| Radioulnar Synostosis, Nonsyndromic, Susceptibility To |
|
Limited pronation/supination of forearm, Radioulnar synostosis |
OMIM:179300 |
| Metaphyseal Anadysplasia |
|
Abnormal morphology of ulna, Abnormal ulnar metaphysis morphology, Aplasia/Hypoplasia of the radi... |
ORPHA:1040 |
| Congenital Radioulnar Synostosis |
|
Dislocated radial head, Abnormality of the musculature of the upper arm, Talipes equinovarus, Abn... |
ORPHA:3269 |
| Ring Chromosome 4 Syndrome |
|
Split hand, Abnormal morphology of ulna, Aplasia/Hypoplasia of the radius, Abnormality of the upp... |
ORPHA:1447 |
| Fibular Aplasia-Ectrodactyly Syndrome |
|
Split hand, Aplasia/Hypoplasia of the fibula, Abnormal morphology of ulna |
ORPHA:1118 |
| Deafness, Autosomal Recessive 109 |
|
Congenital sensorineural hearing impairment, Morphological abnormality of the semicircular canal |
OMIM:618013 |
| Symbrachydactyly Of Hands And Feet |
|
Abnormality of the humeroulnar joint, Abnormal morphology of ulna, Abnormality of the humerus, Ap... |
ORPHA:1570 |
| Femur-Fibula-Ulna Complex |
|
Abnormality of femur morphology, Abnormal morphology of ulna, Split hand, Short humerus, Micromel... |
ORPHA:2019 |
| Brachydactyly-Elbow Wrist Dysplasia Syndrome |
|
Clinodactyly of the 5th finger, Abnormal morphology of ulna, Abnormality of the humerus, Brachyda... |
ORPHA:1275 |
| Deafness, X-Linked 6 |
|
Incomplete partition of the cochlea, Bilateral sensorineural hearing impairment |
OMIM:300914 |
| Langer Mesomelic Dysplasia |
|
Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula, Micromelia, Short femoral neck, Me... |
ORPHA:2632 |
| Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Clinodactyly of the 5th finger, Hip dysplasia, Finger syndactyly, Radioulnar synostosis |
ORPHA:71289 |
| Gollop-Wolfgang Complex |
|
Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia of the tibia, Hand monodactyly, ... |
ORPHA:1986 |
| Robin Sequence-Oligodactyly Syndrome |
|
Abnormal metacarpal morphology, Clinodactyly of the 5th finger, Abnormal morphology of ulna, Hand... |
ORPHA:3104 |
| Auditory Neuropathy, Autosomal Dominant 1 |
|
Sensorineural hearing impairment, Abnormal speech discrimination, Absence of acoustic reflex, Abn... |
OMIM:609129 |
| Humero-Radio-Ulnar Synostosis |
|
Elbow ankylosis, Radioulnar synostosis, Abnormal thumb morphology, Abnormal metacarpal morphology... |
ORPHA:3266 |
| Radioulnar Synostosis, Unilateral, With Developmental Retardation And Hypotonia |
|
Dislocated radial head, Radioulnar synostosis |
OMIM:266255 |
| Pacman Dysplasia |
|
Epiphyseal stippling, Bowing of the long bones |
OMIM:167220 |
| Opticocochleodentate Degeneration |
|
Optic atrophy, Hearing impairment, Cochlear degeneration, Spastic tetraplegia |
OMIM:258700 |
| Fibular Aplasia-Complex Brachydactyly Syndrome |
|
Abnormal morphology of ulna, Abnormal hip bone morphology, Aplasia/Hypoplasia of the fibula, Brac... |
ORPHA:2639 |
| Arms, Malformation Of |
|
Hypoplasia of the radius, Hypoplasia of the ulna, Radioulnar synostosis |
OMIM:107900 |
| Cochleosaccular Degeneration-Cataract Syndrome |
|
Ataxia, Cochlear degeneration, Progressive sensorineural hearing impairment |
ORPHA:3233 |
| Deafness, Autosomal Recessive 9 |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Absence of acoustic reflex |
OMIM:601071 |
| Ulnar Hypoplasia |
|
Ulnar deviation of the hand, Radial bowing, Hypoplasia of the radius, Hypoplasia of the ulna, Rad... |
OMIM:191440 |
| Heart-Hand Syndrome Type 2 |
|
Abnormal morphology of ulna, Abnormality of the humerus, Micromelia, Brachydactyly, Abnormality o... |
ORPHA:1350 |
| Deafness, Autosomal Dominant 77 |
|
Sensorineural hearing impairment, Tinnitus, Morphological abnormality of the inner ear |
OMIM:618915 |
| Spinocerebellar Ataxia, Autosomal Recessive 3 |
|
Hearing impairment, Cochlear degeneration, Ataxia |
OMIM:271250 |
| Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
|
Sensorineural hearing impairment, Incomplete partition of the cochlea type II, Enlarged vestibula... |
OMIM:600791 |
| Ulna Metaphyseal Dysplasia Syndrome |
|
Abnormal morphology of ulna, Abnormal hip bone morphology, Abnormality of fibula morphology, Abno... |
ORPHA:1837 |
| Acrorenal Syndrome |
|
Aplasia/Hypoplasia of the radius, Split hand, Abnormal morphology of ulna, Abnormality of tibia m... |
ORPHA:971 |
| Deafness, Autosomal Dominant 80 |
|
Dilated vestibule of the inner ear, Congenital sensorineural hearing impairment, Morphological ab... |
OMIM:619274 |
| Upper Limb Mesomelic Dysplasia |
|
Hypoplasia of the ulna, Radial bowing, Ulnar deviation of finger |
ORPHA:2497 |
| Léri-Weill Dyschondrosteosis |
|
Abnormality of femur morphology, Hypoplasia of the radius, Cone-shaped epiphysis, Micromelia, Abn... |
ORPHA:240 |
| Leri-Weill Dyschondrosteosis |
|
Short toe, Tibial bowing, Abnormal femoral neck morphology, Radial bowing, Coxa valga, Abnormal c... |
OMIM:127300 |
| Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment, Vestibular dysf... |
OMIM:616515 |
| Weismann-Netter Syndrome |
|
Abnormality of femur morphology, Tibial bowing, Abnormal morphology of ulna, Abnormal hip bone mo... |
ORPHA:3344 |
| Langer Mesomelic Dysplasia |
|
Radial bowing, Hypoplasia of the radius, Broad ulna, Short tibia, Rudimentary fibula, Short femor... |
OMIM:249700 |
| Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Abnormal morphology of ulna, Micromelia, Synostosis of carpal bones, Abnormality of tibia morphol... |
ORPHA:2634 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Femoral bowing, Short long bone, Metaphyseal cupping of proximal phalanges, Metaphyseal irregular... |
ORPHA:174 |
| Mesomelic Dysplasia, Nievergelt Type |
|
Clinodactyly of the 5th finger, Abnormal morphology of ulna, Finger syndactyly, Camptodactyly of ... |
ORPHA:2633 |
| Ulnar Hypoplasia With Lobster-Claw Deformity Of Feet |
|
Hypoplasia of the ulna, Short finger, Syndactyly, Split foot |
OMIM:314360 |
| Ulnar Hypoplasia-Split Foot Syndrome |
|
Split hand, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius, Split foot |
ORPHA:1122 |
| Prenatal Bowing |
|
Bowing of the long bones |
OMIM:264050 |
| Acheiropodia |
|
Aplasia of the ulna, Absent hand, Upper limb phocomelia, Short humerus, Abnormal epiphysis morpho... |
ORPHA:931 |
| Postaxial Oligodactyly, Tetramelic |
|
Aplasia of the 5th metacarpal, Radial bowing, Lunate-triquetral fusion, Absent fifth metatarsal, ... |
OMIM:176240 |
| Boomerang Dysplasia |
|
Abnormality of femur morphology, Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula, A... |
ORPHA:1263 |
| Radial Hemimelia |
|
Abnormality of the scaphoid, Abnormality of the trapezium, Deviation of the hand or of fingers of... |
ORPHA:93321 |
| Immunodeficiency 32A |
|
Lymphadenopathy |
OMIM:614893 |
| Benign Paroxysmal Torticollis Of Infancy |
|
Torticollis, Vertigo, Ataxia, Abnormal head movements |
ORPHA:71518 |
| Distal Monosomy 10Q |
|
Facial diplegia, Congenital sensorineural hearing impairment, Protruding ear, Cochlear malformati... |
ORPHA:96148 |
| Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
|
Aplasia/Hypoplasia of the ulna, Talipes equinovarus, Aplasia/Hypoplasia of the fibula, Brachydact... |
ORPHA:52056 |
| Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction |
|
Ataxia, Slowed slurred speech, Cochlear degeneration, Progressive sensorineural hearing impairment |
OMIM:172500 |
| Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Upper limb metaphyseal widening, Humerus varus, Hypoplasia of the ulna, Flared femoral metaphysis... |
ORPHA:85188 |
| Mohr-Tranebjaerg Syndrome |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Postlingual sensorineural ... |
ORPHA:52368 |
| Dyschondrosteosis And Nephritis |
|
Radial bowing, Short tibia, Madelung deformity, Ulnar bowing, Short forearm |
OMIM:127350 |
| Leri-Weill dyschondrostosis (LWD) - SHOX deletion |
|
Radial bowing, Limited pronation/supination of forearm, Madelung deformity |
DECIPHER:58 |
| Pendred Syndrome |
|
Sensorineural hearing impairment, Ataxia, Enlarged vestibular aqueduct, Vertigo, Hypoplasia of th... |
ORPHA:705 |
| Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency |
|
Lymphadenopathy |
ORPHA:319600 |
| Acromesomelic Dysplasia 2C |
|
Distal femoral bowing, Radial bowing, Hypoplasia of the radius, Short tibia, Shortening of all pr... |
OMIM:201250 |
| Deafness, Autosomal Dominant 9 |
|
Postlingual sensorineural hearing impairment, Tinnitus, Cochlear degeneration, Vertigo, Abnormali... |
OMIM:601369 |
| Ulnar Hemimelia |
|
Aplasia/Hypoplasia of the ulna, Upper limb phocomelia, Radial club hand, Glenoid fossa hypoplasia... |
ORPHA:93320 |
| Pendred Syndrome |
|
Vestibular dysfunction, Congenital sensorineural hearing impairment, Cochlear malformation |
OMIM:274600 |
| Usher Syndrome Type 3 |
|
Sensorineural hearing impairment, Vestibular hypofunction, Abnormal cochlea morphology, Ataxia |
ORPHA:231183 |
| Branchiootorenal Syndrome 1 |
|
Sensorineural hearing impairment, Conductive hearing impairment, Dilatated internal auditory cana... |
OMIM:113650 |
| Usher Syndrome Type 1 |
|
Sensorineural hearing impairment, Vestibular hypofunction, Abnormal cochlea morphology, Ataxia |
ORPHA:231169 |
| Insulin-Like Growth Factor I Deficiency |
|
Sensorineural hearing impairment, Hyperactivity, Short stature, Osteopenia, Delayed skeletal matu... |
OMIM:608747 |
| Brachydactyly Type A1 |
|
Broad metacarpals, Clinodactyly of the 5th finger, Talipes equinovarus, Distal symphalangism of h... |
ORPHA:93388 |
| Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1) |
|
Abnormality of the lymph nodes |
OMIM:136580 |
| Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Clinodactyly of the 5th finger, ... |
ORPHA:2141 |
| Apert Syndrome |
|
Sensorineural hearing impairment, Conductive hearing impairment, Vertebral segmentation defect, H... |
ORPHA:87 |
| Deafness, X-Linked 2 |
|
Stapes ankylosis, Congenital sensorineural hearing impairment, Conductive hearing impairment, Dil... |
OMIM:304400 |
| Fraxe Intellectual Disability |
|
Prominent ear helix, Clumsiness, Recurrent hand flapping, Hyperactivity, Stereotypical body rocki... |
ORPHA:100973 |
| Chromosome Xq21 Deletion Syndrome |
|
Conductive hearing impairment, Incomplete partition of the cochlea, Hearing impairment, Progressi... |
OMIM:303110 |
| Ravine Syndrome |
|
Ataxia, Spasticity, Abnormal auditory evoked potentials |
ORPHA:99852 |
| Episodic Ataxia Type 4 |
|
Ataxia, Incoordination, Frequent falls, Abnormal head movements, Vertigo |
ORPHA:79136 |
| Fragile X Syndrome |
|
Recurrent hand flapping, Hyperactivity, Scoliosis, Joint laxity, Abnormal head movements, Macrotia |
OMIM:300624 |
| Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Aplasia/Hypoplasia of the ulna, Hypoplasia of the radius, Femoral bowing, Congenital hip dislocat... |
OMIM:228930 |
| Deafness-Hypogonadism Syndrome |
|
Conductive hearing impairment, Stapes ankylosis, Abnormality of the middle ear ossicles, Abnormal... |
ORPHA:90646 |
| Dextrocardia With Unusual Facies And Microphthalmia |
|
Vertebral segmentation defect, Vertebral fusion, Choreoathetosis, Macrotia |
OMIM:221950 |
| Osebold-Remondini Syndrome |
|
Carpal synostosis, Short toe, Dysplastic distal radial epiphyses, Hypoplasia of the radius, Short... |
OMIM:112910 |
| Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy |
OMIM:601382 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Coxa vara, Tibial bowing, Metaphyseal cupping, Radial bowing, Flared iliac wing, Femoral bowing, ... |
OMIM:602111 |
| Tetrasomy X |
|
Brachydactyly, Clinodactyly of the 5th finger, Hip dysplasia, Radioulnar synostosis |
ORPHA:9 |
| Branchiootic Syndrome 1 |
|
Sensorineural hearing impairment, Low-set ears, Cochlear malformation, Microtia, Dilatated intern... |
OMIM:602588 |
| Intellectual Developmental Disorder, X-Linked 104 |
|
Abnormal pinna morphology, Ataxia, Hyperactivity, Optic atrophy, Tremor, Spasticity |
OMIM:300983 |
| Gorham-Stout Disease |
|
Torticollis, Bone pain, Osteomyelitis, Abnormal bone ossification, Osteopenia, Osteolysis involvi... |
ORPHA:73 |
| Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Motor stereotypy, Kyphosis, Hypertonia, Hyperactivity, Joint contracture of the hand, Short statu... |
ORPHA:352490 |
| Primary Dystonia, Dyt13 Type |
|
Torticollis, Motor stereotypy, Action tremor, Torsion dystonia, Jerky head movements, Craniofacia... |
ORPHA:98807 |
| Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Low-set ears, Hyperactivity |
ORPHA:436151 |
| Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome |
|
Hyperkinetic movements, Stereotypical hand wringing, Macrotia |
ORPHA:397933 |
| Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Torticollis, Hypoplasia of... |
OMIM:609136 |
| Waardenburg Syndrome, Type 2E |
|
Sensorineural hearing impairment, Dilated vestibule of the inner ear, Hypoplasia of the semicircu... |
OMIM:611584 |
| Mesomelic Dysplasia, Kantaputra Type |
|
Mesomelia, Carpal synostosis, Radial bowing, Tarsal synostosis |
OMIM:156232 |
| Intellectual Developmental Disorder, Autosomal Recessive 73 |
|
Recurrent hand flapping, Poor coordination, Osteopenia, Scoliosis, Gait ataxia, Low-set ears, Pos... |
OMIM:619717 |
| Autosomal Dominant Spastic Ataxia Type 1 |
|
Hypertonia, Spastic ataxia, Limb ataxia, Impaired vibration sensation in the lower limbs, Babinsk... |
ORPHA:251282 |
| Isolated Klippel-Feil Syndrome |
|
Cervical C2/C3 vertebral fusion, Hemiplegia/hemiparesis, Abnormal vertebral segmentation and fusi... |
ORPHA:2345 |
| Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Kyphosis, Flexion contracture, Neonatal death, Optic atrophy, Spastic tetraplegia, Hearing impair... |
OMIM:618237 |
| Spondyloperipheral Dysplasia |
|
Cone-shaped epiphyses of the phalanges of the hand, Shortening of all proximal phalanges of the f... |
OMIM:271700 |
| Autosomal Recessive Spastic Paraplegia Type 44 |
|
Sensorineural hearing impairment, Abnormality of somatosensory evoked potentials, Ataxia, Abnorma... |
ORPHA:320401 |
| Chromosome 3Q29 Deletion Syndrome |
|
Motor stereotypy, Gait ataxia, Macrotia, Low-set ears, Posteriorly rotated ears |
OMIM:609425 |
| Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Motor stereotypy, Ataxia, Hydrocephalus, Attention deficit hyperactivity disorder, Abnormal verte... |
OMIM:618709 |
| Mesomelic Dysplasia, Savarirayan Type |
|
Hypoplasia of proximal radius, Flared radial metaphysis, High iliac wing, Metatarsus valgus, Glen... |
ORPHA:85170 |
| Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Motor stereotypy, Kyphoscoliosis, Hyperactivity, Short stature, Macrotia, Anteverted ears |
OMIM:615541 |
| Acromesomelic Dysplasia 2A |
|
Short femur, Hypoplasia of the radius, Short tibia, Short humerus, Aplasia/Hypoplasia of the pate... |
OMIM:200700 |
| Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome |
|
Progressive cerebellar ataxia, Head tremor, Spastic dysarthria, Optic atrophy, Gait ataxia, Cochl... |
ORPHA:95433 |
| Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome |
|
Abnormal metacarpal morphology, Abnormal morphology of ulna |
ORPHA:2233 |
| Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Aplasia of the ulna, Hand monodactyly, Bifid femur, Split hand, Foot monodactyly, Absent tibia |
OMIM:228250 |
| Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Large fleshy ears, Hypertonia, Ataxia, Motor stereotypy, Overfolded helix, Myoclonus, Tremor, Tho... |
OMIM:619092 |
| Tibial Aplasia-Ectrodactyly Syndrome |
|
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Ectrodactyly, Aplasia/Hypoplasia... |
ORPHA:3329 |
| Ulnar Hypoplasia With Mental Retardation |
|
Bilateral ulnar hypoplasia, Talipes equinovarus, Limited elbow movement |
OMIM:276821 |
| Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Aplasia/Hypoplasia of the ulna, Aplasia of the 3rd finger, Split foot, Short hallux, Hand monodac... |
OMIM:119100 |
| Acheiropody |
|
Aplasia of the ulna, Absent hand, Short tibia, Lower limb peromelia, Carpal bone aplasia, Short h... |
OMIM:200500 |
| Jeavons Syndrome |
|
EEG with focal spikes, EEG with photoparoxysmal response, EEG with hyperventilation-induced epile... |
ORPHA:139431 |
| Chorea, Childhood-Onset, With Psychomotor Retardation |
|
Involuntary movements, Abnormal head movements, Chorea |
OMIM:616939 |
| Optic Atrophy 8 |
|
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... |
OMIM:616648 |
| Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, EEG abnormality, Choreoath... |
OMIM:617519 |
| Acrocapitofemoral Dysplasia |
|
Cone-shaped epiphyses of the phalanges of the hand, Hypoplasia of the radius, Cone-shaped epiphys... |
OMIM:607778 |
| Multiple Epiphyseal Dysplasia Type 4 |
|
Short metacarpal, Upper limb undergrowth, Arthralgia of the hip, Abnormal hand morphology, Genu v... |
ORPHA:93307 |
| Müllerian Duct Anomalies-Limb Anomalies Syndrome |
|
Aplasia/Hypoplasia of the ulna, Split hand, Short humerus, Micromelia, Postaxial hand polydactyly... |
ORPHA:2491 |
| Ophthalmomandibulomelic Dysplasia |
|
Radial bowing, Coxa valga, Lateral humeral condyle aplasia, Ulnar deviated club hands, Mesomelia,... |
OMIM:164900 |
| Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Ataxia, Optic atrophy, Spasticity, Abnormal auditory evoked potentials, Progressive sensorineural... |
OMIM:125250 |
| Fibular Hemimelia |
|
Arthralgia of the hip, Abnormality of fibula morphology, Genu valgum, Hip subluxation, Disproport... |
ORPHA:93323 |
| Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type |
|
Hypoplasia of the radius, Short tibia, Pseudoarthrosis |
OMIM:156230 |
| Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Motor stereotypy, EEG abnormality, Tremor, Spasticity, Low-set ears |
OMIM:618718 |
| Ulna And Fibula, Hypoplasia Of |
|
Hypoplasia of the ulna, Fibular hypoplasia |
OMIM:191400 |
| Huntington Disease-Like 1 |
|
Clumsiness, Bradykinesia, Poor fine motor coordination, Dysmetria, EEG abnormality, Jerky head mo... |
ORPHA:157941 |
| Acrodysostosis |
|
Short toe, Abnormal morphology of ulna, Hypoplasia of the radius, Cone-shaped epiphysis, Micromel... |
ORPHA:950 |
| Crouzon Syndrome |
|
Conductive hearing impairment, Hydrocephalus, Optic atrophy, Multiple suture craniosynostosis, Na... |
ORPHA:207 |
| Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Aplasia/Hypoplasia of the thumb, Mesomelic arm shortening, Absent radius, Short humerus, Shoulder... |
OMIM:171480 |
| Intellectual Developmental Disorder, X-Linked 101 |
|
Optic atrophy, Hyperactivity, Macrotia |
OMIM:300928 |
| Pseudoachondroplasia |
|
Fragmented epiphyses, Irregular carpal bones, Fragmented, irregular epiphyses, Small epiphyses of... |
OMIM:177170 |
| Guanidinoacetate Methyltransferase Deficiency |
|
Ataxia, Hyperactivity, Abnormality of extrapyramidal motor function, Chorea, Athetosis, Progressi... |
ORPHA:382 |
| Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Parkinsonism with favorable response to dopaminergic medication, Progressive extrapyramidal muscu... |
ORPHA:240103 |
| Deafness, Autosomal Recessive 118, With Cochlear Aplasia |
|
Vestibular dysfunction, Congenital sensorineural hearing impairment, Cochlear aplasia |
OMIM:619553 |
| Wildervanck Syndrome |
|
Fused cervical vertebrae, Abnormality of the outer ear, Hearing impairment, Pseudopapilledema |
OMIM:314600 |
| Ophthalmomandibulomelic Dysplasia |
|
Lateral humeral condyle aplasia, Camptodactyly of finger, Micromelia, Synostosis of carpal bones,... |
ORPHA:2741 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Clinodactyly of the 5th finger, Radial bowing, Limited pronation/supination of forearm, Proximal ... |
OMIM:605432 |
| Optic Atrophy 11 |
|
Facial diplegia, Ataxia, Hyperactivity, Dysmetria, Short stature, Hyperkinetic movements, Optic a... |
OMIM:617302 |
| Nievergelt Syndrome |
|
Talipes equinovarus, Radioulnar synostosis, Metatarsal synostosis, Mesomelia, Genu valgum, Tarsal... |
OMIM:163400 |
| Branchiogenic Deafness Syndrome |
|
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal pinna morphology, Abnor... |
ORPHA:50815 |
| Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome |
|
Ectrodactyly, Upper limb phocomelia, Radial club hand, Short humerus, Hypoplasia of the ulna, Abn... |
ORPHA:2878 |
| Intellectual Developmental Disorder, Autosomal Dominant 26 |
|
Kyphosis, Hypertonia, Hyperactivity, Short stature, Cerebral palsy, Scoliosis, Arthrogryposis mul... |
OMIM:615834 |
| Lethal Faciocardiomelic Dysplasia |
|
Hypoplasia of the radius, Radial club hand, Short tibia, Bilateral single transverse palmar creas... |
ORPHA:1972 |
| Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Aplasia/Hypoplasia of the ulna, Hand oligodactyly, Absent thumb, Hypoplasia of the radius, Mesome... |
OMIM:602418 |
| Ogden Syndrome |
|
Torticollis, Hypertonia, Delayed cranial suture closure, Scoliosis, Abnormal head movements, Macr... |
ORPHA:276432 |
| Prader-Willi Syndrome Due To Imprinting Mutation |
|
Small hand, Narrow palm, Short foot, Abnormal ulnar metaphysis morphology |
ORPHA:177910 |
| 4Q21 Microdeletion Syndrome |
|
Motor stereotypy, Low-set ears, Kyphosis, Short neck, Scoliosis, Tremor, Growth delay, Hearing im... |
ORPHA:238750 |
| Noonan Syndrome |
|
Sensorineural hearing impairment, Aplasia of the semicircular canal, Short stature, Scoliosis, Lo... |
ORPHA:648 |
| Thalidomide Embryopathy |
|
Aplasia/Hypoplasia of the ulna, Upper limb phocomelia, Aplasia/hypoplasia of the humerus, Radial ... |
ORPHA:3312 |
| Intellectual Developmental Disorder, Autosomal Dominant 7 |
|
Motor stereotypy, Abnormal pinna morphology, Ataxia, Hyperactivity, Short stature, Birth length l... |
OMIM:614104 |
| Charge Syndrome |
|
Overfolded helix, Hemivertebrae, Optic atrophy, Intrauterine growth retardation, Abnormality of t... |
ORPHA:138 |
| Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Motor stereotypy, Hydrocephalus, Hyperactivity, Optic atrophy, Tremor, Elbow flexion contracture,... |
OMIM:619470 |
| Kbg Syndrome |
|
Short stature, Vertebral fusion, Short neck, Bilateral conductive hearing impairment, Scoliosis, ... |
ORPHA:2332 |
| Intellectual Developmental Disorder With Autism And Dysmorphic Facies |
|
Attention deficit hyperactivity disorder, Low-set ears, Scoliosis, Recurrent hand flapping |
OMIM:620021 |
| Aarskog-Scott Syndrome |
|
Genu recurvatum, Short stature, Abnormal vertebral segmentation and fusion, Camptodactyly of fing... |
ORPHA:915 |
| Dysspondyloenchondromatosis |
|
Abnormality of fibula morphology, Genu valgum, Abnormal ulnar metaphysis morphology, Metaphyseal ... |
ORPHA:85198 |
| Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Broad phalanx, Cone-shaped epiphyses of the phalanges of the hand, Short long bone, Metaphyseal i... |
OMIM:300106 |
| Autism, Susceptibility To, X-Linked 3 |
|
Motor stereotypy, EEG abnormality |
OMIM:300496 |
| Autism, Susceptibility To, 8 |
|
Motor stereotypy, EEG abnormality |
OMIM:607373 |
| Autism, Susceptibility To, X-Linked 1 |
|
Motor stereotypy, EEG abnormality |
OMIM:300425 |
| Autism |
|
Motor stereotypy, EEG abnormality |
OMIM:209850 |
| Chromosome 15Q11-Q13 Duplication Syndrome |
|
Motor stereotypy, EEG abnormality |
OMIM:608636 |
| Laurin-Sandrow Syndrome |
|
Absent radius, Syndactyly, Triphalangeal thumb, Patellar aplasia, Short foot, Hand polydactyly, F... |
OMIM:135750 |
| Ulna Hypoplasia-Intellectual Disability Syndrome |
|
Hypoplasia of the radius, Broad hallux phalanx, Micromelia, Ulnar deviation of finger, Hypoplasia... |
ORPHA:2249 |
| Christianson Syndrome |
|
Motor stereotypy, Truncal ataxia, Death in early adulthood, Gait ataxia, Arthrogryposis multiplex... |
ORPHA:85278 |
| Charcot-Marie-Tooth Disease, Type 4D |
|
Hearing impairment, Decreased nerve conduction velocity, Abnormal auditory evoked potentials |
OMIM:601455 |
| Abcd Syndrome |
|
Neonatal death, Abnormal auditory evoked potentials, Total intestinal aganglionosis, Hearing impa... |
OMIM:600501 |
| Oslam Syndrome |
|
Radial deviation of finger, Clinodactyly, Radioulnar synostosis |
OMIM:165660 |
| Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal pinna morphology, Cervi... |
OMIM:214300 |
| Aminoacylase 1 Deficiency |
|
Sensorineural hearing impairment, Hyperactivity |
OMIM:609924 |
| Developmental And Epileptic Encephalopathy 58 |
|
Motor stereotypy, Spastic diplegia, Optic atrophy, Hypsarrhythmia |
OMIM:617830 |
| Pontocerebellar Hypoplasia, Type 11 |
|
Motor stereotypy, Ataxia, Limb ataxia, Poor coordination, Spasticity, Macrotia |
OMIM:617695 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Carpal synostosis, Hip contracture, Multiple pterygia, Spondylolisthesis, Craniosynostosis, Short... |
OMIM:178110 |
| Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Sensorineural hearing impairment, Motor stereotypy, Protruding ear, Hyperactivity, Short stature,... |
OMIM:618342 |
| Saethre-Chotzen Syndrome |
|
Abnormal antihelix morphology, Sensorineural hearing impairment, Conductive hearing impairment, S... |
ORPHA:794 |
| Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Sensorineural hearing impairment, Motor stereotypy, Hyperactivity, Scoliosis, Tracheobronchomalac... |
OMIM:617751 |
| Lateral Meningocele Syndrome |
|
Conductive hearing impairment, Abnormality of the middle ear ossicles, Kyphosis, Sclerosis of sku... |
OMIM:130720 |
| Holt-Oram Syndrome |
|
Aplasia of the ulna, Short clavicles, Absent thumb, Hypoplasia of the radius, Partial duplication... |
OMIM:142900 |
| Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Flattened femoral head, Hip dysplasia, Aplasia/hypoplasia involving bones of the extremities, Irr... |
ORPHA:1856 |
| Bor Syndrome |
|
Abnormality of the middle ear ossicles, Stenosis of the external auditory canal, Facial palsy, Ex... |
ORPHA:107 |
| Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Facial palsy, Tongue fasciculations, Abnormal cranial ... |
OMIM:601596 |
| Wt Limb-Blood Syndrome |
|
Clinodactyly of the 5th finger, Absent thumb, Ulnar deviation of thumb, Ulnar deviation of the 3r... |
OMIM:194350 |
| Smith-Magenis Syndrome |
|
Motor stereotypy, Hyperactivity, Short stature, Scoliosis, Impaired pain sensation, Morphological... |
OMIM:182290 |
| Dentici-Novelli Neurodevelopmental Syndrome |
|
Motor stereotypy, Hypertonia, Hypsarrhythmia, Macrotia, Hearing impairment |
OMIM:619877 |
| Distal Limb Deficiencies-Micrognathia Syndrome |
|
Abnormal morphology of ulna, Split foot, Aplasia/Hypoplasia of the radius, Abnormal metacarpal mo... |
ORPHA:1307 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Motor stereotypy, Tremor, Ataxia, Short stature |
OMIM:617862 |
| Snijders Blok-Campeau Syndrome |
|
Motor stereotypy, Low-set ears, Scoliosis, Speech apraxia |
OMIM:618205 |
| Xq21 Microdeletion Syndrome |
|
Sensorineural hearing impairment, Stapes ankylosis, Conductive hearing impairment, Ataxia, Growth... |
ORPHA:1435 |
| Wildervanck Syndrome |
|
Congenital sensorineural hearing impairment, Short neck, Pseudopapilledema, Fused cervical verteb... |
ORPHA:3456 |
| Arnold-Chiari Malformation Type I |
|
Cervical C2/C3 vertebral fusion, Progressive cerebellar ataxia, Cranial nerve compression, Abnorm... |
ORPHA:268882 |
| Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density |
|
Short femur, Hypoplasia of the radius, Short tibia, Lytic defects of humeral diaphysis, Hypoplasi... |
OMIM:601376 |
| Intellectual Developmental Disorder, X-Linked 72 |
|
Motor stereotypy, Hyperactivity, Short stature |
OMIM:300271 |
| Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Large earlobe, Prominent ear helix, Motor stereotypy, Myoclonus, Hypsarrhythmia, Multifocal epile... |
ORPHA:411986 |
| Multiple Pterygium Syndrome, X-Linked |
|
Multiple pterygia, Joint dislocation, Flexion contracture, Abnormal cervical curvature, Increased... |
OMIM:312150 |
| Late-Infantile/Juvenile Krabbe Disease |
|
Hemiplegia, EEG with persistent abnormal rhythmic activity, Ataxia, Upper motor neuron dysfunctio... |
ORPHA:206443 |
| Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language |
|
EEG abnormality, Recurrent hand flapping, Macrotia |
OMIM:617268 |
| Cardiospondylocarpofacial Syndrome |
|
Conductive hearing impairment, Congenital sensorineural hearing impairment, Carpal synostosis, Jo... |
OMIM:157800 |
| Eye Defects-Arachnodactyly-Cardiopathy Syndrome |
|
Clinodactyly of the 5th finger, Abnormal hip bone morphology, Arachnodactyly, Radioulnar synostos... |
ORPHA:2725 |
| Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Abnormal antihelix morphology, Kyphosis, Hypoplastic vertebral bodies, Short stature, Hemivertebr... |
ORPHA:2916 |
| Distal Renal Tubular Acidosis |
|
Sensorineural hearing impairment, Reduced bone mineral density, Short stature, Osteomalacia, Enla... |
ORPHA:18 |
| Microcephaly, Short Stature, And Limb Abnormalities |
|
Dislocated radial head, Clinodactyly of the 5th finger, Hypoplasia of the radius, Brachydactyly, ... |
OMIM:617604 |
| Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination |
|
Motor stereotypy, Scoliosis, Spasticity, Flexion contracture |
OMIM:617393 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Ataxia, Orthostatic hypotension, Babinski sign, Autonomic bladder dysfunction, Tremor, Spasticity... |
ORPHA:99027 |
| Coffin-Siris Syndrome 6 |
|
Motor stereotypy, Conductive hearing impairment, Kyphoscoliosis, Short stature, Wormian bones, Lo... |
OMIM:617808 |
| Multiple Pterygium Syndrome, Lethal Type |
|
Multiple pterygia, Joint dislocation, Flexion contracture, Abnormal cervical curvature, Increased... |
OMIM:253290 |
| Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Short neck, Platyspondyly, Biconcave vertebral bodies, Disproportionate short-trunk short stature... |
ORPHA:93315 |
| Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Hypertonia, Ataxia, Exaggerated startle response, Ankle clonus, Babinski sign, Abnormal pyramidal... |
OMIM:618598 |
| Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Holoprosencephaly, Low-set, posteriorly rotated ears, Abnormal cranial nerve morphology, Narrow i... |
ORPHA:990 |
| Developmental And Epileptic Encephalopathy 97 |
|
Tremor, Stereotypical hand wringing, Hypsarrhythmia |
OMIM:619561 |
| Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Ataxia, Temporal optic dis... |
ORPHA:1215 |
| Intellectual Developmental Disorder, Autosomal Recessive 61 |
|
Hyperactivity, Dysmetria, Babinski sign, Scoliosis, Joint laxity, Spasticity, Clonus, Low-set ear... |
OMIM:617773 |
| Bresek Syndrome |
|
Low-set ears, Protruding ear, Hydrocephalus, Hemivertebrae, Optic nerve hypoplasia, Scoliosis, Ne... |
ORPHA:85284 |
| Baker-Gordon Syndrome |
|
Motor stereotypy, Ataxia, Scoliosis, Hyperkinetic movements, Choreoathetosis, Joint laxity, Invol... |
OMIM:618218 |
| Ck Syndrome |
|
Kyphoscoliosis, Lumbar hyperlordosis, Hyperactivity, Joint hypermobility, Posteriorly rotated ears |
ORPHA:251383 |
| Cenani-Lenz Syndactyly Syndrome |
|
Hypoplasia of the radius, Syndactyly, Hypoplasia of the ulna |
OMIM:212780 |
| Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Vertebral segmentation defect, Kyphoscoliosis, Back pain, Severe short stature, Short stature, He... |
OMIM:277300 |
| Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Ataxia, Recurrent hand flapping, Poor coordination, Tremor, Macrotia, Anteverted ears, Abnormalit... |
ORPHA:544254 |
| Ck Syndrome |
|
Kyphosis, Hyperactivity, Scoliosis, Hyperlordosis, Joint hypermobility, Posteriorly rotated ears |
OMIM:300831 |
| Brachymesomelia-Renal Syndrome |
|
Hypoplasia of the radius, Single transverse palmar crease, Mesomelic arm shortening, Fibular hypo... |
OMIM:113470 |
| Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
|
Motor stereotypy, Ataxia, EEG abnormality, Poor coordination, Chorea, Paroxysmal dyskinesia |
OMIM:619150 |
| Smith-Magenis syndrome |
|
Motor stereotypy, Hyperactivity, Short stature |
DECIPHER:8 |
| Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities |
|
Motor stereotypy, Attention deficit hyperactivity disorder |
OMIM:617787 |
| Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Motor stereotypy, Kyphoscoliosis, Hyperactivity, Short stature, Scoliosis, Macrotia |
ORPHA:391307 |
| Mannosidosis, Beta A, Lysosomal |
|
Hearing impairment, Hyperactivity |
OMIM:248510 |
| Dyschondrosteosis-Nephritis Syndrome |
|
Radial bowing, Micromelia, Aplasia/Hypoplasia of the radius, Madelung deformity, Ulnar bowing |
ORPHA:1765 |
| Xq28 (MECP2) duplication |
|
Progressive spasticity, Motor stereotypy, Gait ataxia, Macrotia |
DECIPHER:45 |
| Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter |
|
Motor stereotypy, Abnormal pinna morphology, Optic atrophy, Gait ataxia, Spasticity, Dystonia |
OMIM:617807 |
| Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia |
|
Profound sensorineural hearing impairment, Microtia, first degree, Aplasia of the inner ear, Ante... |
OMIM:610706 |
| Diamond-Blackfan Anemia 11 |
|
Absent thumb, Hypoplasia of the radius, Radioulnar synostosis, Hypoplasia of the ulna, Abnormal d... |
OMIM:614900 |
| 48,Xxyy Syndrome |
|
Motor stereotypy, Ataxia, Scoliosis, Chronic otitis media, Radioulnar synostosis, Tremor, Attenti... |
ORPHA:10 |
| Mend Syndrome |
|
Kyphosis, Hydrocephalus, Hypertonia, Hyperactivity, Short stature, Low-set ears |
OMIM:300960 |
| Intellectual Developmental Disorder With Autism And Macrocephaly |
|
Clumsiness, Posteriorly rotated ears, Recurrent hand flapping |
OMIM:615032 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 2 |
|
Radial bowing |
OMIM:617993 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Kyphosis, Abnormal pinna morphology, Hyperactivity, Short stature, Tremor, Gait ataxia, Joint lax... |
OMIM:300354 |
| Faciocardiomelic Dysplasia, Lethal |
|
Hypoplasia of the radius, Short 5th finger, Hypoplasia of the ulna, Single transverse palmar crea... |
OMIM:227270 |
| Acromesomelic Dysplasia 4 |
|
Metaphyseal irregularity, Broad phalanx, Short toe, Radial bowing, Short metatarsal, Short metaca... |
OMIM:619636 |
| Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive |
|
Motor stereotypy, Involuntary movements, Spasticity, EEG abnormality |
OMIM:617820 |
| Tick-Borne Encephalitis |
|
Abnormality of the vestibular nerve, Back pain, Abnormal autonomic nervous system physiology, Fac... |
ORPHA:297 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 2 |
|
Motor stereotypy, Hypertonia, Spastic tetraplegia, Arthrogryposis multiplex congenita, Intrauteri... |
OMIM:615282 |
| Acrocraniofacial Dysostosis |
|
Sensorineural hearing impairment, Abnormality of the outer ear, Conductive hearing impairment, Ab... |
OMIM:201050 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Sensorineural hearing impairment, Butterfly vertebrae, Short stature, Spinal dysraphism, Absence ... |
OMIM:617660 |
| Adult Krabbe Disease |
|
Hemiplegia, Ataxia, Clumsiness, EEG abnormality, Hoffmann sign, Babinski sign, Tetraparesis, Freq... |
ORPHA:206448 |
| Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
|
Cervical C2/C3 vertebral fusion, Flexion contracture, Short stature, Short neck, Thoracolumbar sc... |
OMIM:616549 |
| Duane Retraction Syndrome |
|
Sensorineural hearing impairment, Blepharospasm, Stenosis of the external auditory canal, Abnorma... |
ORPHA:233 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Aplasia/Hypoplasia of the ulna, Clinodactyly of the 5th finger, Finger syndactyly, Adducted thumb... |
ORPHA:3320 |
| Foxg1 Syndrome |
|
Motor stereotypy, Kyphoscoliosis, Short stature, Severe postnatal growth retardation, Myoclonus, ... |
ORPHA:561854 |
| X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Motor stereotypy, Short stature, Hyperkinetic movements, Tremor, Macrotia, Upper limb spasticity |
ORPHA:457240 |
| Asperger Syndrome, X-Linked, Susceptibility To, 2 |
|
Motor stereotypy |
OMIM:300497 |
| Asperger Syndrome, X-Linked, Susceptibility To, 1 |
|
Motor stereotypy |
OMIM:300494 |
| Asperger Syndrome, Susceptibility To, 1 |
|
Motor stereotypy |
OMIM:608638 |
| Asperger Syndrome, Susceptibility To, 2 |
|
Motor stereotypy |
OMIM:608631 |
| Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Motor stereotypy, Macrotia |
OMIM:618504 |
| Intellectual Developmental Disorder With Autism And Speech Delay |
|
Motor stereotypy |
OMIM:606053 |
| Otopalatodigital Syndrome Type 1 |
|
Increased bone mineral density, Abnormal vertebral segmentation and fusion, Synostosis of carpal ... |
ORPHA:90650 |
| Leber Congenital Amaurosis 1 |
|
Sensorineural hearing impairment, Optic disc drusen, Eye poking |
OMIM:204000 |
| Radius, Aplasia Of, With Cleft Lip/Palate |
|
Absent radius |
OMIM:179400 |
| X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome |
|
Hyperactivity, Scoliosis, Joint laxity, Spasticity, Hearing impairment |
ORPHA:457260 |
| Huntington Disease-Like 3 |
|
Flexion contracture, Extrapyramidal muscular rigidity, Extrapyramidal dyskinesia, Abnormality of ... |
ORPHA:157946 |
| Autosomal Recessive Non-Syndromic Intellectual Disability |
|
Motor stereotypy, EEG with focal epileptiform discharges, Chorea, EEG with generalized epileptifo... |
ORPHA:88616 |
| Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome |
|
Hyperactivity, Abnormal pyramidal sign, Optic atrophy, Hearing impairment, Intrauterine growth re... |
ORPHA:369939 |
| Intellectual Developmental Disorder, X-Linked 109 |
|
Recurrent hand flapping, Hyperactivity, Stereotypical body rocking, Poor coordination, Short stat... |
OMIM:309548 |
| Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Sensorineural hearing impairment, Conductive hearing impairment, Cervical C2/C3 vertebral fusion,... |
OMIM:118100 |
| Glycine Encephalopathy With Normal Serum Glycine |
|
Hip contracture, Hypertonia, Genu recurvatum, Exaggerated startle response, Flexion contracture, ... |
OMIM:617301 |
| Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Sensorineural hearing impairment, Motor stereotypy, Congenital sensorineural hearing impairment, ... |
ORPHA:500159 |
| Intellectual Developmental Disorder, X-Linked 30 |
|
Hydrocephalus, Clumsiness, Hyperactivity, Short stature, Macrotia |
OMIM:300558 |
| Kniest Dysplasia |
|
Enlarged joints, Joint stiffness, Laryngotracheomalacia, Flexion contracture of finger, Abnormal ... |
ORPHA:485 |
| Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Kyphosis, Short stature, Short neck, Hyperlordosis, Fused cervical vertebrae, Low-set ears |
ORPHA:2522 |
| Cri-Du-Chat Syndrome |
|
Motor stereotypy, Hypertonia, Abnormal pinna morphology, Hyperactivity, Stenosis of the external ... |
OMIM:123450 |
| Microcephaly With Cervical Spine Fusion Anomalies |
|
Vertebral fusion, Spinal instability, Short stature |
OMIM:251250 |
| Developmental And Speech Delay Due To Sox5 Deficiency |
|
Motor stereotypy, Butterfly vertebrae, Lumbar hyperlordosis, Scoliosis, Thoracic kyphoscoliosis, ... |
ORPHA:313892 |
| Multiple Osteochondromas |
|
Abnormality of femur morphology, Abnormal hand morphology, Abnormality of fibula morphology, Genu... |
ORPHA:321 |
| Proximal 16P11.2 Microdeletion Syndrome |
|
Sensorineural hearing impairment, Conductive hearing impairment, Motor stereotypy, Craniosynostos... |
ORPHA:261197 |
| Severe Intellectual Disability And Progressive Spastic Paraplegia |
|
Motor stereotypy, Genu recurvatum, Generalized joint laxity, Short stature, Babinski sign, Spasti... |
ORPHA:280763 |
| New-Onset Refractory Status Epilepticus |
|
EEG with spike-wave complexes, EEG with generalized epileptiform discharges, EEG with frontal epi... |
ORPHA:363558 |
| Acrofacial Dysostosis, RodrÃguez Type |
|
Aplasia/Hypoplasia of the ulna, Talipes equinovarus, Hand oligodactyly, Radioulnar synostosis, Ap... |
ORPHA:1788 |
| Ritscher-Schinzel Syndrome 4 |
|
Motor stereotypy, Ataxia, Short stature, Macrotia, Scoliosis, Chorea, Athetosis, Joint hypermobil... |
OMIM:619435 |
| Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract |
|
Stereotypical hand wringing, Spasticity, Hypsarrhythmia |
ORPHA:500545 |
| Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral segmentation defect, Myelomeningocele, Short stature, Hemivertebrae, Spina bifida occul... |
OMIM:613686 |
| Developmental And Epileptic Encephalopathy 107 |
|
Motor stereotypy |
OMIM:620033 |
| Ulnar Agenesis And Endocardial Fibroelastosis |
|
Aplasia of the ulna, Hand oligodactyly |
OMIM:276822 |
| Kyphomelic Dysplasia |
|
Tibial bowing, Radial bowing, Talipes equinovarus, Short femur, Femoral bowing, Flared metaphysis... |
OMIM:211350 |
| Rauch-Steindl Syndrome |
|
Motor stereotypy, Protruding ear, Miscarriage, Hyperactivity, Attached earlobe, Short stature, Pr... |
OMIM:619695 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Short distal phalanx of finger, Coxa vara, Tibial bowing, Clinodactyly of the 5th finger, Radial ... |
OMIM:210720 |
| Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Sensorineural hearing impairment, Torticollis, Kyphoscoliosis, Thoracic scoliosis, Motor stereoty... |
ORPHA:300570 |
| Acromesomelic Dysplasia 1 |
|
Broad metacarpals, Broad phalanx, Cone-shaped epiphyses of the phalanges of the hand, Long hallux... |
OMIM:602875 |
| Hyperprolinemia, Type I |
|
Motor stereotypy, Ataxia, EEG abnormality |
OMIM:239500 |
| Coffin-Siris Syndrome 7 |
|
Motor stereotypy, Low-set ears, Recurrent otitis media, Hyperactivity, Short stature, Sagittal cr... |
OMIM:618027 |
| Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Sensorineural hearing impairment, Cervical C2/C3 vertebral fusion, Motor stereotypy, Lumbar hyper... |
OMIM:617796 |
| Potocki-Lupski Syndrome |
|
Motor stereotypy, Hyperactivity, Short stature, Scoliosis, Hearing impairment |
OMIM:610883 |
| Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Abnormal humeral metaphysis morphology, Short distal phalanx of finger, Flared iliac wing, Carpal... |
ORPHA:93314 |
| Developmental And Epileptic Encephalopathy 30 |
|
Motor stereotypy, Hypsarrhythmia |
OMIM:616341 |
| Polydactyly, Postaxial, With Dental And Vertebral Anomalies |
|
Spinal canal stenosis, Kyphoscoliosis, Hypoplastic vertebral bodies, Hemivertebrae, Underfolded h... |
OMIM:263540 |
| Optic Atrophy-Intellectual Disability Syndrome |
|
Protruding ear, Abnormal helix morphology, Short stature, Optic nerve hypoplasia, Optic atrophy, ... |
ORPHA:401777 |
| Acromesomelic Dysplasia 3 |
|
Carpal synostosis, Short toe, Talipes equinovarus, Bilateral talipes equinovarus, Short 1st metac... |
OMIM:609441 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Ataxia, Hyperactivity, Myoclonus, Abnormal pyramidal sign, Tetraparesis, Tremor, Spasticity, Dyst... |
OMIM:615924 |
| Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Motor stereotypy, Kyphosis, Pain insensitivity, Overfolded helix, Scoliosis, Tremor, Attention de... |
OMIM:617061 |
| Atypical Rett Syndrome |
|
Kyphosis, Hand apraxia, Pill-rolling tremor, Scoliosis, Stereotypical hand wringing, Tongue thrus... |
ORPHA:3095 |
| Alazami Syndrome |
|
Motor stereotypy, Scoliosis, Stereotypical hand wringing, Postnatal growth retardation, Low-set ears |
ORPHA:319671 |
| Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Abnormal antihelix morphology, Kyphosis, Protruding ear, Motor stereotypy, Prominent metopic ridg... |
ORPHA:261144 |
| Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Abnormality of the ear, Flexion contracture, Oromotor apraxia, Hypoplastic helices, Attention def... |
ORPHA:391372 |
| Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Motor stereotypy, Ataxia, Cataplexy, Fractures of the long bones, Congenital hip dislocation, Sco... |
ORPHA:496641 |
| Inverted Duplicated Chromosome 15 Syndrome |
|
Motor stereotypy, Hyperactivity, Low-set, posteriorly rotated ears, Joint hypermobility, Growth d... |
ORPHA:3306 |
| Immunodeficiency 43 |
|
Hypoplasia of the ulna, Radial bowing |
OMIM:241600 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Kyphosis, Scoliosis, Hyperlordosis, Frequent falls, Facial palsy, Vertebral fusion, Achilles tend... |
OMIM:606612 |
| Intellectual Developmental Disorder, Autosomal Recessive 58 |
|
Motor stereotypy, Spastic diplegia, Choreoathetosis, Short stature |
OMIM:617270 |
| Cerebral Creatine Deficiency Syndrome 1 |
|
Motor stereotypy, Hypertonia, Aganglionic megacolon, Short stature, Underfolded superior helices,... |
OMIM:300352 |
| Juberg-Hayward Syndrome |
|
Abnormality of finger, Hypoplasia of the radius, Radioulnar synostosis, Hammertoe, Abnormal metac... |
ORPHA:2319 |
| Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Sensorineural hearing impairment, Severe intrauterine growth retardation, Congenital sensorineura... |
ORPHA:73272 |
| Intellectual Disability, Birk-Barel Type |
|
Protruding ear, Hyperactivity, Congenital finger flexion contractures, Limited elbow flexion/exte... |
ORPHA:166108 |
| Isotretinoin-Like Syndrome |
|
Hydrocephalus, Microtia, Anotia, Aplasia/Hypoplasia of the inner ear, Atresia of the external aud... |
ORPHA:2306 |
| 22Q11.2 Duplication Syndrome |
|
Motor stereotypy, Scoliosis, Attention deficit hyperactivity disorder, Anterior creases of earlob... |
ORPHA:1727 |
| Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Absent brainstem auditory responses, Spastic tetraplegia, Head titubation, Vestibular areflexia |
ORPHA:3240 |
| Lamb-Shaffer Syndrome |
|
Motor stereotypy, Ataxia, Hyperactivity, Mild postnatal growth retardation, Scoliosis, Optic atro... |
ORPHA:530983 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:109120 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Carpal synostosis, Brachydactyly, Syndactyly, Radioulnar synostosis, Clinodactyly, Tarsal synosto... |
OMIM:605282 |
| Fibrodysplasia Ossificans Progressiva |
|
Sensorineural hearing impairment, Conductive hearing impairment, Ectopic ossification in tendon t... |
OMIM:135100 |
| Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features |
|
Motor stereotypy, Gait ataxia, Umbilical hernia, Joint hypermobility, Impaired pain sensation, In... |
OMIM:616579 |
| N-Acetylaspartate Deficiency |
|
Motor stereotypy, Truncal ataxia |
OMIM:614063 |
| Rubinstein-Taybi Syndrome 2 |
|
Posterior helix pit, Hyperactivity |
OMIM:613684 |
| Developmental And Epileptic Encephalopathy 6B |
|
Motor stereotypy, Ataxia, Myoclonus, Scoliosis, Hyperkinetic movements, Chorea, Choreoathetosis, ... |
OMIM:619317 |
| Gm1 Gangliosidosis Type 1 |
|
Low-set ears, Hypoplastic vertebral bodies, Exaggerated startle response, Beaking of vertebral bo... |
ORPHA:79255 |
| Radio-Tartaglia Syndrome |
|
Large earlobe, Low-set ears, Conductive hearing impairment, Ataxia, Motor stereotypy, Scoliosis, ... |
OMIM:619312 |
| Ivic Syndrome |
|
Carpal synostosis, Short clavicles, Absent thumb, Limited interphalangeal movement, Hypoplasia of... |
OMIM:147750 |
| Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Low-set ears, Ataxia, Hyperactivity, Spastic paraparesis, Short stature, Arthrogryposis-like hand... |
ORPHA:369891 |
| Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Sensorineural hearing impairment, Ataxia, Tetraparesis, Optic disc pallor, Abnormal auditory evok... |
OMIM:619260 |
| Holzgreve Syndrome |
|
Hand polydactyly, Abnormal metacarpal morphology, Abnormal morphology of ulna |
ORPHA:2167 |
| Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Motor stereotypy, Flexion contracture, Scoliosis, Joint laxity, Attention deficit hyperactivity d... |
OMIM:619293 |
| Rett Syndrome, Congenital Variant |
|
Motor stereotypy, Kyphosis, Protruding ear, Scoliosis, Chorea, Athetosis, Tongue thrusting, Spast... |
OMIM:613454 |
| 13Q12.3 Microdeletion Syndrome |
|
Kyphoscoliosis, Hyperactivity, Short stature, Chronic otitis media, Camptodactyly, Impaired pain ... |
ORPHA:412035 |
| Chromosome 5P13 Duplication Syndrome |
|
Motor stereotypy, Low-set ears, Scoliosis, Craniosynostosis |
OMIM:613174 |
| Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Tibial bowing, Radial bowing, Splenomegaly, Abnormality of fibula morphology, Bowing of the long ... |
ORPHA:3035 |
| Charge Syndrome |
|
Sensorineural hearing impairment, Low-set ears, Aplasia of the semicircular canal, Microtia, Holo... |
OMIM:214800 |
| Pyruvate Dehydrogenase E2 Deficiency |
|
Choreoathetosis, Oculomotor apraxia, Ataxia, Jerky head movements |
OMIM:245348 |
| Megalocornea-Intellectual Disability Syndrome |
|
Sensorineural hearing impairment, Kyphosis, Protruding ear, Ataxia, Motor stereotypy, Short statu... |
ORPHA:2479 |
| Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Motor stereotypy, Low-set ears, Bilateral conductive hearing impairment, Interictal epileptiform ... |
OMIM:617802 |
| Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Cervical C2/C3 vertebral fusion, Thoracic scoliosis, Knee dislocation, Joint hypermobility, Gener... |
OMIM:618000 |
| Holt-Oram Syndrome |
|
Absent thumb, Down-sloping shoulders, Abnormality of the humerus, Radioulnar synostosis, Aplasia/... |
ORPHA:392 |
| Koolen-De Vries Syndrome |
|
Kyphosis, Spondylolisthesis, Joint hypermobility, Hyperactivity, Short stature, Overfolded helix,... |
OMIM:610443 |
| Koolen-De Vries Syndrome |
|
Vertebral segmentation defect, Kyphosis, Protruding ear, Short stature, Overfolded helix, Scolios... |
ORPHA:96169 |
| Mucopolysaccharidosis, Type Iiia |
|
Joint stiffness, Hyperactivity, Ovoid thoracolumbar vertebrae, Scoliosis, Dense calvaria, Umbilic... |
OMIM:252900 |
| 2Q31.1 Microdeletion Syndrome |
|
Ectrodactyly, Clinodactyly of the 5th finger, Abnormal morphology of ulna, Broad hallux phalanx, ... |
ORPHA:251014 |
| Stapes Ankylosis With Broad Thumbs And Toes |
|
Stapes ankylosis, Congenital stapes ankylosis, Conductive hearing impairment, Fused cervical vert... |
OMIM:184460 |
| Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Motor stereotypy, Recurrent otitis media, Hyperactivity, Recurrent hand flapping, Scoliosis, Join... |
ORPHA:449291 |
| Ring Chromosome 21 Syndrome |
|
Holoprosencephaly, Fused thoracic vertebrae, Short stature, Scoliosis, Spasticity, Thoracic hemiv... |
ORPHA:1445 |
| Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies |
|
Short stature, Hyperactivity, Spasticity, Recurrent otitis media |
OMIM:615286 |
| Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements |
|
EEG abnormality, Stereotypical hand wringing, Chorea |
OMIM:618760 |
| Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Beaking of vertebral bodies, Joint hypermobility, Craniosynostosis, Intention tremor, Hemivertebr... |
OMIM:213980 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Hearing impairment, Scoliosis, Spasticity, Hyperactivity |
OMIM:300958 |
| Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Butterfly vertebrae, Short stature, Spina bifida occulta, Fused cervical vertebrae, Attention def... |
OMIM:619227 |
| Otopalatodigital Syndrome, Type Ii |
|
Radial deviation of the 2nd finger, Femoral bowing, Congenital hip dislocation, Rudimentary fibul... |
OMIM:304120 |
| 3P25.3 Microdeletion Syndrome |
|
Sensorineural hearing impairment, Motor stereotypy, Ataxia, Scoliosis, Attention deficit hyperact... |
ORPHA:435638 |
| Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Cervical C2/C3 vertebral fusion, Short stature, Moderate hearing impairment, Recurrent otitis media |
ORPHA:370010 |
| Otopalatodigital Syndrome Type 2 |
|
Myelomeningocele, Carpal synostosis, Abnormal pinna morphology, Hydrocephalus, Increased bone min... |
ORPHA:90652 |
| Moebius Syndrome |
|
Absent hand, Clinodactyly of the 5th finger, Talipes equinovarus, Abnormal morphology of ulna, Ap... |
ORPHA:570 |
| Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Motor stereotypy, Hypertonia, Joint contracture of the 4th finger, Cupped ear, Cerebral palsy, Jo... |
OMIM:618914 |
| 19P13.3 Microduplication Syndrome |
|
Intrauterine growth retardation, Kyphoscoliosis, Growth delay, Hyperactivity, Microtia, Osteoporo... |
ORPHA:447980 |
| Smith-Magenis Syndrome |
|
Motor stereotypy, Conductive hearing impairment, Joint stiffness, Short stature, Scoliosis, Abnor... |
ORPHA:819 |
| Charcot-Marie-Tooth Disease Type 1F |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Decreased nerve conduction... |
ORPHA:101085 |
| Acute Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Hypertonia, Cerebral palsy, Abnormal auditory evoked potentials |
ORPHA:529799 |
| Chronic Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Hypertonia, Cerebral palsy, Abnormal auditory evoked potentials |
ORPHA:529808 |
| Autosomal Recessive Ataxia Due To Pex10 Deficiency |
|
Progressive cerebellar ataxia, Limb ataxia, Abnormal pyramidal sign, Truncal ataxia, Abnormal hea... |
ORPHA:247815 |
| Camurati-Engelmann Disease |
|
Abnormality of femur morphology, Metaphyseal dysplasia, Cortical thickening of long bone diaphyse... |
ORPHA:1328 |
| Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities |
|
Hyperactivity, Short stature, Microtia, Low-set ears, Posteriorly rotated ears |
OMIM:618089 |
| Intellectual Developmental Disorder, X-Linked 21 |
|
Uplifted earlobe, Hyperactivity, Joint hypermobility |
OMIM:300143 |
| Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis |
|
Posterior fusion of lumbosacral vertebrae |
OMIM:192800 |
| Intellectual Developmental Disorder, Autosomal Dominant 43 |
|
Ataxia, Hyperactivity, Microtia, Attached earlobe, Umbilical hernia, Dystonia |
OMIM:616977 |
| White-Sutton Syndrome |
|
Sensorineural hearing impairment, Intrauterine growth retardation, Motor stereotypy, Hyperactivit... |
OMIM:616364 |
| Coffin-Siris Syndrome 2 |
|
Abnormal pinna morphology, Hyperactivity, Short stature, Hearing impairment, Delayed skeletal mat... |
OMIM:614607 |
| Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Motor stereotypy, Speech apraxia, Attention deficit hyperactivity disorder |
OMIM:613670 |
| Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Motor stereotypy, Ataxia, Recurrent hand flapping, Opisthotonus, Limb hypertonia, Tongue thrustin... |
OMIM:619580 |
| Kohlschutter-Tonz Syndrome-Like |
|
Motor stereotypy, Ataxia, Myoclonus, Scoliosis, Stereotypical hand wringing, Death in adolescence... |
OMIM:619229 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Motor stereotypy, Ataxia, Rigidity, Chorea, Progressive spasticity, Repetitive compulsive behavio... |
OMIM:300260 |
| Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Ataxia, Hyperactivity, Poor coordination, Scoliosis, Spasticity, Low-set ears, Posteriorly rotate... |
OMIM:618430 |
| Infantile Krabbe Disease |
|
Decreased nerve conduction velocity, Opisthotonus, Ankle clonus, Decerebrate rigidity, Spastic di... |
ORPHA:206436 |
| Intellectual Developmental Disorder, X-Linked 107 |
|
Hyperactivity, Abnormality of superior crus of antihelix, Prominent crus of helix, Attention defi... |
OMIM:301013 |
| Tay-Sachs Disease |
|
Clumsiness, Exaggerated startle response, Laryngeal dystonia, Dysmetria, Poor fine motor coordina... |
ORPHA:845 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Kyphosis, Hypertonia, Exaggerated startle response, Babinski sign, Abnormal pyramidal sign, Rigid... |
OMIM:617527 |
| Intellectual Developmental Disorder, Autosomal Dominant 34 |
|
Motor stereotypy, Hearing impairment |
OMIM:616351 |
| Ocular Motor Apraxia |
|
Oculomotor apraxia, Jerky head movements |
OMIM:257550 |
| Marbach-Schaaf Neurodevelopmental Syndrome |
|
Torticollis, Recurrent hand flapping, Hemidystonia, Tremor, Speech apraxia, Attention deficit hyp... |
OMIM:619680 |
| Brunet-Wagner Neurodevelopmental Syndrome |
|
Optic atrophy, Increased skull ossification, Motor stereotypy |
OMIM:619690 |
| Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Radial bowing, 2-3 toe syndactyly, Postaxial polydactyly, Preaxial polydactyly, Micromelia, Brach... |
OMIM:617866 |
| Ventriculomegaly With Defects Of The Radius And Kidney |
|
Forearm undergrowth, Bowed forearm bones, Absent radius, Absent thumb |
OMIM:602200 |
| Macrocephaly-Developmental Delay Syndrome |
|
Abnormal speech discrimination, Motor stereotypy, EEG with generalized slow activity |
ORPHA:397612 |
| Fanconi Anemia, Complementation Group I |
|
Conductive hearing impairment, Short stature, Optic nerve hypoplasia, Short neck, Fused cervical ... |
OMIM:609053 |
| Cdkl5-Deficiency Disorder |
|
Kyphosis, Scoliosis, Stereotypical hand wringing, Growth delay, Impaired pain sensation |
ORPHA:505652 |
| Kbg Syndrome |
|
Protruding ear, Short stature, Vertebral fusion, Short neck, Vertebral arch anomaly, Thoracic kyp... |
OMIM:148050 |
| X-Linked Cerebral Adrenoleukodystrophy |
|
Hamstring contractures, Ataxia, Hyperactivity, Dysmetria, Hoffmann sign, Ankle clonus, Myelopathy... |
ORPHA:139396 |
| Ritscher-Schinzel Syndrome 3 |
|
Shortening of all distal phalanges of the fingers, Short 1st metacarpal, Hypoplasia of the ulna, ... |
OMIM:619135 |
| X-Linked Intellectual Disability, Cabezas Type |
|
Kyphosis, Hyperactivity, Short stature, Camptodactyly of finger, Short neck, Scoliosis, Tremor, C... |
ORPHA:85293 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Vertebral segmentation defect, Vertebral fusion, Death in infancy, Sacral dimple |
OMIM:618845 |
| Oslam Syndrome |
|
Clinodactyly of the 5th finger, Radioulnar synostosis |
ORPHA:2760 |
| Chromosome Xq13 Duplication Syndrome |
|
Intrauterine growth retardation, Hyperactivity, Finger joint hypermobility, Limited elbow extensi... |
OMIM:301069 |
| Adenylosuccinase Deficiency |
|
Hyperactivity, Opisthotonus, Prominent metopic ridge, Myoclonus, Gait ataxia, Spasticity, Growth ... |
OMIM:103050 |
| Atelosteogenesis, Type I |
|
Disproportionate short-limb short stature, Knee dislocation, Encephalocele, Short neck, Neonatal ... |
OMIM:108720 |
| Spondylocarpotarsal Synostosis Syndrome |
|
Sensorineural hearing impairment, Vertebral segmentation defect, Carpal synostosis, C2-C3 subluxa... |
OMIM:272460 |
| Multiple Pterygium Syndrome, Escobar Variant |
|
Multiple joint contractures, Short neck, Umbilical hernia, Pterygium, Flexion contracture, Anteri... |
OMIM:265000 |
| Plaa-Associated Neurodevelopmental Disorder |
|
Sensorineural hearing impairment, Kyphosis, Exaggerated startle response, Hyperextensibility of t... |
ORPHA:521426 |
| Diaphanospondylodysostosis |
|
Abnormal vertebral segmentation and fusion, Short neck, Myelomeningocele, Absent or minimally oss... |
ORPHA:66637 |
| Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures |
|
Motor stereotypy, Craniosynostosis, Scoliosis, Attention deficit hyperactivity disorder, Joint hy... |
OMIM:618906 |
| Gomez-Lopez-Hernandez Syndrome |
|
Hypertonia, Ataxia, Hyperactivity, Craniosynostosis, Short stature, Wormian bones, Low-set ears, ... |
OMIM:601853 |
| Schinzel-Giedion Syndrome |
|
Abnormal helix morphology, Infantile sensorineural hearing impairment, Short neck, Radioulnar syn... |
ORPHA:798 |
| 2Q37 Microdeletion Syndrome |
|
Motor stereotypy, Conductive hearing impairment, Tracheomalacia, Short stature, Short neck, Atten... |
ORPHA:1001 |
| 16P11.2P12.2 Microdeletion Syndrome |
|
Abnormal pinna morphology, Hyperactivity, Short stature, Camptodactyly of finger, Chronic otitis ... |
ORPHA:261211 |
| Verheij Syndrome |
|
Growth delay, Short stature, Hemivertebrae, Short neck, Scoliosis, Hip dislocation, Vertebral fusion |
OMIM:615583 |
| Vertebral Hypersegmentation And Orofacial Anomalies |
|
Six lumbar vertebrae, Darwin tubercle of helix, Thickened helices, Joint hypermobility |
OMIM:619122 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Overlapping fingers, Limited pronation/supination of forearm, Short middle phalanx of the 4th fin... |
OMIM:616738 |
| Postaxial Acrofacial Dysostosis |
|
Conductive hearing impairment, Growth delay, Supernumerary vertebrae, Cupped ear, Congenital hip ... |
OMIM:263750 |
| Asparagine Synthetase Deficiency |
|
Exaggerated startle response, Spastic tetraplegia, Macrotia |
OMIM:615574 |
| Helsmoortel-Van Der Aa Syndrome |
|
Motor stereotypy, Hyperactivity, Short stature, Low-set, posteriorly rotated ears, Joint laxity |
OMIM:615873 |
| Intellectual Developmental Disorder, Autosomal Dominant 22 |
|
Growth delay, Abnormal pinna morphology, Short stature, Stereotypical hand wringing, Proportionat... |
OMIM:612337 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Absent thumb, Hypoplasia of the radius, Femoral bowing, Hypoplasia of the ulna, Short forearm, Ca... |
OMIM:274000 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
|
Motor stereotypy, Hyperactivity, Gait ataxia, Spasticity, Macrotia |
OMIM:300486 |
| Frontometaphyseal Dysplasia 1 |
|
Sensorineural hearing impairment, Cervical C2/C3 vertebral fusion, Carpal synostosis, Dislocated ... |
OMIM:305620 |
| Hydroxykynureninuria |
|
Motor stereotypy, Hypertonia, Congenital sensorineural hearing impairment |
ORPHA:79155 |
| 19P13.12 Microdeletion Syndrome |
|
Sensorineural hearing impairment, Conductive hearing impairment, Kyphosis, Hyperactivity, Cranios... |
ORPHA:254346 |
| Myopathy With Extrapyramidal Signs |
|
Ataxia, Clumsiness, Hyperactivity, Abnormality of extrapyramidal motor function, Short neck, Chor... |
OMIM:615673 |
| Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
