis, Multiple joint contractures, Scoliosis, Hyperlordosis |
OMIM:128100 |
| Gallbladder Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy, Biliary tract neoplasm, Extrahepatic cholestasis, Weight l... |
ORPHA:100086 |
| Myasthenic Syndrome, Congenital, 20, Presynaptic |
|
Kyphosis, Arthrogryposis multiplex congenita, Scoliosis |
OMIM:617143 |
| Fatal Familial Insomnia |
|
Cerebral cortex with spongiform changes, Weight loss |
OMIM:600072 |
| Familial Thrombocytosis |
|
Acute myeloid leukemia, Splenomegaly, Chronic myelogenous leukemia, Weight loss, Thrombocytosis |
ORPHA:71493 |
| Congenital Enterocyte Heparan Sulfate Deficiency |
|
Weight loss |
ORPHA:103910 |
| Malignant Atrophic Papulosis |
|
Pleural effusion, Peritonitis, Ischemic stroke, Weight loss |
ORPHA:679 |
| Cap Polyposis |
|
Weight loss |
ORPHA:160148 |
| Pseudoxanthoma Elasticum, Forme Fruste |
|
Kyphosis, High, narrow palate, High palate, Scoliosis, Calcification of falx cerebri |
OMIM:177850 |
| Perry Syndrome |
|
Weight loss |
OMIM:168605 |
| Ileal Neuroendocrine Tumor |
|
Elevated hepatic transaminase, Extrahepatic cholestasis, Lymphadenopathy, Weight loss, Iron defic... |
ORPHA:100078 |
| Nocardiosis |
|
Liver abscess, Osteomyelitis, Pneumonia, Lymphadenitis, Peritonitis, Pneumothorax, Thyroiditis, W... |
ORPHA:31204 |
| Hereditary Pheochromocytoma-Paraganglioma |
|
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Adrenal pheochromocytoma, Weight l... |
ORPHA:29072 |
| Liposarcoma |
|
Weight loss |
ORPHA:69078 |
| Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Hyperthyroidism, Small for gestational age, Thyrotoxicosis with diffuse goiter, Activating thyroi... |
ORPHA:424 |
| Malt Lymphoma |
|
Recurrent respiratory infections, Abnormality of the thyroid gland, Mediastinal lymphadenopathy, ... |
ORPHA:52417 |
| Limb Body Wall Complex |
|
Ventricular septal defect, Spina bifida, Abnormal spinal cord morphology, Abnormal heart morpholo... |
ORPHA:2369 |
| Pyomyositis |
|
Leukocytosis, Weight loss, Testicular teratoma |
ORPHA:764 |
| Alkaptonuria |
|
Arthropathy, Vertebral fusion, Low back pain, Kyphosis, Limited shoulder movement, Arthritis, Lim... |
OMIM:203500 |
| Igg4-Related Dacryoadenitis And Sialadenitis |
|
Retroperitoneal fibrosis, Enlarged lacrimal glands, Thyroiditis, Weight loss, Enlargement of paro... |
ORPHA:79078 |
| Parkinson Disease 4, Autosomal Dominant |
|
Lewy bodies, Weight loss |
OMIM:605543 |
| Shprintzen Omphalocele Syndrome |
|
Lumbar hyperlordosis, Kyphosis, Flared nostrils, Wide nasal bridge, Short columella, Thin vermili... |
OMIM:182210 |
| Albinism, Oculocutaneous, Type Ia |
|
Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Blue irides, Ocular alb... |
OMIM:203100 |
| Gerstmann-Straussler Disease |
|
Neurofibrillary tangles, Weight loss |
OMIM:137440 |
| Familial Gestational Hyperthyroidism |
|
Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulating hormone recep... |
ORPHA:99819 |
| Superficial Siderosis |
|
Atrophy of the spinal cord, Abnormal spinal cord morphology |
ORPHA:247245 |
| Autosomal Recessive Spastic Paraplegia Type 35 |
|
Corpus callosum atrophy, Kyphosis, Ankle clonus, Eye of the tiger anomaly of globus pallidus, Hyp... |
ORPHA:171629 |
| Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Retinal pigment epithelial mottling, Weight loss |
OMIM:607459 |
| Glucose-Galactose Malabsorption |
|
Failure to thrive, Weight loss |
ORPHA:35710 |
| Tropical Pancreatitis |
|
Pancreatic adenocarcinoma, Maternal diabetes, Insulin-dependent but ketosis-resistant diabetes, J... |
ORPHA:103918 |
| Autoimmune Pulmonary Alveolar Proteinosis |
|
Crazy paving pattern, Intraalveolar phospholipid accumulation, Weight loss |
ORPHA:747 |
| Amoebiasis Due To Free-Living Amoebae |
|
Myocardial necrosis, Abnormal spinal cord morphology |
ORPHA:68 |
| Thyrotoxic Periodic Paralysis |
|
Hyperthyroidism, Thyrotoxicosis with toxic single thyroid nodule, Thyrotoxicosis with diffuse goi... |
ORPHA:79102 |
| Acquired Central Diabetes Insipidus |
|
Diabetes insipidus, Weight loss |
ORPHA:95626 |
| Oculopharyngodistal Myopathy 1 |
|
Abnormal cerebral white matter morphology, High palate, Weight loss |
OMIM:164310 |
| Pancreatoblastoma |
|
Abnormal lymph node morphology, Jaundice, Pancreatic calcification, Weight loss |
ORPHA:677 |
| Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Joint laxity, Short metacarpal, Lumbar hyperlordosis, Hypoplasia of the maxilla, Hypoplasia of th... |
OMIM:300106 |
| Primary Fanconi Renotubular Syndrome |
|
Osteomalacia, Increased susceptibility to fractures, Weight loss, Pulmonary fibrosis, Hypophospha... |
ORPHA:3337 |
| Tetrasomy 9P |
|
Pericarditis, Dextrocardia, Abnormal spinal cord morphology, Abnormal cardiac septum morphology, ... |
ORPHA:3310 |
| Spondyloarthropathy, Susceptibility To, 1 |
|
Back pain, Kyphosis, Oligoarthritis, Enthesitis, Sacroiliac arthritis, Hip osteoarthritis |
OMIM:106300 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Normocytic anemia, Abnormality of retinal pigmentation, Renal tubular epithelial necrosis, Weight... |
ORPHA:91500 |
| Carney-Stratakis Syndrome |
|
Paraganglioma, Weight loss |
ORPHA:97286 |
| Goodpasture Syndrome |
|
Nodular pattern on pulmonary HRCT, Weight loss, Hemosiderin-laden macrophages in bronchoalveolar ... |
OMIM:233450 |
| Primary Sjögren Syndrome |
|
Abnormal spinal cord morphology |
ORPHA:289390 |
| Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Kyphosis, Scoliosis, Aspiration pneumonia |
OMIM:619482 |
