MT-TS1 - mitochondrially encoded tRNA serine 1 (UCN) Gene

Mitochondrial Non-Syndromic Sensorineural Hearing Loss

Mitochondrial Nonsyndromic Sensorineural Deafness

Mitochondrial Non-Syndromic Sensorineural Deafness

Isolated Mitochondrial Neurosensory Deafness

Isolated Mitochondrial Neurosensory Hearing Loss

Isolated Mitochondrial Sensorineural Deafness

Isolated Mitochondrial Sensorineural Hearing Loss

Mitochondrial Non-Syndromic Neurosensory Deafness

Mitochondrial Non-Syndromic Neurosensory Hearing Loss

Deafness, Sensorineural, Mitochondrial

DFNM

Palmoplantar Keratoderma-Deafness Syndrome

Palmoplantar Keratoderma With Deafness

Palmoplantar Hyperkeratosis-Deafness Syndrome

Palmoplantar Hyperkeratosis-Hearing Loss Syndrome

Palmoplantar Keratoderma-Hearing Loss Syndrome

Ppk-Deafness Syndrome

Keratoderma Palmoplantar Deafness

Diffuse Palmoplantar Keratoderma With Deafness

Focal Palmoplantar Keratoderma With Sensorineural Deafness

Hereditary Palmoplantar Keratoderma With Deafness

Keratoderma Palmoplantar, With Deafness

Palmoplantar Keratoderma And Sensorineural Deafness

Ppk With Deafness

PPKDFN

Keratoderma Palmoplantar, Deafness

Melas Syndrome

MELAS

Mitochondrial Encephalomyopathy Lactic Acidosis And Stroke-Like Episodes

Mitochondrial Myopathy, Lactic Acidosis, Stroke-Like Episode

Mitochondrial Encephalomyopathy, Lactic Acidosis, And Stroke-Like Episodes

Myopathy, Mitochondrial-Encephalopathy-Lactic Acidosis-Stroke

Mitochondrial Encephalomyopathy, Lactic Acidosis And Stroke-Like Episodes

Mitochondrial Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes

Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis And Stroke-Like Episodes

Mitochondrial Encephalomyopathy With Lactic Acidosis And Stroke-Like Episodes Syndrome

Myopathy, Mitochondrial, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes

Maternally-Inherited Cpeo

Maternally-Inherited Chronic Progressive External Ophthalmoplegia

Mtdna-Related Progressive External Ophthalmoplegia

Merrf Syndrome

MERRF

Fukuhara Syndrome

Myoclonic Epilepsy Associated With Ragged Red Fibers

Myoencephalopathy Ragged-Red Fiber Disease

Myoclonic Epilepsy - Ragged Red Fibers

Myoclonus Epilepsy And Ragged Red Fibers

Myoclonus With Epilepsy And With Ragged Red Fibers

Myoclonic Epilepsy With Ragged Red Fibers

Myoclonic Epilepsy With Ragged-Red Fibers

Fukuhara Disease

Myoclonus Epilepsy Associated With Ragged-Red Fibres

Myoclonus With Epilepsy With Ragged Red Fibers

Leber Optic Atrophy

Leber Hereditary Optic Neuropathy

LHON

Leber'S Hereditary Optic Neuropathy

Leber Optic Atrophy, Susceptibility To

Leber'S Optic Atrophy

LOAM

Loas

Leber'S Disease

Leber'S Optic Neuropathy

Optic Atrophy, Hereditary, Leber

Lhon, Modifier Of

Optic Atrophy, Leber Type

Hereditary Optic Neuroretinopathy

Leber Hereditary Optic Atrophy

Loa

Optic Atrophy Leber Type

Leber Hereditary Optic Neuropathy, Modifier

Leber Hereditary Optic Neuropathy Susceptibility

Modifier Of Leber Hereditary Optic Neuropathy

Lebers Hereditary Optic Neuropathy

Leber Congenital Amaurosis

Cytochrome C Oxidase Deficiency

Mitochondrial Complex Iv Deficiency

Cox Deficiency

Cytochrome-C Oxidase Deficiency Disease

MC1DN4

Cytochrome-C Oxidase Deficiency

MC4DN1

Mitochondrial Complex I Deficiency, Nuclear Type 4

Complex 4 Mitochondrial Respiratory Chain Deficiency

Complex Iv Deficiency

Mitochondrial Complex 1 Deficiency, Nuclear Type 4

Nuclear Type Mitochondrial Complex I Deficiency 4

Deficiency Of Mitochondrial Respiratory Chain Complex4

MT-C4D

Complex Iv Mitochondrial Respiratory Chain Deficiency

Lethal Neonatal Cardiomyopathy Hypertrophic Due To Cytochrome C Oxidase Deficiency

Mitochondrial Complex Iv Deficiency, Nuclear, Type 1

Rare Genetic Hearing Loss

Streptomycin Ototoxicity

Deafness, Mitochondrial, Modifier Of

Aminoglycoside-Induced Deafness

Deafness, Streptomycin-Induced

Streptomycin-Induced Deafness

DFNI

Leber Congenital Amaurosis

Lca

Leber'S Amaurosis

Leber'S Disease

Amaurosis Congenita Of Leber

Amaurosis Congenita Of Leber, Type 1

Lhon Plus Disease

Congenital Absence Of The Rods And Cones

Congenital Retinal Blindness

Crb

Congenital Amaurosis Of Retinal Origin

Leber'S Congenital Amaurosis

Leber Congenital Amaurosis 1

Leber'S Congenital Tapetoretinal Degeneration

Leber'S Congenital Tapetoretinal Dysplasia

Lca1

Leber Congenital Amaurosis Type 1

Retinal Blindness, Congenital

Amaurosis, Leber Congenital

Dysgenesis Neuroepithelialis Retinae

Hereditary Epithelial Dysplasia Of Retina

Hereditary Retinal Aplasia

Heredoretinopathia Congenitalis

Leber Abiotrophy

Leber Congenital Tapetoretinal Degeneration

Lebers Congenital Amaurosis

Optic Atrophy, Hereditary, Leber

Drug Induced Hearing Loss

Chromosome 9q21.11 Duplication Syndrome

DFNA51

Autosomal Dominant Nonsyndromic Deafness 51

Autosomal Dominant Deafness 51

Deafness, Autosomal Dominant, Type 51

Disease Due To Dicrocoeliidae

Lancet Fluke Infection

Dicroceliosis

Lancet Fluke Disease

Lancet Fluke Infestation

Enlarged Vestibular Aqueduct

DFNB4

Neurosensory Nonsyndromic Recessive Deafness 4

Enlarged Vestibular Aqueduct Syndrome

Nsrd4

Autosomal Recessive Nonsyndromic Deafness 4

Dilated Vestibular Aqueduct

Dva

Enlarged Vestibular Aqueduct, Digenic

Autosomal Recessive Deafness 4 With Enlarged Vestibular Aqueduct

Large Vestibular Aqueduct Syndrome

Deafness, Autosomal Recessive, 4

Deafness Neurosensory Autosomal Recessive 4

Eva

Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 4

Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 4

Deafness, Autosomal Recessive, Type 4 , With Enlarged Vestibular Aqueduct

Mutilating Keratoderma

Keratoderma Hereditarium Mutilans

Khm

VOWNKL

Deafness, Congenital, With Keratopachydermia And Constrictions Of Fingers And Toes

Mutilating Keratoderma Of Vohwinkel

Mutilating Keratoderma Plus Deafness

Ppk Mutilans And Deafness

Congenital Deafness With Keratopachydermia And Constrictions Of Fingers And Toes

Congenital Deafness With Keratopachydermia And Constrictions Fo Fingers And Toes

Palmoplantar Keratoderma Mutilans

Palmoplantar Keratoderma Mutilans Vohwinkel

Ppk Mutilans Vohwinkel

Mutilating Keratoderma Plus Hearing Loss

Ppk Mutilans And Hearing Loss

Progressive Myoclonic Epilepsy Type 6

Epm6

Gosr2-Related Progressive Myoclonus Ataxia

North Sea Progressive Myoclonus Epilepsy

Pme Type 6

Progressive Myoclonus Epilepsy Type 6

Epilepsy, Progressive Myoclonic, 6

DFNA50

Autosomal Dominant Nonsyndromic Deafness 50

Autosomal Dominant Deafness 50

Deafness, Autosomal Dominant, Type 50

X-Linked Deafness

Deafness, X-Linked

Noonan Syndrome

NS1

Male Turner Syndrome

Female Pseudo-Turner Syndrome

Turner Phenotype With Normal Karyotype

Noonan Syndrome With Pigmented Villonodular Synovitis

Turner'S Phenotype, Karyotype Normal

Familial Turner Syndrome

Noonan'S Syndrome

Noonan-Ehmke Syndrome

Ns

Pseudo-Ullrich-Turner Syndrome

Turner Syndrome In Female With X Chromosome

Turner-Like Syndrome

Ullrich-Noonan Syndrome

Noonan-Like/Multiple Giant Cell Lesion Syndrome

Noonan Syndrome-Like Disorder With Multiple Giant Cell Lesions

Pterygium Colli Syndrome

Noonan Syndrome, Type 1

Turner Syndrome, Male

Mitochondrial Encephalomyopathies

Encephalomyopathy, Mitochondrial

Goiter-Deafness Syndrome

Deafness With Goiter

PDS

Thyroid Dyshormonogenesis 2b

Tdh2b

Autosomal Recessive Sensorineural Hearing Impairment And Goiter

Pendred'S Syndrome

Thyroid Hormonogenesis, Genetic Defect In, 2b

Hypothyroidism, Congenital, Due To Dyshormonogenesis, 2b

Congenital Hypothyroidism Due To Dyshormonogenesis 2b

Genetic Defect In Thyroid Hormonogenesis 2b

Autosomal Recessive Sensorineural Hearing Impairment, Enlarged Vestibular Aqueduct, And Goiter

Goiter-Hearing Loss Syndrome

Goitre-Deafness Syndrome

Goitre Deafness

Mitochondrial Myopathies

Mitochondrial Cytopathy

Myopathies In Mitochondrial Disorders

Myoclonic Epilepsy

Myoclonic Seizure

Epilepsies, Myoclonic

Epileptic Seizures - Myoclonic

Epileptic Seizures, Myoclonic

Myoclonia Epileptica

Myoclonic Seizure Disorder

Early Myoclonic Encephalopathy With Suppression-Bursts

Optic Atrophy

3-Methylglutaconic Aciduria Type 3

Costeff Syndrome

Mga3

Costeff Optic Atrophy Syndrome

Optic Atrophy Plus Syndrome

Infantile Optic Atrophy With Chorea And Spastic Paraplegia

3-Methylglutaconic Aciduria Type Iii

Autosomal Recessive Optic Atrophy Plus Syndrome

Autosomal Recessive Optic Atrophy Type 3

Opa3 Defect

MGCA3

Mga, Type Iii

Iraqi Jewish Optic Atrophy Plus

Mga Type Iii

Optic Atrophy, Infantile, With Chorea And Spastic Paraplegia

Iraqi-Jewish 'Optic Atrophy Plus'

Optic Atrophy 3, Autosomal Recessive

Opa3, Autosomal Recessive

Opa3-Related 3-Methylglutaconic Aciduria

Iraqi-Jewish Optic Atrophy Plus

Atrophy Of Optic Disc

3-Alpha Methylglutaconic Aciduria Type Iii

Optic Atrophy 3

Optic Atrophy Infantile With Chorea And Spastic Paraplegia

Autosomal Recessive Opa3

Autosomal Recessive Optic Atrophy 3

3-Methylglutaconic Aciduria 3

3-Alpha-Methylglutaconic Aciduria Type 3

Optic Atrophy 3 Autosomal Recessive

Atrophy, Optic

Atrophy, Optic, Plus Syndrome

Optic Nerve Atrophy

Primary Optic Atrophy

Oa - [Optic Atrophy]

Second Cranial Nerve Atrophy

Second Cranium Nerve Atrophy

Autosomal Dominant Deafness