| Microcephaly 24, Primary, Autosomal Recessive |
|
Clinodactyly of the 5th finger, Cerebellar vermis hypoplasia, Primary microcephaly |
OMIM:618179 |
| Spinal Muscular Atrophy With Mental Retardation |
|
Syndactyly, Microcephaly |
OMIM:271109 |
| Syndactyly Type 1 |
|
Finger syndactyly, Toe syndactyly, Symphalangism affecting the phalanges of the hand |
ORPHA:93402 |
| Hypogonadism With Low-Grade Mental Deficiency And Microcephaly |
|
2-4 toe syndactyly, Syndactyly, Microcephaly |
OMIM:241000 |
| Syndactyly, Type Iii |
|
Absent middle phalanx of 5th finger, Syndactyly, 4-5 finger syndactyly, Short 5th finger |
OMIM:186100 |
| Brachmann-De Lange-Like Facial Changes With Microcephaly, Metatarsus Adductus, And Developmental Delay |
|
Metatarsus adductus, Unusual dermatoglyphics, Microcephaly |
OMIM:112370 |
| Teratocarcinoma-Derived growth factor 1 |
|
Absent septum pellucidum, Hypoplasia of the corpus callosum, Microcephaly |
OMIM:187395 |
| Polydactyly, Preaxial Ii |
|
Syndactyly, Duplication of thumb phalanx, Opposable triphalangeal thumb, Preaxial hand polydactyl... |
OMIM:174500 |
| Hallux Varus And Preaxial Polysyndactyly |
|
Preaxial hand polydactyly, Syndactyly, Broad hallux, Hallux varus |
OMIM:234280 |
| Polydactyly, Postaxial, Type A1 |
|
Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Tr... |
OMIM:174200 |
| Synpolydactyly 1 |
|
2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac... |
OMIM:186000 |
| Triphalangeal Thumb With Polysyndactyly |
|
Finger syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Triphalangeal thumb, Br... |
OMIM:190605 |
| Microcephaly 28, Primary, Autosomal Recessive |
|
Microcephaly |
OMIM:619453 |
| Cri du Chat Syndrome (5p deletion) |
|
Microcephaly |
DECIPHER:2 |
| Intellectual Developmental Disorder, Autosomal Recessive 51 |
|
Microcephaly |
OMIM:616739 |
| 1q21.1 recurrent microdeletion (susceptibility locus for neurodevelopmental disorders) |
|
Microcephaly |
DECIPHER:62 |
| Intellectual Developmental Disorder, Autosomal Recessive 28 |
|
Microcephaly |
OMIM:614347 |
| Intellectual Developmental Disorder, Autosomal Recessive 7 |
|
Microcephaly |
OMIM:611093 |
| Microcephaly 18, Primary, Autosomal Dominant |
|
Microcephaly |
OMIM:617520 |
| Recurrent 16p12.1 microdeletion (neurodevelopmental susceptibility locus) |
|
Microcephaly |
DECIPHER:92 |
| Syndactyly Type 2 |
|
Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff... |
ORPHA:93403 |
| Polydactyly, Postaxial, Type A5 |
|
Syndactyly, Postaxial hand polydactyly, Cutaneous finger syndactyly, Metacarpal synostosis |
OMIM:263450 |
| Syndactyly, Type Iv |
|
1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me... |
OMIM:186200 |
| Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
| Syndactyly Type 3 |
|
Finger syndactyly, Short toe, Camptodactyly of finger |
ORPHA:93404 |
| Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Sensorineural hearing impairment |
OMIM:601071 |
| Symphalangism With Multiple Anomalies Of Hands And Feet |
|
Finger syndactyly, Small hypothenar eminence, Toe syndactyly, 2-5 finger cutaneous syndactyly, Ab... |
ORPHA:3246 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Syndactyly, Megalencephaly, Postaxial hand polydactyly, Thick corpus callosum, Macrocephaly, Poly... |
OMIM:615938 |
| Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Sideroblastic anemia, Hypochromia, Decreased mean corpuscular volume, Anemia |
OMIM:205950 |
| Intellectual Developmental Disorder, Autosomal Recessive 33 |
|
Syndactyly, Short toe |
OMIM:614341 |
| Polydactyly, Preaxial Iv |
|
Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent... |
OMIM:174700 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
| Intellectual Disability-Spasticity-Ectrodactyly Syndrome |
|
Finger syndactyly, Abnormality of the upper limb, Abnormal hip bone morphology, Clinodactyly of t... |
ORPHA:1891 |
| Auditory Neuropathy, Autosomal Dominant 1 |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:609129 |
| Syndactyly Type 5 |
|
Camptodactyly of finger, 2-3 toe syndactyly, Ulnar deviation of finger, Metacarpal synostosis, Cl... |
ORPHA:93406 |
| Brachydactyly, Type A2 |
|
Hallux valgus, Triangular shaped middle phalanx of the 2nd finger, Broad hallux, Short hallux, Ul... |
OMIM:112600 |
| Acropectoral Syndrome |
|
Preaxial hand polydactyly, Finger syndactyly |
ORPHA:85203 |
| Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv |
|
Syndactyly, Microcephaly, Aplasia/Hypoplasia of toe, Duplication of metatarsal bones, Cutaneous f... |
OMIM:600384 |
| Brachydactyly, Type A2, With Microcephaly |
|
Microcephaly, Clinodactyly of the 2nd toe, Absent middle phalanx of 2nd finger, Thumbs hypoplasti... |
OMIM:211369 |
| Brachydactyly Type A7 |
|
Hallux valgus, Short 2nd finger, Sandal gap, Short hallux, Aplasia/Hypoplasia of the middle phala... |
ORPHA:93397 |
| Chromosome 2Q35 Duplication Syndrome |
|
Distal symphalangism of hands, 3-4 finger syndactyly, 2-3 toe syndactyly, Cutaneous syndactyly |
OMIM:185900 |
| Wahab Syndrome |
|
Syndactyly, Short metacarpal, Short thumb, Short foot, Short palm, Clinodactyly, Camptodactyly, A... |
OMIM:615170 |
| Liebenberg Syndrome |
|
Metaphyseal widening, Elbow flexion contracture, Abnormal carpal morphology, 2-3 finger syndactyl... |
OMIM:186550 |
| Ectrodactyly-Polydactyly Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Postaxial hand polydactyly, Symphalangism affecting t... |
ORPHA:1892 |
| Brachydactyly-Syndactyly Syndrome |
|
Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,... |
OMIM:610713 |
| Split-Hand/Foot Malformation 4 |
|
Syndactyly, Aplasia/Hypoplasia of the phalanges of the hand, Split hand, Aplasia/Hypoplasia of th... |
OMIM:605289 |
| Split-Hand/Foot Malformation 6 |
|
Finger syndactyly, Toe syndactyly, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly |
OMIM:225300 |
| Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction |
|
Aplasia/Hypoplasia of the thumb, Single transverse palmar crease, Aplasia/Hypoplasia of the middl... |
OMIM:609432 |
| Camptosynpolydactyly, Complex |
|
Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly |
OMIM:607539 |
| Congenital Radioulnar Synostosis |
|
Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of... |
ORPHA:3269 |
| Diamond-Blackfan Anemia 3 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia |
OMIM:610629 |
| Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment |
OMIM:616515 |
| Mesoaxial Synostotic Syndactyly With Phalangeal Reduction |
|
Finger syndactyly, Toe syndactyly, Short hallux, Aplasia/Hypoplasia of the middle phalanges of th... |
ORPHA:157801 |
| Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Clinodactyly of the 5th finger, Finger syndactyly, Radioulnar synostosis, Hip dysplasia |
ORPHA:71289 |
| Gombo Syndrome |
|
Clinodactyly, Microcephaly, Radial deviation of finger, Brachydactyly |
OMIM:233270 |
| Microcephaly-Cardiomyopathy |
|
Clinodactyly of the 5th finger, Sandal gap, Microcephaly |
OMIM:251220 |
| Syndactyly Type 4 |
|
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ... |
ORPHA:93405 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... |
OMIM:619041 |
| Syndactyly, Type V |
|
Brachydactyly, Camptodactyly of finger, 4-5 toe syndactyly, 4-5 metacarpal synostosis, Enlarged p... |
OMIM:186300 |
| Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
| Split-Hand/Foot Malformation 2 |
|
Finger syndactyly, Short metacarpal, Split hand, Split foot, Short phalanx of finger |
OMIM:313350 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog... |
OMIM:616689 |
| Chromosome 2Q31.1 Duplication Syndrome |
|
Absent thumb, Short thumb, 3-4 finger cutaneous syndactyly, Talipes equinovarus, Triphalangeal thumb |
OMIM:613681 |
| Intrinsic Factor Deficiency |
|
Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Increased RBC distributio... |
OMIM:261000 |
| Ichthyosis Hystrix, Lambert Type |
|
Hyperkeratosis, Orthokeratotic hyperkeratosis |
OMIM:146600 |
| Thrombocytopenia 5 |
|
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... |
OMIM:616216 |
| Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Erythroid hyperplasia, Decreased mean corpuscular volume, Hypochromia, Anemia |
OMIM:206100 |
| Metacarpal 4-5 Fusion |
|
Clinodactyly of the 5th finger, 2-3 toe cutaneous syndactyly, 4-5 metacarpal synostosis, Short 5t... |
OMIM:309630 |
| Split-Foot Malformation-Mesoaxial Polydactyly Syndrome |
|
Aplasia/Hypoplasia of the phalanges of the 3rd toe, Mesoaxial foot polydactyly, 1-2 toe syndactyl... |
ORPHA:488232 |
| Bone Marrow Failure And Diabetes Mellitus Syndrome |
|
Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias |
OMIM:620044 |
| Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Macrocytic anemia, Persistence of hemoglobin F, Increased mean corpuscular volume, Microtia, Atre... |
OMIM:300946 |
| Split-Hand/Foot Malformation 1 |
|
Syndactyly, Broad hallux, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly, Ectrodact... |
OMIM:183600 |
| Brachydactyly-Syndactyly, Zhao Type |
|
Hallux valgus, Toe syndactyly, Short fifth metatarsal, Short middle phalanx of the 2nd finger, Sy... |
ORPHA:93409 |
| Syndactyly-Polydactyly-Earlobe Syndrome |
|
Broad toe, Preaxial hand polydactyly, 1-2 toe complete cutaneous syndactyly, Preaxial foot polyda... |
OMIM:186350 |
| Familial Pseudohyperkalemia |
|
Reticulocytosis, Episodic hemolytic anemia, Stomatocytosis, Increased mean corpuscular volume |
ORPHA:90044 |
| Heart-Hand Syndrome, Slovenian Type |
|
Syndactyly, Clinodactyly, Brachydactyly, Aplasia of the middle phalanx of the hand |
OMIM:610140 |
| Brachydactyly Type B |
|
Type B brachydactyly, Finger syndactyly, Short metacarpal, 2nd-5th toe middle phalangeal hypoplas... |
ORPHA:93383 |
| Split-Foot Malformation With Mesoaxial Polydactyly |
|
1-2 toe syndactyly, Mesoaxial hand polydactyly, 4-5 toe syndactyly, Split hand, Split foot |
OMIM:616890 |
| Brachydactyly Type B2 |
|
Type B brachydactyly, Finger syndactyly, Short toe, Symphalangism affecting the phalanges of the ... |
ORPHA:140908 |
| Santos Syndrome |
|
Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda... |
OMIM:613005 |
| Angioma Serpiginosum, Autosomal Dominant |
|
Hyperkeratosis |
OMIM:106050 |
| Papillomatosis, Confluent And Reticulated |
|
Hyperkeratosis |
OMIM:167900 |
| Placental Insufficiency |
|
Abnormal placenta morphology, Abnormal umbilical cord blood vessel morphology, Small placenta |
ORPHA:439167 |
| Aphalangy-Syndactyly-Microcephaly Syndrome |
|
Toe syndactyly, Camptodactyly of finger, Aplasia/Hypoplasia of the distal phalanges of the toes, ... |
ORPHA:1113 |
| Feingold Syndrome 2 |
|
Short middle phalanx of the 2nd finger, Short thumb, 2-3 toe syndactyly, Secondary microcephaly, ... |
OMIM:614326 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Splenomegaly, Hepatomegaly, Pallor |
ORPHA:46532 |
| Diamond-Blackfan Anemia 8 |
|
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia |
OMIM:612563 |
| Jawad Syndrome |
|
Hallux valgus, Single interphalangeal crease of fifth finger, Postaxial polydactyly, 4-5 toe synd... |
OMIM:251255 |
| Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
| Feingold Syndrome Type 2 |
|
Toe syndactyly, Microcephaly, Short thumb, Short middle phalanx of finger, Brachydactyly |
ORPHA:391646 |
| Elliptocytosis 3 |
|
Decreased mean corpuscular volume, Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia |
OMIM:617948 |
| Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Finger syndactyly, Microcephaly, Abnormality of the elbow, Radioulnar synostosis, Clinodactyly of... |
ORPHA:3268 |
| 15Q11Q13 Microduplication Syndrome |
|
Clinodactyly of the 5th finger, Finger syndactyly, Macrocephaly |
ORPHA:238446 |
| Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, Pe... |
ORPHA:232 |
| Crossed Polysyndactyly |
|
Finger syndactyly, Aplasia/Hypoplasia of the thumb, Postaxial hand polydactyly |
ORPHA:2935 |
| Multiple Synostoses Syndrome 3 |
|
Broad hallux, Limited interphalangeal movement, Hallux varus, Humeroradial synostosis, Metatarsal... |
OMIM:612961 |
| Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Hypopigmentation of the skin, Pallor, Short stature, Albinism |
ORPHA:2786 |
| Femur-Fibula-Ulna Complex |
|
Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Humeroradial synostosi... |
ORPHA:2019 |
| Adams-Oliver Syndrome 3 |
|
Microcephaly, Absent toe, Short metatarsal, 2-3 toe syndactyly, Short palm, Short distal phalanx ... |
OMIM:614814 |
| Polydactyly, Postaxial, Type A7 |
|
Postaxial foot polydactyly, Postaxial hand polydactyly, Short fifth metatarsal, 2-3 toe cutaneous... |
OMIM:617642 |
| Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials |
OMIM:601382 |
| Bone Marrow Failure Syndrome 6 |
|
Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia |
OMIM:618849 |
| Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Delayed epiphyseal ossification, Cerebral atrophy, Genu valgum, Cutaneous syndactyly, Hypoplasia ... |
ORPHA:166024 |
| Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Splenomega... |
ORPHA:3202 |
| Craniosynostosis, Philadelphia Type |
|
Finger syndactyly |
ORPHA:1527 |
| Oslam Syndrome |
|
Increased mean corpuscular volume, Abnormality of neutrophils |
ORPHA:2760 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Syndactyly, Hepatomegaly, Short stature, Splenomegaly, Jaundice, Growth delay, Pallor |
OMIM:615631 |
| Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures |
|
Clinodactyly of the 5th finger, Syndactyly, Macrocephaly, Tapered finger |
OMIM:618725 |
| Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome |
|
2-4 finger syndactyly, 1-4 finger syndactyly, Split hand, 2-3 finger syndactyly, Camptodactyly, J... |
OMIM:225280 |
| Acropectorovertebral Dysplasia |
|
Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Sho... |
OMIM:102510 |
| X-Linked Sideroblastic Anemia |
|
Elevated hepatic transaminase, Splenomegaly, Pallor, Hyperpigmentation of the skin |
ORPHA:75563 |
| Cleft-Limb-Heart Malformation Syndrome |
|
Syndactyly |
OMIM:215850 |
| Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Syndactyly, Abnormality of the hand, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short t... |
OMIM:246570 |
| Proximal Symphalangism |
|
Finger syndactyly, Brachydactyly, Camptodactyly of finger, Tarsal synostosis, Elbow dislocation, ... |
ORPHA:3250 |
| Brachydactyly, Type B2 |
|
Tarsal synostosis, Proximal placement of thumb, Aplasia/Hypoplasia of the distal phalanges of the... |
OMIM:611377 |
| Bardet-Biedl Syndrome 5 |
|
Syndactyly, Polydactyly, Brachydactyly |
OMIM:615983 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Extramedullary hematopoiesis, Anemia, EEG abnormality, Increased mean corpu... |
OMIM:617021 |
| Fatco Syndrome |
|
Finger syndactyly, Tarsal synostosis, Abnormal tibia morphology, Split hand, Absent hand, Abnorma... |
ORPHA:2492 |
| Camptobrachydactyly |
|
Finger syndactyly, Aplasia/Hypoplasia of the thumb, Toe syndactyly, Camptodactyly of finger, Ulna... |
ORPHA:1319 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Anisocytosis, Abnormal erythrocyte morphology, Increased mean corpuscular volume, Poikilocytosis,... |
ORPHA:98870 |
| Optic Atrophy 8 |
|
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... |
OMIM:616648 |
| Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Stomatocytosis, Increased mean corpuscular volume |
OMIM:185000 |
| Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Syndactyly, Polydactyly, Abnormal hip bone morphology, Upper limb phocomelia |
ORPHA:294975 |
| Greig Cephalopolysyndactyly Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Preaxial hand polydactyly, Postaxial han... |
ORPHA:380 |
| Split hand/foot malformation 1 (SHFM1) |
|
Toe syndactyly, Split hand, 2-3 toe syndactyly, Cutaneous finger syndactyly, Split foot |
DECIPHER:46 |
| Synpolydactyly 2 |
|
Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar... |
OMIM:608180 |
| Summitt Syndrome |
|
Syndactyly |
OMIM:272350 |
| Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Brachydactyly, Single transverse palmar crease, Bifid distal phalanx of the thumb, Microcephaly, ... |
ORPHA:370010 |
| Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Pallor |
ORPHA:79283 |
| Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... |
OMIM:228930 |
| Cone-Rod Dystrophy 11 |
|
Pallor |
OMIM:610381 |
| Peripheral Cone Dystrophy |
|
Pallor |
OMIM:609021 |
| Laurin-Sandrow Syndrome |
|
Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, A... |
OMIM:135750 |
| Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities |
|
Syndactyly, Microcephaly, Hypoplasia of the corpus callosum, Cerebral white matter hypoplasia, Cl... |
OMIM:619091 |
| Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia, Megaloblastic anemia |
OMIM:613839 |
| Intellectual Developmental Disorder, Autosomal Dominant 4 |
|
Syndactyly, Short toe |
OMIM:612581 |
| Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Finger syndactyly, Aplasia/hypoplasia of the humerus, Aplasia/Hypoplasia of the fibula, Abnormal ... |
ORPHA:2141 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Splenomegaly, Growth delay, Pallor, Elevated hepatic iron concentration, Cafe-au-la... |
OMIM:615234 |
| Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Finger syndactyly, Severe short stature, Camptodactyly of finger, Short thumb, Hypopigmented skin... |
ORPHA:2251 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Anisocytosis, Splenomegaly, Hepatosplenomegaly, Decreased mean corpuscular volume, Erythroid hype... |
OMIM:616860 |
| Abcd Syndrome |
|
Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal aganglionosis, Polyc... |
OMIM:600501 |
| Camptobrachydactyly |
|
Syndactyly, Short toe, Hand polydactyly, Congenital finger flexion contractures, Brachydactyly |
OMIM:114150 |
| Hypomelanosis Of Ito |
|
Syndactyly, Microcephaly, Cerebral atrophy, Hand polydactyly, Radial deviation of finger, Macroce... |
OMIM:300337 |
| Aplasia Cutis Congenita |
|
Finger syndactyly, Toe syndactyly, Skin ulcer, Spinal dysraphism |
ORPHA:1114 |
| Isolated Split Hand-Split Foot Malformation |
|
Finger syndactyly, Split hand, Absent hand, Oligodactyly |
ORPHA:2440 |
| Delta-Beta-Thalassemia |
|
Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231237 |
| Split-Foot Deformity With Mandibulofacial Dysostosis |
|
Split hand, Toe syndactyly, Split foot |
OMIM:183700 |
| Breath-Holding Spells |
|
Pallor |
OMIM:607578 |
| Aminopterin Syndrome Sine Aminopterin |
|
Syndactyly, Rudimentary postaxial polydactyly of hands, Arachnodactyly, Short stature, Megalencep... |
OMIM:600325 |
| Diamond-Blackfan Anemia 6 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:612561 |
| Silver-Russell Syndrome Due To A Point Mutation |
|
Small placenta, Oligohydramnios |
ORPHA:397590 |
| Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal motor evoked potentials, Sensorineural hearing impairment, Abnormal auditory evoked pote... |
ORPHA:320401 |
| Fanconi Anemia, Complementation Group I |
|
Short stature, Absent septum pellucidum, Optic nerve hypoplasia, Absent thumb, Microcephaly, Shor... |
OMIM:609053 |
| Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Small placenta |
ORPHA:73272 |
| Familial Focal Epilepsy With Variable Foci |
|
Focal cortical dysplasia, Polymicrogyria, Pallor, Hemimegalencephaly |
ORPHA:98820 |
| Benign Paroxysmal Torticollis Of Infancy |
|
Pallor |
ORPHA:71518 |
| Summitt Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Genu valgum, Macrocephaly, Short palm, Clinodactyly o... |
ORPHA:3210 |
| Acropectorovertebral Dysplasia |
|
Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, Triphalangeal thumb, Synostosis of... |
ORPHA:957 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Growth delay, Pallor |
OMIM:613561 |
| Monosomy 5P |
|
Finger syndactyly, Short stature, Microcephaly, Small hand, Intrauterine growth retardation |
ORPHA:281 |
| Optic Atrophy 1 |
|
Pallor |
OMIM:165500 |
| Acute Peripheral Arterial Occlusion |
|
Pallor |
ORPHA:90064 |
| Dermatitis, Atopic |
|
Dry skin, Pallor, Facial erythema |
OMIM:603165 |
| Cyclic Vomiting Syndrome |
|
Growth delay, Pallor, Microcephaly |
OMIM:500007 |
| Majeed Syndrome |
|
Anemia of inadequate production, Microcytic anemia, Hepatosplenomegaly, Decreased mean corpuscula... |
OMIM:609628 |
| Tibial Aplasia-Ectrodactyly Syndrome |
|
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... |
ORPHA:3329 |
| Pyruvate Kinase Deficiency Of Red Cells |
|
Hepatomegaly, Splenomegaly, Jaundice, Pallor, Cholecystitis, Cholelithiasis, Intrauterine growth ... |
OMIM:266200 |
| Methylcobalamin Deficiency Type Cble |
|
Macrocytic anemia, Pancytopenia, Increased mean corpuscular volume, Neutropenia, Hearing impairment |
ORPHA:2169 |
| Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production |
OMIM:603529 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Large placenta, Umbilical hernia, Polyhydramnios |
ORPHA:254534 |
| Mesomelic Dysplasia, Nievergelt Type |
|
Finger syndactyly, Abnormal morphology of ulna, Micromelia, Tarsal synostosis, Elbow dislocation,... |
ORPHA:2633 |
| Primary Lateral Sclerosis, Juvenile |
|
Cerebral cortical atrophy, Pallor |
OMIM:606353 |
| Gordon Syndrome |
|
Clinodactyly of the 5th finger, Finger syndactyly, Camptodactyly of finger |
ORPHA:376 |
| Sclerosteosis |
|
Finger syndactyly, 2-3 finger syndactyly, Diaphyseal thickening, Curved distal phalanges of the hand |
ORPHA:3152 |
| Brachydactyly, Type B1 |
|
Type B brachydactyly, Syndactyly, Aplasia/Hypoplasia of the distal phalanges of the toes, Aplasia... |
OMIM:113000 |
| Leber Congenital Amaurosis 14 |
|
Pallor |
OMIM:613341 |
| Carpenter Syndrome |
|
Syndactyly, Finger syndactyly, Toe syndactyly, Postaxial hand polydactyly, Genu valgum, Polydacty... |
ORPHA:65759 |
| Ravine Syndrome |
|
Abnormal auditory evoked potentials |
ORPHA:99852 |
| Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome |
|
Finger syndactyly, Short stature, Proximal placement of thumb, Abnormal thumb morphology, Hypopig... |
ORPHA:1825 |
| Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Syndactyly, Clinodactyly, Brachydactyly |
OMIM:610023 |
| Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... |
OMIM:612576 |
| Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Optic disc pallor, Anisocytosis, Decreased mean corpuscular volume, Elliptocytosis, Poikilocytosi... |
OMIM:616959 |
| Kcnq2-Related Epileptic Encephalopathy |
|
Abnormal globus pallidus morphology, Cerebral atrophy, Facial erythema, Abnormal cerebral white m... |
ORPHA:439218 |
| Terminal Osseous Dysplasia |
|
Syndactyly, Camptodactyly of finger, Abnormal hand bone ossification, Short toe, Mesomelic arm sh... |
OMIM:300244 |
| Acute Myelomonocytic Leukemia |
|
Pallor |
ORPHA:517 |
| Diamond-Blackfan Anemia 7 |
|
Macrocytic anemia, Increased mean corpuscular volume, Atresia of the external auditory canal, Neu... |
OMIM:612562 |
| Retinitis Pigmentosa 51 |
|
Polydactyly, Pallor |
OMIM:613464 |
| Beta-Thalassemia |
|
Hepatomegaly, Splenomegaly, Hepatitis, Skin ulcer, Pallor, Cholelithiasis |
ORPHA:848 |
| Bardet-Biedl Syndrome 4 |
|
Syndactyly, Polydactyly, Brachydactyly |
OMIM:615982 |
| Periventricular Nodular Heterotopia 1 |
|
Syndactyly, Cerebellar hypoplasia, Hypoplasia of the corpus callosum, Short finger, Clinodactyly,... |
OMIM:300049 |
| Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Pallor |
OMIM:612989 |
| Myopathic Ehlers-Danlos Syndrome |
|
Shoulder flexion contracture, Tapered finger, Elbow flexion contracture, Congenital bilateral hip... |
ORPHA:536516 |
| Nevus Comedonicus Syndrome |
|
Finger syndactyly, Toe syndactyly, Preaxial polydactyly, Microcephaly |
ORPHA:64754 |
| Boomerang Dysplasia |
|
Finger syndactyly, Abnormal morphology of the radius, Abnormal morphology of ulna, Micromelia, Ap... |
ORPHA:1263 |
| Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Facial palsy, EEG abnormality |
OMIM:617519 |
| Charlie M Syndrome |
|
Finger syndactyly, Split hand, Triphalangeal thumb, Abnormal metacarpal morphology, Brachydactyly |
ORPHA:1406 |
| Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Cupped ear, Persistence ... |
OMIM:617052 |
| Spontaneous Periodic Hypothermia |
|
Pallor, Aplasia/Hypoplasia of the corpus callosum |
ORPHA:29822 |
| Senior-Loken Syndrome 8 |
|
Pancreatic cysts, Polydactyly, Pallor, Intrahepatic bile duct dilatation, Hepatic cysts |
OMIM:616307 |
| Laurin-Sandrow Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Absent rad... |
ORPHA:2378 |
| Irida Syndrome |
|
Intrahepatic cholestasis, Pallor |
ORPHA:209981 |
| Immunodeficiency 96 |
|
Increased proportion of gamma-delta T cells, Increased mean corpuscular volume |
OMIM:619774 |
| Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials |
OMIM:125250 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Pancreatic islet-cell hyperplasia, Pallor |
ORPHA:276608 |
| Joubert Syndrome 33 |
|
Syndactyly, Macrocephaly |
OMIM:617767 |
| Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Increased mean corpuscular volume, Megaloblastic anemia |
OMIM:277410 |
| Holt-Oram Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Short humerus, Aplasia of the ulna, Absent thumb, Absent radi... |
OMIM:142900 |
| Greig Cephalopolysyndactyly Syndrome |
|
Broad hallux phalanx, Broad hallux, 1-3 toe syndactyly, Preaxial hand polydactyly, Postaxial hand... |
OMIM:175700 |
| Limb-Mammary Syndrome |
|
Hallux valgus, Syndactyly, Split hand, Split foot, Camptodactyly, Joint contracture of the hand |
OMIM:603543 |
| Erythrokeratodermia Variabilis |
|
Short stature, Hypermelanotic macule, Tapered finger, Microcephaly, Erythema, Patchy palmoplantar... |
ORPHA:317 |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hepatosplenomegaly, Hemolytic anemia, Decreased mean corpuscular volume, Reticulocytosis |
OMIM:611590 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Focal pancreatic islet hyperplasia, Pallor, Hepatomegaly |
ORPHA:276575 |
| 16Q24.3 Microdeletion Syndrome |
|
Optic nerve hypoplasia, Protruding ear, Increased mean corpuscular volume, Thrombocytopenia, Hear... |
ORPHA:261250 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Pallor, Hepatomegaly |
ORPHA:276556 |
| Weaver Syndrome |
|
Finger syndactyly, Sandal gap, Camptodactyly of finger, Redundant skin, Large hands, Talipes equi... |
ORPHA:3447 |
| Hb Bart'S Hydrops Fetalis |
|
Splenomegaly, Hepatomegaly, Pallor |
ORPHA:163596 |
| Dominant Beta-Thalassemia |
|
Bowing of the long bones, Hypersplenism, Splenomegaly, Jaundice, Skin ulcer, Genu valgum, Hepatos... |
ORPHA:231226 |
| Evans Syndrome |
|
Jaundice, Pallor, Petechiae |
ORPHA:1959 |
| Myelofibrosis |
|
Splenomegaly, Pallor, Purpura |
OMIM:254450 |
| Filippi Syndrome |
|
Single transverse palmar crease, Microcephaly, 2-4 toe syndactyly, Postnatal growth retardation, ... |
OMIM:272440 |
| Ectodermal Dysplasia With Mental Retardation And Syndactyly |
|
Dry skin, 3-4 finger syndactyly, 2-3 toe syndactyly |
OMIM:600906 |
| Ring Chromosome 21 Syndrome |
|
Syndactyly, Short stature, Microcephaly, Small hand, Narrow palm, Multiple cafe-au-lait spots, Cl... |
ORPHA:1445 |
| Endove Syndrome, Limb-Only Type |
|
Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti... |
OMIM:619217 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Short stature, Pallor |
ORPHA:49827 |
| 3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Hepatomegaly, Microcephaly, Pallor, Abnormal cerebral white matter morphology |
OMIM:246450 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Proximal radio-ulnar synostosis, Syndactyly, Purpura, Radial bowing, Ulnar bowing, Hip dislocatio... |
OMIM:605432 |
| Cutis Laxa, Autosomal Recessive, Type Iie |
|
Syndactyly, Short stature, Genu varum, Hip dislocation, Cutis laxa, Deep palmar crease, Clinodact... |
OMIM:619451 |
| Leishmaniasis |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Skin ulcer, Pallor |
ORPHA:507 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Scapular winging, Microcephaly, Growth delay, Pallor, Delayed puberty |
OMIM:600462 |
| Elliptocytosis 1 |
|
Splenomegaly, Jaundice, Pallor |
OMIM:611804 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Pallor, Hepatomegaly |
ORPHA:276580 |
| Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten... |
ORPHA:124 |
| Shwachman-Diamond Syndrome |
|
Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane... |
ORPHA:811 |
| Cold Agglutinin Disease |
|
Splenomegaly, Hepatomegaly, Pallor |
ORPHA:56425 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Aplastic anemia, Anemia, Leukopenia, Increased mean corpuscular volume, Lymphopenia, Thrombocytop... |
OMIM:127550 |
| Acrofrontofacionasal Dysostosis 2 |
|
Syndactyly, Redundant neck skin, Broad hallux, Short stature, Microcephaly, Hand polydactyly, Bro... |
OMIM:239710 |
| Beta-Thalassemia Intermedia |
|
Hepatomegaly, Hepatocellular carcinoma, Splenomegaly, Jaundice, Skin ulcer, Hepatosplenomegaly, A... |
ORPHA:231222 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Short metatarsal, Radioulnar s... |
OMIM:605282 |
| Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome |
|
Finger syndactyly, Arachnodactyly, Camptodactyly of finger, Microcephaly, Triphalangeal thumb, Sh... |
ORPHA:2994 |
| Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Anisopoikilocytosis, Reticulocytopenia, Hepatosplenomegaly, Decreased mean corpuscular volume, Dy... |
ORPHA:300298 |
| Beta-Thalassemia Major |
|
Hepatomegaly, Bowing of the long bones, Hypersplenism, Splenomegaly, Jaundice, Skin ulcer, Genu v... |
ORPHA:231214 |
| Primary Myelofibrosis |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Hepatosplenomegaly, Pallor, Ecchymosis, Petechia... |
ORPHA:824 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Syndactyly, Megalencephaly, Progressive macrocephaly, Polydactyly, Cavum septum pellucidum, Polym... |
OMIM:602501 |
| Charcot-Marie-Tooth Disease, Type 4B3 |
|
Syndactyly, Microcephaly |
OMIM:615284 |
| Hypotrichosis-Intellectual Disability, Lopes Type |
|
1-5 finger complete cutaneous syndactyly |
ORPHA:2266 |
| Curry-Jones Syndrome |
|
Finger syndactyly, Toe syndactyly, Abnormality of thumb phalanx, Preaxial hand polydactyly, Foot ... |
ORPHA:1553 |
| Craniofrontonasal Dysplasia |
|
Finger syndactyly, Broad hallux phalanx, Sandal gap, Camptodactyly of finger, Down-sloping should... |
ORPHA:1520 |
| Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
Broad hallux, Postaxial hand polydactyly, 2-3 finger syndactyly, 2-3 toe syndactyly, Postaxial po... |
OMIM:217085 |
| Refractory Anemia With Excess Blasts |
|
Acute myeloid leukemia, Anemia of inadequate production, Leukocytosis, Abnormal mean corpuscular ... |
ORPHA:86839 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Hepatomegaly, Pallor |
ORPHA:324575 |
| Silver-Russell Syndrome 1 |
|
Syndactyly, Short distal phalanx of the 5th finger, Hepatocellular carcinoma, Clinodactyly of the... |
OMIM:180860 |
| Fetal Akinesia Deformation Sequence 1 |
|
Decreased fetal movement, Premature birth, Nonimmune hydrops fetalis, Polyhydramnios, Fetal akine... |
OMIM:208150 |
| Congenital Heart Block |
|
Intrauterine growth retardation, Pallor |
ORPHA:60041 |
| Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Hepatomegaly, Splenomegaly, Jaundice, Hepatitis, Pallor, Cholelithiasis |
OMIM:194380 |
| Moebius Syndrome |
|
Syndactyly, Brachydactyly, Split hand, Abnormal pelvic girdle bone morphology, Hypoplasia of the ... |
OMIM:157900 |
| Rubinstein-Taybi Syndrome 2 |
|
Syndactyly, Broad hallux, Microcephaly, Short first metatarsal, Short 5th toe, Prominent fingerti... |
OMIM:613684 |
| Waardenburg Syndrome, Type 3 |
|
Scapular winging, Partial albinism, Camptodactyly of finger, Microcephaly, Hypopigmented skin pat... |
OMIM:148820 |
| Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... |
OMIM:601596 |
| Grange Syndrome |
|
Syndactyly, Short palm |
ORPHA:79094 |
| Fanconi Anemia, Complementation Group E |
|
Anemic pallor, Short stature, Absent thumb, Absent radius, Short thumb, Microcephaly, Complete du... |
OMIM:600901 |
| Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Syndactyly, Clinodactyly, Arachnodactyly, Microcephaly |
OMIM:619092 |
| Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Syndactyly, Osteolysis involving bones of the upper limbs, Osteolysis involving bones of the lowe... |
ORPHA:88630 |
| Pfeiffer Syndrome Type 1 |
|
Broad hallux phalanx, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Short h... |
ORPHA:93258 |
| Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Redundant neck skin, Hydranencephaly, Single transverse palmar crease, 2-3 toe syndactyly, Cutane... |
OMIM:236500 |
| Tibial Hemimelia |
|
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Cutaneous finger syndactyly, Foot o... |
ORPHA:93322 |
| Dravet Syndrome |
|
Pallor, Global brain atrophy, Tibial torsion |
ORPHA:33069 |
| Epidermolysis Bullosa, Lethal Acantholytic |
|
Syndactyly, Sandal gap, Widely spaced toes, Mitten deformity, Clinodactyly of the 5th finger, Tap... |
OMIM:609638 |
| Desbuquois Dysplasia 2 |
|
Single transverse palmar crease, Metaphyseal widening, Short phalanx of finger, Genu varum, Short... |
OMIM:615777 |
| Fanconi Anemia, Complementation Group C |
|
Anemic pallor, Short stature, Absent thumb, Absent radius, Short thumb, Microcephaly, Complete du... |
OMIM:227645 |
| Laurence-Moon Syndrome |
|
Finger syndactyly, Bilateral single transverse palmar creases, Short stature, Congenital hepatic ... |
ORPHA:2377 |
| Silver-Russell Syndrome 3 |
|
Relative macrocephaly, Syndactyly, Short stature, Postnatal growth retardation, Small hand, Melan... |
OMIM:616489 |
| Fanconi Anemia, Complementation Group A |
|
Anemic pallor, Short stature, Absent thumb, Absent radius, Short thumb, Microcephaly, Abnormality... |
OMIM:227650 |
| Bardet-Biedl Syndrome 9 |
|
Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Polyda... |
OMIM:615986 |
| Drug-Induced Autoimmune Hemolytic Anemia |
|
Splenomegaly, Pallor |
ORPHA:90037 |
| Fibular Hemimelia |
|
Bowing of the legs, Tibial bowing, Foot oligodactyly, Short tibia, Arthralgia of the hip, Finger ... |
ORPHA:93323 |
| Charcot-Marie-Tooth Disease, Type 4D |
|
Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p... |
OMIM:601455 |
| 6P22 Microdeletion Syndrome |
|
Finger syndactyly, Clinodactyly, Redundant skin |
ORPHA:251046 |
| Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome |
|
Finger syndactyly, Cerebral calcification, Toe syndactyly, Arachnodactyly, Microcephaly, Short pa... |
ORPHA:73246 |
| Short Stature With Microcephaly And Distinctive Facies |
|
Syndactyly, Short digit, Severe short stature, Proximal placement of thumb, Microcephaly, Spotty ... |
OMIM:615789 |
| 19Q13.11 Microdeletion Syndrome |
|
Finger syndactyly, Toe syndactyly, Congenital hip dislocation, Microcephaly, Growth delay, Toe cl... |
ORPHA:217346 |
| Orofaciodigital Syndrome Viii |
|
Syndactyly, Short tibia, Polydactyly |
OMIM:300484 |
| Poland Syndrome |
|
Syndactyly, Unilateral oligodactyly, Unilateral brachydactyly, Hypoplasia of deltoid muscle |
OMIM:173800 |
| Multiple Synostoses Syndrome 1 |
|
Single transverse palmar crease, Symphalangism affecting the phalanges of the hand, Cutaneous fin... |
OMIM:186500 |
| Hereditary Spherocytosis |
|
Hepatomegaly, Splenomegaly, Jaundice, Skin ulcer, Growth delay, Pallor, Cholelithiasis |
ORPHA:822 |
| Filippi Syndrome |
|
Enlarged epiphyses, Finger syndactyly, Severe short stature, Short stature, Microcephaly, Growth ... |
ORPHA:3255 |
| Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome |
|
Syndactyly, Cerebral cortical atrophy, Congenital bilateral hip dislocation |
ORPHA:404451 |
| Bloom Syndrome |
|
Syndactyly, Hypopigmentation of the skin, Microcephaly, Postnatal growth retardation, Spotty hypo... |
OMIM:210900 |
| Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Finger syndactyly, Severe short stature, Microcephaly, Abnormality of the elbow, Hip dislocation,... |
ORPHA:1005 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Splenomegaly, Hepatomegaly, Pallor |
ORPHA:3226 |
| Acrootoocular Syndrome |
|
Short metacarpal, Small hypothenar eminence, Sandal gap, Decreased palmar creases, Abnormal finge... |
ORPHA:2980 |
| Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Clinodactyly of the 5th finger, Syndactyly, Toe syndactyly |
OMIM:601163 |
| Holt-Oram Syndrome |
|
Finger syndactyly, Down-sloping shoulders, Absent thumb, Abnormality of the humerus, Split hand, ... |
ORPHA:392 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Syndactyly, Palmoplantar keratoderma |
OMIM:613576 |
| 20P13 Microdeletion Syndrome |
|
Finger syndactyly, Microcephaly, Polydactyly, Macrocephaly, Clinodactyly, Brachydactyly |
ORPHA:313781 |
| Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Pancreatic islet-cell hyperplasia, Pallor, Increased... |
ORPHA:263455 |
| Ritscher-Schinzel Syndrome 2 |
|
Relative macrocephaly, Syndactyly, Broad hallux, Overlapping toe, Camptodactyly of finger, Clinod... |
OMIM:300963 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Splenomegaly, Hepatomegaly, Pallor |
ORPHA:75564 |
| Bohring-Opitz Syndrome |
|
Syndactyly, Overlapping toe, Ulnar deviation of the wrist, Short stature, Tapered finger, Mesomel... |
OMIM:605039 |
| Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Temporal optic disc pallor, Absent brainstem auditory responses, Sensorineural hearing impairment... |
ORPHA:1215 |
| Fanconi Anemia, Complementation Group D2 |
|
Anemic pallor, Short stature, Absent thumb, Absent radius, Preaxial hand polydactyly, Short thumb... |
OMIM:227646 |
| Fumarase Deficiency |
|
Relative macrocephaly, Microcephaly, Intrahepatic cholestasis, Cerebral atrophy, Hypoplasia of th... |
OMIM:606812 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Encephalocele, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Short stature, Micromelia, Mic... |
ORPHA:1908 |
| Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Syndactyly, Postaxial polydactyly, Preaxial polydactyly, Femoral bowing, Short long bone, Acetabu... |
OMIM:615503 |
| Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Short 2nd finger, Sandal gap, Broad hallux, Microcephaly, 2-3 toe syndactyly, Cutaneous syndactyl... |
OMIM:600987 |
| Craniosynostosis, Herrmann-Opitz Type |
|
Finger syndactyly, Short stature, Micromelia, Split hand, Intrauterine growth retardation, Brachy... |
ORPHA:2145 |
| Adams-Oliver Syndrome 6 |
|
Syndactyly, Portal hypertension, Splenomegaly, Foot oligodactyly, Hepatic fibrosis, Brachydactyly |
OMIM:616589 |
| Autoimmune Hemolytic Anemia, Warm Type |
|
Splenomegaly, Jaundice, Pallor |
ORPHA:90033 |
| Neu-Laxova Syndrome 1 |
|
Decreased fetal movement, Spina bifida, Polyhydramnios, Fetal akinesia sequence, Stillbirth, Neon... |
OMIM:256520 |
| Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,... |
OMIM:105650 |
| Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome |
|
Finger syndactyly, Short stature, Camptodactyly of finger, Biparietal narrowing, Abnormal hip bon... |
ORPHA:1323 |
| Cranioectodermal Dysplasia |
|
Finger syndactyly, Brachydactyly, Rhizomelia, Abnormal diaphysis morphology, Clinodactyly of the ... |
ORPHA:1515 |
| 17Q12 Microduplication Syndrome |
|
Finger syndactyly, Cortical dysplasia, Toe syndactyly |
ORPHA:261272 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Umbilical hernia, Large placenta, Polyhydramnios |
ORPHA:254528 |
| Mohr Syndrome |
|
Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Porencephalic cyst, Flared met... |
OMIM:252100 |
| Tukel Syndrome |
|
Carpal synostosis, Syndactyly, Carpal bone aplasia, Postaxial oligodactyly |
OMIM:609428 |
| Schizophrenia 1 |
|
Syndactyly, Short proximal phalanx of the 4th toe |
OMIM:181510 |
| Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Pallor, Hepatosplenomegaly |
ORPHA:99931 |
| American Trypanosomiasis |
|
Splenomegaly, Hepatomegaly, Pallor |
ORPHA:3386 |
| Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Prelingual ... |
ORPHA:52368 |
| Restrictive Dermopathy |
|
Decreased fetal movement, Premature birth, Premature delivery because of cervical insufficiency o... |
ORPHA:1662 |
| Anemia, Sideroblastic, 1 |
|
Anemic pallor |
OMIM:300751 |
| Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Aplasia of the distal phalanx of the 2nd finger, 2-5 finger syndactyly, Syndactyly, Congenital hi... |
OMIM:308050 |
| Acrofacial Dysostosis, RodrÃguez Type |
|
Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Radioulnar synostosis, Abnormal pelvic ... |
ORPHA:1788 |
| Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome |
|
Finger syndactyly, Toe syndactyly, Short hallux, Cerebellar hypoplasia, Abnormal metacarpal morph... |
ORPHA:3224 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Relative macrocephaly, Syndactyly, Micromelia, Postaxial polydactyly, Hypoplastic ilia, Hypoplasi... |
OMIM:617895 |
| Ectodermal Dysplasia-Syndactyly Syndrome 1 |
|
2-4 finger syndactyly, 2-3 toe cutaneous syndactyly, 4-5 toe syndactyly, Cutaneous finger syndact... |
OMIM:613573 |
| Letterer-Siwe Disease |
|
Jaundice, Pallor, Hepatosplenomegaly |
OMIM:246400 |
| Verloove Vanhorick-Brubakk Syndrome |
|
Finger syndactyly, Tarsal synostosis, Abnormal femur morphology, Abnormal pelvic girdle bone morp... |
ORPHA:3429 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ... |
ORPHA:3320 |
| Retinitis Pigmentosa 75 |
|
Pallor |
OMIM:617023 |
| Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Absent brainstem auditory responses, Hypochromic microcytic anemia, Vestibular areflexia, Thrombo... |
ORPHA:3240 |
| Pelvis-Shoulder Dysplasia |
|
Syndactyly, Short stature, Camptodactyly of finger, Fifth finger distal phalanx clinodactyly, Mes... |
ORPHA:2839 |
| Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Optic disc pallor, Abnormal auditory evoked potentials |
OMIM:617523 |
| Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Syndactyly, Broad hallux, Single transverse palmar crease, Micromelia, Sandal gap, Short stature,... |
OMIM:614800 |
| Pfeiffer Syndrome |
|
Finger syndactyly, Brachydactyly, Symphalangism affecting the phalanges of the hand, Hip dysplasi... |
ORPHA:710 |
| Non-Functioning Paraganglioma |
|
Pallor |
ORPHA:94080 |
| Acute Bilirubin Encephalopathy |
|
Hemolytic anemia, Sensorineural hearing impairment, Abnormal auditory evoked potentials |
ORPHA:529799 |
| Chronic Bilirubin Encephalopathy |
|
Hemolytic anemia, Sensorineural hearing impairment, Abnormal auditory evoked potentials |
ORPHA:529808 |
| Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits |
|
Syndactyly, Clinodactyly, Cerebellar hypoplasia, Microcephaly |
OMIM:618087 |
| Acrofacial Dysostosis, Catania Type |
|
Finger syndactyly, Brachydactyly, Short stature, Microcephaly, Small hand, Short palm, Clinodacty... |
ORPHA:1786 |
| Joubert Syndrome 17 |
|
Preaxial polydactyly, Postaxial polydactyly, 3-4 finger syndactyly |
OMIM:614615 |
| X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome |
|
Branchial cyst, Finger syndactyly, Single transverse palmar crease, Microcephaly, Tapered finger,... |
ORPHA:435938 |
| Klippel-Trenaunay-Weber Syndrome |
|
Syndactyly, Hand oligodactyly, Macrodactyly, Hand polydactyly |
OMIM:149000 |
| Microphthalmia With Brain And Digit Anomalies |
|
Finger syndactyly, Proximal placement of thumb, Microcephaly, Postaxial foot polydactyly, Inferio... |
ORPHA:139471 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Syndactyly, Brachydactyly, Hypoplastic scapulae, Bowing of the long bones, Short stature, Microme... |
OMIM:614091 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Splenomegaly, Jaundice, Pallor, Prolonged neonatal jaundice |
OMIM:300908 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Finger syndactyly, Toe syndactyly, Hypermelanotic macule, Hand polydactyly, Foot polydactyly, Mac... |
ORPHA:60040 |
| Mixed-Type Autoimmune Hemolytic Anemia |
|
Pallor |
ORPHA:90036 |
| Eem Syndrome |
|
Finger syndactyly, Ectrodactyly |
ORPHA:1897 |
| Adult Syndrome |
|
Finger syndactyly, Toe syndactyly, Skin ulcer, Melanocytic nevus, Split foot, Freckling, Dry skin |
ORPHA:978 |
| Cenani-Lenz Syndactyly Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Broad hallux, Hypoplasia of the radius, Radioulnar synostosis... |
OMIM:212780 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Microcephaly, Jaundice, Lipid ac... |
ORPHA:20 |
| Alkuraya-Kucinskas Syndrome |
|
Overlapping toe, Cutaneous syndactyly, Macrocephaly, Aplasia/Hypoplasia of the corpus callosum, H... |
OMIM:617822 |
| Bartsocas-Papas Syndrome |
|
Finger syndactyly, Toe syndactyly, Microcephaly, Absent thumb, Aplasia/Hypoplasia of the distal p... |
ORPHA:1234 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:109120 |
| Rheumatic Fever |
|
Hemiballismus, Erythema, Pallor |
ORPHA:3099 |
| Isolated Osteopoikilosis |
|
Syndactyly, Abnormal pelvis bone morphology, Abnormal pelvis bone ossification, Abnormal femur mo... |
ORPHA:166119 |
| Oliver Syndrome |
|
Camptodactyly of finger, Microcephaly, Short toe, Postaxial hand polydactyly, Elbow flexion contr... |
ORPHA:2920 |
| Goldberg-Shprintzen Megacolon Syndrome |
|
Finger syndactyly, Pachygyria, Hypoplasia of the corpus callosum, Microcephaly |
ORPHA:66629 |
| Kagami-Ogata Syndrome |
|
Large placenta, Premature birth, Polyhydramnios |
ORPHA:254519 |
| Pfeiffer Syndrome |
|
Finger syndactyly, Syndactyly, Shortening of all middle phalanges of the fingers, Broad hallux, H... |
OMIM:101600 |
| Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Aplasia/Hypoplasia of the fibula, Short long bone, Apl... |
ORPHA:2256 |
| 19P13.12 Microdeletion Syndrome |
|
Short palm, Finger syndactyly, Sandal gap, Aplasia/Hypoplasia of the cerebellar vermis, Microceph... |
ORPHA:254346 |
| Cenani-Lenz Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Micromelia, Elbow dislocation, Short t... |
ORPHA:3258 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis, Pallor |
ORPHA:348 |
| Crane-Heise Syndrome |
|
Finger syndactyly, Toe syndactyly, Hypoplastic scapulae, Aplastic clavicle, Aplasia/Hypoplasia of... |
ORPHA:1512 |
| Deafness, Autosomal Dominant 2B |
|
High-frequency hearing impairment |
OMIM:612644 |
| Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Optic disc pallor, Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:619260 |
| 8Q22.1 Microdeletion Syndrome |
|
Finger syndactyly, Sandal gap, Camptodactyly of finger, Microcephaly, Lack of skin elasticity |
ORPHA:178303 |
| Triploidy |
|
Finger syndactyly, Hepatomegaly, Abnormality of the pancreas, Abnormality of the gallbladder, Men... |
ORPHA:3376 |
| Cone-Rod Dystrophy 8 |
|
Pallor |
OMIM:605549 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Relative macrocephaly, Hyperextensibility of the finger joints, Syndactyly, Short stature, Aplasi... |
OMIM:151050 |
| Adams-Oliver Syndrome |
|
Encephalocele, Finger syndactyly, Brachydactyly, Portal hypertension, Congenital hepatic fibrosis... |
ORPHA:974 |
| Hereditary Folate Malabsorption |
|
Cerebral calcification, Pallor |
ORPHA:90045 |
| Tay-Sachs Disease |
|
Pallor |
OMIM:272800 |
| 2Q37 Microdeletion Syndrome |
|
Finger syndactyly, Short metacarpal, Toe syndactyly, Brachydactyly, Short stature, Microcephaly, ... |
ORPHA:1001 |
| Bardet-Biedl Syndrome 6 |
|
Syndactyly, Postaxial polydactyly |
OMIM:605231 |
| Neu-Laxova Syndrome 2 |
|
Finger syndactyly, Toe syndactyly, Rocker bottom foot, Spina bifida, Microcephaly, Lissencephaly,... |
OMIM:616038 |
| Sepsis In Premature Infants |
|
Hepatomegaly, Splenomegaly, Jaundice, Decreased liver function, Pallor, Petechiae, Purpura |
ORPHA:90051 |
| Cohen Syndrome |
|
Finger syndactyly, Arachnodactyly, Sandal gap, Short stature, Tapered finger, Microcephaly, Narro... |
ORPHA:193 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Pallor, Hepatosplenomegaly |
ORPHA:331206 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hemolytic anemia, Reticulocytosis, Anisocytosis, Leukocytosis, Hepatosplenomegaly, Decreased mean... |
OMIM:618278 |
| Polysyndactyly With Cardiac Malformation |
|
Preaxial hand polydactyly, Syndactyly, Duplication of phalanx of hallux |
OMIM:263630 |
| Aarskog-Scott Syndrome |
|
Finger syndactyly, Short stature, Single transverse palmar crease, Camptodactyly of finger, Small... |
ORPHA:915 |
| 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Pallor |
ORPHA:13 |
| Myoclonic-Astatic Epilepsy |
|
Syndactyly, Premature skin wrinkling, Microcephaly |
ORPHA:1942 |
| 2Q31.1 Microdeletion Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Sandal gap, Abnormal morphology of ulna,... |
ORPHA:251014 |
| Myopathy, Mitochondrial, And Ataxia |
|
Growth delay, Short stature, Pallor |
OMIM:617675 |
| Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Syndactyly, Redundant neck skin, Proximal placement of thumb, Microcephaly, Cerebellar hypoplasia... |
OMIM:217980 |
| Mosaic Trisomy 16 |
|
Large placenta, Single umbilical artery, Premature birth |
ORPHA:1708 |
| Craniodigital-Intellectual Disability Syndrome |
|
Finger syndactyly, Spina bifida occulta, Short stature |
ORPHA:1514 |
| Incontinentia Pigmenti |
|
Short stature, Microcephaly, Erythema, Abnormality of skin pigmentation, Pallor |
OMIM:308300 |
| Microphthalmia With Limb Anomalies |
|
Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of the 5th finge... |
ORPHA:1106 |
| Greenberg Dysplasia |
|
Nonimmune hydrops fetalis, Polyhydramnios, Echogenic fetal bowel, Large placenta, Increased nucha... |
OMIM:215140 |
| Erythrokeratodermia Variabilis Et Progressiva 1 |
|
Generalized hyperkeratosis, Patchy palmoplantar hyperkeratosis |
OMIM:133200 |
| Endocrine-Cerebroosteodysplasia |
|
Syndactyly, Bowed forearm bones, Ulnar deviation of the hand, Sandal gap, Single transverse palma... |
OMIM:612651 |
| Rubinstein-Taybi Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Abnormal distal phalanx morphology of finger, Microcepha... |
ORPHA:783 |
| Epidermolysis Bullosa, Junctional 1B, Severe |
|
Syndactyly |
OMIM:226700 |
| Chromosome 13Q33-Q34 Deletion Syndrome |
|
Encephalocele, Overlapping toe, Single transverse palmar crease, Short stature, Tapered finger, M... |
OMIM:619148 |
| Aarskog-Scott Syndrome |
|
Hyperextensibility of the finger joints, Syndactyly, Short stature, Single transverse palmar crea... |
OMIM:305400 |
| Late-Infantile/Juvenile Krabbe Disease |
|
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, EEG with per... |
ORPHA:206443 |
| Kbg Syndrome |
|
Short stature, Single transverse palmar crease, Microcephaly, Cutaneous syndactyly, Finger clinod... |
ORPHA:2332 |
| Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Syndactyly, Single transverse palmar crease, Microcephaly, 2-3 toe syndactyly, Coxa vara, Radioul... |
OMIM:614701 |
| Roberts Syndrome |
|
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Clinodactyly of the 5th finger, Pho... |
ORPHA:3103 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 2 |
|
Growth delay, Syndactyly, Camptodactyly |
OMIM:616006 |
| Tarp Syndrome |
|
Cerebellar vermis hypoplasia, Single transverse palmar crease, Rocker bottom foot, Postaxial poly... |
OMIM:311900 |
| Degcags Syndrome |
|
Syndactyly, Hepatomegaly, Toe syndactyly, Hypopigmentation of the skin, Microcephaly, Short thumb... |
OMIM:619488 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Cerebellar vermis hypoplasia, Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5... |
OMIM:274000 |
| Oculocerebrocutaneous Syndrome |
|
Finger syndactyly, Congenital hip dislocation, Aplasia/Hypoplasia of the distal phalanges of the ... |
ORPHA:1647 |
| Trichohepatoenteric Syndrome 1 |
|
Large placenta, Abnormalities of placenta or umbilical cord, Polyhydramnios |
OMIM:222470 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Hepatomegaly, Bowing of the long bones, Splenomegaly, Growth delay, Abnormal epiphysis morphology... |
ORPHA:667 |
| Autosomal Recessive Spondylocostal Dysostosis |
|
Finger syndactyly, Short stature, Camptodactyly of finger, Microcephaly, Meningocele, Macrocephal... |
ORPHA:2311 |
| Plummer-Vinson Syndrome |
|
Pallor |
ORPHA:54028 |
| Opitz-Kaveggia Syndrome |
|
Relative macrocephaly, Syndactyly, Broad hallux, Single transverse palmar crease, Facial wrinklin... |
OMIM:305450 |
| Pili Torti-Onychodysplasia Syndrome |
|
Palmoplantar keratoderma, Dry skin, Cutaneous syndactyly |
ORPHA:2890 |
| Rhombencephalosynapsis |
|
Finger syndactyly, Septo-optic dysplasia, Agenesis of cerebellar vermis, Polydactyly, Macrocephal... |
ORPHA:59315 |
| Childhood Absence Epilepsy |
|
Pallor |
ORPHA:64280 |
| Fanconi Anemia, Complementation Group F |
|
Short stature, Microcephaly, Absent thumb, Short thumb, Hypoplasia of the radius, 2-3 finger synd... |
OMIM:603467 |
| Long Qt Syndrome 8 |
|
Syndactyly |
OMIM:618447 |
| Pfeiffer Syndrome Type 2 |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short hallux, Hallux varus, Small hand, ... |
ORPHA:93259 |
| Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome |
|
Finger syndactyly, Toe syndactyly, Elbow dislocation, Aplasia/Hypoplasia of the phalanges of the ... |
ORPHA:1112 |
| Orofaciodigital Syndrome Type 6 |
|
Syndactyly, Mesoaxial polydactyly, Cerebellar vermis hypoplasia, Short stature, Central Y-shaped ... |
ORPHA:2754 |
| Acrocardiofacial Syndrome |
|
Hallux valgus, Finger syndactyly, Toe syndactyly, Camptodactyly of finger, Split hand, Split foot... |
ORPHA:2008 |
| Pearson Marrow-Pancreas Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Erythema, Macronodular cirrhosi... |
OMIM:557000 |
| Ring Chromosome 12 Syndrome |
|
Syndactyly, Microcephaly, Abnormal 5th finger morphology, Symphalangism of the thumb, Clinodactyly |
ORPHA:1439 |
| Waldenström Macroglobulinemia |
|
Splenomegaly, Hepatomegaly, Pallor, Purpura |
ORPHA:33226 |
| Curry-Jones Syndrome |
|
Duplication of thumb phalanx, Megalencephaly, Preaxial hand polydactyly, 2-3 finger syndactyly, H... |
OMIM:601707 |
| Teebi Hypertelorism Syndrome 2 |
|
Clinodactyly of the 5th finger, Syndactyly |
OMIM:619736 |
| Blepharocheilodontic Syndrome 2 |
|
Cutaneous syndactyly |
OMIM:617681 |
| Beta-Ketothiolase Deficiency |
|
Hepatomegaly, Pallor |
ORPHA:134 |
| Blepharonasofacial Malformation Syndrome |
|
Finger syndactyly, Redundant skin |
ORPHA:1252 |
| Ritscher-Schinzel Syndrome 1 |
|
Syndactyly, Dandy-Walker malformation, Intrauterine growth retardation |
OMIM:220210 |
| Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Long toe, Mesenteric cyst, Overlapping toe, Long fingers, Cutaneous syndactyly, Macrocephaly, Ove... |
OMIM:618316 |
| Blepharocheilodontic Syndrome 1 |
|
Neural tube defect, Clinodactyly, Cutaneous syndactyly |
OMIM:119580 |
| Kury-Isidor Syndrome |
|
Finger syndactyly, Rocker bottom foot, Proximal placement of thumb, Growth delay, Hip dysplasia, ... |
OMIM:619762 |
| Leukodystrophy, Hypomyelinating, 13 |
|
Prolonged brainstem auditory evoked potentials, Optic atrophy |
OMIM:616881 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Finger syndactyly, Overlapping toe, Single transverse palmar crease, Microcephaly, Deviation of t... |
ORPHA:464738 |
| Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Syndactyly, Short stature, Abnormality of the hand, Camptodactyly, Umbilical hernia, Clinodactyly |
ORPHA:369891 |
| Apert Syndrome |
|
Syndactyly, Finger syndactyly, Absent septum pellucidum, Limited elbow movement, Megalencephaly, ... |
OMIM:101200 |
| Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome |
|
2-3 finger syndactyly |
ORPHA:1338 |
| Cri-Du-Chat Syndrome |
|
Syndactyly, Short metacarpal, Single transverse palmar crease, Microcephaly, Metatarsus adductus,... |
OMIM:123450 |
| Arthrogryposis, Distal, Type 2A |
|
Abnormal auditory evoked potentials, Hearing impairment |
OMIM:193700 |
| Focal Dermal Hypoplasia |
|
Acute hepatic failure, Finger syndactyly, Toe syndactyly, Abnormal palmar dermatoglyphics, Campto... |
ORPHA:2092 |
| Adams-Oliver Syndrome 5 |
|
Syndactyly, Portal vein thrombosis, Splenomegaly, Hypersplenism, Umbilical hernia, Brachydactyly |
OMIM:616028 |
| Duane-Radial Ray Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Radial deviation of the hand, Sandal gap, Short humerus, Abse... |
OMIM:607323 |
| Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Growth delay, Anemic pallor |
ORPHA:329971 |
| Idiopathic Hypereosinophilic Syndrome |
|
Elevated hepatic transaminase, Swelling of proximal interphalangeal joints, Cholangitis, Splenome... |
ORPHA:3260 |
| White Forelock With Malformations |
|
Clinodactyly of the 5th finger, Finger syndactyly, Spina bifida occulta |
ORPHA:2475 |
| Acro-Renal-Ocular Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Abnormal morphol... |
ORPHA:959 |
| Fg Syndrome Type 1 |
|
Finger syndactyly, Limited elbow extension and supination, Broad toe, Short stature, Single trans... |
ORPHA:93932 |
| Prader-Willi Syndrome |
|
Syndactyly, Short stature, Acromicria, Small hand, Narrow palm, Genu valgum, Short foot, Hip dysp... |
OMIM:176270 |
| Incontinentia Pigmenti |
|
Finger syndactyly, Short stature, Camptodactyly of finger, Abnormal hand morphology, Erythema, Ab... |
ORPHA:464 |
| Restrictive Dermopathy 1 |
|
Spontaneous chorioamniotic separation, Decreased fetal movement, Premature birth, Polyhydramnios,... |
OMIM:275210 |
| Postaxial Acrofacial Dysostosis |
|
Hypoplasia of the ulna, Finger syndactyly, Camptodactyly of finger, Hypoplasia of the radius |
ORPHA:246 |
| Acromelic Frontonasal Dysostosis |
|
Tubulonodular pericallosal lipoma, Syndactyly, Optic nerve hypoplasia, Preaxial polydactyly, Prea... |
OMIM:603671 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Pallor |
ORPHA:276621 |
| Cockayne Syndrome Type 1 |
|
Absent brainstem auditory responses, Optic atrophy, Anemia, Macrotia, Abnormality of peripheral n... |
ORPHA:90321 |
| Larsen Syndrome |
|
Finger syndactyly, Accessory carpal bones, Abnormal epiphysis morphology, Broad distal phalanx of... |
ORPHA:503 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Splenomegaly, Hepatomegaly, Pallor |
ORPHA:98849 |
| Cutis Marmorata Telangiectatica Congenita |
|
Finger syndactyly, Toe syndactyly, Abnormality of the upper limb, Multiple cafe-au-lait spots, In... |
ORPHA:1556 |
| Orofaciodigital Syndrome I |
|
Syndactyly, Short stature, Abnormal cortical gyration, Microcephaly, Pancreatic cysts, Myelomenin... |
OMIM:311200 |
| Acro-Renal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Split hand, Hypoplasia of the ra... |
ORPHA:958 |
| Cerebrofacioarticular Syndrome |
|
Syndactyly, Cerebellar vermis hypoplasia, Microcephaly, Dysplastic corpus callosum, Talipes equin... |
ORPHA:314679 |
| Blepharo-Cheilo-Odontic Syndrome |
|
Finger syndactyly |
ORPHA:1997 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Orthostatic hypotension, EEG with generalized slow activity, Abnormal auditory evoked potentials,... |
ORPHA:99027 |
| Meckel Syndrome, Type 1 |
|
Occipital encephalocele, Asplenia, Agenesis of corpus callosum, Dandy-Walker malformation, Access... |
OMIM:249000 |
| Pituitary Apoplexy |
|
Abnormal caudate nucleus morphology, Pallor |
ORPHA:95613 |
| Cranioectodermal Dysplasia 2 |
|
Elevated hepatic transaminase, Syndactyly, Hepatomegaly, Rhizomelia, Cholangitis, Short stature, ... |
OMIM:613610 |
| Infantile Krabbe Disease |
|
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Optic atroph... |
ORPHA:206436 |
| Limb-Mammary Syndrome |
|
Syndactyly, Toe syndactyly, 3-4 finger cutaneous syndactyly, Multiple cafe-au-lait spots, Clinoda... |
ORPHA:69085 |
| Castleman Disease |
|
Decreased mean corpuscular volume, Thrombocytopenia, Anemia |
ORPHA:160 |
| Aregenerative Anemia |
|
Pallor |
ORPHA:101096 |
| Charcot-Marie-Tooth Disease Type 1F |
|
Decreased nerve conduction velocity, Absent brainstem auditory responses, Sensorineural hearing i... |
ORPHA:101085 |
| Imerslund-Gräsbeck Syndrome |
|
Pallor |
ORPHA:35858 |
| Pfeiffer Syndrome Type 3 |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short hallux, Hallux varus, Small hand, ... |
ORPHA:93260 |
| Poland Syndrome |
|
Encephalocele, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Abnormal morphology of ulna, A... |
ORPHA:2911 |
| Vacterl/Vater Association |
|
Finger syndactyly, Occipital encephalocele, Preaxial hand polydactyly, Abnormality of the pancrea... |
ORPHA:887 |
| Grange Syndrome |
|
Finger clinodactyly, Syndactyly, Brachydactyly |
OMIM:602531 |
| Orofaciodigital Syndrome Type 1 |
|
Elevated hepatic transaminase, Finger syndactyly, Tarsal synostosis, Pancreatic cysts, Preaxial h... |
ORPHA:2750 |
| Yunis-Varon Syndrome |
|
Aplasia of the distal phalanges of the hand, Redundant neck skin, Single transverse palmar crease... |
ORPHA:3472 |
| Teebi-Shaltout Syndrome |
|
Syndactyly, Ulnar deviation of the hand, Single transverse palmar crease, Rocker bottom foot, Mic... |
OMIM:272950 |
| Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities |
|
Syndactyly, Hypermelanotic macule, Broad palm, Clinodactyly of the 5th finger, Cafe-au-lait spot |
OMIM:618505 |
| Bardet-Biedl Syndrome 1 |
|
Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Biliary tract abnormality, Postaxi... |
OMIM:209900 |
| Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, Aganglionic megacolon, Short-segment aganglionic megacolon, ... |
OMIM:609136 |
| Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Finger syndactyly, Short stature, Melanocytic nevus, Multiple cafe-au-lait spots, Generalized hyp... |
ORPHA:1969 |
| Eisenmenger Syndrome |
|
Iron deficiency anemia, Increased mean corpuscular volume, Hypochromic microcytic anemia |
ORPHA:97214 |
| Fanconi Anemia |
|
Abnormal femur morphology, Abnormality of skin pigmentation, Abnormality of the liver, Triphalang... |
ORPHA:84 |
| Adenohypophysitis |
|
Pallor |
ORPHA:95512 |
| Adult Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, EEG abnormality |
ORPHA:206448 |
| Cantú Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Short hallux, Coxa valga, Macrocephaly, Umbilical hernia... |
ORPHA:1517 |
| Bardet-Biedl Syndrome |
|
Finger syndactyly, Postaxial hand polydactyly, Hepatic fibrosis, Short stature |
ORPHA:110 |
| Oculodentodigital Dysplasia |
|
Finger syndactyly, Toe syndactyly, Cerebral calcification, Camptodactyly of finger, Short hallux,... |
ORPHA:2710 |
| Moebius Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Abnormal morphology of ulna, A... |
ORPHA:570 |
| Pallister-Hall Syndrome |
|
Syndactyly, Mesoaxial foot polydactyly, Toe syndactyly, Mesoaxial hand polydactyly, Short stature... |
OMIM:146510 |
| Hypoglossia-Hypodactyly Syndrome |
|
Finger syndactyly, Brachydactyly, Adactyly, Split hand, Aplasia/Hypoplasia of fingers, Upper limb... |
ORPHA:989 |
| Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Relative macrocephaly, Syndactyly, Narrow joint spaces of the elbow, Postnatal growth retardation... |
ORPHA:96182 |
| Mogs-Cdg |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Hepatosplen... |
ORPHA:79330 |
| Prolactinoma |
|
Pallor, Delayed puberty |
ORPHA:2965 |
| 3C Syndrome |
|
Finger syndactyly, Short stature, Postnatal growth retardation, Hand polydactyly, Abnormal hip bo... |
ORPHA:7 |
| Non-Functioning Pituitary Adenoma |
|
Pallor |
ORPHA:91349 |
| Acrofacial Dysostosis, Palagonia Type |
|
Finger syndactyly, Short stature, Small hand, Spina bifida occulta, Short 4th metacarpal |
ORPHA:1787 |
| Microphthalmia, Lenz Type |
|
Finger syndactyly, Camptodactyly of finger, Microcephaly, Aplasia/Hypoplasia of the corpus callos... |
ORPHA:568 |
| Monosomy 13Q14 |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Short stature, Microcephaly, Hypoplasia of th... |
ORPHA:1587 |
| Hereditary Acrokeratotic Poikiloderma |
|
Finger syndactyly, Short stature, Camptodactyly of finger, Erythema, Hypopigmented skin patches, ... |
ORPHA:2907 |
| Panhypophysitis |
|
Pallor |
ORPHA:95513 |
| Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Syndactyly, Cerebellar vermis hypoplasia, Short stature, Microcephaly, Hypoplasia of the pons, Hy... |
OMIM:616975 |
| Meckel Syndrome 14 |
|
Syndactyly, Bowing of the long bones, Occipital encephalocele, Postaxial polydactyly, Postaxial h... |
OMIM:619879 |
| Kbg Syndrome |
|
Syndactyly, Single transverse palmar crease, Microcephaly, Cutaneous syndactyly, Radial deviation... |
OMIM:148050 |
| Sheehan Syndrome |
|
Dry skin, Pallor |
ORPHA:91355 |
| Bartsocas-Papas Syndrome 1 |
|
Syndactyly, Short metacarpal, Hypoplastic scapulae, Absent thumb, Absent radius, Short thumb, Uln... |
OMIM:263650 |
| Hereditary Pheochromocytoma-Paraganglioma |
|
Pallor |
ORPHA:29072 |
| Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Agenesis of corpus callosum, Pallor |
ORPHA:137675 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Finger syndactyly, Severe short stature, Redundant skin, Aplastic clavicle, Absent septum pelluci... |
ORPHA:2658 |
| Esophageal Atresia |
|
Growth delay, Clinodactyly, Pallor |
ORPHA:1199 |
| Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Syndactyly, Polymicrogyria, Umbilical hernia |
OMIM:614520 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Microcephaly, Pachygyria, Aplasia/Hypoplasia of the corpus callosum, Hypoplasia of the brainstem,... |
OMIM:253280 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Syndactyly, Hepatomegaly, Mild postnatal growth retardation, Splenomegaly, Prolonged neonatal jau... |
OMIM:224120 |
| Eec Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Short stature, Proximal place... |
ORPHA:1896 |
| Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Finger syndactyly, Severe short stature, Arachnodactyly, Long palm, Camptodactyly of finger, Tape... |
ORPHA:2215 |
| Choroidal Atrophy-Alopecia Syndrome |
|
Finger syndactyly |
ORPHA:1433 |
| X Small Rings |
|
Toe syndactyly, Tapered finger, 2-3 toe syndactyly, Upper limb undergrowth, Cutaneous syndactyly,... |
ORPHA:96201 |
| Acrocallosal Syndrome |
|
Finger syndactyly, Toe syndactyly, Duplication of thumb phalanx, Tapered finger, Bifid distal pha... |
OMIM:200990 |
| Trisomy 10P |
|
Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG with burst suppression, Low vo... |
ORPHA:171929 |
| Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Encephalocele, Finger syndactyly, Broad hallux phalanx, Abnormal cortical gyration, Preaxial hand... |
ORPHA:2211 |
| Beckwith-Wiedemann Syndrome |
|
Premature birth, Polyhydramnios, Large placenta, Subchorionic septal cyst, Umbilical hernia |
ORPHA:116 |
| Postaxial Acrofacial Dysostosis |
|
Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Postnatal growth retardation, Sho... |
OMIM:263750 |
| Jacobsen Syndrome |
|
Broad hallux phalanx, Finger syndactyly, Toe syndactyly, Short stature, Spina bifida, Short toe, ... |
ORPHA:2308 |
| Combined Oxidative Phosphorylation Deficiency 25 |
|
Hypoplasia of the pons, Syndactyly, Short stature, Cerebral atrophy |
OMIM:616430 |
| Rapp-Hodgkin Syndrome |
|
Syndactyly, Short stature, 2-3 toe cutaneous syndactyly, Palmoplantar keratoderma, Dry skin |
OMIM:129400 |
| Tarp Syndrome |
|
Finger syndactyly, Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Hy... |
ORPHA:2886 |
| Hamamy Syndrome |
|
Long toe, Syndactyly, Down-sloping shoulders, Tapered finger, Long fingers, Hip dysplasia, Clinod... |
OMIM:611174 |
| Multiple Pterygium Syndrome, Escobar Variant |
|
Syndactyly, Arachnodactyly, Rocker bottom foot, Down-sloping shoulders, Short stature, Patellar a... |
OMIM:265000 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Large placenta, Premature birth, Polyhydramnios, Spinal dysraphism |
ORPHA:96334 |
| Autosomal Recessive Robinow Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Bilateral single transverse palmar creas... |
ORPHA:1507 |
| Yunis-Varon Syndrome |
|
Congenital hip dislocation, Redundant neck skin, Single transverse palmar crease, Cerebellar verm... |
OMIM:216340 |
| Cerebrotendinous Xanthomatosis |
|
Optic disc pallor, Abnormal auditory evoked potentials, Optic neuropathy, Decreased nerve conduct... |
ORPHA:909 |
| Alternating Hemiplegia Of Childhood |
|
Pallor |
ORPHA:2131 |
| Smith-Lemli-Opitz Syndrome |
|
Proximal placement of thumb, Biparietal narrowing, Aplasia/Hypoplasia of the cerebellum, Finger s... |
ORPHA:818 |
| Sclerosteosis 1 |
|
Syndactyly, 2-3 finger syndactyly, Deviation of finger, Abnormal pelvic girdle bone morphology, C... |
OMIM:269500 |
| Autosomal Recessive Multiple Pterygium Syndrome |
|
Finger syndactyly, Short stature, Camptodactyly of finger, Microcephaly, Symphalangism affecting ... |
ORPHA:2990 |
| Robinow Syndrome, Autosomal Dominant 3 |
|
Syndactyly, Short stature, Macrocephaly, Mesomelia, Camptodactyly, Clinodactyly, Short phalanx of... |
OMIM:616894 |
| Chromosome 8Q21.11 Deletion Syndrome |
|
Syndactyly, Short metacarpal, Growth delay, Hypoplasia of the corpus callosum, Camptodactyly, Abs... |
OMIM:614230 |
| Rubinstein-Taybi Syndrome 1 |
|
Single transverse palmar crease, Hepatic hemangioma, Hypoplastic iliac wing, Prominent fingertip ... |
OMIM:180849 |
| Orofaciodigital Syndrome Type 2 |
|
Finger syndactyly, Broad hallux, Short tibia, Adactyly, Broad first metatarsal, Postaxial hand po... |
ORPHA:2751 |
| Saethre-Chotzen Syndrome |
|
Hallux valgus, Finger syndactyly, Proximal radio-ulnar synostosis, Brachydactyly, Short stature, ... |
ORPHA:794 |
| 14Q22Q23 Microdeletion Syndrome |
|
Finger syndactyly, Toe syndactyly, Short foot, Agenesis of corpus callosum, Short palm, Clinodact... |
ORPHA:264200 |
| Simpson-Golabi-Behmel Syndrome |
|
Finger syndactyly, Hepatomegaly, Congenital hip dislocation, Toe syndactyly, Camptodactyly of fin... |
ORPHA:373 |
| Apert Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Absent septum pellucidum, Mic... |
ORPHA:87 |
| Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures |
|
Optic nerve hypoplasia, Postnatal growth retardation, 2-3 toe cutaneous syndactyly, 3-4 finger cu... |
OMIM:620029 |
| Von Hippel-Lindau Disease |
|
Neoplasm of the pancreas, Pancreatic islet cell adenoma, Pallor, Pancreatic cysts |
ORPHA:892 |
| Cockayne Syndrome B |
|
Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased nerve conduction veloci... |
OMIM:133540 |
| Cockayne Syndrome A |
|
Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased nerve conduction veloci... |
OMIM:216400 |
| Roberts-Sc Phocomelia Syndrome |
|
Tetraphocomelia, Phocomelia, Wrist flexion contracture, Accessory spleen, Syndactyly, Hypoplasia ... |
OMIM:268300 |
| Peters-Plus Syndrome |
|
Single transverse palmar crease, Limited elbow movement, Proximal placement of thumb, Bilobate ga... |
OMIM:261540 |
| Multiple Endocrine Neoplasia Type 2 |
|
Neoplasm of the liver, Pallor |
ORPHA:653 |
| 8Q21.11 Microdeletion Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Aplasia/Hypoplasia of the corpus callosum, Abnormal m... |
ORPHA:284160 |
| Neurocardiofaciodigital Syndrome |
|
Syndactyly, Cerebellar vermis hypoplasia, Microcephaly, Polydactyly, Hypoplasia of the corpus cal... |
OMIM:619869 |
| Dubowitz Syndrome |
|
Syndactyly, Short stature, Single transverse palmar crease, Microcephaly, Postnatal growth retard... |
OMIM:223370 |
| Orofaciodigital Syndrome Type 4 |
|
Finger syndactyly, Severe short stature, Camptodactyly of finger, Micromelia, Microcephaly, Preax... |
ORPHA:2753 |
| Monosomy 22 |
|
Finger syndactyly, Single transverse palmar crease, Microcephaly, Clubbing, Hepatosplenomegaly, C... |
ORPHA:96123 |
| Mckusick-Kaufman Syndrome |
|
Finger syndactyly, Tarsal synostosis, Postaxial hand polydactyly, Postaxial foot polydactyly, Abn... |
ORPHA:2473 |
| Tsh-Secreting Pituitary Adenoma |
|
Pallor, Delayed puberty |
ORPHA:91347 |
| Trisomy 20P |
|
Finger syndactyly, Camptodactyly of finger, Spina bifida, Preaxial hand polydactyly, Abnormal hip... |
ORPHA:261318 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Pancreatitis, Pallor |
ORPHA:544482 |
| Fontaine Progeroid Syndrome |
|
Syndactyly, Dermal translucency, Cerebellar vermis hypoplasia, Short stature, Redundant skin, Mic... |
OMIM:612289 |
| Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Cubitus valgus, Syndactyly, Congenital hip dislocation, Umbilical hernia |
OMIM:104350 |
| Townes-Brocks Syndrome 1 |
|
2-4 finger syndactyly, Pseudoepiphyses of second metacarpal, 1-2 toe syndactyly, Microcephaly, Pr... |
OMIM:107480 |
| Trichorhinophalangeal Syndrome, Type Ii |
|
Syndactyly, Short metacarpal, Scapular winging, Mild postnatal growth retardation, Single transve... |
OMIM:150230 |
| Timothy Syndrome |
|
Cutaneous syndactyly |
OMIM:601005 |
| Faciodigitogenital Syndrome, Autosomal Recessive |
|
Syndactyly, Down-sloping shoulders, Proportionate short stature, Metatarsus adductus, Broad palm,... |
OMIM:227330 |
| Autosomal Dominant Popliteal Pterygium Syndrome |
|
Finger syndactyly, Toe syndactyly, Split hand |
ORPHA:1300 |
| Autosomal Dominant Robinow Syndrome |
|
Finger syndactyly, Severe short stature, Short stature, Camptodactyly of finger, Micromelia, Coxa... |
ORPHA:3107 |
| Constricting Bands, Congenital |
|
Syndactyly, Hand polydactyly, Talipes equinovarus |
OMIM:217100 |
| Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Finger syndactyly, Toe syndactyly, Palmoplantar hyperkeratosis, Bilateral single transverse palma... |
ORPHA:3253 |
| Mend Syndrome |
|
Abnormal auditory evoked potentials, Low-set ears |
ORPHA:401973 |
| Vater/Vacterl Association |
|
Syndactyly, Occipital encephalocele, Spina bifida, Absent radius, Short thumb, Postnatal growth r... |
OMIM:192350 |
| Loeys-Dietz Syndrome 2 |
|
Syndactyly, Dermal translucency, Arachnodactyly, Protrusio acetabuli, Postaxial polydactyly, Abse... |
OMIM:610168 |
| Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Finger syndactyly, Hepatomegaly, Optic nerve hypoplasia, 2-3 toe syndactyly, Talipes equinovarus,... |
OMIM:620025 |
| Microphthalmia, Syndromic 6 |
|
Finger syndactyly, Thumb contracture, Toe syndactyly, Single transverse palmar crease, Abnormalit... |
OMIM:607932 |
| Robinow Syndrome |
|
Syndactyly, Brachydactyly, Short stature, Bifid distal phalanx of the thumb, Mesomelic arm shorte... |
ORPHA:97360 |
| Kindler Epidermolysis Bullosa |
|
Finger syndactyly, Camptodactyly of finger, Erythema, Abnormality of skin pigmentation, Palmoplan... |
ORPHA:2908 |
| Hartsfield Syndrome |
|
Syndactyly, Agenesis of corpus callosum, Ectrodactyly, Microcephaly |
OMIM:615465 |
| Scalp-Ear-Nipple Syndrome |
|
Finger syndactyly, Short stature, 3-4 finger cutaneous syndactyly, 2-3 toe syndactyly, Clinodacty... |
OMIM:181270 |
| Saethre-Chotzen Syndrome |
|
Hallux valgus, Syndactyly, Absent first metatarsal, Toe syndactyly, Partial duplication of the di... |
OMIM:101400 |
| Proteus Syndrome |
|
Hallux valgus, Finger syndactyly, Generalized hyperpigmentation, Macrodactyly, Metatarsus valgus,... |
ORPHA:744 |
| Mckusick-Kaufman Syndrome |
|
Syndactyly, Postaxial hand polydactyly, Congenital hip dislocation, Mesoaxial hand polydactyly |
OMIM:236700 |
| Genitourinary And/Or Brain Malformation Syndrome |
|
Syndactyly, Absent septum pellucidum, Dysplastic corpus callosum, Secondary microcephaly, Macroce... |
OMIM:618820 |
| Autosomal Recessive Faciodigitogenital Syndrome |
|
Finger syndactyly, Short stature, Down-sloping shoulders, Short foot, Clinodactyly of the 5th fin... |
ORPHA:1974 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Syndactyly, Broad hallux, Deviation of the hallux, Short stature, Avascular necrosis of the capit... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Syndactyly, Broad hallux, Deviation of the hallux, Short stature, Avascular necrosis of the capit... |
ORPHA:353277 |
| Lacrimoauriculodentodigital Syndrome |
|
Syndactyly, Finger syndactyly, Toe syndactyly, Duplication of thumb phalanx, Absent thumb, Abnorm... |
ORPHA:2363 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Hepatic fibrosis, Intrahepatic bile duct dilatation, Syndactyly, Hepatomegaly, Short stature, Ele... |
OMIM:619534 |
| Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Few cafe-au-lait spots, Cerebellar vermis hypoplasia, Sandal gap, Optic nerve hypoplasia, Microce... |
OMIM:620330 |
| Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Syndactyly, Unilateral brachydactyly, Aplasia/Hypoplasia involving the shoulder musculature |
ORPHA:1521 |
| Doors Syndrome |
|
Aplasia/Hypoplasia of the phalanges of the 2nd toe, Microcephaly, Abnormal toe morphology, Abnorm... |
ORPHA:79500 |
| Coffin-Siris Syndrome 12 |
|
Elevated hepatic transaminase, Short stature, Microcephaly, Short thumb, Slender finger, Cutaneou... |
OMIM:619325 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Clinodactyly of the 5th finger, Finger syndactyly, Generalized hyperpigmentation, Palmoplantar ke... |
ORPHA:1071 |
| Fraser Syndrome 3 |
|
Short toe, Cutaneous syndactyly |
OMIM:617667 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Cerebellar vermis hypoplasia, Asplenia, Calcaneovalgus deformity, Large basal ganglia, Agenesis o... |
ORPHA:261537 |
| Hennekam Syndrome |
|
Finger syndactyly, Mild postnatal growth retardation, Camptodactyly of finger, Splenomegaly, Pach... |
ORPHA:2136 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Cerebellar vermis hypoplasia, Asplenia, Calcaneovalgus deformity, Large basal ganglia, Agenesis o... |
ORPHA:261552 |
| Goodpasture Syndrome |
|
Pallor |
OMIM:233450 |
| Specc1L-Related Hypertelorism Syndrome |
|
Finger syndactyly, Short toe, Clinodactyly of the 5th finger, Umbilical hernia, Brachydactyly |
ORPHA:1519 |
| Mowat-Wilson Syndrome |
|
Cerebellar vermis hypoplasia, Asplenia, Calcaneovalgus deformity, Large basal ganglia, Agenesis o... |
ORPHA:2152 |
| Deafness, Autosomal Recessive 1A |
|
Sensorineural hearing impairment |
OMIM:220290 |
| Fraser Syndrome |
|
Encephalocele, Finger syndactyly, Toe syndactyly, Microcephaly, Myelomeningocele, Umbilical herni... |
ORPHA:2052 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Hepatomegaly, Pallor |
ORPHA:99125 |
| Fraser Syndrome 2 |
|
Cutaneous syndactyly |
OMIM:617666 |
| Microphthalmia, Syndromic 1 |
|
Syndactyly, Abnormal palmar dermatoglyphics, Down-sloping shoulders, Microcephaly, Growth delay, ... |
OMIM:309800 |
