| Radioulnar Synostosis, Nonsyndromic, Susceptibility To |
|
Radioulnar synostosis, Limited pronation/supination of forearm |
OMIM:179300 |
| Metaphyseal Anadysplasia |
|
Abnormal ulnar metaphysis morphology, Abnormal morphology of ulna, Aplasia/Hypoplasia of the radi... |
ORPHA:1040 |
| Congenital Radioulnar Synostosis |
|
Polydactyly, Limited elbow movement, Abnormal morphology of the radius, Radioulnar synostosis, Ab... |
ORPHA:3269 |
| Ring Chromosome 4 Syndrome |
|
Abnormal morphology of ulna, Abnormality of the upper limb, Aplasia/Hypoplasia of the radius, Spl... |
ORPHA:1447 |
| Deafness, Autosomal Recessive 109 |
|
Morphological abnormality of the semicircular canal, Congenital sensorineural hearing impairment |
OMIM:618013 |
| Fibular Aplasia-Ectrodactyly Syndrome |
|
Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula, Split hand |
ORPHA:1118 |
| Symbrachydactyly Of Hands And Feet |
|
Aplasia/Hypoplasia of the thumb, Abnormality of the humerus, Abnormal morphology of ulna, Aplasia... |
ORPHA:1570 |
| Femur-Fibula-Ulna Complex |
|
Finger syndactyly, Humeroradial synostosis, Abnormality of the elbow, Abnormal morphology of ulna... |
ORPHA:2019 |
| Brachydactyly-Elbow Wrist Dysplasia Syndrome |
|
Abnormality of the humerus, Synostosis of carpal bones, Clinodactyly of the 5th finger, Abnormal ... |
ORPHA:1275 |
| Deafness, X-Linked 6 |
|
Incomplete partition of the cochlea, Bilateral sensorineural hearing impairment |
OMIM:300914 |
| Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Hip dysplasia, Clinodactyly of the 5th finger, Finger syndactyly, Radioulnar synostosis |
ORPHA:71289 |
| Gollop-Wolfgang Complex |
|
Aplasia/Hypoplasia of the tibia, Hand monodactyly, Bifid femur, Ectrodactyly, Aplasia/Hypoplasia ... |
ORPHA:1986 |
| Robin Sequence-Oligodactyly Syndrome |
|
Hand oligodactyly, Abnormal metacarpal morphology, Clinodactyly of the 5th finger, Abnormal morph... |
ORPHA:3104 |
| Auditory Neuropathy, Autosomal Dominant 1 |
|
Abnormal auditory evoked potentials, Absence of acoustic reflex, Sensorineural hearing impairment... |
OMIM:609129 |
| Pacman Dysplasia |
|
Epiphyseal stippling, Bowing of the long bones |
OMIM:167220 |
| Radioulnar Synostosis, Unilateral, With Developmental Retardation And Hypotonia |
|
Dislocated radial head, Radioulnar synostosis |
OMIM:266255 |
| Humero-Radio-Ulnar Synostosis |
|
Aplasia/Hypoplasia of the thumb, Elbow ankylosis, Abnormal metacarpal morphology, Radioulnar syno... |
ORPHA:3266 |
| Langer Mesomelic Dysplasia |
|
Aplasia/Hypoplasia of the fibula, Short femoral neck, Abnormal carpal morphology, Ulnar deviation... |
ORPHA:2632 |
| Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Absence of acoustic reflex, Sensorineural hearing impairment |
OMIM:601071 |
| Arms, Malformation Of |
|
Hypoplasia of the radius, Radioulnar synostosis, Hypoplasia of the ulna |
OMIM:107900 |
| Deafness, Autosomal Dominant 77 |
|
Morphological abnormality of the inner ear, Sensorineural hearing impairment, Tinnitus |
OMIM:618915 |
| Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
|
Enlarged vestibular aqueduct, Sensorineural hearing impairment, Incomplete partition of the cochl... |
OMIM:600791 |
| Fibular Aplasia-Complex Brachydactyly Syndrome |
|
Aplasia/Hypoplasia of the fibula, Synostosis of carpal bones, Abnormal morphology of the radius, ... |
ORPHA:2639 |
| Ulna Metaphyseal Dysplasia Syndrome |
|
Abnormality of fibula morphology, Abnormal metacarpal morphology, Abnormal morphology of ulna, Ap... |
ORPHA:1837 |
| Acrorenal Syndrome |
|
Abnormal morphology of ulna, Abnormality of tibia morphology, Aplasia/Hypoplasia of the radius, S... |
ORPHA:971 |
| Deafness, Autosomal Dominant 80 |
|
Morphological abnormality of the semicircular canal, Dilated vestibule of the inner ear, Cochlear... |
OMIM:619274 |
| Upper Limb Mesomelic Dysplasia |
|
Radial bowing, Ulnar deviation of finger, Hypoplasia of the ulna |
ORPHA:2497 |
| Opticocochleodentate Degeneration |
|
Cochlear degeneration, Hearing impairment, Optic atrophy |
OMIM:258700 |
| Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment, Abnormal vestib... |
OMIM:616515 |
| Weismann-Netter Syndrome |
|
Abnormality of the humerus, Tibial bowing, Femoral bowing, Abnormal morphology of ulna, Abnormali... |
ORPHA:3344 |
| Ulnar Hypoplasia |
|
Hypoplasia of the radius, Radial bowing, Hypoplasia of the ulna, Distal ulnar hypoplasia, Radial ... |
OMIM:191440 |
| Heart-Hand Syndrome Type 2 |
|
Aplasia/Hypoplasia of the thumb, Short 4th metacarpal, Short 5th metacarpal, Abnormality of the e... |
ORPHA:1350 |
| Cochleosaccular Degeneration-Cataract Syndrome |
|
Cochlear degeneration, Progressive sensorineural hearing impairment |
ORPHA:3233 |
| Leri-Weill Dyschondrosteosis |
|
Short tibia, Short toe, Short 4th metacarpal, Coxa valga, Abnormal carpal morphology, Limited elb... |
OMIM:127300 |
| Léri-Weill Dyschondrosteosis |
|
Short tibia, Abnormal carpal morphology, Elbow dislocation, Madelung deformity, Abnormal metaphys... |
ORPHA:240 |
| Spinocerebellar Ataxia, Autosomal Recessive 3 |
|
Cochlear degeneration, Hearing impairment |
OMIM:271250 |
| Ulnar Hypoplasia With Lobster-Claw Deformity Of Feet |
|
Syndactyly, Split foot, Short finger, Hypoplasia of the ulna |
OMIM:314360 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Short tubular bones of the hand, Metaphyseal cupping of proximal phalanges, Metaphyseal irregular... |
ORPHA:174 |
| Ulnar Hypoplasia-Split Foot Syndrome |
|
Split foot, Aplasia/Hypoplasia of the radius, Split hand, Hypoplasia of the ulna |
ORPHA:1122 |
| Prenatal Bowing |
|
Bowing of the long bones |
OMIM:264050 |
| Langer Mesomelic Dysplasia |
|
Short tibia, Broad ulna, Short femoral neck, Hypoplasia of the radius, Radial bowing, Hypoplasia ... |
OMIM:249700 |
| Radial Hemimelia |
|
Aplasia of the 1st metacarpal, Deviation of the hand or of fingers of the hand, Abnormality of th... |
ORPHA:93321 |
| Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Synostosis of carpal bones, Ulnar deviation of finger, Hypoplasia of the ulna, Elbow dislocation,... |
ORPHA:2634 |
| Postaxial Oligodactyly, Tetramelic |
|
Aplasia of the 5th metacarpal, Absent fifth metatarsal, Partial-complete absence of 5th phalanges... |
OMIM:176240 |
| Acheiropodia |
|
Aplasia of the ulna, Upper limb phocomelia, Absent radius, Abnormal metaphysis morphology, Abnorm... |
ORPHA:931 |
| Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Broad tibial metaphyses, Broad femoral head, Fibular bowing, Exostoses of the radius, Hypoplasia ... |
ORPHA:85188 |
| Dyschondrosteosis And Nephritis |
|
Short tibia, Short forearm, Radial bowing, Ulnar bowing, Madelung deformity |
OMIM:127350 |
| Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
|
Aplasia/Hypoplasia of the fibula, Short 5th finger, Short foot, Brachydactyly, Postaxial oligodac... |
ORPHA:52056 |
| Leri-Weill dyschondrostosis (LWD) - SHOX deletion |
|
Madelung deformity, Radial bowing, Limited pronation/supination of forearm |
DECIPHER:58 |
| Deafness, Autosomal Dominant 9 |
|
Postlingual sensorineural hearing impairment, Vertigo, Tinnitus, Cochlear degeneration, Abnormali... |
OMIM:601369 |
| Mesomelic Dysplasia, Nievergelt Type |
|
Camptodactyly of finger, Genu varum, Genu valgum, Finger syndactyly, Radioulnar synostosis, Clino... |
ORPHA:2633 |
| Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency |
|
Lymphadenopathy |
ORPHA:319600 |
| Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Low-set ears, Hyperactivity |
ORPHA:436151 |
| Boomerang Dysplasia |
|
Aplasia/Hypoplasia of the fibula, Finger syndactyly, Abnormality of the humerus, Abnormal morphol... |
ORPHA:1263 |
| Ulnar Hemimelia |
|
Sclerotic forearm bones, Aplasia of metacarpal bones, Humeroradial synostosis, Abnormal 3rd metac... |
ORPHA:93320 |
| Pendred Syndrome |
|
Cochlear malformation, Abnormal vestibular function, Congenital sensorineural hearing impairment |
OMIM:274600 |
| Pendred Syndrome |
|
Sensorineural hearing impairment, Hypoplasia of the cochlea, Enlarged vestibular aqueduct, Ataxia... |
ORPHA:705 |
| Woolly Hair Nevus |
|
Enlarged vestibular aqueduct |
ORPHA:79414 |
| Acromesomelic Dysplasia 2C |
|
Short tibia, Hypoplasia of the radius, Radial bowing, Cuboidal metacarpal, Hip dislocation, Hypop... |
OMIM:201250 |
| Deafness, X-Linked 5, With Peripheral Neuropathy |
|
Abnormal middle ear reflexes, Abnormal speech discrimination, Vertigo, Cochlear nerve hypoplasia,... |
OMIM:300614 |
| Distal Monosomy 10Q |
|
Short stature, Postnatal growth retardation, Cochlear malformation, Morphological abnormality of ... |
ORPHA:96148 |
| Branchiootorenal Syndrome 1 |
|
Conductive hearing impairment, Sensorineural hearing impairment, Incomplete partition of the coch... |
OMIM:113650 |
| Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Aplasia/Hypoplasia of the fibula, Abnormality of the upper limb, Finger syndactyly, Clinodactyly ... |
ORPHA:2141 |
| Mohr-Tranebjaerg Syndrome |
|
Postlingual sensorineural hearing impairment, Ankle clonus, Sensorineural hearing impairment, Pre... |
ORPHA:52368 |
| Fraxe Intellectual Disability |
|
Hyperactivity, Short stature, Recurrent hand flapping, Agitation, Compulsive behaviors, Prominent... |
ORPHA:100973 |
| Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1) |
|
Abnormal lymph node morphology |
OMIM:136580 |
| Brachydactyly Type A1 |
|
Short foot, Clinodactyly of the 5th finger, Hypoplasia of the ulna, Short hallux, Distal symphala... |
ORPHA:93388 |
| Chromosome Xq21 Deletion Syndrome |
|
Incomplete partition of the cochlea, Hearing impairment, Conductive hearing impairment, Progressi... |
OMIM:303110 |
| Fragile X Syndrome |
|
Hyperactivity, Macrotia, Abnormal head movements, Recurrent hand flapping, Joint laxity, Scoliosis |
OMIM:300624 |
| Apert Syndrome |
|
Morphological abnormality of the semicircular canal, Conductive hearing impairment, Sensorineural... |
ORPHA:87 |
| Usher Syndrome Type 3 |
|
Vestibular hypofunction, Sensorineural hearing impairment, Abnormal cochlea morphology |
ORPHA:231183 |
| Deafness, X-Linked 2 |
|
Stapes ankylosis, Conductive hearing impairment, Dilatated internal auditory canal, Progressive s... |
OMIM:304400 |
| Benign Paroxysmal Torticollis Of Infancy |
|
Abnormal head movements, Vertigo |
ORPHA:71518 |
| Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Toe syndactyly, Aplasia/hypoplasia of the femur, Postaxial hand polydactyly, Talipes equinovarus,... |
OMIM:228930 |
| Usher Syndrome Type 1 |
|
Vestibular hypofunction, Sensorineural hearing impairment, Ataxia, Abnormal cochlea morphology |
ORPHA:231169 |
| Deafness-Hypogonadism Syndrome |
|
Stapes ankylosis, Conductive hearing impairment, Abnormality of the middle ear ossicles, Enlarged... |
ORPHA:90646 |
| Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy |
OMIM:601382 |
| Branchiootic Syndrome 1 |
|
Sensorineural hearing impairment, Dilatated internal auditory canal, Hypoplasia of the cochlea, M... |
OMIM:602588 |
| Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Hyperactivity, Kyphosis, Joint contracture of the hand, Short stature, Repetitive compulsive beha... |
ORPHA:352490 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Genu varum, Metaphyseal cupping, Coxa vara, Radial bowing, Flared iliac wing, Ulnar bowing, Femor... |
OMIM:602111 |
| Gorham-Stout Disease |
|
Osteomyelitis, Abnormality of the cervical spine, Abnormal bone ossification, Torticollis, Abnorm... |
ORPHA:73 |
| Osebold-Remondini Syndrome |
|
Short tibia, Short toe, Short phalanx of finger, Hypoplasia of the radius, Carpal synostosis, Dec... |
OMIM:112910 |
| Intellectual Developmental Disorder With Hypertelorism And Distinctive Facies |
|
Low-set ears, Recurrent hand flapping, Posteriorly rotated ears |
OMIM:618147 |
| Primary Dystonia, Dyt13 Type |
|
Postural tremor, Limb dystonia, Torticollis, Abnormal repetitive mannerisms, Torsion dystonia, Fo... |
ORPHA:98807 |
| Intellectual Developmental Disorder, Autosomal Recessive 73 |
|
Gait ataxia, Recurrent hand flapping, Impulsivity, Scoliosis, Osteopenia, Low-set ears, Posterior... |
OMIM:619717 |
| Waardenburg Syndrome, Type 2E |
|
Sensorineural hearing impairment, Aplasia of the semicircular canal, Hypoplasia of the semicircul... |
OMIM:611584 |
| Intellectual Developmental Disorder, X-Linked 104 |
|
Hyperactivity, Optic atrophy, Ataxia, Tremor, Abnormal pinna morphology |
OMIM:300983 |
| Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Flexion contracture, Optic atrophy, Kyphosis, Intrauterine growth retardation, Neonatal death, Dy... |
OMIM:618237 |
| Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome |
|
Abnormal morphology of ulna, Abnormal metacarpal morphology |
ORPHA:2233 |
| Ravine Syndrome |
|
Abnormal auditory evoked potentials |
ORPHA:99852 |
| Isolated Klippel-Feil Syndrome |
|
Cervical C2/C3 vertebral fusion, Spina bifida, Abnormal sacrum morphology, Abnormal vertebral seg... |
ORPHA:2345 |
| Tibial Aplasia-Ectrodactyly Syndrome |
|
Aplasia/Hypoplasia of the tibia, Preaxial hand polydactyly, Finger syndactyly, Patellar aplasia, ... |
ORPHA:3329 |
| Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Abnormal autonomic nervous... |
OMIM:609136 |
| Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Patellar aplasia, Hand monodactyly, Absent forearm, Absent tibia, Short hallux, Split foot, Split... |
OMIM:119100 |
| Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Hand monodactyly, Absent tibia, Bifid femur, Aplasia of the ulna, Split hand, Foot monodactyly |
OMIM:228250 |
| Acheiropody |
|
Short tibia, Aplasia of the phalanges of the hand, Absent toe, Aplasia of metacarpal bones, Absen... |
OMIM:200500 |
| Ulnar Hypoplasia With Mental Retardation |
|
Bilateral ulnar hypoplasia, Limited elbow movement, Talipes equinovarus |
OMIM:276821 |
| Optic Atrophy 8 |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged somatosensory ev... |
OMIM:616648 |
| Episodic Ataxia Type 4 |
|
Abnormal head movements, Vertigo |
ORPHA:79136 |
| Acromesomelic Dysplasia 2A |
|
Short tibia, Short phalanx of finger, Aplasia/Hypoplasia involving the metacarpal bones, Hypoplas... |
OMIM:200700 |
| Multiple Epiphyseal Dysplasia Type 4 |
|
Elbow flexion contracture, Metatarsal synostosis, Abnormal forearm bone morphology, Flattened epi... |
ORPHA:93307 |
| Mesomelic Dysplasia, Savarirayan Type |
|
Metatarsus valgus, Broad tibial metaphyses, Flared radial metaphysis, Hip dislocation, Elbow disl... |
ORPHA:85170 |
| Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type |
|
Short tibia, Hypoplasia of the radius, Pseudoarthrosis |
OMIM:156230 |
| Acrocapitofemoral Dysplasia |
|
Short tibia, Flared iliac wing, Short proximal phalanx of finger, Short femur, Enlargement of the... |
OMIM:607778 |
| Pseudoachondroplasia |
|
Short phalanx of finger, Irregular carpal bones, Limited elbow extension, Delayed epiphyseal ossi... |
OMIM:177170 |
| Spinocerebellar Ataxia, Autosomal Recessive 31 |
|
Optic atrophy, Choreoathetosis, Ataxia, Tremor, Growth delay, Bilateral sensorineural hearing imp... |
OMIM:619422 |
| Wildervanck Syndrome |
|
Abnormality of the outer ear, Fused cervical vertebrae, Pseudopapilledema, Hearing impairment |
OMIM:314600 |
| Fibular Hemimelia |
|
Short tibia, Hip subluxation, Hypoplastic acetabulae, Toe syndactyly, Short femur, Ectrodactyly, ... |
ORPHA:93323 |
| Deafness, Autosomal Recessive 118, With Cochlear Aplasia |
|
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear aplasia |
OMIM:619553 |
| Christianson Syndrome |
|
Gait ataxia, Macrotia, Truncal ataxia, Abnormal repetitive mannerisms, Death in early adulthood, ... |
ORPHA:85278 |
| Mesomelic Dysplasia, Kantaputra Type |
|
Radial bowing, Tarsal synostosis, Carpal synostosis |
OMIM:156232 |
| Intellectual Developmental Disorder, X-Linked 101 |
|
Hyperactivity, Macrotia, Optic atrophy |
OMIM:300928 |
| Crouzon Syndrome |
|
Conductive hearing impairment, Narrow internal auditory canal, Optic atrophy, Hydrocephalus, Abno... |
ORPHA:207 |
| Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal motor evoked potentials, Abnormal auditory evoked potentials, Sensorineural hearing impa... |
ORPHA:320401 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Radial bowing, Ulnar bowing, Hip dislocation, Clinodactyly of the 5th finger, Syndactyly, Limited... |
OMIM:605432 |
| Jeavons Syndrome |
|
EEG with hyperventilation-induced epileptiform discharges, Abnormal head movements, EEG with foca... |
ORPHA:139431 |
| Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome |
|
Gait ataxia, Impaired vibration sensation in the lower limbs, Optic atrophy, Head tremor, Cochlea... |
ORPHA:95433 |
| Charge Syndrome |
|
Optic atrophy, Holoprosencephaly, Abnormality of bone mineral density, Abnormal cranial nerve mor... |
ORPHA:138 |
| Autosomal Dominant Spastic Ataxia Type 1 |
|
Impaired vibration sensation in the lower limbs, Spastic ataxia, Limb ataxia, Impaired propriocep... |
ORPHA:251282 |
| Acrodysostosis |
|
Short toe, Short metacarpal, Hypoplasia of the radius, Epiphyseal stippling, Abnormal morphology ... |
ORPHA:950 |
| Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Shoulder dislocation, Aplasia/Hypoplasia of the thumb, Genu varum, Asymmetric radial dysplasia, R... |
OMIM:171480 |
| Müllerian Duct Anomalies-Limb Anomalies Syndrome |
|
Abnormality of the elbow, Abnormality of the wrist, Split hand, Postaxial hand polydactyly, Short... |
ORPHA:2491 |
| 4Q21 Microdeletion Syndrome |
|
Kyphosis, Abnormal repetitive mannerisms, Tremor, Short neck, Scoliosis, Growth delay, Intrauteri... |
ORPHA:238750 |
| Prader-Willi Syndrome Due To Imprinting Mutation |
|
Narrow palm, Short foot, Abnormal ulnar metaphysis morphology, Small hand |
ORPHA:177910 |
| Thalidomide Embryopathy |
|
Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Radial club hand, Preaxial hand polydactyly... |
ORPHA:3312 |
| Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome |
|
Aplasia/Hypoplasia of the thumb, Radial club hand, Asymmetric radial dysplasia, Ulnar bowing, Abn... |
ORPHA:2878 |
| Lethal Faciocardiomelic Dysplasia |
|
Short tibia, Radial club hand, Short 5th finger, Hypoplasia of the radius, Hypoplasia of the ulna... |
ORPHA:1972 |
| Branchiogenic Deafness Syndrome |
|
Conductive hearing impairment, Sensorineural hearing impairment, Short stature, Abnormality of th... |
ORPHA:50815 |
| Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, EEG abnormality, Facial palsy |
OMIM:617519 |
| Ophthalmomandibulomelic Dysplasia |
|
Radioulnar dislocation, Coxa valga, Radial bowing, Ulnar deviated club hands, Lateral humeral con... |
OMIM:164900 |
| Noonan Syndrome |
|
Sensorineural hearing impairment, Short stature, Aplasia of the semicircular canal, Radioulnar sy... |
ORPHA:648 |
| Kbg Syndrome |
|
Vertebral fusion, Bilateral conductive hearing impairment, Macrotia, Short stature, Thoracic kyph... |
ORPHA:2332 |
| Aarskog-Scott Syndrome |
|
Camptodactyly of finger, Abnormality of the cervical spine, Short stature, External ear malformat... |
ORPHA:915 |
| Dysspondyloenchondromatosis |
|
Abnormality of fibula morphology, Genu valgum, Abnormal ulnar metaphysis morphology, Metaphyseal ... |
ORPHA:85198 |
| Laurin-Sandrow Syndrome |
|
Triphalangeal thumb, Patellar aplasia, Absent tibia, Hand polydactyly, Syndactyly, Absent radius,... |
OMIM:135750 |
| Guanidinoacetate Methyltransferase Deficiency |
|
Chorea, Hyperactivity, Abnormal head movements, Ataxia, Athetosis, Dystonia |
ORPHA:382 |
| Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Conductive hearing impairment, Sensorineural hearing impairment, Fused cervical vertebrae, Short ... |
OMIM:214300 |
| Charcot-Marie-Tooth Disease, Type 4D |
|
Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Hearing impairment |
OMIM:601455 |
| Spondyloperipheral Dysplasia |
|
Short distal phalanx of the 2nd finger, Flat capital femoral epiphysis, Shortening of all middle ... |
OMIM:271700 |
| Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment, Optic atrophy |
OMIM:125250 |
| Ogden Syndrome |
|
Delayed cranial suture closure, Macrotia, Abnormal head movements, Torticollis, Scoliosis, Low-se... |
ORPHA:276432 |
| Wildervanck Syndrome |
|
Meningocele, Pseudopapilledema, Fused cervical vertebrae, Short neck, Congenital sensorineural he... |
ORPHA:3456 |
| Abcd Syndrome |
|
Total intestinal aganglionosis, Abnormal auditory evoked potentials, Aganglionic megacolon, Neona... |
OMIM:600501 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Elbow flexion contracture, Camptodactyly, Elbow contracture, Short neck, Arthrogryposis multiplex... |
OMIM:178110 |
| Oslam Syndrome |
|
Radial deviation of finger, Clinodactyly, Radioulnar synostosis |
OMIM:165660 |
| Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Hyperactivity, Macrotia, Short stature, Kyphoscoliosis, Anteverted ears |
OMIM:615541 |
| Bor Syndrome |
|
Hypoplasia of the cochlea, Abnormality of the middle ear ossicles, Facial palsy, Enlarged cochlea... |
ORPHA:107 |
| Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Absent thumb, Hypoplasia of the radius, Hand oligodactyly, Proximal placement of thumb, Proximal ... |
OMIM:602418 |
| Intellectual Developmental Disorder With Autism And Dysmorphic Facies |
|
Low-set ears, Recurrent hand flapping, Attention deficit hyperactivity disorder, Scoliosis |
OMIM:620021 |
| Chromosome 3Q29 Deletion Syndrome |
|
Gait ataxia, Hyperactivity, Macrotia, Low-set ears, Posteriorly rotated ears |
OMIM:609425 |
| Holt-Oram Syndrome |
|
Triphalangeal thumb, Absent thumb, Limited elbow extension, Abnormal carpal morphology, Hypoplasi... |
OMIM:142900 |
| Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Flattened femoral head, Hip dysplasia, Abnormal hip joint morphology, Irregular epiphyses, Hypopl... |
ORPHA:1856 |
| Distal Limb Deficiencies-Micrognathia Syndrome |
|
Aplasia/Hypoplasia of the thumb, Abnormal metacarpal morphology, Abnormality of the wrist, Oligod... |
ORPHA:1307 |
| Saethre-Chotzen Syndrome |
|
Abnormal antihelix morphology, Delayed cranial suture closure, Hyperlordosis, Conductive hearing ... |
ORPHA:794 |
| Multiple Pterygium Syndrome, X-Linked |
|
Increased susceptibility to fractures, Vertebral fusion, Flexion contracture, Joint dislocation, ... |
OMIM:312150 |
| Intellectual Developmental Disorder, Autosomal Dominant 26 |
|
Hyperactivity, Kyphosis, Short stature, Scoliosis, Intrauterine growth retardation, Low-set ears,... |
OMIM:615834 |
| Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density |
|
Short tibia, Hypoplasia of the radius, Lytic defects of humeral diaphysis, Short femur, Hypoplasi... |
OMIM:601376 |
| Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Hypsarrhythmia, Multifocal epileptiform discharges, Abnormal repetitive mannerisms, Large earlobe... |
ORPHA:411986 |
| Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements |
|
Conductive hearing impairment, Stereotypical hand wringing, Choreoathetosis, Dystonia, Bruxism |
OMIM:618497 |
| Cardiospondylocarpofacial Syndrome |
|
Fusion of middle ear ossicles, Conductive hearing impairment, Short stature, Enlarged vestibular ... |
OMIM:157800 |
| Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Short phalanx of finger, Coxa valga, Flared iliac wing, Narrow pelvis bone, Limited elbow extensi... |
OMIM:300106 |
| Wt Limb-Blood Syndrome |
|
Ulnar deviation of thumb, Short phalanx of finger, Absent thumb, Short thumb, Radioulnar synostos... |
OMIM:194350 |
| Arnold-Chiari Malformation Type I |
|
Gait ataxia, Functional abnormality of the inner ear, Cervical C2/C3 vertebral fusion, Adult onse... |
ORPHA:268882 |
| Lateral Meningocele Syndrome |
|
Meningocele, Vertebral fusion, Conductive hearing impairment, Biconcave vertebral bodies, Kyphosi... |
OMIM:130720 |
| Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Vertebral hypoplasia, Limb pain, Short neck, Ovoid vertebral bodies, Disproportionate short-trunk... |
ORPHA:93315 |
| Distal Renal Tubular Acidosis |
|
Increased susceptibility to fractures, Sensorineural hearing impairment, Short stature, Osteomala... |
ORPHA:18 |
| Ophthalmomandibulomelic Dysplasia |
|
Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Radioulnar dislocatio... |
ORPHA:2741 |
| Multiple Pterygium Syndrome, Lethal Type |
|
Increased susceptibility to fractures, Vertebral fusion, Flexion contracture, Joint dislocation, ... |
OMIM:253290 |
| Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Abnormal antihelix morphology, Vertebral fusion, Patellar dislocation, Aplasia/Hypoplasia of the ... |
ORPHA:2916 |
| Nievergelt Syndrome |
|
Genu valgum, Radioulnar synostosis, Metatarsal synostosis, Tarsal synostosis, Talipes equinovarus |
OMIM:163400 |
| Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Hyperactivity, Macrotia, Short stature, Abnormal repetitive mannerisms, Kyphoscoliosis, Scoliosis |
ORPHA:391307 |
| Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Low-set ears, Hyperactivity, Tremor, Bruxism |
OMIM:618718 |
| 48,Xxyy Syndrome |
|
Radioulnar synostosis, Abnormal repetitive mannerisms, Elbow dislocation, Ataxia, Tremor, Attenti... |
ORPHA:10 |
| Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Macrotia, Recurrent hand flapping, Abnormality of pain sensation, Ataxia, Tremor, Anteverted ears... |
ORPHA:544254 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Restlessness, Wrist flexion contracture, Macrotia, Flexion contracture, Resting tremor, Choreoath... |
OMIM:300055 |
| Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Narrow internal auditory canal, Holoprosencephaly, Low-set, posteriorly rotated ears, Synotia, Ab... |
ORPHA:990 |
| Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Back pain, Vertebral fusion, Short stature, Block vertebrae, Death in infancy, Vertebral segmenta... |
OMIM:277300 |
| Bresek Syndrome |
|
Aganglionic megacolon, Hydrocephalus, Optic nerve hypoplasia, Scoliosis, Growth delay, Intrauteri... |
ORPHA:85284 |
| Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Prolonged brainstem... |
OMIM:601596 |
| Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language |
|
Recurrent hand flapping, Macrotia, EEG abnormality |
OMIM:617268 |
| Ck Syndrome |
|
Hyperlordosis, Hyperactivity, Kyphosis, Joint hypermobility, Scoliosis, Posteriorly rotated ears |
OMIM:300831 |
| Ck Syndrome |
|
Hyperactivity, Joint hypermobility, Kyphoscoliosis, Posteriorly rotated ears, Lumbar hyperlordosis |
ORPHA:251383 |
| Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia |
|
Aplasia of the inner ear, Microtia, first degree, Anteverted ears, Profound sensorineural hearing... |
OMIM:610706 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 2 |
|
Radial bowing |
OMIM:617993 |
| Faciocardiomelic Dysplasia, Lethal |
|
Radial deviation of the hand, Short 5th finger, Hypoplasia of the radius, Hypoplasia of the ulna,... |
OMIM:227270 |
| Intellectual Developmental Disorder, Autosomal Dominant 7 |
|
Hyperactivity, Macrotia, Birth length less than 3rd percentile, Stereotypical hand wringing, Shor... |
OMIM:614104 |
| Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
|
Thoracolumbar scoliosis, Flexion contracture, Short stature, Acetabular dysplasia, Short neck, Lo... |
OMIM:616549 |
| Alazami Syndrome |
|
Stereotypical hand wringing, Abnormal repetitive mannerisms, Scoliosis, Abnormal eating behavior,... |
ORPHA:319671 |
| Xq21 Microdeletion Syndrome |
|
Gait ataxia, Stapes ankylosis, Conductive hearing impairment, Sensorineural hearing impairment, A... |
ORPHA:1435 |
| Acrocraniofacial Dysostosis |
|
Abnormality of the outer ear, Abnormal auditory evoked potentials, Conductive hearing impairment,... |
OMIM:201050 |
| Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Tracheobronchomalacia, Sensorineural hearing impairment, Joint laxity, Recurrent otitis media, Ab... |
ORPHA:500159 |
| Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Hyperactivity, Sensorineural hearing impairment, Short stature, Protruding ear, Tremor, Attention... |
OMIM:618342 |
| Diamond-Blackfan Anemia 11 |
|
Absent thumb, Forearm reduction defects, Hypoplasia of the radius, Radioulnar synostosis, Hypopla... |
OMIM:614900 |
| Chorea, Childhood-Onset, With Psychomotor Retardation |
|
Abnormal head movements |
OMIM:616939 |
| Microtriplication 11Q24.1 |
|
Genu valgum, Joint dislocation, Short stature, Limitation of joint mobility, Short neck, Posterio... |
ORPHA:289522 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Genu varum, Coxa valga, Finger syndactyly, Tibial torsion, Hip dislocation, Clinodactyly of the 5... |
ORPHA:3320 |
| Otopalatodigital Syndrome Type 1 |
|
Increased bone mineral density, Synostosis of carpal bones, Limitation of joint mobility, Elbow d... |
ORPHA:90650 |
| Smith-Magenis Syndrome |
|
Hyperactivity, Head-banging, Self hugging, Short stature, Abnormality of the outer ear, Impaired ... |
OMIM:182290 |
| Duane Retraction Syndrome |
|
Narrow internal auditory canal, Sensorineural hearing impairment, Blepharospasm, Camptodactyly, S... |
ORPHA:233 |
| Radius, Aplasia Of, With Cleft Lip/Palate |
|
Absent radius |
OMIM:179400 |
| Foxg1 Syndrome |
|
Short stature, Stereotypical hand wringing, Choreoathetosis, Abnormal repetitive mannerisms, Kyph... |
ORPHA:561854 |
| Optic Atrophy 11 |
|
Hyperactivity, Macrotia, Optic atrophy, Short stature, Ataxia, Optic nerve hypoplasia, Facial dip... |
OMIM:617302 |
| Glycine Encephalopathy With Normal Serum Glycine |
|
Exaggerated startle response, Flexion contracture, Hip contracture, Optic atrophy, Elbow flexion ... |
OMIM:617301 |
| Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Cervical C2/C3 vertebral fusion, Conductive hearing impairment, Sensorineural hearing impairment,... |
OMIM:118100 |
| Dyschondrosteosis-Nephritis Syndrome |
|
Madelung deformity, Radial bowing, Aplasia/Hypoplasia of the radius, Ulnar bowing |
ORPHA:1765 |
| Developmental And Speech Delay Due To Sox5 Deficiency |
|
Vertebral fusion, Optic atrophy, Butterfly vertebrae, Abnormal repetitive mannerisms, Thoracic ky... |
ORPHA:313892 |
| Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Hyperlordosis, Kyphosis, Short stature, Fused cervical vertebrae, Short neck, Low-set ears |
ORPHA:2522 |
| Acromesomelic Dysplasia 4 |
|
Short phalanx of finger, Short toe, Genu valgum, Metaphyseal irregularity, Genu varum, Short meta... |
OMIM:619636 |
| X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Tremor, Macrotia, Short stature, Abnormal repetitive mannerisms |
ORPHA:457240 |
| Microcephaly With Cervical Spine Fusion Anomalies |
|
Vertebral fusion, Short stature, Spinal instability |
OMIM:251250 |
| New-Onset Refractory Status Epilepticus |
|
EEG with frontal epileptiform discharges, EEG with generalized epileptiform discharges, Abnormal ... |
ORPHA:363558 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Gait ataxia, Hyperactivity, Kyphosis, Short stature, Joint laxity, Delayed puberty, Tremor, Abnor... |
OMIM:300354 |
| Intellectual Developmental Disorder, X-Linked 30 |
|
Hyperactivity, Macrotia, Short stature, Hydrocephalus, Agitation, Restlessness |
OMIM:300558 |
| Kniest Dysplasia |
|
Arthropathy, Anterior vertebral fusion, Fused cervical vertebrae, Vertebral wedging, Hypoplasia o... |
ORPHA:485 |
| Optic Atrophy-Intellectual Disability Syndrome |
|
Optic atrophy, Short stature, Repetitive compulsive behavior, Optic nerve hypoplasia, Compulsive ... |
ORPHA:401777 |
| Acrofacial Dysostosis, RodrÃguez Type |
|
Finger syndactyly, Radioulnar synostosis, Abnormal pelvic girdle bone morphology, Hand oligodacty... |
ORPHA:1788 |
| 22Q11.2 Duplication Syndrome |
|
Abnormal repetitive mannerisms, Compulsive behaviors, Attention deficit hyperactivity disorder, S... |
ORPHA:1727 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Hypoplastic iliac wing, Coxa vara, Short 1st metacarpal, Radial bowing, Ivory epiphyses, Narrow p... |
OMIM:210720 |
| Intellectual Developmental Disorder, Autosomal Recessive 61 |
|
Hyperactivity, Joint laxity, Dysmetria, Scoliosis, Low-set ears, Posteriorly rotated ears |
OMIM:617773 |
| Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Absent brainstem auditory responses, Temporal optic disc pallor, Sensorineural hearing impairment... |
ORPHA:1215 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Spinal dysraphism, Sensorineural hearing impairment, Incomplete partition of the cochlea type II,... |
OMIM:617660 |
| Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Abnormal antihelix morphology, Kyphosis, Abnormal repetitive mannerisms, Scoliosis, Growth delay,... |
ORPHA:261144 |
| 9P13 Microdeletion Syndrome |
|
Short stature, Bruxism, Hand tremor, Recurrent otitis media, Abnormality of cartilage of external... |
ORPHA:324313 |
| Multiple Osteochondromas |
|
Deformed radius, Genu valgum, Coxa valga, Abnormal carpal morphology, Femoroacetabular impingemen... |
ORPHA:321 |
| Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Somatic sensory dysfunction, Focal dystonia, Tremor, Dysphagia, Jerky head movements |
ORPHA:240103 |
| Ulnar Agenesis And Endocardial Fibroelastosis |
|
Hand oligodactyly, Aplasia of the ulna |
OMIM:276822 |
| Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Short tubular bones of the hand, Flared iliac wing, Absent epiphyses of the phalanges of the hand... |
ORPHA:93314 |
| Developmental And Epileptic Encephalopathy 110 |
|
Low-set ears, Bruxism, Macrotia, Continuous spike and waves during slow sleep |
OMIM:620149 |
| Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Short stature, Truncal ataxia, Anterior concavity of thoracic vertebrae, Recurrent hand flapping,... |
OMIM:617101 |
| X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome |
|
Joint laxity, Hyperactivity, Scoliosis, Hearing impairment |
ORPHA:457260 |
| Inverted Duplicated Chromosome 15 Syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Joint hypermobility, Growth delay, Low-set, poster... |
ORPHA:3306 |
| Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Chorea, Exaggerated startle response, Macrotia, Short stature, Optic nerve hypoplasia, Joint cont... |
OMIM:617864 |
| Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Tracheobronchomalacia, Hyperactivity, Sensorineural hearing impairment, Joint laxity, Recurrent o... |
OMIM:617751 |
| Tick-Borne Encephalitis |
|
Somatic sensory dysfunction, Back pain, Stiff neck, Abnormal glossopharyngeal nerve morphology, A... |
ORPHA:297 |
| Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Genu valgum, Sensorineural hearing impairment, Normal pressure hydrocephalus, Thoracic scoliosis,... |
ORPHA:300570 |
| Proximal 16P11.2 Microdeletion Syndrome |
|
Conductive hearing impairment, Sensorineural hearing impairment, Craniosynostosis, Choreoathetosi... |
ORPHA:261197 |
| Microcephaly, Short Stature, And Limb Abnormalities |
|
Patellar hypoplasia, Patellar aplasia, Short metacarpal, Hypoplasia of the radius, Radioulnar syn... |
OMIM:617604 |
| Koolen-De Vries Syndrome |
|
Vertebral fusion, Kyphosis, Short stature, Vertebral segmentation defect, Hip dislocation, Scolio... |
ORPHA:96169 |
| Kyphomelic Dysplasia |
|
Short metacarpal, Radial bowing, Flat acetabular roof, Ulnar bowing, Short femur, Femoral bowing,... |
OMIM:211350 |
| Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Exaggerated startle response, Ankle clonus, Ataxia, Low-set ears, Posteriorly rotated ears |
OMIM:618598 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Hyperlordosis, Vertebral fusion, Kyphosis, Achilles tendon contracture, Elbow contracture, Scolio... |
OMIM:606612 |
| Huntington Disease-Like 1 |
|
Gait ataxia, Chorea, Abnormal head movements, Dysmetria, Restlessness, Jerky head movements |
ORPHA:157941 |
| Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Pica, Hyperactivity, Sensorineural hearing impairment, Lumbar scoliosis, Asymmetry of the ears, L... |
OMIM:617796 |
| Koolen-De Vries Syndrome |
|
Sacral dimple, Vertebral fusion, Macrotia, Hyperactivity, Kyphosis, Short stature, Hip dislocatio... |
OMIM:610443 |
| Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Hyperactivity, Macrotia, Recurrent hand flapping, Joint laxity, Recurrent otitis media, Abnormal ... |
ORPHA:449291 |
| Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment |
|
Sacral dimple, Pica, Short stature, Recurrent hand flapping, Low-set ears |
OMIM:618480 |
| Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Macrotia, Optic atrophy, Abnormal repetitive mannerisms, Ataxia, Congenital hip dislocation, Scol... |
ORPHA:496641 |
| Lamb-Shaffer Syndrome |
|
Hyperactivity, Optic atrophy, Thoracic kyphosis, Fused cervical vertebrae, Mild postnatal growth ... |
ORPHA:530983 |
| Larsen Syndrome |
|
Vertebral fusion, Conductive hearing impairment, Accessory carpal bones, Spondylolysis, Short sta... |
OMIM:150250 |
| Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Shoulder dislocation, Macrotia, Generalized joint laxity, Facet joint arthrosis, Osteoarthritis, ... |
OMIM:618000 |
| Severe Intellectual Disability And Progressive Spastic Paraplegia |
|
Generalized joint laxity, Short stature, Acetabular dysplasia, Abnormal repetitive mannerisms, Dy... |
ORPHA:280763 |
| Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Hyperactivity, Macrotia, Short stature, Camptodactyly, Agitation, Ataxia, Short neck, Arthrogrypo... |
ORPHA:369891 |
| Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome |
|
Hyperactivity, Hearing impairment, Intrauterine growth retardation, Optic atrophy |
ORPHA:369939 |
| Megalocornea-Intellectual Disability Syndrome |
|
Genu varum, Sensorineural hearing impairment, Kyphosis, Short stature, Abnormal repetitive manner... |
ORPHA:2479 |
| Charge Syndrome |
|
Sensorineural hearing impairment, Radial head subluxation, Microtia, Postnatal growth retardation... |
OMIM:214800 |
| Intellectual Disability, Birk-Barel Type |
|
Sacral dimple, Congenital finger flexion contractures, Foot joint contracture, Hyperactivity, Lim... |
ORPHA:166108 |
| Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Hyperactivity, Prelingual sensorineural hearing impairment, Sensorineural hearing impairment, Sho... |
ORPHA:73272 |
| Acromesomelic Dysplasia 1 |
|
Short phalanx of finger, Short toe, Short metacarpal, Hypoplasia of the radius, Radial bowing, Lo... |
OMIM:602875 |
| Holzgreve Syndrome |
|
Abnormal morphology of ulna, Abnormal metacarpal morphology, Hand polydactyly |
ORPHA:2167 |
| Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Flexion contracture, Hypoplastic helices, Abnormality of the ear, Repetitive compulsive behavior,... |
ORPHA:391372 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment |
OMIM:109120 |
| Acromesomelic Dysplasia 3 |
|
Aplasia of the proximal phalanx of the 2nd finger, Short phalanx of finger, Short toe, Short femo... |
OMIM:609441 |
| Intellectual Developmental Disorder, X-Linked 21 |
|
Uplifted earlobe, Hyperactivity, Impulsivity, Joint hypermobility |
OMIM:300143 |
| Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Radial bowing, Lower limb undergrowth, Abnormality of fibula morphology, Bowing of the long bones... |
ORPHA:3035 |
| Smith-Magenis Syndrome |
|
Conductive hearing impairment, Short stature, Abnormal repetitive mannerisms, Impaired pain sensa... |
ORPHA:819 |
| Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Abnormal auditory evoked potentials, Optic disc pallor |
OMIM:617523 |
| 2Q31.1 Microdeletion Syndrome |
|
Camptodactyly of finger, Tapered finger, Short foot, Finger syndactyly, Toe syndactyly, Abnormal ... |
ORPHA:251014 |
| Isotretinoin-Like Syndrome |
|
Anotia, Microtia, Hydrocephalus, Aplasia/Hypoplasia of the inner ear, Bilateral sensorineural hea... |
ORPHA:2306 |
| Gm1 Gangliosidosis Type 1 |
|
Exaggerated startle response, Macrotia, Beaking of vertebral bodies T12-L3, Acetabular dysplasia,... |
ORPHA:79255 |
| Diaphanospondylodysostosis |
|
Abnormal vertebral segmentation and fusion, Absent or minimally ossified vertebral bodies, Short ... |
ORPHA:66637 |
| Fibrodysplasia Ossificans Progressiva |
|
Conductive hearing impairment, Sensorineural hearing impairment, Ectopic ossification in ligament... |
OMIM:135100 |
| Moebius Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Aplasia/Hypoplasia involving the metacarpal b... |
ORPHA:570 |
| Stapes Ankylosis With Broad Thumbs And Toes |
|
Stapes ankylosis, Conductive hearing impairment, Congenital stapes ankylosis, Proximal/middle sym... |
OMIM:184460 |
| 3P25.3 Microdeletion Syndrome |
|
Sacral dimple, Knee flexion contracture, Sensorineural hearing impairment, Abnormal repetitive ma... |
ORPHA:435638 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Short metacarpal, Clinodactyly, Radioulnar synostosis, Carpal synostosis, Syndactyly, Brachydacty... |
OMIM:605282 |
| Shashi-Pena Syndrome |
|
Cervical C2/C3 vertebral fusion, Kyphosis, Accelerated skeletal maturation, Osteoporosis, Scolios... |
OMIM:617190 |
| Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Short stature, Fused cervical vertebrae, Butterfly vertebrae, Spina bifida occulta, Attention def... |
OMIM:619227 |
| Otopalatodigital Syndrome Type 2 |
|
Camptodactyly of finger, Myelomeningocele, Encephalocele, Increased bone mineral density, Synosto... |
ORPHA:90652 |
| 13Q12.3 Microdeletion Syndrome |
|
Hyperactivity, Short stature, Camptodactyly, Impaired pain sensation, Kyphoscoliosis, Chronic oti... |
ORPHA:412035 |
| 2Q37 Microdeletion Syndrome |
|
Conductive hearing impairment, Short stature, Abnormal repetitive mannerisms, Compulsive behavior... |
ORPHA:1001 |
| Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Cervical C2/C3 vertebral fusion, Short stature, Moderate hearing impairment, Recurrent otitis media |
ORPHA:370010 |
| Mucopolysaccharidosis, Type Iiia |
|
Ovoid thoracolumbar vertebrae, Hyperactivity, Dense calvaria, Scoliosis, Joint stiffness, Hearing... |
OMIM:252900 |
| Ivic Syndrome |
|
Triphalangeal thumb, Absent thumb, Upper limb undergrowth, Limited elbow movement, Short 1st meta... |
OMIM:147750 |
| Pyruvate Dehydrogenase E2 Deficiency |
|
Paroxysmal dystonia, Choreoathetosis, Ataxia, Generalized dystonia, Dystonia, Jerky head movements |
OMIM:245348 |
| Camurati-Engelmann Disease |
|
Genu valgum, Coxa valga, Abnormality of the humerus, Abnormal morphology of the radius, Cortical ... |
ORPHA:1328 |
| Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis |
|
Posterior fusion of lumbosacral vertebrae |
OMIM:192800 |
| Macrocephaly-Developmental Delay Syndrome |
|
EEG with generalized slow activity, Abnormal speech discrimination, Abnormal repetitive mannerisms |
ORPHA:397612 |
| Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Abnormal auditory evoked potentials, Optic disc pallor, Sensorineural hearing impairment |
OMIM:619260 |
| Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Sacral dimple, Vertebral fusion, Hyperextensibility of the finger joints, Short stature, Recurren... |
OMIM:213980 |
| 19P13.3 Microduplication Syndrome |
|
Hip subluxation, Hyperactivity, Microtia, Hip dislocation, Osteoporosis, Kyphoscoliosis, Growth d... |
ORPHA:447980 |
| Intellectual Developmental Disorder, X-Linked 107 |
|
Hyperactivity, Macrotia, Prominent crus of helix, Attention deficit hyperactivity disorder, Abnor... |
OMIM:301013 |
| Intellectual Developmental Disorder, Autosomal Dominant 43 |
|
Hyperactivity, Microtia, Ataxia, Impulsivity, Attached earlobe, Dystonia, Umbilical hernia |
OMIM:616977 |
| Fanconi Anemia, Complementation Group I |
|
Conductive hearing impairment, Short stature, Fused cervical vertebrae, Optic nerve hypoplasia, S... |
OMIM:609053 |
| Ritscher-Schinzel Syndrome 3 |
|
Short first metatarsal, Short 1st metacarpal, Shortening of all distal phalanges of the fingers, ... |
OMIM:619135 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Sacral dimple, Vertebral segmentation defect, Vertebral fusion, Death in infancy |
OMIM:618845 |
| Huntington Disease-Like 3 |
|
Chorea, Flexion contracture, Abnormal head movements, Progressive gait ataxia, Dystonia |
ORPHA:157946 |
| Multiple Pterygium Syndrome, Escobar Variant |
|
Neck pterygia, Conductive hearing impairment, Flexion contracture, Multiple joint contractures, A... |
OMIM:265000 |
| Kbg Syndrome |
|
Vertebral fusion, Macrotia, Vertebral arch anomaly, Short stature, Thoracic kyphosis, Short neck,... |
OMIM:148050 |
| Spondylocarpotarsal Synostosis Syndrome |
|
Hyperlordosis, Vertebral fusion, C2-C3 subluxation, Sensorineural hearing impairment, Capitate-ha... |
OMIM:272460 |
| 7Q11.23 Microduplication Syndrome |
|
Abnormal optic disc morphology, Short neck, Chronic otitis media, Hearing impairment, Sacral dimp... |
ORPHA:96121 |
| Atelosteogenesis, Type I |
|
Neonatal death, Encephalocele, Vertebral hypoplasia, Rhizomelia, Fused cervical vertebrae, Elbow ... |
OMIM:108720 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity, Recurrent otitis media |
OMIM:301076 |
| Leukodystrophy, Hypomyelinating, 13 |
|
Exaggerated startle response, Optic atrophy, Ataxia, Prolonged brainstem auditory evoked potentia... |
OMIM:616881 |
| Ring Chromosome 21 Syndrome |
|
Short stature, Thoracic hemivertebrae, Holoprosencephaly, Scoliosis, Fused thoracic vertebrae |
ORPHA:1445 |
| Achondroplasia |
|
Genu varum, Short femoral neck, Radial bowing, Ulnar bowing, Short femur, Bowing of the legs, Fem... |
OMIM:100800 |
| Chromosome Xq13 Duplication Syndrome |
|
Hyperactivity, Finger joint hypermobility, Recurrent otitis media, Attention deficit hyperactivit... |
OMIM:301069 |
| Verheij Syndrome |
|
Vertebral fusion, Short stature, Hip dislocation, Short neck, Scoliosis, Growth delay, Hemivertebrae |
OMIM:615583 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Hyperactivity, Scoliosis, Hearing impairment |
OMIM:300958 |
| Frontometaphyseal Dysplasia 1 |
|
Camptodactyly of finger, Wrist flexion contracture, Partial fusion of tarsals, Genu valgum, Senso... |
OMIM:305620 |
| Vertebral Hypersegmentation And Orofacial Anomalies |
|
Six lumbar vertebrae, Darwin tubercle of helix, Thickened helices, Joint hypermobility |
OMIM:619122 |
| Plaa-Associated Neurodevelopmental Disorder |
|
Exaggerated startle response, Contractures of the large joints, Sensorineural hearing impairment,... |
ORPHA:521426 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Exaggerated startle response, Contractures of the large joints, Optic atrophy, Kyphosis, Dysphagi... |
OMIM:617527 |
| Postaxial Acrofacial Dysostosis |
|
Supernumerary vertebrae, Conductive hearing impairment, Radioulnar synostosis, Congenital hip dis... |
OMIM:263750 |
| Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
2-3 toe syndactyly, Radial bowing, Ulnar bowing, Hypoplastic ischia, Single transverse palmar cre... |
OMIM:617866 |
| 16P11.2P12.2 Microdeletion Syndrome |
|
Camptodactyly of finger, Hyperactivity, Short stature, Tics, Impaired pain sensation, Chronic oti... |
ORPHA:261211 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Short phalanx of finger, Absent thumb, Coxa valga, Hip dislocation, Hepatosplenomegaly, Phocomeli... |
OMIM:274000 |
| Oslam Syndrome |
|
Radioulnar synostosis, Clinodactyly of the 5th finger |
ORPHA:2760 |
| Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral fusion, Myelomeningocele, Short stature, Block vertebrae, Vertebral segmentation defect... |
OMIM:613686 |
| Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Hyperactivity, Accelerated skeletal maturation, Ataxia, Scoliosis, Low-set ears, Posteriorly rota... |
OMIM:618430 |
| Rauch-Steindl Syndrome |
|
Sacral dimple, Hyperactivity, Prominent crus of helix, Short stature, Miscarriage, Attached earlo... |
OMIM:619695 |
| Neurodevelopmental Disorder With Variable Motor And Language Impairment |
|
Chorea, Macrotia, Prominent crus of helix, Stereotypical hand wringing, Bruxism, Ataxia, Joint hy... |
OMIM:617804 |
| Mucopolysaccharidosis Type 2 |
|
Flexion contracture of digit, Conductive hearing impairment, Sensorineural hearing impairment, Ot... |
ORPHA:580 |
| Schinzel-Giedion Syndrome |
|
Infantile sensorineural hearing impairment, Sacrococcygeal teratoma, Low-set ears, Neural tube de... |
ORPHA:798 |
| Cri-Du-Chat Syndrome |
|
Hyperactivity, Optic atrophy, Short neck, Scoliosis, Abnormal pinna morphology, Overfriendliness,... |
OMIM:123450 |
| 19P13.12 Microdeletion Syndrome |
|
Hyperactivity, Conductive hearing impairment, Sensorineural hearing impairment, Kyphosis, Arthrog... |
ORPHA:254346 |
| Martsolf Syndrome 1 |
|
Short phalanx of finger, Short toe, Broad femoral neck, Avascular necrosis of the capital femoral... |
OMIM:212720 |
| Insulin-Like Growth Factor I Deficiency |
|
Hyperactivity, Sensorineural hearing impairment, Short stature, Delayed skeletal maturation, Oste... |
OMIM:608747 |
| Thakker-Donnai Syndrome |
|
Cervical C2/C3 vertebral fusion, Macrotia, Communicating hydrocephalus, Short neck, Hemivertebrae... |
ORPHA:1780 |
| X-Linked Intellectual Disability, Cabezas Type |
|
Camptodactyly of finger, Hyperactivity, Kyphosis, Short stature, Tremor, Short neck, Abnormal ear... |
ORPHA:85293 |
| Mucopolysaccharidosis, Type Iiic |
|
Ovoid thoracolumbar vertebrae, Hyperactivity, Dense calvaria, Kyphoscoliosis, Dysphagia, Beaking ... |
OMIM:252930 |
| Gomez-Lopez-Hernandez Syndrome |
|
Hyperactivity, Short stature, Ataxia, Posteriorly rotated ears, Low-set ears, Craniosynostosis, W... |
OMIM:601853 |
| Hydroxykynureninuria |
|
Congenital sensorineural hearing impairment, Abnormal repetitive mannerisms |
ORPHA:79155 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Chorea, Macrotia, Repetitive compulsive behavior, Ataxia, Pain insensitivity, Dysphagia, Low-set ... |
OMIM:300260 |
| Keratoconus Posticus Circumscriptus |
|
Abnormal vertebral segmentation and fusion, Short neck, Limited elbow extension and supination, G... |
OMIM:244600 |
| Dyggve-Melchior-Clausen Disease |
|
Genu valgum, Hypoplastic acetabulae, Hyperactivity, Rhizomelia, Broad carpal bones, Hypoplasia of... |
ORPHA:239 |
| Intellectual Developmental Disorder, Autosomal Dominant 22 |
|
Short stature, Stereotypical hand wringing, Growth delay, Abnormal pinna morphology, Low-set ears... |
OMIM:612337 |
| Ventriculomegaly With Defects Of The Radius And Kidney |
|
Bowed forearm bones, Forearm undergrowth, Absent thumb, Absent radius |
OMIM:602200 |
| Wiedemann-Steiner Syndrome |
|
Sacral dimple, Hyperactivity, Abnormality of the elbow, Rhizomelia, Short stature, Accelerated sk... |
ORPHA:319182 |
| Seckel Syndrome 1 |
|
Hyperactivity, Elbow flexion contracture, Hip dislocation, Dislocated radial head, Delayed skelet... |
OMIM:210600 |
| Mosaic Trisomy 20 |
|
Vertebral fusion, Kyphosis, Fused cervical vertebrae, Vertebral segmentation defect, Spinal canal... |
ORPHA:1724 |
| Gorlin Syndrome |
|
Vertebral fusion, Vertebral wedging, Hydrocephalus, Scoliosis, Hemivertebrae |
ORPHA:377 |
| Dilated Cardiomyopathy With Ataxia |
|
Optic atrophy, Repetitive compulsive behavior, Ataxia, Action tremor, Growth delay, Bilateral sen... |
ORPHA:66634 |
| Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Absent brainstem auditory responses, Head titubation, Vestibular areflexia |
ORPHA:3240 |
| Intellectual Disability-Strabismus Syndrome |
|
Congenital finger flexion contractures, Hyperactivity, Macrotia, Joint contracture of the hand, S... |
ORPHA:363528 |
| Brachydactyly, Type B1 |
|
Delayed cranial suture closure, Hypoplastic sacrum, Vertebral fusion, Thoracolumbar scoliosis, Jo... |
OMIM:113000 |
| Stankiewicz-Isidor Syndrome |
|
Sacral dimple, Hyperactivity, Abnormal optic disc morphology, Low-set ears, Hearing impairment |
OMIM:617516 |
| Marbach-Schaaf Neurodevelopmental Syndrome |
|
Hemidystonia, Recurrent hand flapping, Torticollis, Recurrent otitis media, Tremor, Attention def... |
OMIM:619680 |
| Spondylocostal Dysostosis 5 |
|
Vertebral fusion, Low back pain, Butterfly vertebrae, Severe short stature, Short neck, Scoliosis... |
OMIM:122600 |
| Asparagine Synthetase Deficiency |
|
Exaggerated startle response, Macrotia |
OMIM:615574 |
| Marshall Syndrome |
|
Coxa valga, Hypoplastic ilia, Radial bowing, Irregular distal femoral epiphysis, Ulnar bowing, Cl... |
OMIM:154780 |
| White-Sutton Syndrome |
|
Hyperactivity, Sensorineural hearing impairment, Optic atrophy, Short stature, Joint laxity, Abno... |
ORPHA:468678 |
| Van Den Ende-Gupta Syndrome |
|
Tapered finger, Hallux valgus, Joint contracture of the hand, Slender long bone, Long hallux, Cam... |
OMIM:600920 |
| Sifrim-Hitz-Weiss Syndrome |
|
Short stature, Fused cervical vertebrae, Flat acetabular roof, Low-set ears, Cupped ear, Hearing ... |
OMIM:617159 |
| Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Exaggerated startle response, Hearing impairment |
OMIM:620114 |
| Mucopolysaccharidosis, Type Iiib |
|
Ovoid thoracolumbar vertebrae, Hyperactivity, Dense calvaria, Joint stiffness, Hearing impairment |
OMIM:252920 |
| Multiple Synostoses Syndrome 2 |
|
Vertebral fusion, Humeroradial synostosis, Finger symphalangism, Carpal synostosis, Proximal symp... |
OMIM:610017 |
| Late-Infantile/Juvenile Krabbe Disease |
|
EEG with persistent abnormal rhythmic activity, Prolonged brainstem auditory evoked potentials, D... |
ORPHA:206443 |
| Treacher-Collins Syndrome |
|
Conductive hearing impairment, Encephalocele, Narrow internal auditory canal, Blepharospasm, Micr... |
ORPHA:861 |
| Bilateral Generalized Polymicrogyria |
|
Short stature, Oculogyric crisis, Abnormal repetitive mannerisms, Growth delay, Dystonia, Oral-ph... |
ORPHA:208447 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
External ear malformation, Exaggerated startle response, Dystonia, Ataxia |
ORPHA:438216 |
| Rett Syndrome, Congenital Variant |
|
Chorea, Kyphosis, Protruding ear, Tongue thrusting, Scoliosis, Athetosis, Dystonia, Bruxism |
OMIM:613454 |
| Adenylosuccinase Deficiency |
|
Gait ataxia, Hyperactivity, Prominent metopic ridge, Growth delay, Low-set ears, Opisthotonus |
OMIM:103050 |
| 3Q29 Microdeletion Syndrome |
|
Macrotia, Attention deficit hyperactivity disorder, Joint hyperflexibility, Six lumbar vertebrae,... |
ORPHA:65286 |
| Ocular Motor Apraxia |
|
Jerky head movements |
OMIM:257550 |
| White-Sutton Syndrome |
|
Hyperactivity, Sensorineural hearing impairment, Short stature, Tics, Joint laxity, Optic nerve h... |
OMIM:616364 |
| Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Abnormal repetitive mannerisms, Ataxia, Congenital hip dislocation, Scoliosis, Low-set ears, Cont... |
ORPHA:457279 |
| Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome |
|
Sacral dimple, Posterior fusion of lumbosacral vertebrae, Joint stiffness, Tarsal synostosis, Abn... |
ORPHA:2064 |
| Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Camptodactyly of finger, Knee flexion contracture, Multiple joint contractures, Craniosynostosis,... |
ORPHA:468631 |
| Tay-Sachs Disease |
|
Exaggerated startle response, Ankle clonus, Optic atrophy, Dysmetria, Tremor, Limited knee extens... |
ORPHA:845 |
| Chronic Bilirubin Encephalopathy |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment |
ORPHA:529808 |
| Acute Bilirubin Encephalopathy |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment |
ORPHA:529799 |
| Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Exaggerated startle response, Ankle clonus, Flexion contracture, Optic atrophy, Kyphosis, Scolios... |
OMIM:609541 |
| Fibrous Dysplasia Of Bone |
|
Coxa vara, Abnormality of the humerus, Abnormal morphology of the radius, Abnormal pelvis bone mo... |
ORPHA:249 |
| Frontometaphyseal Dysplasia |
|
Camptodactyly of finger, Wrist flexion contracture, Conductive hearing impairment, Sensorineural ... |
ORPHA:1826 |
| Robinow Syndrome, Autosomal Recessive 1 |
|
Delayed cranial suture closure, Hypoplastic sacrum, Vertebral fusion, Thoracolumbar scoliosis, Sh... |
OMIM:268310 |
| Microphthalmia, Syndromic 3 |
|
Vertebral fusion, Sensorineural hearing impairment, Vertebral hypoplasia, Short stature, Optic ne... |
OMIM:206900 |
| Mucopolysaccharidosis, Type Iiid |
|
Ovoid thoracolumbar vertebrae, Hyperactivity, Thoracic scoliosis, Short stature, Elbow flexion co... |
OMIM:252940 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Joint hypermobility, Jerky head movements, Delayed skeletal maturation, Osteopenia, Scoliosis, Lo... |
ORPHA:369837 |
| Poland Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Small hand, Finger symphalangism, Abnormality... |
ORPHA:2911 |
| Tibial Hemimelia |
|
Short tibia, Polydactyly, Coxa valga, Hip dislocation, Metatarsus adductus, Aplasia of the 2nd me... |
ORPHA:93322 |
| 21Q22.11Q22.12 Microdeletion Syndrome |
|
Sacral dimple, Hyperactivity, Short stature, Microtia, Camptodactyly, Recurrent otitis media, Ton... |
ORPHA:261323 |
| Myhre Syndrome |
|
Vertebral fusion, Birth length less than 3rd percentile, Microtia, Short stature, Camptodactyly, ... |
OMIM:139210 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Cervical hemivertebrae, Generalized joint laxity, Short stature, Spina bifida, Fused cervical ver... |
ORPHA:508498 |
| Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Generalized lymphadenopathy, Absent tonsils, Lymph node hypoplasia, Aplasia of the thymus, Spleno... |
OMIM:602450 |
| Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
|
Cervical vertebral bodies with decreased anteroposterior diameter, Fusion of midcervical facet jo... |
OMIM:606842 |
| Ulnar-Mammary Syndrome |
|
Camptodactyly of finger, Abnormal finger morphology, Aplasia of the pectoralis major muscle, Abno... |
ORPHA:3138 |
| Deafness With Labyrinthine Aplasia, Microtia, And Microdontia |
|
Aplasia of the inner ear, Sensorineural hearing impairment, Microtia, Abnormal cranial nerve morp... |
ORPHA:90024 |
| Norrie Disease |
|
Macrotia, Sensorineural hearing impairment, Optic atrophy, Abnormal repetitive mannerisms, Delaye... |
ORPHA:649 |
| Bent Bone Dysplasia Syndrome 2 |
|
Short tibia, Hypoplastic iliac wing, Short sternum, Hypoplastic acetabulae, Short 1st metacarpal,... |
OMIM:620076 |
| Arthrogryposis, Distal, Type 2A |
|
Abnormal auditory evoked potentials, Hearing impairment |
OMIM:193700 |
| Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Limb dystonia, Sensorineural hearing impairment, Scoliosis, Abnormal repetitive mannerisms |
ORPHA:457351 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Abnormality of the cervical spine, Kyphosis, Birth length less than 3rd percentile, Abnormal repe... |
ORPHA:464311 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
|
Flexion contracture, Fused cervical vertebrae, Antecubital pterygium, Short neck, Scoliosis, Tars... |
OMIM:618469 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Sensorineural hearing impairment, Abnormality of somatosensory evoked potentials, Abnormal audito... |
ORPHA:99027 |
| Paget Disease Of Bone 2, Early-Onset |
|
Femoral bowing, Short femur, Osteosclerosis of the ulna, Bowing of the long bones, Fractures of t... |
OMIM:602080 |
| Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Impaired vibration sensation in the lower limbs, Exaggerated startle response, Multiple joint con... |
ORPHA:320406 |
| 2Q23.1 Microdeletion Syndrome |
|
Hyperactivity, Short stature, Ataxia, Abnormal repetitive mannerisms, Polyphagia, Growth delay |
ORPHA:228402 |
| Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Humeroradial synostosis, Narrow pelvis bone, Ulnar bowing, Camptodactyly, Femoral bowing, Arachno... |
OMIM:207410 |
| Acro-Renal-Ocular Syndrome |
|
Vertebral fusion, Conductive hearing impairment, Sensorineural hearing impairment, Aganglionic me... |
ORPHA:959 |
| X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Short stature, Thoracic hemivertebrae, Fused cervical vertebrae, Abnormal sacrum morphology, Scol... |
ORPHA:1436 |
| Adult Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, EEG abnormality |
ORPHA:206448 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Hyperactivity, Macrotia, Abnormality of the cervical spine, Multiple joint contractures, Kyphosis... |
ORPHA:464306 |
| Transketolase Deficiency |
|
Abnormal repetitive mannerisms, Compulsive behaviors, Attention deficit hyperactivity disorder, P... |
ORPHA:488618 |
| Faciodigitogenital Syndrome, Autosomal Recessive |
|
Vertebral fusion, Microtia, Camptodactyly, Hyperextensible hand joints, Proportionate short statu... |
OMIM:227330 |
| Waardenburg Syndrome, Type 1 |
|
Spina bifida, Supernumerary vertebrae, Myelomeningocele, Congenital sensorineural hearing impairment |
OMIM:193500 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Branchial anomaly, Abnormal autonomic nervous system physiology, Vertebral segmentation defect, I... |
ORPHA:453499 |
| X-Linked Cerebral Adrenoleukodystrophy |
|
Hyperactivity, Ankle clonus, Ataxia, Dysmetria, Myelopathy, Dysphagia, Hamstring contractures, He... |
ORPHA:139396 |
| Mucopolysaccharidosis Type 3 |
|
Conductive hearing impairment, Flexion contracture, Optic atrophy, Abnormality of the middle ear ... |
ORPHA:581 |
| Behavioral Variant Of Frontotemporal Dementia |
|
EEG with continuous slow activity, Collectionism, Abnormal repetitive mannerisms |
ORPHA:275864 |
| Kleefstra Syndrome |
|
Thickened helices, Short stature, Abnormal repetitive mannerisms, Limitation of joint mobility, H... |
ORPHA:261494 |
| Charcot-Marie-Tooth Disease Type 1F |
|
Absent brainstem auditory responses, Decreased nerve conduction velocity, Sensorineural hearing i... |
ORPHA:101085 |
| Caudal Regression Syndrome |
|
Arrhinencephaly, Hypoplastic vertebral bodies, Abnormal vertebral segmentation and fusion, Impuls... |
ORPHA:3027 |
| Mental Retardation, Skeletal Dysplasia, And Abducens Palsy |
|
Short stature, Thoracic hemivertebrae, Fused cervical vertebrae, Scoliosis, Prominent metopic ridge |
OMIM:309620 |
| Infantile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, Hearing impa... |
ORPHA:206436 |
| Monosomy 9Q22.3 |
|
Hyperactivity, Kyphosis, Thickened ears, Hydrocephalus, Accelerated skeletal maturation, Short ne... |
ORPHA:77301 |
| Autosomal Recessive Ataxia Due To Pex10 Deficiency |
|
