PMPCA - peptidase, mitochondrial processing subunit alpha Gene

SCAR2

Cpd3

Autosomal Recessive Spinocerebellar Ataxia 2

Cerebellar Hypoplasia, Nonprogressive Norman Type

Cerebelloparenchymal Disorder Iii

Cpd Iii

Autosomal Recessive Cerebelloparenchymal Disorder Type 3

Cerebellar Granular Cell Hypoplasia And Mental Retardation, Congenital

Cerebelloparenchymal Disorder 3

Cpdiii

Cerebellar Granular Cell Hypoplasia And Intellectual Disability, Congenital

Autosomal Recessive Spinocerebellar Ataxia Type 2

Spinocerebellar Ataxia, Autosomal Recessive, 2

Cerebellar Hypoplasia, Non-Progressive Norman Type

Low Pressure Hydrocephalus

Hydrocephalus Normal Pressure

Hydrocephalus, Normal Pressure

Normal Pressure Hydrocephalus Nos

Nph - [Normal Pressure Hydrocephalus]

Normal Pressure Hydrocephaly

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

Hypertrophic Obstructive Cardiomyopathy

Cardiomyopathy, Hypertrophic

Cardiomyopathy Hypertrophic Obstructive

Cardiomyopathy, Hypertrophic, Familial

Idiopathic Myocardial Hypertrophy

Idiopathic Hypertrophic Cardiomyopathy

Obstructive Idiopathic Hypertrophic Cardiomyopathy

Obstructive Cardiomyopathy

Idiopathic Hypertrophic Subaortic Stenosis

Muscular Subaortic Stenosis

Hypertrophic Obstructive Subaortic Stenosis

NPHPL1

Nephronophthisis-Like Nephropathy, Type 1

Rickettsia Africae Spotted Fever

South African Tick-Bite Fever

African Tick Bite Fever

Congenital Myasthenic Syndrome 11

CMS11

Cms Ie

Cms1e

Myasthenic Syndrome, Congenital, Ie

Myasthenic Syndrome, Congenital, Ie, Formerly

Cms1e, Formerly

Cms Ie, Formerly

Congenital Myasthenic Syndrome 11 Associated With Acetylcholine Receptor Deficiency

Congenital Myasthenic Syndrome 1e

Myasthenic Syndrome, Congenital, Type 11, Associated With Acetylcholine Receptor Deficiency

Israeli Spotted Fever

BRGDA5

Cardiac Conduction Defect, Nonspecific

Brugada Syndrome, Type 5

SCAR23

Autosomal Recessive Spinocerebellar Ataxia 23

Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Tud Deficiency

Autosomal Recessive Cerebellar Ataxia - Epilepsy - Intellectual Disability Syndrome Due To Tud Deficiency

Spinocerebellar Ataxia Autosomal Recessive Type 23

Spinocerebellar Ataxia, Autosomal Recessive, 23

Ataxia, Spinocerebellar, Autosomal Recessive, Type 23

CECBA

Cerebellar Ataxia, Nonprogressive, With Mental Retardation

Canpmr

Nonprogressive Cerebellar Ataxia With Mental Retardation

Non-Progressive Cerebellar Ataxia With Intellectual Disability

Ataxia, Cerebellar, Nonprogressive, With Mental Retardation

SMDMDM

Autosomal Recessive Spondylometaphyseal Dysplasia, Megarbane Type

Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melike Type

Spondylometaphyseal Dysplasia Megarbane-Dagher-Melike Type

Chondrodysplasia, Megarbane-Dagher-Melki Type

Megarbane-Dagher-Melike Type Chondrodysplasia

Chondrodysplasia, Megarbane-Dagher-Melike Type

Dysplasia, Spondylometaphyseal, Megarbane-Dagher-Melike Type

Lethal Left Ventricular Non-Compaction-Seizures-Hypotonia-Cataract-Developmental Delay Syndrome

COXPD31

Joubert Syndrome

Jbts

Cerebellooculorenal Syndrome 1

JBTS1

Joubert-Boltshauser Syndrome

Cerebelloparenchymal Disorder Iv

Cpd4

Cors1

Joubert Syndrome And Related Disorders

Jsrd

Familial Aplasia Of The Vermis

Joubert Syndrome Related Disorders

Js

Cerebellar Vermis Agenesis

Cerebelloparenchymal Disorder 4

Agenesis Of Cerebellar Vermis

Cerebello-Oculo-Renal Syndrome

Cors

Joubert-Bolthauser Syndrome

Cpd Iv

Classic Joubert Syndrome

Joubert Syndrome Type A

Pure Joubert Syndrome

Cerebello-Oculo-Renal Syndrome 1

Joubert Syndrome-1

Joubert Syndrome, Type 1

Joubert'S Syndrome

Spotted Fevers

Spotted Fever Group Rickettsial Disease

Tick-Borne Rickettsioses

Tick-Borne Typhus Nos

Rocky Mountain Spotted Fever

Sao Paulo Fever

Sao Paulo Typhus

Lone Star Spotted Fever

Colombian Spotted Fever

American Spotted Fever

Tick Typhus Due To Rickettsia Rickettsii

Rocky Mountain Tick Fever

Boutonneuse Fever

Mediterranean Tick Fever

Fièvre Boutonneuse

Mediterranean Spotted Fever

Tick Typhus Due To Rickettsia Conorii

African Tick Typhus

Indian Tick Typhus

Kenya Tick Typhus

North Asian Tick Fever

Siberian Tick Typhus

Tick Typhus Due To Rickettsia Siberica

North Asian Spotted Fever

Queensland Tick Typhus

Queensland Fever