Deafness, Aminoglycoside-Induced |
|
Aminoglycoside-induced hearing loss |
OMIM:580000 |
Deafness, Autosomal Dominant 17 |
|
High-frequency hearing impairment |
OMIM:603622 |
Deafness, Autosomal Dominant 7 |
|
High-frequency hearing impairment |
OMIM:601412 |
Deafness, Autosomal Dominant 2B |
|
High-frequency hearing impairment |
OMIM:612644 |
Deafness, Autosomal Recessive 102 |
|
Profound hearing impairment |
OMIM:615974 |
Deafness, Autosomal Recessive 91 |
|
Progressive hearing impairment |
OMIM:613453 |
Deafness, Autosomal Dominant 18 |
|
Progressive hearing impairment |
OMIM:606012 |
Tune Deafness |
|
Hearing impairment |
OMIM:191200 |
Deafness, Autosomal Dominant 15 |
|
Hearing impairment |
OMIM:602459 |
Deafness, Autosomal Recessive 65 |
|
Hearing impairment |
OMIM:610248 |
Deafness, Autosomal Dominant 89 |
|
Hearing impairment |
OMIM:620284 |
Deafness, Autosomal Dominant 88 |
|
Hearing impairment |
OMIM:620283 |
Deafness, Autosomal Recessive 86 |
|
Hearing impairment |
OMIM:614617 |
Deafness, Autosomal Dominant 24 |
|
Hearing impairment |
OMIM:606282 |
Deafness, Autosomal Recessive 6 |
|
Hearing impairment |
OMIM:600971 |
Deafness, Autosomal Dominant 51 |
|
Hearing impairment |
OMIM:613558 |
Deafness, Autosomal Recessive 33 |
|
Hearing impairment |
OMIM:607239 |
Deafness, Autosomal Recessive 96 |
|
Hearing impairment |
OMIM:614414 |
Deafness, Autosomal Recessive 93 |
|
Hearing impairment |
OMIM:614899 |
Deafness, Autosomal Dominant 54 |
|
Hearing impairment |
OMIM:615649 |
Deafness, Autosomal Dominant 52 |
|
Hearing impairment |
OMIM:607683 |
Deafness, Autosomal Recessive 55 |
|
Hearing impairment |
OMIM:609952 |
Deafness, Autosomal Recessive 47 |
|
Hearing impairment |
OMIM:609946 |
Deafness, Autosomal Recessive 106 |
|
Hearing impairment |
OMIM:617637 |
Deafness, Autosomal Recessive 107 |
|
Hearing impairment |
OMIM:617639 |
Auditory Neuropathy, Autosomal Dominant 3 |
|
Abnormal speech discrimination, Hearing impairment |
OMIM:619832 |
Deafness, Autosomal Recessive 1B |
|
Abnormal vestibular function, Hearing impairment |
OMIM:612645 |
Deafness, Autosomal Recessive 84A |
|
Abnormal vestibular function, Hearing impairment |
OMIM:613391 |
Deafness, Autosomal Dominant 65 |
|
Abnormal vestibular function, Progressive hearing impairment |
OMIM:616044 |
Deafness, Autosomal Recessive 25 |
|
Progressive sensorineural hearing impairment, Hearing impairment |
OMIM:613285 |
Deafness, Autosomal Recessive 30 |
|
Progressive sensorineural hearing impairment, Progressive hearing impairment |
OMIM:607101 |
Deafness, Autosomal Recessive 29 |
|
Sensorineural hearing impairment, Hearing impairment |
OMIM:614035 |
Deafness, Autosomal Recessive 57 |
|
Sensorineural hearing impairment, Hearing impairment |
OMIM:618003 |
Deafness, Autosomal Recessive 20 |
|
Sensorineural hearing impairment, Hearing impairment |
OMIM:604060 |
Deafness, Autosomal Recessive 13 |
|
Sensorineural hearing impairment, Hearing impairment |
OMIM:603098 |
Deafness, Mid-Tone Neural |
|
Sensorineural hearing impairment, Progressive hearing impairment |
OMIM:124700 |
Deafness, Autosomal Dominant 49 |
|
Sensorineural hearing impairment, Progressive hearing impairment |
OMIM:608372 |
Deafness, X-Linked 4 |
|
Sensorineural hearing impairment, High-frequency hearing impairment |
OMIM:300066 |
Auditory Neuropathy, Autosomal Dominant 1 |
|
Abnormal speech discrimination, Sensorineural hearing impairment, Absence of acoustic reflex, Abn... |
OMIM:609129 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 12 |
|
Bilateral tonic-clonic seizure |
OMIM:614847 |
Seizures, Benign Familial Neonatal, 3 |
|
Bilateral tonic-clonic seizure |
OMIM:608217 |
Deafness, Autosomal Dominant 81 |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:619500 |
Deafness, Autosomal Dominant 74 |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:618140 |
Deafness, Autosomal Recessive 110 |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:618094 |
Deafness, Autosomal Recessive 7 |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:600974 |
Deafness, Autosomal Dominant 56 |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:615629 |
Deafness, Autosomal Recessive 1A |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:220290 |
Deafness, Autosomal Dominant 71 |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:617605 |
Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex |
OMIM:601071 |
Deafness, Autosomal Dominant 20 |
|
Progressive sensorineural hearing impairment, Bilateral sensorineural hearing impairment |
OMIM:604717 |
Deafness, Autosomal Dominant 6 |
|
Progressive sensorineural hearing impairment, Low-frequency sensorineural hearing impairment |
OMIM:600965 |
Deafness, Autosomal Recessive 77 |
|
Bilateral sensorineural hearing impairment |
OMIM:613079 |
Deafness, Autosomal Recessive 109 |
|
Congenital sensorineural hearing impairment |
OMIM:618013 |
Deafness, Autosomal Dominant 3B |
|
Adult onset sensorineural hearing impairment |
OMIM:612643 |
Deafness, Autosomal Recessive 63 |
|
Congenital sensorineural hearing impairment |
OMIM:611451 |
Deafness, Autosomal Dominant 31 |
|
Old-aged sensorineural hearing impairment |
OMIM:608645 |
Deafness, Autosomal Dominant 83 |
|
Bilateral sensorineural hearing impairment |
OMIM:619808 |
Deafness, X-Linked 3 |
|
Congenital sensorineural hearing impairment |
OMIM:300030 |
Seizures, Benign Familial Neonatal, 2 |
|
Focal clonic seizure, Bilateral tonic-clonic seizure |
OMIM:121201 |
Deafness, Autosomal Recessive 15 |
|
Sensorineural hearing impairment, Prelingual sensorineural hearing impairment |
OMIM:601869 |
Deafness, Autosomal Recessive 79 |
|
Progressive sensorineural hearing impairment, Sensorineural hearing impairment |
OMIM:613307 |
Deafness, Autosomal Dominant 22 |
|
Progressive sensorineural hearing impairment, Sensorineural hearing impairment |
OMIM:606346 |
Deafness, Sensorineural, Autosomal-Mitochondrial Type |
|
Progressive sensorineural hearing impairment, Sensorineural hearing impairment |
OMIM:221745 |
Deafness, Autosomal Recessive 67 |
|
Sensorineural hearing impairment, Bilateral sensorineural hearing impairment |
OMIM:610265 |
Deafness, Autosomal Dominant 73 |
|
Sensorineural hearing impairment |
OMIM:617663 |
Deafness, Autosomal Dominant 69 |
|
Sensorineural hearing impairment |
OMIM:616697 |
Deafness, Autosomal Recessive 17 |
|
Sensorineural hearing impairment |
OMIM:603010 |
Deafness, Autosomal Recessive 8 |
|
Sensorineural hearing impairment |
OMIM:601072 |
Deafness, Autosomal Recessive 26 |
|
Sensorineural hearing impairment |
OMIM:605428 |
Deafness, Autosomal Dominant 48 |
|
Sensorineural hearing impairment |
OMIM:607841 |
Deafness, Autosomal Recessive 113 |
|
Sensorineural hearing impairment |
OMIM:618410 |
Deafness, Autosomal Dominant 40 |
|
Sensorineural hearing impairment |
OMIM:616357 |
Deafness, Autosomal Dominant 37 |
|
Sensorineural hearing impairment |
OMIM:618533 |
Deafness, Autosomal Dominant 75 |
|
Sensorineural hearing impairment |
OMIM:618778 |
Neuropathy, Hereditary Motor And Sensory, With Deafness, Impaired Intellectual Development, And Absent Sensory Large Myelinated Fibers |
|
Sensorineural hearing impairment |
OMIM:214370 |
Deafness, Autosomal Recessive 100 |
|
Sensorineural hearing impairment |
OMIM:618422 |
Deafness, Autosomal Dominant 76 |
|
Sensorineural hearing impairment |
OMIM:618787 |
Deafness, Autosomal Recessive 14 |
|
Sensorineural hearing impairment |
OMIM:603678 |
Deafness, Autosomal Recessive 114 |
|
Sensorineural hearing impairment |
OMIM:618456 |
Deafness, Autosomal Recessive 115 |
|
Sensorineural hearing impairment |
OMIM:618457 |
Deafness, Autosomal Recessive 99 |
|
Sensorineural hearing impairment |
OMIM:618481 |
Deafness, Autosomal Recessive 27 |
|
Sensorineural hearing impairment |
OMIM:605818 |
Deafness, Autosomal Recessive 112 |
|
Sensorineural hearing impairment |
OMIM:618257 |
Deafness, Autosomal Recessive 68 |
|
Sensorineural hearing impairment |
OMIM:610419 |
Deafness, Autosomal Recessive 21 |
|
Sensorineural hearing impairment |
OMIM:603629 |
Deafness, Y-Linked 2 |
|
Sensorineural hearing impairment |
OMIM:400047 |
Deafness, Autosomal Dominant 10 |
|
Sensorineural hearing impairment |
OMIM:601316 |
Deafness, Autosomal Recessive 120 |
|
Sensorineural hearing impairment |
OMIM:620238 |
Deafness, Autosomal Dominant 3A |
|
Sensorineural hearing impairment |
OMIM:601544 |
Deafness, Autosomal Recessive 16 |
|
Sensorineural hearing impairment |
OMIM:603720 |
Deafness, Autosomal Dominant 12 |
|
Sensorineural hearing impairment |
OMIM:601543 |
Deafness, Autosomal Recessive 31 |
|
Sensorineural hearing impairment |
OMIM:607084 |
Deafness, Autosomal Recessive 66 |
|
Sensorineural hearing impairment |
OMIM:610212 |
Deafness, Autosomal Recessive 5 |
|
Sensorineural hearing impairment |
OMIM:600792 |
Deafness, Autosomal Recessive 59 |
|
Sensorineural hearing impairment |
OMIM:610220 |
Deafness, Autosomal Dominant 59 |
|
Sensorineural hearing impairment |
OMIM:612642 |
Deafness, Autosomal Recessive 61 |
|
Sensorineural hearing impairment |
OMIM:613865 |
Deafness, Autosomal Dominant 13 |
|
Sensorineural hearing impairment |
OMIM:601868 |
Deafness, Autosomal Recessive 117 |
|
Sensorineural hearing impairment |
OMIM:619174 |
Deafness, Autosomal Recessive 22 |
|
Sensorineural hearing impairment |
OMIM:607039 |
Deafness, Autosomal Dominant 27 |
|
Sensorineural hearing impairment |
OMIM:612431 |
Deafness, Autosomal Recessive 98 |
|
Sensorineural hearing impairment |
OMIM:614861 |
Deafness, Autosomal Dominant 21 |
|
Sensorineural hearing impairment |
OMIM:607017 |
Deafness, Autosomal Recessive 116 |
|
Sensorineural hearing impairment |
OMIM:619093 |
Deafness, Autosomal Dominant 68 |
|
Sensorineural hearing impairment |
OMIM:616707 |
Deafness, Autosomal Recessive 97 |
|
Sensorineural hearing impairment |
OMIM:616705 |
Deafness, Autosomal Recessive 23 |
|
Sensorineural hearing impairment |
OMIM:609533 |
Deafness, Autosomal Recessive 42 |
|
Sensorineural hearing impairment |
OMIM:609646 |
Intellectual Developmental Disorder, X-Linked 46 |
|
Sensorineural hearing impairment |
OMIM:300436 |
Deafness, Autosomal Dominant 66 |
|
Sensorineural hearing impairment |
OMIM:616969 |
Deafness, Autosomal Dominant 44 |
|
Sensorineural hearing impairment |
OMIM:607453 |
Deafness, Autosomal Dominant 47 |
|
Sensorineural hearing impairment |
OMIM:608652 |
Deafness, Autosomal Dominant 28 |
|
Sensorineural hearing impairment |
OMIM:608641 |
Deafness, Neural, Congenital Moderate |
|
Sensorineural hearing impairment |
OMIM:221500 |
Deafness, Autosomal Dominant 53 |
|
Sensorineural hearing impairment |
OMIM:609965 |
Deafness, Autosomal Dominant 30 |
|
Sensorineural hearing impairment |
OMIM:606451 |
Deafness, Autosomal Recessive 18A |
|
Sensorineural hearing impairment |
OMIM:602092 |
Deafness, Autosomal Recessive 53 |
|
Sensorineural hearing impairment |
OMIM:609706 |
Deafness, Autosomal Dominant 84 |
|
Sensorineural hearing impairment |
OMIM:619810 |
Deafness, Autosomal Dominant 25 |
|
Sensorineural hearing impairment |
OMIM:605583 |
Deafness, Autosomal Recessive 51 |
|
Sensorineural hearing impairment |
OMIM:609941 |
Deafness, X-Linked 1 |
|
Sensorineural hearing impairment |
OMIM:304500 |
Seizures, Benign Familial Infantile, 2 |
|
Bilateral tonic-clonic seizure, Focal impaired awareness seizure |
OMIM:605751 |
Deafness, Autosomal Recessive 104 |
|
Abnormal vestibular function, Prelingual sensorineural hearing impairment, Absent brainstem audit... |
OMIM:616515 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 7 |
|
Bilateral tonic-clonic seizure, Myoclonus |
OMIM:604827 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 3 |
|
Seizure, Bilateral tonic-clonic seizure |
OMIM:608762 |
Epilepsy, Familial Temporal Lobe, 3 |
|
Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Deja vu aura |
OMIM:611630 |
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4 |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure |
OMIM:611364 |
Epilepsy, Familial Temporal Lobe, 5 |
|
Visually-induced seizure, Bilateral tonic-clonic seizure, Focal aware seizure, Focal impaired awa... |
OMIM:614417 |
Opticocochleodentate Degeneration |
|
Visual loss, Optic atrophy, Cochlear degeneration, Hearing impairment |
OMIM:258700 |
Epilepsy, Familial Temporal Lobe, 8 |
|
Bilateral tonic-clonic seizure with focal onset, Focal aware autonomic seizure with epigastric se... |
OMIM:616461 |
Epilepsy, Familial Temporal Lobe, 1 |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal autonomic ... |
OMIM:600512 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 17 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... |
OMIM:602477 |
Febrile Seizures, Familial, 1 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... |
OMIM:121210 |
Febrile Seizures, Familial, 5 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... |
OMIM:609255 |
Febrile Seizures, Familial, 6 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... |
OMIM:609253 |
Febrile Seizures, Familial, 4 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... |
OMIM:604352 |
Spinocerebellar Ataxia, Autosomal Recessive 3 |
|
Blindness, Cochlear degeneration, Hearing impairment |
OMIM:271250 |
Cochleosaccular Degeneration-Cataract Syndrome |
|
Progressive sensorineural hearing impairment, Seizure, Cochlear degeneration |
ORPHA:3233 |
Seizures, Benign Familial Infantile, 5 |
|
Bilateral tonic-clonic seizure, Focal impaired awareness seizure |
OMIM:617080 |
Epilepsy, Familial Adult Myoclonic, 1 |
|
Bilateral tonic-clonic seizure, Jerk-locked premyoclonus spikes, EEG with irregular generalized s... |
OMIM:601068 |
Centralopathic Epilepsy |
|
Focal-onset seizure, Bilateral tonic-clonic seizure with focal onset, Nocturnal seizures |
OMIM:117100 |
Optic Atrophy 8 |
|
Abnormal auditory evoked potentials, Central scotoma, Sensorineural hearing impairment, Visual lo... |
OMIM:616648 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 11 |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor... |
OMIM:607628 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Abnormal auditory evoked potentials, Red-green dyschromatopsia, Central scotoma, Optic atrophy, R... |
OMIM:125250 |
Deafness, X-Linked 6 |
|
Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea |
OMIM:300914 |
Generalized Epilepsy With Febrile Seizures Plus, Type 1 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... |
OMIM:604233 |
Meniere Disease |
|
Vertigo, Tinnitus, Hearing impairment |
OMIM:156000 |
Generalized Epilepsy With Febrile Seizures Plus, Type 9 |
|
Bilateral tonic-clonic seizure, Tonic seizure, Generalized non-motor (absence) seizure, Focal imp... |
OMIM:616172 |
Syndactyly Type 4 |
|
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ... |
ORPHA:93405 |
Seizures, Benign Familial Neonatal, 1 |
|
Febrile seizure (within the age range of 3 months to 6 years), Focal clonic seizure, Bilateral to... |
OMIM:121200 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Status epilepticus |
ORPHA:22 |
Usher Syndrome, Type Iic |
|
Congenital sensorineural hearing impairment |
OMIM:605472 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 14 |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Generalized myo... |
OMIM:616685 |
Epilepsy, Myoclonic Juvenile |
|
Morning myoclonic jerks, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure,... |
OMIM:254770 |
Generalized Epilepsy With Febrile Seizures Plus, Type 7 |
|
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Feb... |
OMIM:613863 |
Acromesomelic Dysplasia 2A |
|
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... |
OMIM:200700 |
Acromesomelic Dysplasia 2C |
|
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida... |
OMIM:201250 |
Epilepsy, Familial Adult Myoclonic, 4 |
|
EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Jerk-locked premyoclonus spike... |
OMIM:615127 |
Deafness, Autosomal Dominant 2A |
|
Tinnitus, Hearing impairment |
OMIM:600101 |
Deafness, Autosomal Dominant 58 |
|
Tinnitus, Hearing impairment |
OMIM:615654 |
Generalized Epilepsy With Febrile Seizures Plus, Type 2 |
|
Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Focal-onset seizure, Generalized non-mo... |
OMIM:604403 |
Epilepsy, Familial Temporal Lobe, 6 |
|
Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness seizure, Status epilept... |
OMIM:615697 |
Deafness, Autosomal Dominant 50 |
|
Progressive sensorineural hearing impairment, Sensorineural hearing impairment, Progressive heari... |
OMIM:613074 |
Epilepsy, Idiopathic Generalized |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) se... |
OMIM:600669 |
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10 |
|
Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil... |
OMIM:617924 |
Generalized Epilepsy With Febrile Seizures Plus, Type 4 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... |
OMIM:609800 |
Osebold-Remondini Syndrome |
|
Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Tarsal synostosis, Type A ... |
OMIM:112910 |
Usher Syndrome Type 1 |
|
Scotoma, Visual loss, Sensorineural hearing impairment, Nyctalopia, Abnormal cochlea morphology, ... |
ORPHA:231169 |
Chromosome Xq21 Deletion Syndrome |
|
Constriction of peripheral visual field, Nyctalopia, Progressive visual loss, Conductive hearing ... |
OMIM:303110 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Hypoplasia of the ulna, Short femur, Absent thumb, Cryptorchidism, Fibular hypoplasia, Aplasia/Hy... |
OMIM:612447 |
Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Micromelia, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Limb undergrowth, Short ... |
OMIM:118651 |
Epilepsy, Familial Temporal Lobe, 2 |
|
Bilateral tonic-clonic seizure, Febrile status epilepticus, Focal impaired awareness seizure, Foc... |
OMIM:608096 |
Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Caudate atrophy, Abnormal vestibular function, Cerebral visu... |
ORPHA:52368 |
Deafness, Autosomal Dominant 9 |
|
Vertigo, Abnormality of the vestibulocochlear nerve, Postlingual sensorineural hearing impairment... |
OMIM:601369 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 10 |
|
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Gen... |
OMIM:613060 |
Usher Syndrome Type 3 |
|
Scotoma, Visual loss, Sensorineural hearing impairment, Nyctalopia, Abnormal cochlea morphology, ... |
ORPHA:231183 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials |
OMIM:601382 |
Intellectual Developmental Disorder, X-Linked 100 |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure |
OMIM:300923 |
Epilepsy, Familial Adult Myoclonic, 3 |
|
Bilateral tonic-clonic seizure, Jerk-locked premyoclonus spikes, Focal-onset seizure, EEG with ph... |
OMIM:613608 |
Acromesomelic Dysplasia, Grebe Type |
|
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr... |
ORPHA:2098 |
Epilepsy, Juvenile Absence, Susceptibility To, 1 |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor... |
OMIM:607631 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 15 |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Eyelid myoclonus, Seizur... |
OMIM:618357 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Seizure, Abnormality of vi... |
ORPHA:320401 |
Developmental And Epileptic Encephalopathy 9 |
|
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Focal hemi... |
OMIM:300088 |
Deafness, Autosomal Dominant 87 |
|
Enlarged vestibular aqueduct, Hearing impairment, Incomplete partition of the cochlea type II |
OMIM:620281 |
Non-Syndromic Genetic Deafness |
|
Moderate hearing impairment, Low-frequency sensorineural hearing impairment, Conductive hearing i... |
ORPHA:87884 |
Leri-Weill Dyschondrosteosis |
|
Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul... |
OMIM:127300 |
Langer Mesomelic Dysplasia |
|
Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Short femoral neck... |
OMIM:249700 |
Léri-Weill Dyschondrosteosis |
|
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... |
ORPHA:240 |
Deafness, Autosomal Dominant 86 |
|
Abnormal vestibular function, Sensorineural hearing impairment, Tinnitus |
OMIM:620280 |
Febrile Seizures, Familial, 11 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... |
OMIM:614418 |
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Hyperactivity, Aggressive behavior, Tremor, Limb dystonia, Bilateral coxa valga, Hearing impairment |
OMIM:620270 |
Acheiropody |
|
Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t... |
OMIM:200500 |
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Syndactyly, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short tibia, Fibular aplasia |
OMIM:246570 |
Fibular Hemimelia |
|
Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol... |
ORPHA:93323 |
Tibial Hemimelia |
|
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased... |
ORPHA:93322 |
Lethal Faciocardiomelic Dysplasia |
|
Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ... |
ORPHA:1972 |
Acrocapitofemoral Dysplasia |
|
Micromelia, Short proximal phalanx of thumb, Coxa vara, Hypoplastic iliac wing, Short palm, Short... |
OMIM:607778 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
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Absent brainstem auditory responses, Facial palsy, Cerebral visual impairment, Sensorineural hear... |
OMIM:617519 |
Autosomal Dominant Epilepsy With Auditory Features |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo... |
ORPHA:101046 |
Smith-Magenis syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation, Brachydactyly |
DECIPHER:8 |
Endove Syndrome, Limb-Only Type |
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Short middle phalanx of the 2nd finger, Fibular hypoplasia, Hypoplastic labia majora, Disproporti... |
OMIM:619217 |
Fraxe Intellectual Disability |
|
Hyperactivity, Impulsivity, Aggressive behavior, Prominent ear helix, Stereotypical body rocking,... |
ORPHA:100973 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Juvenile Absence Epilepsy |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizur... |
ORPHA:1941 |
Deafness, Autosomal Dominant 64 |
|
Sensorineural hearing impairment, Tinnitus |
OMIM:614152 |
Deafness, Autosomal Dominant 67 |
|
Sensorineural hearing impairment, Tinnitus |
OMIM:616340 |
Deafness, Autosomal Dominant 36 |
|
Sensorineural hearing impairment, Tinnitus |
OMIM:606705 |
Deafness, Y-Linked 1 |
|
Sensorineural hearing impairment, Tinnitus |
OMIM:400043 |
Deafness, Autosomal Dominant 43 |
|
Sensorineural hearing impairment, Tinnitus |
OMIM:608394 |
Deafness, Autosomal Dominant 77 |
|
Sensorineural hearing impairment, Tinnitus |
OMIM:618915 |
Deafness, Autosomal Dominant 33 |
|
Sensorineural hearing impairment, Tinnitus |
OMIM:614211 |
Deafness, Autosomal Dominant 72 |
|
Sensorineural hearing impairment, Tinnitus |
OMIM:617606 |
Deafness, Autosomal Dominant 82 |
|
Sensorineural hearing impairment, Tinnitus |
OMIM:619804 |
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
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Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication |
OMIM:188740 |
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type |
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Short tibia, Hypoplasia of the radius, Pseudoarthrosis |
OMIM:156230 |
Deafness, Autosomal Dominant 41 |
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Progressive sensorineural hearing impairment, Tinnitus |
OMIM:608224 |
Deafness, Autosomal Dominant 16 |
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Adult onset sensorineural hearing impairment, Tinnitus |
OMIM:603964 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Tremor, Decreased fertility, Calf muscle hypertrophy, Dysphagia, Testicular atrophy |
OMIM:313200 |
Canavan Disease |
|
Blindness, Optic atrophy, Seizure, EEG abnormality, Abnormality of visual evoked potentials, Visu... |
ORPHA:141 |
Mesomelic Dysplasia, Savarirayan Type |
|
Abnormal foot morphology, Talipes equinovalgus, Hip dislocation, Mesomelia, Short tibia, Dislocat... |
OMIM:605274 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Exaggerated startle response, Attention deficit hyperactivity disorder |
OMIM:617028 |
Ravine Syndrome |
|
Abnormal auditory evoked potentials, Atrophy/Degeneration affecting the brainstem |
ORPHA:99852 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
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Absent brainstem auditory responses, Constriction of peripheral visual field, Sensorineural heari... |
ORPHA:1215 |
Developmental And Epileptic Encephalopathy 24 |
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Bilateral tonic-clonic seizure, Focal-onset seizure, Clonic seizure, Generalized non-motor (absen... |
OMIM:615871 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
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EEG abnormality, Hyperactivity, Low-set ears |
ORPHA:436151 |
Stxbp1-Related Encephalopathy |
|
Hyperactivity, EEG with abnormally slow frequencies, Tremor, Multifocal epileptiform discharges, ... |
ORPHA:599373 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Myopia, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Sensorineural h... |
OMIM:601455 |
Pendred Syndrome |
|
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear malformation |
OMIM:274600 |
Orofaciodigital Syndrome Type 10 |
|
Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Micrognathia, Shor... |
ORPHA:2756 |
Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
Gollop-Wolfgang Complex |
|
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o... |
ORPHA:1986 |
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Hyperactivity, Impulsivity, Micrognathia, Aggressive behavior, Cryptorchidism, EEG abnormality, S... |
OMIM:604317 |
Otosclerosis 7 |
|
Otosclerosis, Progressive hearing impairment, Conductive hearing impairment, Abnormality of the a... |
OMIM:611572 |
Acrofacial Dysostosis Syndrome Of Rodriguez |
|
11 pairs of ribs, Posteriorly rotated ears, Overlapping toe, Micrognathia, Fibular hypoplasia, Ta... |
OMIM:201170 |
Deafness-Hypogonadism Syndrome |
|
Stapes ankylosis, Abnormality of the middle ear ossicles, Severe conductive hearing impairment, C... |
ORPHA:90646 |
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome |
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Blindness, Optic atrophy, Spinocerebellar atrophy, Cochlear degeneration, Hearing impairment |
ORPHA:95433 |
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
|
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl... |
OMIM:600791 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Abnormality of visual evoked potentials, Optic disc pallor, Abnormal auditory evoked potentials, ... |
OMIM:617523 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
OMIM:309548 |
Developmental And Epileptic Encephalopathy 104 |
|
Self-injurious behavior, Hyperactivity, Agitation, Hypsarrhythmia |
OMIM:619970 |
Neurodegeneration With Brain Iron Accumulation 2A |
|
Cerebellar atrophy, Decreased nerve conduction velocity, Visual loss, Optic atrophy, Cerebral atr... |
OMIM:256600 |
Orofaciodigital Syndrome Viii |
|
Syndactyly, Short tibia, Polydactyly |
OMIM:300484 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Resting tremor, Hyperactivity, Focal EEG discharges with secondary generalization, Anorexia, Aggr... |
ORPHA:3077 |
Laurin-Sandrow Syndrome |
|
Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B... |
OMIM:135750 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Continuous spike and waves during slow sleep, Impulsivity, Attention deficit hyper... |
OMIM:301008 |
Branchiootic Syndrome 1 |
|
Mixed hearing impairment, Dilatated internal auditory canal, Hypoplasia of the cochlea, Cupped ea... |
OMIM:602588 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Short humerus, Small scrotum, Abnormal pinna morphology, Hypospadias, Rhizomelia, Short femur, Sa... |
OMIM:607143 |
Hypogonadism, Male |
|
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy |
OMIM:241100 |
Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... |
OMIM:612576 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... |
ORPHA:3329 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... |
OMIM:601596 |
Vestibulocochlear Dysfunction, Progressive |
|
Vestibular areflexia, Tinnitus, Progressive hearing impairment |
OMIM:193005 |
Late-Infantile/Juvenile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Blindness, Decreased nerve conduction velocity, V... |
ORPHA:206443 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
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Hyperactivity, Aggressive behavior, Tremor, Optic atrophy, Abnormal repetitive mannerisms |
OMIM:619470 |
Slc35A2-Cdg |
|
Camptodactyly of finger, Coxa valga, Precocious puberty, Metatarsus adductus, Sensorineural heari... |
ORPHA:356961 |
Optic Atrophy 5 |
|
Optic disc pallor, Constriction of peripheral visual field, Central scotoma, Abnormality of patte... |
OMIM:610708 |
Microphthalmia With Limb Anomalies |
|
Micrognathia, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of... |
ORPHA:1106 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Hyperactivity, Small hand, Hip dislocation, Short foot, Talipes equinovarus, Bruxism |
OMIM:300434 |
Intellectual Developmental Disorder, X-Linked 111 |
|
Hyperactivity, Aggressive behavior, Phonic tics, Compulsive behaviors, Dystonia |
OMIM:301107 |
Abcd Syndrome |
|
Total intestinal aganglionosis, Aganglionic megacolon, Abnormal auditory evoked potentials, Heari... |
OMIM:600501 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... |
OMIM:228930 |
Krabbe Disease |
|
Abnormal flash visual evoked potentials, Diffuse cerebral atrophy, Blindness, Decreased nerve con... |
OMIM:245200 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Myopia, Sensorineural hearing impairment, Optic atrophy, Seizure, EEG abnormality, Low-set ears, ... |
ORPHA:2971 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Bifid scrotum, Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatars... |
OMIM:609945 |
Laurin-Sandrow Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Talipes, Tarsal synostosis, A... |
ORPHA:2378 |
Intellectual Developmental Disorder, X-Linked 104 |
|
Hyperactivity, Abnormal pinna morphology, Aggressive behavior, Tremor, Optic atrophy |
OMIM:300983 |
Orofaciodigital Syndrome Iv |
|
Toe syndactyly, Postaxial polydactyly, Micrognathia, Hand polydactyly, Foot polydactyly, Low-set ... |
OMIM:258860 |
8p23.1 deletion syndrome |
|
Cryptorchidism, Hyperactivity |
DECIPHER:39 |
Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Attention deficit hyperactivity disorder, Impulsivity, Hypsarrhythmia |
OMIM:617113 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Decreased serum testosterone concentration, Hyperplasia of the Leydig cells, Decreased female lib... |
ORPHA:52901 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Cerebellar atrophy, Optic disc pallor, Abnormal auditory evoked potentials, Sensorineural hearing... |
OMIM:619260 |
Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Cupped ear, Hand monodacty... |
OMIM:119100 |
Intellectual Developmental Disorder, X-Linked 101 |
|
Hyperactivity, Clinodactyly, Macrotia, Optic atrophy |
OMIM:300928 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Hyperactivity, Tremor, EEG abnormality, Self-injurious behavior, Low-set ears, Bruxism, Abnormal ... |
OMIM:618718 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Pes planus, Hyperactivity, Hypospadias, Abnormal pinna morphology, Sandal gap, Aggressive behavio... |
OMIM:300354 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Abnormal amplitude of flash visual evoked potentials, Myoclonic seizure, EEG with generalized slo... |
ORPHA:168491 |
Femoral-Facial Syndrome |
|
Short femur, Maternal diabetes, Micrognathia, Cryptorchidism, Long penis, Coxa vara, Abnormal fib... |
ORPHA:1988 |
Chromosome 3Q29 Deletion Syndrome |
|
Hyperactivity, Posteriorly rotated ears, Tapered finger, Aggressive behavior, Long fingers, Low-s... |
OMIM:609425 |
Deafness, Autosomal Recessive 118, With Cochlear Aplasia |
|
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear aplasia |
OMIM:619553 |
Hyperprolinemia, Type I |
|
EEG abnormality, Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior |
OMIM:239500 |
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
|
Decreased motor nerve conduction velocity, Optic disc pallor, Mild neurosensory hearing impairmen... |
OMIM:601152 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Decreased nerve conduction velocity, Sensorineural hearing impairment, Seizure, Abnormality of vi... |
ORPHA:1933 |
Stuve-Wiedemann Syndrome 1 |
|
Micrognathia, Femoral bowing, Tibial bowing, Knee flexion contracture, Short tibia, Short phalanx... |
OMIM:601559 |
Otosclerosis 8 |
|
Otosclerosis, Hearing impairment |
OMIM:612096 |
Otosclerosis 3 |
|
Otosclerosis, Hearing impairment |
OMIM:608244 |
Fragile X Syndrome |
|
Macroorchidism, postpubertal, Pes planus, Hyperactivity, Self-biting, Recurrent hand flapping, Ma... |
OMIM:300624 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small... |
ORPHA:93356 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Exaggerated startle response, Dysplastic testes, Cryptorchidism, Testicular dysgenesis, Ambiguous... |
OMIM:608800 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Proximal placement of thumb, Micrognathia, Protruding ear, Clinodactyly of the 5th finger, Short ... |
OMIM:268305 |
Spinocerebellar Ataxia Type 32 |
|
Male infertility, Azoospermia, Testicular atrophy |
ORPHA:276183 |
Acromesomelic Dysplasia 3 |
|
Short phalanx of finger, Hypoplasia of the ulna, Elevated circulating luteinizing hormone level, ... |
OMIM:609441 |
Acromesomelic Dysplasia 2B |
|
Short metacarpal, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Absent toe, Short meta... |
OMIM:228900 |
Spinocerebellar Ataxia 32 |
|
Azoospermia, Testicular atrophy, Infertility |
OMIM:613909 |
Bent Bone Dysplasia Syndrome 2 |
|
Ulnar deviation of the hand, Bowed humerus, Ulnar bowing, Femoral bowing, Short sternum, Short ri... |
OMIM:620076 |
Blount Disease |
|
Abnormality of the knee, Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis... |
ORPHA:2768 |
Testicular Regression Syndrome |
|
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... |
ORPHA:983 |
Infantile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Diffuse cerebral atrophy, Blindness, Decreased ne... |
ORPHA:206436 |
Microcephaly-Micromelia Syndrome |
|
Micromelia, Micrognathia, Absent thumb, Absent radius, Missing ribs, Humeroradial synostosis, For... |
OMIM:251230 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Microretrognathia, Rhizomelia, Postaxial polydactyly, Cryptorchidism, Squared iliac bones, Preaxi... |
OMIM:616300 |
Eiken Syndrome |
|
Absence of the sacrum, Epiphyseal dysplasia, Abnormal acetabulum morphology, Abnormal fingertip m... |
ORPHA:79106 |
2Q23.1 Microdeletion Syndrome |
|
Hypoplasia of penis, Hyperactivity, Sandal gap, Cryptorchidism, Polyphagia, Self-injurious behavi... |
ORPHA:228402 |
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome |
|
Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia... |
ORPHA:988 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Hyperactivity, Aggressive behavior, Tremor, Choreoathetosis, Dystonia |
OMIM:612716 |
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly |
OMIM:228250 |
Hyperekplexia-Epilepsy Syndrome |
|
EEG with temporal focal spikes, Exaggerated startle response |
ORPHA:163985 |
Weismann-Netter Syndrome |
|
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the thyroid gland, Abnormal... |
ORPHA:3344 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Syndactyly, Toe syndactyly, Low-set ears, Clinodactyly of the 5th finger, Amelia, Testicular atrophy |
OMIM:601163 |
Aarskog-Scott Syndrome |
|
Hyperextensibility of the finger joints, Bilateral cryptorchidism, Short palm, Syndactyly, Elevat... |
OMIM:305400 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Short metacarpal, Diabetes mellitus, Hypospadias, Hyperactivity, Cryptorchidism, Short metatarsal... |
OMIM:614613 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Sclerosis of middle... |
ORPHA:85188 |
47,Xyy Syndrome |
|
Male infertility, Hyperactivity, Hypospadias, Impulsivity, Cryptorchidism, Increased circulating ... |
ORPHA:8 |
Craniosynostosis With Fibular Aplasia |
|
Cryptorchidism, Fibular aplasia |
OMIM:218550 |
Guanidinoacetate Methyltransferase Deficiency |
|
Hyperactivity, Aggressive behavior, Self-injurious behavior, Athetosis, Dystonia |
ORPHA:382 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Hallux valgus, Hyperactivity, Aggressive behavior, Anteverted ears, Macrotia, Abnormal repetitive... |
OMIM:615541 |
Mesomelic Dysplasia, Savarirayan Type |
|
Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Hip dislocation, Hig... |
ORPHA:85170 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Low-set, posteriorly rotated ears, Hyperactivity, Aggressive behavior, Precocious puberty, Crypto... |
ORPHA:3306 |
Fg Syndrome 3 |
|
Hyperactivity, Broad hallux, Cryptorchidism, Sensorineural hearing impairment, Broad thumb |
OMIM:300406 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:109120 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal widening, Preaxial ... |
OMIM:613091 |
Deafness, Autosomal Dominant 80 |
|
Congenital sensorineural hearing impairment, Dilated vestibule of the inner ear, Cochlear aplasia |
OMIM:619274 |
Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder, Hypothyroidism, Mo... |
OMIM:619927 |
Wolfram Syndrome 1 |
|
Diabetes mellitus, Diabetes insipidus, Tremor, Sensorineural hearing impairment, Optic atrophy, L... |
OMIM:222300 |
Leukodystrophy, Hypomyelinating, 13 |
|
Prolonged brainstem auditory evoked potentials, Optic atrophy, Visual impairment |
OMIM:616881 |
Orofaciodigital Syndrome Ix |
|
Short tibia, Toe syndactyly, Hand polydactyly, Camptodactyly |
OMIM:258865 |
Pelizaeus-Merzbacher Disease |
|
Optic atrophy, Seizure, Abnormality of visual evoked potentials, Cerebral cortical atrophy, Visua... |
ORPHA:702 |
Omodysplasia 2 |
|
Dyspareunia, Short humerus, Hypospadias, Posteriorly rotated ears, Micrognathia, Cryptorchidism, ... |
OMIM:164745 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Nail-biting, Hyperactivity, Aggressive behavior, EEG with generalized epileptiform discharges, Se... |
OMIM:619827 |
Intellectual Developmental Disorder, X-Linked 21 |
|
Macroorchidism, Hyperactivity, Impulsivity, Uplifted earlobe |
OMIM:300143 |
Acromelic Frontonasal Dysostosis |
|
Syndactyly, Optic nerve hypoplasia, Cryptorchidism, Preaxial polydactyly, Preaxial foot polydacty... |
OMIM:603671 |
Chromosome 2Q37 Deletion Syndrome |
|
Short metacarpal, Short fourth metatarsal, Hyperactivity, Aggressive behavior, Abnormal repetitiv... |
OMIM:600430 |
X-Linked Intellectual Disability, Cabezas Type |
|
Hypoplasia of penis, Toe syndactyly, Sandal gap, Camptodactyly of finger, Down-sloping shoulders,... |
ORPHA:85293 |
Multiple Epiphyseal Dysplasia, Lowry Type |
|
Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Delayed epiphyseal ossification, F... |
ORPHA:166016 |
Kennedy Disease |
|
Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction |
ORPHA:481 |
Stankiewicz-Isidor Syndrome |
|
Hyperactivity, Hypospadias, Micrognathia, Absent thumb, Cryptorchidism, Short thumb, 2-3 toe synd... |
OMIM:617516 |
Cln5 Disease |
|
Cerebellar atrophy, Generalized-onset seizure, Atrophy/Degeneration affecting the central nervous... |
ORPHA:228360 |
Bor Syndrome |
|
Facial palsy, Abnormality of the middle ear ossicles, External ear malformation, Hypoplasia of th... |
ORPHA:107 |
Omodysplasia 1 |
|
Short humerus, Rhizomelia, Increased fibular diameter, Micrognathia, Limited knee flexion, Crypto... |
OMIM:258315 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... |
OMIM:308700 |
Atelosteogenesis Type Iii |
|
Absent humerus, Epiphyseal stippling of the humerus, Micrognathia, Short tubular bones of the han... |
ORPHA:56305 |
Generalized Epilepsy With Febrile Seizures-Plus |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-m... |
ORPHA:36387 |
Microphthalmia With Limb Anomalies |
|
Toe syndactyly, Posteriorly rotated ears, Unilateral cryptorchidism, Sandal gap, Capitate-hamate ... |
OMIM:206920 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Hyperactivity, Dystonia, Impulsivity, Aggressive behavior, EEG abnormality, Dysphagia |
ORPHA:500180 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, Myopia, Aganglionic megacolon, Short-segment aganglionic meg... |
OMIM:609136 |
Arthrogryposis, Distal, Type 2A |
|
Hip contracture, Shoulder flexion contracture, Abnormal auditory evoked potentials, Hearing impai... |
OMIM:193700 |
Orofaciodigital Syndrome Type 2 |
|
Finger syndactyly, Broad hallux, Micrognathia, Short tibia, Adactyly, Broad first metatarsal, Pos... |
ORPHA:2751 |
Thrombocytopenia-Absent Radius Syndrome |
|
Low-set, posteriorly rotated ears, Finger syndactyly, Tibial torsion, Micrognathia, Absent radius... |
ORPHA:3320 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Absent gallbladder, Abnormal pinna morphology, Septate vagina, Micrognathia, Postaxial polydactyl... |
OMIM:617925 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Optic disc pallor, Exaggerated startle response, Optic atrophy, Absent Achilles reflex, Ankle clo... |
OMIM:609541 |
Xq21 Microdeletion Syndrome |
|
Stapes ankylosis, Dilatated internal auditory canal, Sensorineural hearing impairment, Optic atro... |
ORPHA:1435 |
Gm2 Gangliosidosis, Ab Variant |
|
Abnormal fear-induced behavior, Exaggerated startle response, Inappropriate behavior, Dystonia |
ORPHA:309246 |
Chronic Bilirubin Encephalopathy |
|
Seizure, Sensorineural hearing impairment, Abnormal auditory evoked potentials |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Seizure, Sensorineural hearing impairment, Abnormal auditory evoked potentials |
ORPHA:529799 |
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Cerebellar atrophy, Optic disc pallor, Epileptic spasm, Decreased nerve conduction velocity, Opti... |
ORPHA:485421 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
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Talipes equinovarus, Short tibia, Short femur, Glandular hypospadias |
OMIM:620306 |
16P12.1P12.3 Triplication Syndrome |
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Hallux valgus, Nail-biting, Hyperactivity, Decreased response to growth hormone stimulation test,... |
ORPHA:485405 |
Lesch-Nyhan Syndrome |
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Hip dislocation, Dysphagia, Opisthotonus, Choreoathetosis, Self-injurious behavior, Dystonia, Tes... |
OMIM:300322 |
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly |
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Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Bilateral talipes ... |
OMIM:119800 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
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Bulging epiphyses, Bowing of the long bones, Rickets of the lower limbs, Delayed epiphyseal ossif... |
OMIM:600785 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
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Hyperactivity, EEG with generalized polyspikes, Precocious puberty, Aggressive behavior, Preaxial... |
ORPHA:163681 |
Myotonic Dystrophy 1 |
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Facial diplegia, Hypogonadism, Dysphagia, Cholelithiasis, Obsessive-compulsive trait, Testicular ... |
OMIM:160900 |
Kallmann Syndrome With Spastic Paraplegia |
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Hypothalamic gonadotropin-releasing hormone deficiency, Pes cavus, Hypogonadotropic hypogonadism,... |
OMIM:308750 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
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Absent brainstem auditory responses, Diffuse cerebral atrophy, Vestibular areflexia, Seizure |
ORPHA:3240 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
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Exaggerated startle response, Overlapping toe, Posteriorly rotated ears, Ankle clonus, Low-set ears |
OMIM:618598 |
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
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Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Abnormal tibia morphology, Fibul... |
ORPHA:2634 |
Adult-Onset Autosomal Dominant Leukodystrophy |
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Orthostatic hypotension, EEG with generalized slow activity, Upper limb postural tremor, Abnormal... |
ORPHA:99027 |
Acheiropodia |
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Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e... |
ORPHA:931 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
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Aplasia/Hypoplasia of the thumb, Short humerus, Absent radius, Ulnar bowing, Split hand, Mesomeli... |
OMIM:171480 |
Cri-Du-Chat Syndrome |
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Microretrognathia, Syndactyly, Short metacarpal, Pes planus, Hypospadias, Abnormal pinna morpholo... |
OMIM:123450 |
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome |
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Myopia, Abnormal pinna morphology, Cerebral visual impairment, Corpus callosum atrophy, Optic atr... |
ORPHA:480898 |
Seckel Syndrome 1 |
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11 pairs of ribs, Pes planus, Ivory epiphyses, Hyperactivity, Abnormal pinna morphology, Hypospad... |
OMIM:210600 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
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Tremor, Cryptorchidism, Exaggerated startle response, Hearing impairment |
OMIM:620327 |
Faciocardiomelic Dysplasia, Lethal |
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Hypoplasia of the ulna, Radial deviation of the hand, Talipes, Micrognathia, Short thumb, Hypopla... |
OMIM:227270 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
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External genital hypoplasia, Micrognathia, Tibial bowing, Hypoplastic iliac wing, Small proximal ... |
ORPHA:96334 |
Deafness, Unilateral |
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Unilateral deafness |
OMIM:125000 |
Charcot-Marie-Tooth Disease Type 1F |
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Absent brainstem auditory responses, Flexion contracture of finger, Restless legs, Optic nerve hy... |
ORPHA:101085 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
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Optic disc pallor, Exaggerated startle response, Optic atrophy, Hyporeflexia of lower limbs, Pes ... |
ORPHA:320406 |
Myoclonic-Astatic Epilepsy |
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EEG with polyspike wave complexes, Syndactyly, Hyperactivity, EEG with focal spike waves, Tremor,... |
ORPHA:1942 |
Glycine Encephalopathy With Normal Serum Glycine |
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Hip contracture, Exaggerated startle response, Genu recurvatum, Overlapping toe, Optic atrophy, H... |
OMIM:617301 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
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Pancreatic fibrosis, Preaxial hand polydactyly, Postaxial hand polydactyly, Disproportionate shor... |
OMIM:263520 |
Metachromatic Leukodystrophy, Late Infantile Form |
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Decreased nerve conduction velocity, Optic atrophy, Reduced visual acuity, Seizure, Bilateral sen... |
ORPHA:309256 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
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Decreased serum insulin-like growth factor 1, Hyperactivity, Elevated circulating growth hormone ... |
ORPHA:85327 |
Acrofacial Dysostosis, RodrÃguez Type |
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Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Abnormal pelvic gird... |
ORPHA:1788 |
Mend Syndrome |
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Hyperactivity, Broad hallux, Overlapping toe, Abnormal auditory evoked potentials, Micrognathia, ... |
ORPHA:401973 |
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation |
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Cerebellar atrophy, Myopia, Cerebral visual impairment, Corpus callosum atrophy, Optic atrophy, C... |
OMIM:616875 |
Cerebrotendinous Xanthomatosis |
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Resting tremor, Optic disc pallor, Pes cavus, Abnormal auditory evoked potentials, Optic neuropat... |
ORPHA:909 |
Developmental And Epileptic Encephalopathy 3 |
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EEG with burst suppression, Cerebral atrophy, Seizure, Brain atrophy, Generalized myoclonic seizu... |
OMIM:609304 |
Metachromatic Leukodystrophy, Juvenile Form |
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Decreased nerve conduction velocity, Optic atrophy, Reduced visual acuity, Seizure, Bilateral sen... |
ORPHA:309263 |
Optic Atrophy 11 |
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Decreased sensory nerve conduction velocity, Hyperactivity, Optic nerve hypoplasia, Optic atrophy... |
OMIM:617302 |
Plaa-Associated Neurodevelopmental Disorder |
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Low-set, posteriorly rotated ears, Hyperextensibility of the finger joints, Exaggerated startle r... |
ORPHA:521426 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
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Radial bowing, Rhizomelia, Ulnar bowing, Flared metaphysis, Coxa vara, Tibial bowing, Femoral bow... |
OMIM:602111 |
Atelosteogenesis, Type I |
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Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Vertebral hypoplasia, Short meta... |
OMIM:108720 |
Adult Krabbe Disease |
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Visual loss, Prolonged brainstem auditory evoked potentials, EEG abnormality |
ORPHA:206448 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
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Torticollis, Exaggerated startle response, Oculogyric crisis, Tongue thrusting, Limb tremor, Chor... |
OMIM:608643 |
13Q12.3 Microdeletion Syndrome |
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Hyperactivity, Cryptorchidism, Hip dysplasia, Camptodactyly, Self-mutilation, Hemihypotrophy of l... |
ORPHA:412035 |
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
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Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl... |
OMIM:113310 |
Xq12-Q13.3 Duplication Syndrome |
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Optic disc pallor, Hypsarrhythmia, Anterior creases of earlobe, Generalized myoclonic seizure, Cl... |
ORPHA:314389 |
Cockayne Syndrome Type 1 |
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Absent brainstem auditory responses, Optic atrophy, Photophobia, Seizure, Visual impairment, Macr... |
ORPHA:90321 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
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Resting tremor, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Facial palsy, Se... |
OMIM:157640 |
Mogs-Cdg |
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Absent brainstem auditory responses, External genital hypoplasia, Sensorineural hearing impairmen... |
ORPHA:79330 |
Trisomy 10P |
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Absent gallbladder, Thumb contracture, Posteriorly rotated ears, Abnormal auditory evoked potenti... |
ORPHA:171929 |
Phocomelia, Schinzel Type |
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Hypoplasia of penis, Radial bowing, Bowing of the long bones, Talipes, Micromelia, Micrognathia, ... |
ORPHA:2879 |
Stiff Person Spectrum Disorder |
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Exaggerated startle response, Diabetes mellitus, Hypothyroidism |
ORPHA:3198 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
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Exaggerated startle response, Tremor, Truncal titubation, Agitation, Clinodactyly of the 5th finger |
OMIM:618056 |
Neurodevelopmental Disorder With Or Without Autism Or Seizures |
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EEG with burst suppression, Hyperactivity, Absent thumb, Hypsarrhythmia |
OMIM:619239 |
Dyggve-Melchior-Clausen Disease |
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Glenoid fossa hypoplasia, Coxa vara, Hyperactivity, Rhizomelia, Iliac crest serration, Hypoplasia... |
ORPHA:239 |
Micro Syndrome |
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Low-set, posteriorly rotated ears, Cerebral visual impairment, Pachygyria, Optic atrophy, Seizure... |
ORPHA:2510 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
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Limitation of movement at ankles, Hyperactivity, EEG with abnormally slow frequencies, Tremor, Ab... |
ORPHA:98794 |
X-Linked Adrenoleukodystrophy |
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Hyperactivity, Aggressive behavior, Increased circulating ACTH level, Impotence, Progressive hear... |
ORPHA:43 |
Acro-Renal-Mandibular Syndrome |
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Low-set, posteriorly rotated ears, Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapula... |
ORPHA:958 |
Ophthalmomandibulomelic Dysplasia |
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Radial bowing, Coxa valga, Lateral humeral condyle aplasia, Fibular hypoplasia, Mesomelia, Ulnar ... |
OMIM:164900 |
Friedreich Ataxia |
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Optic atrophy, Reduced visual acuity, Visual field defect, Abnormality of visual evoked potential... |
OMIM:229300 |
Gm1 Gangliosidosis Type 1 |
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Exaggerated startle response, Broad long bone diaphyses, Hypoplastic vertebral bodies, Flared ili... |
ORPHA:79255 |
Developmental And Epileptic Encephalopathy 49 |
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Hyperactivity, Exaggerated startle response, Optic atrophy, EEG abnormality, Macrotia |
OMIM:617281 |
Tibial Hemimelia |
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Absent tibia |
OMIM:275220 |
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
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Exaggerated startle response, Hearing impairment |
OMIM:620114 |
Fibular Dimelia-Diplopodia Syndrome |
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Absent tibia |
ORPHA:1757 |
Acromelic Frontonasal Dysplasia |
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Anterior pituitary hypoplasia, Cryptorchidism, Patellar hypoplasia, Talipes equinovarus, Preaxial... |
ORPHA:1827 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
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Exaggerated startle response, Posteriorly rotated ears, Rocker bottom foot, Postaxial polydactyly... |
OMIM:617527 |
Developmental And Epileptic Encephalopathy 68 |
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Exaggerated startle response |
OMIM:618201 |
Saul-Wilson Syndrome |
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Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Micrognathia, Coxa valg... |
OMIM:618150 |
Developmental And Epileptic Encephalopathy 8 |
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Exaggerated startle response |
OMIM:300607 |
Hyperekplexia 1 |
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Exaggerated startle response, Hip dislocation |
OMIM:149400 |
Hemochromatosis, Type 1 |
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Diabetes mellitus, Hypogonadotropic hypogonadism, Azoospermia, Impotence, Testicular atrophy, Ame... |
OMIM:235200 |
Metachromatic Leukodystrophy, Adult Form |
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Decreased nerve conduction velocity, Optic atrophy, Reduced visual acuity, Seizure, Bilateral sen... |
ORPHA:309271 |
Tay-Sachs Disease |
|
Exaggerated startle response, Quadriceps muscle atrophy, Tremor, Precocious puberty, Optic atroph... |
ORPHA:845 |
Cockayne Syndrome A |
|
Hip contracture, Abnormal pinna morphology, Abnormal auditory evoked potentials, Tremor, Cryptorc... |
OMIM:216400 |
Insulin-Like Growth Factor I Deficiency |
|
Decreased serum insulin-like growth factor 1, Hyperactivity, Elevated circulating growth hormone ... |
OMIM:608747 |
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1 |
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Visual loss, Nonarteritic anterior ischemic optic neuropathy, Seizure, Abnormality of visual evok... |
OMIM:125310 |
Acrorenal-Mandibular Syndrome |
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Hypoplasia of the ulna, Absent nipple, Posteriorly rotated ears, Toe syndactyly, Hypoplastic scap... |
OMIM:200980 |
Campomelic Dysplasia |
|
11 pairs of ribs, Bowing of the long bones, Small abnormally formed scapulae, Micrognathia, Male ... |
ORPHA:140 |
Usher Syndrome Type 2 |
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Myopia, Scotoma, Visual loss, Sensorineural hearing impairment, Abnormality of the inner ear, Nyc... |
ORPHA:231178 |
Osteofibrous Dysplasia, Susceptibility To |
|
Pseudoarthrosis, Fibular hypoplasia |
OMIM:607278 |
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Exaggerated startle response, Macrotia, Optic nerve hypoplasia, EEG with generalized slow activity |
OMIM:617864 |
Eiken Syndrome |
|
Broad femoral neck, Delayed epiphyseal ossification, Flat acetabular roof, Fibular hypoplasia, Fl... |
OMIM:600002 |
Hyperekplexia 2 |
|
Exaggerated startle response |
OMIM:614619 |
Cockayne Syndrome B |
|
Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased nerve conduction veloci... |
OMIM:133540 |
Familial Gestational Hyperthyroidism |
|
Hyperactivity, Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulatin... |
ORPHA:99819 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Small scrotum, Aplasia/hypoplasia of the extremities, Femoral bowing, Anteriorly displaced genita... |
OMIM:276820 |
Cousin Syndrome |
|
Micrognathia, Ambiguous genitalia, female, Prominent protruding coccyx, Ambiguous genitalia, male... |
OMIM:260660 |
Hyperekplexia 3 |
|
Exaggerated startle response |
OMIM:614618 |
Stiff-Person Syndrome |
|
Exaggerated startle response, Diabetes mellitus, Opisthotonus |
OMIM:184850 |
Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas... |
ORPHA:3144 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Short humerus, Exaggerated startle response, Short femur, Tapered finger, Dysphagia, EEG with gen... |
OMIM:618367 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Hyperactivity, Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulatin... |
ORPHA:424 |
Distal Duplication 17Q |
|
Low-set, posteriorly rotated ears, Hallux valgus, Hyperactivity, Arachnodactyly, Rhizomelia, Over... |
ORPHA:3379 |
Fibrochondrogenesis 1 |
|
Hypoplastic scapulae, Abnormal pinna morphology, Rhizomelia, Dumbbell-shaped long bone, Broad lon... |
OMIM:228520 |
Hydrolethalus Syndrome 1 |
|
Hypospadias, Abnormal pinna morphology, Bifid uterus, Micrognathia, Preaxial hand polydactyly, Po... |
OMIM:236680 |
Early Infantile Epileptic Encephalopathy |
|
Hyperactivity, Tremor, Precocious puberty, EEG with burst suppression, Hypsarrhythmia, Choreoathe... |
ORPHA:1934 |
Occipital Horn Syndrome |
|
Pes planus, Brachydactyly, Down-sloping shoulders, Aplastic clavicle, Aplasia/hypoplasia of the h... |
ORPHA:198 |
Asparagine Synthetase Deficiency |
|
Exaggerated startle response, Optic nerve hypoplasia, Long foot, Micrognathia, Tremor, EEG with b... |
OMIM:615574 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Clinodactyly of the 5th finger, Small earlobe, Abnormal repetitive mannerisms, Hypospadias, Taper... |
OMIM:619522 |
Kyphomelic Dysplasia |
|
Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Micrognat... |
OMIM:211350 |
Metachromatic Leukodystrophy |
|
Decreased nerve conduction velocity, Seizure, Abnormality of visual evoked potentials, Visual imp... |
ORPHA:512 |
Sandhoff Disease |
|
Exaggerated startle response, Impotence, Orthostatic hypotension |
OMIM:268800 |
Orofaciodigital Syndrome Type 4 |
|
Micromelia, Micrognathia, Conductive hearing impairment, Aplasia/Hypoplasia of the tibia, Genu va... |
ORPHA:2753 |
Thrombocytopenia-Absent Radius Syndrome |
|
Edema of the dorsum of feet, Micrognathia, Femoral bowing, Abnormal shoulder morphology, Clinodac... |
OMIM:274000 |
Tay-Sachs Disease |
|
Exaggerated startle response |
OMIM:272800 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Abnormal metacarpophalangeal joint morphology, Diabetes mellitus, Hypogonadotropic hypogonadism, ... |
ORPHA:465508 |
Charge Syndrome |
|
Decreased response to growth hormone stimulation test, External genital hypoplasia, Micrognathia,... |
OMIM:214800 |
Mesomelia-Synostoses Syndrome |
|
Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Micrognat... |
OMIM:600383 |
Orofaciodigital Syndrome X |
|
Preaxial hand polydactyly, Coalescence of tarsal bones, Hand oligodactyly, Fibular aplasia |
OMIM:165590 |
Bone Marrow Failure Syndrome 5 |
|
Hypogonadism, Testicular atrophy |
OMIM:618165 |
Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Dystonia |
OMIM:272750 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
External ear malformation, Exaggerated startle response, Dystonia |
ORPHA:438216 |
Campomelic Dysplasia |
|
Anterior tibial bowing, Micrognathia, Delayed epiphyseal ossification, Patellar hypoplasia, Femor... |
OMIM:114290 |
Sandhoff Disease, Infantile Form |
|
Exaggerated startle response |
ORPHA:309155 |
X-Linked Intellectual Disability, Snyder Type |
|
Long toe, Hypospadias, Arachnodactyly, Asymmetry of the ears, Cryptorchidism, Cupped ear, Slender... |
ORPHA:3063 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Pancreatic fibrosis, Pancreatic cysts, Early ossification of capital femo... |
OMIM:208500 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Testicular atrophy |
OMIM:613987 |
Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Micrognathia, Short metatarsal, Femoral bowing, Tibial bowing, Conduc... |
OMIM:304120 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Calf muscle hypertrophy, Exaggerated startle response, Optic atrophy |
OMIM:253800 |
Legius Syndrome |
|
Hyperactivity, Ovarian neoplasm, Diaphyseal dysplasia, Vestibular schwannoma, Male urethral meatu... |
ORPHA:137605 |
Schinzel-Giedion Syndrome |
|
Abnormality of the stapes, Epileptic spasm, Aganglionic megacolon, Hypsarrhythmia, Abnormal cochl... |
ORPHA:798 |
Ulbright-Hodes Syndrome |
|
Maternal diabetes, Micrognathia, Phocomelia, Abnormal penis morphology, Short metacarpal, Abnorma... |
ORPHA:3404 |
Norrie Disease |
|
Blindness, Sensorineural hearing impairment, Optic atrophy, Protruding ear, Abnormal cochlea morp... |
ORPHA:649 |
Steinert Myotonic Dystrophy |
|
Decreased response to growth hormone stimulation test, Oral-pharyngeal dysphagia, Non-medullary t... |
ORPHA:273 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Optic disc pallor, Exaggerated startle response, Abnormality of the endocrine system, Precocious ... |
ORPHA:438213 |
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
|
Small scrotum, Micrognathia, Talipes calcaneovalgus, Micropenis, Paroxysmal bursts of laughter, H... |
OMIM:309580 |
Kinsship Syndrome |
|
Pes planus, Micrognathia, Coxa valga, Hip dislocation, Bruxism, Fibular hypoplasia, Polydactyly, ... |
OMIM:619297 |
Osteopathia Striata With Cranial Sclerosis |
|
Paranasal sinus hypoplasia, Posteriorly rotated ears, Facial palsy, Arachnodactyly, Micrognathia,... |
OMIM:300373 |
Cranioectodermal Dysplasia 1 |
|
Broad toe, Brachydactyly, Short humerus, Rhizomelia, Broad distal phalanges of all fingers, Short... |
OMIM:218330 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Low-set, posteriorly rotated ears, Mixed hearing impairment, Brachydactyly, Hypospadias, Decrease... |
ORPHA:444077 |