POLR3A - RNA polymerase III subunit A Gene

HLD7

Leukoencephalopathy-Ataxia-Hypodontia-Hypomyelination Syndrome

Addh

Leukodystrophy, Hypomyelinating, With Hypodontia And Hypogonadotropic Hypogonadism

4h Syndrome

4h Leukodystrophy 1

Hypomyelinating Leukodystrophy 7 With Or Without Oligodontia And-Or Hypogonadotropic Hypogonadism

Hypomyelination-Cerebellar Atrophy-Hypoplasia Of The Corpus Callosum Syndrome

Leukodystrophy With Oligodontia

Tach Syndrome

Tremor-Ataxia-Central Hypomyelination Syndrome

Leukoencephalopathy, Hypomyelinating, With Ataxia And Delayed Dentition

Ataxia, Delayed Dentition, And Hypomyelination

Ataxia-Delayed Dentition-Hypomyelination Syndrome

Odontoleukodystrophy

Dentoleukoencephalopathy

Hypomyelinating Leukodystrophy-Ataxia-Hypodontia-Hypomyelination Syndrome

Ataxia-Delayed Dentition-Hypomyelination Syndrome

Ataxia Delayed Dentition And Hypomyelination

Leukodystrophy Hypomyelinating With Hypodontia And Hypogonadotropic Hypogonadism 4h Syndrome

Leukoencephalopathy Hypomyelinating With Ataxia And Delayed Dentition

Tach

Tremor-Ataxia With Central Hypomyelination

Attention Deficit Hyperactivity Disorder

Leukodystrophy, Dysmyelinating, With Oligodontia

Neonatal Progeroid Syndrome

Neonatal Pseudo-Hydrocephalic Progeroid Syndrome

WDRTS

Progeroid Syndrome, Neonatal

Progeroid Syndrome Neonatal

Wiedemann Rautenstrauch Syndrome

Congenital Pseudohydrocephalic Progeroid Syndrome

Neonatal Pseudohydrocephalic Progeroid Syndrome

Pol Iii-Related Leukodystrophy

4h Syndrome

4h Leukodystrophy

Hypomyelination-Hypogonadotropic Hypogonadism-Hypodontia Syndrome

Pol Iii Disorder

Pol Iii-Related Hypomyelinating Leukodystrophies

Ribonucleic Acid Polymerase Iii-Related Leukodystrophy

Dentoleukoencephalopathy

Leukodystrophy With Oligodontia

Odontoleukodystrophy

Hypomyelinating Leukodystrophy With Or Without Oligondontia And/Or Hypogonadism

Addh

Ataxia, Delayed Dentition, And Hypomyelination

Hcahc

Hld7

Hld8

Hypomyelination With Cerebellar Atrophy And Hypoplasia Of The Corpus Callosum

Hypomyelination, Hypodontia, Hypogonadotropic Hypogonadism

Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism

Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism

Leukoencephalopathy-Ataxia-Hypodontia-Hypomyelination

Lo

Tach

Tremor-Ataxia With Central Hypomyelination

Polr-Related Leukodystrophy

Mitochondrial Hsp60 Chaperonopathy

Hypomyelinating Leukodystrophy 4

HLD4

Mitchap60 Disease

Pelizaeus-Merzbacher-Like Disease Due To Hspd1 Mutation

Mitchap-60 Disease

Leukodystrophy, Hypomyelinating, Type 4

Hypomyelinating Leukodystrophy 11

HLD11

4h Leukodystrophy 3

Leukodystrophy, Hypomyelinating, Type 11

Klinefelter Syndrome

Klinefelter'S Syndrome

Xxy Syndrome

Xxy Trisomy

Hypogonadotropism

47, Xxy

Congenital Idiopathic Hypogonadotropic Hypogonadism

Isolated Congenital Gonadotropin Deficiency

47,Xxy Syndrome

47, Xxy Syndrome

Klinefelters Syndrome

Hypogonadism

Klinefelter Syndrome In Males

Klinefelter Syndrome, Unspecified

Klinefelter Syndrome Karyotype 47, Xxy

Leukodystrophies

Hypomyelinating Leukodystrophy 3

HLD3

Pelizaeus-Merzbacher-Like Disease Due To Aimp1 Mutation

Leukodystrophy, Hypomyelinating 3

Perinatal Sudanophilic Leukodystrophy

Leukodystrophy, Hypomyelinating, Type 3

Pelizaeus-Merzbacher-Like Disease, Autosomal Recessive, 2

Hypomyelinating Leukodystrophy 9

HLD9

Rars-Related Autosomal Recessive Hypomyelinating Leukodystrophy

Leukodystrophy, Hypomyelinating, Type 9

Cerebellar-Facial-Dental Syndrome

CFDS

Habc

Hypomyelinating Leukodystrophy 6

HLD6

H-Abc

Hypomyelination With Atrophy Of Basal Ganglia And Cerebellum

Leukodystrophy, Hypomyelinating, With Atrophy Of The Basal Ganglia And Cerebellum

Hypomyelinating Leukodystrophy With Atrophy Of The Basal Ganglia And Cerebellum

HLD

Leukodystrophy, Hypomyelinating, Type 6

SPG25

Hereditary Spastic Paraplegia 25

Autosomal Recessive Spastic Paraplegia Type 25

Spastic Paraplegia 25

Disc Herniation With Spastic Paraplegia, Autosomal Recessive

Autosomal Recessive Spastic Paraplegia 25

Spinal Disc Herniation With Autosomal Recessive Spastic Paraplegia

Autosomal Recessive Spastic Paraplegia-Disc Herniation Syndrome

Cerebellar Ataxia And Hypogonadotropic Hypogonadism

Lhrh Deficiency And Ataxia

Cerebellar Ataxia-Hypogonadism Syndrome

GDHS

Cahh

Luteinizing Hormone-Releasing Hormone Deficiency With Ataxia

Gordon-Holmes Syndrome

Deficiency Of Luteinizing Hormone-Releasing Hormone With Ataxia

Luteinizing Hormone-Releasing Hormone, Deficiency Of, With Ataxia

Cerebellar Ataxia - Hypogonadism

Luteinizing Hormone Releasing Hormone, Deficiency Of With Ataxia

Ataxia, Cerebellar, And Hypogonadotropic Hypogonadism

Hypomyelinating Leukodystrophy 10

HLD10

Pycr2-Related Microcephaly-Progressive Leukoencephalopathy

Leukodystrophy, Hypomyelinating, Type 10

COFS2

Cerebro-Oculo-Facio-Skeletal Syndrome 2

Cofs Syndrome

Brain Degeneration

Degenerative Brain Disorder

Hypomyelination And Congenital Cataract

HLD5

Hypomyelination-Congenital Cataract Syndrome

Hypomyelinating Leukodystrophy 5

Hcc

Hypomyelination And Congenital Cataract: Hcc

Hypomyelination - Congenital Cataract

Hypomyelination With Congenital Cataract

Ataxia-Hypogonadism-Choroidal Dystrophy Syndrome

BNHS

Spinocerebellar Ataxia, Hypogonadotropic Hypogonadism, And Chorioretinal Dystrophy

Boucher-Neuhäuser Syndrome

Chorioretinal Dystrophy, Spinocerebellar Ataxia, And Hypogonadotropic Hypogonadism

Ataxia - Hypogonadism - Choroidal Dystrophy

Chorioretinal Dystrophy, Spinocerebellar Ataxia And Hypogonadotropic Hypogonadism

Bns

Cerebellar Ataxia With Hypogonadism And Choroidal Dystrophy Syndrome

Boucher Neuhauser Syndrome

Hld

Leukodystrophy, Hypomyelinating

Oligodontia

Hypodontia

Selective Tooth Agenesis

Tooth Agenesis, Selective

Familial Tooth Agenesis

Anodontia

Congenital Absence Of One Tooth

Diffuse Systemic Sclerosis

Systemic Sclerosis, Diffuse

Scleroderma, Diffuse

Systemic Scleroderma

Progressive System Sclerosis

PMD

HLD1

Pelizaeus-Merzbacher Brain Sclerosis

Leukodystrophy, Hypomyelinating, 1

Diffuse Familial Brain Sclerosis

Pelizaeus Merzbacher Brain Sclerosis

Sudanophilic Leukodystrophy, Paelizeus-Merzbacher Type

Cockayne-Pelizaeus-Merzbacher Disease

Hypomyelinating Leukodystrophy 1

Leukodystrophy, Sudanophilic

Pelizaeus Merzbacher Disease

Hypomyelinating Leukodystrophy, 1

Sudanophilic Leukodystrophy

Pelizaeus-Merzbacher Disease, Connatal Form

Connatal Pmd

Pelizaeus-Merzbacher Disease Type Ii

Severe Pmd

Null Syndrome

Plp1 Null Syndrome

Pelizaeus-Merzbacher Disease, Null Syndrome

Brain Sclerosis Diffuse Familial

Sudanophilic Leukodystrophy Paelizeus-Merzbacher Type

Leukodystrophy Hypomyelinating 1

Diffuse Cerebral Sclerosis Of Schilder

Defective Lid Closure

Poor Closure Eyelids

Spax

Ataxia, Spastic

Cree Leukoencephalopathy

Vanishing White Matter Disease

Ovarioleukodystrophy

Vanishing White Matter Leukodystrophy

Childhood Ataxia With Central Nervous System Hypomyelinization

Cach

Cach Syndrome

Myelinosis Centralis Diffusa

VWM

Cle

Childhood Ataxia With Central Nervous System Hypomyelination

Childhood Ataxia With Diffuse Central Nervous System Hypomyelination

Cach/Vwm

Cach/Vwm Syndrome

Childhood Ataxia With Central Nervous System Hypomyelination/Vanishing White Matter

Cree Leukoencehalopathy

Late Infantile Cach Syndrome

Juvenile Or Adult Cach Syndrome

Congenital Or Early Infantile Cach Syndrome

Leukodystrophy With Vanishing White Matter

Myoclonic Dystonia

Myoclonus-Dystonia Syndrome

DYT11

Myoclonic Dystonia 11

Alcohol-Responsive Dystonia

Myoclonus, Hereditary Essential

Dystonia-11, Myoclonic

Myoclonus-Dystonia

Dystonia 11

Hereditary Essential Myoclonus

Dystonia, Alcohol-Responsive

Dyt-Sgce

Dystonia, Alcohol Responsive

Dystonia-11

Dystonia, Myoclonic

Dystonia, Myoclonic, Type 11

Familial Spastic Paraplegia

Hereditary Spastic Paraparesis

Strumpell-Lorrain Disease

Familial Spastic Paraparesis

Hsp

Spg

Strümpell-Lorrain Disease

Spastic Paraplegia, Hereditary

French Settlement Disease

Strumpell-Lorrain Syndrome

Fsp

Spastic Paraplegia, Familial

Spastic Paraplegia Hereditary

Spastic Paraplegia 3, Autosomal Dominant

Spastic Paraparesis

Hereditary Spastic Paralysis

Familial Spastic Paralysis

Hereditary Spastic Ataxia