Congenital sensorineural hearing impairment
Symptom Information:
Symptom ID: | HPO:0008527 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Synonyms: |
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Cross references: |
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Is a (Direct Parents): |
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Is a (Whole tree): |
HPO:
All(HPO:0000001) Phenotypic abnormality(HPO:0000118) Abnormality of the ear(HPO:0000598) Hearing abnormality(HPO:0000364) Hearing impairment(HPO:0000365) Sensorineural hearing impairment(HPO:0000407) Congenital sensorineural hearing impairment(HPO:0008527) Abnormality of the inner ear(HPO:0000359) Functional abnormality of the inner ear(HPO:0011389) Sensorineural hearing impairment(HPO:0000407) Congenital sensorineural hearing impairment(HPO:0008527) MedDRA: Ear and labyrinth disorders(MedDRA:10013993) Hearing disorders(MedDRA:10019243) Hearing impairment(HPO:0000365) Congenital sensorineural hearing impairment(HPO:0008527) Congenital, familial and genetic disorders(MedDRA:10010331) Ear and labyrinthine disorders congenital(MedDRA:10013995) Hearing disorders congenital(MedDRA:10019244) Hearing impairment(HPO:0000365) Congenital sensorineural hearing impairment(HPO:0008527) |
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Database Frequency: | 165 / 7739 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Resource: |
All diseases associated with this symptom:
1p36 deletion syndrome | (Orphanet:1606) |
2p15p16.1 microdeletion syndrome | (Orphanet:261349) |
2q37 microdeletion syndrome | (Orphanet:1001) |
8q21.11 microdeletion syndrome | (Orphanet:284160) |
ALG11-CDG | (Orphanet:280071) |
ATAXIA, DEAFNESS, AND CARDIOMYOPATHY | (OMIM:208750) |
ATAXIA, SPASTIC, CHILDHOOD-ONSET, AUTOSOMAL RECESSIVE, WITH OPTICATROPHY AND MENTAL RETARDATION | (OMIM:270500) |
AXENFELD-RIEGER ANOMALY WITH PARTIALLY ABSENT EYE MUSCLES, DISTINCTIVEFACE, HYDROCEPHALY, AND SKELETAL ABNORMALITIES | (OMIM:109120) |
Acro-osteolysis-keloid-like lesions-premature aging syndrome | (Orphanet:363665) |
Agenesis of the corpus callosum - intellectual deficit - coloboma - micrognathia | (Orphanet:52055) |
Albinism-deafness syndrome | (Orphanet:998) |
Alpha-N-acetylgalactosaminidase deficiency type 2 | (Orphanet:79280) |
Alpha-thalassemia - X-linked intellectual deficit syndrome | (Orphanet:847) |
Alström syndrome | (Orphanet:64) |
Arthrogryposis-like hand anomaly - sensorineural deafness | (Orphanet:1144) |
Atherosclerosis - deafness - diabetes - epilepsy - nephropathy | (Orphanet:1192) |
Autosomal dominant intermediate Charcot-Marie-Tooth disease type E | (Orphanet:93114) |
Autosomal recessive spastic paraplegia type 44 | (Orphanet:320401) |
BARTTER SYNDROME, TYPE 4A | (OMIM:602522) |
BARTTER SYNDROME, TYPE 4B | (OMIM:613090) |
BRANCHIOOTIC SYNDROME 1 | (OMIM:602588) |
BRANCHIOOTORENAL SYNDROME 1 | (OMIM:113650) |
BROWN-VIALETTO-VAN LAERE SYNDROME 1 | (OMIM:211530) |
Björnstad syndrome | (Orphanet:123) |
Blepharophimosis-intellectual deficit syndrome, Verloes type | (Orphanet:293725) |
Branchiogenic deafness syndrome | (Orphanet:50815) |
CARPENTER SYNDROME 1 | (OMIM:201000) |
CEREBELLAR ATAXIA AND NEUROSENSORY DEAFNESS | (OMIM:212850) |
CEREBROOCULOFACIOSKELETAL SYNDROME 1 | (OMIM:214150) |
COCKAYNE SYNDROME A | (OMIM:216400) |
COCKAYNE SYNDROME B | (OMIM:133540) |
CODAS syndrome | (Orphanet:1458) |
COENZYME Q10 DEFICIENCY, PRIMARY, 1 | (OMIM:607426) |
CORNELIA DE LANGE SYNDROME 1 | (OMIM:122470) |
Cardiospondylocarpofacial syndrome | (Orphanet:3238) |
Charcot-Marie-Tooth disease type 1E | (Orphanet:90658) |
Charcot-Marie-Tooth disease type 4B2 | (Orphanet:99956) |
Coffin-Lowry syndrome | (Orphanet:192) |
Corneal anesthesia - deafness - intellectual deficit | (Orphanet:1051) |
Craniofacial-deafness-hand syndrome | (Orphanet:1529) |
Craniosynostosis - anal anomalies - porokeratosis | (Orphanet:85199) |
D-glyceric aciduria | (Orphanet:941) |
DEAFNESS, AUTOSOMAL DOMINANT 1 | (OMIM:124900) |
DEAFNESS, AUTOSOMAL DOMINANT 28 | (OMIM:608641) |
DEAFNESS, AUTOSOMAL RECESSIVE 23 | (OMIM:609533) |
DEAFNESS, AUTOSOMAL RECESSIVE 42 | (OMIM:609646) |
DEAFNESS, AUTOSOMAL RECESSIVE 46 | (OMIM:609647) |
DEAFNESS, AUTOSOMAL RECESSIVE 74 | (OMIM:613718) |
DEAFNESS, AUTOSOMAL RECESSIVE 8 | (OMIM:601072) |
DEAFNESS, AUTOSOMAL RECESSIVE 9 | (OMIM:601071) |
DEAFNESS, MID-TONE NEURAL | (OMIM:124700) |
DEAFNESS, NEURAL, CONGENITAL MODERATE | (OMIM:221500) |
DEAFNESS, NEURAL, WITH ATYPICAL ATOPIC DERMATITIS | (OMIM:221700) |
DEAFNESS, SENSORINEURAL, WITH PERIPHERAL NEUROPATHY AND ARTERIAL DISEASE | (OMIM:124950) |
Deafness - small bowel diverticulosis - neuropathy | (Orphanet:3217) |
Deafness - enamel hypoplasia - nail defects | (Orphanet:3220) |
Deafness - oligodontia | (Orphanet:3230) |
Deafness-infertility syndrome | (Orphanet:94064) |
Developmental malformations - deafness - dystonia | (Orphanet:79107) |
Distal monosomy 10q | (Orphanet:96148) |
Distal monosomy 6p | (Orphanet:96125) |
Donnai-Barrow syndrome | (Orphanet:2143) |
EPIDERMOLYSIS BULLOSA DYSTROPHICA NEUROTROPHICA | (OMIM:226500) |
Ectodermal dysplasia - sensorineural deafness | (Orphanet:1883) |
Ermine phenotype | (Orphanet:999) |
FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1 | (OMIM:158900) |
FRIEDREICH ATAXIA, SO-CALLED, WITH OPTIC ATROPHY AND SENSORINEURALDEAFNESS | (OMIM:136600) |
Familial cutaneous collagenoma | (Orphanet:53296) |
Familial isolated dilated cardiomyopathy | (Orphanet:154) |
Familial long QT syndrome | (Orphanet:768) |
Fibrodysplasia ossificans progressiva | (Orphanet:337) |
Fountain syndrome | (Orphanet:3219) |
Galactose epimerase deficiency | (Orphanet:79238) |
Goldenhar syndrome | (Orphanet:374) |
Growth delay due to insulin-like growth factor type 1 deficiency | (Orphanet:73272) |
HISTIDINURIA DUE TO A RENAL TUBULAR DEFECT | (OMIM:235830) |
HOMOZYGOUS 11p15-p14 DELETION SYNDROME | (OMIM:606528) |
HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL RECESSIVE, 1 | (OMIM:241520) |
Hyperleucine-isoleucinemia | (OMIM:238340) |
Hypermethioninemia encephalopathy due to adenosine kinase deficiency | (Orphanet:289290) |
Hypoparathyroidism - deafness - renal disease | (Orphanet:2237) |
ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS | (OMIM:602540) |
Infantile cerebellar-retinal degeneration | (Orphanet:313850) |
Intellectual deficit, X-linked - Dandy-Walker malformation - basal ganglia disease - Seizures | (Orphanet:1568) |
Jervell and Lange-Nielsen syndrome | (Orphanet:90647) |
Jervell and Lange-Nielsen syndrome 1 | (OMIM:220400) |
Kearns-Sayre syndrome | (Orphanet:480) |
LEOPARD SYNDROME 1 | (OMIM:151100) |
Leber congenital amaurosis 1 | (OMIM:204000) |
Lenz-Majewski hyperostotic dwarfism | (Orphanet:2658) |
Lipodystrophy - intellectual deficit - deafness | (Orphanet:50811) |
MEDNIK syndrome | (Orphanet:171851) |
MEGDEL syndrome | (Orphanet:352328) |
MELAS | (Orphanet:550) |
MENTAL RETARDATION, X-LINKED 46 | (OMIM:300436) |
MERRF | (Orphanet:551) |
MICROCEPHALY 3, PRIMARY, AUTOSOMAL RECESSIVE | (OMIM:604804) |
Marshall syndrome | (Orphanet:560) |
Maternally-inherited diabetes and deafness | (Orphanet:225) |
NEUROENDOCRINE CARCINOMA OF SALIVARY GLANDS, SENSORINEURAL HEARINGLOSS, AND ENAMEL HYPOPLASIA | (OMIM:603641) |
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA | (OMIM:162400) |
NOONAN SYNDROME 1 | (OMIM:163950) |
Nail-patella syndrome | (Orphanet:2614) |
Nephronophthisis-like nephropathy 1 | (OMIM:613159) |
Neurologic Waardenburg-Shah syndrome | (Orphanet:163746) |
Neurological conditions associated with aminoacylase 1 deficiency | (Orphanet:137754) |
Neutral lipid storage myopathy | (Orphanet:98908) |
Norrie disease | (Orphanet:649) |
OPITZ-KAVEGGIA SYNDROME | (OMIM:305450) |
Oculootodental syndrome | (Orphanet:99806) |
Oculopharyngodistal myopathy | (Orphanet:98897) |
Otodental syndrome | (Orphanet:2791) |
Otospondylomegaepiphyseal dysplasia | (Orphanet:1427) |
PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS | (OMIM:614369) |
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,AUTOSOMAL DOMINANT, 1 | (OMIM:157640) |
Pendred syndrome | (Orphanet:705) |
Phosphoribosylpyrophosphate synthetase superactivity | (Orphanet:3222) |
Pontine tegmental cap dysplasia | (Orphanet:269229) |
RETINITIS PIGMENTOSA INVERSA WITH DEAFNESS | (OMIM:268010) |
Renal coloboma syndrome | (Orphanet:1475) |
Retinitis pigmentosa - intellectual deficit - deafness - hypogenitalism | (Orphanet:3085) |
Rosaï-Dorfman disease | (Orphanet:158014) |
STARGARDT MACULAR DEGENERATION, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM,MENTAL RETARDATION, AND DYSMORPHIC FEATURES | (OMIM:612948) |
STICKLER SYNDROME, TYPE I | (OMIM:108300) |
Sensory ataxic neuropathy-dysarthria-ophthalmoparesis | (Orphanet:70595) |
Sialidosis type 1 | (Orphanet:812) |
Spinocerebellar ataxia with epilepsy | (Orphanet:254881) |
Split hand - split foot - deafness | (Orphanet:71271) |
Spondylocarpotarsal synostosis | (Orphanet:3275) |
Sporadic Leigh syndrome | (Orphanet:255199) |
Stickler syndrome type 2 | (Orphanet:90654) |
Stickler syndrome type 3 | (Orphanet:166100) |
Thiamine-responsive megaloblastic anemia syndrome | (Orphanet:49827) |
Tietz syndrome | (Orphanet:42665) |
Townes-Brocks syndrome | (Orphanet:857) |
USHER SYNDROME, TYPE IC | (OMIM:276904) |
USHER SYNDROME, TYPE IE | (OMIM:602097) |
USHER SYNDROME, TYPE IF | (OMIM:602083) |
USHER SYNDROME, TYPE IIC | (OMIM:605472) |
Upper limb defect - eye and ear abnormalities | (Orphanet:2489) |
Usher syndrome type 2 | (Orphanet:231178) |
Vici syndrome | (Orphanet:1493) |
WAARDENBURG SYNDROME, TYPE 2A | (OMIM:193510) |
WAARDENBURG SYNDROME, TYPE 2B | (OMIM:600193) |
WAARDENBURG SYNDROME, TYPE 2D | (OMIM:608890) |
WAARDENBURG SYNDROME, TYPE 2E | (OMIM:611584) |
WAARDENBURG SYNDROME, TYPE 4A | (OMIM:277580) |
WAARDENBURG SYNDROME, TYPE 4B | (OMIM:613265) |
WAARDENBURG SYNDROME, TYPE 4C | (OMIM:613266) |
WT limb-blood syndrome | (Orphanet:3466) |
Waardenburg syndrome type 1 | (Orphanet:894) |
Waardenburg syndrome type 2 | (Orphanet:895) |
Warsaw breakage syndrome | (Orphanet:280558) |
Weissenbacher- Zweymuller syndrome | (Orphanet:3450) |
Wolfram syndrome | (Orphanet:3463) |
Wolfram syndrome 1 | (OMIM:222300) |
Wolfram syndrome 2 | (OMIM:604928) |
Wolfram syndrome, mitochondrial form | (OMIM:598500) |
Woodhouse-Sakati syndrome | (Orphanet:3464) |
X-linked Charcot-Marie-Tooth disease type 1 | (Orphanet:101075) |
X-linked Charcot-Marie-Tooth disease type 4 | (Orphanet:101078) |
X-linked Charcot-Marie-Tooth disease type 6 | (Orphanet:352675) |
X-linked intellectual deficit, Najm type | (Orphanet:163937) |
X-linked nonsyndromic sensorineural deafness type DFN | (Orphanet:90625) |
X-linked spinocerebellar ataxia type 3 | (Orphanet:85297) |