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):
MedDRA Hearing disorders congenital
HPO         Severe hearing impairment
MedDRA Hearing disorders
HPO         Transient hearing impairment
HPO         Hearing abnormality
HPO         Mid-frequency hearing loss
HPO         Moderate hearing impairment
Orphanet Hearing abnormality
HPO         Mild hearing impairment
HPO         Profound hearing impairment
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)