| Fraxf Syndrome |
|
Folate-dependent fragile site at Xq28 |
ORPHA:100974 |
| Warburg Micro Syndrome 1 |
|
Micrognathia, Perisylvian polymicrogyria, Hypertrichosis, Failure to thrive, Kyphoscoliosis, Oste... |
OMIM:600118 |
| Mental Retardation, Buenos Aires Type |
|
Carious teeth, Hypospadias, Partial agenesis of the corpus callosum, Pectus excavatum, Prominent ... |
OMIM:249630 |
| Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Hypospadias, Sparse eyelashes, Patent ductus arteriosus, Thin corpus callosum, Aplastic/hypoplast... |
OMIM:619293 |
| Pycnodysostosis |
|
Carious teeth, Decreased serum insulin-like growth factor 1, Midface retrusion, Obtuse angle of m... |
ORPHA:763 |
| Mcdonough Syndrome |
|
Underdeveloped nasal alae, Cachexia, Micrognathia, Pectus excavatum, Prominent nose, Open bite, A... |
ORPHA:2471 |
| Robinow Syndrome, Autosomal Dominant 2 |
|
Short nose, Micropenis, Thin upper lip vermilion, Anteverted nares, Triangular mouth, Umbilical h... |
OMIM:616331 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Micrognathia, Hirsutism, Long philtrum, Failure to thrive, Kyphoscoliosis, Osteoporosis, Thin ver... |
OMIM:214150 |
| Congenital Disorder Of Glycosylation, Type Iik |
|
Hepatomegaly, Midface retrusion, Failure to thrive, Kyphoscoliosis, Osteoporosis, Malar flattenin... |
OMIM:614727 |
| Fanconi Anemia, Complementation Group S |
|
Chromosome breakage, Ovarian neoplasm, Low anterior hairline, Failure to thrive, Anemia, Prominen... |
OMIM:617883 |
| Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Hepatomegaly, Micrognathia, High palate, Low anterior hairline, Failure to thrive, Trigonocephaly... |
ORPHA:329178 |
| Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Spinal cord compression, Myelopathy, Diabetes mellitus |
OMIM:602475 |
| Transaldolase Deficiency |
|
Patent ductus arteriosus, Splenomegaly, Hepatosplenomegaly, Pancytopenia, Depressed nasal bridge,... |
OMIM:606003 |
| Alpha-Mannosidosis |
|
Widely spaced teeth, Hepatomegaly, Type II diabetes mellitus, Depressed nasal bridge, Open bite, ... |
ORPHA:61 |
| Lig4 Syndrome |
|
Abnormality of bone marrow cell morphology, Leukocytosis, Hepatomegaly, Micrognathia, Type II dia... |
ORPHA:99812 |
| 3Q13 Microdeletion Syndrome |
|
Long philtrum, Wide nasal bridge, Anteverted nares, Abnormality of the fontanelles or cranial sut... |
ORPHA:1621 |
| Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Smooth philtrum, Hip contracture, Global brain atrophy, Bulbous nose, Thin upper lip vermilion, C... |
OMIM:616801 |
| Microcephaly 16, Primary, Autosomal Recessive |
|
Micrognathia, Simplified gyral pattern, Knee flexion contracture, Decreased body weight, Open mou... |
OMIM:616681 |
| Forsythe-Wakeling Syndrome |
|
Osteoporosis, Prominent nasal bridge, Frontal bossing, Thrombocytopenia, Decreased body weight, M... |
OMIM:613606 |
| Camptodactyly Syndrome, Guadalajara Type 1 |
|
Abnormal form of the vertebral bodies, Short nose, Cubitus valgus, Camptodactyly of finger, Short... |
ORPHA:1327 |
| Renpenning Syndrome |
|
Hypospadias, Prominent nose, Cachexia, Pectus excavatum, Cleft palate, Thin eyebrow, Macrodontia,... |
ORPHA:3242 |
| Seckel Syndrome 1 |
|
Hypospadias, Small anterior fontanelle, Cleft palate, 11 pairs of ribs, Pancytopenia, Elbow flexi... |
OMIM:210600 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Bloom Syndrome |
|
Decreased fertility in females, Prominent nose, Spotty hypopigmentation, Chromosome breakage, Typ... |
OMIM:210900 |
| Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Hypospadias, Insulin-resistant diabetes mellitus, Micropenis, Premature ovarian insufficiency, Ab... |
ORPHA:2959 |
| Bone Marrow Failure Syndrome 3 |
|
Reduced bone mineral density, Hyperkeratosis, Pancytopenia, Sparse hair, Micrognathia, Hypodontia... |
OMIM:617052 |
| Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Leukopenia, Failure to thrive, Nail dystrophy, Osteoporosis, Bone marrow hypocellularity, Prematu... |
OMIM:613989 |
| Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Hypoglycemia, Hyperinsulinemia |
OMIM:610021 |
| Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum |
|
Micrognathia, Depressed nasal bridge, Thin vermilion border, Arthrogryposis multiplex congenita, ... |
OMIM:618766 |
| Hallermann-Streiff Syndrome |
|
Sparse eyelashes, Malar flattening, Sparse and thin eyebrow, Recurrent respiratory infections, Sp... |
OMIM:234100 |
| Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Cleft palate, Pierre-Robin sequence, Abnormality of the knee, Short nose, Micropenis, Sparse hair... |
ORPHA:251028 |
| Moynahan Syndrome |
|
Cachexia, Alopecia, Hypogonadism, Hyperkeratosis, Sparse hair, Microcephaly |
ORPHA:2574 |
| Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Midface retrusion, Hepatitis, Splenomegaly, Low hanging columella, Hypersplenism, Limited elbow e... |
OMIM:613385 |
| Scleroderma, Familial Progressive |
|
Chromosome breakage, Abnormality of chromosome stability |
OMIM:181750 |
| Rubinstein-Taybi Syndrome 2 |
|
Carious teeth, Prominent nose, Micrognathia, Convex nasal ridge, Hirsutism, High palate, Long eye... |
OMIM:613684 |
| Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Plagiocephaly, Micrognathia, Brachycephaly, Long philtrum, Short nose, Long eyelashes, Wide nasal... |
OMIM:618577 |
| Wt Limb-Blood Syndrome |
|
Micrognathia, Hypoplastic anemia, Leukemia, Short thumb, Irregular hyperpigmentation, Absent thum... |
OMIM:194350 |
| Hyperinsulinism Due To Glucokinase Deficiency |
|
Type II diabetes mellitus, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Hand tremor, ... |
ORPHA:79299 |
| Nijmegen Breakage Syndrome-Like Disorder |
|
Chromosomal breakage induced by ionizing radiation |
OMIM:613078 |
| Hajdu-Cheney Syndrome |
|
Hypospadias, Short nail, Hirsutism, Foot acroosteolysis, Patent ductus arteriosus, Pathologic fra... |
OMIM:102500 |
| Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Pectus excavatum, Abnormal vertebral morphology, Delayed epiphyseal ossification, Wide nasal brid... |
ORPHA:166024 |
| Osteogenesis Imperfecta, Type Xii |
|
Brachyturricephaly, Micrognathia, High palate, Depressed nasal bridge, Osteoporosis, Malar flatte... |
OMIM:613849 |
| Prieto X-Linked Mental Retardation Syndrome |
|
Prominent nose, Patellar subluxation, Osteoporosis, 11 pairs of ribs, Retrognathia, Cerebral atro... |
OMIM:309610 |
| X-Linked Intellectual Disability, Cabezas Type |
|
Cubitus valgus, Abnormal hair pattern, Camptodactyly of finger, Prominent nose, High palate, Open... |
ORPHA:85293 |
| Hall-Riggs Mental Retardation Syndrome |
|
Thick lower lip vermilion, Prominent nose, Hypoplasia of the primary teeth, Depressed nasal bridg... |
OMIM:234250 |
| Aredyld Syndrome |
|
Hepatomegaly, Cachexia, Smooth philtrum, Type II diabetes mellitus, Mandibular prognathia, Sparse... |
ORPHA:1133 |
| Immunodeficiency 54 |
|
Chromosome breakage, Hepatomegaly, Adrenal insufficiency, Lymphadenopathy, Failure to thrive, Hyp... |
OMIM:609981 |
| Maternal Uniparental Disomy Of Chromosome 1 |
|
Hepatomegaly, Smooth philtrum, Epiphyseal stippling, Failure to thrive, Delayed closure of the an... |
ORPHA:251009 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Abnormal cortical gyration, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Paten... |
OMIM:614576 |
| 3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
|
Hypoglycemia |
ORPHA:35701 |
| X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome |
|
Prominent nose, Abnormal number of incisors, Patellar subluxation, Osteoporosis, Retrognathia, Ce... |
ORPHA:2958 |
| Chromosomal Instability With Tissue-Specific Radiosensitivity |
|
Abnormality of chromosome stability |
OMIM:215510 |
| Hajdu-Cheney Syndrome |
|
Hypospadias, Cleft palate, Patent ductus arteriosus, Splenomegaly, Absent frontal sinuses, Abnorm... |
ORPHA:955 |
| Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Recurrent hypoglycemia, Fasting ... |
ORPHA:263458 |
| Mccune-Albright Syndrome |
|
Increased serum testosterone level, Goiter, Fibrous dysplasia of the bones, Increased circulating... |
ORPHA:562 |
| Takenouchi-Kosaki Syndrome |
|
Hypospadias, Smooth philtrum, Thrombocytopenia, Patent ductus arteriosus, Bulbous nose, Cerebella... |
OMIM:616737 |
| Rothmund-Thomson Syndrome, Type 1 |
|
Nail dystrophy, Osteoporosis, Thin nail, Absent eyelashes, Absent eyebrow, Conical tooth, Male hy... |
OMIM:618625 |
| Pycnodysostosis |
|
Carious teeth, Spondylolysis, Micrognathia, Delayed eruption of permanent teeth, Prominent nose, ... |
OMIM:265800 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Carious teeth, Hepatomegaly, Sandwich appearance of vertebral bodies, Failure to thrive, Osteopet... |
OMIM:259700 |
| Aicardi-Goutieres Syndrome 4 |
|
Hepatomegaly, Convex nasal ridge, Elevated hepatic transaminase, Cerebral calcification, Splenome... |
OMIM:610333 |
| Lowry-Maclean Syndrome |
|
Hypospadias, Small anterior fontanelle, Cleft palate, Short nose, Aplasia/Hypoplasia of the corpu... |
ORPHA:2409 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Epiphyseal stippling, Short metatarsal, Delayed eruption of teeth, Elevated circulating thyroid-s... |
OMIM:101800 |
| Mulibrey Nanism |
|
Hepatomegaly, Pigmentary retinopathy, Hypodontia, Depressed nasal bridge, Hypoplastic frontal sin... |
OMIM:253250 |
| Deafness-Intellectual Disability Syndrome, Martin-Probst Type |
|
Thick lower lip vermilion, Micrognathia, Bifid scrotum, Wide mouth, Malar flattening, Wide nasal ... |
ORPHA:85321 |
| Cardiofaciocutaneous Syndrome 1 |
|
Hyperpigmentation of the skin, Short nose, Cubitus valgus, Splenomegaly, Bulbous nose, Aplasia/Hy... |
OMIM:115150 |
| Baraitser-Winter Syndrome 1 |
|
Short nose, Patent ductus arteriosus, Micropenis, Thin upper lip vermilion, Anteverted nares, Low... |
OMIM:243310 |
| Potocki-Lupski Syndrome |
|
Prominent nasal tip, Micrognathia, Smooth philtrum, High palate, Wide mouth, Small for gestationa... |
OMIM:610883 |
| Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Hyperinsulinemic hypoglycemia, Wide nose, Osteoporosis, Delayed puberty, Primary amenorrhea, Shor... |
OMIM:616033 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Hepatomegaly, Hypoglycemia |
OMIM:615158 |
| Christianson Syndrome |
|
Cachexia, Pectus excavatum, Mandibular prognathia, Arthrogryposis multiplex congenita, Abnormalit... |
ORPHA:85278 |
| Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Smooth philtrum, Hip contracture, Enlarged naris, Thin upper lip vermilion, Anteverted nares, Elb... |
ORPHA:371364 |
| Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatomegaly, Failure to thrive, Primary adrenal insufficiency, Hypogonadism, Hepatic steatosis, ... |
OMIM:617872 |
| Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Hypoglycemia, Cardiomyopathy |
OMIM:609016 |
| Cranioectodermal Dysplasia |
|
Pectus excavatum, Hypodontia, Microdontia, Rhizomelia, Craniosynostosis, Osteoporosis, Abnormal d... |
ORPHA:1515 |
| 19Q13.11 Microdeletion Syndrome |
|
Hypospadias, Underdeveloped nasal alae, Cachexia, Fine hair, Bifid scrotum, Wide mouth, Failure t... |
ORPHA:217346 |
| Shashi-Pena Syndrome |
|
Highly arched eyebrow, Broad nasal tip, Osteoporosis, Kyphosis, Macrocephaly, Retrognathia, Scoli... |
OMIM:617190 |
| Flynn-Aird Syndrome |
|
Increased bone density with cystic changes, Carious teeth, Alopecia of scalp, Kyphoscoliosis, Ost... |
OMIM:136300 |
| Zimmermann-Laband Syndrome |
|
Cleft palate, Generalized hyperpigmentation, Abnormal external genitalia, Splenomegaly, Anterior ... |
ORPHA:3473 |
| Glycogen Storage Disease 0, Liver |
|
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia |
OMIM:240600 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Micrognathia, Short philtrum, Cloverleaf skull, Large fontanelles, Rhizomelia, Platyspondyly, Pla... |
ORPHA:93267 |
| Greig Cephalopolysyndactyly Syndrome |
|
Hypospadias, Agenesis of corpus callosum, Metopic synostosis, Hirsutism, Umbilical hernia, Trigon... |
OMIM:175700 |
| Maternal Uniparental Disomy Of Chromosome X |
|
Depressed nasal bridge, Azoospermia, Low posterior hairline, Cubitus valgus, Thin vermilion borde... |
ORPHA:261519 |
| Van Maldergem Syndrome 2 |
|
Hypospadias, Bifid scrotum, Malar flattening, Micropenis, Short fourth metatarsal, Hypoplasia of ... |
OMIM:615546 |
| Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome |
|
Osteoporosis, Wormian bones, Frontal bossing, Microcephaly, Short distal phalanx of finger, Joint... |
ORPHA:2787 |
| Mcdonough Syndrome |
|
Hypoplastic toenails, Prominent nose, Micrognathia, Pectus excavatum, Short philtrum, Mandibular ... |
OMIM:248950 |
| Flynn-Aird Syndrome |
|
Carious teeth, Bone cyst, Cachexia, Type II diabetes mellitus, Alopecia, Primary adrenal insuffic... |
ORPHA:2047 |
| Microcephaly 13, Primary, Autosomal Recessive |
|
Partial agenesis of the corpus callosum, Micrognathia, Prominent nose, Small hand, Simplified gyr... |
OMIM:616051 |
| Silver-Russell Syndrome |
|
Hypospadias, Failure to thrive in infancy, Cachexia, Abnormal vagina morphology, Micrognathia, Re... |
ORPHA:813 |
| Schwartz-Jampel Syndrome |
|
Odontogenic neoplasm, Long eyelashes in irregular rows, Cleft palate, Hip contracture, Increased ... |
ORPHA:800 |
| Fanconi Anemia, Complementation Group J |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:609054 |
| Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Testicular atrophy, Nail dystrophy, Bone marrow hypocellularity, Cirrhosis, Nail dysplasia, Retic... |
OMIM:613987 |
| Tetrasomy 12P |
|
Cachexia, Long philtrum, Short nose, Thick upper lip vermilion, Delayed eruption of teeth, Abnorm... |
ORPHA:884 |
| Corpus Callosum, Agenesis Of |
|
Joint contracture of the hand, Frontal bossing, Macrocephaly, Camptodactyly, Agenesis of corpus c... |
OMIM:217990 |
| Degcags Syndrome |
|
Hypospadias, Smooth philtrum, Short nose, Patent ductus arteriosus, Hepatosplenomegaly, Pancytope... |
OMIM:619488 |
| Acrootoocular Syndrome |
|
High, narrow palate, Micrognathia, Pectus excavatum, Small for gestational age, Short finger, Fai... |
ORPHA:2980 |
| Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Micrognathia, Hypogonadotropic hypogonadism, Osteoporosis, Long eyelashes, Abnormality of the cer... |
ORPHA:48431 |
| Fragile X Syndrome |
|
Pectus excavatum, Macroorchidism, postpubertal, Folate-dependent fragile site at Xq28, Mandibular... |
OMIM:300624 |
| Non-Distal Trisomy 10Q |
|
Micrognathia, Pectus excavatum, Depressed nasal bridge, Convex nasal ridge, High palate, Brachyce... |
ORPHA:1695 |
| Auriculocondylar Syndrome 2 |
|
Mandibular condyle aplasia, Ankylosis, Micrognathia, Cleft palate, Glossoptosis, Short mandibular... |
OMIM:614669 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Carious teeth, Thrombocytopenia, Mandibular prognathia, Osteopetrosis, Chronic rhinitis due to na... |
OMIM:259710 |
| Trichorhinophalangeal Syndrome, Type I |
|
Carious teeth, Thin eyebrow, Short metatarsal, Delayed eruption of teeth, Thin upper lip vermilio... |
OMIM:190350 |
| Radio-Tartaglia Syndrome |
|
Hirsutism, Bulbous nose, Thin upper lip vermilion, Anteverted nares, Prominent nasal tip, Microgn... |
OMIM:619312 |
| Pierpont Syndrome |
|
Smooth philtrum, Long upper lip, Short nose, Malar flattening, Micropenis, Short toe, Decreased b... |
OMIM:602342 |
| Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Fine hair, Leukopenia, Osteoporosis, Bone marrow hypocellularity, Premature graying of hair, Alop... |
OMIM:613990 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1 |
|
Mediastinal lymphadenopathy, Bone marrow hypocellularity, Anemia, Osteopenia, Cirrhosis, Myeloid ... |
OMIM:614742 |
| Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Cachexia, Micrognathia, Pectus excavatum, Convex nasal ridge, Abnormal hair morphology, Abnormali... |
ORPHA:1979 |
| Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Hypospadias, Carious teeth, Smooth philtrum, Dysplastic corpus callosum, Long nose, High anterior... |
ORPHA:363444 |
| Hemifacial Atrophy, Progressive |
|
Poliosis, Delayed eruption of teeth, Kyphosis, Short mandibular rami, Tongue atrophy, Dental malo... |
OMIM:141300 |
| Chromosome 13Q33-Q34 Deletion Syndrome |
|
Hypospadias, Bifid scrotum, Patent ductus arteriosus, Delayed eruption of teeth, Low hanging colu... |
OMIM:619148 |
| Intellectual Disability, Buenos-Aires Type |
|
Fine hair, High palate, Open bite, Mandibular prognathia, Abnormal fingernail morphology, Wide na... |
ORPHA:3079 |
| Robinow Syndrome |
|
Midface retrusion, Short nose, Micropenis, Anteverted nares, Broad alveolar ridges, Umbilical her... |
ORPHA:97360 |
| Cutis Laxa, Autosomal Recessive, Type Iib |
|
Large fontanelles, Failure to thrive, Malar flattening, Congenital hip dislocation, Narrow nasal ... |
OMIM:612940 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Hypodontia, High palate, Depressed nasal bridge, Irregular vertebral endplates, Kyphoscoliosis, J... |
OMIM:612350 |
| Intermediate Osteopetrosis |
|
Sandwich appearance of vertebral bodies, Abnormality of bone mineral density, Generalized osteosc... |
ORPHA:210110 |
| Mental Retardation, Autosomal Dominant 22 |
|
Micrognathia, Smooth philtrum, Depressed nasal bridge, Thin upper lip vermilion, Agenesis of corp... |
OMIM:612337 |
| Cerebellar-Facial-Dental Syndrome |
|
Cerebellar hypoplasia, Anteverted nares, Sparse hair, Contractures involving the joints of the fe... |
ORPHA:444072 |
| Neu-Laxova Syndrome |
|
Cleft palate, Abnormal hair morphology, Rickets, Polymicrogyria, Cerebellar hypoplasia, Pterygium... |
ORPHA:2671 |
| Florid Cemento-Osseous Dysplasia |
|
Abnormal number of teeth, Abnormal cementum morphology, Periapical bone loss, Supernumerary tooth... |
ORPHA:83451 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 16 |
|
Short 5th toe, Short 2nd toe, Failure to thrive, Short 4th toe, Prominent nasal bridge, Short 5th... |
OMIM:619060 |
| 6Q25 Microdeletion Syndrome |
|
Plagiocephaly, Micrognathia, Cleft palate, High palate, Long philtrum, Failure to thrive, Externa... |
ORPHA:251056 |
| Hamamy Syndrome |
|
Hypoparathyroidism, Micrognathia, Pectus excavatum, Smooth philtrum, High palate, Brachycephaly, ... |
OMIM:611174 |
| Cronkhite-Canada Syndrome |
|
Hepatomegaly, Cachexia, Dystrophic fingernails, Generalized hyperpigmentation, Dystrophic toenail... |
ORPHA:2930 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Neutropenia, Normochromic anemia, Splenomegaly, Pancytopenia, Abnormal fingernail morphology, Inc... |
ORPHA:75564 |
| Oculodentodigital Dysplasia, Autosomal Recessive |
|
Sparse eyelashes, Abnormal dental enamel morphology, Delayed eruption of teeth, Hypoplasia of the... |
OMIM:257850 |
| Lichtenstein Syndrome |
|
Carious teeth, C1-C2 subluxation, Pectus excavatum, Neutropenia, Hirsutism, Increased susceptibil... |
OMIM:246550 |
| Lissencephaly, X-Linked, 2 |
|
Micrognathia, High palate, Long upper lip, Long philtrum, Gliosis, Prominent nasal bridge, Wide n... |
OMIM:300215 |
| Imagawa-Matsumoto Syndrome |
|
Hypertrichosis, Umbilical hernia, Mandibular prognathia, Wide nasal ridge, Melanocytic nevus, Mac... |
OMIM:618786 |
| Cornelia De Lange Syndrome 5 |
|
Cleft palate, Hirsutism, Micropenis, Limited elbow extension, Anteverted nares, Highly arched eye... |
OMIM:300882 |
| Bangstad Syndrome |
|
Convex nasal ridge, Goiter, Small for gestational age, Insulin-resistant diabetes mellitus, Cereb... |
OMIM:210740 |
| Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Hepatomegaly, Failure to thrive, Osteoporosis, Kyphosis, Macrovesicular hepatic steatosis, Scoliosis |
OMIM:618234 |
| Ataxia-Pancytopenia Syndrome |
|
Hypoplastic anemia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal macrophage morphology, ... |
ORPHA:2585 |
| Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemia |
OMIM:601820 |
| Harrod Syndrome |
|
Hypospadias, Hypopigmented skin patches, High palate, Long nose, Failure to thrive, Kyphosis, Mic... |
ORPHA:2115 |
| Muenke Syndrome |
|
Plagiocephaly, Short middle phalanx of finger, Short middle phalanx of toe, High palate, Capitate... |
OMIM:602849 |
| Van Maldergem Syndrome 1 |
|
Hypospadias, Malar flattening, Short fourth metatarsal, Hypoplasia of the maxilla, Short 4th meta... |
OMIM:601390 |
| 7Q11.23 Microduplication Syndrome |
|
Hypospadias, Cubitus valgus, Patent ductus arteriosus, Cerebellar hypoplasia, Thin upper lip verm... |
ORPHA:96121 |
| Radial-Renal Syndrome |
|
Chromosome breakage |
OMIM:179280 |
| Robinow Syndrome, Autosomal Dominant 3 |
|
Cleft palate, Short nose, Patent ductus arteriosus, Cleft lip, Micropenis, Camptodactyly, Antever... |
OMIM:616894 |
| Fanconi Anemia, Complementation Group D2 |
|
Neutropenia, Leukemia, Patent ductus arteriosus, Micropenis, Reticulocytopenia, Pancytopenia, Ann... |
OMIM:227646 |
| Noonan Syndrome 4 |
|
Blue irides, Pectus excavatum, Depressed nasal bridge, Wide mouth, Cubitus valgus, Sparse eyebrow... |
OMIM:610733 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 7 |
|
Unilateral polymicrogyria, Drooling, Lissencephaly, Pachygyria, Cerebellar hypoplasia, Hypoplasia... |
OMIM:610031 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Hypospadias, Hirsutism, Thrombocytopenia, Global brain atrophy, Micropenis, Cerebellar hypoplasia... |
OMIM:301056 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Small for gestational age, Long philtrum, Flared nostrils, Wide nasal bridge, Frontal bossing, Ba... |
OMIM:312170 |
| Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies |
|
Prominent nose, Simplified gyral pattern, Absent septum pellucidum, Hypoplasia of the brainstem, ... |
OMIM:618492 |
| Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Brachyturricephaly, Joint contracture of the hand, Genu recurvatum, Camptodactyly, Anteverted nar... |
OMIM:182212 |
| Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Micrognathia, Small for gestational age, Low anterior hairline, Failure to thrive, Osteoporosis, ... |
ORPHA:73272 |
| Desmosterolosis |
|
Cleft palate, Short nose, Patent ductus arteriosus, Splenomegaly, Abnormality of the nose, Polymi... |
ORPHA:35107 |
| Nestor-Guillermo Progeria Syndrome |
|
Sparse eyelashes, Pathologic fracture, Mandibular osteolysis, Sparse and thin eyebrow, Limited el... |
OMIM:614008 |
| Cleidocranial Dysplasia |
|
Sinusitis, Carious teeth, Cleft palate, Dystrophic toenail, Abnormal dental enamel morphology, De... |
ORPHA:1452 |
| Fragile X Syndrome |
|
Sinusitis, Macroorchidism, Folate-dependent fragile site at Xq28, Mandibular prognathia, Frontal ... |
ORPHA:908 |
| Hao-Fountain Syndrome |
|
Large fontanelles, Trigonocephaly, Premature adrenarche, Micropenis, Delayed cranial suture closu... |
OMIM:616863 |
| Fanconi Anemia, Complementation Group C |
|
Neutropenia, Small for gestational age, Hypergonadotropic hypogonadism, Leukemia, Hyperpigmentati... |
OMIM:227645 |
| Leishmaniasis |
|
Hepatomegaly, Abnormal oral cavity morphology, Leukopenia, Elevated hepatic transaminase, Lymphad... |
ORPHA:507 |
| Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity |
|
Pancytopenia, Abnormality of chromosome stability, Microcephaly |
OMIM:600546 |
| Prader-Willi Syndrome |
|
Hypoplastic labia minora, Carious teeth, Adrenal insufficiency, Generalized hypopigmentation, Mic... |
OMIM:176270 |
| Cantu Syndrome |
|
Thick lower lip vermilion, Depressed nasal bridge, Long philtrum, Thick upper lip vermilion, Oste... |
OMIM:239850 |
| Methylcobalamin Deficiency Type Cble |
|
Macrocytic anemia, Neutropenia, Increased mean corpuscular volume, Failure to thrive, Osteoporosi... |
ORPHA:2169 |
| Lethal Osteosclerotic Bone Dysplasia |
|
Depressed nasal ridge, Micrognathia, Large fontanelles, Median cleft lip and palate, Gingival fib... |
ORPHA:1832 |
| Microcephaly 17, Primary, Autosomal Recessive |
|
Microlissencephaly, Failure to thrive, Simplified gyral pattern, Hypoplasia of the brainstem, Bul... |
OMIM:617090 |
| Intellectual Disability-Strabismus Syndrome |
|
Hypospadias, Decreased serum insulin-like growth factor 1, Short nose, Joint contracture of the h... |
ORPHA:363528 |
| Hypogonadotropic Hypogonadism 20 With Or Without Anosmia |
|
Hypogonadism, Osteoporosis, Delayed puberty, Osteopenia |
OMIM:615270 |
| Marden-Walker Syndrome |
|
Hypospadias, Cleft palate, Joint contracture of the hand, Micropenis, Cerebellar hypoplasia, Camp... |
OMIM:248700 |
| Neuropathy, Congenital Hypomyelinating, 3 |
|
Limb joint contracture, Cachexia, Micrognathia, High palate, Gingival overgrowth, Arthrogryposis ... |
OMIM:618186 |
| Cri-Du-Chat Syndrome |
|
Hypospadias, Thick lower lip vermilion, High palate, Short philtrum, Small for gestational age, S... |
OMIM:123450 |
| Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Micrognathia, High palate, Abnormality of the philtrum, Midshaft hypospadias, Wormian bones, Pate... |
ORPHA:2863 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Short nose, Patent ductus arteriosus, Cerebellar hypoplasia, Cerebral atrophy, Anteverted nares, ... |
OMIM:615398 |
| Sim1-Related Prader-Willi-Like Syndrome |
|
Hypoplastic labia minora, Premature adrenarche, Micropenis, Thin upper lip vermilion, Recurrent r... |
ORPHA:398079 |
| Fanconi Anemia, Complementation Group I |
|
Neutropenia, Colpocephaly, Decreased response to growth hormone stimulation test, Optic nerve hyp... |
OMIM:609053 |
| Maxillonasal Dysplasia, Binder Type |
|
Depressed nasal bridge, Short nose, Patchy distortion of vertebrae, Short columella, Vertebral cl... |
OMIM:155050 |
| Pierpont Syndrome |
|
Abnormal cortical gyration, Widely spaced teeth, Smooth philtrum, Small for gestational age, Shor... |
ORPHA:487825 |
| Spondyloenchondrodysplasia |
|
Abnormal periventricular white matter morphology, Pneumonia, Cerebral calcification, Limb undergr... |
ORPHA:1855 |
| Osteopathia Striata With Cranial Sclerosis |
|
Cleft palate, Pierre-Robin sequence, Joint contracture of the hand, Patent ductus arteriosus, Cam... |
OMIM:300373 |
| Microcephalic Primordial Dwarfism, Montreal Type |
|
Carious teeth, Abnormal palate morphology, Micrognathia, Convex nasal ridge, Alopecia of scalp, O... |
ORPHA:2617 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute lymphoblastic leukemia, Neoplasm of the lung, Neutropenia, Hepatocellular carcinoma, Elevat... |
ORPHA:158057 |
| Lissencephaly Syndrome, Norman-Roberts Type |
|
Agenesis of corpus callosum, Microlissencephaly, Wide nose, Wide nasal bridge, Primary microcepha... |
ORPHA:89844 |
| Chromosome 16Q22 Deletion Syndrome |
|
Hypospadias, Highly arched eyebrow, Micrognathia, High palate, Depressed nasal bridge, Small for ... |
OMIM:614541 |
| Porokeratosis 1, Multiple Types |
|
Abnormality of chromosome stability |
OMIM:175800 |
| Stargardt Macular Degeneration, Absent Or Hypoplastic Corpus Callosum, Mental Retardation, And Dysmorphic Facial Features |
|
Broad eyebrow, Smooth philtrum, Broad nasal tip, High palate, Dental crowding, Thin upper lip ver... |
OMIM:612948 |
| Lig4 Syndrome |
|
Prominent nose, Amenorrhea, Failure to thrive, Micropenis, Hypothyroidism, Pancytopenia, Thromboc... |
OMIM:606593 |
| Desbuquois Dysplasia 1 |
|
Smooth philtrum, Genu varum, Short metatarsal, Short nose, Malar flattening, Short 1st metacarpal... |
OMIM:251450 |
| Isolated Glycerol Kinase Deficiency |
|
Osteoporosis, Hyperlordosis, Cryptorchidism, Scoliosis, Adrenocortical hypoplasia |
ORPHA:408 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Hepatomegaly, Micrognathia, Osteopetrosis, Anemia, Decreased osteoclast count, Stillbirth, Spleno... |
OMIM:259720 |
| Gaucher Disease Type 1 |
|
Hepatomegaly, Gingival bleeding, Leukopenia, Biliary tract obstruction, Anemia, Osteopenia, Patho... |
ORPHA:77259 |
| Cockayne Syndrome B |
|
Carious teeth, Abnormal hair morphology, Splenomegaly, Micropenis, Cerebral atrophy, Basal gangli... |
OMIM:133540 |
| Osteogenesis Imperfecta, Type Xiii |
|
Long philtrum, Kyphoscoliosis, Osteoporosis, Long eyelashes, Platyspondyly, Wormian bones, Thin v... |
OMIM:614856 |
| Urban-Rogers-Meyer Syndrome |
|
Micrognathia, Flexion contracture of toe, Abnormality of the philtrum, Osteoporosis, Prominent na... |
ORPHA:3409 |
| Emanuel Syndrome |
|
Cleft palate, Broad jaw, Patent ductus arteriosus, Delayed eruption of teeth, Low hanging columel... |
ORPHA:96170 |
| Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Prominent nasal tip, Micrognathia, Highly arched eyebrow, Short philtrum, Small for gestational a... |
ORPHA:352490 |
| Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Secondary amenorrhea, Cleft palate, Micropenis, Camptodactyly, Breast hypoplasia, Depressed nasal... |
ORPHA:432 |
| Ventriculomegaly And Arthrogryposis |
|
Micrognathia, Arthrogryposis multiplex congenita, Cerebellar hypoplasia, Ulnar deviation of the w... |
OMIM:619501 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Thrombocytopenia, Basal ganglia calcification, Pancytopenia, Abnormal periventricular white matte... |
ORPHA:2785 |
| Apert Syndrome |
|
Brachyturricephaly, Cleft palate, Malar flattening, Delayed eruption of teeth, Delayed cranial su... |
OMIM:101200 |
| Fanconi Anemia, Complementation Group A |
|
Neutropenia, Small for gestational age, Leukemia, Abnormality of skin pigmentation, Anemia, Absen... |
OMIM:227650 |
| Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Cholangitis, Failure to thrive in infancy, Relative macrocephaly, Midface retrusion, Neutropenia ... |
ORPHA:228426 |
| Three M Syndrome 2 |
|
Prominent nasal tip, High palate, Depressed nasal bridge, Small for gestational age, Long philtru... |
OMIM:612921 |
| Marshall-Smith Syndrome |
|
Short nose, Malar flattening, Patent ductus arteriosus, Atlantoaxial dislocation, Cerebral atroph... |
OMIM:602535 |
| Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Hepatomegaly, Megaloblastic anemia, Cerebellar hypoplasia, Cerebral atrophy, Pancytopenia, Thromb... |
OMIM:613839 |
| Potocki-Shaffer syndrome |
|
Delayed cranial suture closure, Parietal foramina, Abnormality of the male genitalia |
DECIPHER:34 |
| Rothmund-Thomson Syndrome Type 2 |
|
Carious teeth, Cleft palate, Neutropenia, Genu varum, Leukemia, Hyperpigmentation of the skin, Ab... |
ORPHA:221016 |
| Xfe Progeroid Syndrome |
|
Cachexia, Convex nasal ridge, Enamel hypoplasia, Elevated hepatic transaminase, Scoliosis, Microc... |
OMIM:610965 |
| Mulibrey Nanism |
|
Hepatomegaly, Cachexia, Macrocephaly, Wide nasal bridge |
ORPHA:2576 |
| Fanconi Anemia, Complementation Group E |
|
Neutropenia, Small for gestational age, Leukemia, Abnormality of skin pigmentation, Anemia, Absen... |
OMIM:600901 |
| Chondroectodermal Dysplasia With Night Blindness |
|
Micrognathia, Abnormal hair morphology, Abnormality of the knee, Fractures of the long bones, Nai... |
ORPHA:319195 |
| Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatomegaly, Hepatitis, Splenomegaly, Pancytopenia, Recurrent respiratory infections, Aplastic a... |
OMIM:300635 |
| 4Q21 Microdeletion Syndrome |
|
Depressed nasal bridge, Short philtrum, Large fontanelles, Small hand, Long eyelashes, Thin vermi... |
ORPHA:238750 |
| Beaulieu-Boycott-Innes Syndrome |
|
Carious teeth, Long nose, Patent ductus arteriosus, Low hanging columella, Dental malocclusion, H... |
OMIM:613680 |
| Aggressive Systemic Mastocytosis |
|
Leukocytosis, Neutropenia, Thrombocytopenia, Leukemia, Lymphadenopathy, Weight loss, Osteoporosis... |
ORPHA:98850 |
| Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Micrognathia, High palate, Knee dislocation, Thin eyebrow, Low posterior hairline, Osteoporosis, ... |
OMIM:618000 |
| Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Sparse pubic hair, Agonadism, Thin upper lip vermilion, Contracture of the proximal interphalange... |
ORPHA:2232 |
| Immunodeficiency 69 |
|
Thrombocytosis, Leukocytosis, Failure to thrive, Anemia, Splenomegaly, Hepatosplenomegaly, Pancyt... |
OMIM:618963 |
| Fetal Gaucher Disease |
|
Abnormality of the spleen, Hepatomegaly, High palate, Depressed nasal bridge, Neonatal death, Art... |
ORPHA:85212 |
| Jaberi-Elahi Syndrome |
|
Sparse eyelashes, Depressed nasal bridge, Failure to thrive, Short nose, Sparse eyebrow, Kyphosis... |
OMIM:617988 |
| Chromosome 3Pter-P25 Deletion Syndrome |
|
Low hanging columella, Anteverted nares, Highly arched eyebrow, Micrognathia, High palate, Depres... |
OMIM:613792 |
| Primary Myelofibrosis |
|
Abnormality of bone marrow cell morphology, Leukocytosis, Hepatomegaly, Thrombocytosis, Cachexia,... |
ORPHA:824 |
| Larsen-Like Syndrome |
|
Cleft palate, Absent nasal bridge, Brachycephaly, Kyphoscoliosis, Malar flattening, Joint disloca... |
OMIM:608545 |
| Cofs Syndrome |
|
Micrognathia, Abnormality of retinal pigmentation, Prominent metopic ridge, Arthrogryposis multip... |
ORPHA:1466 |
| Bowen Syndrome Of Multiple Malformations |
|
Failure to thrive, Micrognathia, Agenesis of corpus callosum, Hypospadias |
OMIM:211200 |
| Premature Ovarian Failure 2B |
|
Osteoporosis, Primary amenorrhea, Premature ovarian insufficiency, Abnormality of the dentition, ... |
OMIM:300604 |
| Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Flat occiput, Dandy-Walker malformation, Bicoronal synostosis, Low anterior hairline, Brachycepha... |
OMIM:618736 |
| Mu-Heavy Chain Disease |
|
Abnormality of bone marrow cell morphology, Hepatomegaly, Abnormal B cell count, Lymphadenopathy,... |
ORPHA:100024 |
| Microcephaly 5, Primary, Autosomal Recessive |
|
Highly arched eyebrow, Small cerebral cortex, Simplified gyral pattern, Cerebellar hypoplasia, Hy... |
OMIM:608716 |
| Rothmund-Thomson Syndrome |
|
Carious teeth, Sparse eyelashes, Neutropenia, Leukemia, Aplasia/Hypoplasia of the radius, Abnorma... |
ORPHA:2909 |
| Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Hypospadias, Short nose, Malar flattening, Patent ductus arteriosus, Micropenis, Turricephaly, Ce... |
ORPHA:171839 |
| Alpha-Mannosidosis, Infantile Form |
|
Subcortical cerebral atrophy, Hepatosplenomegaly, Abnormality of the sphenoid sinus, Pancytopenia... |
ORPHA:309282 |
| Amegakaryocytic Thrombocytopenia, Congenital |
|
Amegakaryocytic thrombocytopenia, Cerebellar vermis hypoplasia, Megakaryocytopenia, Pancytopenia,... |
OMIM:604498 |
| Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Cachexia, Weight loss, Hypogonadotropic hypogonadism, Anemia, Leukoencephalopathy, Abnormal cereb... |
ORPHA:298 |
| Fanconi Anemia, Complementation Group F |
|
Leukopenia, Pneumonia, Failure to thrive, Decreased response to growth hormone stimulation test, ... |
OMIM:603467 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, 35 |
|
Hypospadias, Smooth philtrum, Dorsal hirsutism, Cerebellar hypoplasia, Thin upper lip vermilion, ... |
OMIM:300998 |
| Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Hypospadias, Smooth philtrum, Thrombocytopenia, Patent ductus arteriosus, Bulbous nose, Thin uppe... |
ORPHA:487796 |
| Cerebellofaciodental Syndrome |
|
Macrodontia of permanent maxillary central incisor, Fine hair, Hypoplasia of the pons, Taurodonti... |
OMIM:616202 |
| Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies |
|
Micrognathia, Pectus excavatum, High palate, Failure to thrive, Kyphoscoliosis, Supernumerary too... |
OMIM:264475 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hepatomegaly, Neutropenia, Monocytosis, Leukemia, Splenomegaly, Autoimmune thrombocytopenia, Lymp... |
OMIM:614470 |
| Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone |
|
Hypoglycemia |
OMIM:223500 |
| Neonatal Lupus Erythematosus |
|
Hepatomegaly, Neutropenia, Elevated hepatic transaminase, Anemia, Splenomegaly, Abnormality of th... |
ORPHA:398124 |
| Warburg Micro Syndrome 3 |
|
Hypoplastic labia minora, Micrognathia, Hypertrichosis, Low anterior hairline, Brachycephaly, Kyp... |
OMIM:614222 |
| Ataxia-Telangiectasia |
|
Multiple cafe-au-lait spots, Type II diabetes mellitus, Abnormality of chromosome stability, Fail... |
ORPHA:100 |
| Pseudohypoparathyroidism, Type Ia |
|
Elevated circulating parathyroid hormone level, Choroid plexus calcification, Thickened calvaria,... |
OMIM:103580 |
| Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities |
|
Plagiocephaly, Pectus excavatum, Cleft palate, High palate, Abnormal globus pallidus morphology, ... |
OMIM:618603 |
| Hemochromatosis, Type 1 |
|
Testicular atrophy, Hepatomegaly, Hepatocellular carcinoma, Azoospermia, Amenorrhea, Hypogonadotr... |
OMIM:235200 |
| Momo Syndrome |
|
Thick lower lip vermilion, Smooth philtrum, High palate, Brachycephaly, Long philtrum, Congenital... |
ORPHA:2563 |
| Lissencephaly 3 |
|
Lissencephaly, Pachygyria, Hypoplasia of the brainstem, Cerebellar vermis hypoplasia, Polymicrogy... |
OMIM:611603 |
| Rubinstein-Taybi Syndrome 1 |
|
Hypospadias, Hirsutism, Leukemia, Patent ductus arteriosus, Abnormality of the nasal septum, Low ... |
OMIM:180849 |
| Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
Micrognathia, High palate, Depressed nasal bridge, Short philtrum, Brachycephaly, Hypogonadotropi... |
ORPHA:1387 |
| Turnpenny-Fry Syndrome |
|
Malar flattening, Patent ductus arteriosus, Thin upper lip vermilion, Recurrent respiratory infec... |
OMIM:618371 |
| Lessel-Kreienkamp Syndrome |
|
Plagiocephaly, Wide nasal bridge, Patent ductus arteriosus, Frontal bossing, Wide cranial sutures... |
OMIM:619149 |
| Rothmund-Thomson Syndrome Type 1 |
|
Carious teeth, Genu varum, Neutropenia, Leukemia, Hyperpigmentation of the skin, Abnormal dental ... |
ORPHA:221008 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatomegaly, Neutropenia, Lymphadenopathy, Fulminant hepatitis, Splenomegaly, Lymphocytosis, Rec... |
OMIM:308240 |
| Rothmund-Thomson Syndrome, Type 2 |
|
Sparse eyelashes, Short nose, Delayed eruption of teeth, Sparse hair, Premature graying of hair, ... |
OMIM:268400 |
| Frank-Ter Haar Syndrome |
|
Thin upper lip vermilion, Camptodactyly, Anteverted nares, Delayed cranial suture closure, Broad ... |
OMIM:249420 |
| Borjeson-Forssman-Lehmann Syndrome |
|
Hypoplasia of the prostate, Thickened calvaria, Shortening of all distal phalanges of the fingers... |
OMIM:301900 |
| Fanconi Anemia, Complementation Group Q |
|
Chromosome breakage |
OMIM:615272 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 1 |
|
Lissencephaly, Hypoplasia of the brainstem, Polymicrogyria, Hypoplasia of the corpus callosum, Co... |
OMIM:614039 |
| Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Fine hair, Underdeveloped nasal alae, Depressed nasal bridge, Brachycephaly, Agenesis of cerebell... |
ORPHA:228390 |
| Bohring-Opitz Syndrome |
|
Cleft palate, Hirsutism, Short toe, Camptodactyly, Broad alveolar ridges, Supernumerary nipple, M... |
OMIM:605039 |
| Craniofrontonasal Dysplasia |
|
Hypospadias, Congenital pseudoarthrosis of the clavicle, Camptodactyly of finger, Woolly hair, Lo... |
ORPHA:1520 |
| Chromosome 5P13 Duplication Syndrome |
|
High palate, Short philtrum, Small for gestational age, Brachycephaly, Craniosynostosis, Wide nas... |
OMIM:613174 |
| Craniosynostosis 6 |
|
Plagiocephaly, Dandy-Walker malformation, Low anterior hairline, Brachycephaly, Craniosynostosis,... |
OMIM:616602 |
| Corpus Callosum Agenesis-Abnormal Genitalia Syndrome |
|
Hypospadias, Abnormal hair pattern, Microcephaly, Generalized hirsutism, Scoliosis, Agenesis of c... |
ORPHA:2508 |
| Mental Retardation, Autosomal Dominant 26 |
|
Prominent nasal tip, Highly arched eyebrow, Wide mouth, Small for gestational age, Brachycephaly,... |
OMIM:615834 |
| Dyskeratosis Congenita |
|
Carious teeth, Abnormal morphology of female internal genitalia, Palmoplantar keratoderma, Spleno... |
ORPHA:1775 |
| Proteus Syndrome |
|
Carious teeth, Ovarian neoplasm, Thymus hyperplasia, Sirenomelia, Generalized hyperpigmentation, ... |
ORPHA:744 |
| Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Pancytopenia, Hypersplenism, Decreased helper T cell proportion, Splenomegaly |
OMIM:183350 |
| Prader-Willi-Like Syndrome |
|
Hypoplastic labia minora, Premature adrenarche, Decreased inhibin B level, Anterior pituitary hyp... |
ORPHA:398073 |
| Premature Aging Syndrome, Penttinen Type |
|
Micrognathia, Narrow nose, Midface retrusion, Thin vermilion border, Wormian bones, Delayed erupt... |
OMIM:601812 |
| Phelan-Mcdermid Syndrome |
|
Hypoplastic toenails, Widely spaced teeth, Micrognathia, High palate, Abnormal periventricular wh... |
OMIM:606232 |
| Dyskeratosis Congenita, X-Linked |
|
Hypospadias, Carious teeth, Sparse eyelashes, Hyperpigmentation of the skin, Cerebellar hypoplasi... |
OMIM:305000 |
| Ataxia-Pancytopenia Syndrome |
|
Hypoplastic anemia, Neutropenia, Acute myelomonocytic leukemia, Anemia, Ankle clonus, Abnormal ce... |
OMIM:159550 |
| Prader-Willi Habitus, Osteopenia, And Camptodactyly |
|
Osteoporosis, Joint contracture of the hand, Osteopenia, Camptodactyly, Obesity |
OMIM:264010 |
| Glycogen Storage Disease Ixa1 |
|
Hepatomegaly, Hypoglycemia |
OMIM:306000 |
| Prader-Willi Syndrome |
|
Hypoplastic labia minora, Premature adrenarche, Decreased response to growth hormone stimulation ... |
ORPHA:739 |
| Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Osteoporosis, Platyspondyly, Hypopigmentation of the skin, Kyphosis, Albinism, Hypopigmentation o... |
ORPHA:2786 |
| Gaucher Disease, Type Iii |
|
Hepatomegaly, Splenomegaly, Pancytopenia, Thrombocytopenia, Decreased body weight |
OMIM:231000 |
| Martin-Probst Syndrome |
|
Thick lower lip vermilion, Micrognathia, Bifid scrotum, Hypoplastic nipples, Wide mouth, Chordee,... |
OMIM:300519 |
| Cockayne Syndrome A |
|
Carious teeth, Thymic hormone decreased, Retinal pigment epithelial mottling, Splenomegaly, Micro... |
OMIM:216400 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Pectus excavatum, High palate, Short 5th metacarpal, Pierre-Robin sequence, Long philtrum, Short ... |
OMIM:617877 |
| Dominant Beta-Thalassemia |
|
Adrenal insufficiency, Hyperpigmentation of the skin, Splenomegaly, Hypersplenism, Hepatosplenome... |
ORPHA:231226 |
| Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, And Cerebellar Atrophy |
|
Osteoporosis, Contractures of the large joints, Microcephaly, Cortical dysplasia |
OMIM:608278 |
| Fanconi Anemia, Complementation Group D1 |
|
T-cell acute lymphoblastic leukemias, Failure to thrive, Bone marrow hypocellularity, Acute myelo... |
OMIM:605724 |
| Diencephalic Syndrome |
|
Cachexia, Long penis, Abnormality of the hypothalamus-pituitary axis, Everted lower lip vermilion... |
ORPHA:1672 |
| Fructose And Galactose Intolerance |
|
Hypoglycemia |
OMIM:229500 |
| Spondyloepiphyseal Dysplasia, Nishimura Type |
|
Cleft palate, Anterior plagiocephaly, Short nose, Abnormality of cranial sutures, Anisospondyly, ... |
ORPHA:163649 |
| Shwachman-Diamond Syndrome |
|
Carious teeth, Sinusitis, Neutropenia, Pancreatic hypoplasia, Leukemia, Delayed eruption of teeth... |
ORPHA:811 |
| Ring Chromosome 10 Syndrome |
|
Cachexia, Micrognathia, Pectus excavatum, Long philtrum, Thin vermilion border, Wide nasal bridge... |
ORPHA:1438 |
| Magel2-Related Prader-Willi-Like Syndrome |
|
Hypoplastic labia minora, Micropenis, Thin upper lip vermilion, Recurrent respiratory infections,... |
ORPHA:398069 |
| Aminopterin Syndrome Sine Aminopterin |
|
Highly arched eyebrow, Micrognathia, Cleft palate, High palate, Megalencephaly, Oligodontia, Brac... |
OMIM:600325 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Hypospadias, Cleft palate, Smooth philtrum, Thrombocytopenia, Pierre-Robin sequence, Thin upper l... |
OMIM:611209 |
| Warburg Micro Syndrome 4 |
|
Perisylvian polymicrogyria, Hirsutism, Low anterior hairline, Brachycephaly, Long philtrum, Promi... |
OMIM:615663 |
| Ck Syndrome |
|
Micrognathia, High palate, Slender build, Malar flattening, Abnormal cortical bone morphology, Pr... |
OMIM:300831 |
| Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Hepatomegaly, Micrognathia, Convex nasal ridge, Osteoporosis, Kyphosis, Hypogonadism, Hepatic ste... |
OMIM:615381 |
| Fanconi Anemia, Complementation Group P |
|
Micrognathia, Anemia, Vitiligo, Hypoplasia of the radius, Short thumb, Bulbous nose, Absent thumb... |
OMIM:613951 |
| Multicentric Reticulohistiocytosis |
|
Cachexia, Arthritis, Histiocytosis |
ORPHA:139436 |
| Holoprosencephaly, Recurrent Infections, And Monocytosis |
|
Monocytosis, Failure to thrive, Short finger, Brachycephaly, Micropenis, Short toe, Cryptorchidis... |
OMIM:610680 |
| Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Hypoplastic labia minora, Premature adrenarche, Decreased response to growth hormone stimulation ... |
ORPHA:98754 |
| Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Cachexia, Spinal rigidity, Hyperlordosis, Limitation of joint mobility, Flexion contracture, Join... |
ORPHA:157973 |
| Usmani-Riazuddin Syndrome, Autosomal Recessive |
|
Pectus excavatum, High palate, Joint laxity, Agenesis of corpus callosum, Lumbar scoliosis |
OMIM:619548 |
| 19P13.3 Microduplication Syndrome |
|
Underdeveloped nasal alae, Micrognathia, Unilateral cryptorchidism, Prominent nose, Cleft palate,... |
ORPHA:447980 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Hypoplastic labia minora, Premature adrenarche, Decreased response to growth hormone stimulation ... |
ORPHA:177901 |
| Congenital Bile Acid Synthesis Defect Type 1 |
|
Hepatomegaly, Failure to thrive, Osteoporosis, Splenomegaly, Cirrhosis, Neonatal cholestatic live... |
ORPHA:79301 |
| Desmosterolosis |
|
Cleft palate, Short nose, Ambiguous genitalia, female, Joint contracture of the hand, Patent duct... |
OMIM:602398 |
| Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Hepatosplenomegaly, Pancytopenia, Recurrent respiratory infections, Portal hypertension, Jaundice... |
ORPHA:79124 |
| Glycerol Kinase Deficiency |
|
Adrenal insufficiency, Small for gestational age, Osteoporosis, Pathologic fracture, Frontal boss... |
OMIM:307030 |
| Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Hypoplastic labia minora, Premature adrenarche, Decreased response to growth hormone stimulation ... |
ORPHA:98793 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Lymphadenopathy, Splenomegaly, Type I diabetes mellitus, Pancytopenia, Recurrent respiratory infe... |
OMIM:614700 |
| Recombinant Chromosome 8 Syndrome |
|
Thick lower lip vermilion, Cerebral atrophy, Micrognathia, Pectus excavatum, Depressed nasal brid... |
OMIM:179613 |
| Fanconi Anemia, Complementation Group B |
|
Abnormality of chromosome stability, Abnormal vertebral morphology, Abnormal lung lobation, Bilat... |
OMIM:300514 |
| Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
C1-C2 subluxation, Hirsutism, Hip contracture, Delayed eruption of teeth, Bulbous nose, Protrusio... |
OMIM:259600 |
| Lissencephaly, X-Linked, 1 |
|
Pachygyria, Micropenis, Agyria, Lissencephaly, Agenesis of corpus callosum |
OMIM:300067 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Hypoplastic labia minora, Premature adrenarche, Decreased response to growth hormone stimulation ... |
ORPHA:177904 |
| Symptomatic Form Of Hemochromatosis Type 1 |
|
Cholangiocarcinoma, Hyperpigmentation of the skin, Splenomegaly, Diabetes mellitus, Stiff interph... |
ORPHA:465508 |
| Lissencephaly 4 |
|
Simplified gyral pattern, Cerebellar hypoplasia, Lissencephaly, Agenesis of corpus callosum, Micr... |
OMIM:614019 |
| Beta-Thalassemia Major |
|
Adrenal insufficiency, Anisopoikilocytosis, Hyperpigmentation of the skin, Splenomegaly, Hyperspl... |
ORPHA:231214 |
| Riboflavin Transporter Deficiency |
|
Cachexia, Diabetes insipidus, Hypogonadism, Iris hypopigmentation, Cerebral cortical atrophy |
ORPHA:97229 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Carious teeth, Premature loss of teeth, Sparse hair, Interstitial pneumonitis, Ridged nail, Retic... |
OMIM:127550 |
| Cleft Palate, Isolated |
|
Micrognathia, Cleft palate, Gingival overgrowth, Increased overbite, Anterior open-bite malocclusion |
OMIM:119540 |
| Familial Hyperprolactinemia |
|
Menorrhagia, Hemorrhagic ovarian cyst, Infertility, Oligomenorrhea, Amenorrhea, Osteoporosis, Ost... |
ORPHA:397685 |
| Fanconi Anemia, Complementation Group L |
|
Chromosome breakage, Cleft palate, Depressed nasal bridge, Abnormality of chromosome stability, A... |
OMIM:614083 |
| Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Hypospadias, Micrognathia, Smooth philtrum, Depressed nasal bridge, Low anterior hairline, Brachy... |
OMIM:615761 |
| Macs Syndrome |
|
Thick lower lip vermilion, Irregular dentition, High palate, Eclabion, Urethral stenosis, Bronchi... |
OMIM:613075 |
| Potocki-Shaffer Syndrome |
|
Underdeveloped nasal alae, Micrognathia, Broad nasal tip, Short philtrum, Brachycephaly, Anemia, ... |
ORPHA:52022 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
|
Cleft palate, Smooth philtrum, Bulbous nose, Anteverted nares, Osteoporosis, Sparse eyebrow, Shor... |
OMIM:309583 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Cleft palate, Vertebral segmentation defect, Tooth agenesis, Supernumerary nipple, Underdeveloped... |
ORPHA:453504 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Hypospadias, Cleft palate, Short nose, Multiple prenatal fractures, Short ribs, Micropenis, Cereb... |
OMIM:616897 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Cleft palate, Vertebral segmentation defect, Tooth agenesis, Supernumerary nipple, Underdeveloped... |
ORPHA:352665 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Prominent nose, Abnormality of the hairline, Cranial asymmetry, Abnormality of the male genitalia... |
OMIM:614886 |
| Craniofacial Dyssynostosis With Short Stature |
|
Hypospadias, Brachyturricephaly, Abnormal shape of the occiput, Brachycephaly, Malar flattening, ... |
OMIM:218350 |
| Immunodeficiency 16 |
|
Coombs-positive hemolytic anemia, Pancytopenia, Splenomegaly |
OMIM:615593 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Micrognathia, Arthrogryposis multiplex congenita, Congenital hip dislocation, Kyphosis, Macroceph... |
OMIM:618291 |
| Primary Condylar Hyperplasia |
|
Anterior open-bite malocclusion, Abnormality of the temporomandibular joint, Abnormal mandible co... |
ORPHA:477781 |
| X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Depressed nasal bridge, Hirsutism, Small for gestational age, Increased serum serotonin, Congenit... |
ORPHA:85288 |
| Winchester Syndrome |
|
Osteolysis involving bones of the feet, Osteolysis involving bones of the upper limbs, Gingival o... |
OMIM:277950 |
| Transcobalamin Deficiency |
|
Neutropenia, Abnormality of chromosome stability, Lymphopenia, Pancytopenia, Thrombocytopenia, Me... |
ORPHA:859 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 2 |
|
Pancytopenia, Leukemia, Bone marrow hypocellularity, Cirrhosis, Pulmonary fibrosis, Myeloid leuke... |
OMIM:614743 |
| Wolf-Hirschhorn Syndrome |
|
Abnormality of the vertebral column, Hypospadias, Cleft palate, Abnormal form of the vertebral bo... |
ORPHA:280 |
| Acromelic Frontonasal Dysostosis |
|
Broad nasal tip, Cleft palate, U-Shaped upper lip vermilion, Brachycephaly, Cleft upper lip, Wide... |
OMIM:603671 |
| Clark-Baraitser syndrome |
|
Thick lower lip vermilion, Macroorchidism, Broad nasal tip, Exaggerated median tongue furrow, Max... |
OMIM:300602 |
| Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome |
|
Widely spaced teeth, Malar flattening, Mottled pigmentation, Dental malocclusion |
OMIM:616108 |
| Intellectual Developmental Disorder, Autosomal Dominant 65 |
|
Micrognathia, Dysgenesis of the hippocampus, Thin eyebrow, Short philtrum, Long philtrum, Thick u... |
OMIM:619320 |
| Griscelli Syndrome Type 2 |
|
Hepatomegaly, Partial albinism, Neutropenia, Lymphadenopathy, Splenomegaly, Iris hypopigmentation... |
ORPHA:79477 |
| Frontometaphyseal Dysplasia 1 |
|
Increased density of long bone diaphyses, Ankle flexion contracture, High palate, Hirsutism, Part... |
OMIM:305620 |
| Partial Trisomy/Tetrasomy Of The Short Arm Of Chromosome 9 |
|
Dandy-Walker malformation, Aplasia/Hypoplasia of the nails, Downturned corners of mouth, Bulbous ... |
ORPHA:262767 |
| Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Weight loss, Cachexia, Slender build, Abnormal cerebral white matter morphology |
OMIM:613662 |
| Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Cachexia, Micrognathia, Wrist swelling, Metacarpal osteolysis, Wide nasal bridge, Abnormality of ... |
ORPHA:2774 |
| Hypogonadotropic Hypogonadism 19 With Or Without Anosmia |
|
Abnormality of the dentition, Osteoporosis, Osteopenia |
OMIM:615269 |
| Short Syndrome |
|
Underdeveloped nasal alae, Micrognathia, Hypodontia, Small for gestational age, Insulin-resistant... |
OMIM:269880 |
| Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Thrombocytopenia, Rhizomelia, Agenesis of corpus callosum |
OMIM:166990 |
| Osteogenesis Imperfecta |
|
Carious teeth, Abnormal form of the vertebral bodies, Abnormal dental enamel morphology, Delayed ... |
ORPHA:666 |
| Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Carious teeth, Sparse eyelashes, Small nail, Hepatic fibrosis, Microdontia, Pterygium, Hyperpigme... |
OMIM:224230 |
| Autoinflammation With Infantile Enterocolitis |
|
Failure to thrive, Anemia, Splenomegaly, Reduced natural killer cell count, Pancytopenia, Thrombo... |
OMIM:616050 |
| Odontochondrodysplasia 1 |
|
Flat acetabular roof, Genu varum, Coronal cleft vertebrae, Long philtrum, Osteoporosis, Biconvex ... |
OMIM:184260 |
| Fryns-Smeets-Thiry Syndrome |
|
Thick lower lip vermilion, Cachexia, Micrognathia, Patellar aplasia, Short philtrum, Wide mouth, ... |
ORPHA:2058 |
| Propionic Acidemia |
|
Hepatomegaly, Neutropenia, Failure to thrive, Osteoporosis, Anemia, Pancreatitis, Cerebral atroph... |
OMIM:606054 |
| Coffin-Lowry Syndrome |
|
Abnormal hair morphology, Lumbar kyphosis, Hyperconvex fingernails, Anteverted nares, Decreased b... |
OMIM:303600 |
| Infantile Osteopetrosis With Neuroaxonal Dysplasia |
|
Partial agenesis of the corpus callosum, Pneumonia, Hypoplastic hippocampus, Cerebral atrophy, In... |
ORPHA:85179 |
| Chromosome 3Q13.31 Deletion Syndrome |
|
Plagiocephaly, High, narrow palate, High palate, Short philtrum, Brachycephaly, Micropenis, Dolic... |
OMIM:615433 |
| Zimmermann-Laband Syndrome 3 |
|
Patent ductus arteriosus, Absent distal phalanx of the 2nd toe, High palate, Absent toenail, Faci... |
OMIM:618658 |
| Adenylosuccinate Lyase Deficiency |
|
Flat occiput, Hypointensity of cerebral white matter on MRI, Smooth philtrum, Brachycephaly, Long... |
ORPHA:46 |
| Momo Syndrome |
|
Thick lower lip vermilion, Smooth philtrum, High palate, Brachycephaly, Long philtrum, Hyperconve... |
OMIM:157980 |
| Lymphoproliferative Syndrome 2 |
|
Hepatomegaly, Lymphadenopathy, Splenomegaly, Hepatosplenomegaly, Recurrent pneumonia, Oral ulcer,... |
OMIM:615122 |
| Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Increased hepatic glycogen content, Hepatocellul... |
ORPHA:369 |
| Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Cerebral atrophy, Micrognathia, High palate, Neonatal death, Arthrogryposis multiplex congenita, ... |
OMIM:611890 |
| 46,Xx Gonadal Dysgenesis |
|
Abnormality of secondary sexual hair, Secondary amenorrhea, Aplasia/hypoplasia of the uterus, Str... |
ORPHA:243 |
| Pseudohypoparathyroidism, Type Ic |
|
Elevated circulating parathyroid hormone level, Choroid plexus calcification, Depressed nasal bri... |
OMIM:612462 |
| Menkes Disease |
|
Brachycephaly, Osteoporosis, Wormian bones, Hypopigmentation of the skin, Sparse hair, Microcepha... |
OMIM:309400 |
| Pseudopseudohypoparathyroidism |
|
Depressed nasal bridge, Short metatarsal, Osteoporosis, Delayed eruption of teeth, Enamel hypopla... |
OMIM:612463 |
| Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
High palate, Low anterior hairline, Brachycephaly, Short nose, Wide nasal bridge, Respiratory tra... |
OMIM:218000 |
| Sialidosis Type 2 |
|
Abnormality of bone marrow cell morphology, Hepatomegaly, Osteoporosis, Kyphosis, Splenomegaly, F... |
ORPHA:87876 |
| Craniofrontonasal Syndrome |
|
Hypospadias, Cleft palate, Congenital pseudoarthrosis of the clavicle, Fragile nails, Low posteri... |
OMIM:304110 |
| Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Sterile arthritis, Thrombocytosis, Arthritis, Knee flexion contracture, Hepatosplenomegaly, Micro... |
OMIM:604416 |
| Even-Plus Syndrome |
|
Depressed nasal ridge, Highly arched eyebrow, Hypodontia, Dysplastic corpus callosum, Coronal cle... |
OMIM:616854 |
| Trisomy 18 |
|
Cachexia, Abnormality of retinal pigmentation, Cleft palate, Anencephaly, Abnormal morphology of ... |
ORPHA:3380 |
| Spastic Paraplegia 18, Autosomal Recessive |
|
High palate, Hypoplasia of the corpus callosum, Scoliosis, Kyphosis |
OMIM:611225 |
| Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Low hanging columella, Bulbous nose, Thin corpus callosum, Cerebellar hypoplasia, Plagiocephaly, ... |
OMIM:619512 |
| Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities |
|
Perisylvian polymicrogyria, Short philtrum, Long philtrum, Small hand, Prominent nasal bridge, Ky... |
OMIM:618443 |
| Atkin-Flaitz Syndrome |
|
Thick lower lip vermilion, Macroorchidism, Broad nasal tip, Exaggerated median tongue furrow, Max... |
OMIM:300431 |
| Lissencephaly 7 With Cerebellar Hypoplasia |
|
Micrognathia, Hirsutism, Arthrogryposis multiplex congenita, Agyria, Cerebellar hypoplasia, Short... |
OMIM:616342 |
| Developmental And Epileptic Encephalopathy 88 |
|
Partial agenesis of the corpus callosum, Depressed nasal bridge, Hypoplasia of the pons, Inferior... |
OMIM:618959 |
| Kleefstra Syndrome |
|
Hypospadias, Short nose, Malar flattening, Delayed eruption of teeth, Micropenis, Pulmonary arter... |
ORPHA:261494 |
| Acute Promyelocytic Leukemia |
|
Leukocytosis, Neutropenia, Gingival bleeding, Leukopenia, Stomatitis, Lymphadenopathy, Weight los... |
ORPHA:520 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Rickets, Slender build, Reduced bone mineral density, Cerebral atrophy, Pancytopenia, Portal hype... |
OMIM:613658 |
| Frontonasal Dysplasia 1 |
|
Broad nasal tip, Hypoplastic frontal sinuses, Median cleft lip, Short columella, Joint contractur... |
OMIM:136760 |
| Gm1 Gangliosidosis |
|
Hirsutism, Abnormal form of the vertebral bodies, Encephalomalacia, Patent ductus arteriosus, Spl... |
ORPHA:354 |
| Schwartz-Jampel Syndrome, Type 1 |
|
Long eyelashes in irregular rows, Micrognathia, Shoulder flexion contracture, Hip contracture, Fl... |
OMIM:255800 |
| Pancytopenia And Occlusive Vascular Disease |
|
Pancytopenia, Thrombocytopenia, Anemia, Leukopenia |
OMIM:167850 |
| Mosaic Variegated Aneuploidy Syndrome 1 |
|
Hypospadias, Cleft palate, Bifid scrotum, Leukemia, Short nose, Malar flattening, Micropenis, Cer... |
OMIM:257300 |
| Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Polymicrogyria, Agenesis of corpus callosum, Cerebellar hypoplasia, Primary microcephaly |
ORPHA:171703 |
| Coffin-Siris Syndrome |
|
Hypospadias, Hirsutism, Prominent eyelashes, Hypoplastic fifth fingernail, Papillary thyroid carc... |
ORPHA:1465 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia1 |
|
Carious teeth, Anterior open-bite malocclusion, Abnormal dental enamel morphology, Amelogenesis i... |
OMIM:204700 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Hypospadias, Micropenis, Bulbous nose, Polymicrogyria, Depressed nasal bridge, Kyphosis, Relative... |
OMIM:300354 |
| Desmoplastic Small Round Cell Tumor |
|
Hepatomegaly, Cachexia, Ovarian neoplasm, Mediastinal lymphadenopathy, Neoplasm of the lung, Lymp... |
ORPHA:83469 |
| Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Hypospadias, Patent ductus arteriosus, Low hanging columella, Polymicrogyria, Diabetes mellitus, ... |
ORPHA:500159 |
| Kabuki Syndrome 2 |
|
Highly arched eyebrow, Micrognathia, Broad nasal tip, Hirsutism, Cleft palate, High palate, Hypod... |
OMIM:300867 |
| Tbck-Related Intellectual Disability Syndrome |
|
Hirsutism, Global brain atrophy, 11 pairs of ribs, Bulbous nose, Abnormal periventricular white m... |
ORPHA:488632 |
| Masa Syndrome |
|
Kyphosis, Macrocephaly, Hyperlordosis, Agenesis of corpus callosum, Microcephaly |
OMIM:303350 |
| Myopathy, Myofibrillar, 8 |
|
Micrognathia, Pectus excavatum, High palate, Impaired mastication, Achilles tendon contracture, R... |
OMIM:617258 |
| Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Hypospadias, Micrognathia, Cleft palate, Depressed nasal bridge, Pierre-Robin sequence, Short nos... |
OMIM:217980 |
| Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Mandibular prognathia, Kyphosis, Short distal phalanx of finger, Dental malocclusion, Abnormality... |
ORPHA:1858 |
| Classic Galactosemia |
|
Decreased fertility in females, Hepatomegaly, Secondary amenorrhea, Oligomenorrhea, Decreased ser... |
ORPHA:79239 |
| Baraitser-Winter Syndrome 2 |
|
Highly arched eyebrow, Wide mouth, Long philtrum, Trigonocephaly, Secondary microcephaly, Pachygy... |
OMIM:614583 |
| 8P Inverted Duplication/Deletion Syndrome |
|
Micropenis, Cerebellar hypoplasia, Anteverted nares, Micrognathia, Frontal balding, Long philtrum... |
ORPHA:96092 |
| Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Flat occiput, Pectus excavatum, Large fontanelles, Brachycephaly, Mandibular prognathia, Malar fl... |
ORPHA:2511 |
| Nijmegen Breakage Syndrome |
|
Cleft palate, Abnormal hair morphology, Recurrent sinopulmonary infections, Recurrent respiratory... |
ORPHA:647 |
| Hypergonadotropic Hypogonadism-Cataract Syndrome |
|
Osteoporosis, Secondary growth hormone deficiency, Absence of secondary sex characteristics, Redu... |
ORPHA:2410 |
| Werner Syndrome |
|
Ovarian neoplasm, Secondary amenorrhea, Thyroid carcinoma, Slender build, White forelock, Increas... |
ORPHA:902 |
| Lateral Meningocele Syndrome |
|
Smooth philtrum, Malar flattening, Patent ductus arteriosus, Umbilical hernia, Meningocele, Micro... |
OMIM:130720 |
| Genitopatellar Syndrome |
|
Fine hair, Prominent nose, Micrognathia, Patellar aplasia, Hip contracture, Long philtrum, Small ... |
ORPHA:85201 |
| Sub-Cortical Nodular Heterotopia |
|
Abnormal cerebral cortex morphology, Polymicrogyria, Abnormality of the basal ganglia, Hypoplasia... |
ORPHA:101029 |
| Auriculocondylar Syndrome 1 |
|
Mandibular condyle aplasia, Ankylosis, Micrognathia, Cleft palate, Impaired mastication, Glossopt... |
OMIM:602483 |
| Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome |
|
Underdeveloped nasal alae, Micrognathia, Diastema, Malar flattening, Broad columella, Dental malo... |
ORPHA:436245 |
| Potocki-Shaffer Syndrome |
|
