At a Glance
Otitis media, susceptibility to;
ABCD syndrome;
Abortive cerebellar ataxia
more...
⨉
Otitis media, susceptibility to
ABCD syndrome
Abortive cerebellar ataxia
Achondrogenesis type II
Achondroplasia
Acyl-CoA oxidase deficiency
Aldosterone-producing adenoma with seizures and neurological abnormalities
Alstrom syndrome
Alternating hemiplegia of childhood 2
Alveolar rhabdomyosarcoma
Arts syndrome
Atrial fibrillation, familial, 3
Atrophia bulborum hereditaria
Auditory neuropathy-optic atrophy syndrome
Aural atresia, congenital
Autosomal dominant Alport syndrome
Autosomal dominant Charcot-Marie-Tooth disease type 2W
Autosomal dominant auditory neuropathy 1
Autosomal dominant keratitis-ichthyosis-hearing loss syndrome
Autosomal dominant nonsyndromic hearing loss 1
Autosomal dominant nonsyndromic hearing loss 10
Autosomal dominant nonsyndromic hearing loss 11
Autosomal dominant nonsyndromic hearing loss 12
Autosomal dominant nonsyndromic hearing loss 13
Autosomal dominant nonsyndromic hearing loss 15
Autosomal dominant nonsyndromic hearing loss 17
Autosomal dominant nonsyndromic hearing loss 20
Autosomal dominant nonsyndromic hearing loss 22
Autosomal dominant nonsyndromic hearing loss 23
Autosomal dominant nonsyndromic hearing loss 25
Autosomal dominant nonsyndromic hearing loss 28
Autosomal dominant nonsyndromic hearing loss 2A
Autosomal dominant nonsyndromic hearing loss 2B
Autosomal dominant nonsyndromic hearing loss 36
Autosomal dominant nonsyndromic hearing loss 3A
Autosomal dominant nonsyndromic hearing loss 3B
Autosomal dominant nonsyndromic hearing loss 40
Autosomal dominant nonsyndromic hearing loss 41
Autosomal dominant nonsyndromic hearing loss 44
Autosomal dominant nonsyndromic hearing loss 4A
Autosomal dominant nonsyndromic hearing loss 4B
Autosomal dominant nonsyndromic hearing loss 5
Autosomal dominant nonsyndromic hearing loss 50
Autosomal dominant nonsyndromic hearing loss 56
Autosomal dominant nonsyndromic hearing loss 6
Autosomal dominant nonsyndromic hearing loss 64
Autosomal dominant nonsyndromic hearing loss 65
Autosomal dominant nonsyndromic hearing loss 66
Autosomal dominant nonsyndromic hearing loss 67
Autosomal dominant nonsyndromic hearing loss 68
Autosomal dominant nonsyndromic hearing loss 69
Autosomal dominant nonsyndromic hearing loss 70
Autosomal dominant nonsyndromic hearing loss 9
Autosomal dominant optic atrophy classic form
Autosomal recessive Alport syndrome
Autosomal recessive keratitis-ichthyosis-deafness syndrome
Autosomal recessive nonsyndromic hearing loss 101
Autosomal recessive nonsyndromic hearing loss 102
Autosomal recessive nonsyndromic hearing loss 103
Autosomal recessive nonsyndromic hearing loss 104
Autosomal recessive nonsyndromic hearing loss 12
Autosomal recessive nonsyndromic hearing loss 15
Autosomal recessive nonsyndromic hearing loss 16
Autosomal recessive nonsyndromic hearing loss 18A
Autosomal recessive nonsyndromic hearing loss 18B
Autosomal recessive nonsyndromic hearing loss 1A
Autosomal recessive nonsyndromic hearing loss 1B
Autosomal recessive nonsyndromic hearing loss 2
Autosomal recessive nonsyndromic hearing loss 21
Autosomal recessive nonsyndromic hearing loss 22
Autosomal recessive nonsyndromic hearing loss 23
Autosomal recessive nonsyndromic hearing loss 24
Autosomal recessive nonsyndromic hearing loss 25
Autosomal recessive nonsyndromic hearing loss 28
Autosomal recessive nonsyndromic hearing loss 29
Autosomal recessive nonsyndromic hearing loss 3
Autosomal recessive nonsyndromic hearing loss 30
Autosomal recessive nonsyndromic hearing loss 31
Autosomal recessive nonsyndromic hearing loss 32
Autosomal recessive nonsyndromic hearing loss 35
Autosomal recessive nonsyndromic hearing loss 36
Autosomal recessive nonsyndromic hearing loss 37
Autosomal recessive nonsyndromic hearing loss 39
Autosomal recessive nonsyndromic hearing loss 4
Autosomal recessive nonsyndromic hearing loss 42
Autosomal recessive nonsyndromic hearing loss 44
Autosomal recessive nonsyndromic hearing loss 48
Autosomal recessive nonsyndromic hearing loss 49
Autosomal recessive nonsyndromic hearing loss 53
Autosomal recessive nonsyndromic hearing loss 59
Autosomal recessive nonsyndromic hearing loss 6
Autosomal recessive nonsyndromic hearing loss 61
Autosomal recessive nonsyndromic hearing loss 63
Autosomal recessive nonsyndromic hearing loss 66
Autosomal recessive nonsyndromic hearing loss 67
Autosomal recessive nonsyndromic hearing loss 68
Autosomal recessive nonsyndromic hearing loss 7
Autosomal recessive nonsyndromic hearing loss 70
Autosomal recessive nonsyndromic hearing loss 74
Autosomal recessive nonsyndromic hearing loss 76
Autosomal recessive nonsyndromic hearing loss 77
Autosomal recessive nonsyndromic hearing loss 79
Autosomal recessive nonsyndromic hearing loss 8
Autosomal recessive nonsyndromic hearing loss 84A
Autosomal recessive nonsyndromic hearing loss 84B
Autosomal recessive nonsyndromic hearing loss 86
Autosomal recessive nonsyndromic hearing loss 88
Autosomal recessive nonsyndromic hearing loss 89
Autosomal recessive nonsyndromic hearing loss 9
Autosomal recessive nonsyndromic hearing loss 91
Autosomal recessive nonsyndromic hearing loss 93
Autosomal recessive nonsyndromic hearing loss 97
Autosomal recessive nonsyndromic hearing loss 98
Autosomal recessive optic atrophy, OPA7 type
Avascular necrosis of femoral head, primary, 1
Baraitser-Winter syndrome 1
Baraitser-winter syndrome 2
Bartter disease type 4A
Benign familial hematuria
Bifunctional peroxisomal enzyme deficiency
Bilateral microtia-deafness-cleft palate syndrome
Bone mineral density quantitative trait locus 18
Brachydactyly type B2
Branchiootic syndrome 1
Branchiootic syndrome 3
Branchiootorenal syndrome 1
Branchiootorenal syndrome 2
Brown-Vialetto-van Laere syndrome 1
Brown-Vialetto-van Laere syndrome 2
CHARGE association
Camptodactyly-tall stature-scoliosis-hearing loss syndrome
Carcinoma of cervix
Cataract 41
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
Charcot-Marie-Tooth disease X-linked recessive 4
Charcot-Marie-Tooth disease X-linked recessive 5
Charcot-Marie-Tooth disease recessive intermediate B
Cholestasis, progressive familial intrahepatic, 4
Chronic infantile neurological, cutaneous and articular syndrome
Chudley-McCullough syndrome
Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness
Colorectal carcinoma
Combined oxidative phosphorylation defect type 13
Combined oxidative phosphorylation defect type 24
Combined oxidative phosphorylation defect type 30
Combined oxidative phosphorylation deficiency 36
Cone-rod dystrophy and hearing loss
Cone-rod dystrophy and hearing loss 2
Congenital central hypoventilation
Conotruncal heart malformations
Corneal dystrophy, posterior polymorphous, 4
Craniofacial-deafness-hand syndrome
Crouzon syndrome-acanthosis nigricans syndrome
Czech dysplasia, metatarsal type
DOORS syndrome
Deafness dystonia syndrome
Deafness with labyrinthine aplasia, microtia, and microdontia
Deafness, X-linked 5
Deafness, autosomal dominant 39, with dentinogenesis imperfecta 1
Denticles
Dentinogenesis imperfecta type 2
Dentinogenesis imperfecta type 3
Developmental and epileptic encephalopathy, 16
Developmental delay with or without dysmorphic facies and autism
Developmental malformations-deafness-dystonia syndrome
DiGeorge syndrome
Dilated cardiomyopathy 1J
Duane retraction syndrome 3 with or without deafness
Dystonia 12
EAST syndrome
Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis
Ehlers-Danlos syndrome, arthrochalasis type
Epidermal nevus
Epiphyseal dysplasia, multiple, 2
Epiphyseal dysplasia, multiple, 6
Erythrokeratodermia variabilis et progressiva 1
Exudative vitreoretinopathy 2, X-linked
Familial amyloid nephropathy with urticaria AND deafness
Familial cold autoinflammatory syndrome 1
Familial infantile myoclonic epilepsy
Febrile seizures, familial, 4
Fibrochondrogenesis 1
Fibrochondrogenesis 2
Fibromatosis, gingival, 5
GRACILE syndrome
Glaucoma, normal tension, susceptibility to
Hearing loss, X-linked 1
Hearing loss, X-linked 4
Hearing loss, X-linked 6
Hearing loss, autosomal dominant 34, with or without inflammation
Hearing loss, autosomal dominant 71
Hearing loss, autosomal dominant 72
Hearing loss, autosomal dominant 73
Hearing loss, autosomal dominant 74
Hearing loss, autosomal dominant 84
Hearing loss, autosomal recessive 106
Hearing loss, autosomal recessive 107
Hearing loss, autosomal recessive 108
Hearing loss, autosomal recessive 110
Hearing loss, autosomal recessive 111
Hearing loss, autosomal recessive 112
Hearing loss, autosomal recessive 115
Hearing loss, autosomal recessive 117
Hearing loss, autosomal recessive 57
Heimler syndrome 1
Heimler syndrome 2
Hepatocellular carcinoma
Hereditary hearing loss and deafness
Hidrotic ectodermal dysplasia syndrome
High myopia-sensorineural deafness syndrome
Hirschsprung disease, susceptibility to, 2
Hirschsprung disease, susceptibility to, 4
Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome
Hypercholanemia, familial
Hyperpigmentation with or without hypopigmentation, familial progressive
Hypochondroplasia
Hypogonadotropic hypogonadism 5 with or without anosmia
Hypomyelinating leukodystrophy 11
Hypoparathyroidism, deafness, renal disease syndrome
Ichthyosis, hystrix-like, with hearing loss
Infantile cortical hyperostosis
Infantile onset spinocerebellar ataxia
Intervertebral disc disorder
Isolated neonatal sclerosing cholangitis
Jervell and Lange-Nielsen syndrome 1
Jervell and Lange-Nielsen syndrome 2
Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome
Keratitis fugax hereditaria
Kniest dysplasia
Knuckle pads, deafness AND leukonychia syndrome
Leber congenital amaurosis with early-onset deafness
Left ventricular noncompaction 1
Legg-Calve-Perthes disease
Leigh syndrome
Levy-Hollister syndrome
Lichtenstein-Knorr syndrome
Long QT syndrome 1
Long QT syndrome 5
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
Malignant tumor of testis
Malignant tumor of urinary bladder
Marshall syndrome
Melanoma, cutaneous malignant, susceptibility to, 8
Mitchell syndrome
Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)
Mitochondrial complex III deficiency nuclear type 1
Muenke syndrome
Multicentric carpo-tarsal osteolysis with or without nephropathy
Multiple epiphyseal dysplasia, Beighton type
Mutilating keratoderma
Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome
Namaqualand hip dysplasia
Nephronophthisis 19
Ocular albinism with congenital sensorineural hearing loss
Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy
Osteofibrous dysplasia
Osteogenesis imperfecta type I
Osteogenesis imperfecta type III
Osteogenesis imperfecta with normal sclerae, dominant form
Osteogenesis imperfecta, recessive perinatal lethal
Otofaciocervical syndrome 1
Otospondylomegaepiphyseal dysplasia, autosomal dominant
Otospondylomegaepiphyseal dysplasia, autosomal recessive
PCWH syndrome
PHARC syndrome
Palmoplantar keratoderma-deafness syndrome
Partial albinism
Pendred syndrome
Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome
Peroxisome biogenesis disorder 1B
Peroxisome biogenesis disorder 4A (Zellweger)
Peroxisome biogenesis disorder 4B
Peroxisome biogenesis disorder 7A (Zellweger)
Peroxisome biogenesis disorder 7B
Perrault syndrome 1
Perrault syndrome 2
Perrault syndrome 3
Perrault syndrome 4
Perrault syndrome 5
Perrault syndrome 6
Phosphoribosylpyrophosphate synthetase superactivity
Pili torti-deafness syndrome
Pituitary adenoma 5, multiple types
Platyspondylic dysplasia, Torrance type
Polyendocrine-polyneuropathy syndrome
Postmenopausal osteoporosis
Progressive bulbar palsy of childhood
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
Proximal symphalangism 1A
Pseudoxanthoma elasticum
Renal cell carcinoma
Renal hypodysplasia/aplasia 3
Renal tubular acidosis with progressive nerve deafness
Retinitis pigmentosa 39
Retinitis pigmentosa 61
Retinitis pigmentosa 77
Rheumatoid arthritis
SKIN/HAIR/EYE PIGMENTATION 7, DARK/LIGHT SKIN
Severe X-linked mitochondrial encephalomyopathy
Severe achondroplasia-developmental delay-acanthosis nigricans syndrome
Short QT syndrome type 2
Sinoatrial node dysfunction and deafness
Smith-Magenis syndrome
Spondylo-ocular syndrome
Spondyloepimetaphyseal dysplasia, Strudwick type
Spondyloepiphyseal dysplasia congenita
Spondyloepiphyseal dysplasia, Stanescu type
Spondyloperipheral dysplasia
Stapes ankylosis with broad thumbs and toes
Stickler syndrome type 1
Stickler syndrome type 2
Stickler syndrome, type 4
Stickler syndrome, type 5
Stickler syndrome, type I, nonsyndromic ocular
Symphalangism-brachydactyly syndrome
Tarsal-carpal coalition syndrome
Tetralogy of Fallot
Thanatophoric dysplasia type 1
Thanatophoric dysplasia, type 2
Tietz syndrome
Treacher Collins syndrome 1
Treacher Collins syndrome 2
Treacher Collins syndrome 3
Type 2 diabetes mellitus
Usher syndrome type 1
Usher syndrome type 1C
Usher syndrome type 1D
Usher syndrome type 1F
Usher syndrome type 1G
Usher syndrome type 1J
Usher syndrome type 2A
Usher syndrome type 2C
Usher syndrome type 2D
Usher syndrome type 3
Usher syndrome type 3B
Usher syndrome, type 4
Velocardiofacial syndrome
Waardenburg syndrome type 1
Waardenburg syndrome type 2A
Waardenburg syndrome type 2D
Waardenburg syndrome type 2E
Waardenburg syndrome type 3
Waardenburg syndrome type 4A
Waardenburg syndrome type 4B
Waardenburg syndrome type 4C
Wilms tumor 6
Wolfram syndrome 1
Wolfram syndrome 2
Wolfram-like syndrome
X-linked Alport syndrome
X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome
X-linked mixed hearing loss with perilymphatic gusher
Zellweger spectrum disorders
A2ML1 (12p13.31);
ABHD12 (20p11.21);
ACOX1 (17q25.1);
ACTB (7p22.1);
ACTG1 (17q25.3)
more...
Conditions
Help
Total conditions: 354
Condition/Phenotype
Identifier
Methodology
Total methods: 0
Method Category
Help
Test method
Help
Instrument *
* Instrument: Not provided
Technical Information
Recommended fields not provided:
Test Confirmation
IMPORTANT NOTE:
NIH does not independently verify information submitted to GTR; it relies on submitters to provide information that is accurate and not misleading.
NIH makes no endorsements of tests or laboratories listed in GTR. GTR is not a substitute for medical advice.
Patients and consumers
