| Diseases |
Alias |
|
| Lissencephaly 3 |
|
LIS3
|
Lissencephaly Due To Tuba1a Mutation
|
|
Lissencephaly Type 3
|
Lissencephaly, Type 3
|
|
|
| Tubulinopathy-Associated Dysgyria |
|
Brain Stem Asymmetry-Superior Cerebellar And Basal Ganglia Dysplasia Syndrome
|
|
|
| Lissencephaly |
|
Pachygyria
|
Broad Gyri Of Cerebrum
|
|
Large Gyri Of Cerebrum
|
Macrogyria
|
|
|
| Tubulinopathy |
|
|
| Congenital Fibrosis Of The Extraocular Muscles |
|
Congenital Fibrosis Of Extraocular Muscles
|
Cfeom
|
|
Feom
|
Congenital External Ophthalmoplegia
|
|
Congenital Fibrosis Syndrome
|
General Fibrosis Syndrome
|
|
|
| Polymicrogyria, Bilateral Perisylvian, X-Linked |
|
Bilateral Perisylvian Polymicrogyria
|
Polymicrogyria, Bilateral Perisylvian
|
|
Pmgx
|
Perisylvian Syndrome, Congenital Bilateral
|
|
Cbps
|
Congenital Bilateral Perisylvian Syndrome
|
|
Perisylvian Syndrome
|
BPPX
|
|
Bpp
|
|
|
| Continuous Spike-Wave During Slow Sleep Syndrome |
|
Csws
|
Cswss Syndrome
|
|
Continuous Spikes And Waves During Sleep
|
Continuous Spikes And Waves During Slow-Wave Sleep
|
|
Epileptic Encephalopathy With Continuous Spike-And-Wave During Slow Sleep
|
Continuous Spike And Waves During Slow Sleep
|
|
Continuous Spike And Waves During Slow-Wave Sleep Syndrome
|
|
|
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
|
Lgmd2d
|
Muscular Dystrophy, Limb-Girdle, Type 2d
|
|
Dmda2
|
LGMDR3
|
|
Duchenne-Like Autosomal Recessive Muscular Dystrophy, Type 2
|
Adhalinopathy, Primary
|
|
Alpha-Sarcoglycanopathy
|
Severe Childhood Autosomal Recessive Muscular Dystrophy
|
|
Limb-Girdle Muscular Dystrophy, Type 2d
|
Muscular Dystrophy Limb-Girdle With Alpha-Sarcoglycan
|
|
Alpha-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R3
|
Alpha-Sarcoglycan-Related Lgmd R3
|
|
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2d
|
Lgmd Due To Alpha-Sarcoglycan Deficiency
|
|
Lgmd Type 2d
|
Limb-Girdle Muscular Dystrophy Due To Alpha-Sarcoglycan Deficiency
|
|
Limb-Girdle Muscular Dystrophy Type 2d
|
Adhalinopathy Primary
|
|
Duchenne-Like Muscular Dystrophy Autosomal Recessive Type 2
|
Limb-Girdle Muscular Dystrophy 2d
|
|
Scarmd
|
Dystrophy, Muscular, Limb-Girdle, Type 2d
|
|
Alpha-Sarcoglycanopathies
|
Severe Autosomal Recessive Muscular Dystrophy Of Childhood - North African Type
|
|
|
| Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2d |
|
Alpha-Sarcoglycanopathy
|
Dmda2
|
|
Duchenne-Like Autosomal Recessive Muscular Dystrophy Type 2
|
Lgmd2d
|
|
Muscular Dystrophy, Limb-Girdle, Type 2d
|
Primary Adhalinopathy
|
|
|
| Corpus Callosum, Agenesis Of |
|
Corpus Callosum Agenesis
|
Agenesis Of The Corpus Callosum
|
|
Isolated Corpus Callosum Agenesis
|
Acc
|
|
Non Rare In Europe: Isolated Corpus Callosum Agenesis
|
Congenital Malformation Of Corpus Callosum
|
|
Deformity Of Corpus Callosum
|
Absence Of Corpus Callosum
|
|
Absent Corpus Callosum
|
Acc - [Agenesis Of Corpus Callosum]
|
|
Aplasia Of Corpus Callosum
|
Congenital Absence Of Corpus Callosum
|
|
Hypoplastic Corpus Callosum
|
Hypoplasia Of Corpus Callosum
|
|
|
| Intellectual Disability - Hypoplastic Corpus Callosum - Preauricular Tag |
|
Da Silva Syndrome
|
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
|
|
|
| Early Myoclonic Encephalopathy |
|
Myoclonic Epilepsy
|
Myoclonic Seizure
|
|
Epilepsies, Myoclonic
|
Epileptic Seizures - Myoclonic
|
|
Epileptic Seizures, Myoclonic
|
Myoclonia Epileptica
|
|
Myoclonic Seizure Disorder
|
Early Myoclonic Encephalopathy With Suppression-Bursts
|
|
|
| Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development |
|
Continuous Spike And Waves During Slow-Wave Sleep Syndrome
|
FESD
|
|
Epilepsy, Focal, With Speech Disorder And With Or Without Mental Retardation
|
Aphasia, Acquired, With Epilepsy
|
|
Landau-Kleffner Syndrome
|
Acquired Aphasia With Epilepsy
|
|
Adresd
|
Bects
|
|
Benign Epilepsy Of Childhood With Centrotemporal Spikes
|
Csws
|
|
Cswss
|
Lks
|
|
Resdad
|
Epilepsy, Focal, With Speech Disorder With/Without Mental Retardation
|
|
Rolandic Epilepsy, Mental Retardation, And Speech Dyspraxia, Autosomal Dominant
|
Benign Rolandic Epilepsy
|
|
Aphasia
|
|
|
| Cerebral Palsy |
|
Infantile Cerebral Palsy
|
Mixed Cerebral Palsy
|
|
Palsy Cerebral
|
Palsy, Cerebral
|
|
Cerebral Palsy, Mixed
|
|
|
| Neuronal Migration Disorders |
|
Abnormality Of Neuronal Migration
|
Malformations Of Cortical Development, Group Ii
|
|
Neuronal Dysmigration Syndromes
|
|
|
| Cryptorchidism, Unilateral Or Bilateral |
|
Cryptorchidism
|
Undescended Testicle
|
|
Undescended Testis
|
Cryptorchism
|
|
Undescended Testicles
|
CRYPTO
|
|
Impaired Testicular Descent
|
Cryptosporidiosis
|
|
Retained Testis
|
Unilateral Cryptorchidism
|
|
Unilateral Undescended Testis
|
Nondescent Unilateral Testicle
|
|
Unilateral Cryptorchism
|
Ectopic Testis, Unilateral
|
|
Bilateral Cryptorchidism
|
Bilateral Cryptorchism
|
|
Bilateral Nondescent Testicle
|
Bilateral Undescended Testes
|
|
Bilateral Ectopic Testes
|
|
|
| West Syndrome |
|
Infantile Spasms
|
Infantile Spasms Syndrome
|
|
Infantile Spasm
|
X-Linked Infantile Spasm Syndrome
|
|
X-Linked Infantile Spasms
|
Epileptic Encephalopathy, Early Infantile, 1
|
|
Is
|
Tonic Spasms With Clustering, Arrest Of Psychomotor Development And Hypsarrhythmia On Eeg
|
|
West'S Syndrome
|
Spasms, Infantile
|
|
Is -[Infantile Spasm]
|
Salaam Spasm
|
|
Salaam Tic
|
|
|
| Dandy-Walker Syndrome |
|
Dandy-Walker Malformation
|
DWS
|
|
Atresia Of Foramina Of Magendie And Luschka
|
Dandy-Walker Complex
|
|
Dandy-Walker Cyst
|
Dandy-Walker Deformity
|
|
Dandy Walker Cyst
|
Dw Complex
|
|
Dandy-Walker Syndrome Or Malformation
|
Dandy-Walker Variant
|
|
Mega Cisterna Magna
|
Dwm
|
|
Hydrocephalus, Internal, Dandy-Walker Type
|
Hydrocephalus, Noncommunicating, Dandy-Walker Type
|
|
Luschka-Magendie Foramina Atresia
|
Isolated Dandy-Walker Malformation
|
|
Mega-Cisterna Magna
|
Dandy Walker Variant
|
|
Atresia Of Foramen Of Luschka
|
Atresia Of Foramen Of Magendie
|
|
Congenital Blockage Of Foramen Magendie
|
|
|
| Hydranencephaly |
|
|
| Congenital Nervous System Abnormality |
|
Congenital Neurologic Anomaly
|
Congenital Nervous System Disorder
|
|
|
| Nervous System Disease |
|
Abnormality Of The Nervous System
|
Nervous System Diseases
|
|
Nervous System Disorder
|
|
|
| Microlissencephaly |
|
|
| Polymicrogyria |
|
|
| Miller-Dieker Lissencephaly Syndrome |
|
Miller-Dieker Syndrome
|
Mds
|
|
MDLS
|
Miller Dieker Syndrome
|
|
Classical Lissencephaly Syndrome
|
Lissencephaly Due To 17p13.3 Deletion
|
|
Monosomy 17p13.3
|
Telomeric Deletion 17p
|
|
Classical Lissencephaly
|
|
|
| Lissencephaly, X-Linked, 2 |
|
X-Linked Lissencephaly With Abnormal Genitalia
|
Hydranencephaly With Abnormal Genitalia
|
|
Xlag
|
Xlisg
|
|
X-Linked Lissencephaly With Ambiguous Genitalia
|
LISX2
|
|
Lissencephaly, X-Linked 2
|
X-Linked Lissencephaly 2
|
|
X-Linked Lissencephaly-Corpus Callosum Agenesis-Genital Anomalies Syndrome
|
Xlag Syndrome
|
|
Lissencephaly, X-Linked, With Ambiguous Genitalia
|
Xlis2
|
|
X-Linked Lissencephaly - Agenesis Of The Corpus Callosum - Genital Anomalies
|
X-Linked Lissencephaly-Agenesis Of The Corpus Callosum-Genital Anomalies Syndrome
|
|
Xlag Syndrome
|
Lissencephaly X-Linked With Ambiguous Genitalia
|
|
Lissencephaly, X-Linked, Type 2
|
Chromosome Xq26.3 Duplication Syndrome
|
|
|
| Band Heterotopia |
|
Subcortical Band Heterotopia
|
Double Cortex Syndrome
|
|
Subcortical Laminar Heterotopia
|
Double Cortex
|
|
Band Heterotopia Of Brain
|
BH
|
|
Heco
|
Heterotopic Cortex
|
|
Familial Band Heterotopia
|
Dc
|
|
Dc Syndrome
|
Heterotopia, Subcortical Band
|
|
Sbh
|
Sclh
|
|
Bhy
|
|
|
| Lissencephaly 10 |
|
|
| Lissencephaly 2 |
|
Norman-Roberts Syndrome
|
Lissencephaly Syndrome, Norman-Roberts Type
|
|
LIS2
|
Lissencephaly With Cerebellar Hypoplasia
|
|
Lch
|
Lissencephaly Syndrome Norman-Roberts Type
|
|
Norman Roberts Lissencephaly Syndrome
|
Lissencephaly 3
|
|
Lis3
|
Microlissencephaly Type A
|
|
Norman-Roberts Lissencephaly Syndrome
|
Lissencephaly, Type 2
|
|
Cobblestone Lissencephaly
|
|
|
| Porencephaly |
|
|
| Lissencephaly 7 With Cerebellar Hypoplasia |
|
LIS7
|
Lissencephaly 7, With Cerebellar Hypoplasia
|
|
Lissencephaly, Type 7, With Cerebellar Hypoplasia
|
|
|
| Leukodystrophy, Hypomyelinating, 6 |
|
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
|
|
|
| Baraitser-Winter Syndrome |
|
Fryns-Aftimos Syndrome
|
Brws
|
|
Cerebro-Frontofacial Syndrome, Type 3
|
Iris Coloboma With Ptosis, Hypertelorism, And Mental Retardation
|
|
Iris Coloboma With Ptosis Hypertelorism And Intellectual Disability
|
Trigonocephaly Ptosis Coloboma
|
|
Trigonocephaly Ptosis Intellectual Disability
|
Cerebrofrontofacial Syndrome Type 3
|
|
|
| Microcephaly |
|
Microencephaly
|
Microcephalus
|
|
Microcephalic
|
Nanocephaly
|
|
Congenital Microcephaly
|
Brain Hypoplasia
|
|
Brain Nondevelopment
|
Cephalic Hypoplasia
|
|
Undeveloped Cerebrum
|
Undeveloped Brain
|
|
Micrencephalon
|
Micrencephaly
|
|
|
| Corpus Callosum, Agenesis Of, With Abnormal Genitalia |
|
Proud Syndrome
|
Corpus Callosum Agenesis-Abnormal Genitalia Syndrome
|
|
Acc With Abnormal Genitalia
|
Proud-Levine-Carpenter Syndrome
|
|
Microcephaly-Corpus Callosum Agenesis-Abnormal Genitalia Syndrome
|
Corpus Callosum Agenesis With Abnormal Genitalia
|
|
New X-Linked Syndrome With Seizures, Acquired Micrencephaly, And Agenesis Of The Corpus Callosum
|
Proud Levine Carpenter Syndrome
|
|
Acc-Abnormal Genitalia Syndrome
|
Agenesis Of The Corpus Callosum, With Abnormal Genitalia
|
|
ACCAG
|
Micrencephaly-Corpus Callosum Agenesis-Abnormal Genitalia
|
|
Congenital Neurologic Anomalies
|
|
|
| Axonal Neuropathy |
|
|
| Parkinson Disease 7, Autosomal Recessive Early-Onset |
|
Autosomal Recessive Early-Onset Parkinson Disease 7
|
PARK7
|
|
Parkinson'S Disease 7
|
Autosomal Recessive Early-Onset Parkinson'S Disease 7
|
|
Parkinson Disease 7
|
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex Type 2
|
|
Autosomal Recessive Early-Onset Parkinson Disease Type 7
|
Parkinson Disease, Type 7
|
|
|
| Periventricular Nodular Heterotopia |
|
Periventricular Heterotopia
|
Pvnh
|
|
Familial Nodular Heterotopia
|
Heterotopia, Periventricular
|
|
Periventricular Heterotopia, X-Linked
|
|
|
| Polymicrogyria, Bilateral Frontoparietal |
|
Bilateral Frontoparietal Polymicrogyria
|
BFPP
|
|
Cerebellar Ataxia With Neuronal Migration Defect
|
|
|
| Hypomelanosis Of Ito |
|
Incontinentia Pigmenti Achromians
|
Nevus Of Ito
|
|
Ipa
|
Ito Hypomelanosis
|
|
Ito
|
Pigmentation Disorders
|
|
HMI
|
Incontinentia Pigmenti, Type I, Formerly
|
|
Ip1, Formerly
|
Bloch-Siemans Syndrome
|
|
Incontinentia Pigmenti Achromians Syndrome
|
Ito'S Nevus
|
|
Incontinentia Pigmenti Type 1
|
Nevi Of Ito
|
|
Nevus Fuscocaeruleus Acromiodeltoideus
|
Bloch Sulzberger Syndrome
|
|
Skin Pigmentation Disorder
|
|
|
| Hereditary Spastic Paraplegia |
|
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
|
|
|
| Macrocephaly/Autism Syndrome |
|
Macrocephaly-Autism Syndrome
|
Macrocephaly-Intellectual Disability-Autism Syndrome
|
|
MCEPHAS
|
|
|
| Spastic Diplegia |
|
Diplegic Infantile Cerebral Palsy
|
Little'S Disease
|
|
Cerebral Palsy
|
Cerebral Spastic Infantile Paralysis
|
|
Infantile Diplegic Cerebral Palsy
|
Infantile Spastic Cerebral Palsy
|
|
Littles Disease
|
Spastic Cerebral Palsy
|
|
|
| Spastic Cerebral Palsy |
|
Palsy, Cerebral, Spastic
|
Infantile Hemiplegia Nos
|
|
Postnatal Infantile Hemiplegia Nos
|
Congenital Spastic Hemiplegia
|
|
Spastic Hemiplegic Cerebral Palsy
|
Congenital Hemiplegia Nos
|
|
Hemiplegic Cerebral Palsy
|
Hemiplegic Infantile Cerebral Palsy
|
|
|
| Lissencephaly 1 |
|
LIS1
|
Classic Lissencephaly
|
|
Ils
|
Subcortical Laminar Heterotopia
|
|
Lissencephaly Due To Lis1 Mutation
|
Lissencephaly Sequence, Isolated
|
|
Lissencephaly, Classic
|
Pafah1b1-Related Lissencephaly
|
|
Classical Lissencephaly
|
Lissencephaly Type 1
|
|
Lissencephaly-1
|
Subcortical Band Heterotopia
|
|
Double Cortex
|
Lissencephaly Classic
|
|
Lissencephaly Sequence Isolated
|
Isolated Lissencephaly Sequence
|
|
Type 1 Lissencephaly
|
Lissencephaly Syndrome Type 1
|
|
SBH
|
Sclh
|
|
Lissencephaly, Type 1
|
Type I Lissencephaly
|
|
|
| Frontotemporal Dementia |
|
Pallidopontonigral Degeneration
|
Frontotemporal Lobar Degeneration
|
|
Semantic Dementia
|
FTD
|
|
Frontotemporal Lobe Dementia
|
Multiple System Tauopathy With Presenile Dementia
|
|
Dementia, Frontotemporal
|
Frontotemporal Dementia With Parkinsonism
|
|
Mstd
|
Frontotemporal Lobar Degeneration With Tau Inclusions
|
|
Ftld With Tau Inclusions
|
Dementia, Frontotemporal, With Parkinsonism
|
|
Fldem
|
Ftdp17
|
|
Disinhibition-Dementia-Parkinsonism-Amyotrophy Complex
|
Ddpac
|
|
Wilhelmsen-Lynch Disease
|
Wld
|
|
Ppnd
|
Dementia, Frontotemporal, With Or Without Parkinsonism
|
|
Semantic Primary Progressive Aphasia
|
Semantic Variant Ppa
|
|
Wilhemsen-Lynch Disease
|
Frontotemporal Dementia-Amyotrophic Lateral Sclerosis
|
|
Frontotemporal Dementia And Parkinsonism Linked To Chromosome 17
|
Ftd-Als
|
|
Ftld
|
Pick Complex
|
|
Pick Disease Of The Brain
|
Frontotemporal Dementia With Parkinsonism-17
|
|
Grn-Related Frontotemporal Dementia
|
Frontotemporal Dementia With Motor Neuron Disease
|
|
Dementia In Fronto-Temporal Lobar Degeneration
|
Ftd - [Frontotemporal Dementia]
|
|
Temple Dementia
|
Frontal Lobe Dementia
|
|
|
| Ocular Motility Disease |
|
Ocular Motility Disorders
|
Abnormality Of Eye Movement
|
|
Disorder Of Eye Movements
|
Eye Movement Disorder
|
|
Eye Movement Disorders
|
|
|
| Primary Microcephaly |
|
True Microcephaly
|
Microcephaly, Primary
|
|
|
| Primary Autosomal Recessive Microcephaly |
|
Autosomal Recessive Primary Microcephaly
|
Mcph
|
|
True Microcephaly
|
Microcephalia Vera
|
|
Microcephaly Vera
|
Microcephaly Primary Hereditary
|
|
Microcephaly, Primary, Autosomal Recessive
|
Primary Microcephaly
|
|
|
| Walker-Warburg Syndrome |
|
Hard Syndrome
|
Walker-Warburg Congenital Muscular Dystrophy
|
|
Cerebroocular Dysplasia-Muscular Dystrophy Syndrome
|
Cod-Md Syndrome
|
|
Chemke Syndrome
|
Hydrocephalus, Agyria And Retinal Dysplasia
|
|
Cerebroocular Dysgenesis
|
Cerebroocular Dysplasia Muscular Dystrophy Syndrome
|
|
Hard +/- E Syndrome
|
Pagon Syndrome
|
|
Warburg Syndrome
|
Hydrocephalus, Agyria, And Retinal Dysplasia
|
|
Mddga
|
Muscular Dystrophy-Dystroglycanopathy , Type A
|
|
Muscular Dystrophy-Dystroglycanopathy [With Brain And Eye Anomalies], Type A
|
Hydrocephalus-Agyria-Retinal Dysplasia Syndrome
|
|
Wws
|
Dystrophy, Muscular, Dystroglycanopathy, Type A
|
|
|
| Pontocerebellar Hypoplasia |
|
Pch
|
Congenital Pontocerebellar Hypoplasia
|
|
Opch
|
Hypoplasia, Pontocerebellar
|
|
Pontoneocerebellar Hypoplasia
|
Nonsyndromic Pontocerebellar Hypoplasia
|
|
|
| Retinitis Pigmentosa |
|
RP
|
Rod-Cone Dystrophy
|
|
Autosomal Recessive Retinitis Pigmentosa
|
Non-Syndromic Retinitis Pigmentosa
|
|
Pericentral Pigmentary Retinopathy
|
Pigmentary Retinopathy
|
|
Tapetoretinal Degeneration
|
Rcd
|
|
Retinitis Pigmentosa Autosomal Recessive
|
ARRP
|
|
Retinitis Pigmentosa, Autosomal Recessive
|
Retinitis Pigmentosa 1
|
|
|
| Hypomyelinating Leukodystrophy |
|
Hld
|
Leukodystrophy, Hypomyelinating
|
|
|
| Early Infantile Epileptic Encephalopathy |
|
Early Infantile Epileptic Encephalopathy With Burst-Suppression
|
Early Infantile Epileptic Encephalopathy With Suppression Bursts
|
|
Eiee
|
Early Infantile Epileptic Encephalopathy With Suppression-Bursts
|
|
Ohtahara Syndrome
|
Encephalopathy, Epileptic, Early Infantile
|
|
|
