Hearing impairment

Symptom Information:

Symptom ID: HPO:0000365
Synonyms:
Congenital deafness [HPO:0000365]
Congenital hearing loss [HPO:0000365]
Deafness [HPO:0000365]
Hearing defect [HPO:0000365]
Hearing loss [HPO:0000365]
Hearing loss [Orphanet:13640]
Decreased hearing (finding) [Orphanet:13640]
Hearing loss (disorder) [Orphanet:13640]
hearing impairment [Orphanet:13640]
Deafness [Orphanet:13640]
Congenital deafness [OMIM:Congenital deafness]
Congenital hearing loss [OMIM:Congenital hearing loss]
Deafness [OMIM:Deafness]
Hearing defect [OMIM:Hearing defect]
Hearing impairment [OMIM:Hearing impairment]
Hearing loss [OMIM:Hearing loss]
Hearing loss/hypoacusia/deafness [Orphanet:13640]
Hearing impaired [Orphanet:13640]
Hypoacusis [Orphanet:13640]
Deafness [MedDRA:10011878]
Deaf [MedDRA:10011878]
Deafness NOS [MedDRA:10011878]
Hearing loss [MedDRA:10011878]
High frequency deafness [MedDRA:10011878]
Low frequency deafness [MedDRA:10011878]
No hearing [MedDRA:10011878]
Other specified forms of deafness [MedDRA:10011878]
Other specified forms of hearing loss [MedDRA:10011878]
Unspecified deafness [MedDRA:10011878]
Unspecified hearing loss [MedDRA:10011878]
Deafness (NOS) [MedDRA:10011878]
Deafness total [MedDRA:10011878]
Surdity [MedDRA:10011878]
Deafness toxic [MedDRA:10011878]
Complete hearing loss [MedDRA:10011878]
Hearing impaired [MedDRA:10019245]
Abnormal auditory perception, unspecified [MedDRA:10019245]
Auditory disorder [MedDRA:10019245]
Auditory disorder (NOS) [MedDRA:10019245]
Auditory disorder NOS [MedDRA:10019245]
Impairment of auditory discrimination [MedDRA:10019245]
Other abnormal auditory perception [MedDRA:10019245]
Hearing impairment aggravated [MedDRA:10019245]
Hypoacusis [MedDRA:10048865]
Auditory hypoacuity [MedDRA:10048865]
Hearing decreased [MedDRA:10048865]
Hearing reduced [MedDRA:10048865]
Hypoacuity auditory [MedDRA:10048865]
Muffled hearing in both ears [MedDRA:10048865]
Worsening of auditory acuity [MedDRA:10048865]
Hypoacusis unilateral [MedDRA:10048865]
Hard of hearing [MedDRA:10048865]
Partial hearing loss [MedDRA:10048865]
Congenital hearing loss (1 family) [OMIM:Congenital hearing loss (1 family)]
Deafness (in 1 of 2 families) [OMIM:Deafness (in 1 of 2 families)]
Deafness (in some patients) [OMIM:Deafness (in some patients)]
Deafness (often in third decade) [OMIM:Deafness (often in third decade)]
Deafness (sensorineural or mixed sensorineural and conductive) [OMIM:Deafness (sensorineural or mixed sensorineural and conductive)]
Deafness (variable) [OMIM:Deafness (variable)]
Decreased hearing [OMIM:Decreased hearing]
Hearing impairment (in 1/4 patients) [OMIM:Hearing impairment (in 1/4 patients)]
Hearing impairment (in some patients) [OMIM:Hearing impairment (in some patients)]
Hearing impairment (rare) [OMIM:Hearing impairment (rare)]
Hearing loss (1 patient) [OMIM:Hearing loss (1 patient)]
Hearing loss (2 patients) [OMIM:Hearing loss (2 patients)]
Hearing loss (95% of patients) [OMIM:Hearing loss (95% of patients)]
Hearing loss (CVS+) [OMIM:Hearing loss (CVS+)]
Hearing loss (conductive and/or sensorineural) [OMIM:Hearing loss (conductive and/or sensorineural)]
Hearing loss (in some patients) [OMIM:Hearing loss (in some patients)]
Hearing loss (rare) [OMIM:Hearing loss (rare)]
Hearing loss (reported in 2 patients) [OMIM:Hearing loss (reported in 2 patients)]
Hearing loss (sensorineural, mixed, and conductive) [OMIM:Hearing loss (sensorineural, mixed, and conductive)]
Hearing loss (uncommon) [OMIM:Hearing loss (uncommon)]
Hearing loss (variable) [OMIM:Hearing loss (variable)]
No deafness [OMIM:No deafness]
Hearing losses [MedDRA:10011879]
Deafness congenital [MedDRA:10011882]
Quality:
Cross references:
Orphanet:13640 "Hearing loss/hypoacusia/deafness" [Orphanet:13640]
OMIM: "Congenital deafness" [OMIM:Congenital deafness]
OMIM: "Congenital hearing loss" [OMIM:Congenital hearing loss]
OMIM: "Deafness" [OMIM:Deafness]
OMIM: "Hearing defect" [OMIM:Hearing defect]
OMIM: "Hearing impairment" [OMIM:Hearing impairment]
OMIM: "Hearing loss" [OMIM:Hearing loss]
OMIM: "Congenital hearing loss (1 family)" [OMIM:Congenital hearing loss (1 family)]
OMIM: "Deafness (in 1 of 2 families)" [OMIM:Deafness (in 1 of 2 families)]
OMIM: "Deafness (in some patients)" [OMIM:Deafness (in some patients)]
OMIM: "Deafness (often in third decade)" [OMIM:Deafness (often in third decade)]
OMIM: "Deafness (sensorineural or mixed sensorineural and conductive)" [OMIM:Deafness (sensorineural or mixed sensorineural and conductive)]
OMIM: "Deafness (variable)" [OMIM:Deafness (variable)]
OMIM: "Decreased hearing" [OMIM:Decreased hearing]
OMIM: "Hearing impairment (in 1/4 patients)" [OMIM:Hearing impairment (in 1/4 patients)]
OMIM: "Hearing impairment (in some patients)" [OMIM:Hearing impairment (in some patients)]
OMIM: "Hearing impairment (rare)" [OMIM:Hearing impairment (rare)]
OMIM: "Hearing loss (1 patient)" [OMIM:Hearing loss (1 patient)]
OMIM: "Hearing loss (2 patients)" [OMIM:Hearing loss (2 patients)]
OMIM: "Hearing loss (95% of patients)" [OMIM:Hearing loss (95% of patients)]
OMIM: "Hearing loss (CVS+)" [OMIM:Hearing loss (CVS+)]
OMIM: "Hearing loss (conductive and/or sensorineural)" [OMIM:Hearing loss (conductive and/or sensorineural)]
OMIM: "Hearing loss (in some patients)" [OMIM:Hearing loss (in some patients)]
OMIM: "Hearing loss (rare)" [OMIM:Hearing loss (rare)]
OMIM: "Hearing loss (reported in 2 patients)" [OMIM:Hearing loss (reported in 2 patients)]
OMIM: "Hearing loss (sensorineural, mixed, and conductive)" [OMIM:Hearing loss (sensorineural, mixed, and conductive)]
OMIM: "Hearing loss (uncommon)" [OMIM:Hearing loss (uncommon)]
OMIM: "Hearing loss (variable)" [OMIM:Hearing loss (variable)]
OMIM: "No deafness" [OMIM:No deafness]
UMLS:C0011053 "Deafness" [HPO:0000365]
UMLS:C1384666 "hearing impairment" [Orphanet:13640]
UMLS:C0011053 "Deafness" [Orphanet:13640]
Is a (Direct Parents):
HPO         Mild hearing impairment
HPO         Mid-frequency hearing loss
Orphanet Hearing abnormality
MedDRA Hearing disorders
HPO         Profound hearing impairment
HPO         Hearing abnormality
HPO         Transient hearing impairment
HPO         Moderate hearing impairment
HPO         Severe hearing impairment
MedDRA Hearing disorders congenital
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)
MedDRA:
Ear and labyrinth disorders(MedDRA:10013993)
    Hearing disorders(MedDRA:10019243)
       Hearing impairment(HPO:0000365)
Congenital, familial and genetic disorders(MedDRA:10010331)
    Ear and labyrinthine disorders congenital(MedDRA:10013995)
       Hearing disorders congenital(MedDRA:10019244)
          Hearing impairment(HPO:0000365)
Database Frequency: 539 / 7739
Resource:

All diseases associated with this symptom:

14q22q23 microdeletion syndrome (Orphanet:264200)
15q24 microdeletion syndrome (Orphanet:94065)
16p11.2p12.2 microdeletion syndrome (Orphanet:261211)
16q24.3 microdeletion syndrome (Orphanet:261250)
17p11.2 microduplication syndrome (Orphanet:1713)
17q11.2 microduplication syndrome (Orphanet:139474)
17q12 microdeletion syndrome (Orphanet:261265)
17q23.1q23.2 microdeletion syndrome (Orphanet:261279)
19q13.11 microdeletion syndrome (Orphanet:217346)
1p36 deletion syndrome (Orphanet:1606)
22q11.2 deletion syndrome (Orphanet:567)
22q11.2 microduplication syndrome (Orphanet:1727)
2p15p16.1 microdeletion syndrome (Orphanet:261349)
3-methylglutaconic aciduria type 4 (Orphanet:67048)
3MC SYNDROME 2 (OMIM:265050)
3MC SYNDROME 3 (OMIM:248340)
3q29 microduplication (Orphanet:251038)
46,XX gonadal dysgenesis (Orphanet:243)
4q21 microdeletion syndrome (Orphanet:238750)
6p22 microdeletion syndrome (Orphanet:251046)
8p23.1 microduplication syndrome (Orphanet:251076)
8q21.11 microdeletion syndrome (Orphanet:284160)
ABCD SYNDROME (OMIM:600501)
ACRODYSOSTOSIS 1 WITH OR WITHOUT HORMONE RESISTANCE (OMIM:101800)
AGAMMAGLOBULINEMIA, X-LINKED (OMIM:300755)
ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME (OMIM:615510)
ANUS, IMPERFORATE (OMIM:301800)
ATAXIA, DEAFNESS, AND CARDIOMYOPATHY (OMIM:208750)
ATTRV122I amyloidosis (Orphanet:85451)
AUROCEPHALOSYNDACTYLY (OMIM:109050)
AXENFELD-RIEGER SYNDROME, TYPE 2 (OMIM:601499)
Ablepharon macrostomia syndrome (Orphanet:920)
Abruzzo-Erickson syndrome (Orphanet:921)
Acro-oto-ocular syndrome (Orphanet:2980)
Acrocallosal syndrome (Orphanet:36)
Acrodysostosis (Orphanet:950)
Acrodysostosis with multiple hormone resistance (Orphanet:280651)
Acroosteolysis, dominant type (Orphanet:955)
Adrenomyeloneuropathy (Orphanet:139399)
Adult-onset autosomal dominant leukodystrophy (Orphanet:99027)
Albers-Schönberg osteopetrosis (Orphanet:53)
Albright hereditary osteodystrophy (Orphanet:665)
Alopecia - epilepsy - pyorrhea - intellectual deficit (Orphanet:1008)
Alopecia-intellectual deficit syndrome (Orphanet:2850)
Alpers syndrome (Orphanet:726)
Alpha-N-acetylgalactosaminidase deficiency (Orphanet:3137)
Alpha-N-acetylgalactosaminidase deficiency type 1 (Orphanet:79279)
Alpha-N-acetylgalactosaminidase deficiency type 2 (Orphanet:79280)
Alpha-mannosidosis (Orphanet:61)
Alport syndrome - intellectual deficit - midface hypoplasia - elliptocytosis (Orphanet:86818)
Alström syndrome (Orphanet:64)
Amish infantile epilepsy syndrome (Orphanet:171714)
Apert syndrome (Orphanet:87)
Arachnoiditis (Orphanet:137817)
Arnold-Chiari malformation type I (Orphanet:268882)
Arterial calcification, generalized, of infancy, 1 (OMIM:208000)
Arthrogryposis - renal dysfunction - cholestasis (Orphanet:2697)
Arthrogryposis-like hand anomaly - sensorineural deafness (Orphanet:1144)
Ataxia-deafness-retardation syndrome (Orphanet:1188)
Autosomal dominant Charcot-Marie-Tooth disease type 2A2 (Orphanet:99947)
Autosomal dominant Charcot-Marie-Tooth disease type 2J (Orphanet:99943)
Autosomal dominant Robinow syndrome (Orphanet:3107)
Autosomal dominant aplasia and myelodysplasia (Orphanet:314399)
Autosomal dominant spastic paraplegia type 4 (Orphanet:100985)
Autosomal recessive Alport syndrome (Orphanet:88919)
Autosomal recessive Robinow syndrome (Orphanet:1507)
Autosomal recessive cerebellar ataxia - blindness - deafness (Orphanet:95433)
Autosomal recessive facio-digito-genital syndrome (Orphanet:1974)
Autosomal recessive malignant osteopetrosis (Orphanet:667)
Autosomal recessive multiple pterygium syndrome (Orphanet:2990)
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency (Orphanet:331176)
Autosomal recessive spastic ataxia with leukoencephalopathy (Orphanet:314603)
Autosomal recessive spastic paraplegia type 46 (Orphanet:320391)
Autosomal recessive spastic paraplegia type 48 (Orphanet:306511)
Autosomal recessive spastic paraplegia type 7 (Orphanet:99013)
Axenfeld-Rieger syndrome (Orphanet:782)
BARAITSER-WINTER SYNDROME 2 (OMIM:614583)
BOR syndrome (Orphanet:107)
BRACHYDACTYLY, COLOBOMA, AND ANTERIOR SEGMENT DYSGENESIS (OMIM:610023)
BRACHYPHALANGY, POLYDACTYLY, AND TIBIAL APLASIA/HYPOPLASIA (OMIM:609945)
BRANCHIOOTIC SYNDROME 2 (OMIM:120502)
BRANCHIOOTORENAL SYNDROME 1 (OMIM:113650)
BRANCHIOOTORENAL SYNDROME 2 (OMIM:610896)
BRESEK syndrome (Orphanet:85284)
BRITTLE CORNEA SYNDROME 1 (OMIM:229200)
BRITTLE CORNEA SYNDROME 2 (OMIM:614170)
Barber-Say syndrome (Orphanet:1231)
Bardet-Biedl syndrome (Orphanet:110)
Bardet-Biedl syndrome 1 (OMIM:209900 )
Bardet-Biedl syndrome 10 (OMIM:615987)
Bardet-Biedl syndrome 12 (OMIM:615989)
Bardet-Biedl syndrome 5 (OMIM:615983)
Bardet-Biedl syndrome 6 (OMIM:605231)
Benign recurrent intrahepatic cholestasis (Orphanet:65682)
Beta-mannosidosis (Orphanet:118)
Beta-thalassemia major (Orphanet:231214)
Biotinidase deficiency (Orphanet:79241)
Blepharonasofacial malformation syndrome (Orphanet:1252)
Blepharophimosis-intellectual deficit syndrome, MKB type (Orphanet:293707)
Blepharophimosis-intellectual deficit syndrome, Ohdo type (Orphanet:2728)
Bohring-Opitz syndrome (Orphanet:97297)
Borjeson-Forssman-Lehmann syndrome (Orphanet:127)
Brachytelephalangic chondrodysplasia punctata (Orphanet:79345)
Branchio-otic syndrome (Orphanet:52429)
Branchiogenic deafness syndrome (Orphanet:50815)
Brittle cornea syndrome (Orphanet:90354)
Buschke-Ollendorff syndrome (Orphanet:1306)
CADASIL (Orphanet:136)
CAMPOMELIC DYSPLASIA (OMIM:114290)
CARDIOAUDITORY SYNDROME OF SANCHEZ CASCOS (OMIM:212100)
CARDIOFACIOCUTANEOUS SYNDROME 1 (OMIM:115150)
CEREBRAL SCLEROSIS, DIFFUSE, SCHOLZ TYPE (OMIM:302700)
CEREBROOCULOFACIOSKELETAL SYNDROME 2 (OMIM:610756)
CHARGE syndrome (Orphanet:138)
CHILD syndrome (Orphanet:139)
CHONDRODYSPLASIA PUNCTATA 1, X-LINKED RECESSIVE (OMIM:302950)
CHST3-related skeletal dysplasia (Orphanet:263463)
CILIARY DYSKINESIA, PRIMARY, 2 (OMIM:606763)
CINCA syndrome (Orphanet:1451)
CLEIDOCRANIAL DYSPLASIA (OMIM:119600)
COCKAYNE SYNDROME, TYPE III (OMIM:216411)
COFFIN-SIRIS SYNDROME (OMIM:135900)
COFS syndrome (Orphanet:1466)
CORNEAL DEGENERATION, RIBBONLIKE, WITH DEAFNESS (OMIM:121450)
CORNELIA DE LANGE SYNDROME 5 (OMIM:300882)
COWDEN SYNDROME 5 (OMIM:615108)
COWDEN SYNDROME 6 (OMIM:615109)
CRYSTALLIN, MU (OMIM:123740)
CYCLIC VOMITING SYNDROME (OMIM:500007)
Campomelic dysplasia (Orphanet:140)
Camptodactyly - tall stature - scoliosis - hearing loss (Orphanet:85164)
Camurati-Engelmann disease (Orphanet:1328)
Canavan disease (Orphanet:141)
Cardiofaciocutaneous syndrome (Orphanet:1340)
Carney-Stratakis syndrome (Orphanet:97286)
Cat-eye syndrome (Orphanet:195)
Cenani-Lenz syndrome (Orphanet:3258)
Central nervous system calcification - deafness - tubular acidosis - anemia (Orphanet:3240)
Char syndrome (Orphanet:46627)
Charcot-Marie-Tooth disease type 1A (Orphanet:101081)
Charcot-Marie-Tooth disease type 4C (Orphanet:99949)
Charcot-Marie-Tooth disease type 4D (Orphanet:99950)
Chondrodysplasia with joint dislocations, gPAPP type (Orphanet:280586)
Cleft lip/palate - deafness - sacral lipoma (Orphanet:2003)
Cleidocranial dysplasia (Orphanet:1452)
Cochleosaccular degeneration - cataract (Orphanet:3233)
Cockayne syndrome (Orphanet:191)
Coffin-Siris syndrome (Orphanet:1465)
Cogan syndrome (Orphanet:1467)
Combined oxidative phosphorylation defect type 11 (Orphanet:324535)
Combined oxidative phosphorylation defect type 14 (Orphanet:319519)
Combined oxidative phosphorylation defect type 17 (Orphanet:369913)
Congenital cataract-hearing loss-severe developmental delay syndrome (Orphanet:300313)
Congenital hereditary facial paralysis with variable hearing loss (Orphanet:306530)
Congenital hypothyroidism (Orphanet:442)
Congenital non-bullous ichthyosiform erythroderma (Orphanet:79394)
Congenital toxoplasmosis (Orphanet:858)
Congenital velopharyngeal incompetence (Orphanet:2291)
Connective tissue disorder due to lysyl hydroxylase-3 deficiency (Orphanet:300284)
Corneal dystrophy - perceptive deafness (Orphanet:1490)
Cowden syndrome (Orphanet:201)
Coxoauricular syndrome (Orphanet:1508)
Craniodiaphyseal dysplasia (Orphanet:1513)
Craniofacial-ulnar-renal syndrome (Orphanet:293843)
Craniosynostosis - anal anomalies - porokeratosis (Orphanet:85199)
Crigler-Najjar syndrome (Orphanet:205)
Crigler-Najjar syndrome type 1 (Orphanet:79234)
Crouzon disease (Orphanet:207)
DEAFNESS, AUTOSOMAL DOMINANT 15 (OMIM:602459)
DEAFNESS, AUTOSOMAL DOMINANT 2A (OMIM:600101)
DEAFNESS, AUTOSOMAL DOMINANT 4B (OMIM:614614)
DEAFNESS, AUTOSOMAL DOMINANT 51 (OMIM:613558)
DEAFNESS, AUTOSOMAL DOMINANT 52 (OMIM:607683)
DEAFNESS, AUTOSOMAL DOMINANT 54 (OMIM:615649)
DEAFNESS, AUTOSOMAL DOMINANT 56 (OMIM:615629)
DEAFNESS, AUTOSOMAL DOMINANT 58 (OMIM:615654)
DEAFNESS, AUTOSOMAL RECESSIVE 15 (OMIM:601869)
DEAFNESS, AUTOSOMAL RECESSIVE 18B (OMIM:614945)
DEAFNESS, AUTOSOMAL RECESSIVE 1B (OMIM:612645)
DEAFNESS, AUTOSOMAL RECESSIVE 20 (OMIM:604060)
DEAFNESS, AUTOSOMAL RECESSIVE 25 (OMIM:613285)
DEAFNESS, AUTOSOMAL RECESSIVE 29 (OMIM:614035)
DEAFNESS, AUTOSOMAL RECESSIVE 32 (OMIM:608653)
DEAFNESS, AUTOSOMAL RECESSIVE 6 (OMIM:600971)
DEAFNESS, AUTOSOMAL RECESSIVE 63 (OMIM:611451)
DEAFNESS, AUTOSOMAL RECESSIVE 65 (OMIM:610248)
DEAFNESS, AUTOSOMAL RECESSIVE 70 (OMIM:614934)
DEAFNESS, AUTOSOMAL RECESSIVE 74 (OMIM:613718)
DEAFNESS, AUTOSOMAL RECESSIVE 77 (OMIM:613079)
DEAFNESS, AUTOSOMAL RECESSIVE 84A (OMIM:613391)
DEAFNESS, AUTOSOMAL RECESSIVE 84B (OMIM:614944)
DEAFNESS, AUTOSOMAL RECESSIVE 86 (OMIM:614617)
DEAFNESS, AUTOSOMAL RECESSIVE 88 (OMIM:615429)
DEAFNESS, AUTOSOMAL RECESSIVE 89 (OMIM:613916)
DEAFNESS, AUTOSOMAL RECESSIVE 93 (OMIM:614899)
DEAFNESS, AUTOSOMAL RECESSIVE 96 (OMIM:614414)
DEAFNESS, CATARACT, RETINITIS PIGMENTOSA, AND SPERM ABNORMALITIES (OMIM:300719)
DEAFNESS, CONGENITAL, AND FAMILIAL MYOCLONIC EPILEPSY (OMIM:220300)
DEAFNESS, CONGENITAL, WITH TOTAL ALBINISM (OMIM:220900)
DEAFNESS, NEURAL, CONGENITAL MODERATE (OMIM:221500)
DEAFNESS, X-LINKED 6 (OMIM:300914)
DWARFISM, LOW-BIRTH-WEIGHT TYPE, WITH UNRESPONSIVENESS TO GROWTH HORMONE (OMIM:223500)
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 3 (OMIM:613990)
Deafness , X-linked 1 (OMIM:304500)
Deafness - enamel hypoplasia - nail defects (Orphanet:3220)
Deafness - epiphyseal dysplasia - short stature (Orphanet:3218)
Deafness - intellectual deficit, Martin-Probst type (Orphanet:85321)
Deafness - vitiligo - achalasia (Orphanet:3239)
Deafness, autosomal dominant 41 (OMIM:608224)
Deafness-craniofacial syndrome (Orphanet:3241)
Diabetic embryopathy (Orphanet:1926)
Diastrophic dwarfism (Orphanet:628)
Disorder of sex development - intellectual deficit (Orphanet:2983)
Distal monosomy 3p (Orphanet:1620)
Distal monosomy 6p (Orphanet:96125)
Distal trisomy 14q (Orphanet:1705)
Duane retraction syndrome (Orphanet:233)
Dubowitz syndrome (Orphanet:235)
Dyschromatosis universalis (Orphanet:241)
Dyskeratosis congenita (Orphanet:1775)
Dysosteosclerosis (Orphanet:1782)
Dystrophic epidermolysis bullosa (Orphanet:303)
ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME1 (OMIM:129900)
ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME3 (OMIM:604292)
EHLERS-DANLOS SYNDROME, BEASLEY-COHEN TYPE (OMIM:608763)
EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1 (OMIM:601776)
EPIPHYSEAL DYSPLASIA OF FEMORAL HEAD, MYOPIA, AND DEAFNESS (OMIM:226950)
Ear-patella-short stature syndrome (Orphanet:2554)
Ectodermal dysplasia - blindness (Orphanet:1806)
Ehlers-Danlos syndrome, musculocontractural type (Orphanet:2953)
Emanuel syndrome (Orphanet:96170)
Embryofetopathy due to oral anticoagulant therapy (Orphanet:1914)
Encephalopathy due to hydroxykynureninuria (Orphanet:79155)
Epidermolysis bullosa simplex with anodontia/hypodontia (Orphanet:2325)
Erythrokeratodermia variabilis (Orphanet:317)
FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 2 (OMIM:158901)
FANCONI ANEMIA, COMPLEMENTATION GROUP A (OMIM:227650)
FANCONI ANEMIA, COMPLEMENTATION GROUP C (OMIM:227645)
FANCONI ANEMIA, COMPLEMENTATION GROUP D2 (OMIM:227646)
FANCONI ANEMIA, COMPLEMENTATION GROUP E (OMIM:600901)
FANCONI ANEMIA, COMPLEMENTATION GROUP P (OMIM:613951)
FEINGOLD SYNDROME 1 (OMIM:164280)
Fabry disease (Orphanet:324)
Familial amyloid polyneuropathy (Orphanet:85447)
Familial dementia, Danish type (Orphanet:97346)
Fanconi anemia (Orphanet:84)
Fatal infantile lactic acidosis with methylmalonic aciduria (Orphanet:17)
Feingold syndrome (Orphanet:1305)
Fetal iodine syndrome (Orphanet:1910)
Fetal methylmercury syndrome (Orphanet:1917)
Fibrodysplasia ossificans progressiva (Orphanet:337)
Fibrous dysplasia of bone (Orphanet:249)
Fine-Lubinsky syndrome (Orphanet:1272)
Fragile X-associated tremor/ataxia syndrome (Orphanet:93256)
Freeman-Sheldon syndrome (Orphanet:2053)
Friedreich ataxia 1 (OMIM:229300)
Fucosidosis (Orphanet:349)
GAPO syndrome (Orphanet:2067)
GRACILE syndrome (Orphanet:53693)
Galactosialidosis (Orphanet:351)
Gaucher disease (Orphanet:355)
Gaucher disease - ophthalmoplegia - cardiovascular calcification (Orphanet:2072)
Geleophysic dysplasia (Orphanet:2623)
Genitopatellar syndrome (Orphanet:85201)
Giant cell arteritis (Orphanet:397)
Glycogen storage disease due to acid maltase deficiency (Orphanet:365)
Glycogen storage disease due to acid maltase deficiency, late-onset (Orphanet:420429)
Goldenhar syndrome (Orphanet:374)
Gordon syndrome (Orphanet:376)
Growth hormone insensitivity syndrome (Orphanet:181393)
HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2 (OMIM:616006)
HYPERLIPOPROTEINEMIA, TYPE II, AND DEAFNESS (OMIM:144300)
HYPEROSTOSIS CORTICALIS GENERALISATA (OMIM:239100)
HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA (OMIM:615266)
HYPOGONADOTROPIC HYPOGONADISM 18 WITH OR WITHOUT ANOSMIA (OMIM:615267)
HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA (OMIM:615269)
HYPOGONADOTROPIC HYPOGONADISM 21 WITH OR WITHOUT ANOSMIA (OMIM:615271)
HYPOGONADOTROPIC HYPOGONADISM 3 WITH OR WITHOUT ANOSMIA (OMIM:244200)
Hennekam-Beemer syndrome (Orphanet:2135)
Hereditary acrokeratotic poikiloderma, Weary type (Orphanet:2907)
Hidrotic ectodermal dysplasia, Halal type (Orphanet:1809)
Hirschsprung disease - deafness - polydactyly (Orphanet:2155)
Holoprosencephaly - radial heart renal anomalies (Orphanet:3186)
Hurler syndrome (Orphanet:93473)
Hurler-Scheie syndrome (Orphanet:93476)
Hyperostosis corticalis generalisata (Orphanet:3416)
Hypertelorism-preauricular sinus-punctual pits-deafness syndrome (Orphanet:293958)
Hypertrichosis lanuginosa congenita (Orphanet:2222)
Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation (Orphanet:324525)
Hypomyelination with atrophy of basal ganglia and cerebellum (Orphanet:139441)
Hypophosphatemic rickets, autosomal recessive, 2 (OMIM:613312)
Hypospadias - hypertelorism - coloboma and deafness (Orphanet:157788)
IVIC syndrome (Orphanet:2307)
Ichthyosis follicularis - alopecia - photophobia (Orphanet:2273)
Infantile Refsum disease (Orphanet:772)
Infantile neuroaxonal dystrophy (Orphanet:35069)
Infantile onset spinocerebellar ataxia (Orphanet:1186)
Intellectual deficit - cataracts - calcified pinnae - myopathy (Orphanet:3042)
Intellectual deficit, X-linked, Abidi type (Orphanet:85273)
Intellectual deficit, X-linked, Schimke type (Orphanet:85285)
Isolated CoQ-cytochrome C reductase deficiency (Orphanet:1460)
Isolated Klippel-Feil syndrome (Orphanet:2345)
Isolated brachycephaly (Orphanet:35099)
Isolated plagiocephaly (Orphanet:35098)
Joubert syndrome 21 (OMIM:615636)
Juvenile Paget disease (Orphanet:2801)
KABUKI SYNDROME 1 (OMIM:147920)
KBG syndrome (Orphanet:2332)
KID syndrome (Orphanet:477)
KRABBE DISEASE (OMIM:245200)
Kabuki syndrome (Orphanet:2322)
Kearns-Sayre syndrome (Orphanet:480)
Kenny-Caffey syndrome (Orphanet:2333)
Keratoderma hereditarium mutilans (Orphanet:494)
Keutel syndrome (Orphanet:85202)
Kleefstra syndrome (Orphanet:261494)
Kleefstra syndrome due to 9q34 microdeletion (Orphanet:96147)
Kniest dysplasia (Orphanet:485)
Knuckle pads-leuconychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome (Orphanet:2698)
Krabbe disease (Orphanet:487)
L-2-hydroxyglutaric aciduria (Orphanet:79314)
Langer-Giedion syndrome (Orphanet:502)
Lassa fever (Orphanet:99824)
Lathosterolosis (Orphanet:46059)
Leber congenital amaurosis (Orphanet:65)
Leber plus disease (Orphanet:99718)
Leigh syndrome (Orphanet:506)
Lethal ataxia with deafness and optic atrophy (Orphanet:1187)
Lhermitte-Duclos disease (Orphanet:65285)
Locked-in syndrome (Orphanet:2406)
MEIER-GORLIN SYNDROME 1 (OMIM:224690)
MELAS (Orphanet:550)
MERRF (Orphanet:551)
MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:608716)
MICROCEPHALY, GROWTH RETARDATION, CATARACT, HEARING LOSS, AND UNUSUALAPPEARANCE (OMIM:612947)
MICROPHTHALMIA, SYNDROMIC 1 (OMIM:309800)
MICROPHTHALMIA, SYNDROMIC 7 (OMIM:309801)
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2 (OMIM:615157)
MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE) (OMIM:613662)
MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY (OMIM:616277)
MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2 (OMIM:614114)
MURCS association (Orphanet:2578)
MYASTHENIC SYNDROME, CONGENITAL, 7, PRESYNAPTIC (OMIM:616040)
Mandibuloacral dysplasia (Orphanet:2457)
Mandibuloacral dysplasia with type A lipodystrophy (Orphanet:90153)
Marshall-Smith syndrome (Orphanet:561)
McCune-Albright syndrome (Orphanet:562)
Meniere disease (Orphanet:45360)
Mesomelia-synostoses syndrome (Orphanet:2496)
Metaphyseal chondrodysplasia, Jansen type (Orphanet:33067)
Metaphyseal chondrodysplasia, Schmid type (Orphanet:174)
Microbrachycephaly - ptosis - cleft lip (Orphanet:2511)
Microcephaly - deafness - intellectual deficit (Orphanet:2533)
Microcephaly-capillary malformation syndrome (Orphanet:294016)
Microphthalmia with brain and digit anomalies (Orphanet:139471)
Microphthalmia with linear skin defects syndrome (Orphanet:2556)
Microphthalmia, Lenz type (Orphanet:568)
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria (Orphanet:1933)
Mitochondrial DNA depletion syndrome, myopathic form (Orphanet:254875)
Mitochondrial encephalo-cardio-myopathy due to TMEM70 deficiency (Orphanet:1194)
Moebius syndrome (Orphanet:570)
Mohr-Tranebjaerg syndrome (Orphanet:52368)
Monosomy 22q13 (Orphanet:48652)
Monosomy 5p (Orphanet:281)
Mosaic trisomy 8 (Orphanet:96061)
Muckle-Wells syndrome (Orphanet:575)
Mucopolysaccharidosis type 1 (Orphanet:579)
Mucopolysaccharidosis type 2 (Orphanet:580)
Mucopolysaccharidosis type 2, severe form (Orphanet:217085)
Mucopolysaccharidosis type 3 (Orphanet:581)
Mucopolysaccharidosis type 4 (Orphanet:582)
Mucopolysaccharidosis type 4A (Orphanet:309297)
Mucopolysaccharidosis type 4B (Orphanet:309310)
Mucopolysaccharidosis type 6 (Orphanet:583)
Mucopolysaccharidosis type 7 (Orphanet:584)
Multiple carboxylase deficiency (Orphanet:148)
Multiple congenital anomalies-hypotonia-seizures syndrome type 2 (Orphanet:300496)
Multiple sulfatase deficiency (Orphanet:585)
Mycophenolate mofetil embryopathy (Orphanet:268249)
Myhre syndrome (Orphanet:2588)
Myoclonus - cerebellar ataxia - deafness (Orphanet:2589)
N syndrome (Orphanet:2608)
NARP syndrome (Orphanet:644)
Nager syndrome (Orphanet:245)
Nail-patella syndrome (Orphanet:2614)
Nathalie syndrome (Orphanet:2663)
Necrotizing encephalomyelopathy, subacute, of Leigh, adult (OMIM:161700)
Nephrosis - deafness - urinary tract - digital malformations (Orphanet:2669)
Neurofibromatosis type 1 (Orphanet:636)
Neurofibromatosis type 2 (Orphanet:637)
Neutral lipid storage disease (Orphanet:165)
Noonan syndrome (Orphanet:648)
Noonan syndrome-like disorder with loose anagen hair (Orphanet:2701)
OPTICOCOCHLEODENTATE DEGENERATION (OMIM:258700)
OSTEOGENESIS IMPERFECTA, TYPE III (OMIM:259420)
OSTEOGENESIS IMPERFECTA, TYPE IV (OMIM:166220)
OSTEOGENESIS IMPERFECTA, TYPE XVI (OMIM:616229)
OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1 (OMIM:259700)
OTOSCLEROSIS 3 (OMIM:608244)
OTOSCLEROSIS 7 (OMIM:611572)
OTOSCLEROSIS 8 (OMIM:612096)
Ocular albinism with congenital sensorineural deafness (Orphanet:352740)
Oculo-palato-cerebral syndrome (Orphanet:2714)
Oculocerebral hypopigmentation syndrome, Preus type (Orphanet:2720)
Oculocerebrocutaneous syndrome (Orphanet:1647)
Oculodentodigital dysplasia (Orphanet:2710)
Oculofaciocardiodental syndrome (Orphanet:2712)
Olivopontocerebellar atrophy - deafness (Orphanet:2732)
Orofaciodigital syndrome type 1 (Orphanet:2750)
Osteodysplasty, Melnick-Needles type (Orphanet:2484)
Osteogenesis imperfecta (Orphanet:666)
Osteogenesis imperfecta type 1 (Orphanet:216796)
Osteogenesis imperfecta type 3 (Orphanet:216812)
Osteogenesis imperfecta type 4 (Orphanet:216820)
Osteopetrosis (Orphanet:2781)
Osteosclerosis - developmental delay - craniosynostosis (Orphanet:178377)
Otopalatodigital syndrome (Orphanet:669)
Otopalatodigital syndrome type 1 (Orphanet:90650)
Otopalatodigital syndrome type 2 (Orphanet:90652)
PAGET DISEASE OF BONE 1 (OMIM:167250)
PAGET DISEASE OF BONE 4 (OMIM:606263)
PELIZAEUS-MERZBACHER DISEASE (OMIM:312080)
PONTOCEREBELLAR HYPOPLASIA, TYPE 1C (OMIM:616081)
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,AUTOSOMAL DOMINANT, 5 (OMIM:613077)
PULMONIC STENOSIS AND DEAFNESS (OMIM:178651)
Palmoplantar keratoderma-deafness syndrome (Orphanet:2202)
Partial acquired lipodystrophy (Orphanet:79087)
Pelizaeus-Merzbacher disease (Orphanet:702)
Pelvis-shoulder dysplasia (Orphanet:2839)
Perinatal lethal hypophosphatasia (Orphanet:247623)
Perrault Syndrome (Orphanet:2855)
Pfeiffer syndrome type 1 (Orphanet:93258)
Pfeiffer syndrome type 3 (Orphanet:93260)
Piebald trait - neurologic defects (Orphanet:2885)
Piebaldism (Orphanet:2884)
Pili torti (Orphanet:2889)
Polyarteritis nodosa, childhood-onset (OMIM:615688)
Polyostotic fibrous dysplasia (Orphanet:93276)
Pontine tegmental cap dysplasia (Orphanet:269229)
Pontocerebellar hypoplasia type 3 (Orphanet:97249)
Progeria - short stature - pigmented nevi (Orphanet:2959)
Prolidase deficiency (Orphanet:742)
Proteus-like syndrome (Orphanet:2969)
Proximal tubulopathy - diabetes mellitus - cerebellar ataxia (Orphanet:3390)
RAPADILINO syndrome (Orphanet:3021)
RAPP-HODGKIN SYNDROME (OMIM:129400)
RETINAL VENOUS BEADING (OMIM:180080)
Ramon syndrome (Orphanet:3019)
Rasmussen-Johnsen-Thomsen syndrome (Orphanet:3023)
Recessive dystrophic epidermolysis bullosa inversa (Orphanet:79409)
Recombinant 8 syndrome (Orphanet:96167)
Renal coloboma syndrome (Orphanet:1475)
Renal cysts and diabetes syndrome (Orphanet:93111)
Renal tubulopathy - encephalopathy - liver failure (Orphanet:254902)
Renal-genital-middle ear anomalies (Orphanet:1092)
Renpenning syndrome (Orphanet:3242)
Reticular dysgenesis (Orphanet:33355)
Richards-Rundle syndrome (Orphanet:1399)
Rothmund-Thomson syndrome (Orphanet:2909)
Rubinstein-Taybi syndrome (Orphanet:783)
Rubinstein-Taybi syndrome due to CREBBP mutations (Orphanet:353277)
SCLEROSTEOSIS 2 (OMIM:614305)
SEBASTIAN SYNDROME (OMIM:605249)
Saethre-Chotzen syndrome (Orphanet:794)
Sandhoff disease (Orphanet:796)
Sanfilippo syndrome type A (Orphanet:79269)
Sanfilippo syndrome type B (Orphanet:79270)
Sanfilippo syndrome type C (Orphanet:79271)
Sanfilippo syndrome type D (Orphanet:79272)
Sclerosteosis (Orphanet:3152)
Severe Canavan disease (Orphanet:314911)
Severe X-linked intellectual deficit, Gustavson type (Orphanet:3078)
Severe combined immunodeficiency due to adenosine deaminase deficiency (Orphanet:277)
Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia (Orphanet:632)
Simpson-Golabi-Behmel syndrome (Orphanet:373)
Sinoatrial node dysfunction and deafness (Orphanet:324321)
Smith-Lemli-Opitz syndrome (Orphanet:818)
Smith-Magenis syndrome (Orphanet:819)
Sneddon syndrome (Orphanet:820)
Spastic paraparesis - deafness (Orphanet:2815)
Spastic tetraplegia - retinitis pigmentosa - intellectual deficit (Orphanet:3011)
Split hand-split foot malformation (Orphanet:2440)
Spondyloepiphyseal dysplasia congenita (Orphanet:94068)
Stern-Lubinsky-Durrie syndrome (Orphanet:3194)
Stickler syndrome (Orphanet:828)
Symphalangism with multiple anomalies of hands and feet (Orphanet:3246)
THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL RECESSIVE (OMIM:274300)
TIBIA, ABSENCE OF, WITH CONGENITAL DEAFNESS (OMIM:275230)
TUNE DEAFNESS (OMIM:191200)
Tay-Sachs disease (Orphanet:845)
Tetrasomy 12p (Orphanet:884)
Thalidomide embryopathy (Orphanet:3312)
Thanatophoric dysplasia (Orphanet:2655)
Thanatophoric dysplasia type 1 (Orphanet:1860)
Thanatophoric dysplasia type 2 (Orphanet:93274)
Tietz syndrome (Orphanet:42665)
Toriello-Carey syndrome (Orphanet:3338)
Townes-Brocks syndrome (Orphanet:857)
Transketolase deficiency (ORPHA:488618)
Trisomy 17p (Orphanet:261290)
USHER SYNDROME, TYPE ID (OMIM:601067)
USHER SYNDROME, TYPE IID (OMIM:611383)
USHER SYNDROME, TYPE IIIB (OMIM:614504)
Upper limb defect - eye and ear abnormalities (Orphanet:2489)
Viral hemorrhagic fever (Orphanet:341)
Von Hippel-Lindau disease (Orphanet:892)
W syndrome (Orphanet:2804)
Waardenburg syndrome (Orphanet:3440)
Waardenburg syndrome type 1 (Orphanet:894)
Waardenburg syndrome type 2 (Orphanet:895)
Waardenburg syndrome type 3 (Orphanet:896)
Waardenburg-Shah syndrome (Orphanet:897)
Waldenström macroglobulinemia (Orphanet:33226)
Warsaw breakage syndrome (Orphanet:280558)
Weaver-Williams syndrome (Orphanet:3448)
Wiedemann-Rautenstrauch syndrome (Orphanet:3455)
Wildervanck syndrome (Orphanet:3456)
Wolf-Hirschhorn syndrome (Orphanet:280)
Wolfram syndrome 1 (OMIM:222300)
Wolfram syndrome 2 (OMIM:604928)
Wolfram syndrome, mitochondrial form (OMIM:598500)
Woodhouse-Sakati syndrome (Orphanet:3464)
Wyburn-Mason syndrome (Orphanet:53719)
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 cerebral adrenoleukodystrophy (Orphanet:139396)
X-linked dominant chondrodysplasia punctata (Orphanet:35173)
X-linked hereditary sensory and autonomic neuropathy with deafness (Orphanet:139583)
X-linked hypophosphatemia (Orphanet:89936)
X-linked mandibulofacial dysostosis (Orphanet:1131)
XFE PROGEROID SYNDROME (OMIM:610965)
XYLOSIDASE DEFICIENCY (OMIM:278900)
Xeroderma pigmentosum (Orphanet:910)
Xeroderma pigmentosum complementation group F (Orphanet:276264)
Xeroderma pigmentosum/Cockayne syndrome complex (Orphanet:220295)
Yunis-Varon syndrome (Orphanet:3472)
Zimmermann-Laband syndrome (Orphanet:3473)
Zunich-Kaye syndrome (Orphanet:3474)