| Congenital Radioulnar Synostosis |
|
Dislocated radial head, Abnormal morphology of the radius, Radioulnar synostosis, Congenital hip ... |
ORPHA:3269 |
| Deafness, Autosomal Recessive 109 |
|
Morphological abnormality of the semicircular canal, Congenital sensorineural hearing impairment |
OMIM:618013 |
| Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
|
Sensorineural hearing impairment, Incomplete partition of the cochlea type II, Enlarged vestibula... |
OMIM:600791 |
| Deafness, X-Linked 6 |
|
Hearing impairment, Cochlear malformation |
OMIM:300914 |
| Metaphyseal Anadysplasia |
|
Abnormality of epiphysis morphology, Bowing of the long bones, Aplasia/Hypoplasia of the radius, ... |
ORPHA:1040 |
| Ulnar Hypoplasia |
|
Radial bowing, Distal ulnar hypoplasia, Hypoplasia of the radius, Mesomelic arm shortening, Radia... |
OMIM:191440 |
| Retinal Dysplasia, Primary |
|
Retinal dysplasia, Falciform retinal fold |
OMIM:312550 |
| Auditory Neuropathy, Autosomal Dominant, 1 |
|
Absence of acoustic reflex, Abnormal auditory evoked potentials, Sensorineural hearing impairment... |
OMIM:609129 |
| Symbrachydactyly Of Hands And Feet |
|
Aplasia/Hypoplasia of the radius, Aplasia/Hypoplasia of the thumb, Abnormality of the humerus, Ab... |
ORPHA:1570 |
| Opticocochleodentate Degeneration |
|
Hearing impairment, Optic atrophy, Cochlear degeneration, Spastic tetraplegia |
OMIM:258700 |
| Cochleosaccular Degeneration-Cataract Syndrome |
|
Progressive sensorineural hearing impairment, Cochlear degeneration, Ataxia |
ORPHA:3233 |
| Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex |
OMIM:601071 |
| Spinocerebellar Ataxia, Autosomal Recessive 3 |
|
Hearing impairment, Cochlear degeneration, Ataxia |
OMIM:271250 |
| Ring Chromosome 4 Syndrome |
|
Split hand, Abnormality of the upper limb, Aplasia/Hypoplasia of the radius, Abnormality of the ulna |
ORPHA:1447 |
| Deafness, Autosomal Dominant 80 |
|
Dilated vestibule of the inner ear, Cochlear aplasia, Morphological abnormality of the semicircul... |
OMIM:619274 |
| Langer Mesomelic Dysplasia |
|
Radial bowing, Hypoplasia of the radius, Rudimentary fibula, Madelung deformity, Hypoplasia of th... |
OMIM:249700 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Abnormality of tibia morphology, Bowing of the long bones, Splenomegaly, Anemia, Abnormality of f... |
ORPHA:1802 |
| Upper Limb Mesomelic Dysplasia |
|
Radial bowing, Hypoplasia of the ulna, Ulnar deviation of finger |
ORPHA:2497 |
| Acromesomelic Dysplasia, Hunter-Thompson Type |
|
Radial bowing, Hypoplasia of the radius, Elbow dislocation, Abnormally shaped carpal bones, Hypop... |
OMIM:201250 |
| Mohr-Tranebjaerg Syndrome |
|
Inability to walk, Tremor, Apraxia, Dystonia, Vestibular dysfunction, Attention deficit hyperacti... |
ORPHA:52368 |
| Fetal Cytomegalovirus Syndrome |
|
Hepatomegaly, Anemia, Splenomegaly |
ORPHA:294 |
| Femur-Fibula-Ulna Complex |
|
Humeroradial synostosis, Finger syndactyly, Split hand, Abnormality of the elbow, Short humerus, ... |
ORPHA:2019 |
| Postaxial Oligodactyly, Tetramelic |
|
Radial bowing, Postaxial hand polydactyly, Cone-shaped epiphysis, Lunate-triquetral fusion, Posta... |
OMIM:176240 |
| Distal Monosomy 10Q |
|
Craniosynostosis, Poor fine motor coordination, Postnatal growth retardation, Spina bifida occult... |
ORPHA:96148 |
| Benign Paroxysmal Torticollis Of Infancy |
|
Abnormal head movements, Torticollis, Vertigo, Ataxia |
ORPHA:71518 |
| Pendred Syndrome |
|
Hypoplasia of the cochlea, Vertigo, Ataxia, Enlarged vestibular aqueduct, Sensorineural hearing i... |
ORPHA:705 |
| Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction |
|
Progressive sensorineural hearing impairment, Slowed slurred speech, Cochlear degeneration, Ataxia |
OMIM:172500 |
| Spondylometaphyseal Dysplasia, Axial |
|
Proximal femoral metaphyseal irregularity, Rhizomelia, Retinal degeneration, Coxa vara, Narrow gr... |
OMIM:602271 |
| Léri-Weill Dyschondrosteosis |
|
Limited wrist movement, Abnormality of tibia morphology, Dorsal subluxation of ulna, Elbow disloc... |
ORPHA:240 |
| Fibular Aplasia-Ectrodactyly Syndrome |
|
Split hand, Aplasia/Hypoplasia of the fibula, Abnormality of the ulna |
ORPHA:1118 |
| Deafness, Autosomal Dominant 9 |
|
Vertigo, Cochlear degeneration, Abnormality of the vestibulocochlear nerve, Tinnitus, Postlingual... |
OMIM:601369 |
| Arms, Malformation Of |
|
Hypoplasia of the radius, Radioulnar synostosis, Hypoplasia of the ulna |
OMIM:107900 |
| Robin Sequence-Oligodactyly Syndrome |
|
Abnormality of the metacarpal bones, Clinodactyly of the 5th finger, Hand oligodactyly, Abnormali... |
ORPHA:3104 |
| Pendred Syndrome |
|
Cochlear malformation, Vestibular dysfunction, Congenital sensorineural hearing impairment |
OMIM:274600 |
| Ulnar Hemimelia |
|
Radial club hand, Short forearm, Duplication of phalanx of 3rd finger, Aplasia of the 4th finger,... |
ORPHA:93320 |
| Liberfarb Syndrome |
|
Retinal pigment epithelial mottling, Retinal degeneration, Delayed epiphyseal ossification, Metap... |
OMIM:618889 |
| Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Hepatomegaly, Splenomegaly |
ORPHA:2274 |
| Leri-Weill Dyschondrosteosis |
|
Radial bowing, Limited wrist movement, Hypoplasia of the radius, Short 4th metacarpal, Abnormal m... |
OMIM:127300 |
| Brachydactyly-Elbow Wrist Dysplasia Syndrome |
|
Synostosis of carpal bones, Elbow dislocation, Aplasia/Hypoplasia of the radius, Abnormality of t... |
ORPHA:1275 |
| Insulin-Like Growth Factor I Deficiency |
|
Sensorineural hearing impairment, Short stature, Hyperactivity, Intrauterine growth retardation, ... |
OMIM:608747 |
| Leri-Weill dyschondrostosis (LWD) - SHOX deletion |
|
Radial bowing, Madelung deformity, Limited pronation/supination of forearm |
DECIPHER:58 |
| Mental Retardation, Autosomal Recessive 39 |
|
Anteverted ears, Macrotia, Short stature, Stereotypy, Hyperactivity, Kyphoscoliosis |
OMIM:615541 |
| Dyschondrosteosis And Nephritis |
|
Radial bowing, Short forearm, Madelung deformity, Short tibia, Ulnar bowing |
OMIM:127350 |
| Usher Syndrome Type 3 |
|
Sensorineural hearing impairment, Abnormal cochlea morphology, Ataxia, Vestibular hypofunction |
ORPHA:231183 |
| Ulnar Hypoplasia-Split Foot Syndrome |
|
Split hand, Split foot, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius |
ORPHA:1122 |
| Glycoprotein Storage Disease |
|
Splenomegaly |
OMIM:232900 |
| Ulnar Hypoplasia With Lobster-Claw Deformity Of Feet |
|
Short finger, Syndactyly, Split foot, Hypoplasia of the ulna |
OMIM:314360 |
| Reticuloendotheliosis, X-Linked |
|
Jaundice, Hepatosplenomegaly, Anemia, Lymphadenopathy |
OMIM:312500 |
| Acheiropodia |
|
Absent hand, Upper limb phocomelia, Abnormality of epiphysis morphology, Aplasia of the ulna, Sho... |
ORPHA:931 |
| Usher Syndrome Type 1 |
|
Sensorineural hearing impairment, Abnormal cochlea morphology, Ataxia, Vestibular hypofunction |
ORPHA:231169 |
| Fraxe Intellectual Disability |
|
Clumsiness, Hyperactivity, Prominent ear helix, Short stature, Recurrent hand flapping, Intrauter... |
ORPHA:100973 |
| Langer Mesomelic Dysplasia |
|
Abnormality of epiphysis morphology, Mesomelic/rhizomelic limb shortening, Bowing of the long bon... |
ORPHA:2632 |
| Brachydactyly Type A1 |
|
Short hallux, Distal symphalangism of hands, Short middle phalanx of finger, Cone-shaped epiphysi... |
ORPHA:93388 |
| Primary Dystonia, Dyt13 Type |
|
Postural tremor, Dystonia, Torsion dystonia, Action tremor, Craniofacial dystonia, Jerky head mov... |
ORPHA:98807 |
| Apert Syndrome |
|
Conductive hearing impairment, Sensorineural hearing impairment, Optic atrophy, Cervical C5/C6 ve... |
ORPHA:87 |
| Ravine Syndrome |
|
Abnormal auditory evoked potentials, Ataxia, Spasticity |
ORPHA:99852 |
| Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy |
OMIM:601382 |
| Deafness, X-Linked 2 |
|
Progressive sensorineural hearing impairment, Stapes ankylosis, Conductive hearing impairment, Mi... |
OMIM:304400 |
| Osebold-Remondini Syndrome |
|
Dysplastic distal radial epiphyses, Hypoplasia of the radius, Decreased finger mobility, Tarsal s... |
OMIM:112910 |
| Episodic Ataxia Type 4 |
|
Vertigo, Incoordination, Ataxia, Abnormal head movements, Frequent falls |
ORPHA:79136 |
| Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome |
|
Stereotypical hand wringing, Hyperkinetic movements, Macrotia |
ORPHA:397933 |
| Deafness-Hypogonadism Syndrome |
|
Progressive sensorineural hearing impairment, Enlarged cochlear aqueduct, Abnormality of the midd... |
ORPHA:90646 |
| Intellectual Developmental Disorder, X-Linked 104 |
|
Tremor, Abnormality of the pinna, Ataxia, Hyperactivity, Optic atrophy, Spasticity |
OMIM:300983 |
| Autosomal Dominant Spastic Ataxia Type 1 |
|
Spastic paraplegia, Tremor, Dystonia, Spastic ataxia, Limb ataxia, Hypertonia, Difficulty walking... |
ORPHA:251282 |
| Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Scoliosis, Arthrogryposis multiplex congenita, Hyperactivity, Kyphosis, Hypertonia, Joint contrac... |
ORPHA:352490 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Radial bowing, Limited elbow extension, Flared iliac wing, Rhizomelia, Metaphyseal cupping, Tibia... |
OMIM:602111 |
| Branchiootic Syndrome 1 |
|
Hypoplasia of the cochlea, Cochlear malformation, Low-set ears, Cupped ear, Sensorineural hearing... |
OMIM:602588 |
| Waardenburg Syndrome, Type 2E |
|
Hypoplasia of the semicircular canal, Hypertonia, Morphological abnormality of the vestibule of t... |
OMIM:611584 |
| Heart-Hand Syndrome Type 2 |
|
Short 4th metacarpal, Hand polydactyly, Hemiatrophy, Abnormality of the elbow, Short 5th metacarp... |
ORPHA:1350 |
| Fragile X Syndrome |
|
Scoliosis, Joint laxity, Macrotia, Hyperactivity, Abnormal head movements |
OMIM:300624 |
| Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Hypoplasia of the semicircular canal, Spastic paraparesis, Long-segment aganglionic megacolon, At... |
OMIM:609136 |
| Apolipoprotein A-I Deficiency |
|
Anemia, Abnormality of the liver, Lymphadenopathy, Splenomegaly |
ORPHA:425 |
| Dextrocardia With Unusual Facies And Microphthalmia |
|
Vertebral fusion, Choreoathetosis, Vertebral segmentation defect, Macrotia |
OMIM:221950 |
| Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Aplasia/Hypoplasia of the 5th finger, Congenital hip dislocation, Femoral bowing, Aplasia/Hypopla... |
OMIM:228930 |
| Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Low-set ears, Hyperactivity |
ORPHA:436151 |
| Fibular Aplasia-Complex Brachydactyly Syndrome |
|
Abnormality of tibia morphology, Abnormal thumb morphology, Tarsal synostosis, Abnormality of epi... |
ORPHA:2639 |
| Chromosome 3Q29 Deletion Syndrome |
|
Gait ataxia, Macrotia, Low-set ears, Posteriorly rotated ears, Stereotypy |
OMIM:609425 |
| Retinoschisis 1, X-Linked, Juvenile |
|
Macular atrophy, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Retinal d... |
OMIM:312700 |
| Hyperlipoproteinemia, Type Id |
|
Hepatomegaly, Lipemia retinalis, Splenomegaly |
OMIM:615947 |
| Abcd Syndrome |
|
Hearing impairment, Abnormal auditory evoked potentials, Aganglionic megacolon |
OMIM:600501 |
| Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Tremor, Gait ataxia, Impaired tactile sensation, Overfolded helix, Thoracic kyphosis, Hypertonia,... |
OMIM:619092 |
| Isolated Klippel-Feil Syndrome |
|
Scoliosis, Spina bifida, Abnormal cranial nerve morphology, Abnormality of the vertebral column, ... |
ORPHA:2345 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Radial bowing, Ulnar bowing, Congenital thrombocytopenia, Syndactyly, Aplastic anemia, Amegakaryo... |
OMIM:605432 |
| Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome |
|
Gait ataxia, Cochlear degeneration, Head tremor, Difficulty walking, Progressive cerebellar ataxi... |
ORPHA:95433 |
| Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal motor evoked potentials, Ataxia, Lower limb spasticity, Abnormal auditory evoked potenti... |
ORPHA:320401 |
| Gorham-Stout Disease |
|
Osteolysis, Abnormal bone ossification, Patchy reduction of bone mineral density, Osteolysis invo... |
ORPHA:73 |
| Mantle Cell Lymphoma |
|
Lymphadenopathy, Splenomegaly |
ORPHA:52416 |
| Lethal Faciocardiomelic Dysplasia |
|
Radial club hand, Hypoplasia of the radius, Hypoplasia of the ulna, Bilateral single transverse p... |
ORPHA:1972 |
| Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia |
|
Lattice retinal degeneration, Rhegmatogenous retinal detachment, Abnormal epiphysis morphology of... |
OMIM:619248 |
| Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Facial palsy, EEG abnormal... |
OMIM:617519 |
| Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Abnormal vertebral morphology, Ataxia, Stereotypy, Hydrocephalus, Attention deficit hyperactivity... |
OMIM:618709 |
| Fibular Hemimelia |
|
Hip subluxation, Bowing of the legs, Abnormality of fibula morphology, Arthralgia of the hip, Ect... |
ORPHA:93323 |
| Chondrodysplasia, Grebe Type |
|
Hypoplasia of the radius, Short femur, Postaxial hand polydactyly, Short phalanx of finger, Hypop... |
OMIM:200700 |
| Mesomelic Dysplasia, Kantaputra Type |
|
Radial bowing, Tarsal synostosis, Mesomelia, Carpal synostosis |
OMIM:156232 |
| Ophthalmomandibulomelic Dysplasia |
|
Radial bowing, Decreased mobility 3rd-5th fingers, Lateral humeral condyle aplasia, Elbow disloca... |
OMIM:164900 |
| Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Hip dysplasia, Type E brachydactyly, Limited elbow extension, Delayed pubic bone ossification, Ab... |
ORPHA:1856 |
| Ulna Metaphyseal Dysplasia Syndrome |
|
Aplasia/Hypoplasia of the radius, Abnormality of the metacarpal bones, Abnormal hip bone morpholo... |
ORPHA:1837 |
| Mesomelic Dysplasia, Savarirayan Type |
|
Broad tibial metaphyses, Elbow dislocation, Bowing of the long bones, Narrow iliac wing, Mesomeli... |
ORPHA:85170 |
| Brachydactyly-Preaxial Hallux Varus Syndrome |
|
Radial club hand, Preaxial hand polydactyly, Short metatarsal, Broad thumb, Short metacarpal, Bra... |
ORPHA:1278 |
| Acrocapitofemoral Dysplasia |
|
Flared iliac wing, Short distal phalanx of finger, Cone-shaped epiphysis of the 1st metacarpal, C... |
OMIM:607778 |
| Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Mesomelic arm shortening, Short 2nd metacarpal, Radioulnar synostosis, Elbow dislocation, Split h... |
OMIM:171480 |
| Weismann-Netter Syndrome |
|
Squared iliac bones, Abnormality of tibia morphology, Bowing of the long bones, Aplasia/Hypoplasi... |
ORPHA:3344 |
| Hemoglobin H Disease |
|
Hemolytic anemia, Hepatomegaly, HbH hemoglobin, Splenomegaly, Reduced alpha/beta synthesis ratio |
OMIM:613978 |
| Gollop-Wolfgang Complex |
|
Aplasia/Hypoplasia of the tibia, Hand monodactyly, Ectrodactyly, Aplasia/Hypoplasia of the ulna, ... |
ORPHA:1986 |
| Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome |
|
Radial club hand, Upper limb phocomelia, Hypoplasia of the ulna, Short humerus, Aplasia/Hypoplasi... |
ORPHA:2878 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Hepatomegaly, Anemia, Persistence of hemoglobin F, Splenomegaly |
ORPHA:46532 |
| Chorea, Childhood-Onset, With Psychomotor Retardation |
|
Involuntary movements, Chorea, Abnormal head movements |
OMIM:616939 |
| Acrorenal Syndrome |
|
Split hand, Abnormality of tibia morphology, Aplasia/Hypoplasia of the radius, Abnormality of the... |
ORPHA:971 |
| Neonatal Severe Primary Hyperparathyroidism |
|
Abnormality of the metaphysis, Hepatomegaly, Splenomegaly |
ORPHA:417 |
| Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Progressive sensorineural hearing impairment, Ataxia, Abnormal auditory evoked potentials, Optic ... |
OMIM:125250 |
| Exudative Vitreoretinopathy 3 |
|
Exudative vitreoretinopathy, Retinal hole, Retinal exudate, Retinal detachment, Retinal fold |
OMIM:605750 |
| Multiple Epiphyseal Dysplasia Type 4 |
|
Short metatarsal, Ulnar deviation of the hand, Acetabular dysplasia, Short thumb, Short femoral n... |
ORPHA:93307 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Metaphyseal irregularity, Bowing of the legs, Femoral bowing, Hip dysplasia, Ulnar metaphyseal ir... |
ORPHA:174 |
| Ulnar Hypoplasia With Mental Retardation |
|
Talipes equinovarus, Bilateral ulnar hypoplasia, Limited elbow movement |
OMIM:276821 |
| Acheiropody |
|
Absent hand, Absent forearm, Carpal bone aplasia, Lower limb peromelia, Aplasia of the ulna, Shor... |
OMIM:200500 |
| Exostoses, Multiple, Type Ii |
|
Genu valgum, Madelung-like forearm deformities, Coxa vara, Protuberances at ends of long bones, P... |
OMIM:133701 |
| Optic Atrophy 8 |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged somatosensory ev... |
OMIM:616648 |
| Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly |
OMIM:206400 |
| Intellectual Developmental Disorder, X-Linked 101 |
|
Hyperactivity, Macrotia |
OMIM:300928 |
| Xk Aprosencephaly Syndrome |
|
Abnormal morphology of the radius |
ORPHA:3469 |
| Mental Retardation, Autosomal Dominant 33 |
|
Scoliosis, Delayed skeletal maturation, Short stature, Hyperactivity |
OMIM:616311 |
| Exostoses, Multiple, Type I |
|
Genu valgum, Madelung-like forearm deformities, Coxa vara, Protuberances at ends of long bones, P... |
OMIM:133700 |
| Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly |
OMIM:183350 |
| Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Limb apraxia, Tremor, Apraxia, Parkinsonism with favorable response to dopaminergic medication, A... |
ORPHA:240103 |
| Mesomelic Dysplasia, Nievergelt Type |
|
Genu valgum, Camptodactyly of finger, Abnormality of tibia morphology, Tarsal synostosis, Radioul... |
ORPHA:2633 |
| Huntington Disease-Like 1 |
|
Gait ataxia, Clumsiness, Incoordination, Chorea, Slurred speech, Poor fine motor coordination, Br... |
ORPHA:157941 |
| Crouzon Disease |
|
Narrow internal auditory canal, Conductive hearing impairment, Hearing impairment, Multiple sutur... |
ORPHA:207 |
| Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Recurrent pancreatitis, Splenomegaly |
OMIM:118830 |
| Optic Atrophy 11 |
|
Facial diplegia, Macrotia, Hyperkinetic movements, Ataxia, Hearing impairment, Dysmetria, Short s... |
OMIM:617302 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive |
|
Hepatomegaly, T lymphocytopenia, Lymphadenopathy, Splenomegaly |
OMIM:608971 |
| Wildervanck Syndrome |
|
Pseudopapilledema, Hearing impairment, Fused cervical vertebrae, Abnormality of the outer ear |
OMIM:314600 |
| Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type |
|
Short tibia, Hypoplasia of the radius, Pseudoarthrosis |
OMIM:156230 |
| Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Abnormality of tibia morphology, Synostosis of carpal bones, Elbow dislocation, Hypoplasia of the... |
ORPHA:2634 |
| Ogden Syndrome |
|
Scoliosis, Lethargy, Macrotia, Hypertonia, Postnatal growth retardation, Low-set ears, Delayed cr... |
ORPHA:276432 |
| Spondyloperipheral Dysplasia |
|
Broad thumb, Short metatarsal, Short distal phalanx of the 2nd finger, Short distal phalanx of fi... |
OMIM:271700 |
| Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Inability to walk, Tremor, Low-set ears, Stereotypy, Hyperactivity, Spasticity |
OMIM:618718 |
| 4Q21 Microdeletion Syndrome |
|
Scoliosis, Tremor, Kyphosis, Growth delay, Low-set ears, Hearing impairment, Stereotypy, Intraute... |
ORPHA:238750 |
| Mental Retardation, Autosomal Dominant 7 |
|
Thickened helices, Incoordination, Hyperactivity, Macrotia, Gait disturbance, Abnormality of the ... |
OMIM:614104 |
| Mental Retardation, Autosomal Recessive 61 |
|
Scoliosis, Posteriorly rotated ears, Low-set ears, Babinski sign, Hyperactivity, Spasticity |
OMIM:617773 |
| Pontocerebellar Hypoplasia, Type 11 |
|
Inability to walk, Macrotia, Difficulty walking, Limb ataxia, Poor coordination, Ataxia, Stereoty... |
OMIM:617695 |
| Intellectual Developmental Disorder, X-Linked 107 |
|
Hyperactivity, Macrotia |
OMIM:301013 |
| Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Prolonged brainstem... |
OMIM:601596 |
| Ulna Hypoplasia-Intellectual Disability Syndrome |
|
Hypoplasia of the radius, Broad thumb, Elbow dislocation, Broad hallux phalanx, Hypoplasia of the... |
ORPHA:2249 |
| Boomerang Dysplasia |
|
Abnormality of tibia morphology, Abnormality of femur morphology, Finger syndactyly, Abnormality ... |
ORPHA:1263 |
| Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Absent tibia, Split hand, Aplasia of the ulna, Foot monodactyly, Hand monodactyly, Bifid femur |
OMIM:228250 |
| Diamond-Blackfan Anemia 11 |
|
Hypoplasia of the radius, Radioulnar synostosis, Forearm reduction defects, Hypoplasia of the uln... |
OMIM:614900 |
| Branchiogenic Deafness Syndrome |
|
Osteolytic defects of the distal phalanges of the hand, Abnormality of the middle ear ossicles, A... |
ORPHA:50815 |
| Spondyloepimetaphyseal Dysplasia, Handigodu Type |
|
Hip dysplasia, Hip subluxation, Protrusio acetabuli, Flattened femoral head, Coxa vara, Broad rad... |
ORPHA:99642 |
| Christianson Syndrome |
|
Dystonia, Arthrogryposis multiplex congenita, Truncal ataxia, Gait ataxia, Macrotia, Joint hyperf... |
ORPHA:85278 |
| Noonan Syndrome |
|
Scoliosis, Thickened helices, Radioulnar synostosis, Joint hyperflexibility, Low-set, posteriorly... |
ORPHA:648 |
| Kbg Syndrome |
|
Scoliosis, Macrotia, Thoracic kyphosis, Persistent open anterior fontanelle, Vertebral fusion, Bi... |
ORPHA:2332 |
| Snijders Blok-Campeau Syndrome |
|
Scoliosis, Speech apraxia, Low-set ears, Unsteady gait, Stereotypy, Broad-based gait |
OMIM:618205 |
| Laurin-Sandrow Syndrome |
|
Absent tibia, Hand polydactyly, Fibular duplication, Short foot, Absent radius, Syndactyly, Patel... |
OMIM:135750 |
| Autism |
|
EEG abnormality, Stereotypy |
OMIM:209850 |
| Autism, Susceptibility To, X-Linked 3 |
|
EEG abnormality, Stereotypy |
OMIM:300496 |
| Autism, Susceptibility To, X-Linked 2 |
|
EEG abnormality, Stereotypy |
OMIM:300495 |
| Autism, Susceptibility To, 8 |
|
EEG abnormality, Stereotypy |
OMIM:607373 |
| Autism, Susceptibility To, X-Linked 1 |
|
EEG abnormality, Stereotypy |
OMIM:300425 |
| Chromosome 15Q11-Q13 Duplication Syndrome |
|
EEG abnormality, Stereotypy |
OMIM:608636 |
| Charge Syndrome |
|
Scoliosis, Overfolded helix, Postnatal growth retardation, Hemivertebrae, Delayed puberty, Hypopl... |
ORPHA:138 |
| Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia |
|
Aplasia of the inner ear, Microtia, first degree, Profound sensorineural hearing impairment, Ante... |
OMIM:610706 |
| Radial Hypoplasia, Triphalangeal Thumbs, Hypospadias, And Maxillary Diastema |
|
Nonopposable triphalangeal thumb, Hypoplasia of the radius |
OMIM:179250 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Scoliosis, Multiple pterygia, Arthrogryposis multiplex congenita, Craniosynostosis, Tarsal synost... |
OMIM:178110 |
| Holt-Oram Syndrome |
|
Small thenar eminence, Limited elbow extension, Hypoplasia of the radius, Finger clinodactyly, Ap... |
OMIM:142900 |
| Ulna And Fibula, Hypoplasia Of |
|
Fibular hypoplasia, Hypoplasia of the ulna |
OMIM:191400 |
| Aarskog-Scott Syndrome |
|
Camptodactyly of finger, Genu recurvatum, Joint hyperflexibility, Low-set, posteriorly rotated ea... |
ORPHA:915 |
| Sea-Blue Histiocyte Disease |
|
Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis, Splenomegaly |
OMIM:269600 |
| Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Low-set, posteriorly rotated ears, Hypertonia, Spastic tetraparesis, Abnormal pyramidal sign, Ata... |
OMIM:618598 |
| Aminoacylase 1 Deficiency |
|
Sensorineural hearing impairment, Hyperactivity |
OMIM:609924 |
| Developmental And Epileptic Encephalopathy 58 |
|
Optic atrophy, Spastic diplegia, Stereotypy, Hypsarrhythmia |
OMIM:617830 |
| Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Radial bowing, Bowing of the long bones, Tibial bowing, Lower limb undergrowth, Splenomegaly, Abn... |
ORPHA:3035 |
| Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Short phalanx of finger, Broad long bone diaphyses, Metaphyseal irregularity, Flared iliac wing, ... |
OMIM:300106 |
| Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Scoliosis, Conductive hearing impairment, Abnormality of the pinna, Cervical C2/C3 vertebral fusi... |
OMIM:214300 |
| Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density |
|
Hypoplasia of the radius, Short femur, Lytic defects of humeral diaphysis, Hypoplasia of the ulna... |
OMIM:601376 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Stereotypy, Tremor, Short stature, Ataxia |
OMIM:617862 |
| Smith-Magenis Syndrome |
|
Scoliosis, Hyperactivity, Morphological abnormality of the middle ear, Abnormality of the outer e... |
OMIM:182290 |
| Charcot-Marie-Tooth Disease, Type 4D |
|
Hearing impairment, Abnormal auditory evoked potentials, Decreased nerve conduction velocity |
OMIM:601455 |
| Mast Cell Sarcoma |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Lymphadenopathy |
ORPHA:66661 |
| Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Hepatiti... |
ORPHA:444463 |
| Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hepatomegaly, Splenomegaly |
OMIM:619175 |
| Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination |
|
Scoliosis, Difficulty walking, Flexion contracture, Stereotypy, Spasticity |
OMIM:617393 |
| Immunodeficiency 16 |
|
Coombs-positive hemolytic anemia, Pancytopenia, Splenomegaly |
OMIM:615593 |
| Lateral Meningocele Syndrome |
|
Scoliosis, Joint hypermobility, Wormian bones, Abnormality of the middle ear ossicles, Biconcave ... |
OMIM:130720 |
| Baker-Gordon Syndrome |
|
Scoliosis, Inability to walk, Dystonia, Joint laxity, Hyperkinetic movements, Ataxia, Stereotypy,... |
OMIM:618218 |
| Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Tremor, Anteverted ears, Macrotia, Gait disturbance, Poor coordination, Ataxia, Abnormality of pa... |
ORPHA:544254 |
| Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Recurrent tonsillitis, Microcytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy |
OMIM:618852 |
| Persistent Polyclonal B-Cell Lymphocytosis |
|
Hepatomegaly, Lymphocytosis, Splenomegaly |
OMIM:606445 |
| Multiple Pterygium Syndrome, Lethal Type |
|
Multiple pterygia, Akinesia, Flexion contracture, Vertebral fusion, Abnormal cervical curvature, ... |
OMIM:253290 |
| Saethre-Chotzen Syndrome |
|
Scoliosis, Hyperlordosis, Abnormality of the antihelix, Craniosynostosis, Narrow internal auditor... |
ORPHA:794 |
| Xq21 Microdeletion Syndrome |
|
Dysdiadochokinesis, Gait ataxia, Stapes ankylosis, Conductive hearing impairment, Growth delay, A... |
ORPHA:1435 |
| Bor Syndrome |
|
Hypoplasia of the cochlea, Abnormality of the middle ear ossicles, Enlarged cochlear aqueduct, Br... |
ORPHA:107 |
| Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language |
|
EEG abnormality, Recurrent hand flapping, Macrotia |
OMIM:617268 |
| Brachymesomelia-Renal Syndrome |
|
Mesomelic arm shortening, Hypoplasia of the radius, Fibular hypoplasia, Ulnar bowing, Single tran... |
OMIM:113470 |
| Intellectual Developmental Disorder, X-Linked 98 |
|
Macrotia, Growth delay, Ataxia, Stereotypy, Hyperactivity, Spasticity |
OMIM:300912 |
| Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Hypsarrhythmia, Multifocal epileptiform discharges, Myoclonus, Stereotypy, Prominent ear helix, L... |
ORPHA:411986 |
| Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Short 5th metacarpal, Spherocytosis, Splenomegaly |
ORPHA:66518 |
| Portal Hypertension, Noncirrhotic, 1 |
|
Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:617068 |
| Thalidomide Embryopathy |
|
Radial club hand, Preaxial hand polydactyly, Upper limb phocomelia, Split hand, Aplasia/hypoplasi... |
ORPHA:3312 |
| Dyschondrosteosis-Nephritis Syndrome |
|
Radial bowing, Madelung deformity, Aplasia/Hypoplasia of the radius, Ulnar bowing, Micromelia |
ORPHA:1765 |
| Distal Renal Tubular Acidosis |
|
Rickets, Growth delay, Bone pain, Paralysis, Enlarged vestibular aqueduct, Reduced bone mineral d... |
ORPHA:18 |
| Wildervanck Syndrome |
|
Meningocele, Pseudopapilledema, Facial palsy, Short neck, Fused cervical vertebrae, Congenital se... |
ORPHA:3456 |
| Niemann-Pick Disease, Type B |
|
Bone-marrow foam cells, Abnormal macular morphology, Sea-blue histiocytosis, Hepatomegaly, Spleno... |
OMIM:607616 |
| Acromesomelic Dysplasia, Demirhan Type |
|
Aplasia of the proximal phalanges of the hand, Tarsal synostosis, Short phalanx of finger, Short ... |
OMIM:609441 |
| Erythroleukemia, Familial, Susceptibility To |
|
Erythroid hyperplasia, Thrombocytopenia, Acute myeloid leukemia, Hepatomegaly, Anemia, Splenomega... |
OMIM:133180 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Thrombocytopenia, Abnormal hemoglobin, Anemia, Splenomegaly |
ORPHA:231393 |
| Ck Syndrome |
|
Scoliosis, Joint hypermobility, Hyperlordosis, Kyphosis, Posteriorly rotated ears, Hyperactivity |
OMIM:300831 |
| Hyperbilirubinemia, Shunt, Primary |
|
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Jaundice, Anemia of inadequate production, ... |
OMIM:237800 |
| Branchiootorenal Syndrome 1 |
|
Hypoplasia of the cochlea, Congenital hip dislocation, Branchial cyst, Conductive hearing impairm... |
OMIM:113650 |
| Faciocardiomelic Dysplasia, Lethal |
|
Radial deviation of the hand, Hypoplasia of the radius, Hypoplasia of the ulna, Single transverse... |
OMIM:227270 |
| Ck Syndrome |
|
Joint hypermobility, Lumbar hyperlordosis, Posteriorly rotated ears, Hyperactivity, Kyphoscoliosis |
ORPHA:251383 |
| Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Scoliosis, Abnormality of the antihelix, Elbow dislocation, Abnormal form of the vertebral bodies... |
ORPHA:2916 |
| Cenani-Lenz Syndactyly Syndrome |
|
Hypoplasia of the radius, Syndactyly, Hypoplasia of the ulna |
OMIM:212780 |
| X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Tremor, Macrotia, Upper limb spasticity, Gait disturbance, Hyperkinetic movements, Stereotypy, Sh... |
ORPHA:457240 |
| Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Scoliosis, Macrotia, Short stature, Stereotypy, Hyperactivity, Kyphoscoliosis |
ORPHA:391307 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 2 |
|
Radial bowing |
OMIM:617993 |
| Xq28 (MECP2) duplication |
|
Inability to walk, Gait ataxia, Macrotia, Death in childhood, Stereotypy, Progressive spasticity |
DECIPHER:45 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Hypertonia, Tetraparesis, Head titubation, Spastic gait, Abnormal auditory evoked potentials, Sen... |
ORPHA:99027 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin, Microcytic anemia, Splenomegaly |
ORPHA:231242 |
| Late-Infantile/Juvenile Krabbe Disease |
|
Hemiplegia, Tremor, Prolonged brainstem auditory evoked potentials, Clumsiness, Spastic parapares... |
ORPHA:206443 |
| Multiple Pterygium Syndrome, X-Linked |
|
Multiple pterygia, Flexion contracture, Vertebral fusion, Abnormal cervical curvature, Low-set ea... |
OMIM:312150 |
| Coffin-Siris Syndrome 6 |
|
Wormian bones, Conductive hearing impairment, Low-set, posteriorly rotated ears, Tics, Stereotypy... |
OMIM:617808 |
| Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter |
|
Dystonia, Gait ataxia, Difficulty walking, Abnormality of the pinna, Unsteady gait, Stereotypy, O... |
OMIM:617807 |
| Leber Congenital Amaurosis 1 |
|
Sensorineural hearing impairment, Eye poking |
OMIM:204000 |
| Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Abnormal cranial nerve morphology, Narrow internal auditory canal, Holoprosencephaly, Low-set, po... |
ORPHA:990 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Jaundice, Anisocytosis, Syndactyly, Anemia ... |
OMIM:615631 |
| Hyperphosphatasia With Mental Retardation Syndrome 6 |
|
Thickened helices, Growth delay, Flexion contracture, Osteopenia, Knee flexion contracture, Hyper... |
OMIM:616809 |
| Kbg Syndrome |
|
Macrotia, Thoracic kyphosis, Vertebral fusion, Short stature, Delayed skeletal maturation, Verteb... |
OMIM:148050 |
| Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Spastic paraplegia, Temporal optic disc pallor, Ataxia, Absent brainstem auditory responses, Sens... |
ORPHA:1215 |
| Bresek Syndrome |
|
Scoliosis, Growth delay, Aganglionic megacolon, Hemivertebrae, Low-set ears, Hearing impairment, ... |
ORPHA:85284 |
| Acromesomelic Dysplasia, Maroteaux Type |
|
Radial bowing, Limited elbow extension, Hypoplasia of the radius, Short metatarsal, Short phalanx... |
OMIM:602875 |
| Coffin-Siris Syndrome 7 |
|
Macrotia, Recurrent otitis media, Low-set ears, Posteriorly rotated ears, Hearing impairment, Sho... |
OMIM:618027 |
| Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome |
|
Nonopposable triphalangeal thumb, Hypoplasia of the radius, Micromelia |
ORPHA:2252 |
| 48,Xxyy Syndrome |
|
Scoliosis, Tremor, Radioulnar synostosis, Elbow dislocation, Joint hyperflexibility, Chronic otit... |
ORPHA:10 |
| Mental Retardation, Autosomal Dominant 48 |
|
Low-set ears, Sensorineural hearing impairment, Abnormality of the pinna, Stereotypy |
OMIM:617751 |
| Immunodeficiency 43 |
|
Radial bowing, Hypoplasia of the ulna |
OMIM:241600 |
| Mannosidosis, Beta A, Lysosomal |
|
Hearing impairment, Hyperactivity |
OMIM:248510 |
| Intellectual Developmental Disorder With Autism And Speech Delay |
|
Inability to walk, Joint laxity, Stereotypy |
OMIM:606053 |
| Hypertriglyceridemia, Transient Infantile |
|
Hepatic fibrosis, Hepatic steatosis, Hepatomegaly, Splenomegaly |
OMIM:614480 |
| Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Back pain, Death in infancy, Severe short stature, Hemivertebrae, Vertebral fusion, Disproportion... |
OMIM:277300 |
| Atypical Rett Syndrome |
|
Scoliosis, Pill-rolling tremor, Tremor, Gait ataxia, Apraxia, Dystonia, Inability to walk, Kyphos... |
ORPHA:3095 |
| Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities |
|
Attention deficit hyperactivity disorder, Stereotypy |
OMIM:617787 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Tremor, Gait ataxia, Joint laxity, Kyphosis, Abnormality of the pinna, Delayed puberty, Short sta... |
OMIM:300354 |
| Dysplastic Cortical Hyperostosis |
|
Abnormality of limb bone morphology, Hepatomegaly, Limb undergrowth, Splenomegaly |
ORPHA:2204 |
| Intellectual Developmental Disorder, X-Linked 72 |
|
Stereotypy, Hyperactivity |
OMIM:300271 |
| X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome |
|
Scoliosis, Joint laxity, Hearing impairment, Hyperactivity, Broad-based gait, Spasticity |
ORPHA:457260 |
| Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Stereotypy, Macrotia |
OMIM:618504 |
| Tyrosinemia Type 1 |
|
Hepatomegaly, Hepatocellular carcinoma, Splenomegaly |
ORPHA:882 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Extramedullary hematopoiesis, Neutropenia, Thrombocytopenia, Hepatomegaly, Leukopenia, Splenomega... |
OMIM:615285 |
| Radial Ray Hypoplasia With Choanal Atresia |
|
Small thenar eminence, Hypoplasia of the radius, Short thumb, Distally placed thumb |
OMIM:179270 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Macrocytic dyserythropoietic anemia, Reticulocytosis, Erythroid hyperplasia, Prolonged neonatal j... |
OMIM:224120 |
| Arnold-Chiari Malformation Type I |
|
Scoliosis, Adult onset sensorineural hearing impairment, Anteriorly placed odontoid process, Vert... |
ORPHA:268882 |
| Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Low-set ears, Sensorineural hearing impairment, Short stature, Hyperactivity |
OMIM:618342 |
| Red Cell Phospholipid Defect With Hemolysis |
|
Reticulocytosis, Intermittent jaundice, Splenomegaly |
OMIM:179700 |
| Smith-Magenis syndrome |
|
Short stature, Stereotypy, Hyperactivity |
DECIPHER:8 |
| Ritscher-Schinzel Syndrome 3 |
|
Shortening of all distal phalanges of the fingers, Chorioretinal coloboma, Epiphyseal stippling, ... |
OMIM:619135 |
| Mend Syndrome |
|
Kyphosis, Hypertonia, Low-set ears, Short stature, Hyperactivity, Hydrocephalus |
OMIM:300960 |
| Tick-Borne Encephalitis |
|
Tremor, Vertigo, Incoordination, Abnormal cranial nerve morphology, Speech apraxia, Hyperkinetic ... |
ORPHA:297 |
| Immunodeficiency 64 |
|
Clubbing of fingers, Abnormal CD4:CD8 ratio, Increased proportion autoreactive unresponsive CD21-... |
OMIM:618534 |
| Adult Krabbe Disease |
|
Hemiplegia, Hoffmann sign, Prolonged brainstem auditory evoked potentials, Clumsiness, Tetrapares... |
ORPHA:206448 |
| Atelosteogenesis, Type Iii |
|
Widened distal phalanges, Radial bowing, Elbow dislocation, Hitchhiker thumb, Rhizomelia, Sandal ... |
OMIM:108721 |
| Otopalatodigital Syndrome Type 1 |
|
Synostosis of carpal bones, Elbow dislocation, Increased bone mineral density, Hearing impairment... |
ORPHA:90650 |
| Asperger Syndrome, X-Linked, Susceptibility To, 2 |
|
Stereotypy |
OMIM:300497 |
| Asperger Syndrome, X-Linked, Susceptibility To, 1 |
|
Stereotypy |
OMIM:300494 |
| Asperger Syndrome, Susceptibility To, 1 |
|
Stereotypy |
OMIM:608638 |
| Asperger Syndrome, Susceptibility To, 2 |
|
Stereotypy |
OMIM:608631 |
| Cri-Du-Chat Syndrome |
|
Scoliosis, Difficulty walking, Hypertonia, Growth delay, Abnormality of the pinna, Low-set ears, ... |
OMIM:123450 |
| Charcot-Marie-Tooth Disease Type 4C |
|
Sensory ataxia, Sensorineural hearing impairment, Vocal cord paralysis, Impaired distal vibration... |
ORPHA:99949 |
| Foxg1 Syndrome |
|
Scoliosis, Inability to walk, Dystonia, Difficulty walking, Hyperkinetic movements, Myoclonus, St... |
ORPHA:561854 |
| Acrocraniofacial Dysostosis |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Conductive hearing impairm... |
OMIM:201050 |
| Roifman Syndrome |
|
Short metacarpal, Brachydactyly, Hepatomegaly, Retinal dystrophy, Splenomegaly, Eosinophilia, Sho... |
OMIM:616651 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Radial bowing, Limited elbow extension, Short middle phalanx of finger, Hypoplastic scapulae, Sho... |
OMIM:210720 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Metaphyseal irregularity, Limb undergrowth, Hepatomegaly, Coxa vara, Splenomegaly, Flared metaphy... |
OMIM:602557 |
| Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
|
Chorea, Paroxysmal dyskinesia, Poor coordination, Ataxia, EEG abnormality, Stereotypy |
OMIM:619150 |
| Multiple Osteochondromas |
|
Radial bowing, Genu valgum, Abnormality of tibia morphology, Elbow dislocation, Micromelia, Madel... |
ORPHA:321 |
| Radius, Aplasia Of, With Cleft Lip/Palate |
|
Absent radius |
OMIM:179400 |
| Huntington Disease-Like 3 |
|
Dystonia, Extrapyramidal muscular rigidity, Abnormality of extrapyramidal motor function, Progres... |
ORPHA:157946 |
| Exudative Vitreoretinopathy 2, X-Linked |
|
Exudative vitreoretinopathy, Retinal hole, Falciform retinal fold, Subretinal exudate, Peripheral... |
OMIM:305390 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 2 |
|
Arthrogryposis multiplex congenita, Hypertonia, Spastic tetraplegia, Stereotypy, Intrauterine gro... |
OMIM:615282 |
| Marshall Syndrome |
|
Radial bowing, Wide tufts of distal phalanges, Hypoplastic ilia, Coxa valga, Small distal femoral... |
OMIM:154780 |
| Duane Retraction Syndrome |
|
Narrow internal auditory canal, Abnormal form of the vertebral bodies, Camptodactyly, Blepharospa... |
ORPHA:233 |
| Mental Retardation, Autosomal Dominant 40 |
|
Joint hypermobility, Gait ataxia, Low-set ears, Stereotypy, Impaired pain sensation |
OMIM:616579 |
| Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
|
Flexion contracture, Cervical C2/C3 vertebral fusion, Low-set ears, Thoracolumbar scoliosis, Acet... |
OMIM:616549 |
| Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Hypoplasia of the radius, Mesomelia, Hand oligodactyly, Absent thumb, Proximal placement of thumb... |
OMIM:602418 |
| N-Acetylaspartate Deficiency |
|
Unsteady gait, Truncal ataxia, Short stature, Stereotypy |
OMIM:614063 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Scoliosis, Hyperlordosis, Difficulty walking, Kyphosis, Toe walking, Achilles tendon contracture,... |
OMIM:606612 |
| Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome |
|
Abnormal pyramidal sign, Intrauterine growth retardation, Hearing impairment, Hyperactivity, Tetr... |
ORPHA:369939 |
| Van Bogaert-Hozay Syndrome |
|
Distal ulnar hypoplasia, Osteolytic defects of the phalanges of the hand |
OMIM:277150 |
| Trisomy 4P |
|
Radial club hand, Preaxial hand polydactyly, Camptodactyly of finger |
ORPHA:1738 |
| Kyphomelic Dysplasia |
|
Radial bowing, Short femur, Dumbbell-shaped humerus, Short humerus, Tibial bowing, Flat acetabula... |
OMIM:211350 |
| Microcephaly, Short Stature, And Limb Abnormalities |
|
Dislocated radial head, Hypoplasia of the radius, Radioulnar synostosis, Mesomelia, Patellar apla... |
OMIM:617604 |
| Skeletal Defects, Genital Hypoplasia, And Mental Retardation |
|
Short femur, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius, Fibular hypoplasia, Absent... |
OMIM:612447 |
| Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Scoliosis, Conductive hearing impairment, Cervical C2/C3 vertebral fusion, Hearing impairment, Se... |
OMIM:118100 |
| Hyperprolinemia, Type I |
|
Stereotypy, EEG abnormality, Ataxia |
OMIM:239500 |
| Severe Intellectual Disability And Progressive Spastic Paraplegia |
|
Dystonia, Generalized joint laxity, Genu recurvatum, Difficulty walking, Acetabular dysplasia, Wa... |
ORPHA:280763 |
| Mental Retardation, Autosomal Recessive 58 |
|
Choreoathetosis, Spastic diplegia, Stereotypy |
OMIM:617270 |
| Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Scoliosis, Joint laxity, Recurrent otitis media, Umbilical hernia, Sensorineural hearing impairme... |
ORPHA:500159 |
| Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Dystonia, Joint laxity, Spastic diplegia, Postnatal growth retardation, Torticollis, Sensorineura... |
ORPHA:300570 |
| Microcephaly With Cervical Spine Fusion Anomalies |
|
Vertebral fusion, Spinal instability, Short stature |
OMIM:251250 |
| Glycine Encephalopathy With Normal Serum Glycine |
|
Arthrogryposis multiplex congenita, Joint laxity, Clonus, Genu recurvatum, Hypertonia, Flexion co... |
OMIM:617301 |
| Autosomal Recessive Non-Syndromic Intellectual Disability |
|
Hypsarrhythmia, EEG with focal epileptiform discharges, Chorea, Spasticity, Multifocal epileptifo... |
ORPHA:88616 |
| Optic Atrophy-Intellectual Disability Syndrome |
|
Hearing impairment, Protruding ear, Abnormality of the helix, Optic nerve hypoplasia, Short statu... |
ORPHA:401777 |
| Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Scoliosis, Abnormality of the antihelix, Kyphosis, Growth delay, Protruding ear, Stereotypy, Prom... |
ORPHA:261144 |
| Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract |
|
Stereotypical hand wringing, Hypsarrhythmia, Spasticity |
ORPHA:500545 |
| Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormal B cell count, Anemia, Splenomegaly, Lymphadenopathy |
ORPHA:100024 |
| Ivic Syndrome |
|
Small thenar eminence, Limited wrist movement, Hypoplasia of the radius, Short femur, Upper limb ... |
OMIM:147750 |
| Developmental And Epileptic Encephalopathy 30 |
|
Stereotypy, Hypsarrhythmia |
OMIM:616341 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Tremor, Dystonia, Abnormal pyramidal sign, Tetraparesis, Ataxia, Myoclonus, Hyperactivity, Spasti... |
OMIM:615924 |
| Sea-Blue Histiocytosis |
|
Thrombocytopenia, Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy... |
ORPHA:158029 |
| Cardiospondylocarpofacial Syndrome |
|
Scoliosis, Tarsal synostosis, Joint laxity, Conductive hearing impairment, Recurrent otitis media... |
OMIM:157800 |
| Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Hyperlordosis, Kyphosis, Low-set ears, Short stature, Short neck, Fused cervical vertebrae |
ORPHA:2522 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly, Optic atrophy |
OMIM:615085 |
| Kniest Dysplasia |
|
Platyspondyly, Arthropathy, Enlarged joints, Flexion contracture of finger, Disproportionate shor... |
ORPHA:485 |
| Developmental And Speech Delay Due To Sox5 Deficiency |
|
Scoliosis, Thoracic kyphoscoliosis, Lumbar hyperlordosis, Vertebral fusion, Stereotypy, Optic atr... |
ORPHA:313892 |
| Intellectual Developmental Disorder, X-Linked 30 |
|
Hyperactivity, Macrotia |
OMIM:300558 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Lymphocytosis, Monocytosis, Hemolytic anemia, Autoimmune thrombocytopenia, Follicular hyperplasia... |
OMIM:614470 |
| Inverted Duplicated Chromosome 15 Syndrome |
|
Joint hypermobility, Low-set, posteriorly rotated ears, Growth delay, Stereotypy, Hyperactivity |
ORPHA:3306 |
| Congenital Bile Acid Synthesis Defect Type 2 |
|
Cirrhosis, Neonatal cholestatic liver disease, Biliary tract abnormality, Hepatomegaly, Jaundice,... |
ORPHA:79303 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Splenomegaly, Anemia, Anemia of inadequate ... |
OMIM:613673 |
| Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Oromotor apraxia, Hypoplastic helices, Recurrent otitis media, Flexion contracture, Abnormality o... |
ORPHA:391372 |
| X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Kyphosis, Congenital bilateral hip dislocation, Short stature, Hyperactivity |
ORPHA:85288 |
| New-Onset Refractory Status Epilepticus |
|
EEG with spike-wave complexes, Interictal EEG abnormality, EEG with temporal epileptiform dischar... |
ORPHA:363558 |
| Immunodeficiency 76 |
|
T lymphocytopenia, Lymphopenia, B lymphocytopenia, Splenomegaly, Lymphadenopathy |
OMIM:619164 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Fibular aplasia, Broad thumb, Finger syndactyly, Adducted thumb, Thrombocytopenia, Aplasia/Hypopl... |
ORPHA:3320 |
| Van Den Ende-Gupta Syndrome |
|
Distal ulnar hypoplasia, Dislocated radial head, Camptodactyly of toe, Ulnar bowing, Slender long... |
OMIM:600920 |
| Proximal 16P11.2 Microdeletion Syndrome |
|
Scoliosis, Dystonia, Craniosynostosis, Abnormal vertebral morphology, Speech apraxia, Conductive ... |
ORPHA:261197 |
| Immunodeficiency 27A |
|
Thrombocytosis, Leukocytosis, Histiocytosis, Anemia, Splenomegaly, Enlarged mesenteric lymph node... |
OMIM:209950 |
| Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Hemivertebrae, Vertebral fusion, Abnormality of the odontoid process, Spina bifida occulta, Short... |
OMIM:613686 |
| Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Osteoporosis, Attention deficit hyperactivity disorder, Hyperactivity, Postnatal growth retardati... |
ORPHA:73272 |
| 22Q11.2 Duplication Syndrome |
|
Scoliosis, Growth delay, Hearing impairment, Stereotypy, Anterior creases of earlobe, Attention d... |
ORPHA:1727 |
| Polydactyly, Postaxial, With Dental And Vertebral Anomalies |
|
Tarsal synostosis, Hemivertebrae, Vertebral fusion, Low-set ears, Underfolded helix, Spinal canal... |
OMIM:263540 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Reticulocytosis, Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly, Optic atrophy, Hepatosplen... |
OMIM:611490 |
| Megalocornea-Intellectual Disability Syndrome |
|
Scoliosis, Joint hyperflexibility, Kyphosis, Ataxia, Sensorineural hearing impairment, Protruding... |
ORPHA:2479 |
| Otopalatodigital Syndrome, Type Ii |
|
Nonossified fifth metatarsal, Broad thumb, Short metatarsal, Congenital hip dislocation, Short th... |
OMIM:304120 |
| Follicular Lymphoma |
|
Mediastinal lymphadenopathy, Abnormality of the peritoneum, Lymphadenopathy, Splenomegaly |
ORPHA:545 |
| Alazami Syndrome |
|
Scoliosis, Postnatal growth retardation, Low-set ears, Stereotypy, Stereotypical hand wringing |
ORPHA:319671 |
| Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Scoliosis, Dystonia, Arthrogryposis multiplex congenita, Congenital hip dislocation, Macrotia, Gr... |
ORPHA:496641 |
| Guanidinoacetate Methyltransferase Deficiency |
|
Dystonia, Progressive extrapyramidal movement disorder, Abnormality of extrapyramidal motor funct... |
ORPHA:382 |
| Radio-Tartaglia Syndrome |
|
Scoliosis, Tremor, Conductive hearing impairment, Ataxia, Low-set ears, Hearing impairment, Stere... |
OMIM:619312 |
| Cerebral Creatine Deficiency Syndrome 1 |
|
Joint hypermobility, Dystonia, Gait disturbance, Aganglionic megacolon, Poor hand-eye coordinatio... |
OMIM:300352 |
| Ring Chromosome 21 Syndrome |
|
Scoliosis, Holoprosencephaly, Gait disturbance, Fused thoracic vertebrae, Thoracic hemivertebrae,... |
ORPHA:1445 |
| Potocki-Lupski Syndrome |
|
Scoliosis, Hearing impairment, Short stature, Stereotypy, Hyperactivity |
OMIM:610883 |
| Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly |
|
Prominent antihelix, Stereotypy |
OMIM:618825 |
| Ulnar/Fibular Ray Defect And Brachydactyly |
|
Toe syndactyly, Postaxial oligodactyly, Fibular hypoplasia, Bilateral talipes equinovarus, Brachy... |
OMIM:608571 |
| Lamb-Shaffer Syndrome |
|
Scoliosis, Thoracic kyphosis, Ataxia, Mild postnatal growth retardation, Stereotypy, Upper motor ... |
ORPHA:530983 |
| Ulnar Agenesis And Endocardial Fibroelastosis |
|
Hand oligodactyly, Aplasia of the ulna |
OMIM:276822 |
| Isotretinoin-Like Syndrome |
|
Anotia, Aplasia/Hypoplasia of the inner ear, Atresia of the external auditory canal, Postnatal gr... |
ORPHA:2306 |
| Laurin-Sandrow Syndrome |
|
Preaxial hand polydactyly, Tarsal synostosis, Absent tibia, Limb duplication, Toe syndactyly, Fin... |
ORPHA:2378 |
| Rubinstein-Taybi Syndrome 2 |
|
Posterior helix pit, Hyperactivity |
OMIM:613684 |
| Splenoportal Vascular Anomalies |
|
Cirrhosis, Hepatic fibrosis, Anomalous splenoportal venous system, Ascites, Splenomegaly |
OMIM:271500 |
| Intellectual Disability, Birk-Barel Type |
|
Congenital finger flexion contractures, Limited elbow flexion/extension, Sacral dimple, Contractu... |
ORPHA:166108 |
| Farber Lipogranulomatosis |
|
Hepatomegaly, Cherry red spot of the macula, Lipogranulomatosis, Splenomegaly |
OMIM:228000 |
| Anemia, Congenital Dyserythropoietic, Type Ii |
|
Reticulocytosis, Cholelithiasis, Jaundice, Splenomegaly, Anemia of inadequate production |
OMIM:224100 |
| Microphthalmia, Syndromic 3 |
|
Vertebral hypoplasia, Spastic diplegia, Postnatal growth retardation, Hemivertebrae, Vertebral fu... |
OMIM:206900 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment |
OMIM:109120 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Genu valgum, Postaxial hand polydactyly, Retinal degeneration, Cholestasis, Hepatic fibrosis, Sho... |
OMIM:615630 |
| Immunodeficiency 69 |
|
Thrombocytosis, Leukocytosis, Pancytopenia, Anemia, Splenomegaly, Hepatosplenomegaly |
OMIM:618963 |
| Tetraploidy |
|
Radial club hand, Aplasia/Hypoplasia of the thymus |
ORPHA:3305 |
| Rhyns Syndrome |
|
Radial bowing, Short femoral neck, Brachydactyly, Rod-cone dystrophy |
OMIM:602152 |
| Symptomatic Form Of Fragile X Syndrome In Female Carrier |
|
Scoliosis, Joint laxity, Macrotia, Recurrent otitis media, Stereotypy, Recurrent hand flapping, H... |
ORPHA:449291 |
| Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Moderate hearing impairment, Difficulty walking, Recurrent otitis media, Cervical C2/C3 vertebral... |
ORPHA:370010 |
| Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Vestibular areflexia, Absent brainstem auditory responses, Spastic tetraplegia, Head titubation |
ORPHA:3240 |
| 13Q12.3 Microdeletion Syndrome |
|
Hyperactivity, Camptodactyly, Chronic otitis media, Hearing impairment, Short stature, Impaired p... |
ORPHA:412035 |
| Mietens Syndrome |
|
Hip dysplasia, Hypoplasia of the radius, Elbow dislocation, Elbow ankylosis, Hypoplasia of the ul... |
ORPHA:2557 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Scoliosis, Spasticity, Hearing impairment, Hyperactivity, Broad-based gait |
OMIM:300958 |
| Gm1 Gangliosidosis Type 1 |
|
Platyspondyly, Macrotia, Beaking of vertebral bodies T12-L3, Low-set ears, Hearing impairment, Ac... |
ORPHA:79255 |
| Pyruvate Dehydrogenase E2 Deficiency |
|
Jerky head movements, Choreoathetosis, Oculomotor apraxia, Ataxia |
OMIM:245348 |
| Atelosteogenesis, Type I |
|
Radial bowing, Club-shaped proximal femur, Short femur, Short metatarsal, Elbow dislocation, Rhiz... |
OMIM:108720 |
| Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Scoliosis, Joint laxity, Flexion contracture, Low-set ears, Posteriorly rotated ears, Stereotypy,... |
OMIM:619293 |
| Tay-Sachs Disease |
|
Inability to walk, Limited elbow extension, Tremor, Incoordination, Clumsiness, Dystonia, Limited... |
ORPHA:845 |
| Radial Aplasia, X-Linked |
|
Absent radius |
OMIM:312190 |
| Kohlschutter-Tonz Syndrome-Like |
|
Scoliosis, Joint hypermobility, Tremor, Inability to walk, Upper limb spasticity, Death in adoles... |
OMIM:619229 |
| Alpha-Thalassemia |
|
Hemolytic anemia, Microcytic anemia, Cholelithiasis, Jaundice, Hypersplenism, Splenomegaly, Anemi... |
ORPHA:846 |
| Fibrodysplasia Ossificans Progressiva |
|
Scoliosis, Small cervical vertebral bodies, Conductive hearing impairment, Ectopic ossification i... |
OMIM:135100 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Genu valgum, Abnormality of epiphysis morphology, Thrombocytopenia, Hepatomegaly, Anemia, Splenom... |
ORPHA:2785 |
| Acrodysostosis |
|
Hypoplasia of the radius, Epiphyseal stippling, Short metatarsal, Short toe, Abnormality of the r... |
ORPHA:950 |
| Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Absent tonsils, Lymph node hypoplasia, Aplasia of the thymus |
OMIM:602450 |
| Developmental And Epileptic Encephalopathy 6B |
|
Scoliosis, Inability to walk, Dystonia, Chorea, Hyperkinetic movements, Ataxia, Myoclonus, Stereo... |
OMIM:619317 |
| Cdkl5-Deficiency Disorder |
|
Scoliosis, Difficulty walking, Kyphosis, Growth delay, Gait disturbance, Impaired pain sensation,... |
ORPHA:505652 |
| Tibial Aplasia-Ectrodactyly Syndrome |
|
Preaxial hand polydactyly, Postaxial hand polydactyly, Short femur, Abnormality of femur morpholo... |
ORPHA:3329 |
| Spondylometaphyseal Dysplasia, Algerian Type |
|
Genu valgum, Hypoplastic pelvis, Carpal bone hypoplasia, Flared femoral metaphysis, Short greater... |
OMIM:184253 |
| Rett Syndrome, Congenital Variant |
|
Scoliosis, Dystonia, Apraxia, Chorea, Kyphosis, Protruding ear, Tongue thrusting, Stereotypy, Ath... |
OMIM:613454 |
| Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:610293 |
| Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Incoordination, Spastic paraparesis, Macrotia, Camptodactyly, Ataxia, Umbilical hernia, Low-set e... |
ORPHA:369891 |
| X-Linked Intellectual Disability, Cabezas Type |
|
Scoliosis, Cubitus valgus, Camptodactyly of finger, Tremor, Joint hyperflexibility, Kyphosis, Sho... |
ORPHA:85293 |
| Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Aplasia of the proximal phalanges of the hand, Abnormality of mesentery morphology, Finger syndac... |
ORPHA:2256 |
| 3P25.3 Microdeletion Syndrome |
|
Scoliosis, Sacral dimple, Abnormality of the outer ear, Ataxia, Sensorineural hearing impairment,... |
ORPHA:435638 |
| Koolen-De Vries Syndrome |
|
Scoliosis, Overfolded helix, Joint hyperflexibility, Kyphosis, Vertebral fusion, Protruding ear, ... |
ORPHA:96169 |
| Juberg-Hayward Syndrome |
|
Hypoplasia of the radius, Toe syndactyly, Abnormality of finger, Radioulnar synostosis, Abnormali... |
ORPHA:2319 |
| Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome |
|
Abnormality of the ulna, Abnormality of the metacarpal bones |
ORPHA:2233 |
| Stapes Ankylosis With Broad Thumbs And Toes |
|
Stapes ankylosis, Conductive hearing impairment, Proximal/middle symphalangism of 5th finger, Fus... |
OMIM:184460 |
| Chromosome 5P13 Duplication Syndrome |
|
Scoliosis, Craniosynostosis, Stereotypy, Low-set ears |
OMIM:613174 |
| W Syndrome |
|
Radial bowing, Cubitus valgus, Elbow dislocation, Camptodactyly, Hypoplasia of the ulna, Clinodac... |
ORPHA:2804 |
| Nail-Patella Syndrome |
|
Limited elbow extension, Triceps aplasia, Biceps aplasia, Hypoplastic radial head, Iliac horns, D... |
OMIM:161200 |
| Koolen-De Vries Syndrome |
|
Scoliosis, Joint hypermobility, Overfolded helix, Macrotia, Anteverted ears, Kyphosis, Sacral dim... |
OMIM:610443 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Scoliosis, Kyphosis, Short stature, Hyperactivity, Hip dislocation |
OMIM:300434 |
| Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Short hallux, Absent tibia, Absent forearm, Split hand, Hand monodactyly, Split foot, Patellar ap... |
OMIM:119100 |
| Otopalatodigital Syndrome Type 2 |
|
Scoliosis, Camptodactyly of finger, Tarsal synostosis, Elbow dislocation, Synostosis of carpal bo... |
ORPHA:90652 |
| Smith-Magenis Syndrome |
|
Scoliosis, Abnormal form of the vertebral bodies, Conductive hearing impairment, Gait disturbance... |
ORPHA:819 |
| Tibial Hemimelia |
|
Radial club hand, Tarsal synostosis, Polydactyly, Split hand, Metatarsus adductus, Absent radius,... |
ORPHA:93322 |
| Boomerang Dysplasia |
|
Hypoplastic iliac body, Absent radius, Fibular aplasia |
OMIM:112310 |
| Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Hypertonia, Joint contracture of the 5th finger, Umbilical hernia, Cupped ear, Stereotypy, Joint ... |
OMIM:618914 |
| Ventriculomegaly With Defects Of The Radius And Kidney |
|
Absent thumb, Forearm undergrowth, Absent radius, Bowed forearm bones |
OMIM:602200 |
| Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies |
|
Hyperactivity, Recurrent otitis media, Short stature, Spasticity |
OMIM:615286 |
| Macrocephaly-Developmental Delay Syndrome |
|
Stereotypy, EEG with generalized slow activity, Abnormal speech discrimination |
ORPHA:397612 |
| Pallister W Syndrome |
|
Radial bowing, Cubitus valgus, Camptodactyly, Hypoplasia of the ulna, Radial deviation of finger,... |
OMIM:311450 |
| Charcot-Marie-Tooth Disease Type 1F |
|
Gait ataxia, Head tremor, Limb ataxia, Absent brainstem auditory responses, Sensorineural hearing... |
ORPHA:101085 |
| Chronic Bilirubin Encephalopathy |
|
Abnormal auditory evoked potentials, Hypertonia, Sensorineural hearing impairment, Cerebral palsy |
ORPHA:529808 |
| Acute Bilirubin Encephalopathy |
|
Abnormal auditory evoked potentials, Hypertonia, Sensorineural hearing impairment, Cerebral palsy |
ORPHA:529799 |
| Mental Retardation, Autosomal Dominant 34 |
|
Hearing impairment, Stereotypy |
OMIM:616351 |
| Plaa-Associated Neurodevelopmental Disorder |
|
Dystonia, Abnormality of extrapyramidal motor function, Low-set, posteriorly rotated ears, Kyphos... |
ORPHA:521426 |
| Prader-Willi Syndrome Due To Imprinting Mutation |
|
Small hand, Narrow palm, Abnormality of ulnar metaphysis, Short foot |
ORPHA:177910 |
| Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Inability to walk, Tremor, Gait disturbance, Dysmetria, Hyperactivity, Rigidity |
OMIM:618090 |
| Intellectual Developmental Disorder, X-Linked 21 |
|
Uplifted earlobe, Joint hypermobility, Hyperactivity |
OMIM:300143 |
| Autosomal Recessive Ataxia Due To Pex10 Deficiency |
|
Truncal ataxia, Progressive gait ataxia, Limb ataxia, Abnormal pyramidal sign, Progressive cerebe... |
ORPHA:247815 |
| Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities |
|
Low-set ears, Posteriorly rotated ears, Short stature, Hyperactivity, Microtia |
OMIM:618089 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Lethargy, Hypertonia, Growth delay, Hyperactivity, Tetraplegia, Optic atrophy |
OMIM:274270 |
| Radial-Renal Syndrome |
|
Absent thumb, Absent radius |
OMIM:179280 |
| Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements |
|
Stereotypical hand wringing, Chorea, EEG abnormality |
OMIM:618760 |
| 19P13.3 Microduplication Syndrome |
|
Osteoporosis, Hip subluxation, Hyperactivity, Growth delay, Low-set ears, Posteriorly rotated ear... |
ORPHA:447980 |
| Helsmoortel-Van Der Aa Syndrome |
|
Joint laxity, Low-set, posteriorly rotated ears, Short stature, Stereotypy, Hyperactivity |
OMIM:615873 |
