Congenital sensorineural hearing impairment

Symptom Information:

Symptom ID: HPO:0008527
Synonyms:
Bilateral congenital sensorineural deafness [HPO:0008527]
Congenital neurosensory deafness [HPO:0008527]
Congenital perceptive deafness [HPO:0008527]
Congenital sensorineural deafness [HPO:0008527]
Congenital sensorineural hearing loss [HPO:0008527]
Hearing loss, congenital sensorineural [HPO:0008527]
Sensorineural hearing loss [Orphanet:13660]
Sensory hearing loss (disorder) [Orphanet:13660]
Sensorineural hearing loss (disorder) [Orphanet:13660]
Sensory hearing loss [Orphanet:13660]
Sensorineural Hearing Loss (disorder) [Orphanet:13660]
Congenital neurosensory deafness [OMIM:Congenital neurosensory deafness]
Congenital perceptive deafness [OMIM:Congenital perceptive deafness]
Congenital sensorineural deafness [OMIM:Congenital sensorineural deafness]
Congenital sensorineural hearing loss [OMIM:Congenital sensorineural hearing loss]
Hearing loss, congenital sensorineural [OMIM:Hearing loss, congenital sensorineural]
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, congenital sensorineural [OMIM:Deafness, congenital sensorineural]
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)]
Deafness, sensorineural, congenital [OMIM:Deafness, sensorineural, congenital]
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 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:0000407 "Sensorineural hearing impairment" [Orphanet:13660]
Orphanet:13660 "Sensorineural deafness/hearing loss" [Orphanet:13660]
Orphanet:13700 "Central deafness/hearing loss" [Orphanet:13700]
OMIM: "Congenital neurosensory deafness" [OMIM:Congenital neurosensory deafness]
OMIM: "Congenital perceptive deafness" [OMIM:Congenital perceptive deafness]
OMIM: "Congenital sensorineural deafness" [OMIM:Congenital sensorineural deafness]
OMIM: "Congenital sensorineural hearing loss" [OMIM:Congenital sensorineural hearing loss]
OMIM: "Hearing loss, congenital sensorineural" [OMIM:Hearing loss, congenital sensorineural]
OMIM: "Central hearing loss" [OMIM:Central hearing loss]
OMIM: "Deafness, congenital sensorineural" [OMIM:Deafness, congenital sensorineural]
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: "Deafness, sensorineural, congenital" [OMIM:Deafness, sensorineural, congenital]
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 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         Sensorineural hearing impairment
MedDRA Hearing impairment
Orphanet Hearing impairment
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)
                   Congenital sensorineural hearing impairment(HPO:0008527)
          Hearing abnormality(HPO:0000364)
             Hearing impairment(HPO:0000365)
                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)
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)