| 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 |
| Deafness, Autosomal Dominant 73 |
|
Hearing impairment |
OMIM:617663 |
| Tune Deafness |
|
Hearing impairment |
OMIM:191200 |
| Deafness, Autosomal Dominant 15 |
|
Hearing impairment |
OMIM:602459 |
| Deafness, Autosomal Recessive 89 |
|
Hearing impairment |
OMIM:613916 |
| Deafness, Autosomal Dominant 74 |
|
Hearing impairment |
OMIM:618140 |
| Deafness, Autosomal Recessive 18B |
|
Hearing impairment |
OMIM:614945 |
| Deafness, Autosomal Recessive 65 |
|
Hearing impairment |
OMIM:610248 |
| Deafness, Autosomal Recessive 86 |
|
Hearing impairment |
OMIM:614617 |
| Deafness, Autosomal Dominant 4B |
|
Hearing impairment |
OMIM:614614 |
| 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 56 |
|
Hearing impairment |
OMIM:615629 |
| 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 |
|
Vestibular dysfunction, Hearing impairment |
OMIM:612645 |
| Deafness, Autosomal Recessive 84A |
|
Vestibular dysfunction, Hearing impairment |
OMIM:613391 |
| Deafness, Autosomal Dominant 65 |
|
Vestibular dysfunction, Progressive hearing impairment |
OMIM:616044 |
| Auditory Neuropathy, Autosomal Dominant 1 |
|
Sensorineural hearing impairment, Abnormal speech discrimination, Absence of acoustic reflex, Abn... |
OMIM:609129 |
| Deafness, Autosomal Recessive 25 |
|
Hearing impairment, Progressive sensorineural hearing impairment |
OMIM:613285 |
| Deafness, Autosomal Recessive 9 |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Absence of acoustic reflex |
OMIM:601071 |
| Deafness, Autosomal Recessive 30 |
|
Progressive hearing impairment, Progressive sensorineural 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 |
| Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment, Vestibular dysf... |
OMIM:616515 |
| Deafness, Autosomal Recessive 84B |
|
Sensorineural hearing impairment, Vestibular hypofunction |
OMIM:614944 |
| Deafness, Autosomal Dominant 81 |
|
Sensorineural hearing impairment, Vestibular dysfunction |
OMIM:619500 |
| Deafness, Autosomal Recessive 110 |
|
Sensorineural hearing impairment, Vestibular dysfunction |
OMIM:618094 |
| Deafness, Autosomal Recessive 7 |
|
Sensorineural hearing impairment, Vestibular dysfunction |
OMIM:600974 |
| Deafness, Autosomal Recessive 1A |
|
Sensorineural hearing impairment, Vestibular dysfunction |
OMIM:220290 |
| Deafness, Autosomal Dominant 71 |
|
Sensorineural hearing impairment, Vestibular dysfunction |
OMIM:617605 |
| Deafness, Autosomal Dominant 20 |
|
Bilateral sensorineural hearing impairment, Progressive sensorineural hearing impairment |
OMIM:604717 |
| Deafness, Autosomal Dominant 6 |
|
Low-frequency sensorineural hearing impairment, Progressive sensorineural hearing impairment |
OMIM:600965 |
| Deafness, Autosomal Recessive 77 |
|
Bilateral sensorineural hearing impairment |
OMIM:613079 |
| Deafness, Autosomal Dominant 3B |
|
Adult onset sensorineural hearing impairment |
OMIM:612643 |
| Deafness, Autosomal Recessive 63 |
|
Congenital sensorineural hearing impairment |
OMIM:611451 |
| Deafness, Autosomal Recessive 101 |
|
Bilateral sensorineural hearing impairment |
OMIM:615837 |
| 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 |
| Deafness, Autosomal Recessive 15 |
|
Sensorineural hearing impairment, Prelingual sensorineural hearing impairment |
OMIM:601869 |
| Deafness, Autosomal Recessive 79 |
|
Sensorineural hearing impairment, Progressive sensorineural hearing impairment |
OMIM:613307 |
| Deafness, Autosomal Dominant 22 |
|
Sensorineural hearing impairment, Progressive sensorineural hearing impairment |
OMIM:606346 |
| Deafness, Sensorineural, Autosomal-Mitochondrial Type |
|
Sensorineural hearing impairment, Progressive sensorineural hearing impairment |
OMIM:221745 |
| Deafness, Autosomal Recessive 67 |
|
Sensorineural hearing impairment, Bilateral sensorineural hearing impairment |
OMIM:610265 |
| 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, Mental Retardation, 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 Dominant 3A |
|
Sensorineural hearing impairment |
OMIM:601544 |
| Deafness, Autosomal Dominant 12 |
|
Sensorineural hearing impairment |
OMIM:601543 |
| Deafness, Autosomal Recessive 16 |
|
Sensorineural hearing impairment |
OMIM:603720 |
| 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 Recessive 51 |
|
Sensorineural hearing impairment |
OMIM:609941 |
| Deafness, Autosomal Dominant 25 |
|
Sensorineural hearing impairment |
OMIM:605583 |
| Deafness, X-Linked 1 |
|
Sensorineural hearing impairment |
OMIM:304500 |
| Deafness, Autosomal Dominant 9 |
|
Postlingual sensorineural hearing impairment, Tinnitus, Cochlear degeneration, Vertigo, Abnormali... |
OMIM:601369 |
| Spinocerebellar Ataxia, Autosomal Recessive 3 |
|
Hearing impairment, Cochlear degeneration, Ataxia |
OMIM:271250 |
| Opticocochleodentate Degeneration |
|
Optic atrophy, Hearing impairment, Cochlear degeneration, Spastic tetraplegia |
OMIM:258700 |
| Cochleosaccular Degeneration-Cataract Syndrome |
|
Ataxia, Cochlear degeneration, Progressive sensorineural hearing impairment |
ORPHA:3233 |
| Deafness, X-Linked 6 |
|
Incomplete partition of the cochlea, Bilateral sensorineural hearing impairment |
OMIM:300914 |
| Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Distal sensory impairment, Abnormal auditory evoked po... |
OMIM:601382 |
| Ravine Syndrome |
|
Ataxia, Spasticity, Abnormal auditory evoked potentials |
ORPHA:99852 |
| Meniere Disease |
|
Tinnitus, Vertigo, Hearing impairment |
OMIM:156000 |
| Autosomal Recessive Spastic Paraplegia Type 44 |
|
Sensorineural hearing impairment, Ataxia, Abnormal motor evoked potentials, Lower limb spasticity... |
ORPHA:320401 |
| Deafness, Autosomal Dominant 41 |
|
Tinnitus, Hearing impairment, Progressive sensorineural hearing impairment |
OMIM:608224 |
| Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction |
|
Ataxia, Slowed slurred speech, Cochlear degeneration, Progressive sensorineural hearing impairment |
OMIM:172500 |
| Deafness, Autosomal Dominant 2A |
|
Tinnitus, Hearing impairment |
OMIM:600101 |
| Deafness, Autosomal Dominant 58 |
|
Tinnitus, Hearing impairment |
OMIM:615654 |
| Deafness, Autosomal Dominant 50 |
|
Sensorineural hearing impairment, Tinnitus, Progressive hearing impairment, Progressive sensorine... |
OMIM:613074 |
| Charcot-Marie-Tooth Disease, Recessive Intermediate B |
|
Vestibular schwannoma, Decreased compound muscle action potential amplitude |
OMIM:613641 |
| Optic Atrophy 8 |
|
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... |
OMIM:616648 |
| Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome |
|
Progressive cerebellar ataxia, Impaired vibration sensation in the lower limbs, Head tremor, Spas... |
ORPHA:95433 |
| Non-Syndromic Genetic Deafness |
|
Postlingual sensorineural hearing impairment, Conductive hearing impairment, High-frequency heari... |
ORPHA:87884 |
| Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Ataxia, Optic atrophy, Spasticity, Abnormal auditory evoked potentials, Progressive sensorineural... |
OMIM:125250 |
| Charcot-Marie-Tooth Disease, Type 4D |
|
Hearing impairment, Distal sensory impairment, Decreased nerve conduction velocity, Abnormal audi... |
OMIM:601455 |
| Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, EEG abnormality, Choreoath... |
OMIM:617519 |
| Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased number of large peripheral myelinated nerve fibers, Axonal degeneration, Decreased moto... |
OMIM:601596 |
| Mohr-Tranebjaerg Syndrome |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Postlingual sensorineural ... |
ORPHA:52368 |
| Chromosome Xq21 Deletion Syndrome |
|
Conductive hearing impairment, Incomplete partition of the cochlea, Hearing impairment, Progressi... |
OMIM:303110 |
| Usher Syndrome Type 3 |
|
Sensorineural hearing impairment, Vestibular hypofunction, Abnormal cochlea morphology, Ataxia |
ORPHA:231183 |
| Usher Syndrome Type 1 |
|
Sensorineural hearing impairment, Vestibular hypofunction, Abnormal cochlea morphology, Ataxia |
ORPHA:231169 |
| Arnold-Chiari Malformation Type I |
|
Cranial nerve compression, Abnormality of the eleventh cranial nerve, Abnormality of the twelfth ... |
ORPHA:268882 |
| Pendred Syndrome |
|
Vestibular dysfunction, Congenital sensorineural hearing impairment, Cochlear malformation |
OMIM:274600 |
| Deafness, Autosomal Dominant 64 |
|
Tinnitus, Sensorineural hearing impairment |
OMIM:614152 |
| Deafness, Autosomal Dominant 67 |
|
Tinnitus, Sensorineural hearing impairment |
OMIM:616340 |
| Deafness, Autosomal Dominant 36 |
|
Tinnitus, Sensorineural hearing impairment |
OMIM:606705 |
| Deafness, Y-Linked 1 |
|
Tinnitus, Sensorineural hearing impairment |
OMIM:400043 |
| Deafness, Autosomal Dominant 43 |
|
Tinnitus, Sensorineural hearing impairment |
OMIM:608394 |
| Deafness, Autosomal Dominant 33 |
|
Tinnitus, Sensorineural hearing impairment |
OMIM:614211 |
| Deafness, Autosomal Dominant 72 |
|
Sensorineural hearing impairment, Tinnitus |
OMIM:617606 |
| Deafness, Autosomal Dominant 82 |
|
Sensorineural hearing impairment, Tinnitus |
OMIM:619804 |
| Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Ataxia, Temporal optic dis... |
ORPHA:1215 |
| Deafness, Autosomal Dominant 16 |
|
Tinnitus, Adult onset sensorineural hearing impairment |
OMIM:603964 |
| Late-Infantile/Juvenile Krabbe Disease |
|
EEG with persistent abnormal rhythmic activity, Hemiplegia, Ataxia, Acroparesthesia, Upper motor ... |
ORPHA:206443 |
| Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
|
Sensorineural hearing impairment, Incomplete partition of the cochlea type II, Enlarged vestibula... |
OMIM:600791 |
| Abcd Syndrome |
|
Total intestinal aganglionosis, Hearing impairment, Aganglionic megacolon, Abnormal auditory evok... |
OMIM:600501 |
| Adult Krabbe Disease |
|
Hemiplegia, Ataxia, EEG abnormality, Acroparesthesia, Clumsiness, Hoffmann sign, Babinski sign, T... |
ORPHA:206448 |
| Developmental And Epileptic Encephalopathy 58 |
|
Optic atrophy, Spastic diplegia, Motor stereotypy, Hypsarrhythmia |
OMIM:617830 |
| Fraxe Intellectual Disability |
|
Prominent ear helix, Clumsiness, Recurrent hand flapping, Stereotypical body rocking |
ORPHA:100973 |
| Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia |
|
Sensorineural hearing impairment, Unilateral vestibular schwannoma |
OMIM:603641 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Ataxia, Orthostatic hypotension, Babinski sign, Autonomic bladder dysfunction, Tremor, Impaired d... |
ORPHA:99027 |
| Branchiootic Syndrome 1 |
|
Sensorineural hearing impairment, Low-set ears, Cochlear malformation, Microtia, Dilatated intern... |
OMIM:602588 |
| Otosclerosis 7 |
|
Otosclerosis, Conductive hearing impairment, Progressive hearing impairment, Abnormality of the a... |
OMIM:611572 |
| Deafness, Autosomal Dominant 77 |
|
Sensorineural hearing impairment, Tinnitus, Morphological abnormality of the inner ear |
OMIM:618915 |
| Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome |
|
Hyperkinetic movements, Stereotypical hand wringing, Macrotia |
ORPHA:397933 |
| Chromosome 3Q29 Deletion Syndrome |
|
Motor stereotypy, Gait ataxia, Macrotia, Low-set ears, Posteriorly rotated ears |
OMIM:609425 |
| Charcot-Marie-Tooth Disease Type 1F |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Impaired proprioception, D... |
ORPHA:101085 |
| Deafness-Hypogonadism Syndrome |
|
Conductive hearing impairment, Stapes ankylosis, Abnormality of the middle ear ossicles, Abnormal... |
ORPHA:90646 |
| Benign Paroxysmal Torticollis Of Infancy |
|
Torticollis, Vertigo, Ataxia, Abnormal head movements |
ORPHA:71518 |
| Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Large fleshy ears, Hypertonia, Ataxia, Motor stereotypy, Overfolded helix, Myoclonus, Tremor, Gai... |
OMIM:619092 |
| Vestibulocochlear Dysfunction, Progressive |
|
Tinnitus, Progressive hearing impairment, Vestibular areflexia |
OMIM:193005 |
| Deafness, Autosomal Recessive 118, With Cochlear Aplasia |
|
Vestibular dysfunction, Congenital sensorineural hearing impairment, Cochlear aplasia |
OMIM:619553 |
| Dentici-Novelli Neurodevelopmental Syndrome |
|
Motor stereotypy, Hypertonia, Hypsarrhythmia, Macrotia, Simplified gyral pattern, Hearing impairment |
OMIM:619877 |
| Autosomal Dominant Spastic Ataxia Type 1 |
|
Hypertonia, Limb ataxia, Impaired vibration sensation in the lower limbs, Babinski sign, Jerky he... |
ORPHA:251282 |
| Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Motor stereotypy, Optic atrophy, Tremor, Spastic tetraparesis, Simplified gyral pattern |
OMIM:619470 |
| Acrocraniofacial Dysostosis |
|
Sensorineural hearing impairment, Conductive hearing impairment, Abnormality of the outer ear, Ab... |
OMIM:201050 |
| Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Motor stereotypy, Ataxia, Abnormality of neuronal migration |
OMIM:618709 |
| Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Motor stereotypy, EEG abnormality, Tremor, Spasticity, Low-set ears |
OMIM:618718 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:109120 |
| Pendred Syndrome |
|
Sensorineural hearing impairment, Ataxia, Enlarged vestibular aqueduct, Vertigo, Hypoplasia of th... |
ORPHA:705 |
| Autism, Susceptibility To, X-Linked 3 |
|
Motor stereotypy, EEG abnormality |
OMIM:300496 |
| Autism, Susceptibility To, 8 |
|
Motor stereotypy, EEG abnormality |
OMIM:607373 |
| Autism, Susceptibility To, X-Linked 1 |
|
Motor stereotypy, EEG abnormality |
OMIM:300425 |
| Autism |
|
Motor stereotypy, EEG abnormality |
OMIM:209850 |
| Chromosome 15Q11-Q13 Duplication Syndrome |
|
Motor stereotypy, EEG abnormality |
OMIM:608636 |
| Intellectual Developmental Disorder With Autism And Speech Delay |
|
Motor stereotypy, Pachygyria |
OMIM:606053 |
| Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Absent brainstem auditory responses, Spastic tetraplegia, Head titubation, Vestibular areflexia |
ORPHA:3240 |
| Autosomal Recessive Non-Syndromic Intellectual Disability |
|
Motor stereotypy, EEG with focal epileptiform discharges, EEG with generalized epileptiform disch... |
ORPHA:88616 |
| Leber Congenital Amaurosis 1 |
|
Sensorineural hearing impairment, Eye poking, Optic disc drusen |
OMIM:204000 |
| Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Sensorineural hearing impairment, Ataxia, Tetraparesis, Optic disc pallor, Abnormal auditory evok... |
OMIM:619260 |
| Episodic Ataxia Type 4 |
|
Ataxia, Incoordination, Frequent falls, Abnormal head movements, Vertigo |
ORPHA:79136 |
| Otosclerosis 8 |
|
Otosclerosis, Hearing impairment |
OMIM:612096 |
| Otosclerosis 3 |
|
Otosclerosis, Hearing impairment |
OMIM:608244 |
| Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Motor stereotypy, Anteverted ears, Macrotia |
OMIM:615541 |
| Fragile X Syndrome |
|
Periventricular heterotopia, Recurrent hand flapping, Abnormal head movements, Macrotia |
OMIM:300624 |
| Acute Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Hypertonia, Cerebral palsy, Abnormal auditory evoked potentials |
ORPHA:529799 |
| Chronic Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Hypertonia, Cerebral palsy, Abnormal auditory evoked potentials |
ORPHA:529808 |
| Superficial Siderosis |
|
Dysgyria, Abnormality of the brachial nerve plexus, Vertigo, Abnormality of the vestibulocochlear... |
ORPHA:247245 |
| Pontocerebellar Hypoplasia, Type 11 |
|
Motor stereotypy, Ataxia, Limb ataxia, Poor coordination, Spasticity, Macrotia |
OMIM:617695 |
| Deafness, Autosomal Recessive 36, With Or Without Vestibular Involvement |
|
Sensorineural hearing impairment, Vestibular areflexia |
OMIM:609006 |
| Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
|
Motor stereotypy, Ataxia, EEG abnormality, Poor coordination, Chorea, Paroxysmal dyskinesia |
OMIM:619150 |
| Deafness, Autosomal Dominant 80 |
|
Dilated vestibule of the inner ear, Congenital sensorineural hearing impairment, Morphological ab... |
OMIM:619274 |
| Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Hypoplasia of the semicirc... |
OMIM:609136 |
| Infantile Krabbe Disease |
|
Decreased nerve conduction velocity, Opisthotonus, Ankle clonus, Decerebrate rigidity, Spastic di... |
ORPHA:206436 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Motor stereotypy, Tremor, Ataxia |
OMIM:617862 |
| Jeavons Syndrome |
|
EEG with focal spikes, EEG with photoparoxysmal response, EEG with hyperventilation-induced epile... |
ORPHA:139431 |
| Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Large earlobe, Prominent ear helix, Motor stereotypy, Myoclonus, Hypsarrhythmia, Multifocal epile... |
ORPHA:411986 |
| Bor Syndrome |
|
Abnormality of the middle ear ossicles, Stenosis of the external auditory canal, Facial palsy, Ex... |
ORPHA:107 |
| Huntington Disease-Like 1 |
|
EEG abnormality, Clumsiness, Poor fine motor coordination, Dysmetria, Bradykinesia, Simultanaprax... |
ORPHA:157941 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 2 |
|
Motor stereotypy, Hypertonia, Spastic tetraplegia, Polymicrogyria |
OMIM:615282 |
| Smith-Magenis Syndrome |
|
Motor stereotypy, EEG abnormality, Impaired pain sensation, Morphological abnormality of the midd... |
OMIM:182290 |
| Snijders Blok-Campeau Syndrome |
|
Motor stereotypy, Low-set ears, Speech apraxia |
OMIM:618205 |
| Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Parkinsonism with favorable response to dopaminergic medication, Progressive extrapyramidal muscu... |
ORPHA:240103 |
| Baker-Gordon Syndrome |
|
Motor stereotypy, Ataxia, EEG abnormality, Hyperkinetic movements, Choreoathetosis, Involuntary m... |
OMIM:618218 |
| Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Sensorineural hearing impairment, Motor stereotypy, Protruding ear, Tremor, Low-set ears |
OMIM:618342 |
| Intellectual Developmental Disorder, Autosomal Dominant 7 |
|
Motor stereotypy, Abnormal pinna morphology, Ataxia, Stereotypical hand wringing, Macrotia, Incoo... |
OMIM:614104 |
| Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Motor stereotypy, Hypertonia, Cerebral palsy, Spasticity, Repetitive compulsive behavior, Low-set... |
ORPHA:352490 |
| Xq28 (MECP2) duplication |
|
Progressive spasticity, Gait ataxia, Motor stereotypy, Macrotia |
DECIPHER:45 |
| Hyperprolinemia, Type I |
|
Motor stereotypy, Ataxia, EEG abnormality |
OMIM:239500 |
| Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive |
|
Motor stereotypy, EEG abnormality, Involuntary movements, Spasticity |
OMIM:617820 |
| Primary Dystonia, Dyt13 Type |
|
Torticollis, Motor stereotypy, Action tremor, Jerky head movements, Involuntary movements, Postur... |
ORPHA:98807 |
| 4Q21 Microdeletion Syndrome |
|
Motor stereotypy, Hearing impairment, Low-set ears, Tremor |
ORPHA:238750 |
| Chorea, Childhood-Onset, With Psychomotor Retardation |
|
Involuntary movements, Abnormal head movements, Chorea |
OMIM:616939 |
| Benign Schwannoma |
|
Facial palsy, Vestibular schwannoma, Abnormality of the twelfth cranial nerve, Abnormality of per... |
ORPHA:252164 |
| Xq21 Microdeletion Syndrome |
|
Sensorineural hearing impairment, Stapes ankylosis, Conductive hearing impairment, Ataxia, Dilata... |
ORPHA:1435 |
| Brunet-Wagner Neurodevelopmental Syndrome |
|
Optic atrophy, Motor stereotypy |
OMIM:619690 |
| Christianson Syndrome |
|
Motor stereotypy, Gait ataxia, Truncal ataxia, Macrotia |
ORPHA:85278 |
| Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities |
|
Motor stereotypy |
OMIM:617787 |
| Coffin-Siris Syndrome 6 |
|
Motor stereotypy, Conductive hearing impairment, Tics, Low-set, posteriorly rotated ears |
OMIM:617808 |
| Intellectual Developmental Disorder, Autosomal Dominant 34 |
|
Motor stereotypy, Hearing impairment |
OMIM:616351 |
| Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter |
|
Motor stereotypy, Abnormal pinna morphology, Optic atrophy, Gait ataxia, Spasticity |
OMIM:617807 |
| Developmental And Epileptic Encephalopathy 30 |
|
Motor stereotypy, Hypsarrhythmia |
OMIM:616341 |
| Intellectual Developmental Disorder, X-Linked 72 |
|
Motor stereotypy |
OMIM:300271 |
| Asperger Syndrome, X-Linked, Susceptibility To, 2 |
|
Motor stereotypy |
OMIM:300497 |
| Asperger Syndrome, X-Linked, Susceptibility To, 1 |
|
Motor stereotypy |
OMIM:300494 |
| Asperger Syndrome, Susceptibility To, 1 |
|
Motor stereotypy |
OMIM:608638 |
| Asperger Syndrome, Susceptibility To, 2 |
|
Motor stereotypy |
OMIM:608631 |
| Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Sensorineural hearing impairment, Motor stereotypy, Polymicrogyria, Recurrent otitis media, Low-s... |
OMIM:617751 |
| Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Sensorineural hearing impairment, Motor stereotypy, Congenital sensorineural hearing impairment, ... |
ORPHA:500159 |
| Guanidinoacetate Methyltransferase Deficiency |
|
Ataxia, Chorea, Progressive extrapyramidal movement disorder, Athetosis, Abnormal head movements,... |
ORPHA:382 |
| Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Motor stereotypy, Low-set ears, Bilateral conductive hearing impairment, Interictal epileptiform ... |
OMIM:617802 |
| Potocki-Lupski Syndrome |
|
Motor stereotypy, Hearing impairment, EEG abnormality |
OMIM:610883 |
| Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination |
|
Motor stereotypy, Spasticity |
OMIM:617393 |
| Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Motor stereotypy, Macrotia |
OMIM:618504 |
| N-Acetylaspartate Deficiency |
|
Motor stereotypy, Truncal ataxia |
OMIM:614063 |
| X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Motor stereotypy, Hyperkinetic movements, Tremor, Macrotia, Upper limb spasticity |
ORPHA:457240 |
| Hydroxykynureninuria |
|
Motor stereotypy, Hypertonia, Congenital sensorineural hearing impairment |
ORPHA:79155 |
| Developmental And Epileptic Encephalopathy 6B |
|
Motor stereotypy, Ataxia, EEG with spike-wave complexes (>3.5 Hz), Myoclonus, Hyperkinetic moveme... |
OMIM:619317 |
| Coffin-Siris Syndrome 7 |
|
Motor stereotypy, Low-set ears, Macrotia, Recurrent otitis media, Hearing impairment, Posteriorly... |
OMIM:618027 |
| Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Motor stereotypy, Ataxia, Recurrent hand flapping, Opisthotonus, Limb hypertonia, Tongue thrustin... |
OMIM:619580 |
| Rett Syndrome, Congenital Variant |
|
Motor stereotypy, Protruding ear, EEG abnormality, Tongue thrusting, Chorea, Athetosis, Spasticit... |
OMIM:613454 |
| Cockayne Syndrome Type 1 |
|
Absent brainstem auditory responses, Ataxia, Optic atrophy, Tremor, Macrotia, Abnormality of peri... |
ORPHA:90321 |
| Smith-Magenis syndrome |
|
Motor stereotypy |
DECIPHER:8 |
| D-Glyceric Aciduria |
|
Sensorineural hearing impairment, Opisthotonus, Optic nerve hypoplasia, Myoclonus, Tongue thrusti... |
OMIM:220120 |
| Neurofibromatosis, Type Ii |
|
Peripheral Schwannoma, Bilateral vestibular schwannoma, Tinnitus, Occasional neurofibromas, Unila... |
OMIM:101000 |
| Usher Syndrome, Type Iiia |
|
Sensorineural hearing impairment, Vestibular dysfunction |
OMIM:276902 |
| Developmental And Epileptic Encephalopathy 107 |
|
Motor stereotypy |
OMIM:620033 |
| Intellectual Developmental Disorder, Autosomal Recessive 58 |
|
Motor stereotypy, Spastic diplegia, Choreoathetosis |
OMIM:617270 |
| Arthrogryposis, Distal, Type 2A |
|
Hearing impairment, Abnormal auditory evoked potentials |
OMIM:193700 |
| Foxg1 Syndrome |
|
Motor stereotypy, Myoclonus, Hyperkinetic movements, Stereotypical hand wringing, Choreoathetosis... |
ORPHA:561854 |
| Deafness, Unilateral |
|
Unilateral deafness |
OMIM:125000 |
| Megalocornea-Intellectual Disability Syndrome |
|
Sensorineural hearing impairment, Motor stereotypy, Protruding ear, EEG abnormality, Ataxia |
ORPHA:2479 |
| 22Q11.2 Duplication Syndrome |
|
Motor stereotypy, Hearing impairment, Anterior creases of earlobe |
ORPHA:1727 |
| Cerebrotendinous Xanthomatosis |
|
Paraparesis, Optic neuropathy, Ataxia, Abnormal motor evoked potentials, Decreased nerve conducti... |
ORPHA:909 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Motor stereotypy, Ataxia, Pain insensitivity, Rigidity, Chorea, Progressive spasticity, Repetitiv... |
OMIM:300260 |
| Mogs-Cdg |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Hirsutism, Hepatomegaly, F... |
ORPHA:79330 |
| Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Sensorineural hearing impairment, Torticollis, Motor stereotypy, Abnormal autonomic nervous syste... |
ORPHA:300570 |
| Radio-Tartaglia Syndrome |
|
Large earlobe, Low-set ears, Conductive hearing impairment, Ataxia, Motor stereotypy, Gray matter... |
OMIM:619312 |
| Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features |
|
Motor stereotypy, Gait ataxia, Impaired pain sensation, Incoordination, Low-set ears |
OMIM:616579 |
| Proximal 16P11.2 Microdeletion Syndrome |
|
Sensorineural hearing impairment, Conductive hearing impairment, Motor stereotypy, Speech apraxia... |
ORPHA:261197 |
| Trisomy 10P |
|
EEG with focal spikes, Abnormality of the ear, EEG with burst suppression, Low voltage EEG, Abnor... |
ORPHA:171929 |
| Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response, EEG with temporal focal spikes |
ORPHA:163985 |
| Cri-Du-Chat Syndrome |
|
Motor stereotypy, Hypertonia, Abnormal pinna morphology, Stenosis of the external auditory canal,... |
OMIM:123450 |
| Juvenile Neuronal Ceroid Lipofuscinosis |
|
Motor stereotypy, Clumsiness, Poor fine motor coordination, Parkinsonism, Myoclonic spasms, Optic... |
ORPHA:79264 |
| Autism, Susceptibility To, X-Linked 2 |
|
Motor stereotypy, EEG abnormality |
OMIM:300495 |
| Alazami Syndrome |
|
Motor stereotypy, Low-set ears, Stereotypical hand wringing |
ORPHA:319671 |
| Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities |
|
Facial diplegia, Motor stereotypy, Perisylvian polymicrogyria, Dysmetria, Babinski sign, Truncal ... |
OMIM:619121 |
| Ogden Syndrome |
|
Torticollis, Hypertonia, Abnormal head movements, Macrotia, Low-set ears |
ORPHA:276432 |
| Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Motor stereotypy, Macrotia |
ORPHA:391307 |
| Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Sensorineural hearing impairment, Low-set ears, Asymmetry of the ears, Motor stereotypy |
OMIM:617796 |
| New-Onset Refractory Status Epilepticus |
|
EEG with spike-wave complexes, EEG with generalized epileptiform discharges, EEG with frontal epi... |
ORPHA:363558 |
| Macrocephaly-Developmental Delay Syndrome |
|
Abnormal speech discrimination, Motor stereotypy, EEG with generalized slow activity |
ORPHA:397612 |
| Dilated Cardiomyopathy With Ataxia |
|
Ataxia, Action tremor, Optic atrophy, Repetitive compulsive behavior, Lower limb spasticity, Bila... |
ORPHA:66634 |
| Huntington Disease-Like 3 |
|
Extrapyramidal muscular rigidity, Extrapyramidal dyskinesia, Abnormal pyramidal sign, Chorea, Spa... |
ORPHA:157946 |
| Chromosome 5P13 Duplication Syndrome |
|
Motor stereotypy, Low-set ears |
OMIM:613174 |
| Inverted Duplicated Chromosome 15 Syndrome |
|
Motor stereotypy, Low-set, posteriorly rotated ears |
ORPHA:3306 |
| 3P25.3 Microdeletion Syndrome |
|
Sensorineural hearing impairment, Abnormality of the outer ear, Ataxia, Motor stereotypy |
ORPHA:435638 |
| Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Motor stereotypy, Speech apraxia |
OMIM:613670 |
| Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Abnormal antihelix morphology, Protruding ear, Motor stereotypy |
ORPHA:261144 |
| Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Sensorineural hearing impairment, Motor stereotypy, EEG abnormality, EEG with frontal sharp slow ... |
ORPHA:457351 |
| Ritscher-Schinzel Syndrome 4 |
|
Motor stereotypy, Ataxia, Chorea, Athetosis, Macrotia |
OMIM:619435 |
| Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Motor stereotypy, Hypertonia, Cupped ear, Cerebral palsy |
OMIM:618914 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
|
Motor stereotypy, Gait ataxia, Spasticity, Macrotia |
OMIM:300486 |
| Neurofibromatosis, Type Iii, Mixed Central And Peripheral |
|
Bilateral vestibular schwannoma, Paraspinal neurofibromas, Palmar neurofibromas |
OMIM:162260 |
| Lamb-Shaffer Syndrome |
|
Optic atrophy, Upper motor neuron dysfunction, Ataxia, Motor stereotypy |
ORPHA:530983 |
| Severe Intellectual Disability And Progressive Spastic Paraplegia |
|
Motor stereotypy, Babinski sign, Spastic dysarthria, Progressive spastic paraplegia, Spasticity |
ORPHA:280763 |
| Kohlschutter-Tonz Syndrome-Like |
|
Motor stereotypy, Ataxia, EEG abnormality, EEG with focal spike waves, Upper limb spasticity, Myo... |
OMIM:619229 |
| Kleefstra Syndrome 1 |
|
Motor stereotypy, Hearing impairment, Abnormal pinna morphology |
OMIM:610253 |
| Behavioral Variant Of Frontotemporal Dementia |
|
Motor stereotypy, EEG with continuous slow activity, Fasciculations, Upper motor neuron dysfuncti... |
ORPHA:275864 |
| Transketolase Deficiency |
|
Motor stereotypy, Hearing impairment |
ORPHA:488618 |
| Smith-Magenis Syndrome |
|
Motor stereotypy, Conductive hearing impairment, EEG abnormality, Chronic otitis media, Impaired ... |
ORPHA:819 |
| Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Motor stereotypy, Ataxia, Bradykinesia, Resting tremor, Intention tremor, Myoclonus, Parkinsonism... |
OMIM:619725 |
| Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Motor stereotypy, Stereotypical hand wringing, Chorea, Gait ataxia, Spasticity |
OMIM:618917 |
| Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
Motor stereotypy, Amyotrophic lateral sclerosis, Babinski sign, Spasticity |
OMIM:612069 |
| Late Infantile Neuronal Ceroid Lipofuscinosis |
|
EEG with photoparoxysmal response, Motor stereotypy, Ataxia, Cortical myoclonus, EEG with spike-w... |
ORPHA:168491 |
| Intellectual Developmental Disorder, X-Linked 98 |
|
Motor stereotypy, Ataxia, Recurrent hand flapping, Stereotypical body rocking, Stereotypical hand... |
OMIM:300912 |
| Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Motor stereotypy, Pain insensitivity, Overfolded helix, Tremor, Macrotia |
OMIM:617061 |
| Cockayne Syndrome B |
|
Sensorineural hearing impairment, Abnormal pinna morphology, Ataxia, Decreased nerve conduction v... |
OMIM:133540 |
| Cockayne Syndrome A |
|
Sensorineural hearing impairment, Abnormal pinna morphology, Ataxia, Decreased nerve conduction v... |
OMIM:216400 |
| 48,Xxyy Syndrome |
|
Motor stereotypy, Tremor, Ataxia, Chronic otitis media |
ORPHA:10 |
| 5Q14.3 Microdeletion Syndrome |
|
Motor stereotypy, Optic nerve hypoplasia |
ORPHA:228384 |
| Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Motor stereotypy, Ataxia, Continuous spike and waves during slow sleep, Head tremor, EEG with occ... |
OMIM:619428 |
| Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Motor stereotypy, Ataxia, Cataplexy, Optic atrophy, Progressive spasticity, Spasticity, Macrotia,... |
ORPHA:496641 |
| Congenital Disorder Of Glycosylation, Type Iia |
|
Sensorineural hearing impairment, Hypertonia, Motor stereotypy, Macrotia, Posteriorly rotated ears |
OMIM:212066 |
| Phelan-Mcdermid Syndrome |
|
Motor stereotypy, Protruding ear, Tongue thrusting, Impaired pain sensation, Macrotia, Hearing im... |
OMIM:606232 |
| Autosomal Recessive Ataxia Due To Pex10 Deficiency |
|
Progressive cerebellar ataxia, Limb ataxia, Abnormal pyramidal sign, Truncal ataxia, Progressive ... |
ORPHA:247815 |
| Pyruvate Dehydrogenase E2 Deficiency |
|
Oculomotor apraxia, Ataxia, Choreoathetosis, Jerky head movements |
OMIM:245348 |
| Mend Syndrome |
|
Low-set ears, Abnormal auditory evoked potentials, Limb hypertonia |
ORPHA:401973 |
| Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Motor stereotypy, Low-set ears, Posteriorly rotated ears |
OMIM:619293 |
| Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
| Gm1 Gangliosidosis Type 1 |
|
Hirsutism, Exaggerated startle response, Aspiration pneumonia, Increased urinary galactosylated o... |
ORPHA:79255 |
| Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Motor stereotypy, Hypertonia, Babinski sign, Prominent antihelix, Spasticity, Macrotia |
OMIM:615802 |
| Cerebral Creatine Deficiency Syndrome 1 |
|
Motor stereotypy, Hypertonia, Underfolded superior helices, Speech apraxia, Spasticity, Aganglion... |
OMIM:300352 |
| Hyperekplexia 3 |
|
Exaggerated startle response |
OMIM:614618 |
| Sandhoff Disease |
|
Hepatomegaly, Exaggerated startle response, Orthostatic hypotension, Hepatosplenomegaly, Urinary ... |
OMIM:268800 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Motor stereotypy, Low-set ears, Focal polymicrogyria |
OMIM:619103 |
| Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Motor stereotypy, Recurrent otitis media, Recurrent hand flapping, Macrotia |
ORPHA:449291 |
| White-Sutton Syndrome |
|
Sensorineural hearing impairment, Motor stereotypy, Optic nerve hypoplasia, Tics, Abnormality of ... |
OMIM:616364 |
| Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Motor stereotypy, Hypertonia, Periventricular heterotopia, Thin ear helix, Optic nerve hypoplasia... |
ORPHA:468631 |
| Helsmoortel-Van Der Aa Syndrome |
|
Motor stereotypy, Low-set, posteriorly rotated ears |
OMIM:615873 |
| Rett Syndrome |
|
Motor stereotypy, EEG abnormality, Bradykinesia, Abnormal autonomic nervous system physiology, St... |
ORPHA:778 |
| Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
|
Motor stereotypy, Hypertonia, Protruding ear, Myoclonic spasms, Hypsarrhythmia, Clonus, Low-set e... |
ORPHA:447997 |
| 2Q37 Microdeletion Syndrome |
|
Motor stereotypy, Conductive hearing impairment |
ORPHA:1001 |
| White-Sutton Syndrome |
|
Sensorineural hearing impairment, Motor stereotypy, EEG abnormality, Incoordination, Optic atroph... |
ORPHA:468678 |
| Developmental And Speech Delay Due To Sox5 Deficiency |
|
Optic atrophy, Motor stereotypy |
ORPHA:313892 |
| Rauch-Steindl Syndrome |
|
Motor stereotypy, Protruding ear, Prominent crus of helix, Attached earlobe |
OMIM:619695 |
| Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Optic atrophy, Optic disc pallor, Exaggerated startle response |
OMIM:609541 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Blepharospasm, Exaggerated startle response, Oculogyric crisis, Athetosis, Choreoath... |
OMIM:608643 |
| Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Optic atrophy, Optic disc pallor, Exaggerated startle response |
ORPHA:320406 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Motor stereotypy, Myoclonus, Babinski sign, Rigidity |
OMIM:600795 |
| Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Motor stereotypy, Low-set ears, Ataxia |
ORPHA:457279 |
| Autosomal Dominant Non-Syndromic Intellectual Disability |
|
Motor stereotypy, Chorea, Spasticity, Bilateral generalized polymicrogyria, Eyelid myoclonus |
ORPHA:178469 |
| Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked |
|
Sensorineural hearing impairment, Motor stereotypy, Microtia, Spasticity, Low-set ears, Posterior... |
OMIM:301040 |
| Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures |
|
Motor stereotypy, Spastic ataxia |
OMIM:618906 |
| Pitt-Hopkins Syndrome |
|
Motor stereotypy, Cupped ear, Gait ataxia, Incoordination, Thickened helices |
OMIM:610954 |
| Kleefstra Syndrome |
|
Motor stereotypy, Hearing impairment, Chronic otitis media, Thickened helices |
ORPHA:261494 |
| Asparagine Synthetase Deficiency |
|
Exaggerated startle response, Hypsarrhythmia, Macrotia |
OMIM:615574 |
| Intellectual Developmental Disorder, Autosomal Dominant 38 |
|
Motor stereotypy, Low-set ears, Ataxia |
OMIM:616393 |
| Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Sensorineural hearing impairment, Low-set ears, Motor stereotypy, Recurrent otitis media |
OMIM:619575 |
| 7Q11.23 Microduplication Syndrome |
|
Large earlobe, Motor stereotypy, Dysmetria, Overfolded helix, Low-set, posteriorly rotated ears, ... |
ORPHA:96121 |
| Pitt-Hopkins-Like Syndrome 1 |
|
Motor stereotypy, Ataxia, EEG abnormality, Spasticity |
OMIM:610042 |
| Ocular Motor Apraxia |
|
Oculomotor apraxia, Jerky head movements |
OMIM:257550 |
| Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Motor stereotypy, Recurrent hand flapping, Myoclonus, Cerebral palsy, Chorea |
OMIM:617600 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Low-set ears, EEG with spike-wave complexes, Jerky head movements, EEG with generalized sharp slo... |
ORPHA:369837 |
| Hypotonia, Ataxia, And Delayed Development Syndrome |
|
Motor stereotypy, Ataxia, Pain insensitivity, Dysmetria, Overfolded helix, Truncal ataxia, Small ... |
OMIM:617330 |
| Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Exaggerated startle response, Low-set, posteriorly rotated ears |
OMIM:618598 |
| Obesity, Hyperphagia, And Developmental Delay |
|
Motor stereotypy |
OMIM:613886 |
| Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Motor stereotypy, Ataxia, EEG abnormality, EEG with spike-wave complexes, EEG with focal sharp wa... |
ORPHA:522077 |
| Retinitis Pigmentosa |
|
Sensorineural hearing impairment, Conductive hearing impairment, Optic atrophy |
ORPHA:791 |
| Intellectual Developmental Disorder, Autosomal Recessive 41 |
|
Motor stereotypy |
OMIM:615637 |
| Autism, Susceptibility To, 3 |
|
Motor stereotypy, EEG abnormality |
OMIM:608049 |
| Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response |
OMIM:618201 |
| Pick Disease Of Brain |
|
Motor stereotypy |
OMIM:172700 |
| Plaa-Associated Neurodevelopmental Disorder |
|
Sensorineural hearing impairment, Hirsutism, Exaggerated startle response, Low-set, posteriorly r... |
ORPHA:521426 |
| Stiff-Person Syndrome |
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Anemia, Exaggerated startle response, Opisthotonus |
OMIM:184850 |
| Bainbridge-Ropers Syndrome |
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Motor stereotypy, Hypertonia, Recurrent hand flapping, Low-set ears, Posteriorly rotated ears |
OMIM:615485 |
| Gm2 Gangliosidosis, Ab Variant |
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Dystonia, Exaggerated startle response |
ORPHA:309246 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
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Exaggerated startle response |
OMIM:618367 |
| Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
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EEG with focal spikes, Motor stereotypy, Increased theta frequency activity in EEG, Involuntary m... |
ORPHA:98784 |
| Tay-Sachs Disease |
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Exaggerated startle response, Laryngeal dystonia, Aspiration pneumonia, Optic atrophy, Tremor, He... |
ORPHA:845 |
| Hyperekplexia 2 |
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Exaggerated startle response |
OMIM:614619 |
| Norrie Disease |
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Sensorineural hearing impairment, Hypertonia, Protruding ear, EEG abnormality, Abnormal helix mor... |
ORPHA:649 |
| Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly |
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Motor stereotypy, Pain insensitivity |
OMIM:618825 |
| X-Linked Intellectual Disability, Cantagrel Type |
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Motor stereotypy, Tetraparesis |
ORPHA:85277 |
| Legius Syndrome |
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Hearing impairment, Vestibular schwannoma |
ORPHA:137605 |
| Bilateral Generalized Polymicrogyria |
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Motor stereotypy, Spasticity, Spastic tetraplegia, Paroxysmal dyskinesia, Eyelid myoclonus |
ORPHA:208447 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
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Ataxia, Isometric tremor, Otitis media, Tics, Spasticity, Hypsarrhythmia, Hypertonia, Intention t... |
OMIM:619475 |
| Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
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Motor stereotypy, Stereotypical body rocking, Abnormal Eustachian tube morphology, Gait ataxia, R... |
ORPHA:513456 |
| Glycine Encephalopathy With Normal Serum Glycine |
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Optic atrophy, Low-set ears, Long eyelashes, Exaggerated startle response |
OMIM:617301 |
| 2Q23.1 Microdeletion Syndrome |
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Motor stereotypy, Ataxia |
ORPHA:228402 |
| Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
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Motor stereotypy, Paraplegia, Ataxia |
ORPHA:927 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
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Motor stereotypy, EEG with parietal focal spikes, EEG with occipital focal spikes, Recurrent otit... |
OMIM:301066 |
| Gm2-Gangliosidosis, Ab Variant |
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Dystonia, Exaggerated startle response |
OMIM:272750 |
| Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
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Sensorineural hearing impairment, Motor stereotypy, Optic atrophy, Macrotia, Low-set ears, Poster... |
OMIM:619512 |
| Mucopolysaccharidosis Type 2 |
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Sensorineural hearing impairment, Otosclerosis, Conductive hearing impairment, Motor stereotypy, ... |
ORPHA:580 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
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Motor stereotypy, Hypertonia, Ataxia, Recurrent hand flapping |
OMIM:300986 |
| Galloway-Mowat Syndrome 6 |
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Motor stereotypy |
OMIM:618347 |
| Hyperekplexia 1 |
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Exaggerated startle response |
OMIM:149400 |
| Tay-Sachs Disease |
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Exaggerated startle response |
OMIM:272800 |
| Stiff Person Spectrum Disorder |
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Exaggerated startle response |
ORPHA:3198 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
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Motor stereotypy, Low-set ears, Protruding ear, Poor coordination, Spastic diplegia, Cupped ear, ... |
OMIM:309590 |
| Schinzel-Giedion Syndrome |
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Large earlobe, Hypertonia, Abnormal helix morphology, Infantile sensorineural hearing impairment,... |
ORPHA:798 |
| Childhood Absence Epilepsy |
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EEG with spike-wave complexes (2.5-3.5 Hz), Jerky head movements, Punding, Limb myoclonus |
ORPHA:64280 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
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Dystonia, External ear malformation, Exaggerated startle response |
ORPHA:438216 |
| Shukla-Vernon Syndrome |
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Motor stereotypy |
OMIM:301029 |
| Nmda Receptor Encephalitis |
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Motor stereotypy, Abnormal autonomic nervous system physiology, Opisthotonus, Orthostatic hypoten... |
ORPHA:217253 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
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Hirsutism, Exaggerated startle response, Optic atrophy, Low-set ears, Posteriorly rotated ears |
OMIM:617527 |
| Developmental And Epileptic Encephalopathy 100 |
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EEG with photoparoxysmal response, Motor stereotypy, Myoclonus, Chorea, Polymicrogyria, Choreoath... |
OMIM:619777 |
| Van Esch-O'Driscoll Syndrome |
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Motor stereotypy, Protruding ear, Microtia, Unilateral vocal cord paralysis, Spasticity |
OMIM:301030 |
| Kinsship Syndrome |
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Spastic tetraparesis, Low-set ears, Motor stereotypy, Myoclonus |
OMIM:619297 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
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Motor stereotypy, Optic disc pallor, Protruding ear, Abnormality of neuronal migration |
ORPHA:464311 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
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Motor stereotypy, Optic nerve hypoplasia, Facial palsy, Abnormal optic disc morphology, Hearing i... |
ORPHA:508498 |
| Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities |
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Motor stereotypy, Protruding ear, Ataxia, Poor gross motor coordination, Dysmetria, Hand tremor, ... |
OMIM:614756 |
| Wiedemann-Steiner Syndrome |
|
Motor stereotypy, Low-set ears |
ORPHA:319182 |
| Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
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Motor stereotypy, Hypertonia, EEG abnormality, Overfolded helix, Hypsarrhythmia, Spastic tetrapar... |
OMIM:301044 |
| Developmental And Epileptic Encephalopathy 2 |
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Motor stereotypy, Myoclonus, Hypsarrhythmia, EEG with generalized slow activity |
OMIM:300672 |
| Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
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Overfolded helix, Low-set ears, Motor stereotypy |
OMIM:618653 |
| Short Stature, Developmental Delay, And Congenital Heart Defects |
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Motor stereotypy |
OMIM:617044 |
| Dyrk1A-Related Intellectual Disability Syndrome |
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Motor stereotypy, Optic disc pallor, Protruding ear, Macrotia |
ORPHA:464306 |
| Coffin-Siris Syndrome 12 |
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Large earlobe, Sensorineural hearing impairment, Protruding ear, Motor stereotypy, Facial palsy, ... |
OMIM:619325 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
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