Auditory Neuropathy, Autosomal Dominant 1 |
|
Sensorineural hearing impairment, Abnormal speech discrimination, Absence of acoustic reflex, Abn... |
OMIM:609129 |
Deafness, Autosomal Recessive 9 |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Absence of acoustic reflex |
OMIM:601071 |
Deafness, X-Linked 2 |
|
Stapes ankylosis, Congenital sensorineural hearing impairment, Conductive hearing impairment, Dil... |
OMIM:304400 |
Deafness, X-Linked 6 |
|
Incomplete partition of the cochlea, Bilateral sensorineural hearing impairment |
OMIM:300914 |
Deafness, Autosomal Recessive 109 |
|
Congenital sensorineural hearing impairment, Morphological abnormality of the semicircular canal |
OMIM:618013 |
Deafness-Hypogonadism Syndrome |
|
Conductive hearing impairment, Stapes ankylosis, Abnormality of the middle ear ossicles, Abnormal... |
ORPHA:90646 |
Deafness, Conductive Stapedial, With Ear Malformation And Facial Palsy |
|
Conductive hearing impairment, External ear malformation, Facial paralysis, Abnormality of the st... |
OMIM:124490 |
Deafness-Oligodontia Syndrome |
|
Sensorineural hearing impairment, Vertigo, Abnormality of the inner ear |
ORPHA:3230 |
Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment, Vestibular dysf... |
OMIM:616515 |
Otosclerosis 7 |
|
Otosclerosis, Conductive hearing impairment, Progressive hearing impairment, Abnormality of the a... |
OMIM:611572 |
Deafness-Ear Malformation-Facial Palsy Syndrome |
|
Abnormal antihelix morphology, Conductive hearing impairment, External ear malformation, Hypoplas... |
ORPHA:3232 |
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities |
|
Abnormality of the malleus, Abnormality of the middle ear ossicles, Abnormal pinna morphology, Co... |
OMIM:128980 |
Deafness, Autosomal Dominant 77 |
|
Sensorineural hearing impairment, Tinnitus, Morphological abnormality of the inner ear |
OMIM:618915 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 6 |
|
Sensorineural hearing impairment, Hand tremor, Steppage gait |
OMIM:300905 |
Autosomal Recessive Spastic Paraplegia Type 24 |
|
Sensorineural hearing impairment, Tip-toe gait, Spastic paraplegia, Scissor gait, Spasticity, Clonus |
ORPHA:101004 |
Primary Dystonia, Dyt13 Type |
|
Torticollis, Motor stereotypy, Action tremor, Torsion dystonia, Jerky head movements, Craniofacia... |
ORPHA:98807 |
Deafness, Autosomal Recessive 13 |
|
Sensorineural hearing impairment, Hearing impairment |
OMIM:603098 |
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 |
Conductive Deafness-Malformed External Ear Syndrome |
|
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal pinna morphology, Abnor... |
ORPHA:3216 |
Deafness, Autosomal Recessive 35 |
|
Sensorineural hearing impairment, Abnormal ear morphology |
OMIM:608565 |
Otosclerosis 8 |
|
Otosclerosis, Hearing impairment |
OMIM:612096 |
Otosclerosis 3 |
|
Otosclerosis, Hearing impairment |
OMIM:608244 |
Cerebellar Ataxia And Neurosensory Deafness |
|
Sensorineural hearing impairment, Ataxia |
OMIM:212850 |
Spinocerebellar Ataxia, Autosomal Recessive 3 |
|
Hearing impairment, Cochlear degeneration |
OMIM:271250 |
Deafness, Progressive, With Stapes Fixation |
|
Stapes ankylosis, Bilateral conductive hearing impairment |
OMIM:601449 |
Progressive Deafness With Stapes Fixation |
|
Stapes ankylosis, Bilateral conductive hearing impairment |
ORPHA:3235 |
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak |
|
Periodic paralysis, Hyperkalemia, Hand tremor |
OMIM:609153 |
Chorea, Childhood-Onset, With Psychomotor Retardation |
|
Involuntary movements, Abnormal head movements, Chorea |
OMIM:616939 |
Deafness, Conductive, With Malformed External Ear |
|
Conductive hearing impairment, Abnormal pinna morphology, Low-set ears, Abnormality of the middle... |
OMIM:221300 |
Opticocochleodentate Degeneration |
|
Optic atrophy, Hearing impairment, Cochlear degeneration |
OMIM:258700 |
Cochleosaccular Degeneration-Cataract Syndrome |
|
Ataxia, Cochlear degeneration, Progressive sensorineural hearing impairment |
ORPHA:3233 |
Chromosome Xq21 Deletion Syndrome |
|
Conductive hearing impairment, Incomplete partition of the cochlea, Hearing impairment, Progressi... |
OMIM:303110 |
Deafness, Autosomal Dominant 9 |
|
Postlingual sensorineural hearing impairment, Tinnitus, Cochlear degeneration, Vertigo, Abnormali... |
OMIM:601369 |
Myoclonus, Cerebellar Ataxia, And Deafness |
|
Hearing impairment, Myoclonus, Ataxia |
OMIM:159800 |
Deafness, Autosomal Recessive 2 |
|
Sensorineural hearing impairment, Vertigo, Vestibular dysfunction |
OMIM:600060 |
Deafness, Autosomal Dominant 80 |
|
Dilated vestibule of the inner ear, Congenital sensorineural hearing impairment, Morphological ab... |
OMIM:619274 |
Multiple Synostoses Syndrome 4 |
|
Otosclerosis |
OMIM:617898 |
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities |
|
Motor stereotypy |
OMIM:617787 |
Leukoencephalopathy With Bilateral Anterior Temporal Lobe Cysts |
|
Sensorineural hearing impairment, Lower limb spasticity, Babinski sign, Clonus |
ORPHA:139444 |
Deafness, Autosomal Recessive 84B |
|
Sensorineural hearing impairment, Vestibular hypofunction |
OMIM:614944 |
Otosclerosis 1 |
|
Otosclerosis, Conductive hearing impairment |
OMIM:166800 |
Deafness, Autosomal Recessive 110 |
|
Sensorineural hearing impairment, Vestibular dysfunction |
OMIM:618094 |
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 81 |
|
Sensorineural hearing impairment, Vestibular dysfunction |
OMIM:619500 |
Deafness, Autosomal Recessive 7 |
|
Sensorineural hearing impairment, Vestibular dysfunction |
OMIM:600974 |
Autosomal Recessive Spastic Paraplegia Type 27 |
|
Sensorineural hearing impairment, Dysdiadochokinesis, Babinski sign, Spastic paraplegia, Abnormal... |
ORPHA:101007 |
Mohr-Tranebjaerg Syndrome |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Postlingual sensorineural ... |
ORPHA:52368 |
Stapes Ankylosis With Broad Thumbs And Toes |
|
Stapes ankylosis, Congenital stapes ankylosis, Conductive hearing impairment |
OMIM:184460 |
Xq21 Microdeletion Syndrome |
|
Sensorineural hearing impairment, Stapes ankylosis, Conductive hearing impairment, Ataxia, Dilata... |
ORPHA:1435 |
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 |
Deafness, Autosomal Dominant 49 |
|
Sensorineural hearing impairment, Progressive hearing impairment |
OMIM:608372 |
Deafness, Mid-Tone Neural |
|
Sensorineural hearing impairment, Progressive hearing impairment |
OMIM:124700 |
Deafness, X-Linked 4 |
|
Sensorineural hearing impairment, High-frequency hearing impairment |
OMIM:300066 |
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
|
Sensorineural hearing impairment, Incomplete partition of the cochlea type II, Enlarged vestibula... |
OMIM:600791 |
Symphalangism, Proximal, 1A |
|
Stapes ankylosis, Conductive hearing impairment |
OMIM:185800 |
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness |
|
Sensorineural hearing impairment, Optic atrophy, Ataxia |
OMIM:136600 |
Ossicular Malformations, Familial |
|
Abnormality of the middle ear ossicles, Congenital conductive hearing impairment |
OMIM:165680 |
Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction |
|
Ataxia, Slowed slurred speech, Cochlear degeneration, Progressive sensorineural hearing impairment |
OMIM:172500 |
Arthrogryposis, Distal, Type 6 |
|
Sensorineural hearing impairment |
OMIM:108200 |
Deafness, Autosomal Recessive 37 |
|
Sensorineural hearing impairment, Vestibular dysfunction |
OMIM:607821 |
Worster-Drought Syndrome |
|
Sensorineural hearing impairment, Abnormal cranial nerve morphology, Tetraplegia |
ORPHA:3465 |
Multiple Synostoses Syndrome |
|
Conductive hearing impairment |
ORPHA:3237 |
Non-Syndromic Genetic Deafness |
|
Postlingual sensorineural hearing impairment, Conductive hearing impairment, High-frequency heari... |
ORPHA:87884 |
Deafness, Autosomal Recessive 119 |
|
Sensorineural hearing impairment |
OMIM:619615 |
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 15 |
|
Sensorineural hearing impairment, Prelingual sensorineural hearing impairment |
OMIM:601869 |
Deafness, Autosomal Recessive 79 |
|
Sensorineural hearing impairment, Progressive sensorineural hearing impairment |
OMIM:613307 |
Otosclerosis 4 |
|
Otosclerosis, Mixed hearing impairment |
OMIM:611571 |
Deafness, Autosomal Recessive 67 |
|
Sensorineural hearing impairment, Bilateral sensorineural hearing impairment |
OMIM:610265 |
Spastic Paraparesis-Deafness Syndrome |
|
Sensorineural hearing impairment, Ataxia, Hemiplegia/hemiparesis, Spastic paraparesis, Gait distu... |
ORPHA:2815 |
Intellectual Developmental Disorder, Autosomal Recessive 50 |
|
Sensorineural hearing impairment |
OMIM:616460 |
Deafness, Congenital, And Adult-Onset Progressive Leukoencephalopathy |
|
Sensorineural hearing impairment, Ataxia, Abnormal pyramidal sign, Profound sensorineural hearing... |
OMIM:619196 |
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome |
|
Conductive hearing impairment |
ORPHA:2669 |
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 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 |
Deafness, Autosomal Dominant 76 |
|
Sensorineural hearing impairment |
OMIM:618787 |
Deafness, Autosomal Recessive 14 |
|
Sensorineural hearing impairment |
OMIM:603678 |
Deafness, Autosomal Recessive 27 |
|
Sensorineural hearing impairment |
OMIM:605818 |
Deafness, Autosomal Recessive 68 |
|
Sensorineural hearing impairment |
OMIM:610419 |
Deafness, Autosomal Recessive 21 |
|
Sensorineural hearing impairment |
OMIM:603629 |
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 Recessive 117 |
|
Sensorineural hearing impairment |
OMIM:619174 |
Deafness, Autosomal Recessive 22 |
|
Sensorineural hearing impairment |
OMIM:607039 |
Deafness, Autosomal Dominant 21 |
|
Sensorineural hearing impairment |
OMIM:607017 |
Deafness, Autosomal Dominant 68 |
|
Sensorineural hearing impairment |
OMIM:616707 |
Deafness, Autosomal Recessive 97 |
|
Sensorineural hearing impairment |
OMIM:616705 |
Deafness, Autosomal Recessive 42 |
|
Sensorineural hearing impairment |
OMIM:609646 |
Deafness, Autosomal Dominant 66 |
|
Sensorineural hearing impairment |
OMIM:616969 |
Deafness, Autosomal Dominant 44 |
|
Sensorineural hearing impairment |
OMIM:607453 |
Deafness, Neural, Congenital Moderate |
|
Sensorineural hearing impairment |
OMIM:221500 |
Deafness, Autosomal Dominant 84 |
|
Sensorineural hearing impairment |
OMIM:619810 |
Deafness, X-Linked 1 |
|
Sensorineural hearing impairment |
OMIM:304500 |
Deafness, Autosomal Dominant 69 |
|
Sensorineural hearing impairment |
OMIM:616697 |
Deafness, Autosomal Recessive 113 |
|
Sensorineural hearing impairment |
OMIM:618410 |
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 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 112 |
|
Sensorineural hearing impairment |
OMIM:618257 |
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 Dominant 13 |
|
Sensorineural hearing impairment |
OMIM:601868 |
Deafness, Autosomal Dominant 27 |
|
Sensorineural hearing impairment |
OMIM:612431 |
Deafness, Autosomal Recessive 98 |
|
Sensorineural hearing impairment |
OMIM:614861 |
Deafness, Autosomal Recessive 116 |
|
Sensorineural hearing impairment |
OMIM:619093 |
Deafness, Autosomal Recessive 23 |
|
Sensorineural hearing impairment |
OMIM:609533 |
Intellectual Developmental Disorder, X-Linked 46 |
|
Sensorineural hearing impairment |
OMIM:300436 |
Deafness, Autosomal Dominant 47 |
|
Sensorineural hearing impairment |
OMIM:608652 |
Deafness, Autosomal Dominant 28 |
|
Sensorineural hearing impairment |
OMIM:608641 |
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 Recessive 51 |
|
Sensorineural hearing impairment |
OMIM:609941 |
Deafness, Autosomal Dominant 25 |
|
Sensorineural hearing impairment |
OMIM:605583 |
Craniodiaphyseal Dysplasia |
|
Stenosis of the external auditory canal, Conductive hearing impairment, Optic atrophy |
ORPHA:1513 |
Deafness, Autosomal Recessive 118, With Cochlear Aplasia |
|
Vestibular dysfunction, Congenital sensorineural hearing impairment, Cochlear aplasia |
OMIM:619553 |
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 |
Ataxia, Deafness, And Cardiomyopathy |
|
Sensorineural hearing impairment, Ataxia |
OMIM:208750 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Sensorineural hearing impairment, Abnormality of somatosensory evoked potentials, Ataxia, Abnorma... |
ORPHA:320401 |
Spinocerebellar Ataxia 31 |
|
Sensorineural hearing impairment, Ataxia, Gait ataxia, Limb ataxia |
OMIM:117210 |
Osteogenesis Imperfecta, Type Iv |
|
Otosclerosis, Hearing impairment |
OMIM:166220 |
Holoprosencephaly 12 With Or Without Pancreatic Agenesis |
|
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal pinna morphology, Micro... |
OMIM:618500 |
Deafness, Autosomal Dominant 23 |
|
Sensorineural hearing impairment, Conductive hearing impairment |
OMIM:605192 |
Ravine Syndrome |
|
Atrophy/Degeneration affecting the brainstem, Ataxia, Spasticity, Abnormal auditory evoked potent... |
ORPHA:99852 |
Hyperkalemic Periodic Paralysis |
|
Periodic hyperkalemic paralysis, Hyperkalemia |
OMIM:170500 |
Pendred Syndrome |
|
Sensorineural hearing impairment, Ataxia, Enlarged vestibular aqueduct, Vertigo, Hypoplasia of th... |
ORPHA:705 |
Intellectual Developmental Disorder With Autism And Speech Delay |
|
Motor stereotypy |
OMIM:606053 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Motor stereotypy, Ataxia, Cerebral cortical atrophy, Atrophy/Degeneration affecting the brainstem... |
OMIM:617862 |
Auriculocondylar Syndrome 3 |
|
Stenosis of the external auditory canal, Bilateral conductive hearing impairment, Question mark ear |
OMIM:615706 |
Branchiogenic Deafness Syndrome |
|
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal pinna morphology, Abnor... |
ORPHA:50815 |
Autism |
|
Motor stereotypy |
OMIM:209850 |
Autism, Susceptibility To, X-Linked 3 |
|
Motor stereotypy |
OMIM:300496 |
Autism, Susceptibility To, 8 |
|
Motor stereotypy |
OMIM:607373 |
Autism, Susceptibility To, X-Linked 1 |
|
Motor stereotypy |
OMIM:300425 |
Chromosome 15Q11-Q13 Duplication Syndrome |
|
Motor stereotypy |
OMIM:608636 |
Pendred Syndrome |
|
Vestibular dysfunction, Congenital sensorineural hearing impairment, Cochlear malformation |
OMIM:274600 |
Otosclerosis 10 |
|
Otosclerosis |
OMIM:615589 |
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome |
|
Progressive cerebellar ataxia, Head tremor, Spastic dysarthria, Optic atrophy, Difficulty walking... |
ORPHA:95433 |
Autosomal Dominant Spastic Ataxia Type 1 |
|
Hypertonia, Spastic ataxia, Limb ataxia, Impaired vibration sensation in the lower limbs, Babinsk... |
ORPHA:251282 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Motor stereotypy |
OMIM:300271 |
Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Sensorineural hearing impairment, Conductive hearing impairment, Clumsiness |
OMIM:610738 |
Atresia Of External Auditory Canal And Conductive Deafness |
|
Stenosis of the external auditory canal, Conductive hearing impairment, Atresia of the external a... |
OMIM:108760 |
Osteogenesis Imperfecta, Type I |
|
Otosclerosis, Hearing impairment |
OMIM:166200 |
Infantile Osteopetrosis With Neuroaxonal Dysplasia |
|
Conductive hearing impairment |
ORPHA:85179 |
Myoclonus-Cerebellar Ataxia-Deafness Syndrome |
|
Progressive cerebellar ataxia, Intention tremor, Myoclonus, Progressive gait ataxia, Bilateral se... |
ORPHA:2589 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy |
OMIM:601382 |
Developmental And Epileptic Encephalopathy 97 |
|
Tremor, Inability to walk, Stereotypical hand wringing, Hypsarrhythmia |
OMIM:619561 |
Developmental And Epileptic Encephalopathy 58 |
|
Motor stereotypy, Inability to walk, Spastic diplegia, Optic atrophy, Hypsarrhythmia |
OMIM:617830 |
Oculopharyngodistal Myopathy 3 |
|
Sensorineural hearing impairment, Conductive hearing impairment, Ataxia, Tremor |
OMIM:619473 |
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
|
Motor stereotypy, Ataxia, EEG abnormality, Poor coordination, Chorea, Falls, Paroxysmal dyskinesi... |
OMIM:619150 |
Spinocerebellar Ataxia Type 37 |
|
Sensorineural hearing impairment, Myoclonus, Dysdiadochokinesis, Truncal ataxia, Falls, Limb dysm... |
ORPHA:363710 |
Branchiootic Syndrome 1 |
|
Sensorineural hearing impairment, Low-set ears, Cochlear malformation, Microtia, Dilatated intern... |
OMIM:602588 |
Treacher Collins Syndrome 3 |
|
Conductive hearing impairment, Abnormality of the outer ear, Microtia |
OMIM:248390 |
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive |
|
Motor stereotypy, Inability to walk, Cerebral cortical atrophy, EEG abnormality, Involuntary move... |
OMIM:617820 |
Deafness, Conductive, With Ptosis And Skeletal Anomalies |
|
Atresia of the external auditory canal, Conductive hearing impairment, Chronic otitis media |
OMIM:221320 |
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation |
|
Sensorineural hearing impairment, Broad-based gait, Clumsiness, Dysmetria, Poor coordination, Ank... |
OMIM:270500 |
Optic Atrophy 8 |
|
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... |
OMIM:616648 |
Waardenburg Syndrome, Type 2E |
|
Sensorineural hearing impairment, Dilated vestibule of the inner ear, Hypoplasia of the semicircu... |
OMIM:611584 |
Treacher Collins Syndrome 4 |
|
Conductive hearing impairment, Preauricular hair displacement |
OMIM:618939 |
Pseudohypoaldosteronism, Type Iia |
|
Periodic hyperkalemic paralysis, Hyperkalemia |
OMIM:145260 |
Branchiootic Syndrome |
|
Sensorineural hearing impairment, Conductive hearing impairment, Facial palsy, Atresia of the ext... |
ORPHA:52429 |
Cleft Velum |
|
Conductive hearing impairment, Recurrent otitis media |
ORPHA:99772 |
Spastic Paraplegia-Nephritis-Deafness Syndrome |
|
Sensorineural hearing impairment, Paraplegia, Spasticity, Gait disturbance |
ORPHA:2820 |
X-Linked Charcot-Marie-Tooth Disease Type 6 |
|
Sensorineural hearing impairment, Decreased nerve conduction velocity, Hand tremor, Difficulty wa... |
ORPHA:352675 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Ataxia, Optic atrophy, Gait disturbance, Spasticity, Abnormal auditory evoked potentials, Progres... |
OMIM:125250 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, EEG abnormality, Choreoath... |
OMIM:617519 |
Achondroplasia |
|
Conductive hearing impairment, Recurrent otitis media |
OMIM:100800 |
Symphalangism With Multiple Anomalies Of Hands And Feet |
|
Conductive hearing impairment |
ORPHA:3246 |
Smith-Magenis syndrome |
|
Motor stereotypy |
DECIPHER:8 |
Benign Paroxysmal Torticollis Of Infancy |
|
Torticollis, Vertigo, Ataxia, Abnormal head movements |
ORPHA:71518 |
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia |
|
Conductive hearing impairment, Microtia |
OMIM:248910 |
Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal pinna morphology, Low p... |
OMIM:214300 |
Cataract-Ataxia-Deafness Syndrome |
|
Sensorineural hearing impairment, Hypertonia, Ataxia, Decreased nerve conduction velocity, Tremor... |
ORPHA:1368 |
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome |
|
Atresia of the external auditory canal, Conductive hearing impairment, Aplasia/Hypoplasia of the ... |
ORPHA:3236 |
Crouzon Syndrome |
|
Optic atrophy, Conductive hearing impairment, Hearing impairment, Narrow internal auditory canal |
ORPHA:207 |
Hypokalemic Periodic Paralysis, Type 2 |
|
Periodic paralysis, Hypokalemia |
OMIM:613345 |
Intellectual Developmental Disorder, Autosomal Recessive 58 |
|
Motor stereotypy, Spastic diplegia, Choreoathetosis |
OMIM:617270 |
Treacher Collins Syndrome 2 |
|
Conductive hearing impairment, Microtia |
OMIM:613717 |
Multiple Synostoses Syndrome 1 |
|
Conductive hearing impairment, Stapes ankylosis, Bilateral conductive hearing impairment, Waddlin... |
OMIM:186500 |
Middle Ear Neuroendocrine Tumor |
|
Sensorineural hearing impairment, Abnormality of the auditory canal, Unilateral conductive hearin... |
ORPHA:100084 |
Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Abnormal antihelix morphology, Large earlobe, Conductive hearing impairment, Microtia, Overfolded... |
ORPHA:79113 |
Otofaciocervical Syndrome |
|
Abnormal antihelix morphology, Conductive hearing impairment, Protruding ear, Hypertonia, Atresia... |
ORPHA:2792 |
Charcot-Marie-Tooth Disease, Dominant Intermediate G |
|
Sensorineural hearing impairment, Ataxia, Babinski sign, Gait disturbance, Spasticity, Waddling g... |
OMIM:617882 |
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements |
|
EEG abnormality, Inability to walk, Stereotypical hand wringing, Chorea, Dystonia |
OMIM:618760 |
Branchiootorenal Syndrome 1 |
|
Sensorineural hearing impairment, Conductive hearing impairment, Dilatated internal auditory cana... |
OMIM:113650 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Ataxia, Hypoplasia of the ... |
OMIM:609136 |
Ramon Syndrome |
|
Sensorineural hearing impairment, Conductive hearing impairment, Generalized hirsutism |
ORPHA:3019 |
Spastic Paraplegia 81, Autosomal Recessive |
|
Sensorineural hearing impairment, Inability to walk, Ankle clonus, Babinski sign, Optic atrophy, ... |
OMIM:618768 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Conductive hearing impairment, Sparse eyelashes, Microtia |
OMIM:300946 |
Fetal Iodine Syndrome |
|
Sensorineural hearing impairment, Spastic diplegia, Hemiplegia/hemiparesis |
ORPHA:1910 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Hypertonia, Ataxia, Exaggerated startle response, Ankle clonus, Babinski sign, Abnormal pyramidal... |
OMIM:618598 |
Oculoauriculovertebral Spectrum With Radial Defects |
|
Sensorineural hearing impairment, Conductive hearing impairment, Abnormality of the middle ear os... |
ORPHA:2549 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Gait disturbance, Hearing impairment, Decreased nerve conduction velocity, Abnormal auditory evok... |
OMIM:601455 |
Palmoplantar Keratoderma-Deafness Syndrome |
|
Sensorineural hearing impairment |
ORPHA:2202 |
Otofaciocervical Syndrome 1 |
|
Conductive hearing impairment, Cupped ear, Mixed hearing impairment, Hypoplasia of the cochlea |
OMIM:166780 |
Cataract-Deafness-Hypogonadism Syndrome |
|
Sensorineural hearing impairment, Generalized hypertrichosis |
ORPHA:1383 |
Fraxe Intellectual Disability |
|
Prominent ear helix, Clumsiness, Recurrent hand flapping, Stereotypical body rocking |
ORPHA:100973 |
Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome |
|
Sensorineural hearing impairment, Optic atrophy, Ataxia, Dystonia |
ORPHA:1171 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Motor stereotypy, Inability to walk, EEG abnormality, Brain atrophy, Tremor, Spasticity, Low-set ... |
OMIM:618718 |
Late-Infantile/Juvenile Krabbe Disease |
|
Hemiplegia, EEG with persistent abnormal rhythmic activity, Ataxia, Upper motor neuron dysfunctio... |
ORPHA:206443 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Large fleshy ears, Hypertonia, Ataxia, Motor stereotypy, Brain atrophy, Overfolded helix, Myoclon... |
OMIM:619092 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Stapes ankylosis, Thick eyebrow, Synophrys, Low-set ears, Highly arched eyebrow |
OMIM:614701 |
Episodic Ataxia Type 4 |
|
Ataxia, Frequent falls, Vertigo, Abnormal head movements, Incoordination |
ORPHA:79136 |
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness |
|
Conductive hearing impairment |
OMIM:132450 |
17Q24.2 Microdeletion Syndrome |
|
Otosclerosis, Thick eyebrow, Microtia, Synophrys, Recurrent otitis media, Progressive conductive ... |
ORPHA:529962 |
Myoclonic Epilepsy Associated With Ragged-Red Fibers |
|
Sensorineural hearing impairment, Ataxia, Spasticity, Myoclonus |
OMIM:545000 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Conductive hearing impairment, Low-set ears |
OMIM:616910 |
Familial Expansile Osteolysis |
|
Conductive hearing impairment |
OMIM:174810 |
Baker-Gordon Syndrome |
|
Motor stereotypy, Ataxia, Inability to walk, EEG abnormality, Hyperkinetic movements, Choreoathet... |
OMIM:618218 |
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination |
|
Motor stereotypy, Difficulty walking, Cerebral atrophy, Spasticity |
OMIM:617393 |
Merrf |
|
Sensorineural hearing impairment, Optic atrophy, Ataxia |
ORPHA:551 |
Chromosome 3Q29 Deletion Syndrome |
|
Motor stereotypy, Gait ataxia, Macrotia, Low-set ears, Posteriorly rotated ears |
OMIM:609425 |
Deafness And Myopia |
|
Conductive hearing impairment, Profound hearing impairment |
OMIM:221200 |
Hyperchlorhidrosis, Isolated |
|
Hyperkalemia, Hyponatremia |
OMIM:143860 |
Hyperprolinemia, Type I |
|
Motor stereotypy, Ataxia, EEG abnormality, Hyperprolinemia |
OMIM:239500 |
Intellectual Developmental Disorder, Autosomal Recessive 73 |
|
Recurrent hand flapping, Poor coordination, Gait ataxia, Low-set ears, Posteriorly rotated ears |
OMIM:619717 |
N-Acetylaspartate Deficiency |
|
Motor stereotypy, Truncal ataxia |
OMIM:614063 |
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome |
|
Hyperkinetic movements, Stereotypical hand wringing, Macrotia |
ORPHA:397933 |
Neutropenia-Monocytopenia-Deafness Syndrome |
|
Sensorineural hearing impairment |
ORPHA:2690 |
Pseudohypoaldosteronism Type 2 |
|
Periodic paralysis, Hyperkalemia |
ORPHA:757 |
Myopathy, Congenital, Bailey-Bloch |
|
Conductive hearing impairment, Low-set ears |
OMIM:255995 |
Progeroid Facial Appearance With Hand Anomalies |
|
Conductive hearing impairment, Protruding ear, Sparse hair |
OMIM:602249 |
Autosomal Recessive Non-Syndromic Intellectual Disability |
|
Motor stereotypy, Cerebral atrophy, EEG with focal epileptiform discharges, Chorea, EEG with gene... |
ORPHA:88616 |
Abruzzo-Erickson Syndrome |
|
Sensorineural hearing impairment, Conductive hearing impairment, Macrotia |
ORPHA:921 |
Ciliary Dyskinesia, Primary, 33 |
|
Conductive hearing impairment, Recurrent otitis media |
OMIM:616726 |
Craniometaphyseal Dysplasia |
|
Sensorineural hearing impairment, Conductive hearing impairment, Facial palsy, Abnormal cranial n... |
ORPHA:1522 |
Hemifacial Microsomia With Radial Defects |
|
Atresia of the external auditory canal, Conductive hearing impairment, Microtia |
OMIM:141400 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Sensorineural hearing impairment, Clumsiness, Inability to walk, Myoclonus, Limb myoclonus, Frequ... |
ORPHA:2590 |
Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity |
|
Sensorineural hearing impairment, Progressive cerebellar ataxia, Babinski sign, Abnormal pyramida... |
ORPHA:352641 |
External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus |
|
Atresia of the external auditory canal, Conductive hearing impairment |
OMIM:133705 |
Deafness, Autosomal Dominant 41 |
|
Tinnitus, Hearing impairment, Progressive sensorineural hearing impairment |
OMIM:608224 |
Malignant Hyperthermia, Susceptibility To, 3 |
|
Hypertonia, Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia |
OMIM:154276 |
Retinitis Pigmentosa |
|
Sensorineural hearing impairment, Conductive hearing impairment, Optic atrophy |
ORPHA:791 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Ataxia, Orthostatic hypotension, Babinski sign, Autonomic bladder dysfunction, Tremor, Impaired d... |
ORPHA:99027 |
Aural Atresia, Congenital |
|
Atresia of the external auditory canal, Conductive hearing impairment |
OMIM:607842 |
Cleft Palate, Deafness, And Oligodontia |
|
Bilateral conductive hearing impairment |
OMIM:216300 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Motor stereotypy, Ataxia |
OMIM:618709 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Broad-based gait, Motor stereotypy, Optic atrophy, Tremor, Spastic tetraparesis |
OMIM:619470 |
Hypertelorism-Microtia-Facial Clefting Syndrome |
|
Atresia of the external auditory canal, Conductive hearing impairment, Microtia |
ORPHA:2213 |
Alopecia Antibody Deficiency |
|
Conductive hearing impairment, Sparse hair, Sparse body hair, Aplasia/Hypoplasia of the eyebrow, ... |
ORPHA:1006 |
Schinzel-Giedion Syndrome |
|
Large earlobe, Hypertonia, Wide anterior fontanel, Abnormal helix morphology, Infantile sensorine... |
ORPHA:798 |
Developmental And Epileptic Encephalopathy 107 |
|
Motor stereotypy |
OMIM:620033 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Parkinsonism with favorable response to dopaminergic medication, Progressive extrapyramidal muscu... |
ORPHA:240103 |
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Facial Dysmorphism Syndrome |
|
Abnormal antihelix morphology, Conductive hearing impairment |
ORPHA:3145 |
Blepharo-Cheilo-Odontic Syndrome |
|
Conductive hearing impairment, Distichiasis, Abnormal hair quantity |
ORPHA:1997 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Facial palsy, Tongue fasciculations, Abnormal cranial ... |
OMIM:601596 |
Spastic Ataxia 2, Autosomal Recessive |
|
Dysmetria, Babinski sign, Head titubation, Frequent falls, Tremor, Gait ataxia, Spasticity, Fasci... |
OMIM:611302 |
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies |
|
Sensorineural hearing impairment, Conductive hearing impairment, Optic atrophy, Low-set ears, Low... |
OMIM:618672 |
Apert Syndrome |
|
Sensorineural hearing impairment, Conductive hearing impairment, Optic atrophy, Morphological abn... |
ORPHA:87 |
Spastic Paraplegia 44, Autosomal Recessive |
|
Sensorineural hearing impairment, Upper limb spasticity, Dysmetria, Intention tremor, Babinski si... |
OMIM:613206 |
Pontocerebellar Hypoplasia, Type 11 |
|
Motor stereotypy, Broad-based gait, Ataxia, Inability to walk, Limb ataxia, Poor coordination, Di... |
OMIM:617695 |
Zechi-Ceide Syndrome |
|
Conductive hearing impairment, Thick hair, Abnormal helix morphology, Microtia, Stenosis of the e... |
ORPHA:217017 |
Leukoencephalopathy, Cystic, Without Megalencephaly |
|
Sensorineural hearing impairment, Ataxia, Athetosis, Spasticity, Dystonia |
OMIM:612951 |
Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Conductive hearing impairment, Ataxia |
ORPHA:1861 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Rigidity, Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia |
OMIM:145600 |
Dentici-Novelli Neurodevelopmental Syndrome |
|
Motor stereotypy, Hypertonia, Inability to walk, Hypsarrhythmia, Macrotia, Hearing impairment |
OMIM:619877 |
Larsen-Like Syndrome |
|
Conductive hearing impairment, Low-set ears, Wide anterior fontanel, Recurrent otitis media |
OMIM:608545 |
Microtia With Meatal Atresia And Conductive Deafness |
|
Conductive hearing impairment, Anotia, Aplasia/Hypoplasia of the middle ear, Microtia |
OMIM:251800 |
Charcot-Marie-Tooth Disease, Type 4K |
|
Sensorineural hearing impairment, Ataxia, Difficulty walking, Hearing impairment, Dystonia |
OMIM:616684 |
Saethre-Chotzen Syndrome |
|
Abnormal antihelix morphology, Sensorineural hearing impairment, Conductive hearing impairment, L... |
ORPHA:794 |
Birk-Landau-Perez Syndrome |
|
Limb ataxia, Limb hypertonia, Hyperkalemia, Optic atrophy, Difficulty walking, Choreoathetosis, I... |
OMIM:617595 |
Microtia, Hearing Impairment, And Cleft Palate |
|
Microtia, Overfolded helix, Stenosis of the external auditory canal, Mixed hearing impairment, In... |
OMIM:612290 |
Charcot-Marie-Tooth Disease Type 1F |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Impaired proprioception, I... |
ORPHA:101085 |
Coffin-Siris Syndrome 6 |
|
Motor stereotypy, Conductive hearing impairment, Tics, Low-set, posteriorly rotated ears |
OMIM:617808 |
Cortical Dysplasia, Complex, With Other Brain Malformations 2 |
|
Motor stereotypy, Hypertonia, Spastic tetraplegia |
OMIM:615282 |
Adult Krabbe Disease |
|
Hemiplegia, Broad-based gait, Ataxia, Clumsiness, Acroparesthesia, EEG abnormality, Hoffmann sign... |
ORPHA:206448 |
Waardenburg Syndrome, Type 2B |
|
Sensorineural hearing impairment, White forelock, Premature graying of hair |
OMIM:600193 |
Osteopetrosis, Autosomal Dominant 1 |
|
Conductive hearing impairment |
OMIM:607634 |
Acrocraniofacial Dysostosis |
|
Sensorineural hearing impairment, Abnormality of the outer ear, Conductive hearing impairment, Ab... |
OMIM:201050 |
Guanidinoacetate Methyltransferase Deficiency |
|
Ataxia, Abnormality of extrapyramidal motor function, Chorea, Progressive extrapyramidal movement... |
ORPHA:382 |
X-Linked Spinocerebellar Ataxia Type 3 |
|
Sensorineural hearing impairment, Optic atrophy, Ataxia |
ORPHA:85297 |
Charcot-Marie-Tooth Disease Type 4D |
|
Sensorineural hearing impairment, Inability to walk, Decreased motor nerve conduction velocity, D... |
ORPHA:99950 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Abnormal antihelix morphology, Conductive hearing impairment, Aplasia/Hypoplasia of the eyebrow, ... |
ORPHA:3082 |
Oculoauriculofrontonasal Syndrome |
|
Conductive hearing impairment, Microtia |
ORPHA:398156 |
Snijders Blok-Campeau Syndrome |
|
Motor stereotypy, Broad-based gait, Speech apraxia, Unsteady gait, Low-set ears |
OMIM:618205 |
Bor Syndrome |
|
Abnormality of the middle ear ossicles, Stenosis of the external auditory canal, Facial palsy, Ex... |
ORPHA:107 |
Huntington Disease-Like 3 |
|
Broad-based gait, Cerebral cortical atrophy, Extrapyramidal muscular rigidity, Extrapyramidal dys... |
ORPHA:157946 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Motor stereotypy, Inability to walk, Bilateral conductive hearing impairment, Long eyelashes, Low... |
OMIM:617802 |
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Motor stereotypy, Inability to walk, Cerebral atrophy, Stereotypical hand wringing, Chorea, Gait ... |
OMIM:618917 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Ataxia, Temporal optic dis... |
ORPHA:1215 |
Huntington Disease-Like 1 |
|
Clumsiness, Bradykinesia, Poor fine motor coordination, Dysmetria, Cerebral cortical atrophy, EEG... |
ORPHA:157941 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Recurrent hand flapping, Stereotypical body rocking, Poor coordination |
OMIM:309548 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Motor stereotypy, Neuronal loss in central nervous system, Cerebral cortical atrophy, Myoclonus, ... |
OMIM:600795 |
Postaxial Acrofacial Dysostosis |
|
Conductive hearing impairment, Abnormality of the middle ear, Supernumerary nipple, Microtia, Cup... |
ORPHA:246 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Motor stereotypy, Anteverted ears, Synophrys, Macrotia |
OMIM:615541 |
Ciliary Dyskinesia, Primary, 38 |
|
Conductive hearing impairment, Chronic otitis media |
OMIM:618063 |
Abcd Syndrome |
|
Total intestinal aganglionosis, Hearing impairment, Aganglionic megacolon, Abnormal auditory evok... |
OMIM:600501 |
Cleft Palate-Stapes Fixation-Oligodontia Syndrome |
|
Atresia of the external auditory canal, Bilateral conductive hearing impairment |
ORPHA:2010 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Large earlobe, Prominent ear helix, Motor stereotypy, Low anterior hairline, Thick eyebrow, Inabi... |
ORPHA:411986 |
Mucopolysaccharidosis Type 2 |
|
Sensorineural hearing impairment, Otosclerosis, Motor stereotypy, Conductive hearing impairment, ... |
ORPHA:580 |
Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Sensorineural hearing impairment, Conductive hearing impairment, Mixed hearing impairment, Hearin... |
OMIM:118100 |
Branchiogenic-Deafness Syndrome |
|
Sensorineural hearing impairment, Abnormality of the middle ear ossicles, Mixed hearing impairmen... |
OMIM:609166 |
Non-Functioning Paraganglioma |
|
Conductive hearing impairment, Pulsatile tinnitus, Cranial nerve compression, Paroxysmal vertigo,... |
ORPHA:94080 |
Mandibulofacial Dysostosis With Alopecia |
|
Conductive hearing impairment, Protruding ear, Microtia, Stenosis of the external auditory canal,... |
OMIM:616367 |
Deafness-Infertility Syndrome |
|
Sensorineural hearing impairment |
ORPHA:94064 |
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss |
|
Sensorineural hearing impairment, Arm dystonia, Ataxia, Bradykinesia, Dysmetria, Truncal ataxia, ... |
OMIM:601338 |
Developmental And Epileptic Encephalopathy 30 |
|
Motor stereotypy |
OMIM:616341 |
Orofaciodigital Syndrome Vi |
|
Conductive hearing impairment, Low-set ears, Posteriorly rotated ears |
OMIM:277170 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Sensorineural hearing impairment, Paraparesis, Dysmetria, Hand tremor, Tip-toe gait, Decreased mo... |
OMIM:302800 |
Hyperkalemic Periodic Paralysis |
|
Hypertonia, Hypokalemia, Cerebral palsy, Elevated circulating creatine kinase concentration, Hypo... |
ORPHA:682 |
Deafness, Autosomal Dominant 2A |
|
Tinnitus, Hearing impairment |
OMIM:600101 |
Deafness, Autosomal Dominant 58 |
|
Tinnitus, Hearing impairment |
OMIM:615654 |
Gorham-Stout Disease |
|
Torticollis, Hearing impairment, Abnormality of the internal auditory canal |
ORPHA:73 |
Atypical Rett Syndrome |
|
Loss of ambulation, Inability to walk, EEG abnormality, Hand apraxia, Pill-rolling tremor, Stereo... |
ORPHA:3095 |
Developmental And Epileptic Encephalopathy 6B |
|
Motor stereotypy, Ataxia, Inability to walk, EEG with spike-wave complexes (>3.5 Hz), Myoclonus, ... |
OMIM:619317 |
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract |
|
Stereotypical hand wringing, Cerebral atrophy, Spasticity, Hypsarrhythmia |
ORPHA:500545 |
Frontonasal Dysplasia 1 |
|
Conductive hearing impairment, Low-set ears, Widow's peak |
OMIM:136760 |
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome |
|
Sensorineural hearing impairment, Tremor, Premature graying of hair |
ORPHA:66633 |
Severe Intellectual Disability And Progressive Spastic Paraplegia |
|
Motor stereotypy, Cerebral cortical atrophy, Babinski sign, Spastic dysarthria, Difficulty walkin... |
ORPHA:280763 |
Tenosynovial Giant Cell Tumor |
|
Abnormality of the tympanic membrane, Conductive hearing impairment, Abnormality of the auditory ... |
ORPHA:66627 |
Radio-Tartaglia Syndrome |
|
Large earlobe, Low-set ears, Conductive hearing impairment, Ataxia, Motor stereotypy, Thick eyebr... |
OMIM:619312 |
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome |
|
Congenital sensorineural hearing impairment, Leukonychia, Mixed hearing impairment |
ORPHA:2698 |
Johnson Neuroectodermal Syndrome |
|
Conductive hearing impairment, Protruding ear, Sparse hair, Absent eyebrow, Microtia, Alopecia, A... |
ORPHA:2316 |
Johnson Neuroectodermal Syndrome |
|
Conductive hearing impairment, Protruding ear, Sparse hair, Absent eyebrow, Microtia, Alopecia, A... |
OMIM:147770 |
Fibrodysplasia Ossificans Progressiva |
|
Sensorineural hearing impairment, Conductive hearing impairment, Alopecia |
OMIM:135100 |
Ocular Motor Apraxia |
|
Oculomotor apraxia, Jerky head movements |
OMIM:257550 |
Distal Monosomy 10Q |
|
Facial diplegia, Congenital sensorineural hearing impairment, Protruding ear, Cochlear malformati... |
ORPHA:96148 |
Acrocraniofacial Dysostosis |
|
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal pinna morphology, Abnor... |
ORPHA:949 |
Brachycephaly, Trichomegaly, And Developmental Delay |
|
Conductive hearing impairment, Thick eyebrow, Brittle hair, Overfolded helix, Long eyelashes, Syn... |
OMIM:617412 |
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter |
|
Motor stereotypy, Abnormal pinna morphology, Optic atrophy, Difficulty walking, Gait ataxia, Spas... |
OMIM:617807 |
Folinic Acid-Responsive Seizures |
|
Sensorineural hearing impairment, Hypertonia, Ataxia, Broad-based gait, Chorea, Optic atrophy, Di... |
ORPHA:79097 |
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome |
|
Sensorineural hearing impairment, Progressive cerebellar ataxia, Dysmetria, Vestibular areflexia,... |
ORPHA:504476 |
Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Optic atrophy, Conductive hearing impairment |
ORPHA:93262 |
Hypertelorism, Microtia, Facial Clefting Syndrome |
|
Atresia of the external auditory canal, Conductive hearing impairment, Microtia |
OMIM:239800 |
Jeavons Syndrome |
|
EEG with focal spikes, EEG with photoparoxysmal response, EEG with hyperventilation-induced epile... |
ORPHA:139431 |
Kbg Syndrome |
|
EEG abnormality, Thick eyebrow, Abnormal hair pattern, Bilateral conductive hearing impairment, S... |
ORPHA:2332 |
Peroxisome Biogenesis Disorder 5B |
|
Sensorineural hearing impairment, Ataxia, Dysmetria, Tremor, Unsteady gait, Oculomotor apraxia |
OMIM:614867 |
Autism, Susceptibility To, X-Linked 2 |
|
Motor stereotypy |
OMIM:300495 |
Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Ataxia, Recurrent hand flapping, Poor coordination, Gait disturbance, Tremor, Macrotia, Anteverte... |
ORPHA:544254 |
Oculocerebrodental Syndrome |
|
Sensorineural hearing impairment, Conductive hearing impairment, Hearing impairment, Abnormality ... |
ORPHA:557003 |
Burn-Mckeown Syndrome |
|
Conductive hearing impairment, Hearing impairment, Protruding ear |
OMIM:608572 |
Cooper-Jabs Syndrome |
|
Atresia of the external auditory canal, Conductive hearing impairment, Abnormality of the middle ... |
ORPHA:1488 |
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Hypertonia, Ataxia, Hyperkalemia, Spasticity |
OMIM:608885 |
Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia |
|
Sensorineural hearing impairment, Unilateral vestibular schwannoma |
OMIM:603641 |
Renal, Genital, And Middle Ear Anomalies |
|
Abnormality of the middle ear ossicles, Hearing impairment |
OMIM:267400 |
Xq28 (MECP2) duplication |
|
Motor stereotypy, Inability to walk, Progressive spasticity, Gait ataxia, Macrotia |
DECIPHER:45 |
Christianson Syndrome |
|
Motor stereotypy, Thick eyebrow, Truncal ataxia, Gait ataxia, Macrotia, Dystonia |
ORPHA:85278 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Increased circulating ferritin concentration, Absent brainstem auditory responses, Vestibular are... |
ORPHA:3240 |
Cardiospondylocarpofacial Syndrome |
|
Conductive hearing impairment |
ORPHA:3238 |
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language |
|
EEG abnormality, Thick eyebrow, Recurrent hand flapping, Sparse eyebrow, Macrotia |
OMIM:617268 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Sensorineural hearing impairment, Otosclerosis, Conductive hearing impairment, Papilledema, Optic... |
ORPHA:217085 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Sensorineural hearing impairment, Conductive hearing impairment, Motor stereotypy, Speech apraxia... |
ORPHA:261197 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Sensorineural hearing impairment, Otosclerosis, Conductive hearing impairment, Papilledema, Optic... |
ORPHA:217093 |
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Motor stereotypy, Ataxia, Bradykinesia, Resting tremor, Intention tremor, Myoclonus, Parkinsonism... |
OMIM:619725 |
Thyrocerebrorenal Syndrome |
|
Sensorineural hearing impairment, Myoclonus, Nonprogressive cerebellar ataxia, Slurred speech |
ORPHA:3327 |
Deafness, Autosomal Dominant 50 |
|
Sensorineural hearing impairment, Tinnitus, Progressive hearing impairment, Progressive sensorine... |
OMIM:613074 |
Intellectual Developmental Disorder, Autosomal Dominant 7 |
|
Motor stereotypy, Abnormal pinna morphology, Ataxia, Stereotypical hand wringing, Gait disturbanc... |
OMIM:614104 |
Obesity, Hyperphagia, And Developmental Delay |
|
Motor stereotypy |
OMIM:613886 |
Malignant Hyperthermia, Susceptibility To, 2 |
|
Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia |
OMIM:154275 |
Hemangioma-Thrombocytopenia Syndrome |
|
Hyperkalemia |
OMIM:141000 |
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia |
|
Profound sensorineural hearing impairment, Microtia, first degree, Aplasia of the inner ear, Ante... |
OMIM:610706 |
Fragile X Syndrome |
|
Recurrent hand flapping, Abnormal head movements, Macrotia |
OMIM:300624 |
Behavioral Variant Of Frontotemporal Dementia |
|
Motor stereotypy, Frontotemporal cerebral atrophy, Gait disturbance, EEG with continuous slow act... |
ORPHA:275864 |
Leber Congenital Amaurosis 1 |
|
Sensorineural hearing impairment, Optic disc drusen, Hyperthreoninemia, Eye poking |
OMIM:204000 |
East Syndrome |
|
Sensorineural hearing impairment, Ataxia, Action tremor, Hypomagnesemia, Hypokalemia, Inability t... |
ORPHA:199343 |
Smith-Magenis Syndrome |
|
Motor stereotypy, EEG abnormality, Synophrys, Morphological abnormality of the middle ear, Abnorm... |
OMIM:182290 |
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Sensorineural hearing impairment, Motor stereotypy, Protruding ear, Tremor, Low-set ears, Highly ... |
OMIM:618342 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Conductive hearing impairment |
OMIM:601076 |
X-Linked Mandibulofacial Dysostosis |
|
Sensorineural hearing impairment, Conductive hearing impairment, Protruding ear, Aplasia/Hypoplas... |
ORPHA:1131 |
Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy |
|
Sensorineural hearing impairment, Ataxia, Spastic paraplegia |
OMIM:619688 |
4Q21 Microdeletion Syndrome |
|
Motor stereotypy, Low-set ears, Generalized hirsutism, Tremor, Long eyelashes, Synophrys, Hearing... |
ORPHA:238750 |
Autosomal Recessive Ataxia Due To Pex10 Deficiency |
|
Progressive cerebellar ataxia, Limb ataxia, Abnormal pyramidal sign, Truncal ataxia, Abnormal hea... |
ORPHA:247815 |
Hypokalemic Periodic Paralysis, Type 1 |
|
Periodic paralysis, Hypokalemia |
OMIM:170400 |
Paragangliomas 1 |
|
Conductive hearing impairment, Pulsatile tinnitus, Vocal cord paralysis |
OMIM:168000 |
Noonan Syndrome |
|
Sensorineural hearing impairment, Aplasia of the semicircular canal, Abnormal hair quantity, Coar... |
ORPHA:648 |
Microcephaly 3, Primary, Autosomal Recessive |
|
Sensorineural hearing impairment, Mixed hearing impairment |
OMIM:604804 |
Intellectual Developmental Disorder, Autosomal Dominant 34 |
|
Motor stereotypy, Broad-based gait, Coarse hair, Synophrys, Hearing impairment, Curly hair |
OMIM:616351 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Periodic paralysis, Tremor, Hypokalemia |
OMIM:613239 |
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
Motor stereotypy, Babinski sign, Spasticity |
OMIM:612069 |
Trichorhinophalangeal Syndrome Type 2 |
|
Sparse scalp hair, Conductive hearing impairment, Protruding ear, Thick eyebrow, Low-set, posteri... |
ORPHA:502 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Motor stereotypy, Hypertonia, Cerebral palsy, Spasticity, Repetitive compulsive behavior, Low-set... |
ORPHA:352490 |
Lateral Meningocele Syndrome |
|
Sensorineural hearing impairment, Conductive hearing impairment, Abnormality of the middle ear os... |
ORPHA:2789 |
Brunet-Wagner Neurodevelopmental Syndrome |
|
Motor stereotypy, Optic atrophy, Cerebral atrophy, Cerebellar atrophy |
OMIM:619690 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Motor stereotypy, Hyperkinetic movements, Gait disturbance, Tremor, Macrotia, Upper limb spasticity |
ORPHA:457240 |
Intellectual Developmental Disorder With Autism And Dysmorphic Facies |
|
Low-set ears, Recurrent hand flapping |
OMIM:620021 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Conductive hearing impairment, Low-set ears, Posteriorly rotated ears, Synophrys |
OMIM:617877 |
Pseudohypoaldosteronism, Type Iib |
|
Hyperchloremia, Hyperkalemia |
OMIM:614491 |
Pseudohypoaldosteronism, Type Iid |
|
Hyperchloremia, Hyperkalemia |
OMIM:614495 |
Piebald Trait-Neurologic Defects Syndrome |
|
Sensorineural hearing impairment, Abnormal eyebrow morphology, Ataxia, Hypopigmentation of hair, ... |
ORPHA:2885 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Sensorineural hearing impairment, Ataxia, Tetraparesis, Optic disc pallor, Synophrys, Abnormal au... |
OMIM:619260 |
Acute Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Hypertonia, Cerebral palsy, Hypernatremia, Hypoalbuminemia, Abn... |
ORPHA:529799 |
Chronic Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Hypertonia, Cerebral palsy, Hypernatremia, Hypoalbuminemia, Abn... |
ORPHA:529808 |
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant |
|
Stenosis of the external auditory canal, Conductive hearing impairment, Atresia of the external a... |
OMIM:608257 |
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities |
|
Atresia of the external auditory canal, Conductive hearing impairment |
OMIM:602471 |
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome |
|
Conductive hearing impairment, Microtia, Stenosis of the external auditory canal, Abnormal antitr... |
ORPHA:2878 |
Rett Syndrome |
|
Motor stereotypy, Inability to walk, Bradykinesia, EEG abnormality, Abnormal autonomic nervous sy... |
ORPHA:778 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Aplasia/Hypoplasia of the eyebrow, Low-set, posteriorly rotated ears, Abnormal cranial nerve morp... |
ORPHA:990 |
Foxg1 Syndrome |
|
Motor stereotypy, Inability to walk, Myoclonus, Hyperkinetic movements, Stereotypical hand wringi... |
ORPHA:561854 |
Pyruvate Dehydrogenase E2 Deficiency |
|
Ataxia, Jerky head movements, Choreoathetosis, Oculomotor apraxia, Paroxysmal dystonia |
OMIM:245348 |
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract |
|
Sensorineural hearing impairment, Ataxia, Decreased nerve conduction velocity, Dysmetria, Intenti... |
OMIM:612674 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:109120 |
Hyperaldosteronism, Familial, Type Ii |
|
Hypokalemia |
OMIM:605635 |
X-Linked Charcot-Marie-Tooth Disease Type 2 |
|
Sensorineural hearing impairment, Optic neuropathy, Hand tremor, Spastic paraparesis, Clasp-knife... |
ORPHA:101076 |
Rhyns Syndrome |
|
Conductive hearing impairment |
OMIM:602152 |
Phaver Syndrome |
|
Conductive hearing impairment, Overfolded helix, Low-set ears, Posteriorly rotated ears, Aplasia/... |
ORPHA:2876 |
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
|
Sensorineural hearing impairment, Sparse eyebrow, Microtia, Stenosis of the external auditory can... |
OMIM:606164 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Sensorineural hearing impairment, Conductive hearing impairment, Low-set, posteriorly rotated ears |
ORPHA:1307 |
Microcephaly-Deafness-Intellectual Disability Syndrome |
|
Sensorineural hearing impairment, Low-set ears, Protruding ear, Cupped ear |
ORPHA:2533 |
Waardenburg Syndrome, Type 4A |
|
Sensorineural hearing impairment, Ataxia, Spastic paraparesis, White eyebrow, White eyelashes, Wh... |
OMIM:277580 |
Thyrocerebroretinal Syndrome |
|
Sensorineural hearing impairment, Ataxia, Slurred speech, Myoclonus |
OMIM:274240 |
Cleft Lip/Palate |
|
Conductive hearing impairment, Recurrent otitis media |
ORPHA:199306 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hyperkalemia, Hyponatremia |
OMIM:614736 |
Myoglobinuria, Acute Recurrent, Autosomal Recessive |
|
Elevated circulating creatine kinase concentration, Hyperkalemia |
OMIM:268200 |
Cdkl5-Deficiency Disorder |
|
Stereotypical hand wringing, Gait disturbance, Difficulty walking, Multifocal epileptiform discha... |
ORPHA:505652 |
Craniosynostosis And Dental Anomalies |
|
Conductive hearing impairment, Stapes ankylosis, Papilledema, Absent malleus, Chronic otitis media |
OMIM:614188 |
Madras Motor Neuron Disease |
|
Sensorineural hearing impairment, Babinski sign, Limb fasciculations, Optic atrophy, Tinnitus, Fa... |
ORPHA:137867 |
Acrootoocular Syndrome |
|
Sensorineural hearing impairment, Conductive hearing impairment, Pseudopapilledema, Atresia of th... |
ORPHA:2980 |
Corticosterone Methyloxidase Type Ii Deficiency |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:610600 |
Agnathia-Otocephaly Complex |
|
Conductive hearing impairment, Low-set ears, Synotia |
OMIM:202650 |
Lateral Meningocele Syndrome |
|
Conductive hearing impairment, Abnormality of the middle ear ossicles, Coarse hair, Low-set ears,... |
OMIM:130720 |
Waardenburg Syndrome Type 2 |
|
Sensorineural hearing impairment, Premature graying of hair, Hypopigmentation of hair, White fore... |
ORPHA:895 |
Developmental And Epileptic Encephalopathy 26 |
|
Stereotypical hand wringing |
OMIM:616056 |
Corticosterone Methyloxidase Type I Deficiency |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:203400 |
Hypokalemic Periodic Paralysis |
|
Episodic hypokalemia, Respiratory paralysis, Periodic hypokalemic paresis, Paralysis, Mildly elev... |
ORPHA:681 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Conductive hearing impairment, Supernumerary nipple, Patchy alopecia, Sparse eyelashes, Sparse bo... |
OMIM:106260 |
Isolated Cleft Lip |
|
Abnormal Eustachian tube morphology, Conductive hearing impairment, Chronic otitis media |
ORPHA:199302 |
Smith-Magenis Syndrome |
|
Motor stereotypy, Conductive hearing impairment, EEG abnormality, Chronic otitis media, Gait dist... |
ORPHA:819 |
19P13.12 Microdeletion Syndrome |
|
Sensorineural hearing impairment, Conductive hearing impairment, Generalized hirsutism, External ... |
ORPHA:254346 |
Chromosome 18Q Deletion Syndrome |
|
Sensorineural hearing impairment, Conductive hearing impairment, Broad-based gait, Low anterior h... |
OMIM:601808 |
Waardenburg Syndrome |
|
Conductive hearing impairment, Abnormal eyebrow morphology, Premature graying of hair, Hypopigmen... |
ORPHA:3440 |
Ogden Syndrome |
|
Torticollis, Hypertonia, Aplasia/Hypoplasia of the eyebrow, Shuffling gait, Fine hair, Abnormal h... |
ORPHA:276432 |
Gorlin-Chaudhry-Moss Syndrome |
|
Conductive hearing impairment, Coarse hair, Low anterior hairline, Generalized hirsutism |
ORPHA:2095 |
Pseudohypoaldosteronism, Type Iic |
|
Hyperchloremia, Hyperkalemia |
OMIM:614492 |
Pseudohypoaldosteronism, Type Iie |
|
Hyperchloremia, Hyperkalemia |
OMIM:614496 |
Crandall Syndrome |
|
Sensorineural hearing impairment, Pili torti, Brittle hair, Alopecia, Sparse body hair, Aplasia/H... |
ORPHA:202 |
Hypoadrenocorticism, Familial |
|
Hyperkalemia, Hyponatremia |
OMIM:240200 |
Marshall-Smith Syndrome |
|
Optic atrophy, Conductive hearing impairment, Generalized hirsutism |
ORPHA:561 |
Craniometaphyseal Dysplasia, Autosomal Dominant |
|
Mixed hearing impairment, Facial palsy |
OMIM:123000 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Conductive hearing impairment, Pulsatile tinnitus, Cranial nerve compression, Paroxysmal vertigo,... |
ORPHA:276621 |
Hydroxykynureninuria |
|
Motor stereotypy, Hypertonia, Congenital sensorineural hearing impairment, Abnormal circulating t... |
ORPHA:79155 |
Deafness, Neural, With Atypical Atopic Dermatitis |
|
Sensorineural hearing impairment |
OMIM:221700 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Conductive hearing impairment, Microtia, Overfolded helix, Atresia of the external auditory canal... |
OMIM:610536 |
Kniest Dysplasia |
|
Gait disturbance, Conductive hearing impairment, Recurrent otitis media |
OMIM:156550 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Motor stereotypy, EEG with photoparoxysmal response, Ataxia, Cortical myoclonus, Inability to wal... |
ORPHA:168491 |
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Motor stereotypy, Speech apraxia |
OMIM:613670 |
Usher Syndrome Type 2 |
|
Sensorineural hearing impairment, Ataxia, Abnormality of the inner ear |
ORPHA:231178 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Motor stereotypy, Macrotia |
OMIM:618504 |
Developmental Delay, Hypotonia, And Impaired Language |
|
Mixed hearing impairment, Ataxia |
OMIM:620012 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Sensorineural hearing impairment, Motor stereotypy, Synophrys, Recurrent otitis media, Low-set ea... |
OMIM:617751 |
Distal Monosomy 19P13.3 |
|
Sensorineural hearing impairment, Conductive hearing impairment, Thick eyebrow, Alopecia, Low-set... |
ORPHA:96129 |
Mucopolysaccharidosis Type 3 |
|
Ataxia, Otitis media, Coarse hair, Optic atrophy, Spasticity, Hypertonia, Loss of ambulation, Mix... |
ORPHA:581 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Sensorineural hearing impairment, Motor stereotypy, Congenital sensorineural hearing impairment, ... |
ORPHA:500159 |
Diamond-Blackfan Anemia 10 |
|
Low-set ears, Conductive hearing impairment, Microtia, Atresia of the external auditory canal, He... |
OMIM:613309 |
Crouzon Syndrome |
|
Atresia of the external auditory canal, Conductive hearing impairment, Optic atrophy |
OMIM:123500 |
Dystonia, Juvenile-Onset |
|
Sensorineural hearing impairment, Leg dystonia, Loss of ambulation, Pseudobulbar paralysis, Oculo... |
OMIM:607371 |
2Q37 Microdeletion Syndrome |
|
Motor stereotypy, Conductive hearing impairment, Sparse scalp hair, Supernumerary nipple, Sparse ... |
ORPHA:1001 |
Down Syndrome |
|
Conductive hearing impairment, Sparse hair, Round ear, Gait disturbance, Aganglionic megacolon |
ORPHA:870 |
Coffin-Siris Syndrome 7 |
|
Motor stereotypy, Low-set ears, Recurrent otitis media, Sparse scalp hair, Thick eyebrow, Macroti... |
OMIM:618027 |
Tay-Sachs Disease |
|
Inability to walk, Laryngeal dystonia, Optic atrophy, Tremor, Exaggerated startle response, Dysme... |
ORPHA:845 |
Van Maldergem Syndrome 2 |
|
Sensorineural hearing impairment, Conductive hearing impairment, Wide anterior fontanel, Microtia... |
OMIM:615546 |
Immunodeficiency 23 |
|
Sensorineural hearing impairment, Conductive hearing impairment, Ataxia, Cortical myoclonus, Myoc... |
OMIM:615816 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Sensorineural hearing impairment, Motor stereotypy, Inability to walk, Cerebral cortical atrophy,... |
ORPHA:457351 |
Björnstad Syndrome |
|
Sensorineural hearing impairment, Brittle hair, Alopecia |
ORPHA:123 |
Branchio-Oculo-Facial Syndrome |
|
Conductive hearing impairment, Abnormal pinna morphology, Low-set, posteriorly rotated ears, Prem... |
ORPHA:1297 |
Gm2-Gangliosidosis, Ab Variant |
|
Hypertonia, Exaggerated startle response, Cerebral atrophy, Abnormal pyramidal sign, Neurodegener... |
OMIM:272750 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:177735 |
Infantile Krabbe Disease |
|
Decreased nerve conduction velocity, Opisthotonus, Ankle clonus, Decerebrate rigidity, Spastic di... |
ORPHA:206436 |
Van Maldergem Syndrome 1 |
|
Sensorineural hearing impairment, Conductive hearing impairment, Wide anterior fontanel, Microtia... |
OMIM:601390 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Motor stereotypy, Ataxia, Inability to walk, Recurrent hand flapping, Opisthotonus, Limb hyperton... |
OMIM:619580 |
Osteogenesis Imperfecta, Type Xvi |
|
Conductive hearing impairment, Hearing impairment |
OMIM:616229 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Inability to walk, Exaggerated startle response, Ankle clonus, Babinski sign, Spastic paraplegia,... |
OMIM:609541 |
Cockayne Syndrome Type 1 |
|
Absent brainstem auditory responses, Ataxia, Optic atrophy, Tremor, Difficulty walking, Gait dist... |
ORPHA:90321 |
Kapur-Toriello Syndrome |
|
Conductive hearing impairment, Low-set ears, Low posterior hairline |
OMIM:244300 |
Heimler Syndrome 2 |
|
Sensorineural hearing impairment, Beau's lines, Leukonychia |
OMIM:616617 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Stenosis of the external auditory canal, Conductive hearing impairment, Microtia |
OMIM:171480 |
Late-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
ORPHA:556037 |
Deafness, Autosomal Recessive 103 |
|
Sensorineural hearing impairment, Vestibular dysfunction, Vestibular areflexia |
OMIM:616042 |
Beckwith-Wiedemann Syndrome |
|
Posterior helix pit, Wide anterior fontanel, Otosclerosis, Anterior creases of earlobe, Abnormal ... |
ORPHA:116 |
Pick Disease Of Brain |
|
Motor stereotypy |
OMIM:172700 |
Congenital Disorder Of Glycosylation, Type Iit |
|
Conductive hearing impairment, Low-set, posteriorly rotated ears |
OMIM:618885 |
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, Autosomal Dominant 72 |
|
Sensorineural hearing impairment, Tinnitus |
OMIM:617606 |
Deafness, Autosomal Dominant 82 |
|
Sensorineural hearing impairment, Tinnitus |
OMIM:619804 |
Deafness, Y-Linked 1 |
|
Tinnitus, Sensorineural hearing impairment |
OMIM:400043 |
Deafness, Autosomal Dominant 43 |
|
Tinnitus, Sensorineural hearing impairment |
OMIM:608394 |
Stickler Syndrome, Type I |
|
Sensorineural hearing impairment, Conductive hearing impairment |
OMIM:108300 |
Deafness, Autosomal Dominant 33 |
|
Tinnitus, Sensorineural hearing impairment |
OMIM:614211 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Motor stereotypy, Loss of ambulation, Clumsiness, Poor fine motor coordination, Cerebral atrophy,... |
ORPHA:79264 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Sensorineural hearing impairment, Hearing impairment, Mixed hearing impairment, Conductive hearin... |
OMIM:616331 |
Chanarin-Dorfman Syndrome |
|
Sensorineural hearing impairment, Ataxia, Alopecia, Microtia |
OMIM:275630 |
Brachydactyly, Type A1, With Short Stature, Scoliosis, Microcephaly, Ptosis, Hearing Loss, And Mental Retardation |
|
Mixed hearing impairment, Chronic otitis media |
OMIM:613627 |
Liddle Syndrome 3 |
|
Hypokalemia |
OMIM:618126 |
Gm2 Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Cerebral atrophy, Abnormal pyramidal sign, Neurodegeneration, Progr... |
ORPHA:309246 |
Brittle Cornea Syndrome |
|
Sensorineural hearing impairment, Conductive hearing impairment, Abnormality of hair pigmentation... |
ORPHA:90354 |
Oculodentodigital Dysplasia |
|
Paraparesis, Conductive hearing impairment, Abnormal pinna morphology, Ataxia, Sparse hair, Dry h... |
OMIM:164200 |
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance |
|
Sensorineural hearing impairment, Ataxia, Hypomagnesemia, Hypokalemia, Intention tremor, Dysdiado... |
OMIM:612780 |
Craniometaphyseal Dysplasia, Autosomal Recessive |
|
Optic atrophy, Mixed hearing impairment, Facial palsy |
OMIM:218400 |
Deafness, Autosomal Recessive 88 |
|
Mixed hearing impairment |
OMIM:615429 |
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia |
|
Overfolded helix, Mixed hearing impairment, Broad lateral eyebrow, Long eyelashes, Low-set ears, ... |
OMIM:608624 |
Giant Cell Arteritis |
|
Conductive hearing impairment, Ataxia, Alopecia, Optic atrophy, Vertigo, Hearing impairment |
ORPHA:397 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|