Deafness, Aminoglycoside-Induced |
|
Aminoglycoside-induced hearing loss |
OMIM:580000 |
Deafness, Autosomal Recessive 102 |
|
Profound hearing impairment |
OMIM:615974 |
Deafness, Autosomal Recessive 91 |
|
Progressive hearing impairment |
OMIM:613453 |
Deafness, Autosomal Dominant 18 |
|
Progressive hearing impairment |
OMIM:606012 |
Deafness, Autosomal Dominant 17 |
|
High-frequency hearing impairment |
OMIM:603622 |
Deafness, Autosomal Dominant 7 |
|
High-frequency hearing impairment |
OMIM:601412 |
Deafness, Autosomal Dominant 2B |
|
High-frequency hearing impairment |
OMIM:612644 |
Deafness, Autosomal Recessive 65 |
|
Hearing impairment |
OMIM:610248 |
Deafness, Autosomal Dominant 89 |
|
Hearing impairment |
OMIM:620284 |
Deafness, Autosomal Dominant 88 |
|
Hearing impairment |
OMIM:620283 |
Deafness, Autosomal Recessive 86 |
|
Hearing impairment |
OMIM:614617 |
Deafness, Autosomal Dominant 24 |
|
Hearing impairment |
OMIM:606282 |
Deafness, Autosomal Recessive 6 |
|
Hearing impairment |
OMIM:600971 |
Deafness, Autosomal Dominant 51 |
|
Hearing impairment |
OMIM:613558 |
Deafness, Autosomal Recessive 33 |
|
Hearing impairment |
OMIM:607239 |
Deafness, Autosomal Recessive 96 |
|
Hearing impairment |
OMIM:614414 |
Deafness, Autosomal Recessive 93 |
|
Hearing impairment |
OMIM:614899 |
Tune Deafness |
|
Hearing impairment |
OMIM:191200 |
Deafness, Autosomal Dominant 15 |
|
Hearing impairment |
OMIM:602459 |
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 84A |
|
Abnormal vestibular function, Hearing impairment |
OMIM:613391 |
Deafness, Autosomal Recessive 1B |
|
Abnormal vestibular function, Hearing impairment |
OMIM:612645 |
Deafness, Autosomal Dominant 65 |
|
Abnormal vestibular function, Progressive hearing impairment |
OMIM:616044 |
Deafness, Autosomal Recessive 25 |
|
Progressive sensorineural hearing impairment, Hearing impairment |
OMIM:613285 |
Deafness, Autosomal Recessive 30 |
|
Progressive sensorineural hearing impairment, Progressive hearing impairment |
OMIM:607101 |
Deafness, Autosomal Recessive 29 |
|
Sensorineural hearing impairment, Hearing impairment |
OMIM:614035 |
Deafness, Autosomal Recessive 20 |
|
Sensorineural hearing impairment, Hearing impairment |
OMIM:604060 |
Deafness, Autosomal Recessive 13 |
|
Sensorineural hearing impairment, Hearing impairment |
OMIM:603098 |
Deafness, Autosomal Recessive 57 |
|
Sensorineural hearing impairment, Hearing impairment |
OMIM:618003 |
Auditory Neuropathy, Autosomal Dominant 1 |
|
Abnormal speech discrimination, Sensorineural hearing impairment, Absence of acoustic reflex, Abn... |
OMIM:609129 |
Deafness, Autosomal Dominant 49 |
|
Sensorineural hearing impairment, Progressive hearing impairment |
OMIM:608372 |
Deafness, X-Linked 4 |
|
Sensorineural hearing impairment, High-frequency hearing impairment |
OMIM:300066 |
Deafness, Mid-Tone Neural |
|
Sensorineural hearing impairment, Progressive hearing impairment |
OMIM:124700 |
Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex |
OMIM:601071 |
Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment, Abnormal vestib... |
OMIM:616515 |
Deafness, Autosomal Recessive 110 |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:618094 |
Deafness, Autosomal Dominant 81 |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:619500 |
Deafness, Autosomal Recessive 7 |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:600974 |
Deafness, Autosomal Dominant 56 |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:615629 |
Deafness, Autosomal Recessive 1A |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:220290 |
Deafness, Autosomal Dominant 71 |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:617605 |
Deafness, Autosomal Dominant 74 |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:618140 |
Deafness, Autosomal Dominant 6 |
|
Progressive sensorineural hearing impairment, Low-frequency sensorineural hearing impairment |
OMIM:600965 |
Deafness, Autosomal Dominant 20 |
|
Progressive sensorineural hearing impairment, Bilateral sensorineural hearing impairment |
OMIM:604717 |
Deafness, Autosomal Recessive 77 |
|
Bilateral sensorineural hearing impairment |
OMIM:613079 |
Deafness, Autosomal Recessive 63 |
|
Congenital sensorineural hearing impairment |
OMIM:611451 |
Deafness, Autosomal Dominant 31 |
|
Old-aged sensorineural hearing impairment |
OMIM:608645 |
Deafness, Autosomal Recessive 109 |
|
Congenital sensorineural hearing impairment |
OMIM:618013 |
Deafness, Autosomal Dominant 83 |
|
Bilateral sensorineural hearing impairment |
OMIM:619808 |
Deafness, X-Linked 3 |
|
Congenital sensorineural hearing impairment |
OMIM:300030 |
Deafness, Autosomal Dominant 3B |
|
Adult onset sensorineural hearing impairment |
OMIM:612643 |
Deafness, Autosomal Recessive 15 |
|
Sensorineural hearing impairment, Prelingual sensorineural hearing impairment |
OMIM:601869 |
Deafness, Autosomal Recessive 79 |
|
Progressive sensorineural hearing impairment, Sensorineural hearing impairment |
OMIM:613307 |
Deafness, Autosomal Dominant 22 |
|
Progressive sensorineural hearing impairment, Sensorineural hearing impairment |
OMIM:606346 |
Deafness, Sensorineural, Autosomal-Mitochondrial Type |
|
Progressive sensorineural hearing impairment, Sensorineural hearing impairment |
OMIM:221745 |
Deafness, Autosomal Recessive 67 |
|
Sensorineural hearing impairment, Bilateral sensorineural hearing impairment |
OMIM:610265 |
Deafness, Autosomal Dominant 73 |
|
Sensorineural hearing impairment |
OMIM:617663 |
Deafness, Autosomal Dominant 69 |
|
Sensorineural hearing impairment |
OMIM:616697 |
Deafness, Autosomal Recessive 61 |
|
Sensorineural hearing impairment |
OMIM:613865 |
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 13 |
|
Sensorineural hearing impairment |
OMIM:601868 |
Deafness, Autosomal Recessive 117 |
|
Sensorineural hearing impairment |
OMIM:619174 |
Deafness, Autosomal Recessive 22 |
|
Sensorineural hearing impairment |
OMIM:607039 |
Deafness, Autosomal Recessive 113 |
|
Sensorineural hearing impairment |
OMIM:618410 |
Deafness, Autosomal Dominant 40 |
|
Sensorineural hearing impairment |
OMIM:616357 |
Deafness, Autosomal Dominant 27 |
|
Sensorineural hearing impairment |
OMIM:612431 |
Deafness, Autosomal Dominant 37 |
|
Sensorineural hearing impairment |
OMIM:618533 |
Deafness, Autosomal Dominant 75 |
|
Sensorineural hearing impairment |
OMIM:618778 |
Neuropathy, Hereditary Motor And Sensory, With Deafness, Impaired Intellectual Development, And Absent Sensory Large Myelinated Fibers |
|
Sensorineural hearing impairment |
OMIM:214370 |
Deafness, Autosomal Recessive 100 |
|
Sensorineural hearing impairment |
OMIM:618422 |
Deafness, Autosomal Recessive 98 |
|
Sensorineural hearing impairment |
OMIM:614861 |
Deafness, Autosomal Dominant 76 |
|
Sensorineural hearing impairment |
OMIM:618787 |
Deafness, Autosomal Dominant 21 |
|
Sensorineural hearing impairment |
OMIM:607017 |
Deafness, Autosomal Recessive 116 |
|
Sensorineural hearing impairment |
OMIM:619093 |
Deafness, Autosomal Dominant 68 |
|
Sensorineural hearing impairment |
OMIM:616707 |
Deafness, Autosomal Recessive 97 |
|
Sensorineural hearing impairment |
OMIM:616705 |
Deafness, Autosomal Recessive 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 23 |
|
Sensorineural hearing impairment |
OMIM:609533 |
Deafness, Autosomal Recessive 42 |
|
Sensorineural hearing impairment |
OMIM:609646 |
Intellectual Developmental Disorder, X-Linked 46 |
|
Sensorineural hearing impairment |
OMIM:300436 |
Deafness, Autosomal Dominant 66 |
|
Sensorineural hearing impairment |
OMIM:616969 |
Deafness, Autosomal Dominant 44 |
|
Sensorineural hearing impairment |
OMIM:607453 |
Deafness, Autosomal Recessive 99 |
|
Sensorineural hearing impairment |
OMIM:618481 |
Deafness, Autosomal Dominant 47 |
|
Sensorineural hearing impairment |
OMIM:608652 |
Deafness, Autosomal Recessive 27 |
|
Sensorineural hearing impairment |
OMIM:605818 |
Deafness, Autosomal Recessive 112 |
|
Sensorineural hearing impairment |
OMIM:618257 |
Deafness, Autosomal Dominant 28 |
|
Sensorineural hearing impairment |
OMIM:608641 |
Deafness, Autosomal Recessive 68 |
|
Sensorineural hearing impairment |
OMIM:610419 |
Deafness, Neural, Congenital Moderate |
|
Sensorineural hearing impairment |
OMIM:221500 |
Deafness, Autosomal Dominant 53 |
|
Sensorineural hearing impairment |
OMIM:609965 |
Deafness, Autosomal Recessive 21 |
|
Sensorineural hearing impairment |
OMIM:603629 |
Deafness, Autosomal Dominant 30 |
|
Sensorineural hearing impairment |
OMIM:606451 |
Deafness, Autosomal Recessive 18A |
|
Sensorineural hearing impairment |
OMIM:602092 |
Deafness, Y-Linked 2 |
|
Sensorineural hearing impairment |
OMIM:400047 |
Deafness, Autosomal Dominant 10 |
|
Sensorineural hearing impairment |
OMIM:601316 |
Deafness, Autosomal Recessive 120 |
|
Sensorineural hearing impairment |
OMIM:620238 |
Deafness, Autosomal Recessive 53 |
|
Sensorineural hearing impairment |
OMIM:609706 |
Deafness, Autosomal Dominant 3A |
|
Sensorineural hearing impairment |
OMIM:601544 |
Deafness, Autosomal Recessive 16 |
|
Sensorineural hearing impairment |
OMIM:603720 |
Deafness, Autosomal Dominant 12 |
|
Sensorineural hearing impairment |
OMIM:601543 |
Deafness, Autosomal Recessive 31 |
|
Sensorineural hearing impairment |
OMIM:607084 |
Deafness, Autosomal Dominant 84 |
|
Sensorineural hearing impairment |
OMIM:619810 |
Deafness, Autosomal Dominant 25 |
|
Sensorineural hearing impairment |
OMIM:605583 |
Deafness, Autosomal Recessive 51 |
|
Sensorineural hearing impairment |
OMIM:609941 |
Deafness, X-Linked 1 |
|
Sensorineural hearing impairment |
OMIM:304500 |
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 |
Meniere Disease |
|
Vertigo, Tinnitus, Hearing impairment |
OMIM:156000 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Neural tube defect |
OMIM:615041 |
Deafness, Autosomal Dominant 58 |
|
Tinnitus, Hearing impairment |
OMIM:615654 |
Deafness, Autosomal Dominant 2A |
|
Tinnitus, Hearing impairment |
OMIM:600101 |
Deafness, Autosomal Dominant 50 |
|
Progressive sensorineural hearing impairment, Sensorineural hearing impairment, Progressive heari... |
OMIM:613074 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials |
OMIM:601382 |
Optic Atrophy 8 |
|
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... |
OMIM:616648 |
Non-Syndromic Genetic Deafness |
|
Moderate hearing impairment, Low-frequency sensorineural hearing impairment, Conductive hearing i... |
ORPHA:87884 |
Lambert Syndrome |
|
Intrauterine growth retardation, Branchial anomaly, Ventricular septal defect |
ORPHA:1296 |
Deafness, Autosomal Dominant 87 |
|
Enlarged vestibular aqueduct, Hearing impairment, Incomplete partition of the cochlea type II |
OMIM:620281 |
Deafness, Autosomal Dominant 86 |
|
Abnormal vestibular function, Sensorineural hearing impairment, Tinnitus |
OMIM:620280 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal motor evoked potentials, Sensorineural hearing impairment, Abnormal auditory evoked pote... |
ORPHA:320401 |
Deafness, Autosomal Dominant 64 |
|
Sensorineural hearing impairment, Tinnitus |
OMIM:614152 |
Deafness, Autosomal Dominant 67 |
|
Sensorineural hearing impairment, Tinnitus |
OMIM:616340 |
Deafness, Autosomal Dominant 36 |
|
Sensorineural hearing impairment, Tinnitus |
OMIM:606705 |
Deafness, Autosomal Dominant 77 |
|
Sensorineural hearing impairment, Tinnitus |
OMIM:618915 |
Deafness, Autosomal Dominant 33 |
|
Sensorineural hearing impairment, Tinnitus |
OMIM:614211 |
Deafness, Autosomal Dominant 72 |
|
Sensorineural hearing impairment, Tinnitus |
OMIM:617606 |
Deafness, Y-Linked 1 |
|
Sensorineural hearing impairment, Tinnitus |
OMIM:400043 |
Deafness, Autosomal Dominant 82 |
|
Sensorineural hearing impairment, Tinnitus |
OMIM:619804 |
Deafness, Autosomal Dominant 43 |
|
Sensorineural hearing impairment, Tinnitus |
OMIM:608394 |
Ravine Syndrome |
|
Abnormal auditory evoked potentials, Atrophy/Degeneration affecting the brainstem |
ORPHA:99852 |
Deafness, Autosomal Dominant 41 |
|
Progressive sensorineural hearing impairment, Tinnitus |
OMIM:608224 |
Deafness, Autosomal Dominant 16 |
|
Adult onset sensorineural hearing impairment, Tinnitus |
OMIM:603964 |
Verheij Syndrome |
|
Branchial cyst, Ventricular septal defect, Short stature, Short neck, Clinodactyly, Growth delay,... |
OMIM:615583 |
Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
Otosclerosis 7 |
|
Otosclerosis, Progressive hearing impairment, Conductive hearing impairment, Abnormality of the a... |
OMIM:611572 |
X-Linked Mandibulofacial Dysostosis |
|
Low-set, posteriorly rotated ears, Short stature, Conductive hearing impairment, Sensorineural he... |
ORPHA:1131 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials |
OMIM:125250 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Facial palsy, EEG abnormality |
OMIM:617519 |
Abcd Syndrome |
|
Total intestinal aganglionosis, Aganglionic megacolon, Abnormal auditory evoked potentials, Heari... |
OMIM:600501 |
Branchiogenic-Deafness Syndrome |
|
Branchial cyst, Branchial fistula, Mixed hearing impairment, Short stature, Abnormality of the mi... |
OMIM:609166 |
Branchiootic Syndrome 1 |
|
Branchial fistula, Mixed hearing impairment, Dilatated internal auditory canal, Sensorineural hea... |
OMIM:602588 |
Branchiogenic Deafness Syndrome |
|
Branchial cyst, Branchial fistula, Mixed hearing impairment, Abnormal pinna morphology, Short sta... |
ORPHA:50815 |
Vestibulocochlear Dysfunction, Progressive |
|
Vestibular areflexia, Tinnitus, Progressive hearing impairment |
OMIM:193005 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... |
OMIM:601596 |
Spina Bifida-Hypospadias Syndrome |
|
Spina bifida, Spinal dysraphism |
ORPHA:3176 |
Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Abnormal vestibular function, Caudate atrophy, Sensorineural... |
ORPHA:52368 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Increased nuchal translucency, Abnormal heart m... |
ORPHA:453499 |
Aplasia Cutis Congenita |
|
Finger syndactyly, Toe syndactyly, Skin ulcer, Spinal dysraphism |
ORPHA:1114 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p... |
OMIM:601455 |
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome |
|
Branchial cyst, Finger syndactyly, Tapered finger, Sensorineural hearing impairment, Protruding e... |
ORPHA:435938 |
Otosclerosis 8 |
|
Otosclerosis, Hearing impairment |
OMIM:612096 |
Otosclerosis 3 |
|
Otosclerosis, Hearing impairment |
OMIM:608244 |
Fryns Microphthalmia Syndrome |
|
Neural tube defect, Macrotia |
OMIM:600776 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Temporal optic disc pallor, Absent brainstem auditory responses, Sensorineural hearing impairment... |
ORPHA:1215 |
Holoprosencephaly |
|
Encephalocele, Ventricular septal defect, Abnormal pulmonary valve morphology, Short neck, Extern... |
ORPHA:2162 |
Aminopterin/Methotrexate Embryofetopathy |
|
Encephalocele, Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the thumb, Finger syndact... |
ORPHA:1908 |
Primary Erythromelalgia |
|
Hypothermia |
ORPHA:90026 |
Branchiootic Syndrome 3 |
|
Branchial cyst, Sensorineural hearing impairment |
OMIM:608389 |
Branchiootorenal Syndrome 1 |
|
Branchial cyst, Branchial fistula, Mixed hearing impairment, Dilatated internal auditory canal, H... |
OMIM:113650 |
Distal 22Q11.2 Microduplication Syndrome |
|
Branchial fistula, Toe syndactyly, Ventricular septal defect, Palpebral edema, Camptodactyly of f... |
ORPHA:261337 |
Bor Syndrome |
|
Branchial cyst, Abnormality of the middle ear ossicles, External ear malformation, Hypoplasia of ... |
ORPHA:107 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Short femur, Ventricular septal defect, Anterior encephalocele, Coloboma, Foot oligodactyly, Holo... |
OMIM:601357 |
Branchiootic Syndrome |
|
Branchial fistula, Sensorineural hearing impairment, Atresia of the external auditory canal, Cond... |
ORPHA:52429 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Optic disc pallor, Abnormal auditory evoked potentials |
OMIM:617523 |
Distal 22Q11.2 Microdeletion Syndrome |
|
Branchial fistula, Bowing of the long bones, Toe syndactyly, Ventricular septal defect, Arachnoda... |
ORPHA:261330 |
Joubert Syndrome 15 |
|
Coloboma, Preaxial polydactyly, Exencephaly |
OMIM:614464 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:109120 |
Oligomeganephronia |
|
Branchial cyst, Secundum atrial septal defect, Optic disc coloboma, Dehydration, Hearing impairment |
ORPHA:2260 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Cerebellar atrophy, Optic disc pallor, Abnormal auditory evoked potentials, Sensorineural hearing... |
OMIM:619260 |
Alg3-Cdg |
|
Abnormal pinna morphology, Metaphyseal chondrodysplasia, Abnormal limb bone morphology, Neural tu... |
ORPHA:79321 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Bicuspid aortic valve, Ventricular septal defect, Postaxial polydactyly, Conductive hearing impai... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Bicuspid aortic valve, Ventricular septal defect, Postaxial polydactyly, Conductive hearing impai... |
ORPHA:352665 |
Blepharocheilodontic Syndrome 1 |
|
Neural tube defect, Clinodactyly, Cutaneous syndactyly |
OMIM:119580 |
Riboflavin Deficiency |
|
Hypothermia |
OMIM:615026 |
8Q24.3 Microdeletion Syndrome |
|
Branchial cyst, Micromelia, Short neck, Finger clinodactyly, Clinodactyly of the 5th finger, Atri... |
ORPHA:508488 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Branchial cyst, Polyhydramnios, Conductive hearing impairment, Severe sensorineural hearing impai... |
OMIM:620186 |
Deafness, Unilateral |
|
Unilateral deafness |
OMIM:125000 |
Isolated Posterior Meningocele |
|
Limitation of neck motion, Meningocele, Lipomyelomeningocele, Hydrocephalus, Neural tube defect, ... |
ORPHA:268810 |
2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Hypothermia |
OMIM:610006 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
|
Brachydactyly, Posteriorly rotated ears, Prominent antihelix, Branchial anomaly, Short palm, Prom... |
ORPHA:466950 |
Chronic Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
ORPHA:529799 |
Leukodystrophy, Hypomyelinating, 13 |
|
Prolonged brainstem auditory evoked potentials, Optic atrophy |
OMIM:616881 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Short stature, Sensorineural hearing impairment, Spinal dysraphism, Hypoplastic left heart, Aorti... |
OMIM:617660 |
Treacher-Collins Syndrome |
|
Encephalocele, Branchial fistula, Patent ductus arteriosus, Microtia, Conductive hearing impairme... |
ORPHA:861 |
Developmental And Epileptic Encephalopathy 78 |
|
Hypothermia |
OMIM:618557 |
Late-Infantile/Juvenile Krabbe Disease |
|
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, EEG with per... |
ORPHA:206443 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Absent brainstem auditory responses, Diffuse cerebral atrophy, Vestibular areflexia |
ORPHA:3240 |
Spontaneous Periodic Hypothermia |
|
Hypothermia |
ORPHA:29822 |
Charcot-Marie-Tooth Disease Type 1F |
|
Absent brainstem auditory responses, Optic nerve hypoplasia, Decreased nerve conduction velocity,... |
ORPHA:101085 |
Arthrogryposis, Distal, Type 2A |
|
Cerebellar atrophy, Abnormal auditory evoked potentials, Hearing impairment |
OMIM:193700 |
Iniencephaly |
|
Encephalocele, Rhizomelia, Rocker bottom foot, Spina bifida, Polyhydramnios, Myelomeningocele, Hy... |
ORPHA:63259 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Orthostatic hypotension, EEG with generalized slow activity, Abnormal auditory evoked potentials,... |
ORPHA:99027 |
Infantile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Diffuse cerebral atrophy, Decreased nerve conduct... |
ORPHA:206436 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, Aganglionic megacolon, Short-segment aganglionic megacolon, ... |
OMIM:609136 |
Branchiooculofacial Syndrome |
|
Posteriorly rotated ears, Proximal placement of thumb, Short neck, Postnatal growth retardation, ... |
OMIM:113620 |
Craniorachischisis |
|
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism |
ORPHA:63260 |
Coenzyme Q10 Deficiency, Primary, 5 |
|
Hypothermia |
OMIM:614654 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Hypothermia |
OMIM:616501 |
Craniofacial Microsomia 1 |
|
Occipital encephalocele, Ventricular septal defect, Hydrocephalus, Sensorineural hearing impairme... |
OMIM:164210 |
Adult Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, EEG abnormality |
ORPHA:206448 |
Witteveen-Kolk Syndrome |
|
Uplifted earlobe, Polyhydramnios, Proximal placement of thumb, Protruding ear, Short palm, Clinod... |
OMIM:613406 |
Idiopathic Congenital Hypothyroidism |
|
Hypothermia |
ORPHA:95717 |
Sacral Defect With Anterior Meningocele |
|
Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract, Hydromyelia, Bila... |
OMIM:600145 |
Aprosencephaly Syndrome |
|
Aprosencephaly, Anencephaly, Hand oligodactyly |
OMIM:207770 |
Sudden Infant Death-Dysgenesis Of The Testes Syndrome |
|
Hypothermia |
ORPHA:168593 |
Cockayne Syndrome Type 1 |
|
Absent brainstem auditory responses, Optic atrophy, Macrotia, Abnormality of peripheral nerve con... |
ORPHA:90321 |
Trisomy 10P |
|
Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG with burst suppression, Abnorm... |
ORPHA:171929 |
Mogs-Cdg |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy |
ORPHA:79330 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Hypothermia |
OMIM:614498 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Hypothermia |
OMIM:245400 |
Cerebrotendinous Xanthomatosis |
|
Cerebellar atrophy, Optic disc pallor, Abnormal auditory evoked potentials, Optic neuropathy, Dec... |
ORPHA:909 |
Semilobar Holoprosencephaly |
|
Short stature, Hydrocephalus, Sensorineural hearing impairment, Abnormal heart morphology, Growth... |
ORPHA:220386 |
Alobar Holoprosencephaly |
|
Short stature, Hydrocephalus, Sensorineural hearing impairment, Abnormal heart morphology, Growth... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Short stature, Hydrocephalus, Sensorineural hearing impairment, Abnormal heart morphology, Growth... |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Short stature, Hydrocephalus, Sensorineural hearing impairment, Abnormal heart morphology, Growth... |
ORPHA:93924 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Hypothermia |
ORPHA:226313 |
Menkes Disease |
|
Hypothermia |
OMIM:309400 |
Familial Thyroid Dyshormonogenesis |
|
Hypothermia |
ORPHA:95716 |
Cockayne Syndrome A |
|
Cerebellar atrophy, Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased ner... |
OMIM:216400 |
Timothy Syndrome |
|
Hypothermia |
OMIM:601005 |
Cockayne Syndrome B |
|
Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased nerve conduction veloci... |
OMIM:133540 |
Schinzel-Giedion Syndrome |
|
Delayed eruption of teeth, Abnormality of the stapes, Overlapping fingers, Overlapping toe, Short... |
ORPHA:798 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Hypothermia |
OMIM:608800 |
Mend Syndrome |
|
Abnormal auditory evoked potentials, Low-set ears |
ORPHA:401973 |
Meningococcal Meningitis |
|
Hypothermia |
ORPHA:33475 |
Congenital Enterovirus Infection |
|
Hypothermia |
ORPHA:292 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Hypothermia |
OMIM:618775 |
Genetic Transient Congenital Hypothyroidism |
|
Hypothermia |
ORPHA:226316 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Hypothermia |
ORPHA:159 |
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Hypothermia |
OMIM:618493 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hypothermia |
ORPHA:26793 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Hypothermia |
OMIM:618329 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hypothermia |
OMIM:251880 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Hypothermia |
ORPHA:90673 |
Dopamine Beta-Hydroxylase Deficiency |
|
Hypothermia |
ORPHA:230 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Hypothermia |
ORPHA:20 |
Tbck-Related Intellectual Disability Syndrome |
|
Hypothermia |
ORPHA:488632 |
Aprosencephaly And Cerebellar Dysgenesis |
|
Aprosencephaly, Talipes equinovarus |
OMIM:601374 |
Alexander Disease |
|
Hypothermia |
ORPHA:58 |
Ethylene Glycol Poisoning |
|
Hypothermia |
ORPHA:31826 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Hypothermia |
ORPHA:90674 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Hypothermia |
ORPHA:17 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Hypothermia |
ORPHA:79282 |
Neuroleptic Malignant Syndrome |
|
Hypothermia |
ORPHA:94093 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Hypothermia |
ORPHA:255210 |
Menkes Disease |
|
Hypothermia |
ORPHA:565 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Hypothermia |
OMIM:218700 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Hypothermia |
ORPHA:226307 |
Occipital Horn Syndrome |
|
Hypothermia |
ORPHA:198 |
Marburg Hemorrhagic Fever |
|
Hypothermia |
ORPHA:99826 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hypothermia |
ORPHA:293987 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Hypothermia |
ORPHA:438213 |
Sarcoidosis |
|
Hypothermia |
ORPHA:797 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Hypothermia |
ORPHA:642 |
Long Qt Syndrome 2 |
|
|
OMIM:613688 |