| 疾病名称 |
别名 |
|
| Developmental And Epileptic Encephalopathy 2 |
|
Epileptic Encephalopathy, Early Infantile, 2
|
DEE2
|
|
Eiee2
|
Issx2
|
|
Developmental And Epileptic Encephalopathy, 2
|
Infantile Spasm Syndrome, X-Linked 2
|
|
Early Infantile Epileptic Encephalopathy 2
|
X-Linked Infantile Spasm Syndrome 2
|
|
Atypical Rett Syndrome Cdkl5-Related
|
Atypical Rett Syndrome Hanefeld Variant
|
|
Infantile Spasm Syndrome X-Linked 2
|
Rett Syndrome Early-Onset Seizure Variant
|
|
Rett Syndrome Variant With Infantile Spasms
|
Encephalopathy, Epileptic, Early Infantile, Type 2
|
|
|
| Cdkl5 Deficiency Disorder |
|
Cdkl5 Disorder
|
Cdkl5 Deficiency
|
|
Cdkl5-Related Disorder
|
Cdkl5
|
|
Early Infantile Epileptic Encephalopathy-2
|
X-Linked Dominant Infantile Spasm Syndrome-2
|
|
Cdkl5 Encephalopathy
|
Cdkl5-Related Epilepsy
|
|
Cdkl5-Related Epileptic Encephalopathy
|
Early Infantile Epileptic Encephalopathy 2
|
|
Cdkl5-Deficiency Disorder
|
Cdd
|
|
|
| Rett Syndrome |
|
Atypical Rett Syndrome
|
RTT
|
|
Rett Disorder
|
Rts
|
|
Autism, Dementia, Ataxia, And Loss Of Purposeful Hand Use
|
Rett Syndrome, Preserved Speech Variant
|
|
Rett Syndrome, Atypical
|
Rett'S Disorder
|
|
Rett Syndrome Variant
|
Autism-Dementia-Ataxia-Loss Of Purposeful Hand Use Syndrome
|
|
Cerebroatrophic Hyperammonemia
|
Rett Like Syndrome
|
|
Rett'S Syndrome
|
Atypical Rtt
|
|
Autism-Dementia-Ataxia-Loss Of Purposeful Hand Use
|
Rett Syndrome Preserved Speech Variant
|
|
Rett Syndrome Zappella Variant
|
Rett Syndrome, Zappella Variant
|
|
|
| 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
|
|
|
| Focal Epilepsy |
|
Partial Epilepsy
|
Epilepsies, Partial
|
|
Localisation-Related Epilepsy
|
|
|
| Motor Stereotypies |
|
|
| Retinoschisis 1, X-Linked, Juvenile |
|
Retinoschisis
|
X-Linked Retinoschisis
|
|
X-Linked Juvenile Retinoschisis
|
RS1
|
|
XLRS1
|
X-Linked Juvenile Retinoschisis 1
|
|
Xlrs
|
Retinoschisis, X-Linked
|
|
Rs
|
Congenital X-Linked Retinoschisis
|
|
Degenerative Retinoschisis
|
Juvenile Retinoschisis
|
|
Xjr
|
Retinoschisis Juvenile X-Linked 1
|
|
Retinoschisis, Juvenile, X-Linked
|
Retinoschisis, Degenerative
|
|
|
| Juvenile Retinoschisis |
|
X-Linked Retinoschisis
|
Retinoschisis X-Linked
|
|
Retinoschisis Juvenile X Chromosome-Linked
|
X-Linked Juvenile Retinoschisis
|
|
Xjr
|
Retinoschisis, Juvenile
|
|
Retinoschisis, Juvenile, X-Linked
|
Xlrs - [X-Linked Retinoschisis]
|
|
|
| Bruxism |
|
Sleep Bruxism
|
Sleep-Related Bruxism
|
|
Bruxism - Teeth Grinding
|
Grinding Teeth
|
|
Sleep Related Bruxism
|
Teeth Grinding
|
|
Sleep Related Teeth Grinding
|
|
|
| Stereotypic Movement Disorder |
|
Stereotypy Habit Disorder
|
Stereotyped Repetitive Movements
|
|
Stereotyped Disorder
|
Stereotypes Nos
|
|
Stereotype Habit Disorder
|
|
|
| Developmental And Epileptic Encephalopathy 4 |
|
DEE4
|
Epileptic Encephalopathy, Early Infantile, 4
|
|
Eiee4
|
Early Infantile Epileptic Encephalopathy 4
|
|
Stxbp1-Related Early-Onset Encephalopathy
|
Early Myoclonic Encephalopathy
|
|
Developmental And Epileptic Encephalopathy, 4
|
Stxbp1 Disorders
|
|
Stxbp1 Encephalopathy
|
Developmental And Epileptic Encephalopathy, Type 4
|
|
Early-Infantile Epileptic Encephalopathy 4
|
Stxbp1 Encephalopathy With Epilepsy
|
|
Stxbp1 Epileptic Encephalopathy
|
Stxbp1-Related Developmental And Epileptic Encephalopathy
|
|
Stxbp1-Related Epileptic Encephalopathy
|
Eme
|
|
Neonatal Epilepsy With Suppression-Burst Pattern
|
Encephalopathy, Epileptic, Early Infantile, Type 4
|
|
|
| Angelman Syndrome |
|
AS
|
Happy Puppet Syndrome
|
|
Happy Puppet Syndrome, Formerly
|
Puppetlike Syndrome
|
|
|
| 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
|
|
|
| Autism |
|
Autistic Disorder
|
Autism Susceptibility 1
|
|
Childhood Autism
|
Autistic Disorder Of Childhood Onset
|
|
Infantile Autism
|
Kanner'S Syndrome
|
|
Autistic
|
|
|
| Developmental And Epileptic Encephalopathy |
|
Encephalopathy, Developmental And Epileptic
|
|
|
| Ohtahara Syndrome |
|
|
| Fundus Dystrophy |
|
Retinal Dystrophy
|
Retinal Dystrophies
|
|
Dystrophy, Retinal
|
|
|
| Nicolaides-Baraitser Syndrome |
|
NCBRS
|
Nbs
|
|
Sparse Hair And Mental Retardation
|
Sparse Hair And Intellectual Disability
|
|
Intellectual Disability-Sparse Hair-Brachydactyly Syndrome
|
Nicolaides Baraitser Syndrome
|
|
|
| Developmental And Epileptic Encephalopathy 1 |
|
Epileptic Encephalopathy, Early Infantile, 1
|
Infantile Epileptic-Dyskinetic Encephalopathy
|
|
DEE1
|
Eiee1
|
|
Issx1
|
Xmesid
|
|
X-Linked Infantile Spasm Syndrome 1
|
X-Linked Infantile Spasm Syndrome
|
|
X-Linked Spasticity-Intellectual Disability-Epilepsy Syndrome
|
Developmental And Epileptic Encephalopathy, 1
|
|
Infantile Epileptic Dyskinetic Encephalopathy
|
Infantile Spasm Syndrome, X-Linked 1
|
|
West Syndrome, X-Linked
|
Ohtahara Syndrome, X-Linked
|
|
Early Infantile Epileptic Encephalopathy 1
|
Early Infantile Epileptic Encephalopathy-1
|
|
Issx
|
X-Linked Ohtahara Syndrome
|
|
X-Linked West Syndrome
|
Infantile Spasm Syndrome X-Linked 1
|
|
Myoclonic Epilepsy X-Linked With Intellectual Disability And Spasticity
|
Ohtahara Syndrome X-Linked
|
|
West Syndrome X-Linked
|
Encephalopathy, Epileptic, Early Infantile, Type 1
|
|
|
| Encephalopathy |
|
Brain Diseases
|
Encephalopathies
|
|
Toxic Encephalopathy
|
Toxic Brain Fever
|
|
Toxic Brain Inflammation
|
Toxic Brain Stem Inflammation
|
|
Toxic Cerebral Fever
|
Toxic Cerebrospinal Fever
|
|
Toxic Cerebrospinal Inflammation
|
Encephalopathy Nec
|
|
Encephalopathy Nos
|
Encephalopathy Disease
|
|
Encephalopathy Syndrome
|
|
|
| Epilepsy |
|
Epilepsy Syndrome
|
Epileptic Syndrome
|
|
Epilepsies
|
Symptomatic Epilepsies
|
|
Post Traumatic Epilepsy
|
Traumatic Epilepsy
|
|
Traumatic Epileptic
|
Epilepsy Due To Hippocampal Sclerosis
|
|
Epilepsy With Ammon'S Horn Sclerosis
|
Epilepsy Due To Cortical Dysplasia
|
|
Epilepsy Due To Neuronal Migration Disorders
|
|
|
| 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
|
|
|
| Gene Duplication Disease |
|
Gene Duplication Syndrome
|
|
|
| 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
|
|
|
| Infancy Electroclinical Syndrome |
|
|
| Gait Apraxia |
|
|
| Aicardi Syndrome |
|
AIC
|
Corpus Callosum, Agenesis Of, With Chorioretinal Abnormality
|
|
Agenesis Of Corpus Callosum With Chorioretinal Abnormality
|
Aicardi'S Syndrome
|
|
Agenesis Of Corpus Callosum With Infantile Spasms And Ocular Abnormalities
|
Callosal Agenesis And Ocular Abnormalities
|
|
Chorioretinal Anomalies With Acc
|
|
|
| Nescav Syndrome |
|
NESCAVS
|
Neurodegeneration And Spasticity With Or Without Cerebellar Atrophy Or Cortical Visual Impairment
|
|
Mrd9
|
Intellectual Disability, Autosomal Dominant 9
|
|
Mental Retardation, Autosomal Dominant 9, Formerly
|
Mrd9, Formerly
|
|
Autosomal Dominant Intellectual Disability 9
|
Autosomal Dominant Non-Syndromic Intellectual Disability 9
|
|
Mental Retardation, Autosomal Dominant 9
|
|
|
| Christianson Syndrome |
|
X-Linked Angelman-Like Syndrome
|
X-Linked Intellectual Disability, South African Type
|
|
X-Linked Intellectual Disability-Craniofacial Dysmorphism-Epilepsy-Ophthalmoplegia-Cerebellar Atrophy Syndrome
|
Mental Retardation, Microcephaly, Epilepsy, And Ataxia Syndrome
|
|
Mental Retardation, X-Linked Syndromic, Christianson Type
|
Mrxsch
|
|
Angelman-Like Syndrome X-Linked
|
Intellectual Disability Microcephaly Epilepsy And Ataxia Syndrome
|
|
Intellectual Disability X-Linked Syndromic Christianson Type
|
Mrxs Christianson
|
|
X-Linked Intellectual Disability - Craniofacial Dysmorphism - Epilepsy - Ophthalmoplegia - Cerebellar Atrophy
|
Angelman-Like Syndrome, X-Linked
|
|
Intellectual Deficit, X-Linked, South African Type
|
Mental Retardation X-Linked, South African Type
|
|
Mental Retardation, X-Linked, Syndromic, Christianson Type
|
|
|
| Peho Syndrome |
|
Progressive Encephalopathy With Edema, Hypsarrhythmia, And Optic Atrophy
|
Infantile Cerebellooptic Atrophy
|
|
PEHO
|
Progressive Encephalopathy With Edema, Hypsarrhythmia And Optic Atrophy
|
|
Progressive Encephalopathy-Optic Atrophy Syndrome
|
|
|
| Neonatal Period Electroclinical Syndrome |
|
|
| Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Chromosome 5q14.3 Deletion Syndrome
|
5q14.3 Microdeletion Syndrome
|
|
Mental Retardation, Autosomal Dominant 20
|
NEDHSIL
|
|
Autosomal Dominant Mental Retardation 20
|
Mrd20
|
|
Del(5)(Q14.3)
|
Monosomy 5q14.3
|
|
Intellectual Disability, Autosomal Dominant 20
|
Mental Retardation, Autosomal Dominant 20, Formerly
|
|
Mrd20, Formerly
|
Mental Retardation, Stereotypic Movements, Epilepsy, And/Or Cerebral Malformations
|
|
5q14.3 Deletion Syndrome
|
Autosomal Dominant Intellectual Disability 20
|
|
Mental Retardation, Autosomal Dominant, Type 20
|
|
|
| Pitt-Hopkins Syndrome |
|
PTHS
|
Encephalopathy, Severe Epileptic, With Autonomic Dysfunction
|
|
Mental Retardation, Syndromal, With Intermittent Hyperventilation
|
Intellectual Disability, Wide Mouth, Distinctive Facial Features, And Intermittent Hyperventilation Followed By Apnea
|
|
Pitt Hopkins Syndrome
|
Phs
|
|
Encephalopathy Severe Epileptic With Autonomic Dysfunction
|
|
|
| Partington Syndrome |
|
X-Linked Reticulate Pigmentary Disorder
|
PRTS
|
|
Partington X-Linked Mental Retardation Syndrome
|
Mrxs1
|
|
Mrx36
|
Intellectual Developmental Disorder, X-Linked, Syndromic 1
|
|
Partington Disease
|
Pdr
|
|
Partington-Mulley Syndrome
|
Russell-Silver Syndrome, X-Linked
|
|
Mental Retardation, X-Linked, Syndromic 1
|
Mental Retardation, X-Linked, With Dystonic Movements, Ataxia, And Seizures
|
|
Mental Retardation, X-Linked 36
|
X-Linked Reticulate Pigmentary Disorder With Systemic Manifestations
|
|
X-Linked Russell-Silver Syndrome
|
Intelectual Disability-Dystonic Movements-Ataxia-Seizures Syndrome
|
|
Intellectual Disability, X-Linked, Syndromic 1
|
Intellectual Disability, X-Linked, With Dystonic Movements, Ataxia, And Seizures
|
|
Partington X-Linked Intellectual Disability Syndrome
|
X-Linked Intellectual Deficit-Dystonia-Dysarthria
|
|
X-Linked Mental Retardation With Dystonic Movements, Ataxia, And Seizures
|
Familial Cutaneous Amyloidosis
|
|
X-Linked Cutaneous Amyloidosis
|
Xlpdr
|
|
X-Linked Intellectual Disability-Dystonia-Dysarthria Syndrome
|
Pigmentary Disorder, Reticulate, With Systemic Manifestations
|
|
|
| Childhood Electroclinical Syndrome |
|
|
| Mowat-Wilson Syndrome |
|
MOWS
|
Microcephaly, Mental Retardation, And Distinct Facial Features, With Or Without Hirschsprung Disease
|
|
Hirschsprung Disease-Mental Retardation Syndrome
|
Mowat-Wilson Syndrome Due To Monosomy 2q22
|
|
Hirschsprung Disease Mental Retardation Syndrome
|
Microcephaly, Mental Retardation, And Distinct Facial Featrues, With Or Without Hirschprung Disease
|
|
Hirschsprung Disease - Intellectual Disability Syndrome
|
Hirschsprung Disease Intellectual Disability Syndrome
|
|
Intellectual Disability, Microcephaly, And Distinct Facial Features With Or Without Hirschsprung Disease
|
Mws
|
|
Hirschsprung Disease-Intellectual Disability Syndrome
|
Hirschsprung Disease And Intellectual Disability Due To 2q22 Microdeletion
|
|
Hirschsprung Disease And Intellectual Disability Due To Del(2)(Q22)
|
Hirschsprung Disease And Intellectual Disability Due To Monosomy 2q22
|
|
Mowat-Wilson Syndrome Due To 2q22 Microdeletion
|
Mowat-Wilson Syndrome Due To Del(2)Q(22)
|
|
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
|
Hirschsprung Disease And Intellectual Disability Due To A Zeb2 Point Mutation
|
|
|
| Lennox-Gastaut Syndrome |
|
Lennox Syndrome
|
Encephalopathy Of Childhood
|
|
Epileptic Encephalopathy Lennox-Gastaut Type
|
Childhood Epileptic Encephalopathy With Diffuse Slow Spikes And Waves
|
|
Lgs
|
|
|
| Developmental And Epileptic Encephalopathy 21 |
|
DEE21
|
Epileptic Encephalopathy, Early Infantile, 21
|
|
Eiee21
|
Developmental And Epileptic Encephalopathy, 21
|
|
Early Infantile Epileptic Encephalopathy 21
|
Encephalopathy, Epileptic, Early Infantile, Type 21
|
|
|
| Landau-Kleffner Syndrome |
|
Acquired Epileptic Aphasia
|
Lks
|
|
Acquired Aphasia With Convulsive Disorder
|
Acquired Epileptiform Aphasia
|
|
Landau Kleffner Syndrome
|
Childhood Epileptic Aphasia
|
|
|
| Benign Neonatal Seizures |
|
Benign Neonatal Epilepsy
|
Benign Familial Neonatal Seizures
|
|
Benign Neonatal Convulsions
|
Benign Familial Neonatal Convulsions
|
|
Benign Familial Neonatal Epilepsy
|
Bfne
|
|
Bfns
|
Seizures, Benign Neonatal
|
|
Neonatal Convulsions Benign
|
Epilepsy, Benign Neonatal
|
|
Epilepsy, Benign Neonatal, 2
|
Benign Familial Convulsion
|
|
Familial Benign Neonatal Epilepsy
|
|
|
| Developmental And Epileptic Encephalopathy 87 |
|
DEE87
|
Epileptic Encephalopathy, Early Infantile, 87
|
|
Eiee87
|
Developmental And Epileptic Encephalopathy, 87
|
|
Early Infantile Epileptic Encephalopathy 87
|
|
|
| Epilepsy, Pyridoxine-Dependent |
|
Pyridoxine-Dependent Epilepsy
|
PDE
|
|
Pyridoxine Dependency With Seizures
|
Vitamin B6-Dependent Seizures
|
|
EPD
|
Aasa Dehydrogenase Deficiency
|
|
Antiquitin Deficiency
|
Pyridoxine Dependency
|
|
Glutamate Decarboxylase Deficiency
|
Pyridoxine-Dependent Seizures
|
|
Deficiency Of Glutamate Decarboxylase
|
|
|
| Developmental And Epileptic Encephalopathy 9 |
|
Efmr
|
Epileptic Encephalopathy, Early Infantile, 9
|
|
Eiee9
|
DEE9
|
|
Juberg-Hellman Syndrome
|
Epilepsy, Female-Restricted, With Mental Retardation
|
|
Developmental And Epileptic Encephalopathy, 9
|
Early Infantile Epileptic Encephalopathy 9
|
|
Early Infantile Female-Limited Epilecptic Encephalopathy
|
Female Restricted Epilepsy With Mental Retardation
|
|
Juberg Hellman Syndrome
|
Pcdh19-Related Female-Limited Epilepsy
|
|
Epilepsy And Intellectual Disability Limited To Females
|
Epilepsy, Female Restricted, With Intellectual Disability
|
|
Familial Epilepsy And Intellectual Disability Limited To Females
|
Female Restricted Epilepsy With Intellectual Delays
|
|
Pcdh19-Related Fle
|
Pcdh19-Related Infantile Epileptic Encephalopathy
|
|
Female Restricted Epilepsy With Intellectual Disability
|
Encephalopathy, Epileptic, Early Infantile, Type 9
|
|
|
| Pitt-Hopkins-Like Syndrome 1 |
|
Cortical Dysplasia-Focal Epilepsy Syndrome
|
CDFES
|
|
PTHSL1
|
Cdfe Syndrome
|
|
Pitt-Hopkins Like Syndrome 1
|
Pitt-Hopkins-Like Syndrome-1
|
|
Cntnap2-Related Developmental And Epileptic Encephalopathy
|
Cntnap2-Related Dee
|
|
Mesh
|
D006985
|
|
Mesh
|
D008607
|
|
|
| Benign Familial Neonatal Epilepsy |
|
Familial Neonatal Seizures
|
Bfns
|
|
Benign Familial Neonatal Convulsions
|
Benign Familial Neonatal Seizures
|
|
Epilepsy Benign Neonatal Familial
|
Familial Benign Neonatal Convulsions
|
|
Benign Neonatal Familial Convulsions
|
Familial Benign Neonatal Epilepsy
|
|
Epilepsy, Benign Neonatal, 2
|
Benign Familial Convulsion
|
|
|
| Myasthenic Syndrome, Congenital, 11, Associated With Acetylcholine Receptor Deficiency |
|
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
|
|
|
| Cardiofaciocutaneous Syndrome 1 |
|
Cardiofaciocutaneous Syndrome
|
Cfc Syndrome
|
|
Cardio-Facio-Cutaneous Syndrome
|
CFC1
|
|
Cfcs
|
Cardio-Facial-Cutaneous Syndrome
|
|
Congenital Heart Defects Characteristic Facial Appearance Ectodermal Abnormalities And Growth Failure
|
Cardiofaciocutaneous Syndrome, Type 1
|
|
|
| Dravet Syndrome |
|
Severe Myoclonic Epilepsy Of Infancy
|
Severe Myoclonic Epilepsy In Infancy
|
|
Smei
|
Epileptic Encephalopathy, Early Infantile, 6
|
|
DRVT
|
Developmental And Epileptic Encephalopathy 6a
|
|
Dee6a
|
Eiee6
|
|
Developmental And Epileptic Encephalopathy, 6
|
Dee6
|
|
Developmental And Epileptic Encephalopathy 6
|
Early Infantile Epileptic Encephalopathy 6
|
|
Myoclonic Epilepsy, Severe, Of Infancy
|
Sme
|
|
Severe Myoclonus Epilepsy Of Infancy
|
Borderline Smei
|
|
Smeb
|
Smeb-M
|
|
Smeb-O
|
Smeb-Sw
|
|
Smei-Borderland
|
Smei-Borderland More Than One Feature
|
|
Smei-Borderland-Myoclonic Seizures
|
Smei-Borderland-Spike Wave
|
|
Intractable Childhood Epilepsy With Generalized Tonic-Clonic Seizures
|
ICEGTC
|
|
Infantile Severe Myoclonic Epilepsy
|
Epilepsy, Intractable Childhood, With Generalized Tonic-Clonic Seizures
|
|
|
| Sturge-Weber Syndrome |
|
SWS
|
Encephalotrigeminal Angiomatosis
|
|
Encephalofacial Angiomatosis
|
Sturge-Weber-Dimitri Syndrome
|
|
Sturge-Weber-Krabbe Syndrome
|
Fourth Phacomatosis
|
|
Leptomeningeal Angiomatosis
|
Meningeal Capillary Angiomatosis
|
|
Sturge-Weber-Krabbe Angiomatosis
|
Sturge-Weber Syndrome, Somatic, Mosaic
|
|
Sws Type I - Facial And Leptomeningeal Angiomas
|
Sws Type Ii - Facial Angioma Alone, No Cns Involvement
|
|
Sws Type Iii - Isolated Leptomeningeal Angiomas
|
Sturge Weber Syndrome
|
|
Angiomatosis Aculoorbital-Thalamic Syndrome
|
Encephalofacial Hemangiomatosis
|
|
Encephalofacial Hemangiomatosis Syndrome
|
Meningo-Oculo-Facial Angiomatosis
|
|
Meningofacial Angiomatosis-Cerebral Calcification Syndrome
|
Neuroretinoangiomatosis
|
|
Phakomatosis, Sturge-Weber
|
Weber-Sturge-Dimitri Syndrome
|
|
|
| Alcohol-Related Neurodevelopmental Disorder |
|
Static Encephalopathy
|
Arnd
|
|
Encephalopathy, Static
|
Alcohol Related Neurodevelopmental Disorder
|
|
|
| Pervasive Developmental Disorder |
|
Pervasive Development Disorder
|
Pervasive Developmental Disorders
|
|
Pervasive Child Development Disorders
|
Autistic Behavior
|
|
Autism Spectrum Disorders
|
|
|
| Epilepsy With Generalized Tonic-Clonic Seizures |
|
Tonic-Clonic Epilepsy
|
Epileptic Seizures, Tonic-Clonic
|
|
Grand Mal Epilepsy
|
Epilepsy, Tonic-Clonic
|
|
|
| Benign Familial Infantile Epilepsy |
|
Benign Familial Infantile Seizures
|
Bfie
|
|
Benign Familial Infantile Convulsion
|
Bfic
|
|
Bfis
|
Benign Familial Infantile Convulsions
|
|
Familial Benign Neonatal Epilepsy
|
Watanabe-Vigevano Syndrome
|
|
|
| Developmental And Epileptic Encephalopathy 14 |
|
Malignant Migrating Partial Seizures Of Infancy
|
Eiee14
|
|
Epilepsy Of Infancy With Migrating Focal Seizures
|
Mmpsi
|
|
DEE14
|
Epileptic Encephalopathy, Early Infantile, 14
|
|
Early Infantile Epileptic Encephalopathy 14
|
Malignant Migrating Partial Epilepsy Of Infancy
|
|
Migrating Partial Epilepsy Of Infancy
|
Migrating Partial Seizures Of Infancy
|
|
Mmpei
|
Mpei
|
|
Mpsi
|
Malignant Migrating Focal Seizures Of Infancy
|
|
Migrating Partial Seizures In Infancy
|
Developmental And Epileptic Encephalopathy, 14
|
|
Encephalopathy, Epileptic, Early Infantile, Type 14
|
|
|
| Photosensitive Epilepsy |
|
Pse
|
Photogenic Epilepsy
|
|
Photoparoxysmal Response
|
Reflex Epilepsy, Photosensitive
|
|
Photoparoxysmal Response 1
|
|
|
| Cerebral Creatine Deficiency Syndrome 1 |
|
Creatine Transporter Deficiency
|
Creatine Transporter Defect
|
|
Slc6a8 Deficiency
|
X-Linked Creatine Deficiency Syndrome
|
|
CCDS1
|
Creatine Deficiency Syndrome, X-Linked
|
|
X-Linked Creatine Deficiency
|
Creatine Deficiency, X-Linked
|
|
X-Linked Creatine Transporter Deficiency
|
Mental Retardation, X-Linked, With Seizures, Short Stature, And Midface Hypoplasia
|
|
Mental Retardation, X-Linked, With Creatine Transport Deficiency
|
Intellectual Disability, X-Linked With Seizures, Short Stature And Midface Hypoplasia
|
|
Intellectual Disability, X-Linked, With Creatine Transport Deficiency
|
Slc6a8-Related Creatine Transporter Deficiency
|
|
Deficiency, Cerebral Creatine, Syndrome, Type 1
|
|
|
| Specific Developmental Disorder |
|
|
| Autosomal Dominant Severe Congenital Neutropenia |
|
Severe Congenital Neutropenia Autosomal Dominant
|
Neutropenia, Congenital, Severe, Autosomal Dominant
|
|
|
| Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
|
Adnfle
|
Autosomal Dominant Sleep-Related Hypermotor Epilepsy
|
|
Enfl
|
Benign Familial Infantile Seizures 6
|
|
Benign Familial Infantile Seizures, 6
|
Nocturnal Frontal Lobe Epilepsy-4
|
|
Enfl1
|
Epilepsy, Nocturnal Frontal Lobe, 1
|
|
Epilepsy, Nocturnal Frontal Lobe, Type 1
|
|
|
| Childhood Absence Epilepsy |
|
Pyknolepsy
|
Petit Mal Epilepsy
|
|
Absence Seizures
|
Absence Seizure
|
|
Petit Mal Seizure
|
Absence Epilepsy, Childhood
|
|
Pykno-Epilepsy
|
Epilepsy, Absence
|
|
Absence Epilepsy
|
Pycnolepsy
|
|
|
| Generalized Epilepsy With Febrile Seizures Plus |
|
Gefs+
|
Genetic Epilepsy With Febrile Seizures Plus
|
|
Generalized Epilepsy With Febrile Seizures-Plus
|
Genetic Epilepsy With Febrile Seizures-Plus
|
|
Epilepsy, Generalized, With Febrile Seizures Plus
|
|
|
| 3-Methylglutaconic Aciduria, Type Iii |
|
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
|
|
|
| Microcephaly |
|
Microencephaly
|
Microcephalus
|
|
Microcephalic
|
Nanocephaly
|
|
Congenital Microcephaly
|
Brain Hypoplasia
|
|
Brain Nondevelopment
|
Cephalic Hypoplasia
|
|
Undeveloped Cerebrum
|
Undeveloped Brain
|
|
Micrencephalon
|
Micrencephaly
|
|
|
| Epilepsy, Myoclonic Juvenile |
|
Juvenile Myoclonic Epilepsy
|
Janz Syndrome
|
|
Jme
|
Myoclonic Epilepsy, Juvenile, Susceptibility To, 1
|
|
EJM
|
Myoclonic Epilepsy, Juvenile
|
|
Petit Mal, Impulsive
|
Myoclonic Epilepsy, Juvenile 1
|
|
Myoclonic Epilepsy, Juvenile, 1
|
Adolescent Myoclonic Epilepsy
|
|
Juvenile Myoclonus Epilepsy
|
Juvenile Myoclonic Epilepsy 1
|
|
EJM1
|
Petit Mal Impulsive
|
|
Susceptibility To Juvenile Myoclonic Epilepsy 1
|
Myoclonic Epilepsy Juvenile
|
|
Epilepsy, Myoclonic, Juvenile
|
Myoclonic Epilepsy Of Janz
|
|
Jme - [Juvenile Myoclonic Epilepsy]
|
|
|
| Glycine Encephalopathy |
|
Non-Ketotic Hyperglycinemia
|
Nonketotic Hyperglycinemia
|
|
NKH
|
GCE
|
|
Hyperglycinemia, Nonketotic
|
Hyperglycinemia Nonketotic
|
|
Infantile Glycine Encephalopathy
|
Encephalopathy, Glycine
|
|
Glycine Synthase Deficiency
|
Nka
|
|
Neonatal Glycine Encephalopathy
|
Classic Glycine Encephalopathy
|
|
Neonatal Nkh
|
Neonatal Non-Ketotic Hyperglycinemia
|
|
Infantile Nkh
|
Infantile Non-Ketotic Hyperglycinemia
|
|
Non-Ketotic Hyperglycinaemia
|
Glycine Cleavage Deficiency
|
|
Nonketotic Hyperglycinaemia
|
|
|
| Epilepsy, Idiopathic Generalized |
|
Idiopathic Generalized Epilepsy
|
Generalised Epilepsy
|
|
Epilepsy, Generalized
|
EIG
|
|
Ige
|
Epilepsy, Idiopathic Generalized, Susceptibility To, 1
|
|
Epilepsy, Idiopathic Generalized 1
|
Epilepsy, Idiopathic Generalized, Susceptibility To
|
|
Epilepsy, Idiopathic, Generalized
|
Epilepsy, Idiopathic, Generalized, Susceptibility To, Type 1
|
|
|
| Benign Epilepsy With Centrotemporal Spikes |
|
Rolandic Epilepsy
|
Benign Rolandic Epilepsy
|
|
Epilepsy, Rolandic
|
Bcects
|
|
Benign Childhood Epilepsy With Centrotemporal Spike
|
Sylvan Seizures
|
|
Becrs
|
Bects
|
|
Bre
|
Benign Epilepsy Of Childhood With Centrotemporal Spikes
|
|
Benign Familial Epilepsy Of Childhood With Rolandic Spikes
|
Centrotemporal Epilepsy
|
|
|
| Syndromic X-Linked Intellectual Disability |
|
X-Linked Syndromic Intellectual Disability
|
|
|
| Syndromic Intellectual Disability |
|
|
| Williams-Beuren Syndrome |
|
Williams Syndrome
|
WBS
|
|
Wms
|
Deletion 7q11.23
|
|
Monosomy 7q11.23
|
Chromosome 7q11.23 Deletion Syndrome, 1.5- To 1.8-Mb
|
|
Fanconi Schlesinger Syndrome
|
Beuren Syndrome
|
|
Elfin Facies Syndrome
|
Elfin Facies With Hypercalcemia
|
|
Hypercalcemia-Supravalvar Aortic Stenosis
|
Ws
|
|
|
