Sensorineural hearing impairment

Symptom Information:

Symptom ID: HPO:0000407
Synonyms:
HEARING LOSS, SENSORINEURAL [HPO:0000407]
Sensorineural deafness [HPO:0000407]
Sensorineural hearing loss [Orphanet:13660]
Sensorineural hearing loss [HPO:0000407]
Sensory hearing loss (disorder) [Orphanet:13660]
Sensorineural hearing loss (disorder) [Orphanet:13660]
Sensory hearing loss [Orphanet:13660]
Sensorineural Hearing Loss (disorder) [Orphanet:13660]
Hearing loss, sensorineural [OMIM:Hearing loss, sensorineural]
Sensorineural deafness [OMIM:Sensorineural deafness]
Sensorineural deafness/hearing loss [Orphanet:13660]
Deafness neurosensory [Orphanet:13660]
Deafness neurosensory [MedDRA:10011891]
Central hearing loss [MedDRA:10011891]
Cochlear function disorder [MedDRA:10011891]
Cochlear nerve damage [MedDRA:10011891]
Cochlear nerve deafness [MedDRA:10011891]
Deafness labyrinthine [MedDRA:10011891]
Deafness nerve [MedDRA:10011891]
Deafness nerve type [MedDRA:10011891]
High tone sensori-neuronal hearing loss [MedDRA:10011891]
Nerve deafness [MedDRA:10011891]
Neural deafness [MedDRA:10011891]
Neural hearing loss [MedDRA:10011891]
Neuro sensory deafness [MedDRA:10011891]
Perceptive deafness [MedDRA:10011891]
Sensorineural deafness [MedDRA:10011891]
Sensorineural hearing loss [MedDRA:10011891]
Sensorineural hearing loss of combined types [MedDRA:10011891]
Sensorineural hearing loss, unspecified [MedDRA:10011891]
Sensory hearing loss [MedDRA:10011891]
Central hearing loss [OMIM:Central hearing loss]
Deafness, neurosensory [OMIM:Deafness, neurosensory]
Deafness, sensorineural [OMIM:Deafness, sensorineural]
Deafness, sensorineural (45%) [OMIM:Deafness, sensorineural (45%)]
Deafness, sensorineural (in some patients) [OMIM:Deafness, sensorineural (in some patients)]
Deafness, sensorineural (reported in 1 family) [OMIM:Deafness, sensorineural (reported in 1 family)]
Deafness, sensorineural (severe to profound) [OMIM:Deafness, sensorineural (severe to profound)]
Hearing loss, sensorineural (bilateral, prelingual) [OMIM:Hearing loss, sensorineural (bilateral, prelingual)]
Hearing loss, sensorineural (high frequency) [OMIM:Hearing loss, sensorineural (high frequency)]
Hearing loss, sensorineural (in 2 patients) [OMIM:Hearing loss, sensorineural (in 2 patients)]
Hearing loss, sensorineural (in patients with larger deletions) [OMIM:Hearing loss, sensorineural (in patients with larger deletions)]
Hearing loss, sensorineural (in some cases) [OMIM:Hearing loss, sensorineural (in some cases)]
Hearing loss, sensorineural (in some patients) [OMIM:Hearing loss, sensorineural (in some patients)]
Hearing loss, sensorineural (in some) [OMIM:Hearing loss, sensorineural (in some)]
Hearing loss, sensorineural (less common) [OMIM:Hearing loss, sensorineural (less common)]
Hearing loss, sensorineural (reported in 1 patient) [OMIM:Hearing loss, sensorineural (reported in 1 patient)]
Hearing loss, sensorineural (type II) [OMIM:Hearing loss, sensorineural (type II)]
Hearing loss, sensorineural (variable) [OMIM:Hearing loss, sensorineural (variable)]
Labyrinthine deafness [OMIM:Labyrinthine deafness]
Nerve deafness [OMIM:Nerve deafness]
Neural hearing loss [OMIM:Neural hearing loss]
Neurosensory deafness [OMIM:Neurosensory deafness]
Sensorineural deafness (onset in the second decade in 25 to 30% of patients) [OMIM:Sensorineural deafness (onset in the second decade in 25 to 30% of patients)]
Sensorineural deafness (rare) [OMIM:Sensorineural deafness (rare)]
Sensorineural hearing impairment (less common) [OMIM:Sensorineural hearing impairment (less common)]
Sensorineural hearing loss [OMIM:Sensorineural hearing loss]
Sensorineural hearing loss (1 family) [OMIM:Sensorineural hearing loss (1 family)]
Sensorineural hearing loss (1 patient) [OMIM:Sensorineural hearing loss (1 patient)]
Sensorineural hearing loss (20% of patients) [OMIM:Sensorineural hearing loss (20% of patients)]
Sensorineural hearing loss (3 patients) [OMIM:Sensorineural hearing loss (3 patients)]
Sensorineural hearing loss (described in 1 family) [OMIM:Sensorineural hearing loss (described in 1 family)]
Sensorineural hearing loss (early-onset form) [OMIM:Sensorineural hearing loss (early-onset form)]
Sensorineural hearing loss (in 1 of 3 patients) [OMIM:Sensorineural hearing loss (in 1 of 3 patients)]
Sensorineural hearing loss (in some patients) [OMIM:Sensorineural hearing loss (in some patients)]
Sensorineural hearing loss (less common) [OMIM:Sensorineural hearing loss (less common)]
Sensorineural hearing loss (males only) [OMIM:Sensorineural hearing loss (males only)]
Sensorineural hearing loss (onset early childhood) [OMIM:Sensorineural hearing loss (onset early childhood)]
Sensorineural hearing loss (reported in 1 patient) [OMIM:Sensorineural hearing loss (reported in 1 patient)]
Sensorineural hearing loss (uncommon) [OMIM:Sensorineural hearing loss (uncommon)]
Sensorineural hearing loss. [OMIM:Sensorineural hearing loss.]
Sensory hearing loss [OMIM:Sensory hearing loss]
Central hearing loss [MedDRA:10007933]
Central hearing loss (disorder) [Orphanet:13700]
Hearing Loss, Central [Orphanet:13700]
Central deafness/hearing loss [Orphanet:13700]
Quality:
Cross references:
HPO:0008625 "Severe sensorineural hearing impairment" [Orphanet:13660]
HPO:0008527 "Congenital sensorineural hearing impairment" [Orphanet:13660]
Orphanet:13660 "Sensorineural deafness/hearing loss" [Orphanet:13660]
Orphanet:13700 "Central deafness/hearing loss" [Orphanet:13700]
OMIM: "Hearing loss, sensorineural" [OMIM:Hearing loss, sensorineural]
OMIM: "Sensorineural deafness" [OMIM:Sensorineural deafness]
OMIM: "Central hearing loss" [OMIM:Central hearing loss]
OMIM: "Deafness, neurosensory" [OMIM:Deafness, neurosensory]
OMIM: "Deafness, sensorineural" [OMIM:Deafness, sensorineural]
OMIM: "Deafness, sensorineural (45%)" [OMIM:Deafness, sensorineural (45%)]
OMIM: "Deafness, sensorineural (in some patients)" [OMIM:Deafness, sensorineural (in some patients)]
OMIM: "Deafness, sensorineural (reported in 1 family)" [OMIM:Deafness, sensorineural (reported in 1 family)]
OMIM: "Deafness, sensorineural (severe to profound)" [OMIM:Deafness, sensorineural (severe to profound)]
OMIM: "Hearing loss, sensorineural (bilateral, prelingual)" [OMIM:Hearing loss, sensorineural (bilateral, prelingual)]
OMIM: "Hearing loss, sensorineural (high frequency)" [OMIM:Hearing loss, sensorineural (high frequency)]
OMIM: "Hearing loss, sensorineural (in 2 patients)" [OMIM:Hearing loss, sensorineural (in 2 patients)]
OMIM: "Hearing loss, sensorineural (in patients with larger deletions)" [OMIM:Hearing loss, sensorineural (in patients with larger deletions)]
OMIM: "Hearing loss, sensorineural (in some cases)" [OMIM:Hearing loss, sensorineural (in some cases)]
OMIM: "Hearing loss, sensorineural (in some patients)" [OMIM:Hearing loss, sensorineural (in some patients)]
OMIM: "Hearing loss, sensorineural (in some)" [OMIM:Hearing loss, sensorineural (in some)]
OMIM: "Hearing loss, sensorineural (less common)" [OMIM:Hearing loss, sensorineural (less common)]
OMIM: "Hearing loss, sensorineural (reported in 1 patient)" [OMIM:Hearing loss, sensorineural (reported in 1 patient)]
OMIM: "Hearing loss, sensorineural (type II)" [OMIM:Hearing loss, sensorineural (type II)]
OMIM: "Hearing loss, sensorineural (variable)" [OMIM:Hearing loss, sensorineural (variable)]
OMIM: "Labyrinthine deafness" [OMIM:Labyrinthine deafness]
OMIM: "Nerve deafness" [OMIM:Nerve deafness]
OMIM: "Neural hearing loss" [OMIM:Neural hearing loss]
OMIM: "Neurosensory deafness" [OMIM:Neurosensory deafness]
OMIM: "Sensorineural deafness (onset in the second decade in 25 to 30% of patients)" [OMIM:Sensorineural deafness (onset in the second decade in 25 to 30% of patients)]
OMIM: "Sensorineural deafness (rare)" [OMIM:Sensorineural deafness (rare)]
OMIM: "Sensorineural hearing impairment (less common)" [OMIM:Sensorineural hearing impairment (less common)]
OMIM: "Sensorineural hearing loss" [OMIM:Sensorineural hearing loss]
OMIM: "Sensorineural hearing loss (1 family)" [OMIM:Sensorineural hearing loss (1 family)]
OMIM: "Sensorineural hearing loss (1 patient)" [OMIM:Sensorineural hearing loss (1 patient)]
OMIM: "Sensorineural hearing loss (20% of patients)" [OMIM:Sensorineural hearing loss (20% of patients)]
OMIM: "Sensorineural hearing loss (3 patients)" [OMIM:Sensorineural hearing loss (3 patients)]
OMIM: "Sensorineural hearing loss (described in 1 family)" [OMIM:Sensorineural hearing loss (described in 1 family)]
OMIM: "Sensorineural hearing loss (early-onset form)" [OMIM:Sensorineural hearing loss (early-onset form)]
OMIM: "Sensorineural hearing loss (in 1 of 3 patients)" [OMIM:Sensorineural hearing loss (in 1 of 3 patients)]
OMIM: "Sensorineural hearing loss (in some patients)" [OMIM:Sensorineural hearing loss (in some patients)]
OMIM: "Sensorineural hearing loss (less common)" [OMIM:Sensorineural hearing loss (less common)]
OMIM: "Sensorineural hearing loss (males only)" [OMIM:Sensorineural hearing loss (males only)]
OMIM: "Sensorineural hearing loss (onset early childhood)" [OMIM:Sensorineural hearing loss (onset early childhood)]
OMIM: "Sensorineural hearing loss (reported in 1 patient)" [OMIM:Sensorineural hearing loss (reported in 1 patient)]
OMIM: "Sensorineural hearing loss (uncommon)" [OMIM:Sensorineural hearing loss (uncommon)]
OMIM: "Sensorineural hearing loss." [OMIM:Sensorineural hearing loss.]
OMIM: "Sensory hearing loss" [OMIM:Sensory hearing loss]
UMLS:C1691779 "Sensory hearing loss" [Orphanet:13660]
UMLS:C0018784 "Sensorineural Hearing Loss (disorder)" [Orphanet:13660]
UMLS:C0018776 "Hearing Loss, Central" [Orphanet:13700]
Is a (Direct Parents):
HPO         Hearing impairment
MedDRA Hearing impairment
HPO         Old-aged sensorineural hearing impairment
Orphanet Hearing impairment
HPO         Functional abnormality of the inner ear
Is a (Whole tree): HPO:
All(HPO:0000001)
    Phenotypic abnormality(HPO:0000118)
       Abnormality of the ear(HPO:0000598)
          Abnormality of the inner ear(HPO:0000359)
             Functional abnormality of the inner ear(HPO:0011389)
                Sensorineural hearing impairment(HPO:0000407)
          Hearing abnormality(HPO:0000364)
             Hearing impairment(HPO:0000365)
                Sensorineural hearing impairment(HPO:0000407)
MedDRA:
Ear and labyrinth disorders(MedDRA:10013993)
    Hearing disorders(MedDRA:10019243)
       Hearing impairment(HPO:0000365)
          Sensorineural hearing impairment(HPO:0000407)
Congenital, familial and genetic disorders(MedDRA:10010331)
    Ear and labyrinthine disorders congenital(MedDRA:10013995)
       Hearing disorders congenital(MedDRA:10019244)
          Hearing impairment(HPO:0000365)
             Sensorineural hearing impairment(HPO:0000407)
Database Frequency: 524 / 7739
Resource:

All diseases associated with this symptom:

16p13.11 microdeletion syndrome (Orphanet:261236)
19p13.12 microdeletion syndrome (Orphanet:254346)
1p36 deletion syndrome (Orphanet:1606)
1q21.1 microdeletion syndrome (Orphanet:250989)
2p15p16.1 microdeletion syndrome (Orphanet:261349)
2q37 microdeletion syndrome (Orphanet:1001)
6q25 microdeletion syndrome (Orphanet:251056)
8q12 microduplication syndrome (Orphanet:228399)
8q21.11 microdeletion syndrome (Orphanet:284160)
ALG11-CDG (Orphanet:280071)
ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS ANDDIABETES MELLITUS (OMIM:616192)
ATAXIA, DEAFNESS, AND CARDIOMYOPATHY (OMIM:208750)
ATAXIA, SPASTIC, CHILDHOOD-ONSET, AUTOSOMAL RECESSIVE, WITH OPTICATROPHY AND MENTAL RETARDATION (OMIM:270500)
AUDITORY NEUROPATHY, AUTOSOMAL DOMINANT, 1 (OMIM:609129)
AXENFELD-RIEGER ANOMALY WITH PARTIALLY ABSENT EYE MUSCLES, DISTINCTIVEFACE, HYDROCEPHALY, AND SKELETAL ABNORMALITIES (OMIM:109120)
AXENFELD-RIEGER SYNDROME, TYPE 3 (OMIM:602482)
Abruzzo-Erickson syndrome (Orphanet:921)
Ackerman syndrome (Orphanet:2561)
Acro-osteolysis-keloid-like lesions-premature aging syndrome (Orphanet:363665)
Acro-oto-ocular syndrome (Orphanet:2980)
Acro-renal-ocular syndrome (Orphanet:959)
Acrocallosal syndrome (Orphanet:36)
Acrocraniofacial dysostosis (Orphanet:949)
Acute infantile liver failure-multisystemic involvement syndrome (Orphanet:370088)
Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency (Orphanet:329314)
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-mannosidosis (Orphanet:61)
Alpha-thalassemia - X-linked intellectual deficit syndrome (Orphanet:847)
Alport syndrome (Orphanet:63)
Alström syndrome (Orphanet:64)
Aniridia (Orphanet:77)
Anophthalmia/microphthalmia - esophageal atresia (Orphanet:77298)
Apert syndrome (Orphanet:87)
Arthrogryposis - renal dysfunction - cholestasis (Orphanet:2697)
Arthrogryposis-like hand anomaly - sensorineural deafness (Orphanet:1144)
Ataxia-deafness-retardation syndrome (Orphanet:1188)
Atherosclerosis - deafness - diabetes - epilepsy - nephropathy (Orphanet:1192)
Autosomal dominant Charcot-Marie-Tooth disease type 2C (Orphanet:99937)
Autosomal dominant Charcot-Marie-Tooth disease type 2J (Orphanet:99943)
Autosomal dominant intermediate Charcot-Marie-Tooth disease type E (Orphanet:93114)
Autosomal dominant nonsyndromic sensorineural deafness type DFNA (Orphanet:90635)
Autosomal dominant optic atrophy plus syndrome (Orphanet:1215)
Autosomal dominant osteosclerosis, Worth type (Orphanet:2790)
Autosomal dominant progressive external ophthalmoplegia (Orphanet:254892)
Autosomal dominant spastic paraplegia type 29 (Orphanet:101009)
Autosomal recessive Stickler syndrome (Orphanet:250984)
Autosomal recessive deafness-onychodystrophy syndrome (Orphanet:79500)
Autosomal recessive distal renal tubular acidosis with deafness (Orphanet:93611)
Autosomal recessive hypophosphatemic rickets (Orphanet:289176)
Autosomal recessive nonsyndromic sensorineural deafness type DFNB (Orphanet:90636)
Autosomal recessive spastic paraplegia type 44 (Orphanet:320401)
BARAITSER-WINTER SYNDROME 1 (OMIM:243310)
BARTTER SYNDROME, TYPE 4A (OMIM:602522)
BARTTER SYNDROME, TYPE 4B (OMIM:613090)
BRANCHIOOTIC SYNDROME 1 (OMIM:602588)
BRANCHIOOTIC SYNDROME 3 (OMIM:608389)
BRANCHIOOTORENAL SYNDROME 1 (OMIM:113650)
BROWN-VIALETTO-VAN LAERE SYNDROME 1 (OMIM:211530)
BROWN-VIALETTO-VAN LAERE SYNDROME 2 (OMIM:614707)
Baraitser-Winter syndrome (Orphanet:2995)
Bardet-Biedl syndrome 12 (OMIM:615989)
Biotinidase deficiency (Orphanet:79241)
Björnstad syndrome (Orphanet:123)
Blepharophimosis-intellectual deficit syndrome, Ohdo type (Orphanet:2728)
Blepharophimosis-intellectual deficit syndrome, Verloes type (Orphanet:293725)
Bosley-Salih-Alorainy syndrome (Orphanet:69737)
Brachydactyly type B2 (Orphanet:140908)
Branchio-oculo-facial syndrome (Orphanet:1297)
Branchio-otic syndrome (Orphanet:52429)
Branchiogenic deafness syndrome (Orphanet:50815)
Brittle cornea syndrome (Orphanet:90354)
CADDS (Orphanet:369942)
CARPENTER SYNDROME 1 (OMIM:201000)
CATARACTS, CONGENITAL, WITH SENSORINEURAL DEAFNESS, DOWN SYNDROME-LIKEFACIAL APPEARANCE, SHORT STATURE, AND MENTAL RETARDATION (OMIM:601088)
CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURALHEARING LOSS, AND SKELETAL DYSPLASIA (OMIM:616007)
CEDNIK syndrome (Orphanet:66631)
CEREBELLAR ATAXIA AND NEUROSENSORY DEAFNESS (OMIM:212850)
CEREBELLAR ATAXIA, AREFLEXIA, PES CAVUS, OPTIC ATROPHY, AND SENSORINEURALHEARING LOSS (OMIM:601338)
CEREBROOCULOFACIOSKELETAL SYNDROME 1 (OMIM:214150)
CINCA syndrome (Orphanet:1451)
COCKAYNE SYNDROME A (OMIM:216400)
COCKAYNE SYNDROME B (OMIM:133540)
CODAS syndrome (Orphanet:1458)
COENZYME Q10 DEFICIENCY, PRIMARY, 1 (OMIM:607426)
COFS syndrome (Orphanet:1466)
CORNELIA DE LANGE SYNDROME 1 (OMIM:122470)
CRANIOSYNOSTOSIS-MENTAL RETARDATION SYNDROME OF LIN AND GETTIG (OMIM:218649)
CUTIS VERTICIS GYRATA, RETINITIS PIGMENTOSA, AND SENSORINEURAL DEAFNESS (OMIM:605685)
Camptodactyly - tall stature - scoliosis - hearing loss (Orphanet:85164)
Carpenter syndrome (Orphanet:65759)
Carpenter-Waziri syndrome (Orphanet:93973)
Cataract - ataxia - deafness (Orphanet:1368)
Cataract - deafness - hypogonadism (Orphanet:1383)
Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss (Orphanet:1171)
Cerebellar ataxia-deafness-narcolepsy syndrome (Orphanet:314404)
Cerebro-facio-articular syndrome (Orphanet:314679)
Charcot-Marie-Tooth disease - deafness - intellectual deficit (Orphanet:90103)
Charcot-Marie-Tooth disease type 1E (Orphanet:90658)
Charcot-Marie-Tooth disease type 4B2 (Orphanet:99956)
Choroideremia - deafness - obesity (Orphanet:1435)
Chudley-Lowry-Hoar syndrome (Orphanet:93971)
Cochleosaccular degeneration - cataract (Orphanet:3233)
Cockayne syndrome (Orphanet:191)
Coffin-Lowry syndrome (Orphanet:192)
Cogan syndrome (Orphanet:1467)
Cohen syndrome (Orphanet:193)
Combined oxidative phosphorylation defect type 17 (Orphanet:369913)
Conductive deafness - malformed external ear (Orphanet:3216)
Congenital cataract - progressive muscular hypotonia - hearing loss - developmental delay (Orphanet:330054)
Congenital rubella syndrome (Orphanet:290)
Corneal anesthesia - deafness - intellectual deficit (Orphanet:1051)
Corneal dystrophy - perceptive deafness (Orphanet:1490)
Cornelia de Lange syndrome (Orphanet:199)
Crandall syndrome (Orphanet:202)
Craniofacial dysplasia-osteopenia syndrome (Orphanet:314555)
Craniofacial-deafness-hand syndrome (Orphanet:1529)
Craniofrontonasal dysplasia (Orphanet:1520)
Craniometaphyseal dysplasia (Orphanet:1522)
Craniosynostosis - anal anomalies - porokeratosis (Orphanet:85199)
Cystic leukoencephalopathy without megalencephaly (Orphanet:85136)
D-glyceric aciduria (Orphanet:941)
DE SANCTIS-CACCHIONE SYNDROME (OMIM:278800)
DEAFNESS, AUTOSOMAL DOMINANT 1 (OMIM:124900)
DEAFNESS, AUTOSOMAL DOMINANT 10 (OMIM:601316)
DEAFNESS, AUTOSOMAL DOMINANT 12 (OMIM:601543)
DEAFNESS, AUTOSOMAL DOMINANT 13 (OMIM:601868)
DEAFNESS, AUTOSOMAL DOMINANT 21 (OMIM:607017)
DEAFNESS, AUTOSOMAL DOMINANT 23 (OMIM:605192)
DEAFNESS, AUTOSOMAL DOMINANT 25 (OMIM:605583)
DEAFNESS, AUTOSOMAL DOMINANT 28 (OMIM:608641)
DEAFNESS, AUTOSOMAL DOMINANT 33 (OMIM:614211)
DEAFNESS, AUTOSOMAL DOMINANT 36 (OMIM:606705)
DEAFNESS, AUTOSOMAL DOMINANT 3A (OMIM:601544)
DEAFNESS, AUTOSOMAL DOMINANT 44 (OMIM:607453)
DEAFNESS, AUTOSOMAL DOMINANT 48 (OMIM:607841)
DEAFNESS, AUTOSOMAL DOMINANT 49 (OMIM:608372)
DEAFNESS, AUTOSOMAL DOMINANT 50 (OMIM:613074)
DEAFNESS, AUTOSOMAL DOMINANT 64 (OMIM:614152)
DEAFNESS, AUTOSOMAL DOMINANT 67 (OMIM:616340)
DEAFNESS, AUTOSOMAL RECESSIVE 103 (OMIM:616042)
DEAFNESS, AUTOSOMAL RECESSIVE 16 (OMIM:603720)
DEAFNESS, AUTOSOMAL RECESSIVE 18A (OMIM:602092)
DEAFNESS, AUTOSOMAL RECESSIVE 2 (OMIM:600060)
DEAFNESS, AUTOSOMAL RECESSIVE 21 (OMIM:603629)
DEAFNESS, AUTOSOMAL RECESSIVE 22 (OMIM:607039)
DEAFNESS, AUTOSOMAL RECESSIVE 23 (OMIM:609533)
DEAFNESS, AUTOSOMAL RECESSIVE 27 (OMIM:605818)
DEAFNESS, AUTOSOMAL RECESSIVE 31 (OMIM:607084)
DEAFNESS, AUTOSOMAL RECESSIVE 35 (OMIM:608565)
DEAFNESS, AUTOSOMAL RECESSIVE 36, WITH OR WITHOUT VESTIBULAR INVOLVEMENT (OMIM:609006)
DEAFNESS, AUTOSOMAL RECESSIVE 37 (OMIM:607821)
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT (OMIM:600791)
DEAFNESS, AUTOSOMAL RECESSIVE 42 (OMIM:609646)
DEAFNESS, AUTOSOMAL RECESSIVE 46 (OMIM:609647)
DEAFNESS, AUTOSOMAL RECESSIVE 5 (OMIM:600792)
DEAFNESS, AUTOSOMAL RECESSIVE 51 (OMIM:609941)
DEAFNESS, AUTOSOMAL RECESSIVE 53 (OMIM:609706)
DEAFNESS, AUTOSOMAL RECESSIVE 59 (OMIM:610220)
DEAFNESS, AUTOSOMAL RECESSIVE 61 (OMIM:613865)
DEAFNESS, AUTOSOMAL RECESSIVE 66 (OMIM:610212)
DEAFNESS, AUTOSOMAL RECESSIVE 67 (OMIM:610265)
DEAFNESS, AUTOSOMAL RECESSIVE 68 (OMIM:610419)
DEAFNESS, AUTOSOMAL RECESSIVE 7 (OMIM:600974)
DEAFNESS, AUTOSOMAL RECESSIVE 74 (OMIM:613718)
DEAFNESS, AUTOSOMAL RECESSIVE 79 (OMIM:613307)
DEAFNESS, AUTOSOMAL RECESSIVE 8 (OMIM:601072)
DEAFNESS, AUTOSOMAL RECESSIVE 9 (OMIM:601071)
DEAFNESS, AUTOSOMAL RECESSIVE 98 (OMIM:614861)
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, X-LINKED 4 (OMIM:300066)
DEAFNESS, Y-LINKED 1 (OMIM:400043)
DISORGANIZATION, MOUSE, HOMOLOG OF (OMIM:223200)
Deaf blind hypopigmentation syndrome, Yemenite type (Orphanet:3214)
Deafness , X-linked 1 (OMIM:304500)
Deafness - small bowel diverticulosis - neuropathy (Orphanet:3217)
Deafness - enamel hypoplasia - nail defects (Orphanet:3220)
Deafness - epiphyseal dysplasia - short stature (Orphanet:3218)
Deafness - genital anomalies - metacarpal and metatarsal synostosis (Orphanet:3224)
Deafness - intellectual deficit, Martin-Probst type (Orphanet:85321)
Deafness - lymphedema - leukemia (Orphanet:3226)
Deafness - oligodontia (Orphanet:3230)
Deafness - onychodystrophy (Orphanet:3231)
Deafness - onychodystrophy, autosomal dominant (Orphanet:79499)
Deafness - vitiligo - achalasia (Orphanet:3239)
Deafness with labyrinthine aplasia, microtia, and microdontia (Orphanet:90024)
Deafness-craniofacial syndrome (Orphanet:3241)
Deafness-infertility syndrome (Orphanet:94064)
Dentinogenesis imperfecta - short stature - hearing loss - intellectual deficit (Orphanet:71267)
Developmental malformations - deafness - dystonia (Orphanet:79107)
Distal 22q11.2 microdeletion syndrome (Orphanet:261330)
Distal limb deficiencies - micrognathia syndrome (Orphanet:1307)
Distal monosomy 10q (Orphanet:96148)
Distal monosomy 19p13.3 (Orphanet:96129)
Distal monosomy 6p (Orphanet:96125)
Donnai-Barrow syndrome (Orphanet:2143)
Dorfman-Chanarin disease (Orphanet:98907)
EAST syndrome (Orphanet:199343)
ECTODERMAL DYSPLASIA, SENSORINEURAL HEARING LOSS, AND DISTINCTIVEFACIAL FEATURES (OMIM:609944)
EEC syndrome (Orphanet:1896)
Ectodermal dysplasia - sensorineural deafness (Orphanet:1883)
Eosinophilic granulomatosis with polyangiitis (Orphanet:183)
Epiphyseal dysplasia - hearing loss - dysmorphism (Orphanet:1825)
Ermine phenotype (Orphanet:999)
FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1 (OMIM:158900)
FG SYNDROME 4 (OMIM:300422)
FRIEDREICH ATAXIA, SO-CALLED, WITH OPTIC ATROPHY AND SENSORINEURALDEAFNESS (OMIM:136600)
FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 2 (OMIM:615911)
Fabry disease (Orphanet:324)
Facioscapulohumeral dystrophy (Orphanet:269)
Faisalabad histiocytosis (Orphanet:254707)
Familial cold urticaria (Orphanet:47045)
Familial cutaneous collagenoma (Orphanet:53296)
Familial isolated dilated cardiomyopathy (Orphanet:154)
Familial long QT syndrome (Orphanet:768)
Familial or sporadic hemiplegic migraine (Orphanet:569)
Familial progressive vestibulocochlear dysfunction (Orphanet:1767)
Familial steroid-resistant nephrotic syndrome with sensorineural deafness (Orphanet:280406)
Feingold syndrome (Orphanet:1305)
Fetal cytomegalovirus syndrome (Orphanet:294)
Fetal iodine syndrome (Orphanet:1910)
Fibrodysplasia ossificans progressiva (Orphanet:337)
Fine-Lubinsky syndrome (Orphanet:1272)
Flynn-Aird syndrome (Orphanet:2047)
Fountain syndrome (Orphanet:3219)
Frontometaphyseal dysplasia (Orphanet:1826)
GCS1-CDG (Orphanet:79330)
Galactose epimerase deficiency (Orphanet:79238)
Gemignani syndrome (Orphanet:2074)
Generalized resistance to thyroid hormone (Orphanet:3221)
Gingival fibromatosis - progressive deafness (Orphanet:2027)
Goldenhar syndrome (Orphanet:374)
Granulomatosis with polyangiitis (Orphanet:900)
Growth delay due to insulin-like growth factor type 1 deficiency (Orphanet:73272)
H syndrome (Orphanet:168569)
HISTIDINURIA DUE TO A RENAL TUBULAR DEFECT (OMIM:235830)
HUNTER-MACDONALD SYNDROME (OMIM:611962)
HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL RECESSIVE, 1 (OMIM:241520)
Haddad syndrome (Orphanet:99803)
Hearing loss - familial salivary gland insensitivity to aldosterone (Orphanet:3225)
Hennekam syndrome (Orphanet:2136)
Hereditary sensory and autonomic neuropathy type 1 (Orphanet:36386)
Hereditary sensory and autonomic neuropathy type 1B (Orphanet:139564)
Hirschsprung disease (Orphanet:388)
Hirschsprung disease - deafness - polydactyly (Orphanet:2155)
Histidinuria - renal tubular defect (Orphanet:2158)
Holmes-Gang syndrome (Orphanet:93970)
Horizontal gaze palsy with progressive scoliosis (Orphanet:2744)
Hurler syndrome (Orphanet:93473)
Hurler-Scheie syndrome (Orphanet:93476)
Hyperleucine-isoleucinemia (OMIM:238340)
Hypermethioninemia encephalopathy due to adenosine kinase deficiency (Orphanet:289290)
Hyperostosis corticalis generalisata (Orphanet:3416)
Hyperphosphatasia-intellectual deficiency syndrome (Orphanet:247262)
Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation (Orphanet:324525)
Hypocomplementemic urticarial vasculitis (Orphanet:36412)
Hypoparathyroidism - deafness - renal disease (Orphanet:2237)
ICHTHYOSIFORM ERYTHRODERMA, CORNEAL INVOLVEMENT, AND DEAFNESS (OMIM:242150)
ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS (OMIM:602540)
IMMUNODEFICIENCY 23 (OMIM:615816)
IMMUNODEFICIENCY 26 WITH OR WITHOUT NEUROLOGIC ABNORMALITIES (OMIM:615966)
Infantile Bartter syndrome with deafness (Orphanet:89938)
Infantile Refsum disease (Orphanet:772)
Infantile axonal neuropathy (Orphanet:2679)
Infantile cerebellar-retinal degeneration (Orphanet:313850)
Intellectual deficit, X-linked - Dandy-Walker malformation - basal ganglia disease - Seizures (Orphanet:1568)
Intellectual deficit, X-linked, Wittwer type (Orphanet:85291)
Isolated NADH-CoQ reductase deficiency (Orphanet:2609)
Isolated cytochrome C oxidase deficiency (Orphanet:254905)
Isolated sedoheptulokinase deficiency (ORPHA:440713)
Jervell and Lange-Nielsen syndrome 1 (OMIM:220400)
Jervell and Lange-Nielsen syndrome 2 (OMIM:612347)
Johanson-Blizzard syndrome (Orphanet:2315)
Joubert syndrome 21 (OMIM:615636)
Juberg-Marsidi syndrome (Orphanet:93972)
KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL DOMINANT (OMIM:148210)
KID syndrome (Orphanet:477)
KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT (OMIM:118100)
KLIPPEL-FEIL SYNDROME 2, AUTOSOMAL RECESSIVE (OMIM:214300)
Kabuki syndrome (Orphanet:2322)
Kallmann syndrome (Orphanet:478)
Kallmann syndrome - heart disease (Orphanet:2326)
Kawasaki disease (Orphanet:2331)
Kearns-Sayre syndrome (Orphanet:480)
Keipert syndrome (Orphanet:2662)
Keratoderma hereditarium mutilans (Orphanet:494)
Knuckle pads-leuconychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome (Orphanet:2698)
Krabbe disease (Orphanet:487)
LEOPARD SYNDROME 1 (OMIM:151100)
LEOPARD SYNDROME 3 (OMIM:613707)
Lacrimo-auriculo-dento-digital syndrome (Orphanet:2363)
Lateral meningocele syndrome (Orphanet:2789)
Laurence-Moon syndrome (Orphanet:2377)
Leber congenital amaurosis 1 (OMIM:204000)
Leigh syndrome (Orphanet:506)
Lenz-Majewski hyperostotic dwarfism (Orphanet:2658)
Lethal ataxia with deafness and optic atrophy (Orphanet:1187)
Lethal polymalformative syndrome, Boissel type (Orphanet:210144)
Lipodystrophy - intellectual deficit - deafness (Orphanet:50811)
Lowe-Kohn-Cohen syndrome (Orphanet:2408)
MEGDEL syndrome (Orphanet:352328)
MELAS (Orphanet:550)
MENTAL RETARDATION, X-LINKED 46 (OMIM:300436)
MERRF (Orphanet:551)
MGAT2-CDG (Orphanet:79329)
MICROCEPHALY 3, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:604804)
MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE) (OMIM:603041)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 12 (OMIM:615249)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 14 (OMIM:615350)
Mandibular hypoplasia-deafness-progeroid syndrome (Orphanet:363649)
Mandibulofacial dysostosis-microcephaly syndrome (Orphanet:79113)
Marshall syndrome (Orphanet:560)
Maternally-inherited diabetes and deafness (Orphanet:225)
Megalocornea-intellectual deficit syndrome (Orphanet:2479)
Metaphyseal chondrodysplasia, Jansen type (Orphanet:33067)
Microcephalic osteodysplastic primordial dwarfism type 2 (Orphanet:2637)
Microcephaly - deafness - intellectual deficit (Orphanet:2533)
Microcephaly-capillary malformation syndrome (Orphanet:294016)
Microphthalmia with brain and digit anomalies (Orphanet:139471)
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria (Orphanet:1933)
Mitochondrial myopathy - lactic acidosis - deafness (Orphanet:2597)
Mitochondrial neurogastrointestinal encephalomyopathy (Orphanet:298)
Monosomy 18q (Orphanet:1600)
Mowat-Wilson syndrome (Orphanet:2152)
Moynahan syndrome (Orphanet:2574)
Muckle-Wells syndrome (Orphanet:575)
Mucopolysaccharidosis type 1 (Orphanet:579)
Mucopolysaccharidosis type 2, attenuated form (Orphanet:217093)
Muenke syndrome (Orphanet:53271)
Multiple epiphyseal dysplasia (Orphanet:251)
Multiple sulfatase deficiency (Orphanet:585)
Mutilating palmoplantar keratoderma with periorificial keratotic plaques (Orphanet:659)
Myoclonus - cerebellar ataxia - deafness (Orphanet:2589)
Myopathy, lactic acidosis, and sideroblastic anemia 1; MLASA1 (OMIM:600462)
N syndrome (Orphanet:2608)
NEUROENDOCRINE CARCINOMA OF SALIVARY GLANDS, SENSORINEURAL HEARINGLOSS, AND ENAMEL HYPOPLASIA (OMIM:603641)
NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET (OMIM:616263)
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA (OMIM:162400)
NEUROPATHY, HEREDITARY SENSORY, TYPE IE (OMIM:614116)
NLRP12-associated hereditary periodic fever syndrome (Orphanet:247868)
NOONAN SYNDROME 1 (OMIM:163950)
Nail-patella syndrome (Orphanet:2614)
Nathalie syndrome (Orphanet:2663)
Neonatal adrenoleukodystrophy (Orphanet:44)
Nephronophthisis-like nephropathy 1 (OMIM:613159)
Nephropathy - deafness - hyperparathyroidism (Orphanet:2668)
Nephrotic syndrome-deafness-pretibial epidermolysis bullosa syndrome (Orphanet:300333)
Neuroectodermal-endocrine syndrome (Orphanet:2676)
Neurofibromatosis type 2 (Orphanet:637)
Neurologic Waardenburg-Shah syndrome (Orphanet:163746)
Neurological conditions associated with aminoacylase 1 deficiency (Orphanet:137754)
Neutral lipid storage disease (Orphanet:165)
Neutral lipid storage myopathy (Orphanet:98908)
Neutropenia - monocytopenia - deafness (Orphanet:2690)
Nonacquired combined pituitary hormone deficiency with spine abnormalities (Orphanet:231720)
Noonan syndrome (Orphanet:648)
Noonan syndrome with multiple lentigines (Orphanet:500)
Norrie disease (Orphanet:649)
OPITZ-KAVEGGIA SYNDROME (OMIM:305450)
OTOFACIOOSSEOUS-GONADAL SYNDROME (OMIM:601976)
Ocular albinism with congenital sensorineural deafness (Orphanet:352740)
Ocular albinism with late-onset sensorineural deafness (Orphanet:1000)
Oculoauriculovertebral spectrum with radial defects (Orphanet:2549)
Oculocerebral hypopigmentation syndrome, Cross type (Orphanet:2719)
Oculofaciocardiodental syndrome (Orphanet:2712)
Oculootodental syndrome (Orphanet:99806)
Oculopharyngodistal myopathy (Orphanet:98897)
Okihiro syndrome (Orphanet:93293)
Opitz G/BBB syndrome (Orphanet:2745)
Osteochondrodysplatic nanism - deafness - retinitis pigmentosa (Orphanet:2653)
Osteopenia - myopia - hearing loss - intellectual deficit - facial dysmorphism (Orphanet:91133)
Otodental syndrome (Orphanet:2791)
Otospondylomegaepiphyseal dysplasia (Orphanet:1427)
PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS (OMIM:614369)
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) (OMIM:214100)
PEROXISOME BIOGENESIS DISORDER 1B (OMIM:601539)
PEROXISOME BIOGENESIS DISORDER 3B (OMIM:266510)
PEROXISOME BIOGENESIS DISORDER 4B (OMIM:614863)
PEROXISOME BIOGENESIS DISORDER 5B (OMIM:614867)
PEROXISOME BIOGENESIS DISORDER 6B (OMIM:614871)
PEROXISOME BIOGENESIS DISORDER 7B (OMIM:614873)
PEROXISOME BIOGENESIS DISORDER 8B (OMIM:614877)
PEROXISOME BIOGENESIS DISORDER 9B (OMIM:614879)
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,AUTOSOMAL DOMINANT, 1 (OMIM:157640)
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,AUTOSOMAL DOMINANT, 2 (OMIM:609283)
PRUNE BELLY SYNDROME WITH PULMONIC STENOSIS, MENTAL RETARDATION, ANDDEAFNESS (OMIM:264140)
Palmoplantar keratoderma-deafness syndrome (Orphanet:2202)
Patterson-Stevenson-Fontaine syndrome (Orphanet:2439)
Pendred syndrome (Orphanet:705)
Peroxisomal acyl-CoA oxidase deficiency (Orphanet:2971)
Perrault Syndrome (Orphanet:2855)
Perrault Syndrome 1 (OMIM:233400)
Perrault Syndrome 2 (OMIM:614926)
Perrault Syndrome 3 (OMIM:614129)
Perrault Syndrome 4 (OMIM:615300)
Perrault Syndrome 5 (OMIM:616138)
Phosphoribosylpyrophosphate synthetase superactivity (Orphanet:3222)
Piebald trait - neurologic defects (Orphanet:2885)
Pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome (Orphanet:254723)
Polyarteritis nodosa, childhood-onset (OMIM:615688)
Polyneuropathy - hearing loss - ataxia - retinitis pigmentosa - cataract (Orphanet:171848)
Pontine tegmental cap dysplasia (Orphanet:269229)
Progeria - short stature - pigmented nevi (Orphanet:2959)
Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome (Orphanet:228012)
Proximal symphalangism (Orphanet:3250)
RETINITIS PIGMENTOSA INVERSA WITH DEAFNESS (OMIM:268010)
RFT1-CDG (Orphanet:244310)
ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 (OMIM:616331)
Radio-ulnar synostosis - amegakaryocytic thrombocytopenia (Orphanet:71289)
Ramon syndrome (Orphanet:3019)
Refsum disease (Orphanet:773)
Relapsing polychondritis (Orphanet:728)
Renal caliceal diverticuli - deafness (Orphanet:2838)
Renal coloboma syndrome (Orphanet:1475)
Renier-Gabreels-Jasper syndrome (Orphanet:93975)
Renpenning syndrome (Orphanet:3242)
Reticular dysgenesis (Orphanet:33355)
Retinitis pigmentosa (Orphanet:791)
Retinitis pigmentosa - intellectual deficit - deafness - hypogenitalism (Orphanet:3085)
Retinohepatoendocrinologic syndrome (Orphanet:3087)
Rhizomelic chondrodysplasia punctata (Orphanet:177)
Rhizomelic chondrodysplasia punctata type 1 (Orphanet:309789)
Riboflavin transporter deficiency (Orphanet:97229)
Richards-Rundle syndrome (Orphanet:1399)
Rosaï-Dorfman disease (Orphanet:158014)
Rothmund-Thomson syndrome (Orphanet:2909)
SHORT syndrome (Orphanet:3163)
SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS,AND DEVELOPMENTAL DELAY (OMIM:616084)
SPONDYLOMEGAEPIPHYSEAL DYSPLASIA WITH UPPER LIMB MESOMELIA, PUNCTATECALCIFICATIONS, AND DEAFNESS (OMIM:609616)
STARGARDT MACULAR DEGENERATION, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM,MENTAL RETARDATION, AND DYSMORPHIC FEATURES (OMIM:612948)
STICKLER SYNDROME, TYPE I (OMIM:108300)
Saethre-Chotzen syndrome (Orphanet:794)
Scheie syndrome (Orphanet:93474)
Schinzel-Giedion syndrome (Orphanet:798)
Sclerosteosis (Orphanet:3152)
Sensorineural deafness with dilated cardiomyopathy (Orphanet:217622)
Sensorineural hearing loss - early graying - essential tremor (Orphanet:66633)
Sensory ataxic neuropathy-dysarthria-ophthalmoparesis (Orphanet:70595)
Septo-optic dysplasia (Orphanet:3157)
Severe combined immunodeficiency (Orphanet:183660)
Severe combined immunodeficiency due to adenosine deaminase deficiency (Orphanet:277)
Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome (Orphanet:369939)
Short chain 3-hydroxyacyl-CoA dehydrogenase deficiency (Orphanet:35123)
Short stature - deafness - neutrophil dysfunction - dysmorphism (Orphanet:2866)
Sialidosis type 1 (Orphanet:812)
Smith-Fineman-Myers syndrome (Orphanet:93974)
Smith-Lemli-Opitz syndrome (Orphanet:818)
Spastic paraparesis - deafness (Orphanet:2815)
Spastic paraplegia - nephritis - deafness (Orphanet:2820)
Spinocerebellar ataxia type 31 (Orphanet:217012)
Spinocerebellar ataxia with epilepsy (Orphanet:254881)
Split hand - split foot - deafness (Orphanet:71271)
Split hand-split foot malformation (Orphanet:2440)
Spondylo-ocular syndrome (Orphanet:85194)
Spondylocarpotarsal synostosis (Orphanet:3275)
Spondyloepiphyseal dysplasia, MacDermot type (Orphanet:163668)
Spondyloperipheral dysplasia - short ulna (Orphanet:1856)
Sporadic Leigh syndrome (Orphanet:255199)
Steinert myotonic dystrophy (Orphanet:273)
Stickler syndrome (Orphanet:828)
Stickler syndrome type 1 (Orphanet:90653)
Stickler syndrome type 2 (Orphanet:90654)
Stickler syndrome type 3 (Orphanet:166100)
Stiff skin syndrome (Orphanet:2833)
Thiamine-responsive megaloblastic anemia syndrome (Orphanet:49827)
Thrombocytopenia - absent radius (Orphanet:3320)
Thyrocerebrorenal syndrome (Orphanet:3327)
Townes-Brocks syndrome (Orphanet:857)
Triple A syndrome (Orphanet:869)
Trisomy 13 (Orphanet:3378)
USHER SYNDROME, TYPE IG (OMIM:606943)
Upper limb defect - eye and ear abnormalities (Orphanet:2489)
Usher syndrome (Orphanet:886)
Usher syndrome type 1 (Orphanet:231169)
Usher syndrome type 2 (Orphanet:231178)
Usher syndrome type 3 (Orphanet:231183)
Uveal coloboma - cleft lip and palate - intellectual deficit (Orphanet:1473)
VAN MALDERGEM SYNDROME 1 (OMIM:601390)
VAN MALDERGEM SYNDROME 2 (OMIM:615546)
Vici syndrome (Orphanet:1493)
Vogt-Koyanagi-Harada disease (Orphanet:3437)
Von Hippel-Lindau disease (Orphanet:892)
WAARDENBURG SYNDROME, TYPE 2B (OMIM:600193)
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 (Orphanet:3440)
Waardenburg syndrome type 2 (Orphanet:895)
Waardenburg syndrome type 3 (Orphanet:896)
Waardenburg-Shah syndrome (Orphanet:897)
Warsaw breakage syndrome (Orphanet:280558)
Weissenbacher- Zweymuller syndrome (Orphanet:3450)
Wildervanck syndrome (Orphanet:3456)
Williams syndrome (Orphanet:904)
Wolf-Hirschhorn syndrome (Orphanet:280)
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)
Worster-Drought syndrome (Orphanet:3465)
X-linked Alport syndrome (Orphanet:88917)
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 5 (Orphanet:99014)
X-linked Charcot-Marie-Tooth disease type 6 (Orphanet:352675)
X-linked dominant chondrodysplasia punctata (Orphanet:35173)
X-linked intellectual deficit - hypotonic face (Orphanet:73220)
X-linked intellectual deficit, Najm type (Orphanet:163937)
X-linked mandibulofacial dysostosis (Orphanet:1131)
X-linked spinocerebellar ataxia type 3 (Orphanet:85297)
Xeroderma pigmentosum (Orphanet:910)
Xeroderma pigmentosum complementation group A (Orphanet:276249)
Xeroderma pigmentosum complementation group B (Orphanet:276252)
Xeroderma pigmentosum complementation group D (Orphanet:276258)
Xeroderma pigmentosum/Cockayne syndrome complex (Orphanet:220295)
Zellweger syndrome (Orphanet:912)
Zellweger-like syndrome without peroxisomal anomalies (Orphanet:50812)