MECP2 - methyl-CpG binding protein 2 Gene

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

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 4204

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	References	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	References	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	References	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	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
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)	≥ 90%, as determined by reducing SDS-PAGE.

MECP2 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P84372	MECP2 Antibody (YA4069)	WB, IHC-P, ICC/IF, FC, ELISA	Human
HY-P84372A	MECP2 Antibody (YA4069)(PBS only)	WB, IHC-P, ICC/IF, FC, ELISA	Human
HY-P86190	MECP2 Antibody (YA5882)	WB, IHC-P, ICC/IF, IP, ELISA	Human, Mouse, Rat

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

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (4)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS08276	MECP2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-176266	KIT-13	Activator	/	Unkown
HY-RS20053	Mecp2 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS26557	Mecp2 Rat Pre-designed siRNA Set A	Pre-designed Set	/	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