MECP2 - methyl-CpG binding protein 2 Gene

Homo sapiens

Also known as RS; RTS; RTT; PPMX; MRX16; MRX79; MRXSL; AUTSX3; MRXS13

Gene ID: 4204 | Gene type: protein coding

About MECP2

Cytogenetic location: Xq28 Genomic coordinates (GRCh38): X:154,021,573-154,097,717 (from NCBI)

This gene has 29 transcripts (splice variants), 193 orthologues, 1 paralogue and is associated with 17 phenotypes. Ubiquitous expression in ovary (RPKM 10.4), brain (RPKM 8.2) and 25 other tissues.

Summary

DNA methylation is the major modification of eukaryotic genomes and plays an essential role in mammalian development. Human proteins MECP2, MBD1, MBD2, MBD3, and MBD4 comprise a family of nuclear proteins related by the presence in each of a methyl-CpG binding domain (MBD). Each of these proteins, with the exception of MBD3, is capable of binding specifically to methylated DNA. MECP2, MBD1 and MBD2 can also repress transcription from methylated gene promoters. In contrast to Other MBD family members, MECP2 is X-linked and subject to X inactivation. MECP2 is dispensible in stem cells, but is essential for embryonic development. MECP2 gene mutations are the cause of most cases of Rett syndrome, a progressive neurologic developmental disorder and one of the most common causes of cognitive disability in females. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2015]

MECP2 Products(10)

mRNA	Protein	Name
NM_001110792.2	NP_001104262.1	methyl-CpG-binding protein 2 isoform 2
NM_001316337.2	NP_001303266.1	methyl-CpG-binding protein 2 isoform 3
NM_001369391.2	NP_001356320.1	methyl-CpG-binding protein 2 isoform 3
NM_001369392.2	NP_001356321.1	methyl-CpG-binding protein 2 isoform 3
NM_001369393.2	NP_001356322.1	methyl-CpG-binding protein 2 isoform 3
NM_001369394.2	NP_001356323.1	methyl-CpG-binding protein 2 isoform 3
NM_001386137.1	NP_001373066.1	methyl-CpG-binding protein 2 isoform 4
NM_001386138.1	NP_001373067.1	methyl-CpG-binding protein 2 isoform 4
NM_001386139.1	NP_001373068.1	methyl-CpG-binding protein 2 isoform 4
NM_004992.4	NP_004983.1	methyl-CpG-binding protein 2 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables double-stranded methylated DNA binding	IMP IMP: Inferred from mutant phenotype	17296936	GOA
enables molecular adaptor activity	EXP EXP: Inferred from Experiment	20405910	GOA
enables molecular condensate scaffold activity	IMP IMP: Inferred from mutant phenotype	32698189	GOA
enables nucleic acid binding	EXP EXP: Inferred from Experiment	20405910	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	11441023	GOA
enables transcription corepressor activity	IDA IDA: Inferred from direct assay	10773092	GOA

Biological Process GO Annotation	Evidence	Reference	Source
acts upstream of or within genomic imprinting	IMP IMP: Inferred from mutant phenotype	15608638	GOA
involved in negative regulation of DNA-templated transcription	IDA IDA: Inferred from direct assay	11441023	GOA
involved in negative regulation of angiogenesis	IMP IMP: Inferred from mutant phenotype	23960241	GOA
involved in negative regulation of blood vessel endothelial cell migration	IDA IDA: Inferred from direct assay	23960241	GOA
involved in negative regulation of gene expression	IDA IDA: Inferred from direct assay	23960241	GOA
involved in negative regulation of gene expression via chromosomal CpG island methylation	IDA IDA: Inferred from direct assay	23960241	GOA
involved in positive regulation of microtubule nucleation	IMP IMP: Inferred from mutant phenotype	25527496	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in centrosome	IMP IMP: Inferred from mutant phenotype	25527496	GOA
located in heterochromatin	IDA IDA: Inferred from direct assay	11441023	GOA
located in nucleus	IDA IDA: Inferred from direct assay	11441023	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

MECP2 Protein Structure

MBD

0
100
200
300
400
486 a.a.

Protein Preferred Names

Protein Names

methyl-CpG-binding protein 2

meCp-2 protein

MECP2 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Cross	MECP2	P51608	Tbl1xr1	Mus musculus	Q8BHJ5	Pull Down	23770565
Cross	MECP2	P51608	Tbl1xr1	Mus musculus	Q8BHJ5	Anti Tag CoIP	23770565
Intra	MECP2	P51608	SIN3A	Homo sapiens	Q96ST3	Anti Tag CoIP	23770565
Intra	MECP2	P51608	HIPK2	Homo sapiens	Q9H2X6	Anti Bait CoIP	19820693
Cross	MECP2	P51608	Ncor1	Mus musculus	Q60974	Anti Tag CoIP	23770565
Cross	MECP2	P51608	Ncor1	Mus musculus	Q60974	Pull Down	23770565
Intra	MECP2	P51608	HSPB1	Homo sapiens	P04792	Y2H Array	32814053
Intra	MECP2	P51608	HSPB1	Homo sapiens	P04792	Y2H Pooling	32814053
Intra	MECP2	P51608	HSPB1	Homo sapiens	P04792	Validated Y2H	32814053
Cross	MECP2	P51608	Hipk2	Mus musculus	Q9QZR5	Y2H	19820693
Cross	MECP2	P51608	Hipk2	Mus musculus	Q9QZR5	Anti Tag CoIP	19820693
Intra	MECP2	P51608	NEFL	Homo sapiens	P07196	Validated Y2H	32814053
Intra	MECP2	P51608	NEFL	Homo sapiens	P07196	Y2H Array	32814053
Intra	MECP2	P51608	NEFL	Homo sapiens	P07196	Y2H Pooling	32814053
Cross	MECP2	P51608	Ncor2	Mus musculus	Q9WU42	Anti Tag CoIP	23770565
Cross	MECP2	P51608	Ncor2	Mus musculus	Q9WU42	Pull Down	23770565
Intra	MECP2	P51608	SMARCA2	Homo sapiens	P51531	Crosslink	15696166
Intra	MECP2	P51608	KLHL20	Homo sapiens	Q9Y2M5	Anti Tag CoIP	33961781
Intra	MECP2	P51608	WFS1	Homo sapiens	O76024	Validated Y2H	32814053
Intra	MECP2	P51608	WFS1	Homo sapiens	O76024	Y2H Array	32814053
Intra	MECP2	P51608	WFS1	Homo sapiens	O76024	Y2H Pooling	32814053
Intra	MECP2	P51608	PRPS1	Homo sapiens	P60891	Y2H Pooling	32814053
Intra	MECP2	P51608	PRPS1	Homo sapiens	P60891	Validated Y2H	32814053
Intra	MECP2	P51608	PRPS1	Homo sapiens	P60891	Y2H Array	32814053
Intra	MECP2	P51608	MAX	Homo sapiens	P61244	Pull Down	25609649
Intra	MECP2	P51608	SUMO1	Homo sapiens	P63165	Anti Bait CoIP	37261502
Cross	MECP2	P51608	Tbl1x	Mus musculus	Q9QXE7	Anti Tag CoIP	23770565
Cross	MECP2	P51608	Tbl1x	Mus musculus	Q9QXE7	Pull Down	23770565

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant MECP2 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P70366	MeCP2 Protein, Human (HEK293, His)	P51608-1 (M1-S486)	≥95%

Related Diseases

Diseases

Alias

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

Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations

Severe Congenital Encephalopathy Due To Mecp2 Mutation	Severe Neonatal-Onset Encephalopathy With Microcephaly
Encephalopathy, Neonatal Severe	Neonatal Severe Encephalopathy Due To Mecp2 Mutations
Mecp2-Related Severe Neonatal Encephalopathy	Methyl-Cytosine Phosphate Guanine Binding Protein 2 Related Severe Neonatal Encephalopathy
Severe Neonatal Encephalopathy Due To Mecp2 Mutations	ENS-MECP2
Encephalopathy, Neonatal, Severe

Intellectual Developmental Disorder, X-Linked, Syndromic 13

Mental Retardation, X-Linked, Syndromic 13	MRXS13
Mental Retardation, X-Linked 79	Mrx79
Mental Retardation, X-Linked 16	Mrx16
Mental Retardation With Psychosis, Pyramidal Signs, And Macroorchidism	Ppmx
Mental Retardation, X-Linked, With Spasticity	Intellectual Developmental Disorder, X-Linked Syndromic 13
Mrxppm	Mental Retardation, X-Linked, Syndromic, Type 13
Ppm-X Syndrome

Autism X-Linked 3

Autism, Susceptibility To, X-Linked 3	AUTSX3
Autism Susceptibility, X-Linked 3	Autism, X-Linked 3
Autism, Susceptibility To, X-Linked, Type 3

Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type

Mecp2 Duplication Syndrome	Lubs X-Linked Mental Retardation Syndrome
MRXSL	Trisomy Xq28
Mental Retardation, X-Linked, With Recurrent Respiratory Infections	Proximal Xq28 Duplication Syndrome
Intellectual Developmental Disorder, X-Linked Syndromic, Lubs Type	Lubs X-Linked Intellectual Disability Syndrome
Intellectual Disability, X-Linked, Lubs Type	Xlmr Syndrome, Lubs Type
X-Linked Intellectual Disability Syndrome, Lubs Type

X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome

Mrxs13	Lindsay-Burn Syndrome
Ppm-X	Ppm-X Syndrome
Mental Retardation With Psychosis, Pyramidal Signs, And Macroorchidism	Mental Retardation, X-Linked, Syndromic 13
X-Linked Mental Retardation 79	X-Linked Mental Retardation With Spasticity
Intellectual Deficit, X-Linked - Psychosis - Macroorchidism	Intellectual Disability Psychosis Macroorchidism
Intellectual Disability With Psychosis, Pyramidal Signs, And Macroorchidism	Intellectual Disability, X-Linked, Syndromic 13
Ppmx	X-Linked Mental Retardation, Syndromic 13

Non-Syndromic X-Linked Intellectual Disability

X-Linked Non-Syndromic Intellectual Disability	Non-Specific X-Linked Mental Retardation
X-Linked Non-Specific Intellectual Disability

Syndromic X-Linked Intellectual Disability Lubs Type

Lubs X-Linked Mental Retardation Syndrome	Mecp2 Duplication Syndrome
Mental Retardation, X-Linked, Syndromic, Lubs Type	Mental Retardation, X-Linked, With Recurrent Respiratory Infections
Mrxsl	X-Linked Intellectual Disability-Hypotonia-Recurrent Infections Syndrome
Mental Retardation, X-Linked Syndromic, Lubs Type

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

Angelman Syndrome

AS	Happy Puppet Syndrome
Happy Puppet Syndrome, Formerly	Puppetlike Syndrome

Attention Deficit-Hyperactivity Disorder

Attention Deficit Hyperactivity Disorder	ADHD
Attention Deficit Disorder	Attention Deficit-Hyperactivity Disorder, Susceptibility To
Attention Deficit Disorder With Hyperactivity	Hyperkinetic Disorder
Hyperactivity Of Childhood	Attention-Deficit/Hyperactivity Disorder
Add	Addh
Attention Deficit	Attention Deficit Disorder Of Childhood With Hyperactivity
Attention Deficit Disorder With Hyperactivity Syndrome	Hyperkinetic Syndrome
Attention-Deficit Hyperactivity Disorder	Attention-Deficit/Hyperactivity Disorder, Predominantly Inattentive Type
Disturbance Of Activity And Attention	Disorder Of Activity And Attention
Adhd - [Attention Deficit Hyperactivity Disorder]	Hyperkinetic Disorders
Disorder Of Activity And Attention With Hyperkinesia	Attention Deficit Syndrome With Hyperactivity

Motor Stereotypies

Motor Stereotypy

Nervous System Disease

Abnormality Of The Nervous System	Nervous System Diseases
Nervous System Disorder

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

Pervasive Developmental Disorder

Pervasive Development Disorder	Pervasive Developmental Disorders
Pervasive Child Development Disorders	Autistic Behavior
Autism Spectrum Disorders

Facial Hypertrichosis

Laryngomalacia

Congenital Laryngomalacia	Congenital Laryngeal Stridor
Laryngomalacia Congenital	Floppy Epiglottis

Learning Disability

Learning Disabilities	Learning Disorders
Academic Skill Disorder	Learning Disorder

Sick Sinus Syndrome

Sinus Node Dysfunction	Sinus Node Disease
Sinus Node Infection	Snd
Sss	Snd - [Sinus Node Dysfunction]
Sinoatrial Node Dysfunction	Sss - [Sick Sinus Syndrome]
Sick Sinus	Sick Sinus Tachycardia

Focal Epilepsy

Partial Epilepsy	Epilepsies, Partial
Localisation-Related Epilepsy

Fragile X Syndrome

FXS	Martin-Bell Syndrome
Fraxa Syndrome	Marker X Syndrome
X-Linked Mental Retardation And Macroorchidism	Fragile X Mental Retardation Syndrome
Fra Syndrome	Mental Retardation, X-Linked, Associated With Marxq28
X-Linked Intellectual Disability And Macroorchidism	Frax Syndrome
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Fragile-X Syndrome
Fraxe 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

Gene Duplication Disease

Gene Duplication Syndrome

Dystonia

Dystonic Disease	Dystonic Disorder
Dystonia Disorders	Neuroleptic Dyskinesia

Gait Apraxia

Childhood Disintegrative Disease

Childhood Disintegrative Disorder	Disintegrative Psychosis
Heller'S Syndrome	Symbiotic Psychosis
Dementia Infantilis	Heller Syndrome
Shared Paranoid Disorder

Microcephaly

Microencephaly	Microcephalus
Microcephalic	Nanocephaly
Congenital Microcephaly	Brain Hypoplasia
Brain Nondevelopment	Cephalic Hypoplasia
Undeveloped Cerebrum	Undeveloped Brain
Micrencephalon	Micrencephaly

Asperger Syndrome

Asperger Disorder

Asperger Syndrome, Susceptibility To

Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome

Icf Syndrome	Immunodeficiency Syndrome, Variable
Ciid	Centromeric Instability, Immunodeficiency Syndrome
Immune Deficiency, Variable, With Centromeric Instability Of Chromosomes 1, 9, And 16	Icf

Autism

Autistic Disorder	Autism Susceptibility 1
Childhood Autism	Autistic Disorder Of Childhood Onset
Infantile Autism	Kanner'S Syndrome
Autistic

Kbg Syndrome

KBGS	Macrodontia, Mental Retardation, Characteristic Facies, Short Stature, And Skeletal Anomalies
Short Stature, Characteristic Facies, Macrodontia, Intellectual Disability, And Skeletal Anomalies	Short Stature, Characteristic Facies, Macrodontia, Mental Retardation, And Skeletal Anomalies
Short Stature-Characteristic Facies-Mental Retardation-Macrodontia-Skeletal Anomalies Syndrome	Short Stature-Facial And Skeletal Anomalies-Intellectual Disability-Macrodontia Syndrome

Speech And Communication Disorders

Language Disorder	Communication Disorder
Language Disorders	Communication Disorders
Speech Language Disorder	Speech-Language Disorder
Communication Impairment	Speech And Language Disorder

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

Spasticity

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

Hypertelorism

Eyes Wide Apart	Eyes Widely Set
Hypertelorism Of Orbit	Ocular Hypertelorism
Orbital Separation Excessive

Echolalia

Systemic Lupus Erythematosus

Lupus Nephritis	SLE
Disseminated Lupus Erythematosus	Systemic Lupus Erythematosus, Susceptibility To
Lupus Erythematosus, Systemic	Lupus Nephritis, Susceptibility To
Libman-Sacks Disease	Systemic Lupus Erythematosus Susceptibility To
Sle - Lupus Erythematosus, Systemic	Le Syndrome
Lupus	Lupus Erythematosus Systemic
Lupus Erythematosus, Systemic, Susceptibility To	Lupus Vulgaris
Lupus Erythematosus, Discoid	Lupus Erythematosus
Systemic Lupus Erythematosus Nos	Sle - [Systemic Lupus Erythematosus]

Neurodegeneration With Brain Iron Accumulation

Nbia	Neurodegeneration With Brain Iron Accumulation Disorders
Neurodegeneration, With Brain Iron Accumulation

Meningoencephalitis

Acquired Toxoplasmal Meningoencephalitis	Meningoencephalitis Due To Acquired Toxoplasmosis
Meningoencephalitis Due To Toxoplasmosis	Toxoplasma Meningoencephalitis

Hypogonadotropic Hypogonadism

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

Alcohol-Related Neurodevelopmental Disorder

Static Encephalopathy	Arnd
Encephalopathy, Static	Alcohol Related Neurodevelopmental Disorder

Gastroesophageal Reflux

Gastroesophageal Reflux Disease	Gerd
GER	Gastroesophageal Reflux, Pediatric
Acid Reflux	Gastresophageal Reflux
Gastro-Esophageal Reflux	Gerd - Gastro-Esophageal Reflux Disease

Specific Developmental Disorder

Down Syndrome

Trisomy 21	Complete Trisomy 21 Syndrome
Down'S Syndrome	Trisomy 21 Syndrome
Down'S Syndrome - Trisomy 21	Downs Syndrome
G Trisomy	47,Xx,+21
47,Xy,+21	Trisomy G
Down Syndrome, Susceptibility To	Chromosome 21 Trisomy
Trisomy 21 Nos	Abnormal Autosomes 21

Alpha Thalassemia-X-Linked Intellectual Disability Syndrome

Atr-X Syndrome	Atr, Nondeletion Type
Alpha-Thalassemia X-Linked Intellectual Disability Syndrome	Atrx Syndrome
Alpha-Thalassemia/Mental Retardation Syndrome Nondeletion Type	Alpha Thalassemia Intellectual Disability Syndrome, Nondeletion Type, X-Linked
X-Linked Alpha-Thalassemia/Intellectual Disability Syndrome	Xlmr Hypotonic Face Syndrome
Alpha Thalassemia X-Linked Intellectual Disability Syndrome	Alpha Thalassemia X-Linked Mental Retardation Syndrome
Alpha Thalassemia/Mental Retardation, X-Linked	Alpha-Thalassemia X-Linked Mental Retardation Syndrome
Alpha-Thalassemia/Mental Retardation Syndrome, Nondeletion Type	X-Linked Alpha-Thalassemia/Mental Retardation Syndrome
Xlmr-Hypotonic Face Syndrome	Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Alpha-Thalassemia/Mental Retardation Syndrome, Nondeletion Type, X-Linked

Hypotonia

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

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

Scoliosis

Atypical Autism

Pdd

Chromosome 16p13.3 Deletion Syndrome, Proximal

Rubinstein-Taybi Syndrome	Broad Thumb-Hallux Syndrome
Chromosome 16p13.3 Deletion Syndrome	Rubinstein-Taybi Syndrome Due To 16p13.3 Microdeletion
Rubinstein Syndrome	Broad Thumbs-Halluces Syndrome
Rsts	Rubinstein-Taybi Deletion Syndrome
Rsts Deletion Syndrome	Proximal Chromosome 16p13.3 Deletion Syndrome
16p13.3 Deletion Syndrome	Broad Thumbs And Great Toes, Characteristic Facies, And Intellectual Disability
Rts

Fetal Alcohol Spectrum Disorder

Fetal Alcohol Spectrum Disorders

Fetal Alcohol Syndrome

Kleefstra Syndrome

9q34.3 Microdeletion Syndrome	9q Subtelomeric Deletion Syndrome
9q- Syndrome	Chromosome 9q Deletion Syndrome
9q34.3 Deletion Syndrome	9qstds
Chromosome 9q34.3 Deletion Syndrome	Chromosome 9, Trisomy 9q

Developmental And Epileptic Encephalopathy 17

DEE17	Epileptic Encephalopathy, Early Infantile, 17
Eiee17	Developmental And Epileptic Encephalopathy, 17
Early Infantile Epileptic Encephalopathy 17	Developmental And Epileptic Encephalopathy, Type 17

Autism Spectrum Disorder

Asd	Autism Spectrum Disorders
Autistic Continuum	Pervasive Developmental Disorder
Pervasive Development Disorder	Autistic Behavior
Autistic Disorder	Autistic
Autistic Disorder Of Childhood Onset	Infantile Autism
Childhood Autism	Kanner Syndrome
Pervasive Developmental Delay Nos	Pervasive Developmental Disorder, Not Otherwise Specified

Coffin-Siris Syndrome 1

Coffin-Siris Syndrome	Fifth Digit Syndrome
Css	CSS1
Mrd12	Mental Retardation, Autosomal Dominant 12
Hhid	Dwarfism-Onychodysplasia
Hypertrichosis, Hyperkeratosis, Mental Retardation, And Distinctive Facial Features	Autosomal Dominant Mental Retardation 12
Short Stature-Onychodysplasia.	Intellectual Disability With Absent Fifth Fingernail And Terminal Phalanx
Mental Retardation With Hypoplastic Fifth Fingernails And Toenails	Short Stature-Onychodysplasia
Coffin-Siris Syndrome, Type 1	Mental Retardation, Autosomal Dominant, Type 12

Prader-Willi Syndrome

Prader-Labhart-Willi Syndrome	PWS
Willi-Prader Syndrome	Prader-Willi Syndrome Due To Translocation
Prader-Willi Syndrome Due To Imprinting Mutation	Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Prader Willi Syndrome	Upd(15)Mat

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

Disease Of Mental Health

Mental Health

Mental Disorders

X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome

Mental Retardation, X-Linked, Syndromic 32

Mrxs32

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

Phelan-Mcdermid Syndrome

Chromosome 22q13.3 Deletion Syndrome	22q13.3 Deletion Syndrome
Telomeric 22q13 Monosomy Syndrome	PHMDS
Deletion 22q13 Syndrome	22q13.3 Deletion
Deletion 22q13.3 Syndrome	Monosomy 22q13
Monosomy 22q13.3	22q13 Deletion Syndrome
Monosomy 22q13 Syndrome	22q13 Deletion
Chromosome Deletion

Chromosomal Duplication 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

Otopalatodigital Syndrome, Type I

Otopalatodigital Syndrome Type 1	Taybi Syndrome
OPD1	Opd Syndrome 1
Oto-Palato-Digital Syndrome Type 1	Opd I Syndrome
Oto-Palato-Digital Syndrome, Type I	Otopalatodigital Syndrome Type I
Opd Syndrome	Cranioorodigital Syndrome
Faciopalatoosseous Syndrome	Fpo
Opd Syndrome, Type 1	Otopalatodigital Syndrome 1

Sudden Infant Death Syndrome

SIDS	Sudden Infant Death Syndrome, Susceptibility To
Cot Death	Crib Death
Sudden Death Of Nonspecific Cause In Infancy	Sudden Infant Death
Death, Sudden, Syndrome, Infant

Coffin-Lowry Syndrome

CLS	Coffin Syndrome 1
Coffin Syndrome	Intellectual Disability With Osteocartilaginous Abnormalities
Dwarfism, Lean Spastic Type	Lean Spastic Dwarfism
Mental Retardation With Osteocartilaginous Abnormalities	Coffin Lowry Syndrome

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

Anxiety

Anxiety Disorder	Anxiety Disorders
Anxiety State	Anxieties
Anxiety Neurosis

Timothy Syndrome

Long Qt Syndrome With Syndactyly	TS
Lqt8	Long Qt Syndrome 8
Long Qt Syndrome Type 8	Long Qt Syndrome-Syndactyly Syndrome

Potocki-Lupski Syndrome

PTLS	Chromosome 17p11.2 Duplication Syndrome
17p11.2 Microduplication Syndrome	Duplication 17p11.2 Syndrome
Trisomy 17p11.2	Potocki-Lupski Syndrome (Dup(17)(P11.2p11.2))
17p11.2 Duplication Syndrome	Dup(17)(P11.2p11.2)
Pls	Chromosome 17, Trisomy 17p11 2

Developmental And Epileptic Encephalopathy 47

DEE47	Epileptic Encephalopathy, Early Infantile, 47
Eiee47	Developmental And Epileptic Encephalopathy, 47
Early Infantile Epileptic Encephalopathy 47

Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant

Autosomal Dominant Cerebellar Ataxia, Deafness And Narcolepsy	ADCADN
Autosomal Dominant Cerebellar Ataxia, Deafness, And Narcolepsy	Adca-Dn Syndrome
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome	Adca-Dn
Autosomal Dominant Cerebellar Ataxia-Hearing Loss-Narcolepsy Syndrome	Ataxia, Cerebellar, Deafness, And Narcolepsy, Autosomal Dominant

Chromosomal Disease

Chromosomal Disorders

Congenital Chromosomal Disease

Bone Structure Disease

Syndromic X-Linked Intellectual Disability

X-Linked Syndromic Intellectual Disability

Valproate Embryopathy

Fetal Valproate Syndrome	Fetal Valproic Acid Syndrome
Fvs	Valproic Acid Embryopathy
Fetal Valproate Spectrum Disorder	Valproate Embryopathy, Susceptibility To
Foetal Valproate Syndrome	Foetal Valproic Acid Syndrome
Susceptibility To Valproate Embryopathy	Valproic Acid Antenatal Infection

Chromosomal Deletion Syndrome

Pelizaeus-Merzbacher Disease

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

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

Fetal Alcohol Syndrome

Fetal Alcohol Spectrum Disorders	Arbd
Arnd	Alcohol-Related Birth Defects
Alcohol-Related Neurodevelopmental Disorder	Fas
Fasd	Fetus Or Newborn Affected By Alcohol Transmitted Via Placenta Or Breast Milk
Alcohol Related Birth Defect	Alcohol Related Neurodevelopmental Disorder
Alcohol Affecting Fetus Or Newborn Via Placenta Or Breast Milk	Fetus Or Newborn Affected By Alcohol Transmitted Via Placenta And/Or Breast Milk
Dysmorphism Due To Alcohol	Fetal Etoh Syndrome

Cowden Syndrome 1

Bannayan-Riley-Ruvalcaba Syndrome	Pten Hamartoma Tumor Syndrome
Lhermitte-Duclos Disease	Bannayan-Zonana Syndrome
Phts	Riley-Smith Syndrome
Bzs	Ruvalcaba-Myhre-Smith Syndrome
Multiple Hamartoma Syndrome	Rmss
Brrs	Dysplastic Gangliocytoma Of The Cerebellum
CWS1	Cs
Cd	Mham
Pten Hamartoma Tumor Syndrome With Granular Cell Tumor	Macrocephaly Multiple Lipomas And Hemangiomata
Bannayan-Ruvalcaba-Riley Syndrome	Myhre-Riley-Smith Syndrome
LDD	Cerebelloparenchymal Disorder Vi
Hamartoma Syndrome, Multiple	Bbrs
Macrocephaly, Pseudopapilledema, And Multiple Hemangiomata	Macrocephaly, Multiple Lipomas, And Hemangiomata
Macrocephaly Pseudopapilledema And Multiple Hemangiomas	Ruvalcaba -Myhre-Smith Syndrome
Ruvalcaba-Myhre Syndrome	Cowden Disease
Macrocephaly Pseudopapilledema And Multiple Hemangiomata	Cerebellar Granule Cell Hypertrophy And Megalencephaly
Cpd6	Pten Hamartoma Tumor Syndromes
Cowden Syndrome, Type 1

Hyperoxaluria, Primary, Type I

Primary Hyperoxaluria Type 1	HP1
Glycolic Aciduria	Alanine-Glyoxylate Aminotransferase Deficiency
Hepatic Agt Deficiency	Oxalosis I
Primary Hyperoxaluria, Type I	Serine:Pyruvate Aminotransferase Deficiency
Hyperoxaluria, Primary, Type 1	Peroxisomal Alanine-Glyoxylate Aminotransferase Deficiency
Peroxisomal Alanine Glyoxylate Aminotransferase Deficiency	Serine Pyruvate Aminotransferase Deficiency
Peroxisomal Alanine:Glyoxylate Aminotransferase Deficiency	Oxalosis 1
Hyperoxaluria Primary 1	Hyperoxaluria Primary Type I
Ph1	Primary Hyperoxaluria Type I
Oxalosis Type 1	2-Oxoglutarate Glyoxylate Carboligase Deficiency

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

Schizophrenia

SCZD	Schizophrenia With Or Without An Affective Disorder
Schizophrenia 12	Schizophrenia, Susceptibility To
Schizophrenia-1	Dementia Praecox
Schizophrenia 1

Syndromic Intellectual Disability

Sotos Syndrome

Cerebral Gigantism	SOTOS
Chromosome 5q35 Deletion Syndrome	Sotos Syndrome 1, Formerly
Sotos1, Formerly	Distinctive Facial Appearance, Overgrowth In Childhood, And Learning Disabilities Or Delayed Development
Sotos Sequence	Sotos' Syndrome
Sotos1	Sotos Syndrome 1

Primary Hyperoxaluria

Hyperoxaluria	Hyperoxaluria, Primary
Oxalosis	Primary Oxalosis
Congenital Oxaluria	D-Glycerate Dehydrogenase Deficiency
Glyceric Aciduria	Glycolic Aciduria
Hepatic Agt Deficiency	Oxaluria, Primary
Peroxisomal Alanine:Glyoxylate Aminotransferase Deficiency	Primary Oxaluria
Hyperoxaluria Primary	Primary Hyperoxaluria Type 2
Primary Hyperoxaluria, Type I

Kleefstra Syndrome 1

9q Subtelomeric Deletion Syndrome	KLEFS1
Chromosome 9q34.3 Deletion Syndrome	9q- Syndrome
9q34 Deletion Syndrome	Kleefstra Syndrome Due To 9q34 Microdeletion
Kleefstra Syndrome	9q-Syndrome
9qstds	Kleefstra Syndrome Due To 9q Subtelomeric Deletion
Kleefstra Syndrome Due To Del(9)(Q34)	Kleefstra Syndrome Due To Monosomy 9q34
Chromosome 9q Subtelomeric Deletion Syndrome	Kleefstra Syndrome, Type 1

Alpha-Thalassemia

Alpha Thalassemia	Alpha Thalassaemia
Alpha Plus Thalassemia	Thalassemia, Alpha-
Thalassemias, Alpha-	A-Thalassemia
Α-Thalassemia	A-THAL
Thalassemia	Alpha Thalassaemia Syndrome

Opitz-Kaveggia Syndrome

Fg Syndrome	Fgs1
Fgs	Keller Syndrome
OKS	Fg Syndrome 1
Fg Syndrome Type 1	Mental Retardation, Large Head, Imperforate Anus, Congenital Hypotonia, And Partial Agenesis Of Corpus Callosum
Intellectual Disability, Large Head, Imperforate Anus, Congenital Hypotonia, And Partial Agenesis Of Corpus Callosum	Mental Retardation, Large Head, Imperforate Anus, Congenital Hypotonia, And Partial Agenesis Of The Corpus Callosum

Atrial Septal Defect 8

ASD8	Atrial Heart Septal Defect 8
Septal Defect, Atrial, Type 8

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

Megalencephalic Leukoencephalopathy With Subcortical Cysts 2a

MLC2A	Leukoencephalopathy, Megalencephalic, With Subcortical Cysts, 2a
Leukoencephalopathy, Megalencephalic, With Subcortical Cysts, Type 2a

Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities

MRD30	Mental Retardation, Autosomal Dominant 30
Intellectual Developmental Disorder, Autosomal Dominant 30	Autosomal Dominant Non-Syndromic Intellectual Disability 30
Autosomal Dominant Intellectual Developmental Disorder 30	Autosomal Dominant Mental Retardation 30
Mental Retardation, Autosomal Dominant, Type 30

Myopathy

Muscular Diseases

Myopathies

Noonan Syndrome 1

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

Lennox-Gastaut Syndrome

Lennox Syndrome	Encephalopathy Of Childhood
Epileptic Encephalopathy Lennox-Gastaut Type	Childhood Epileptic Encephalopathy With Diffuse Slow Spikes And Waves
Lgs

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

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

Syndromic X-Linked Intellectual Disability Type 10

Hsd10 Deficiency, Atypical Type	Hsd10 Disease, Atypical Type
X-Linked Intellectual Disability-Choreoathetosis-Abnormal Behavior Syndrome	Mrxs10
Mental Retardation, X-Linked, Syndromic 10

Psychotic Disorder

Psychotic Disorders	Mental Or Behavioural Disorder
Psychotic	Mental Disorders

Hypomyelinating Leukodystrophy

Hld	Leukodystrophy, Hypomyelinating

Speech Disorder

Speech Disorders

Congenital Central Hypoventilation Syndrome

Cchs	Haddad Syndrome
Ondine Curse	Ondine Syndrome
Congenital Central Hypoventilation	Congenital Central Alveolar Hypoventilation Syndrome
Congenital Failure Of Autonomic Control	Ondine'S Curse
Primary Alveolar Hypoventilation	Ondine-Hirschsprung Disease
Central Congenital Hypoventilation Syndrome	Congenital Ondine Curse
Idiopathic Congenital Central Alveolar Hypoventilation	Congenital Central Alveolar Hypoventilation-Hirschsprung Disease Syndrome
Ondine-Hirschsprung Syndrome

Velocardiofacial Syndrome

Shprintzen Syndrome	VCFS
Chromosome 22q11.2 Deletion Syndrome	Vcf Syndrome
Shprintzen Vcf Syndrome	Vcf-Velocardiofacial Syndrome
Velo-Cardio-Facial Syndrome	Digeorge Syndrome
22q11 Deletion Syndrome	Conotruncal Anomaly Face Syndrome

Cornelia De Lange Syndrome

De Lange Syndrome	Brachmann De Lange Syndrome
Brachmann-De Lange Syndrome	Cdls
Bdls	Typus Degenerativus Amstelodamensis

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

Developmental And Epileptic Encephalopathy

Encephalopathy, Developmental And Epileptic

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

Childhood Absence Epilepsy

Pyknolepsy	Petit Mal Epilepsy
Absence Seizures	Absence Seizure
Petit Mal Seizure	Absence Epilepsy, Childhood
Pykno-Epilepsy	Epilepsy, Absence
Absence Epilepsy	Pycnolepsy

Chromosome 1p36 Deletion Syndrome

1p36 Deletion Syndrome	Deletion 1p36
Monosomy 1p36	Subtelomeric 1p36 Deletion
Monosomy 1p36 Syndrome	Distal Monosomy 1p36
Del(1)(P36)	Deletion 1pter
Monosomy 1pter

Rasopathy

Ras/Mitogen-Activated Protein Kinase Syndrome

Beckwith-Wiedemann Syndrome

Wiedemann-Beckwith Syndrome	BWS
Exomphalos-Macroglossia-Gigantism Syndrome	Emg Syndrome
Beckwith-Wiedemann Syndrome Due To Cdkn1c Mutation	Emg Abnormality
Wbs	Exomphalos Macroglossia Gigantism Syndrome
Beckwith-Wiedemann Syndrome Due To Nsd1 Mutation	Macroglossia Exomphalos Gigantism

Chromosome 22q11.2 Deletion Syndrome, Distal

22q11.2 Deletion Syndrome	Autosomal Dominant Opitz G/Bbb Syndrome
Catch22	Cayler Cardiofacial Syndrome
Conotruncal Anomaly Face Syndrome	Digeorge Syndrome
Sedlackova Syndrome	Shprintzen Syndrome
Velocardiofacial Syndrome	22q11.2 Distal Deletion Syndrome
Distal 22q11.2 Microdeletion Syndrome	22q11.2ds
Vcfs	Velo-Cardio-Facial Syndrome
Distal Chromosome 22q11.2 Deletion Syndrome	Chromosome 22q11.2 Deletion Syndrome Distal
Chromosome 22q11.2 Deletion Syndrome	Deletion 22q11.2 Syndrome
22q11ds	Catch 22
Digeorge Sequence	Microdeletion 22q11.2
Monosomy 22q11	Takao Syndrome
Distal Del(22)(Q11.2)	Distal Monosomy 22q11.2
Catch 22 Syndrome	Chromosome Deletion Syndrome 22q11.2, Distal

Strabismus

Strabismus, Susceptibility To	Strabismus, Susceptibility To, 1
Strabismus 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

Hirschsprung Disease 1

Hirschsprung Disease	Aganglionic Megacolon
Hscr	Hirschsprung'S Disease
Congenital Megacolon	Congenital Intestinal Aganglionosis
Colonic Aganglionosis	Hirschsprung Disease, Susceptibility To, 1
Hirschsprung Disease, Protection Against	HSCR1
Mgc	Pelvirectal Achalasia
Total Intestinal Aganglionosis	Megacolon, Aganglionic
Macrocolon	Hscr 1
Hirschsprung Disease Type 1	Hirschsprung Disease, Type 1
Congenital Dilatation Of Colon	Aganglionosis
Congenital Aganglionic Megacolon	Aganglionosis Of Colon
Bowel Aganglionosis	Colon Aganglionosis
Hirschsprung Megacolon

Amyotrophic Lateral Sclerosis 1

Amyotrophic Lateral Sclerosis	ALS
Lou Gehrig Disease	Amyotrophic Lateral Sclerosis Type 1
Charcot Disease	ALS1
Amyotrophic Lateral Sclerosis, Susceptibility To	Fals
Lou Gehrig'S Disease	Mnd
Motor Neuron Disease	Familial Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 1, Familial	Amyotrophic Lateral Sclerosis 1, Autosomal Dominant
Motor Neuron Disease, Bulbar	Motor Neurone Disease
Amyotrophic Lateral Sclerosis With Dementia	Dementia With Amyotrophic Lateral Sclerosis
Motor Neuron Disease, Amyotrophic Lateral Sclerosis	Sclerosis, Lateral, Amyotrophic
Sclerosis, Lateral, Amyotrophic, Type 1	Amyotrophic Sclerosis
Als - [Amyotrophic Lateral Sclerosis]	Wasting Palsy
Amyotrophic Paralysis	Amyotrophy Lateral Sclerosis
Wasting Paralysis	Spinal Progressive Amyotrophy
Progressive Atrophic Paralysis

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

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS08276	MECP2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	MECP2	VGNC	VGNC:68228
Mus musculus	MECP2	MGD	MGI:99918
Bos taurus	MECP2	VGNC	VGNC:31344
Macaca mulatta	MECP2	VGNC	VGNC:74697
Canis familiaris	MECP2	VGNC	VGNC:43115
Rattus norvegicus	MECP2	RGD	RGD:3075
Others	MECP2	NCBI