Deafness, Autosomal Dominant 73 |
|
Hearing impairment |
OMIM:617663 |
Deafness, Aminoglycoside-Induced |
|
Aminoglycoside-induced hearing loss |
OMIM:580000 |
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 17 |
|
High-frequency hearing impairment |
OMIM:603622 |
Deafness, Autosomal Dominant 74 |
|
Hearing impairment |
OMIM:618140 |
Deafness, Autosomal Dominant 7 |
|
High-frequency hearing impairment |
OMIM:601412 |
Deafness, Autosomal Dominant 2B |
|
High-frequency hearing impairment |
OMIM:612644 |
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 Recessive 102 |
|
Profound hearing impairment |
OMIM:615974 |
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 Recessive 91 |
|
Progressive hearing impairment |
OMIM:613453 |
Deafness, Autosomal Dominant 18 |
|
Progressive hearing impairment |
OMIM:606012 |
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 |
Vertigo, Benign Recurrent |
|
Gait imbalance, Vertigo |
OMIM:193007 |
Deafness, Autosomal Recessive 25 |
|
Hearing impairment, Progressive sensorineural hearing impairment |
OMIM:613285 |
Hypertriglyceridemia 2 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:619324 |
Deafness, Autosomal Recessive 30 |
|
Progressive hearing impairment, Progressive sensorineural hearing impairment |
OMIM:607101 |
Atherosclerosis Susceptibility |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration |
OMIM:108725 |
Deafness, X-Linked 6 |
|
Incomplete partition of the cochlea, Bilateral sensorineural hearing impairment |
OMIM:300914 |
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 |
Hypogonadotropic Hypogonadism 17 With Or Without Anosmia |
|
Hearing impairment |
OMIM:615266 |
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 |
Usher Syndrome, Type Id |
|
Vestibular dysfunction, Hearing impairment |
OMIM:601067 |
Spinocerebellar Ataxia, Autosomal Recessive 3 |
|
Hearing impairment, Cochlear degeneration |
OMIM:271250 |
Deafness, Autosomal Recessive 74 |
|
Hearing impairment |
OMIM:613718 |
Opticocochleodentate Degeneration |
|
Optic atrophy, Hearing impairment, Cochlear degeneration |
OMIM:258700 |
Facial Paresis, Hereditary Congenital, 2 |
|
Hearing impairment |
OMIM:604185 |
Keratoderma, Palmoplantar, With Deafness |
|
Hearing impairment |
OMIM:148350 |
Cochleosaccular Degeneration-Cataract Syndrome |
|
Cochlear degeneration, Progressive sensorineural hearing impairment |
ORPHA:3233 |
Auditory Neuropathy, Autosomal Dominant 1 |
|
Sensorineural hearing impairment, Abnormal speech discrimination, Absence of acoustic reflex, Abn... |
OMIM:609129 |
Deafness, Autosomal Dominant 9 |
|
Postlingual sensorineural hearing impairment, Tinnitus, Cochlear degeneration, Vertigo, Abnormali... |
OMIM:601369 |
Psychogenic Movement Disorders |
|
Gait disturbance |
ORPHA:71519 |
Benign Hereditary Chorea |
|
Gait disturbance |
ORPHA:1429 |
Usher Syndrome, Type If |
|
Vestibular dysfunction, Congenital sensorineural hearing impairment, Impaired tandem gait |
OMIM:602083 |
Deafness, Autosomal Recessive 9 |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Absence of acoustic reflex |
OMIM:601071 |
Deafness, Autosomal Recessive 84B |
|
Sensorineural hearing impairment, Vestibular hypofunction |
OMIM:614944 |
Fibromatosis, Gingival, 1 |
|
Hearing impairment |
OMIM:135300 |
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 Recessive 94 |
|
Vestibular dysfunction, Bilateral sensorineural hearing impairment |
OMIM:618434 |
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 77 |
|
Bilateral sensorineural hearing impairment |
OMIM:613079 |
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 12 |
|
Prelingual sensorineural hearing impairment |
OMIM:601386 |
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 111 |
|
Progressive sensorineural hearing impairment |
OMIM:618145 |
Deafness, Autosomal Recessive 21 |
|
Sensorineural hearing impairment |
OMIM:603629 |
Deafness, Autosomal Dominant 20 |
|
Bilateral sensorineural hearing impairment, Progressive sensorineural hearing impairment |
OMIM:604717 |
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 3 |
|
Profound sensorineural hearing impairment |
OMIM:600316 |
Deafness, Autosomal Recessive 59 |
|
Sensorineural hearing impairment |
OMIM:610220 |
Deafness, Autosomal Dominant 59 |
|
Sensorineural hearing impairment |
OMIM:612642 |
Deafness, Autosomal Dominant 3B |
|
Adult onset sensorineural hearing impairment |
OMIM:612643 |
Deafness, Autosomal Recessive 61 |
|
Sensorineural hearing impairment |
OMIM:613865 |
Deafness, Autosomal Recessive 40 |
|
Prelingual sensorineural hearing impairment |
OMIM:608264 |
Deafness, Autosomal Recessive 39 |
|
Prelingual sensorineural hearing impairment |
OMIM:608265 |
Deafness, Autosomal Dominant 4A |
|
Progressive sensorineural hearing impairment |
OMIM:600652 |
Deafness, Autosomal Dominant 13 |
|
Sensorineural hearing impairment |
OMIM:601868 |
Deafness, Autosomal Recessive 117 |
|
Sensorineural hearing impairment |
OMIM:619174 |
Deafness, Autosomal Recessive 15 |
|
Sensorineural hearing impairment, Prelingual sensorineural hearing impairment |
OMIM:601869 |
Deafness, Autosomal Recessive 63 |
|
Congenital sensorineural hearing impairment |
OMIM:611451 |
Deafness, Autosomal Recessive 71 |
|
Prelingual sensorineural hearing impairment |
OMIM:612789 |
Deafness, Autosomal Recessive 22 |
|
Sensorineural hearing impairment |
OMIM:607039 |
Deafness, Autosomal Dominant 27 |
|
Sensorineural hearing impairment |
OMIM:612431 |
Deafness, Autosomal Recessive 45 |
|
Prelingual sensorineural hearing impairment |
OMIM:612433 |
Deafness, Autosomal Dominant 5 |
|
Progressive sensorineural hearing impairment |
OMIM:600994 |
Deafness, Autosomal Recessive 98 |
|
Sensorineural hearing impairment |
OMIM:614861 |
Deafness, Autosomal Recessive 62 |
|
Prelingual sensorineural hearing impairment |
OMIM:610143 |
Deafness, Autosomal Recessive 67 |
|
Sensorineural hearing impairment, Bilateral sensorineural hearing impairment |
OMIM:610265 |
Deafness, Autosomal Recessive 101 |
|
Bilateral sensorineural hearing impairment |
OMIM:615837 |
Deafness, Autosomal Dominant 21 |
|
Sensorineural hearing impairment |
OMIM:607017 |
Deafness, Autosomal Dominant 78 |
|
Profound sensorineural hearing impairment |
OMIM:619081 |
Deafness, Autosomal Dominant 79 |
|
Progressive sensorineural hearing impairment |
OMIM:619086 |
Deafness, Autosomal Recessive 49 |
|
Prelingual sensorineural hearing impairment |
OMIM:610153 |
Deafness, Autosomal Recessive 44 |
|
Prelingual sensorineural hearing impairment |
OMIM:610154 |
Deafness, Autosomal Recessive 79 |
|
Sensorineural hearing impairment, Progressive sensorineural hearing impairment |
OMIM:613307 |
Deafness, Autosomal Recessive 116 |
|
Sensorineural hearing impairment |
OMIM:619093 |
Deafness, Autosomal Recessive 38 |
|
Prelingual sensorineural hearing impairment |
OMIM:608219 |
Deafness, Autosomal Dominant 68 |
|
Sensorineural hearing impairment |
OMIM:616707 |
Deafness, Autosomal Recessive 97 |
|
Sensorineural hearing impairment |
OMIM:616705 |
Deafness, Autosomal Dominant 6 |
|
Low-frequency sensorineural hearing impairment, Progressive sensorineural hearing impairment |
OMIM:600965 |
Deafness, Autosomal Recessive 24 |
|
Profound sensorineural hearing impairment |
OMIM:611022 |
Deafness, Autosomal Recessive 83 |
|
Prelingual sensorineural hearing impairment |
OMIM:613685 |
Deafness, Autosomal Recessive 23 |
|
Sensorineural hearing impairment |
OMIM:609533 |
Deafness, Autosomal Recessive 46 |
|
Profound sensorineural hearing impairment |
OMIM:609647 |
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 70 |
|
Progressive sensorineural hearing impairment |
OMIM:616968 |
Deafness, Autosomal Dominant 44 |
|
Sensorineural hearing impairment |
OMIM:607453 |
Deafness, Autosomal Dominant 47 |
|
Sensorineural hearing impairment |
OMIM:608652 |
Deafness, Autosomal Dominant 22 |
|
Sensorineural hearing impairment, Progressive sensorineural hearing impairment |
OMIM:606346 |
Deafness, Autosomal Dominant 31 |
|
Old-aged sensorineural hearing impairment |
OMIM:608645 |
Deafness, Autosomal Recessive 76 |
|
Progressive sensorineural hearing impairment |
OMIM:615540 |
Deafness, Autosomal Dominant 28 |
|
Sensorineural hearing impairment |
OMIM:608641 |
Deafness, Sensorineural, Autosomal-Mitochondrial Type |
|
Sensorineural hearing impairment, Progressive sensorineural hearing impairment |
OMIM:221745 |
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 Dominant 83 |
|
Bilateral sensorineural hearing impairment |
OMIM:619808 |
Deafness, Autosomal Recessive 53 |
|
Sensorineural hearing impairment |
OMIM:609706 |
Deafness, Autosomal Recessive 28 |
|
Severe sensorineural hearing impairment |
OMIM:609823 |
Deafness, Autosomal Recessive 85 |
|
Prelingual sensorineural hearing impairment |
OMIM:613392 |
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, X-Linked 3 |
|
Congenital sensorineural hearing impairment |
OMIM:300030 |
Deafness, Autosomal Recessive 2 |
|
Sensorineural hearing impairment, Vertigo, Vestibular dysfunction |
OMIM:600060 |
Deafness, Autosomal Recessive 70, With Or Without Adult-Onset Neurodegeneration |
|
Vestibular dysfunction, Hearing impairment |
OMIM:614934 |
Fish-Eye Disease |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased VLDL cholesterol concent... |
OMIM:136120 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Hyperlipoproteinemia, Increased HDL cholesterol concentration, Hypotriglyceridemi... |
ORPHA:79506 |
Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment, Vestibular dysf... |
OMIM:616515 |
Cochleosaccular Degeneration With Progressive Cataracts |
|
Hearing impairment |
OMIM:120040 |
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
|
Sensorineural hearing impairment, Incomplete partition of the cochlea type II, Enlarged vestibula... |
OMIM:600791 |
Hypercholesterolemia, Familial, 4 |
|
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Hypercholesterolemia |
OMIM:603813 |
Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction |
|
Cochlear degeneration, Progressive sensorineural hearing impairment |
OMIM:172500 |
Pendred Syndrome |
|
Vestibular dysfunction, Congenital sensorineural hearing impairment, Cochlear malformation |
OMIM:274600 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:144300 |
Deafness, Autosomal Recessive 118, With Cochlear Aplasia |
|
Vestibular dysfunction, Congenital sensorineural hearing impairment, Cochlear aplasia |
OMIM:619553 |
Deafness, Autosomal Dominant 77 |
|
Sensorineural hearing impairment, Tinnitus, Morphological abnormality of the inner ear |
OMIM:618915 |
Meniere Disease |
|
Tinnitus, Vertigo, Hearing impairment |
OMIM:156000 |
Deafness, Autosomal Dominant 41 |
|
Tinnitus, Hearing impairment, Progressive sensorineural hearing impairment |
OMIM:608224 |
Chromosome Xq21 Deletion Syndrome |
|
Conductive hearing impairment, Incomplete partition of the cochlea, Hearing impairment, Progressi... |
OMIM:303110 |
Glycogen Storage Disease Vi |
|
Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia |
OMIM:232700 |
Branchiootic Syndrome 1 |
|
Sensorineural hearing impairment, Low-set ears, Cochlear malformation, Microtia, Dilatated intern... |
OMIM:602588 |
Deafness, Autosomal Dominant 2A |
|
Tinnitus, Hearing impairment |
OMIM:600101 |
Deafness, Autosomal Dominant 58 |
|
Tinnitus, Hearing impairment |
OMIM:615654 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypertriglyceridemia |
ORPHA:366 |
Deafness, Autosomal Recessive 109 |
|
Congenital sensorineural hearing impairment, Morphological abnormality of the semicircular canal |
OMIM:618013 |
Deafness, Autosomal Dominant 50 |
|
Sensorineural hearing impairment, Tinnitus, Progressive hearing impairment, Progressive sensorine... |
OMIM:613074 |
Deafness, Autosomal Dominant 80 |
|
Dilated vestibule of the inner ear, Congenital sensorineural hearing impairment, Morphological ab... |
OMIM:619274 |
Usher Syndrome Type 1 |
|
Sensorineural hearing impairment, Cerebral cortical atrophy, Vestibular hypofunction, Abnormal co... |
ORPHA:231169 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hypertriglyceridemia |
OMIM:619175 |
Usher Syndrome Type 3 |
|
Sensorineural hearing impairment, Vestibular hypofunction, Abnormal cochlea morphology |
ORPHA:231183 |
Myoclonus, Cerebellar Ataxia, And Deafness |
|
Hearing impairment, Ataxia |
OMIM:159800 |
Non-Syndromic Genetic Deafness |
|
Postlingual sensorineural hearing impairment, Conductive hearing impairment, High-frequency heari... |
ORPHA:87884 |
Hypertriglyceridemia 1 |
|
Hypertriglyceridemia, Increased VLDL cholesterol concentration |
OMIM:145750 |
Hyperlipoproteinemia, Type Iv |
|
Hypertriglyceridemia, Increased VLDL cholesterol concentration |
OMIM:144600 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia |
OMIM:610947 |
Deafness-Hypogonadism Syndrome |
|
Conductive hearing impairment, Stapes ankylosis, Abnormality of the middle ear ossicles, Abnormal... |
ORPHA:90646 |
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome |
|
Optic atrophy, Hearing impairment, Cochlear degeneration, Spinocerebellar atrophy |
ORPHA:95433 |
Deafness, X-Linked 2 |
|
Stapes ankylosis, Congenital sensorineural hearing impairment, Conductive hearing impairment, Dil... |
OMIM:304400 |
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Increased LDL cholester... |
OMIM:616516 |
Hepatic Lipase Deficiency |
|
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:614025 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy |
OMIM:601382 |
Deafness, X-Linked 5, With Peripheral Neuropathy |
|
Abnormal middle ear reflexes, Tinnitus, Unsteady gait, Abnormal speech discrimination, Hearing im... |
OMIM:300614 |
Lipase Deficiency, Combined |
|
Hypertriglyceridemia |
OMIM:246650 |
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency |
|
Hypertriglyceridemia, Increased HDL cholesterol concentration |
ORPHA:140905 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hyperbilirubinemia, Decreased HDL cholesterol concentration, Hypermethioninemia, Hypertriglycerid... |
OMIM:605814 |
Optic Atrophy 8 |
|
Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Prolonged s... |
OMIM:616648 |
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 |
Ravine Syndrome |
|
Abnormal auditory evoked potentials, Atrophy/Degeneration affecting the brainstem |
ORPHA:99852 |
Deafness, Autosomal Dominant 16 |
|
Tinnitus, Adult onset sensorineural hearing impairment |
OMIM:603964 |
Hyperlipidemia, Familial Combined, 3 |
|
Elevated circulating apolipoprotein B concentration, Hyperlipidemia, Increased LDL cholesterol co... |
OMIM:144250 |
Morbid Obesity And Spermatogenic Failure |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... |
OMIM:615703 |
Hypertriglyceridemia, Transient Infantile |
|
Hypertriglyceridemia |
OMIM:614480 |
Lecithin:Cholesterol Acyltransferase Deficiency |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration |
OMIM:245900 |
Otosclerosis 7 |
|
Otosclerosis, Conductive hearing impairment, Progressive hearing impairment, Abnormality of the a... |
OMIM:611572 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Sensorineural hearing impairment, Abnormality of somatosensory evoked potentials, Abnormal motor ... |
ORPHA:320401 |
Mohr-Tranebjaerg Syndrome |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Postlingual sensorineural ... |
ORPHA:52368 |
Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Hypertriglyceridemia |
OMIM:618010 |
Bor Syndrome |
|
Abnormality of the middle ear ossicles, Stenosis of the external auditory canal, External ear mal... |
ORPHA:107 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hypertriglyceridemia |
OMIM:608898 |
Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1 |
|
Tinnitus, High-frequency hearing impairment, Bilateral sensorineural hearing impairment |
OMIM:605594 |
Pendred Syndrome |
|
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Vertigo, Hypoplasia of the cochle... |
ORPHA:705 |
Fraxe Intellectual Disability |
|
Prominent ear helix, Clumsiness, Recurrent hand flapping, Stereotypical body rocking |
ORPHA:100973 |
Vestibulocochlear Dysfunction, Progressive |
|
Tinnitus, Progressive hearing impairment, Vestibular areflexia |
OMIM:193005 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Hypertriglyceridemia |
ORPHA:436182 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Hearing impairment, Decreased nerve conduction velocity, Abnormal auditory evoked potentials |
OMIM:601455 |
Benign Paroxysmal Torticollis Of Infancy |
|
Torticollis, Vertigo, Ataxia, Abnormal head movements |
ORPHA:71518 |
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome |
|
Hyperkinetic movements, Stereotypical hand wringing, Macrotia |
ORPHA:397933 |
Glycogen Storage Disease Ixa1 |
|
Hypertriglyceridemia, Hyperuricemia, Hypercholesterolemia |
OMIM:306000 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hypertriglyceridemia |
OMIM:615924 |
Body Mass Index Quantitative Trait Locus 19 |
|
Hypertriglyceridemia, Hyperlipidemia |
OMIM:617885 |
Otosclerosis 8 |
|
Otosclerosis, Hearing impairment |
OMIM:612096 |
Otosclerosis 3 |
|
Otosclerosis, Hearing impairment |
OMIM:608244 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hypertriglyceridemia |
ORPHA:71529 |
Neutral Lipid Storage Disease With Myopathy |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration |
OMIM:610717 |
Niemann-Pick Disease, Type B |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... |
OMIM:607616 |
Abcd Syndrome |
|
Total intestinal aganglionosis, Hearing impairment, Aganglionic megacolon, Abnormal auditory evok... |
OMIM:600501 |
Deafness, Autosomal Recessive 103 |
|
Sensorineural hearing impairment, Vestibular dysfunction, Vestibular areflexia |
OMIM:616042 |
Chromosome 3Q29 Deletion Syndrome |
|
Motor stereotypy, Gait ataxia, Macrotia, Low-set ears, Posteriorly rotated ears |
OMIM:609425 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Optic atrophy, Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment |
OMIM:125250 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Facial palsy, EEG abnormality |
OMIM:617519 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Axonal degeneration, Decreased motor nerve conduction velocity, Facial palsy, Abnormal cranial ne... |
OMIM:601596 |
Apolipoprotein C-Ii Deficiency |
|
Hypertriglyceridemia, Increased circulating chylomicron concentration, Decreased circulating apol... |
OMIM:207750 |
Episodic Ataxia Type 4 |
|
Ataxia, Incoordination, Frequent falls, Abnormal head movements, Vertigo |
ORPHA:79136 |
Deafness, Autosomal Recessive 36, With Or Without Vestibular Involvement |
|
Sensorineural hearing impairment, Vestibular areflexia |
OMIM:609006 |
Hypobetalipoproteinemia, Familial, 1 |
|
Steatorrhea, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypocholesterolemia, ... |
OMIM:615558 |
Cholesteryl Ester Storage Disease |
|
Hypertriglyceridemia, Hypercholesterolemia |
ORPHA:75234 |
Abdominal Obesity-Metabolic Syndrome 4 |
|
Hypertriglyceridemia, Elevated hemoglobin A1c, Decreased HDL cholesterol concentration, Increased... |
OMIM:618620 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Large fleshy ears, Hypertonia, Ataxia, Motor stereotypy, Overfolded helix, Myoclonus, Tremor, Gai... |
OMIM:619092 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypertriglyceridemia, Hypocalcemia, Hypercholesterolemia |
OMIM:612526 |
Otofaciocervical Syndrome 1 |
|
Conductive hearing impairment, Cupped ear, Mixed hearing impairment, Hypoplasia of the cochlea |
OMIM:166780 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia |
OMIM:615863 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Motor stereotypy, Anteverted ears, Macrotia |
OMIM:615541 |
Protoporphyria, Erythropoietic, 1 |
|
Hypertriglyceridemia |
OMIM:177000 |
Nephrotic Syndrome, Type 2 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:600995 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Increased circulating ferritin concentration, Hypertriglyceridemia |
OMIM:603552 |
Autosomal Dominant Spastic Ataxia Type 1 |
|
Hypertonia, Limb ataxia, Babinski sign, Jerky head movements, Spastic dysarthria, Spastic paraple... |
ORPHA:251282 |
Primary Dystonia, Dyt13 Type |
|
Torticollis, Motor stereotypy, Action tremor, Jerky head movements, Involuntary movements, Postur... |
ORPHA:98807 |
Temple Syndrome |
|
Hypertriglyceridemia, Hypercholesterolemia |
OMIM:616222 |
Developmental And Epileptic Encephalopathy 58 |
|
Optic atrophy, Spastic diplegia, Motor stereotypy |
OMIM:617830 |
Lipodystrophy, Familial Partial, Type 4 |
|
Hypertriglyceridemia |
OMIM:613877 |
Branchiootorenal Syndrome 1 |
|
Sensorineural hearing impairment, Conductive hearing impairment, Dilatated internal auditory cana... |
OMIM:113650 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Motor stereotypy, Tremor, Low-set ears, Spasticity |
OMIM:618718 |
Chorea, Childhood-Onset, With Psychomotor Retardation |
|
Involuntary movements, Abnormal head movements, Chorea |
OMIM:616939 |
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities |
|
Motor stereotypy |
OMIM:617787 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Increased circulating ferritin concentration, Hypertriglyceridemia |
OMIM:613101 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia |
ORPHA:280356 |
Warsaw Breakage Syndrome |
|
Hearing impairment, Cupped ear, Hypoplasia of the cochlea, Optic disc coloboma |
OMIM:613398 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Increased circulating ferritin concentration, Hypertriglyceridemia |
OMIM:300635 |
Leber Congenital Amaurosis 1 |
|
Sensorineural hearing impairment, Eye poking, Optic disc drusen |
OMIM:204000 |
Xq21 Microdeletion Syndrome |
|
Sensorineural hearing impairment, Stapes ankylosis, Conductive hearing impairment, Dilatated inte... |
ORPHA:1435 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Motor stereotypy, Tremor, Ataxia |
OMIM:617862 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Optic atrophy, Absent brainstem auditory responses, Sensorineural hearing impairment, Temporal op... |
ORPHA:1215 |
Pontocerebellar Hypoplasia, Type 11 |
|
Motor stereotypy, Ataxia, Limb ataxia, Poor coordination, Spasticity, Macrotia |
OMIM:617695 |
Dentici-Novelli Neurodevelopmental Syndrome |
|
Motor stereotypy, Hypertonia, Hearing impairment, Macrotia |
OMIM:619877 |
Fragile X Syndrome |
|
Recurrent hand flapping, Abnormal head movements, Macrotia |
OMIM:300624 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Parkinsonism with favorable response to dopaminergic medication, Progressive extrapyramidal muscu... |
ORPHA:240103 |
Focal Segmental Glomerulosclerosis 1 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:603278 |
Lcat Deficiency |
|
Decreased circulating apolipoprotein AI concentration, Hypertriglyceridemia, Decreased HDL choles... |
ORPHA:650 |
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 |
Acrocraniofacial Dysostosis |
|
Sensorineural hearing impairment, Abnormality of the outer ear, Conductive hearing impairment, Ab... |
OMIM:201050 |
Lipodystrophy, Familial Partial, Type 5 |
|
Hypertriglyceridemia, Increased C-peptide level |
OMIM:615238 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Motor stereotypy |
OMIM:300271 |
Intellectual Developmental Disorder With Autism And Speech Delay |
|
Motor stereotypy |
OMIM:606053 |
Snijders Blok-Campeau Syndrome |
|
Motor stereotypy, Low-set ears, Speech apraxia |
OMIM:618205 |
Lipodystrophy, Familial Partial, Type 1 |
|
Hypertriglyceridemia |
OMIM:608600 |
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 |
Autism |
|
Motor stereotypy |
OMIM:209850 |
Chromosome 15Q11-Q13 Duplication Syndrome |
|
Motor stereotypy |
OMIM:608636 |
Akt2-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia, Hyperlipidemia |
ORPHA:79085 |
Waardenburg Syndrome, Type 2E |
|
Sensorineural hearing impairment, Dilated vestibule of the inner ear, Hypoplasia of the semicircu... |
OMIM:611584 |
Citrullinemia, Type Ii, Adult-Onset |
|
Hyperargininemia, Hypertriglyceridemia, Elevated plasma citrulline, Hyperammonemia |
OMIM:603471 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Motor stereotypy, Hypertonia, Cerebral palsy, Spasticity, Repetitive compulsive behavior, Low-set... |
ORPHA:352490 |
Deafness, Unilateral |
|
Unilateral deafness |
OMIM:125000 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Motor stereotypy, Ataxia |
OMIM:618709 |
Hyperlipoproteinemia, Type Id |
|
Hyperlipoproteinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased ci... |
OMIM:615947 |
Glycerol Kinase Deficiency |
|
Hypertriglyceridemia |
OMIM:307030 |
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination |
|
Motor stereotypy, Spasticity |
OMIM:617393 |
Smith-Magenis syndrome |
|
Motor stereotypy |
DECIPHER:8 |
Intellectual Developmental Disorder, Autosomal Dominant 7 |
|
Motor stereotypy, Abnormal pinna morphology, Ataxia, Stereotypical hand wringing, Macrotia, Incoo... |
OMIM:614104 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:109120 |
Xq28 (MECP2) duplication |
|
Progressive spasticity, Motor stereotypy, Gait ataxia, Macrotia |
DECIPHER:45 |
Huntington Disease-Like 1 |
|
Clumsiness, Bradykinesia, Poor fine motor coordination, Dysmetria, Jerky head movements, Simultan... |
ORPHA:157941 |
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
|
Motor stereotypy, Ataxia, Poor coordination, Chorea, Paroxysmal dyskinesia |
OMIM:619150 |
Hyperlipoproteinemia, Type I |
|
Lactescent serum, Increased circulating chylomicron concentration, Hyperlipidemia, Hypercholester... |
OMIM:238600 |
Guanidinoacetate Methyltransferase Deficiency |
|
Ataxia, Chorea, Progressive extrapyramidal movement disorder, Athetosis, Abnormal head movements,... |
ORPHA:382 |
Developmental And Epileptic Encephalopathy 107 |
|
Motor stereotypy |
OMIM:620033 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Increased circulating ferritin concentration, Hypertriglyceridemia |
OMIM:618398 |
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Sensorineural hearing impairment, Motor stereotypy, Protruding ear, Tremor, Low-set ears |
OMIM:618342 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Optic atrophy, Tremor, Motor stereotypy, Spastic tetraparesis |
OMIM:619470 |
Cortical Dysplasia, Complex, With Other Brain Malformations 2 |
|
Motor stereotypy, Hypertonia, Spastic tetraplegia |
OMIM:615282 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Sensorineural hearing impairment, Cerebral atrophy, Brain atrophy, Optic disc pallor, Abnormal au... |
OMIM:619260 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Motor stereotypy, Macrotia |
OMIM:618504 |
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter |
|
Motor stereotypy, Abnormal pinna morphology, Optic atrophy, Gait ataxia, Spasticity |
OMIM:617807 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypertriglyceridemia, Hypoalbuminemia |
OMIM:619013 |
Intellectual Developmental Disorder, Autosomal Recessive 58 |
|
Motor stereotypy, Spastic diplegia, Choreoathetosis |
OMIM:617270 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentra... |
ORPHA:567548 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Large earlobe, Prominent ear helix, Myoclonus, Motor stereotypy |
ORPHA:411986 |
N-Acetylaspartate Deficiency |
|
Motor stereotypy, Truncal ataxia |
OMIM:614063 |
Cidec-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia, Hyperlipidemia |
ORPHA:435651 |
Lipodystrophy, Familial Partial, Type 3 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hyperuricemia |
OMIM:604367 |
Christianson Syndrome |
|
Motor stereotypy, Gait ataxia, Truncal ataxia, Macrotia |
ORPHA:85278 |
4Q21 Microdeletion Syndrome |
|
Motor stereotypy, Hearing impairment, Low-set ears, Tremor |
ORPHA:238750 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hypertriglyceridemia |
ORPHA:363400 |
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive |
|
Motor stereotypy, Involuntary movements, Spasticity |
OMIM:617820 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Increased circulating ferritin concentration, Hypoproteinemia, Increased LDL cholesterol concentr... |
OMIM:267700 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hyperlysinemia, Hyperbilirubinemia, Increased LDL cholesterol concentration, Abnormal circulating... |
ORPHA:247598 |
Smith-Magenis Syndrome |
|
Hypertriglyceridemia, Hypercholesterolemia |
OMIM:182290 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Motor stereotypy, Hyperkinetic movements, Tremor, Macrotia, Upper limb spasticity |
ORPHA:457240 |
Citrullinemia Type Ii |
|
Acute hyperammonemia, Hyperlipidemia, Hypoproteinemia, Decreased HDL cholesterol concentration, H... |
ORPHA:247585 |
Distal Monosomy 10Q |
|
Facial diplegia, Protruding ear, Cochlear malformation, Congenital sensorineural hearing impairme... |
ORPHA:96148 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Sensorineural hearing impairment, Incomplete partition of the cochlea type II |
OMIM:617660 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Increased circulating ferritin concentration, Hypertriglyceridemia, Elevated circulating C-reacti... |
ORPHA:158057 |
Baker-Gordon Syndrome |
|
Motor stereotypy, Ataxia, Hyperkinetic movements, Choreoathetosis, Involuntary movements |
OMIM:618218 |
Coffin-Siris Syndrome 6 |
|
Motor stereotypy, Conductive hearing impairment, Tics, Low-set, posteriorly rotated ears |
OMIM:617808 |
Lipe-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia, Hyperlipidemia, Elevated circulating creatine kinase concentration |
ORPHA:435660 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Hypoplasia of the semicirc... |
OMIM:609136 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia |
ORPHA:209902 |
Ataxia With Vitamin E Deficiency |
|
Hypertriglyceridemia, Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:277460 |
Intellectual Developmental Disorder, Autosomal Dominant 34 |
|
Motor stereotypy, Hearing impairment |
OMIM:616351 |
Brunet-Wagner Neurodevelopmental Syndrome |
|
Optic atrophy, Motor stereotypy |
OMIM:619690 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Diffuse cerebral atrophy, Absent brainstem auditory responses, Vestibular areflexia |
ORPHA:3240 |
Hydroxykynureninuria |
|
Motor stereotypy, Hypertonia, Congenital sensorineural hearing impairment |
ORPHA:79155 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hyperlipidemia, Hyperuricemia |
ORPHA:364 |
Coffin-Siris Syndrome 7 |
|
Motor stereotypy, Low-set ears, Macrotia, Recurrent otitis media, Hearing impairment, Posteriorly... |
OMIM:618027 |
Nephrotic Syndrome, Type 14 |
|
Hypertriglyceridemia, Hypoalbuminemia |
OMIM:617575 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Sensorineural hearing impairment, Motor stereotypy, Congenital sensorineural hearing impairment, ... |
ORPHA:500159 |
Hyperprolinemia, Type I |
|
Motor stereotypy, Ataxia |
OMIM:239500 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Sensorineural hearing impairment, Low-set ears, Motor stereotypy, Recurrent otitis media |
OMIM:617751 |
Dysbetalipoproteinemia |
|
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... |
ORPHA:412 |
Lysosomal Acid Lipase Deficiency |
|
Increased LDL cholesterol concentration, Steatorrhea, Decreased HDL cholesterol concentration, Hy... |
OMIM:278000 |
Glycogen Storage Disease Ixc |
|
Hypertriglyceridemia |
OMIM:613027 |
Developmental And Epileptic Encephalopathy 30 |
|
Motor stereotypy |
OMIM:616341 |
Congenital Generalized Lipodystrophy |
|
Hypertriglyceridemia, Increased C-peptide level, Hypercholesterolemia |
ORPHA:528 |
Acute Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
ORPHA:529799 |
Chronic Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
ORPHA:529808 |
Huntington Disease-Like 3 |
|
Extrapyramidal muscular rigidity, Extrapyramidal dyskinesia, Abnormal pyramidal sign, Chorea, Spa... |
ORPHA:157946 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hyperlipidemia, Mildly elevated creatine kinase |
OMIM:604484 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Hypertriglyceridemia |
OMIM:615381 |
Foxg1 Syndrome |
|
Motor stereotypy, Myoclonus, Hyperkinetic movements, Stereotypical hand wringing, Choreoathetosis... |
ORPHA:561854 |
Macrophage Activation Syndrome |
|
Increased circulating ferritin concentration, Hypertriglyceridemia, Elevated circulating C-reacti... |
ORPHA:158061 |
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 |
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Motor stereotypy, Speech apraxia |
OMIM:613670 |
Cholestasis-Lymphedema Syndrome |
|
Hyperlipidemia, Conjugated hyperbilirubinemia |
OMIM:214900 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Increased LDL cholester... |
ORPHA:98855 |
Alazami Syndrome |
|
Motor stereotypy, Low-set ears, Stereotypical hand wringing |
ORPHA:319671 |
Late-Infantile/Juvenile Krabbe Disease |
|
EEG with persistent abnormal rhythmic activity, Decreased nerve conduction velocity, Prolonged br... |
ORPHA:206443 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Motor stereotypy, Low-set ears, Bilateral conductive hearing impairment |
OMIM:617802 |
Ogden Syndrome |
|
Torticollis, Hypertonia, Abnormal head movements, Macrotia, Low-set ears |
ORPHA:276432 |
Severe Intellectual Disability And Progressive Spastic Paraplegia |
|
Motor stereotypy, Babinski sign, Spastic dysarthria, Progressive spastic paraplegia, Spasticity |
ORPHA:280763 |
Apert Syndrome |
|
Sensorineural hearing impairment, Conductive hearing impairment, Optic atrophy, Morphological abn... |
ORPHA:87 |
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Motor stereotypy, Macrotia |
ORPHA:391307 |
Mandibuloacral Dysplasia |
|
Hypertriglyceridemia, Hypercholesterolemia, Increased circulating free fatty acid level |
ORPHA:2457 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Motor stereotypy, Ataxia, Rigidity, Chorea, Progressive spasticity, Repetitive compulsive behavio... |
OMIM:300260 |
Cri-Du-Chat Syndrome |
|
Motor stereotypy, Hypertonia, Abnormal pinna morphology, Stenosis of the external auditory canal,... |
OMIM:123450 |
Autosomal Recessive Non-Syndromic Intellectual Disability |
|
Motor stereotypy, Spasticity, Chorea |
ORPHA:88616 |
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Motor stereotypy, Ataxia, Bradykinesia, Resting tremor, Intention tremor, Myoclonus, Parkinsonism... |
OMIM:619725 |
Potocki-Lupski Syndrome |
|
Motor stereotypy, Hearing impairment |
OMIM:610883 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Increased LDL cholester... |
ORPHA:98863 |
Emery-Dreifuss Muscular Dystrophy |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Increased LDL cholester... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Increased LDL cholester... |
ORPHA:98853 |
Developmental And Epileptic Encephalopathy 6B |
|
Motor stereotypy, Ataxia, Myoclonus, Hyperkinetic movements, Chorea, Choreoathetosis |
OMIM:619317 |
Smith-Magenis Syndrome |
|
Hypertriglyceridemia, Hypercholesterolemia |
ORPHA:819 |
22Q11.2 Duplication Syndrome |
|
Motor stereotypy, Hearing impairment, Anterior creases of earlobe |
ORPHA:1727 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Increased circulating ferritin concentration, Hypertriglyceridemia |
OMIM:619313 |
Pparg-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia, Hyperuricemia |
ORPHA:79083 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypertriglyceridemia |
ORPHA:66628 |
Glycogen Storage Disease Iii |
|
Hyperlipidemia, Elevated circulating creatine kinase concentration |
OMIM:232400 |
Arthrogryposis, Distal, Type 2A |
|
Hearing impairment, Cerebellar atrophy, Abnormal auditory evoked potentials |
OMIM:193700 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Abnormal antihelix morphology, Protruding ear, Motor stereotypy |
ORPHA:261144 |
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Motor stereotypy, Stereotypical hand wringing, Chorea, Gait ataxia, Spasticity |
OMIM:618917 |
Chromosome 5P13 Duplication Syndrome |
|
Motor stereotypy, Low-set ears |
OMIM:613174 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Sensorineural hearing impairment, Abnormal autonomic nervous system physiology, Orthostatic hypot... |
ORPHA:99027 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Motor stereotypy, Hypertonia, Cupped ear, Cerebral palsy |
OMIM:618914 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Hypertriglyceridemia |
ORPHA:2348 |
Charcot-Marie-Tooth Disease Type 1F |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Cervical spinal cord atrop... |
ORPHA:101085 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypertriglyceridemia |
ORPHA:179494 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
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Increased circulating ferritin concentration, Hypoproteinemia, Hypertriglyceridemia, Increased to... |
OMIM:603553 |
Inverted Duplicated Chromosome 15 Syndrome |
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Motor stereotypy, Low-set, posteriorly rotated ears |
ORPHA:3306 |
Lipodystrophy, Familial Partial, Type 6 |
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Hyperlipidemia, Elevated circulating creatine kinase concentration, Abnormal circulating lipid co... |
OMIM:615980 |
Diarrhea 10, Protein-Losing Enteropathy Type |
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Hypomagnesemia, Hypocalcemia, Hypertriglyceridemia, Hypoalbuminemia, Hyponatremia |
OMIM:618183 |
Adult Krabbe Disease |
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EEG abnormality, Prolonged brainstem auditory evoked potentials |
ORPHA:206448 |
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features |
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Motor stereotypy, Incoordination, Low-set ears, Gait ataxia |
OMIM:616579 |
Familial Hemophagocytic Lymphohistiocytosis |
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Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia |
ORPHA:540 |
Proximal 16P11.2 Microdeletion Syndrome |
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Sensorineural hearing impairment, Conductive hearing impairment, Motor stereotypy, Speech apraxia... |
ORPHA:261197 |
Radio-Tartaglia Syndrome |
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Large earlobe, Low-set ears, Conductive hearing impairment, Ataxia, Motor stereotypy, Tremor, Hea... |
OMIM:619312 |
Intellectual Developmental Disorder, Autosomal Dominant 52 |
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Sensorineural hearing impairment, Low-set ears, Asymmetry of the ears, Motor stereotypy |
OMIM:617796 |
Griscelli Syndrome Type 1 |
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Hyperlipidemia |
ORPHA:79476 |
Pyruvate Dehydrogenase E2 Deficiency |
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Choreoathetosis, Oculomotor apraxia, Ataxia, Jerky head movements |
OMIM:245348 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
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Sensorineural hearing impairment, Torticollis, Motor stereotypy, Abnormal autonomic nervous syste... |
ORPHA:300570 |
Infantile Krabbe Disease |
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Decreased nerve conduction velocity, Optic atrophy, Diffuse cerebral atrophy, Hearing impairment,... |
ORPHA:206436 |
Rett Syndrome, Congenital Variant |
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Motor stereotypy, Protruding ear, Tongue thrusting, Chorea, Athetosis, Spasticity, Apraxia |
OMIM:613454 |
48,Xxyy Syndrome |
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Motor stereotypy, Tremor, Ataxia, Chronic otitis media |
ORPHA:10 |
Ritscher-Schinzel Syndrome 4 |
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Motor stereotypy, Ataxia, Chorea, Athetosis, Macrotia |
OMIM:619435 |
Immunodeficiency 97 With Autoinflammation |
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Increased circulating ferritin concentration, Hypertriglyceridemia |
OMIM:619802 |
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
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Motor stereotypy, Babinski sign, Spasticity |
OMIM:612069 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
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Motor stereotypy, Gait ataxia, Spasticity, Macrotia |
OMIM:300486 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
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Hypertriglyceridemia, Hypercholesterolemia |
OMIM:610644 |
Autosomal Recessive Ataxia Due To Pex10 Deficiency |
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Progressive cerebellar ataxia, Limb ataxia, Abnormal pyramidal sign, Truncal ataxia, Abnormal hea... |
ORPHA:247815 |
Alstrom Syndrome |
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Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hyperuricemia |
OMIM:203800 |
Macrocephaly-Developmental Delay Syndrome |
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Abnormal speech discrimination, Motor stereotypy |
ORPHA:397612 |
Megalocornea-Intellectual Disability Syndrome |
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Sensorineural hearing impairment, Protruding ear, Motor stereotypy, Ataxia |
ORPHA:2479 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
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Motor stereotypy, Myoclonus, Babinski sign, Rigidity |
OMIM:600795 |
Familial Chylomicronemia Syndrome |
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Hypertriglyceridemia, Increased circulating chylomicron concentration, Hyperlipidemia |
ORPHA:444490 |
Fanconi-Bickel Syndrome |
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Hypertriglyceridemia, Hypophosphatemia |
ORPHA:2088 |
Schinzel-Giedion Syndrome |
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Large earlobe, Cerebral cortical atrophy, Abnormal helix morphology, Infantile sensorineural hear... |
ORPHA:798 |
Ocular Motor Apraxia |
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Oculomotor apraxia, Jerky head movements |
OMIM:257550 |
Cerebral Creatine Deficiency Syndrome 1 |
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Motor stereotypy, Hypertonia, Underfolded superior helices, Speech apraxia, Spasticity, Aganglion... |
OMIM:300352 |
Juvenile Neuronal Ceroid Lipofuscinosis |
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Motor stereotypy, Clumsiness, Poor fine motor coordination, Parkinsonism, Myoclonic spasms, Optic... |
ORPHA:79264 |
Xp21 Deletion Syndrome |
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Hypertriglyceridemia, Elevated circulating creatine kinase concentration |
ORPHA:261476 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
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Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Hypercholesterolemia |
ORPHA:79240 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
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Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Hypercholesterolemia |
ORPHA:370 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
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Motor stereotypy, Ataxia, Cataplexy, Optic atrophy, Progressive spasticity, Spasticity, Macrotia,... |
ORPHA:496641 |
Autism, Susceptibility To, X-Linked 2 |
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Motor stereotypy |
OMIM:300495 |
3P25.3 Microdeletion Syndrome |
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Sensorineural hearing impairment, Abnormality of the outer ear, Ataxia, Motor stereotypy |
ORPHA:435638 |
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
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Motor stereotypy, Hypertonia, Babinski sign, Prominent antihelix, Spasticity, Macrotia |
OMIM:615802 |
Blepharophimosis-Impaired Intellectual Development Syndrome |
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Motor stereotypy, Low-set ears, Posteriorly rotated ears |
OMIM:619293 |
Kleefstra Syndrome 1 |
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Motor stereotypy, Hearing impairment, Abnormal pinna morphology |
OMIM:610253 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
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Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Hypercholesterolemia |
ORPHA:264580 |
Behavioral Variant Of Frontotemporal Dementia |
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Motor stereotypy, Fasciculations, Upper motor neuron dysfunction, Abnormality of extrapyramidal m... |
ORPHA:275864 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
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Motor stereotypy, Recurrent otitis media, Recurrent hand flapping, Macrotia |
ORPHA:449291 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
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Overfolded helix, Tremor, Motor stereotypy, Macrotia |
OMIM:617061 |
Neutral Lipid Storage Disease With Ichthyosis |
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Abnormal circulating creatine kinase concentration, Hypertriglyceridemia |
ORPHA:98907 |
Werner Syndrome |
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Hypertriglyceridemia, Elevated hemoglobin A1c |
OMIM:277700 |
Jeavons Syndrome |
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Limb myoclonus, Abnormal head movements |
ORPHA:139431 |
Obesity, Hyperphagia, And Developmental Delay |
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Motor stereotypy |
OMIM:613886 |
Transketolase Deficiency |
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Motor stereotypy, Hearing impairment |
ORPHA:488618 |
Lipodystrophy, Congenital Generalized, Type 4 |
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Hypertriglyceridemia, Elevated circulating creatine kinase concentration |
OMIM:613327 |
Acquired Generalized Lipodystrophy |
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Hypertriglyceridemia, Abnormal circulating lipid concentration |
ORPHA:79086 |
Intellectual Developmental Disorder, X-Linked 98 |
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Motor stereotypy, Ataxia, Recurrent hand flapping, Stereotypical body rocking, Stereotypical hand... |
OMIM:300912 |
Congenital Disorder Of Glycosylation, Type Iia |
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Sensorineural hearing impairment, Hypertonia, Motor stereotypy, Macrotia, Posteriorly rotated ears |
OMIM:212066 |
Trisomy 10P |
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EEG with focal spikes, Abnormality of the ear, EEG with burst suppression, Low voltage EEG, Abnor... |
ORPHA:171929 |
Helsmoortel-Van Der Aa Syndrome |
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Motor stereotypy, Low-set, posteriorly rotated ears |
OMIM:615873 |
Lysinuric Protein Intolerance |
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Increased circulating ferritin concentration, Increased LDL cholesterol concentration, Steatorrhe... |
ORPHA:470 |
White-Sutton Syndrome |
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Sensorineural hearing impairment, Motor stereotypy, Optic nerve hypoplasia, Tics, Abnormality of ... |
OMIM:616364 |
Cockayne Syndrome Type 1 |
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Absent brainstem auditory responses, Optic atrophy, Macrotia, Abnormality of peripheral nerve con... |
ORPHA:90321 |
Rauch-Steindl Syndrome |
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Motor stereotypy, Protruding ear, Prominent crus of helix, Attached earlobe |
OMIM:619695 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
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Hypertriglyceridemia, Decreased HDL cholesterol concentration |
ORPHA:280365 |
Norrie Disease |
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Sensorineural hearing impairment, Protruding ear, Cerebral cortical atrophy, Abnormal helix morph... |
ORPHA:649 |
Pick Disease Of Brain |
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Motor stereotypy |
OMIM:172700 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
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Hypertriglyceridemia |
OMIM:617591 |
Kohlschutter-Tonz Syndrome-Like |
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Motor stereotypy, Ataxia, Myoclonus, Stereotypical hand wringing, Tremor, Spasticity, Upper limb ... |
OMIM:619229 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
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Motor stereotypy, Low-set ears |
OMIM:619103 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
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Motor stereotypy, Recurrent hand flapping, Myoclonus, Cerebral palsy, Chorea |
OMIM:617600 |
Phelan-Mcdermid Syndrome |
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Motor stereotypy, Protruding ear, Tongue thrusting, Macrotia, Hearing impairment |
OMIM:606232 |
Nephrotic Syndrome, Type 1 |
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Hyperlipidemia, Hypoalbuminemia, Hypoproteinemia |
OMIM:256300 |
Lipodystrophy, Familial Partial, Type 2 |
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Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:151660 |
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures |
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Motor stereotypy, Spastic ataxia |
OMIM:618906 |
Lamb-Shaffer Syndrome |
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Optic atrophy, Upper motor neuron dysfunction, Ataxia, Motor stereotypy |
ORPHA:530983 |
Intellectual Developmental Disorder, Autosomal Recessive 41 |
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Motor stereotypy |
OMIM:615637 |
Congenital Analbuminemia |
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Hyperlipidemia, Hypoproteinemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia |
ORPHA:86816 |
Cerebrotendinous Xanthomatosis |
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Optic neuropathy, Abnormal motor evoked potentials, Decreased nerve conduction velocity, Axonal d... |
ORPHA:909 |
Gaisböck Syndrome |
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Hyperproteinemia, Increased circulating renin level, Hypertriglyceridemia, Hyperuricemia, Hyperch... |
ORPHA:90041 |
X-Linked Intellectual Disability, Cantagrel Type |
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Motor stereotypy, Tetraparesis |
ORPHA:85277 |
Mogs-Cdg |
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Optic atrophy, Absent brainstem auditory responses, Sensorineural hearing impairment |
ORPHA:79330 |
5Q14.3 Microdeletion Syndrome |
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Motor stereotypy, Optic nerve hypoplasia |
ORPHA:228384 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
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Sensorineural hearing impairment, Limb hypertonia, Motor stereotypy, Spasticity |
ORPHA:457351 |
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
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Motor stereotypy, Hypertonia, Protruding ear, Myoclonic spasms, Clonus, Low-set ears, Lower limb ... |
ORPHA:447997 |
2Q37 Microdeletion Syndrome |
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Motor stereotypy, Conductive hearing impairment |
ORPHA:1001 |
Seckel Syndrome 10 |
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Hypertriglyceridemia, Elevated hemoglobin A1c |
OMIM:617253 |
Lysosomal Acid Lipase Deficiency |
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Steatorrhea, Hypertriglyceridemia, Hyponatremia, Xanthelasma, Hyperkalemia, Hypercholesterolemia |
ORPHA:275761 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
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Hypertriglyceridemia, Hypercalcemia |
ORPHA:369837 |
H Syndrome |
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Hypertriglyceridemia |
ORPHA:168569 |
Noonan Syndrome |
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Thickened helices, Sensorineural hearing impairment, Aplasia of the semicircular canal, Low-set, ... |
ORPHA:648 |
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities |
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