| Fraxf Syndrome |
|
Folate-dependent fragile site at Xq28 |
ORPHA:100974 |
| Female Infertility Due To Oocyte Meiotic Arrest |
|
Abnormal spermatogenesis, Female infertility, Oocyte arrest at metaphase I, Polycystic ovaries, A... |
ORPHA:488191 |
| 46,Xx Testicular Disorder Of Sex Development |
|
Male hypogonadism, Ambiguous genitalia, Polycystic ovaries, Decreased testicular size |
ORPHA:393 |
| Mosaic Variegated Aneuploidy Syndrome 4 |
|
Abnormality of chromosome stability |
OMIM:620153 |
| Spastic Paraplegia 25, Autosomal Recessive |
|
Spinal cord compression |
OMIM:608220 |
| Familial Hyperprolactinemia |
|
Female hypogonadism, Hemorrhagic ovarian cyst, Infertility, Menorrhagia, Oligomenorrhea, Amenorrhea |
ORPHA:397685 |
| Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Decreased testicular size, Abnormality of the ovary, Hypogonadism |
ORPHA:1875 |
| Warburg Micro Syndrome 1 |
|
Perisylvian polymicrogyria, Wide nasal bridge, Cerebellar hypoplasia, External genital hypoplasia... |
OMIM:600118 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Pycnodysostosis |
|
Delayed cranial suture closure, Convex nasal ridge, Micrognathia, Increased bone mineral density,... |
ORPHA:763 |
| Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Flexion contracture, Plagiocephaly, Wide nasal bridge, Synophrys, Microdontia, Sparse eyelashes, ... |
OMIM:619293 |
| Mcdonough Syndrome |
|
Underdeveloped nasal alae, Dental malocclusion, Mandibular prognathia, Prominent nose, Kyphosis, ... |
ORPHA:2471 |
| Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Diabetes mellitus, Myelopathy, Spinal cord compression |
OMIM:602475 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Flexion contracture, Delayed eruption of teeth, Micrognathia, Elbow flexion contracture, Camptoda... |
OMIM:214150 |
| Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia |
OMIM:610021 |
| Fanconi Anemia, Complementation Group S |
|
Underdeveloped nasal alae, Dental malocclusion, Anemia, Thick upper lip vermilion, Narrow palate,... |
OMIM:617883 |
| 3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
|
Hypoglycemia |
ORPHA:35701 |
| Congenital Disorder Of Glycosylation, Type Iik |
|
Elevated circulating alanine aminotransferase concentration, Midface retrusion, Joint laxity, Ele... |
OMIM:614727 |
| Gonadoblastoma |
|
Ambiguous genitalia, Gonadal dysgenesis with female appearance, male, Gonadal calcification, Abno... |
ORPHA:206484 |
| 46,Xy Complete Gonadal Dysgenesis |
|
Hypogonadotropic hypogonadism, Polycystic ovaries, Male pseudohermaphroditism, Testicular dysgenesis |
ORPHA:242 |
| Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Brachycephaly, Global brain atrophy, Plagiocephaly, Cachexia, Short neck, Smooth philtrum, Promin... |
OMIM:616801 |
| Alpha-Mannosidosis |
|
Dental malocclusion, Mandibular prognathia, Narrow palate, Kyphosis, Widely spaced teeth, Type II... |
ORPHA:61 |
| Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Dental malocclusion, Abnormal periventricular white matter morphology, Contractures of the large ... |
ORPHA:329178 |
| Craniofacial Conodysplasia |
|
Spinal cord compression |
ORPHA:85168 |
| Microcephaly 16, Primary, Autosomal Recessive |
|
Knee flexion contracture, Decreased body weight, Primary microcephaly, Simplified gyral pattern, ... |
OMIM:616681 |
| Renpenning Syndrome |
|
Alopecia, Mandibular prognathia, Prominent nose, Decreased testicular size, Thin eyebrow, Cachexi... |
ORPHA:3242 |
| Transaldolase Deficiency |
|
Synophrys, Hepatosplenomegaly, Short neck, Hepatomegaly, Decreased liver function, Thrombocytopen... |
OMIM:606003 |
| Lig4 Syndrome |
|
Brachycephaly, Hypothyroidism, Convex nasal ridge, Abnormality of chromosome stability, Wide nasa... |
ORPHA:99812 |
| Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Micrognathia, Microdontia, Bone marrow hypocellularity, Amelogenesis impe... |
OMIM:617052 |
| Camptodactyly Syndrome, Guadalajara Type 1 |
|
Camptodactyly of finger, Brachycephaly, Melanocytic nevus, Synophrys, Midface retrusion, Pectus e... |
ORPHA:1327 |
| 3Q13 Microdeletion Syndrome |
|
Long philtrum, Wide nasal bridge, Macrocephaly, Hypoplasia of penis, Short neck, Anteverted nares... |
ORPHA:1621 |
| Seckel Syndrome 1 |
|
Convex nasal ridge, Selective tooth agenesis, Micrognathia, Elbow flexion contracture, Hip disloc... |
OMIM:210600 |
| Forsythe-Wakeling Syndrome |
|
Decreased body weight, Frontal bossing, Microcephaly, Thrombocytopenia, Prominent nasal bridge, O... |
OMIM:613606 |
| Glucocorticoid Deficiency 3 |
|
Recurrent hypoglycemia |
OMIM:609197 |
| Glycogen Storage Disease 0, Liver |
|
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia |
OMIM:240600 |
| Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum |
|
Micrognathia, Frontal cortical atrophy, Depressed nasal bridge, Short neck, Narrow mouth, Microce... |
OMIM:618766 |
| Hyperinsulinism Due To Insr Deficiency |
|
Insulin resistance, Hyperinsulinemic hypoglycemia, Hypoglycemia, Recurrent hypoglycemia, Fasting ... |
ORPHA:263458 |
| Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Premature graying of hair, Urethral stricture, Palmoplantar hyperkeratosis, White forelock, Nail ... |
OMIM:613989 |
| Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Brachycephaly, Plagiocephaly, Long philtrum, Wide nasal bridge, Ulnar deviation of the wrist, Mic... |
OMIM:618577 |
| Hallermann-Streiff Syndrome |
|
Brachycephaly, Selective tooth agenesis, Micrognathia, Tracheomalacia, Pectus excavatum, Everted ... |
OMIM:234100 |
| Hepatic Adenomas, Familial |
|
Polycystic ovaries |
OMIM:142330 |
| Moynahan Syndrome |
|
Alopecia, Hypogonadism, Cachexia, Microcephaly, Hyperkeratosis, Sparse hair |
ORPHA:2574 |
| Fowler Urethral Sphincter Dysfunction Syndrome |
|
Abnormality of the ovary, Polycystic ovaries, Menorrhagia, Oligomenorrhea, Abnormality of the ure... |
ORPHA:2795 |
| 46,Xx Disorder Of Sex Development-Skeletal Anomalies Syndrome |
|
Increased size of the clitoris, Ambiguous genitalia, female, Abnormality of the ovary, Abnormalit... |
ORPHA:2975 |
| Scleroderma, Familial Progressive |
|
Chromosome breakage, Abnormality of chromosome stability |
OMIM:181750 |
| Wt Limb-Blood Syndrome |
|
Retrognathia, Irregular hyperpigmentation, Absent thumb, Short thumb, Micrognathia, Radioulnar sy... |
OMIM:194350 |
| Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hypoglycemia, Hepatomegaly, Cardiomyopathy |
OMIM:609016 |
| Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Hypothyroidism, Convex nasal ridge, Camptodactyly, Midface retrusion, Prominent occiput, Pectus e... |
OMIM:613385 |
| Nijmegen Breakage Syndrome-Like Disorder |
|
Chromosomal breakage induced by ionizing radiation |
OMIM:613078 |
| Progeria-Short Stature-Pigmented Nevi Syndrome |
|
T lymphocytopenia, Multiple joint contractures, Selective tooth agenesis, Micrognathia, Neoplasm ... |
ORPHA:2959 |
| Aromatase Deficiency |
|
Female pseudohermaphroditism, Ovarian cyst, Hypergonadotropic hypogonadism, Primary amenorrhea |
OMIM:613546 |
| Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Convex nasal ridge, Abnormality of upper lip vermillion, Micrognathia, Microdontia, Short neck, C... |
ORPHA:251028 |
| Hall-Riggs Mental Retardation Syndrome |
|
Enamel hypoplasia, Irregular vertebral endplates, Prominent nose, Kyphosis, Thick lower lip vermi... |
OMIM:234250 |
| Craniosynostosis 3 |
|
Left unicoronal synostosis, Dental malocclusion, Sagittal craniosynostosis, Partial agenesis of t... |
OMIM:615314 |
| Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Genu valgum, Wide nasal bridge, Macrocephaly, Abnormal vertebral morphology, Pectus excavatum, Fr... |
ORPHA:166024 |
| Immunodeficiency 54 |
|
Reduced natural killer cell count, Adrenocorticotropic hormone excess, Adrenal insufficiency, Fai... |
OMIM:609981 |
| Macrocephaly, Acquired, With Impaired Intellectual Development |
|
Sparse eyebrow, Long philtrum, Thin corpus callosum, Macrocephaly, Unilateral cryptorchidism, Nar... |
OMIM:618286 |
| Prieto Syndrome |
|
11 pairs of ribs, Retrognathia, Prominent nose, Patellar dislocation, Patellar subluxation, Cereb... |
OMIM:309610 |
| Aredyld Syndrome |
|
Sparse body hair, Aplasia/Hypoplasia of the eyebrow, Mandibular prognathia, Abnormal nasal morpho... |
ORPHA:1133 |
| X-Linked Intellectual Disability, Cabezas Type |
|
Camptodactyly of finger, Synophrys, Cachexia, Biparietal narrowing, Short neck, Abnormal hair pat... |
ORPHA:85293 |
| Premature Ovarian Failure 5 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the ovary, Reduced antral fo... |
OMIM:611548 |
| Rubinstein-Taybi Syndrome 2 |
|
Short 5th toe, Talon cusp, Dental malocclusion, Retrognathia, Convex nasal ridge, Short first met... |
OMIM:613684 |
| Xp22.3 Microdeletion Syndrome |
|
Decreased fertility, Hypogonadotropic hypogonadism, Polycystic ovaries, Secondary amenorrhea |
ORPHA:1643 |
| Potocki-Lupski Syndrome |
|
Dental malocclusion, Hypothyroidism, Mandibular prognathia, High palate, Wide mouth, Small for ge... |
OMIM:610883 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Retrognathia, Enamel hypoplasia, Patent ductus arteriosus, Cirrhosis, Abnormal cortical gyration,... |
OMIM:614576 |
| Polycystic Ovary Syndrome 1 |
|
Enlarged polycystic ovaries, Amenorrhea, Oligomenorrhea |
OMIM:184700 |
| X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome |
|
Retrognathia, Abnormal number of incisors, Prominent nose, Patellar subluxation, Cerebral atrophy... |
ORPHA:2958 |
| Aicardi-Goutieres Syndrome 4 |
|
Convex nasal ridge, Elevated hepatic transaminase, Cerebral calcification, Pancytopenia, Hepatosp... |
OMIM:610333 |
| Schimke Immunoosseous Dysplasia |
|
Wide nasal bridge, Microdontia, Short neck, Ovoid vertebral bodies, Coarse hair, Thrombocytopenia... |
OMIM:242900 |
| Maternal Uniparental Disomy Of Chromosome 1 |
|
Delayed closure of the anterior fontanelle, Epiphyseal stippling, Type I diabetes mellitus, Pancy... |
ORPHA:251009 |
| Hajdu-Cheney Syndrome |
|
Abnormal mandible morphology, Patellar dislocation, Wide nasal bridge, Synophrys, Micrognathia, P... |
ORPHA:955 |
| Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Plagiocephaly, Wide nasal bridge, Micrognathia, Elbow flexion contracture, Cachexia, Short neck, ... |
ORPHA:371364 |
| Testicular Regression Syndrome |
|
Decreased fertility, Ambiguous genitalia, Decreased testicular size, Abnormal male internal genit... |
ORPHA:983 |
| Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome |
|
Polycystic ovaries, Precocious puberty, Hypergonadotropic hypogonadism |
ORPHA:2229 |
| Lowry-Maclean Syndrome |
|
Convex nasal ridge, Abnormality of the abdominal organs, Micrognathia, Cleft palate, Widely paten... |
ORPHA:2409 |
| Cardiofaciocutaneous Syndrome 1 |
|
Hypoplasia of the frontal lobes, Cerebral cortical atrophy, Micrognathia, Pectus excavatum, Short... |
OMIM:115150 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Anemia, Osteomyelitis, Calvarial osteosclerosis, Increased bone mineral density, Macrocephaly, Pa... |
OMIM:259700 |
| Takenouchi-Kosaki Syndrome |
|
Cerebral cortical atrophy, Wide nasal bridge, Synophrys, Camptodactyly, Midface retrusion, Smooth... |
OMIM:616737 |
| Mulibrey Nanism |
|
Wide nose, Enamel hypoplasia, Dental malocclusion, Hypoplastic frontal sinuses, Wide nasal bridge... |
OMIM:253250 |
| Christianson Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Mandibular prognathia, Cerebral cortical atrophy, Aplasia/H... |
ORPHA:85278 |
| Cranioectodermal Dysplasia |
|
Rhizomelia, Craniosynostosis, Microdontia, Hypodontia, Taurodontia, Dolichocephaly, Prominent occ... |
ORPHA:1515 |
| Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Wide nose, Primary microcephaly, Joint laxity, Hyperinsulinemic hypoglycemia, Diabetes mellitus, ... |
OMIM:616033 |
| Mccune-Albright Syndrome |
|
Precocious puberty, Abnormal testis morphology, Hyperplasia of the Leydig cells, Bone marrow hypo... |
ORPHA:562 |
| 46,Xx Ovotesticular Disorder Of Sex Development |
|
Decreased fertility, Urogenital sinus anomaly, Ambiguous genitalia, Bifid scrotum, Abnormal male ... |
ORPHA:2138 |
| 19Q13.11 Microdeletion Syndrome |
|
Retrognathia, Underdeveloped nasal alae, Sparse lateral eyebrow, Wide mouth, Bifid scrotum, Cache... |
ORPHA:217346 |
| Hajdu-Cheney Syndrome |
|
Osteolytic defects of the phalanges of the hand, Foot acroosteolysis, Synophrys, Micrognathia, Di... |
OMIM:102500 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Brachycephaly, Melanocytic nevus, Delayed eruption of teeth, Epiphyseal stippling, Midface retrus... |
OMIM:101800 |
| Rubinstein-Taybi Syndrome 1 |
|
Delayed cranial suture closure, Premature thelarche, Convex nasal ridge, Flexion contracture, Wid... |
OMIM:180849 |
| Deafness-Intellectual Disability Syndrome, Martin-Probst Type |
|
Dental malocclusion, Hypothyroidism, Wide nasal bridge, Bifid scrotum, Thick lower lip vermilion,... |
ORPHA:85321 |
| Flynn-Aird Syndrome |
|
Alopecia, Increased bone density with cystic changes, Increased bone mineral density, Alopecia of... |
OMIM:136300 |
| Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Alopecia, Leukopenia, Premature graying of hair, Cerebellar hypoplasia, Urethral stricture, Cereb... |
OMIM:613990 |
| Flynn-Aird Syndrome |
|
Alopecia, Cerebral cortical atrophy, Kyphosis, Type II diabetes mellitus, Cachexia, Cerebral calc... |
ORPHA:2047 |
| Van Maldergem Syndrome 2 |
|
Irregular dentition, Hip subluxation, Short 4th metacarpal, Wide nasal bridge, Micrognathia, Midf... |
OMIM:615546 |
| Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Hepatic fibrosis, Small nail, Sparse scalp hair, Microdontia, Pterygium, Palmoplantar hyperkerato... |
OMIM:224230 |
| Rothmund-Thomson Syndrome, Type 1 |
|
Conical tooth, Hypothyroidism, Cafe-au-lait spot, Absent eyelashes, Premature ovarian insufficien... |
OMIM:618625 |
| Zimmermann-Laband Syndrome |
|
Micrognathia, Bifid uvula, Generalized hyperpigmentation, Hypoplastic fingernail, Short neck, Hep... |
ORPHA:3473 |
| Intellectual Disability And Myopathy Syndrome |
|
Incisor macrodontia, Dental malocclusion, Cafe-au-lait spot, Spotty hypopigmentation, Achilles te... |
OMIM:619719 |
| Ovarian Fibrothecoma |
|
Gonadal calcification, Abnormality of the ovary, Metrorrhagia, Abnormal endometrium morphology, O... |
ORPHA:314478 |
| Robinow Syndrome, Autosomal Dominant 2 |
|
Cleft soft palate, Micrognathia, Camptodactyly, Midface retrusion, Cleft palate, Gingival overgro... |
OMIM:616331 |
| Greig Cephalopolysyndactyly Syndrome |
|
Delayed cranial suture closure, Scaphocephaly, Wide nasal bridge, Joint contracture of the hand, ... |
OMIM:175700 |
| Baraitser-Winter Syndrome 1 |
|
Wide nasal bridge, Midface retrusion, Lissencephaly, Short neck, Orofacial cleft, Short nose, Mic... |
OMIM:243310 |
| Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Camptodactyly of finger, Cerebral cortical atrophy, Abnormality of the cervical spine, Kyphosis, ... |
ORPHA:48431 |
| Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatic failure, Elevated circulating thyroid-stimulating hormone concentration, Primary adrenal ... |
OMIM:617872 |
| Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome |
|
Frontal bossing, Joint hyperflexibility, Microcephaly, Short distal phalanx of finger, Osteoporos... |
ORPHA:2787 |
| Hamamy Syndrome |
|
Neck pterygia, Brachycephaly, Wide nasal bridge, Micrognathia, Pectus excavatum, Everted lower li... |
OMIM:611174 |
| Microcephaly 17, Primary, Autosomal Recessive |
|
Hypoplasia of the brainstem, Primary microcephaly, Cerebellar hypoplasia, Simplified gyral patter... |
OMIM:617090 |
| Acrootoocular Syndrome |
|
Short toe, Dental malocclusion, Decreased response to growth hormone stimulation test, Short meta... |
ORPHA:2980 |
| Maternal Uniparental Disomy Of Chromosome X |
|
Gonadal tissue inappropriate for external genitalia or chromosomal sex, Primary gonadal insuffici... |
ORPHA:261519 |
| Fanconi Anemia, Complementation Group J |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:609054 |
| Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Abnormality of skin pigmentation, Convex nasal ridge, Flexion contracture, Premature graying of h... |
ORPHA:1979 |
| Ovarian Dysgenesis 2 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary am... |
OMIM:300510 |
| Schwartz-Jampel Syndrome |
|
Wrist flexion contracture, Decreased body weight, Micrognathia, Increased bone mineral density, C... |
ORPHA:800 |
| Silver-Russell Syndrome |
|
Delayed cranial suture closure, Precocious puberty, Cafe-au-lait spot, Decreased testicular size,... |
ORPHA:813 |
| Winchester Syndrome |
|
Kyphosis, Arthropathy, Generalized osteoporosis, Hirsutism, Carpal osteolysis, Gingival overgrowt... |
OMIM:277950 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Ambiguous genitalia, Rhizomelia, Wide nasal bridge, Micrognathia, Short philtrum, Frontal bossing... |
ORPHA:93267 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Anemia, Mandibular prognathia, Osteomyelitis, Recurrent fractures, Genu valgum, Osteopetrosis, Pa... |
OMIM:259710 |
| Hypogonadotropic Hypogonadism 19 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Osteopenia, Osteoporosis, Abnormality of the dentition |
OMIM:615269 |
| Bloom Syndrome |
|
Bronchiectasis, Hepatic steatosis, Chromosome breakage, Prominent nose, Agenesis of maxillary lat... |
OMIM:210900 |
| Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone |
|
Hypoglycemia |
OMIM:223500 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1 |
|
Anemia, Myeloid leukemia, Cirrhosis, Premature graying of hair, Pancytopenia, Usual interstitial ... |
OMIM:614742 |
| Nestor-Guillermo Progeria Syndrome |
|
Delayed closure of the anterior fontanelle, Convex nasal ridge, Flexion contracture, Micrognathia... |
OMIM:614008 |
| Trichorhinophalangeal Syndrome, Type I |
|
Ivory epiphyses of the distal phalanges of the hand, Leukonychia, Delayed eruption of teeth, Micr... |
OMIM:190350 |
| Hemifacial Atrophy, Progressive |
|
Dental malocclusion, Kyphosis, Delayed eruption of teeth, Poliosis, Tongue atrophy, Patchy alopec... |
OMIM:141300 |
| Corpus Callosum, Agenesis Of |
|
Joint contracture of the hand, Macrocephaly, Camptodactyly, Frontal bossing, Microcephaly, Agenes... |
OMIM:217990 |
| Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Dental malocclusion, Prominent nose, Synophrys, Kyphoscoliosis, Microcephaly |
OMIM:615541 |
| Van Maldergem Syndrome 1 |
|
Irregular dentition, Short 4th metacarpal, Wide nasal bridge, Micrognathia, Camptodactyly, Midfac... |
OMIM:601390 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 7 |
|
Hypoplasia of the brainstem, Cerebellar hypoplasia, Cerebellar vermis hypoplasia, Lissencephaly, ... |
OMIM:610031 |
| Degcags Syndrome |
|
Ambiguous genitalia, Plagiocephaly, Premature graying of hair, Synophrys, Micrognathia, Tracheoma... |
OMIM:619488 |
| Perrault Syndrome 6 |
|
Irregular menstruation, Secondary amenorrhea, Premature ovarian insufficiency, Primary amenorrhea... |
OMIM:617565 |
| Tetrasomy 12P |
|
Thick upper lip vermilion, Sparse eyebrow, Long philtrum, Delayed eruption of teeth, Cachexia, Sh... |
ORPHA:884 |
| Cronkhite-Canada Syndrome |
|
Sparse body hair, Alopecia, Dystrophic toenail, Aplasia/Hypoplasia of the eyebrow, Hypoplastic to... |
ORPHA:2930 |
| Fragile X Syndrome |
|
Congenital macroorchidism, Mandibular prognathia, Macrocephaly, Joint laxity, Pectus excavatum, M... |
OMIM:300624 |
| Intermediate Osteopetrosis |
|
Dental malocclusion, Back pain, Anemia, Increased susceptibility to fractures, Osteomyelitis, Rec... |
ORPHA:210110 |
| Cleidocranial Dysplasia |
|
Brachycephaly, Delayed eruption of teeth, Micrognathia, Midface retrusion, Spina bifida occulta, ... |
ORPHA:1452 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Camptodactyly of finger, Dental malocclusion, Irregular vertebral endplates, High palate, Short f... |
OMIM:612350 |
| Ruijs-Aalfs Syndrome |
|
Decreased body weight, Premature graying of hair, Hypogonadism, Prominent nasal bridge, Micrognat... |
OMIM:616200 |
| Neu-Laxova Syndrome |
|
Ambiguous genitalia, Flexion contracture, Micrognathia, Bifid uvula, Pulmonary hypoplasia, Promin... |
ORPHA:2671 |
| 6Q25 Microdeletion Syndrome |
|
Camptodactyly of finger, High palate, Long philtrum, Wide nasal bridge, Plagiocephaly, External g... |
ORPHA:251056 |
| Chromosome 13Q33-Q34 Deletion Syndrome |
|
Irregular dentition, Brachycephaly, Wide nasal bridge, Delayed eruption of teeth, Micrognathia, C... |
OMIM:619148 |
| Auriculocondylar Syndrome 2 |
|
Dental malocclusion, Mandibular condyle hypoplasia, Temporomandibular joint ankylosis, Micrognath... |
OMIM:614669 |
| Bangstad Syndrome |
|
Primary gonadal insufficiency, Retrognathia, Convex nasal ridge, Small for gestational age, Cereb... |
OMIM:210740 |
| Marshall-Smith Syndrome |
|
Irregular dentition, Decreased body weight, Melanocytic nevus, Recurrent aspiration pneumonia, Sy... |
OMIM:602535 |
| Robinow Syndrome |
|
Marked delay in eruption of permanent teeth, Bifid tongue, Micrognathia, Hypoplastic labia majora... |
ORPHA:97360 |
| Macs Syndrome |
|
Irregular dentition, Decreased body weight, Wide nasal bridge, Bronchiectasis, Micrognathia, Pect... |
OMIM:613075 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Acute myeloid leukemia, Bone marrow hypocellularity, Hepatomegaly, Hypochromic anemia, Thrombocyt... |
ORPHA:75564 |
| Ataxia-Pancytopenia Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Acute myelomonocytic leukemia, Abnormal macrophage morpholo... |
ORPHA:2585 |
| Noonan Syndrome 4 |
|
High anterior hairline, Sparse eyebrow, Curly hair, Dental malocclusion, Pectus excavatum of infe... |
OMIM:610733 |
| Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Underdeveloped nasal alae, Alopecia, Conical tooth, Brachycephaly, Encephalocele, Agenesis of cer... |
ORPHA:228390 |
| Cerebellar-Facial-Dental Syndrome |
|
Foot joint contracture, Wide nasal bridge, Micrognathia, Taurodontia, Midface retrusion, Short ne... |
ORPHA:444072 |
| Radio-Tartaglia Syndrome |
|
Precocious puberty, Wide nasal bridge, Synophrys, Micrognathia, Prominent nasal tip, Hirsutism, T... |
OMIM:619312 |
| Imagawa-Matsumoto Syndrome |
|
Mandibular prognathia, Melanocytic nevus, Agenesis of corpus callosum, Macrocephaly, Camptodactyl... |
OMIM:618786 |
| Florid Cemento-Osseous Dysplasia |
|
Dental malocclusion, Oral ulcer, Abnormal mandible morphology, Abnormal number of teeth, Jaw swel... |
ORPHA:83451 |
| Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Micrognathia, Camptodactyly, Pectus excavatum, Dislocated radial head, Genu recurvatum, Genu valg... |
OMIM:182212 |
| Intellectual Disability-Strabismus Syndrome |
|
Hypothyroidism, Plagiocephaly, Synophrys, Micrognathia, Short neck, Prominent nose, Limitation of... |
ORPHA:363528 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Global brain atrophy, Butterfly vertebrae, Elevated hepatic transaminase, Midface retrusion, Opti... |
OMIM:301056 |
| Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:601820 |
| Oculodentodigital Dysplasia, Autosomal Recessive |
|
Brachycephaly, Delayed eruption of teeth, Micrognathia, Large fontanelles, Sparse eyelashes, Abno... |
OMIM:257850 |
| Stargardt Macular Degeneration, Absent Or Hypoplastic Corpus Callosum, Mental Retardation, And Dysmorphic Facial Features |
|
High palate, Broad eyebrow, Thin upper lip vermilion, Broad nasal tip, Smooth philtrum, Hypoplasi... |
OMIM:612948 |
| Harrod Syndrome |
|
Dental malocclusion, Cerebral cortical atrophy, High palate, Kyphosis, Long nose, Hypopigmented s... |
ORPHA:2115 |
| Muenke Syndrome |
|
Brachycephaly, Dental malocclusion, Short middle phalanx of toe, High palate, Plagiocephaly, Capi... |
OMIM:602849 |
| Fructose And Galactose Intolerance |
|
Hypoglycemia |
OMIM:229500 |
| Intellectual Disability, Buenos-Aires Type |
|
Dental malocclusion, Mandibular prognathia, High palate, Wide nasal bridge, Abnormality of dental... |
ORPHA:3079 |
| Microcephaly 5, Primary, Autosomal Recessive |
|
Small cerebral cortex, Cerebellar hypoplasia, Simplified gyral pattern, Flat occiput, Microcephal... |
OMIM:608716 |
| Methylcobalamin Deficiency Type Cble |
|
Hypoplasia of the brainstem, Abnormality of the liver, Pancytopenia, Megaloblastic bone marrow, F... |
ORPHA:2169 |
| Cornelia De Lange Syndrome 5 |
|
Brachycephaly, Synophrys, Micrognathia, Short neck, Hirsutism, Limited elbow extension, Cleft pal... |
OMIM:300882 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 1 |
|
Hypoplasia of the brainstem, Simplified gyral pattern, Thin corpus callosum, Fusion of the caudat... |
OMIM:614039 |
| Osteogenesis Imperfecta, Type Xii |
|
Dentinogenesis imperfecta, High palate, Recurrent fractures, Hyperextensibility of the finger joi... |
OMIM:613849 |
| Schwartz-Jampel Syndrome, Type 1 |
|
Wrist flexion contracture, Micrognathia, Short neck, Flexion contracture of toe, Lumbar hyperlord... |
OMIM:255800 |
| Fanconi Anemia, Complementation Group D2 |
|
Aplasia of the 1st metacarpal, Absent thumb, Prolonged G2 phase of cell cycle, Bone marrow hypoce... |
OMIM:227646 |
| Non-Distal Trisomy 10Q |
|
Brachycephaly, Convex nasal ridge, High palate, Micrognathia, Pectus excavatum, Short nose, Evert... |
ORPHA:1695 |
| Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Cafe-au-lait spot, Hypogonadism, Delayed eruption of teeth, Small for gestational age, Micrognath... |
ORPHA:73272 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Brachycephaly, Precocious puberty, Wide nasal bridge, Micrognathia, Short neck, Hirsutism, Short ... |
OMIM:620073 |
| Beaulieu-Boycott-Innes Syndrome |
|
Patent ductus arteriosus, High anterior hairline, Dental malocclusion, Premature ovarian insuffic... |
OMIM:613680 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 16 |
|
Short 5th toe, Short 5th finger, Short 3rd toe, Decreased body weight, Short 4th toe, Frontal bos... |
OMIM:619060 |
| Isolated Glycerol Kinase Deficiency |
|
Hyperlordosis, Adrenocortical hypoplasia, Scoliosis, Cryptorchidism, Osteoporosis |
ORPHA:408 |
| Apert Syndrome |
|
Delayed cranial suture closure, Brachycephaly, Humeroradial synostosis, Delayed eruption of teeth... |
OMIM:101200 |
| Leishmaniasis |
|
Leukopenia, Anemia, Rhinitis, Abnormal oral cavity morphology, Weight loss, Abnormal macrophage m... |
ORPHA:507 |
| 7Q11.23 Microduplication Syndrome |
|
Brachycephaly, Short lingual frenulum, Micrognathia, Tracheomalacia, Pectus excavatum, Short neck... |
ORPHA:96121 |
| Lissencephaly, X-Linked, 2 |
|
Ambiguous genitalia, High palate, Wide anterior fontanel, Wide nasal bridge, Long philtrum, Decre... |
OMIM:300215 |
| Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity |
|
Abnormality of chromosome stability, Pancytopenia, Microcephaly |
OMIM:600546 |
| Pierpont Syndrome |
|
Brachycephaly, Decreased body weight, Midface retrusion, Everted lower lip vermilion, Short neck,... |
OMIM:602342 |
| Cantu Syndrome |
|
Patent ductus arteriosus, Thick upper lip vermilion, Long philtrum, Wide nasal bridge, Thick lowe... |
OMIM:239850 |
| Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Retrognathia, High anterior hairline, Dental malocclusion, Patent ductus arteriosus, Thick upper ... |
ORPHA:363444 |
| Premature Aging Syndrome, Penttinen Type |
|
Delayed cranial suture closure, Convex nasal ridge, Aplasia of the nasal bone, Delayed eruption o... |
OMIM:601812 |
| Microcephalic Primordial Dwarfism, Montreal Type |
|
Convex nasal ridge, Premature graying of hair, Kyphosis, Vertebral segmentation defect, Micrognat... |
ORPHA:2617 |
| Fanconi Anemia, Complementation Group C |
|
Anemia, Absent thumb, Cafe-au-lait spot, Flexion contracture, Reticulocytopenia, Leukemia, Small ... |
OMIM:227645 |
| Agammaglobulinemia 8B, Autosomal Recessive |
|
Anemia, Everted upper lip vermilion, B lymphocytopenia, Decreased proportion of CD8-positive, alp... |
OMIM:619824 |
| Robinow Syndrome, Autosomal Dominant 3 |
|
Bifid tongue, Wide nasal bridge, Micrognathia, Camptodactyly, Midface retrusion, Short neck, Clef... |
OMIM:616894 |
| Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies |
|
Hypoplasia of the brainstem, Prominent nose, Simplified gyral pattern, Absent septum pellucidum, ... |
OMIM:618492 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Brachycephaly, Pectus excavatum, Lambdoidal craniosynostosis, Ankle clonus, Hypoplasia of the uln... |
OMIM:615398 |
| Hao-Fountain Syndrome |
|
Delayed cranial suture closure, Large fontanelles, Trigonocephaly, Cryptorchidism, Micropenis, Pr... |
OMIM:616863 |
| Tetragametic Chimerism |
|
Abnormality of the scrotum, Ambiguous genitalia, Abnormal testis morphology, Bifid scrotum, Perin... |
ORPHA:199310 |
| Chromosome 16Q22 Deletion Syndrome |
|
High palate, Wide anterior fontanel, Wide nasal bridge, Small for gestational age, Micrognathia, ... |
OMIM:614541 |
| Neuropathy, Congenital Hypomyelinating, 3 |
|
Flexion contracture, High palate, Micrognathia, Cachexia, Dolichocephaly, Limb joint contracture,... |
OMIM:618186 |
| Maxillonasal Dysplasia, Binder Type |
|
Vertebral clefting, Dental malocclusion, Patchy distortion of vertebrae, Short nose, Short colume... |
OMIM:155050 |
| Fanconi Anemia, Complementation Group I |
|
Hypothyroidism, Absent thumb, Cafe-au-lait spot, Decreased body weight, Short 1st metacarpal, Dec... |
OMIM:609053 |
| Desmosterolosis |
|
Ambiguous genitalia, Micrognathia, Increased bone mineral density, Bifid uvula, Lissencephaly, Cl... |
ORPHA:35107 |
| Radial-Renal Syndrome |
|
Chromosome breakage |
OMIM:179280 |
| Cerebrooculofacioskeletal Syndrome 3 |
|
Cerebellar hypoplasia, Micrognathia, Microcephaly, Cleft palate, Arthrogryposis multiplex congeni... |
OMIM:616570 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Anemia, Reduced natural killer cell count, Hepatic failure, Prostate canc... |
ORPHA:158057 |
| Urban-Rogers-Meyer Syndrome |
|
Camptodactyly of finger, Abnormality of the philtrum, Short foot, Kyphosis, Hypogonadism, Recurre... |
ORPHA:3409 |
| Cri-Du-Chat Syndrome |
|
High palate, Premature graying of hair, Short metacarpal, Small for gestational age, Wide nasal b... |
OMIM:123450 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Premature graying of hair, Bone marrow hypocellularity, Thrombocytopenia, Aplastic anemia, Sparse... |
OMIM:127550 |
| Fragile X Syndrome |
|
Macroorchidism, Mandibular prognathia, Cerebral cortical atrophy, Macrocephaly, Joint laxity, Fro... |
ORPHA:908 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Prominent nose, Lumbar scoliosis, Cerebellar hypoplasia, Simplified gyral pattern, Micrognathia, ... |
OMIM:616171 |
| Gaucher Disease Type 1 |
|
Leukopenia, Anemia, Cirrhosis, Abnormal pulmonary interstitial morphology, Kyphosis, Hypersplenis... |
ORPHA:77259 |
| Desbuquois Dysplasia 1 |
|
Advanced ossification of carpal bones, Midface retrusion, Short neck, Smooth philtrum, Advanced t... |
OMIM:251450 |
| Ventriculomegaly And Arthrogryposis |
|
Cerebellar hypoplasia, Ulnar deviation of the wrist, Micrognathia, Arthrogryposis multiplex conge... |
OMIM:619501 |
| Chondroectodermal Dysplasia With Night Blindness |
|
Abnormality of the knee, Hyperconvex toenail, Micrognathia, Onychauxis, Abnormality of dental mor... |
ORPHA:319195 |
| Lig4 Syndrome |
|
Hypothyroidism, Prominent nose, Pancytopenia, Failure to thrive, Microcephaly, Cryptorchidism, Th... |
OMIM:606593 |
| Turnpenny-Fry Syndrome |
|
Brachycephaly, Decreased body weight, Melanocytic nevus, Plagiocephaly, Microdontia, Prominent na... |
OMIM:618371 |
| Osteopathia Striata With Cranial Sclerosis |
|
Paranasal sinus hypoplasia, Delayed closure of the anterior fontanelle, Wide nasal bridge, Microg... |
OMIM:300373 |
| Autoinflammatory-Pancytopenia Syndrome |
|
Hepatic fibrosis, Arthropathy, Type I diabetes mellitus, Pancytopenia, Hepatosplenomegaly, Failur... |
OMIM:619858 |
| Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Retrognathia, Patent ductus arteriosus, Ambiguous genitalia, Brachycephaly, High palate, Microgna... |
OMIM:618142 |
| Dyskeratosis Congenita |
|
Abnormal testis morphology, Premature graying of hair, Neoplasm of the pancreas, Taurodontia, Abn... |
ORPHA:1775 |
| Sim1-Related Prader-Willi-Like Syndrome |
|
Central hypothyroidism, Precocious puberty, Small pituitary gland, Primary amenorrhea, Abdominal ... |
ORPHA:398079 |
| Potocki-Shaffer syndrome |
|
Abnormality of the male genitalia, Delayed cranial suture closure, Parietal foramina |
DECIPHER:34 |
| Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Retrognathia, Kyphosis, Wide nasal bridge, Small for gestational age, Micrognathia, Prominent nas... |
ORPHA:352490 |
| Fetal Gaucher Disease |
|
Flexion contracture, High palate, Pancytopenia, Arthrogryposis multiplex congenita, Depressed nas... |
ORPHA:85212 |
| Mulibrey Nanism |
|
Macrocephaly, Cachexia, Wide nasal bridge, Hepatomegaly |
ORPHA:2576 |
| Rothmund-Thomson Syndrome Type 2 |
|
Delayed eruption of teeth, Abnormal trabecular bone morphology, Microdontia, Alopecia totalis, Na... |
ORPHA:221016 |
| Cockayne Syndrome B |
|
Ivory epiphyses of the phalanges of the hand, Hepatomegaly, Abnormal hair morphology, Sparse hair... |
OMIM:133540 |
| Spondyloenchondrodysplasia |
|
Dental malocclusion, Hypothyroidism, Abnormal periventricular white matter morphology, Decreased ... |
ORPHA:1855 |
| Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatitis, Pancytopenia, Hemophagocytosis, Hepatomegaly, Aplastic anemia, Recurrent respiratory i... |
OMIM:300635 |
| Fanconi Anemia, Complementation Group E |
|
Anemia, Absent thumb, Cafe-au-lait spot, Reticulocytopenia, Leukemia, Small for gestational age, ... |
OMIM:600901 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Hip subluxation, Micrognathia, Increased bone mineral density, Hepatosplenomegaly, Hepatomegaly, ... |
OMIM:259720 |
| Craniosynostosis 6 |
|
Delayed cranial suture closure, Brachycephaly, Parietal foramina, Plagiocephaly, Turricephaly, La... |
OMIM:616602 |
| Zimmermann-Laband Syndrome 3 |
|
Flexion contracture, Wide nasal bridge, Synophrys, Bifid uvula, Thick eyebrow, Gingival overgrowt... |
OMIM:618658 |
| Lissencephaly Syndrome, Norman-Roberts Type |
|
Wide nose, Wide nasal bridge, Primary microcephaly, 4-layered lissencephaly, Dolichocephaly, Prom... |
ORPHA:89844 |
| Lessel-Kreienkamp Syndrome |
|
Patent ductus arteriosus, Dental malocclusion, Scaphocephaly, Plagiocephaly, Wide nasal bridge, F... |
OMIM:619149 |
| Fanconi Anemia, Complementation Group A |
|
Anemia, Abnormality of skin pigmentation, Cafe-au-lait spot, Absent thumb, Reticulocytopenia, Leu... |
OMIM:227650 |
| Aggressive Systemic Mastocytosis |
|
Anemia, Decreased liver function, Weight loss, Hypersplenism, Pancytopenia, Hepatosplenomegaly, P... |
ORPHA:98850 |
| Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Impotence, Camptodactyly, Primary amenorrhea, Cleft palate, Hypoplasia of the uterus, Sparse body... |
ORPHA:432 |
| Lethal Osteosclerotic Bone Dysplasia |
|
Retrognathia, Delayed cranial suture closure, Mandibular aplasia, Depressed nasal ridge, Microgna... |
ORPHA:1832 |
| Ovarian Fibroma |
|
Abnormality of the ovary, Ovarian fibroma, Gonadal calcification |
ORPHA:314473 |
| Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Impotence, Small pituitary gland, Increased circulating gonadotropin level, Primary amenorrhea, L... |
ORPHA:2232 |
| Marden-Walker Syndrome |
|
Micrognathia, Camptodactyly, Pulmonary hypoplasia, Short neck, Cleft palate, Hypoplasia of the br... |
OMIM:248700 |
| Perrault Syndrome 2 |
|
Streak ovary, Amenorrhea |
OMIM:614926 |
| Alpha-Mannosidosis, Infantile Form |
|
Brachycephaly, Cerebral cortical atrophy, Cortical thickening of long bone diaphyses, Hepatosplen... |
ORPHA:309282 |
| Emanuel Syndrome |
|
Multiple joint contractures, Delayed eruption of teeth, Micrognathia, Bifid uvula, Cleft palate, ... |
ORPHA:96170 |
| Pierpont Syndrome |
|
Brachycephaly, High anterior hairline, Short toe, Abnormal cortical gyration, Primary microcephal... |
ORPHA:487825 |
| Intellectual Developmental Disorder, Autosomal Dominant 26 |
|
Brachycephaly, Kyphosis, Wide nasal bridge, Small for gestational age, Micrognathia, Prominent na... |
OMIM:615834 |
| Mu-Heavy Chain Disease |
|
Anemia, Weight loss, Abnormal B cell count, Osteoporosis, Lymphadenopathy, Osteolysis, Hepatomega... |
ORPHA:100024 |
| Neonatal Lupus Erythematosus |
|
Anemia, Hepatic failure, Abnormality of the liver, Neutropenia, Hemolytic anemia, Macrocephaly, E... |
ORPHA:398124 |
| Immunodeficiency 69 |
|
Anemia, Pancytopenia, Hepatosplenomegaly, Failure to thrive, Thrombocytosis, Leukocytosis, Spleno... |
OMIM:618963 |
| Rothmund-Thomson Syndrome |
|
Delayed eruption of teeth, Abnormal trabecular bone morphology, Selective tooth agenesis, Microdo... |
ORPHA:2909 |
| Amegakaryocytic Thrombocytopenia, Congenital |
|
Amegakaryocytic thrombocytopenia, Pancytopenia, Megakaryocytopenia, Thrombocytopenia, Cerebellar ... |
OMIM:604498 |
| Bohring-Opitz Syndrome |
|
Flexion contracture, Wide nasal bridge, Micrognathia, Camptodactyly, Supernumerary nipple, Disloc... |
OMIM:605039 |
| Au-Kline Syndrome |
|
Bifid tongue, Plagiocephaly, Bifid uvula, Supernumerary nipple, Pectus excavatum, Cleft palate, L... |
OMIM:616580 |
| Trichothiodystrophy 9, Nonphotosensitive |
|
Sparse eyebrow, Dental malocclusion, Tiger tail banding, High, narrow palate, Joint laxity, Spars... |
OMIM:619692 |
| Larsen-Like Syndrome |
|
Brachycephaly, Dental malocclusion, Joint dislocation, Wide anterior fontanel, Absent nasal bridg... |
OMIM:608545 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, 35 |
|
Central hypothyroidism, Wide nasal bridge, Contracture of the proximal interphalangeal joint of t... |
OMIM:300998 |
| Frank-Ter Haar Syndrome |
|
Delayed cranial suture closure, Brachycephaly, Micrognathia, Camptodactyly, Pectus excavatum, Sho... |
OMIM:249420 |
| Satoyoshi Syndrome |
|
Abnormality of the ovary, Abnormality of the uterus, Hypoplasia of the ovary, Amenorrhea, Hypopla... |
ORPHA:3130 |
| Ataxia-Telangiectasia |
|
Abnormality of chromosome stability, Premature graying of hair, Abnormal testis morphology, Aplas... |
ORPHA:100 |
| Lissencephaly 4 |
|
Wide nasal bridge, Cerebellar hypoplasia, Simplified gyral pattern, Primary microcephaly, Lissenc... |
OMIM:614019 |
| Microcephaly 10, Primary, Autosomal Recessive |
|
Cerebellar hemisphere hypoplasia, Reduced cerebral white matter volume, Primary microcephaly, Sma... |
OMIM:615095 |
| Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Leukoencephalopathy, Anemia, Cirrhosis, Weight loss, Cachexia, Elevated hepatic transaminase, Abn... |
ORPHA:298 |
| Momo Syndrome |
|
Short sternum, Dental malocclusion, Thick upper lip vermilion, Brachycephaly, Abnormal bone ossif... |
ORPHA:2563 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
11 pairs of ribs, Toenail dysplasia, Short toe, Short 5th metacarpal, High palate, Pierre-Robin s... |
OMIM:617877 |
| Hemochromatosis, Type 1 |
|
Alopecia, Cirrhosis, Impotence, Arthropathy, Azoospermia, Hepatocellular carcinoma, Elevated hepa... |
OMIM:235200 |
| Cockayne Syndrome A |
|
Ivory epiphyses of the phalanges of the hand, Hepatomegaly, Sparse hair, Splenomegaly, Prominent ... |
OMIM:216400 |
| Three M Syndrome 2 |
|
Hyperlordosis, Dental malocclusion, Short 5th finger, High palate, Long philtrum, Delayed eruptio... |
OMIM:612921 |
| Primary Myelofibrosis |
|
Anemia, Abnormal megakaryocyte morphology, Cachexia, Pancytopenia, Hepatosplenomegaly, Poikilocyt... |
ORPHA:824 |
| Craniofrontonasal Dysplasia |
|
Camptodactyly of finger, Brachycephaly, Plagiocephaly, Wide nasal bridge, Pectus excavatum, Abnor... |
ORPHA:1520 |
| Pseudohypoparathyroidism, Type Ia |
|
Short toe, Enamel hypoplasia, Hypothyroidism, Hypogonadism, Delayed eruption of teeth, Short meta... |
OMIM:103580 |
| 19P13.3 Microduplication Syndrome |
|
Underdeveloped nasal alae, Hip subluxation, Precocious puberty, Prominent nose, Micrognathia, Sho... |
ORPHA:447980 |
| Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Flexion contracture, Wide nasal bridge, Synophrys, Camptodactyly, Midface retrusion, Smooth philt... |
ORPHA:487796 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Splenomegaly, Hemolytic anemia, Recurrent respiratory infections, Lymphocytosis, Pancytopenia, Au... |
OMIM:614470 |
| Prader-Willi-Like Syndrome |
|
Central hypothyroidism, Precocious puberty, Perisylvian polymicrogyria, Wide nasal bridge, Iris h... |
ORPHA:398073 |
| Fanconi Anemia, Complementation Group F |
|
Sacral dimple, Leukopenia, Anemia, Absent thumb, Cafe-au-lait spot, Decreased response to growth ... |
OMIM:603467 |
| Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities |
|
Brachycephaly, High palate, Plagiocephaly, Abnormal globus pallidus morphology, Pectus excavatum,... |
OMIM:618603 |
| Multiple Pterygium Syndrome, Escobar Variant |
|
Neck pterygia, Flexion contracture, Multiple joint contractures, Anterior clefting of vertebral b... |
OMIM:265000 |
| Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Patent ductus arteriosus, Abnormality of the philtrum, Camptodactyly of finger, High palate, Mids... |
ORPHA:2863 |
| Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Brachycephaly, Micrognathia, Large fontanelles, Short palm, Short nose, Cryptorchidism, Malar fla... |
ORPHA:171839 |
| Rothmund-Thomson Syndrome, Type 2 |
|
Premature graying of hair, Delayed eruption of teeth, Micrognathia, Microdontia, Sparse eyelashes... |
OMIM:268400 |
| Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Brachycephaly, Delayed closure of the anterior fontanelle, Lateral ventricle dilatation, Agenesis... |
OMIM:618736 |
| Cofs Syndrome |
|
Camptodactyly of finger, Aplasia/Hypoplasia of the cerebellum, Cerebral cortical atrophy, Hypogon... |
ORPHA:1466 |
| Prader-Willi Syndrome |
|
Precocious puberty, Adrenal insufficiency, Iris hypopigmentation, Primary amenorrhea, Short palm,... |
OMIM:176270 |
| Premature Ovarian Failure 6 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Female infertility, Elevated circulating f... |
OMIM:612310 |
| Corpus Callosum Agenesis-Abnormal Genitalia Syndrome |
|
Cerebral cortical atrophy, Hypospadias, Abnormal hair pattern, Scoliosis, Microcephaly, Generaliz... |
ORPHA:2508 |
| Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Brachycephaly, Abnormality of cranial sutures, Micrognathia, Increased bone mineral density, Shor... |
ORPHA:163649 |
| 4Q21 Microdeletion Syndrome |
|
Short foot, Kyphosis, Small hand, Cerebellar hypoplasia, Synophrys, Long eyelashes, Short philtru... |
ORPHA:238750 |
| Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Elevated circulating alanine aminotransferase concentration, Convex nasal ridge, Kyphosis, Microg... |
OMIM:615381 |
| Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion |
OMIM:183350 |
| Ataxia-Pancytopenia Syndrome |
|
Acute myelomonocytic leukemia, Anemia, Ankle clonus, Pancytopenia, Abnormal cerebral white matter... |
OMIM:159550 |
| Lissencephaly 3 |
|
Hypoplasia of the brainstem, Agyria, Cerebellar vermis hypoplasia, Lissencephaly, Microcephaly, P... |
OMIM:611603 |
| Diencephalic Syndrome |
|
Decreased body weight, Cachexia, Long penis, Everted lower lip vermilion, Abnormality of the hypo... |
ORPHA:1672 |
| Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Central hypothyroidism, Precocious puberty, Perisylvian polymicrogyria, Iris hypopigmentation, De... |
ORPHA:98754 |
| Prader-Willi Syndrome |
|
Central hypothyroidism, Precocious puberty, Perisylvian polymicrogyria, Hypoplastic labia majora,... |
ORPHA:739 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Brachycephaly, Prominence of the zygomatic bone, Plagiocephaly, Micrognathia, Secondary hyperpara... |
ORPHA:2785 |
| Proteus Syndrome |
|
Melanocytic nevus, Cachexia, Hip dislocation, Abnormality of the wrist, Long penis, Generalized h... |
ORPHA:744 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hypoglycemia, Impaired gluconeogenesis |
OMIM:261650 |
| Hypergonadotropic Hypogonadism And Partial Alopecia |
|
Streak ovary, Hypergonadotropic hypogonadism |
OMIM:241090 |
| Bryant-Li-Bhoj Neurodevelopmental Syndrome 1 |
|
Flexion contracture, Plagiocephaly, Cerebral cortical atrophy, Micrognathia, Midface retrusion, E... |
OMIM:619720 |
| Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Hypopigmentation of the skin, Kyphosis, Albinism, Hypopigmentation of hair, Platyspondyly, Osteop... |
ORPHA:2786 |
| Fanconi Anemia, Complementation Group D1 |
|
Acute myeloid leukemia, Cafe-au-lait spot, Failure to thrive, Microcephaly, Bone marrow hypocellu... |
OMIM:605724 |
| Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Hypothyroidism, Cirrhosis, Hepatitis, Neutropenia in presence of anti-neutropil antibodies, Hyper... |
ORPHA:228426 |
| Premature Ovarian Failure 9 |
|
Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated circulating luteinizing hormon... |
OMIM:615724 |
| Ovarian Dysgenesis 3 |
|
Aplasia of the ovary, Female infertility, Elevated circulating luteinizing hormone level, Primary... |
OMIM:614324 |
| Borjeson-Forssman-Lehmann Syndrome |
|
Scheuermann-like vertebral changes, Short toe, Thickened calvaria, Kyphosis, Shortening of all di... |
OMIM:301900 |
| Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia |
|
Dental malocclusion, Mandibular prognathia, High palate, Relative macrocephaly, Anteverted nares |
OMIM:618292 |
| Rothmund-Thomson Syndrome Type 1 |
|
Hypothyroidism, Delayed eruption of teeth, Abnormal trabecular bone morphology, Microdontia, Alop... |
ORPHA:221008 |
| Chromosome 3Pter-P25 Deletion Syndrome |
|
Brachycephaly, Wide nasal bridge, Synophrys, Micrognathia, Prominent metopic ridge, Sacral dimple... |
OMIM:613792 |
| Werner Syndrome |
|
Convex nasal ridge, Abnormal testis morphology, Premature graying of hair, Increased bone mineral... |
ORPHA:902 |
| Propionic Acidemia |
|
Anemia, Pancytopenia, Failure to thrive, Osteoporosis, Hepatomegaly, Cerebral atrophy, Thrombocyt... |
OMIM:606054 |
| Congenital Bile Acid Synthesis Defect Type 1 |
|
Cirrhosis, Jaundice, Elevated hepatic transaminase, Biliary tract abnormality, Neonatal cholestat... |
ORPHA:79301 |
| Premature Ovarian Failure 18 |
|
Irregular menstruation, Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the ... |
OMIM:619203 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Central hypothyroidism, Precocious puberty, Perisylvian polymicrogyria, Iris hypopigmentation, De... |
ORPHA:177901 |
| Multicentric Reticulohistiocytosis |
|
Arthritis, Histiocytosis, Cachexia |
ORPHA:139436 |
| Neurodevelopmental Disorder With Epilepsy And Brain Atrophy |
|
Mandibular prognathia, Recurrent aspiration pneumonia, Cerebellar hypoplasia, Cortical dysplasia,... |
OMIM:619971 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatic failure, Recurrent respiratory infections, Fulminant hepatitis, Lymphocytosis, Recurrent ... |
OMIM:308240 |
| Gaucher Disease, Type Iii |
|
Decreased body weight, Pancytopenia, Hepatomegaly, Thrombocytopenia, Splenomegaly |
OMIM:231000 |
| Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Hyperlordosis, Flexion contracture, Spinal rigidity, Cachexia, Limitation of joint mobility, Join... |
ORPHA:157973 |
| Premature Ovarian Failure 10 |
|
Premature ovarian insufficiency, Decreased testicular size, Azoospermia, Hypoplasia of the ovary,... |
OMIM:612885 |
| Chromosome 5P13 Duplication Syndrome |
|
Brachycephaly, High palate, Turricephaly, Wide nasal bridge, Small for gestational age, Craniosyn... |
OMIM:613174 |
| Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Brachycephaly, Lateral ventricle dilatation, Broad eyebrow, Hirsutism, Prominent nose, Microcepha... |
OMIM:619244 |
| Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
Brachycephaly, Hyperlordosis, Cerebral cortical atrophy, High palate, Furrowed tongue, Micrognath... |
ORPHA:1387 |
| Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Central hypothyroidism, Precocious puberty, Perisylvian polymicrogyria, Iris hypopigmentation, De... |
ORPHA:98793 |
| Ck Syndrome |
|
Retrognathia, Hyperlordosis, High palate, Kyphosis, Micrognathia, Abnormal cortical bone morpholo... |
OMIM:300831 |
| Usmani-Riazuddin Syndrome, Autosomal Recessive |
|
High palate, Lumbar scoliosis, Joint laxity, Pectus excavatum, Agenesis of corpus callosum |
OMIM:619548 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Central hypothyroidism, Precocious puberty, Perisylvian polymicrogyria, Iris hypopigmentation, De... |
ORPHA:177904 |
| Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Brachycephaly, Thin bony cortex, Wrist flexion contracture, Delayed closure of the anterior fonta... |
OMIM:259600 |
| Fanconi Anemia, Complementation Group B |
|
Patent ductus arteriosus, Absent thumb, Abnormality of chromosome stability, Hypogonadism, Bilate... |
OMIM:300514 |
| Dyskeratosis Congenita, X-Linked |
|
Acute myeloid leukemia, Premature graying of hair, Bone marrow hypocellularity, Sparse eyelashes,... |
OMIM:305000 |
| Transcobalamin Deficiency |
|
Abnormality of chromosome stability, Pancytopenia, Lymphopenia, Megaloblastic bone marrow, Thromb... |
ORPHA:859 |
| Lissencephaly, X-Linked, 1 |
|
Agyria, Lissencephaly, Pachygyria, Micropenis, Agenesis of corpus callosum |
OMIM:300067 |
| Phelan-Mcdermid Syndrome |
|
Sacral dimple, Toenail dysplasia, Hypoplastic toenails, Dental malocclusion, Patent ductus arteri... |
OMIM:606232 |
| Alexander Disease Type I |
|
Cachexia, Rosenthal fibers, Abnormal cerebral white matter morphology, Failure to thrive, Focal T... |
ORPHA:363717 |
| Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Kyphosis, Macrovesicular hepatic steatosis, Failure to thrive, Osteoporosis, Scoliosis, Hepatomeg... |
OMIM:618234 |
| Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Abnormal spermatogenesis, Testicular microlithiasis, Secondary amenorrhea, Azoospermia, Male hypo... |
OMIM:228300 |
| Cleft Palate, Isolated |
|
Micrognathia, Cleft palate, Increased overbite, Gingival overgrowth, Anterior open-bite malocclusion |
OMIM:119540 |
| Martin-Probst Syndrome |
|
Dental malocclusion, Hypothyroidism, Wide nasal bridge, Bifid scrotum, Thick lower lip vermilion,... |
OMIM:300519 |
| Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Patent ductus arteriosus, Delayed closure of the anterior fontanelle, Kyphosis, Delayed eruption ... |
OMIM:619797 |
| Symptomatic Form Of Hemochromatosis Type 1 |
|
Hypothyroidism, Hepatocellular carcinoma, Cholangiocarcinoma, Chronic hepatic failure, Hepatomega... |
ORPHA:465508 |
| Fanconi Anemia, Complementation Group P |
|
Anemia, Absent thumb, Cafe-au-lait spot, Hypoplasia of the radius, Micrognathia, Bulbous nose, Pa... |
OMIM:613951 |
| X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Kyphosis, Small for gestational age, Increased serum serotonin, Depressed nasal bridge, Hirsutism... |
ORPHA:85288 |
| Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
T lymphocytopenia, Recurrent aspiration pneumonia, Elevated hepatic transaminase, Hepatosplenomeg... |
ORPHA:79124 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Hypothyroidism, Bifid tongue, Wide nasal bridge, Exaggerated median tongue furrow, Bifid uvula, S... |
ORPHA:453504 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Hypothyroidism, Bifid tongue, Wide nasal bridge, Exaggerated median tongue furrow, Bifid uvula, S... |
ORPHA:352665 |
| Shwachman-Diamond Syndrome |
|
Acute myeloid leukemia, Delayed eruption of teeth, Impaired neutrophil chemotaxis, Elevated hepat... |
ORPHA:811 |
| Riboflavin Transporter Deficiency |
|
Diabetes insipidus, Cerebral cortical atrophy, Hypogonadism, Iris hypopigmentation, Cachexia |
ORPHA:97229 |
| Dominant Beta-Thalassemia |
|
Hypothyroidism, Adrenal insufficiency, Malar prominence, Hepatocellular carcinoma, Hepatosplenome... |
ORPHA:231226 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Brachycephaly, Flexion contracture, Wide nasal bridge, Micrognathia, Pulmonary hypoplasia, Short ... |
OMIM:616897 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Patent ductus arteriosus, Hepatic failure, Delayed closure of the anterior fontanelle, Decreased ... |
OMIM:614886 |
| Coffin-Lowry Syndrome |
|
Delayed closure of the anterior fontanelle, Decreased body weight, Lumbar kyphosis, Pectus excava... |
OMIM:303600 |
| Ovarian Dysgenesis 10 |
|
Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated circulating follicle stimulati... |
OMIM:619834 |
| Cutis Laxa, Autosomal Recessive, Type Iib |
|
High palate, Narrow nasal ridge, Long philtrum, Agenesis of corpus callosum, Midface retrusion, P... |
OMIM:612940 |
| Odontochondrodysplasia 1 |
|
Biconvex vertebral bodies, Dentinogenesis imperfecta, Genu varum, Long philtrum, Short metacarpal... |
OMIM:184260 |
| Magel2-Related Prader-Willi-Like Syndrome |
|
Central hypothyroidism, Precocious puberty, Flexion contracture, Small pituitary gland, Primary a... |
ORPHA:398069 |
| Fryns-Smeets-Thiry Syndrome |
|
Patellar aplasia, Wide mouth, Thick lower lip vermilion, Micrognathia, Cachexia, Short philtrum, ... |
ORPHA:2058 |
| Autoinflammation With Infantile Enterocolitis |
|
Anemia, Reduced natural killer cell count, Pancytopenia, Diffuse alveolar hemorrhage, Failure to ... |
OMIM:616050 |
| Immunodeficiency 16 |
|
Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia |
OMIM:615593 |
| Desmosterolosis |
|
Ambiguous genitalia, female, Micrognathia, Alveolar ridge overgrowth, Cleft palate, Arthrogryposi... |
OMIM:602398 |
| Primary Condylar Hyperplasia |
|
Abnormal mandible condylar process morphology, Macrodontia, Anterior open-bite malocclusion, Abno... |
ORPHA:477781 |
| Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Camptodactyly of finger, Wrist swelling, Wide nasal bridge, Micrognathia, Cachexia, Abnormality o... |
ORPHA:2774 |
| Sotos Syndrome |
|
High anterior hairline, Genu valgum, Small nail, Narrow palate, Dolichocephaly, Frontal bossing, ... |
OMIM:117550 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Hypothyroidism, Bronchiectasis, Recurrent sinusitis, Generalized lymphadenopathy, Vitiligo, Throm... |
OMIM:614700 |
| Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hepatic fibrosis, Cirrhosis, Hepatocellular carcinoma, Elevated hepatic transaminase, Portal fibr... |
ORPHA:369 |
| Premature Ovarian Failure 2B |
|
Premature ovarian insufficiency, Delayed puberty, Female infertility, Primary amenorrhea, Osteopo... |
OMIM:300604 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 2 |
|
Cirrhosis, Myeloid leukemia, Premature graying of hair, Pancytopenia, Bone marrow hypocellularity... |
OMIM:614743 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Chronic neutropenia, Anemia, Hypoplasia of the brainstem, Cerebellar hypoplasia, Simplified gyral... |
OMIM:619302 |
| Spastic Paraplegia 18, Autosomal Recessive |
|
Hypoplasia of the corpus callosum, High palate, Scoliosis, Kyphosis |
OMIM:611225 |
| Recombinant Chromosome 8 Syndrome |
|
Patent ductus arteriosus, Brachycephaly, Joint contracture of the hand, Thick lower lip vermilion... |
OMIM:179613 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
|
Brachycephaly, Thin bony cortex, Synophrys, Bifid uvula, Pectus excavatum, Short neck, Smooth phi... |
OMIM:309583 |
| Short Syndrome |
|
Underdeveloped nasal alae, Dental malocclusion, Wide nasal bridge, Delayed eruption of teeth, Sma... |
OMIM:269880 |
| Ring Chromosome 10 Syndrome |
|
Long philtrum, Wide nasal bridge, Micrognathia, Cachexia, Pectus excavatum, Frontal bossing, Shor... |
ORPHA:1438 |
| Even-Plus Syndrome |
|
Vertebral clefting, Brachycephaly, High palate, Depressed nasal ridge, Synophrys, Hypodontia, Age... |
OMIM:616854 |
| Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Thrombocytopenia, Rhizomelia, Agenesis of corpus callosum |
OMIM:166990 |
| Sialidosis Type 2 |
|
Flexion contracture, Kyphosis, Osteoporosis, Hepatomegaly, Splenomegaly, Umbilical hernia, Abnorm... |
ORPHA:87876 |
| Intellectual Developmental Disorder, Autosomal Dominant 65 |
|
Thick upper lip vermilion, Short foot, Wide nasal bridge, Long philtrum, Turricephaly, Synophrys,... |
OMIM:619320 |
| Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome |
|
Underdeveloped nasal alae, Dental malocclusion, Widely spaced teeth, Bone spicule pigmentation of... |
OMIM:616108 |
| Aminopterin Syndrome Sine Aminopterin |
|
Brachycephaly, Decreased body weight, High palate, Joint contracture of the hand, Frontal upsweep... |
OMIM:600325 |
| Griscelli Syndrome Type 2 |
|
Neutropenia, Premature graying of hair, Iris hypopigmentation, Jaundice, Pancytopenia, Hypopigmen... |
ORPHA:79477 |
| Frontometaphyseal Dysplasia 1 |
|
Camptodactyly of finger, Wrist flexion contracture, Wide nasal bridge, Delayed eruption of teeth,... |
OMIM:305620 |
| Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Cirrhosis, Cerebral calcification, Pancytopenia, Testicular atrophy, Reticulated skin pigmentatio... |
OMIM:613987 |
| Osteogenesis Imperfecta, Type Xiii |
|
Dentinogenesis imperfecta, Decreased body weight, Long philtrum, Recurrent fractures, Increased b... |
OMIM:614856 |
| Clark-Baraitser syndrome |
|
Macroorchidism, Genu valgum, Kyphosis, Exaggerated median tongue furrow, Prominent median palatal... |
OMIM:300602 |
| Osteogenesis Imperfecta |
|
Brachycephaly, Convex nasal ridge, Flexion contracture, Delayed eruption of teeth, Micrognathia, ... |
ORPHA:666 |
| Braddock-Carey Syndrome 1 |
|
Hyperlordosis, Enamel hypoplasia, Curly hair, Pierre-Robin sequence, Small hand, Wide nasal bridg... |
OMIM:619980 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Delayed cranial suture closure, Cerebral cortical atrophy, Humeroradial synostosis, Micrognathia,... |
OMIM:151050 |
| Fetal Akinesia Deformation Sequence 4 |
|
11 pairs of ribs, Retrognathia, High palate, Kyphosis, Wide nasal bridge, Micrognathia, Camptodac... |
OMIM:618393 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Thin bony cortex, Elevated hepatic transaminase, Pectus excavatum, Hepatic steatosis, Decreased l... |
OMIM:613658 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Hypoglycemia, Hepatomegaly |
OMIM:615158 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Basal ganglia gliosis, Flexion contracture, Recurrent aspiration pneumonia, Lateral ventricle dil... |
ORPHA:79243 |
| Beta-Thalassemia Major |
|
Hypothyroidism, Adrenal insufficiency, Malar prominence, Hepatocellular carcinoma, Hepatosplenome... |
ORPHA:231214 |
| Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Sacral dimple, Hyperlordosis, Brachycephaly, Long philtrum, Kyphosis, Wide nasal bridge, Synophry... |
OMIM:615761 |
| Kabuki Syndrome 2 |
|
Dental malocclusion, Sparse lateral eyebrow, Decreased body weight, Short 5th finger, Natal tooth... |
OMIM:300867 |
| Mucopolysaccharidosis, Type Iva |
|
Grayish enamel, Lumbar kyphosis, Short neck, Ovoid vertebral bodies, Hepatomegaly, Anterior beaki... |
OMIM:253000 |
| Lissencephaly 7 With Cerebellar Hypoplasia |
|
Cerebellar hypoplasia, Micrognathia, Agyria, Agenesis of corpus callosum, Lissencephaly, Downturn... |
OMIM:616342 |
| Cardiomyopathy, Dilated, 1I |
|
Cardiomegaly, Dilated cardiomyopathy |
OMIM:604765 |
| Glycerol Kinase Deficiency |
|
Small for gestational age, Adrenal insufficiency, Adrenocortical hypoplasia, Frontal bossing, Dow... |
OMIM:307030 |
| Premature Ovarian Failure 8 |
|
Premature ovarian insufficiency, Elevated circulating follicle stimulating hormone level, Elevate... |
OMIM:615723 |
| Acrodysostosis 2 With Or Without Hormone Resistance |
|
Short metatarsal, Mandibular prognathia, Advanced ossification of carpal bones, Short metacarpal,... |
OMIM:614613 |
| 46,Xx Gonadal Dysgenesis |
|
Decreased fertility, Abnormality of secondary sexual hair, Ambiguous genitalia, Decreased serum e... |
ORPHA:243 |
| Trisomy 18 |
|
Camptodactyly of finger, Non-midline cleft lip, Aplasia/Hypoplasia of the corpus callosum, Narrow... |
ORPHA:3380 |
| Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies |
|
Sparse eyebrow, Mandibular prognathia, Scaphocephaly, Wide mouth, Frontal bossing, Thin upper lip... |
OMIM:619989 |
| Frontonasal Dysplasia 1 |
|
Anterior basal encephalocele, Cranium bifidum occultum, Hypoplastic frontal sinuses, Wide nasal b... |
OMIM:136760 |
| Müllerian Aplasia And Hyperandrogenism |
|
Abnormal vagina morphology, Abnormality of the ovary, Hypoplasia of the uterus, Primary amenorrhea |
ORPHA:247768 |
| Ritscher-Schinzel Syndrome 4 |
|
Brachycephaly, Curly hair, Narrow palate, High palate, Wide nasal bridge, Wide mouth, Premature a... |
OMIM:619435 |
| Wolf-Hirschhorn Syndrome |
|
Wide nasal bridge, Micrognathia, Abnormal lip morphology, Short hallux, Calvarial skull defect, C... |
ORPHA:280 |
| Pseudopseudohypoparathyroidism |
|
Enamel hypoplasia, Short metacarpal, Delayed eruption of teeth, Depressed nasal bridge, Short nec... |
OMIM:612463 |
| Desmoplastic Small Round Cell Tumor |
|
Anemia, Neoplasm of the lung, Weight loss, Neoplasm of the pancreas, Cachexia, Abnormality of the... |
ORPHA:83469 |
| Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Slender build, Abnormal cerebral white matter morphology, Cachexia, Weight loss |
OMIM:613662 |
| Immunodeficiency 105 |
|
Increased B cell count, Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia, ... |
OMIM:619924 |
| Momo Syndrome |
|
Short sternum, Dental malocclusion, Brachycephaly, High palate, Long philtrum, Wide nasal bridge,... |
OMIM:157980 |
| Pseudohypoparathyroidism, Type Ic |
|
Enamel hypoplasia, Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration... |
OMIM:612462 |
| Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Knee flexion contracture, Arthritis, Elbow flexion contracture, Pancytopenia, Hepatosplenomegaly,... |
OMIM:604416 |
| Lymphoproliferative Syndrome 2 |
|
Oral ulcer, Pancytopenia, Hepatosplenomegaly, Recurrent pneumonia, Lymphadenopathy, Hemophagocyto... |
OMIM:615122 |
| Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Cerebellar hypoplasia, Polymicrogyria, Agenesis of corpus callosum, Primary microcephaly |
ORPHA:171703 |
| Potocki-Shaffer Syndrome |
