EP300 (E1A binding protein p300) - Rat Genome Database

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Gene: EP300 (E1A binding protein p300) Homo sapiens
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Symbol: EP300
Name: E1A binding protein p300
RGD ID: 1348463
HGNC Page HGNC
Description: Enables several functions, including N-acyltransferase activity; RNA polymerase II-specific DNA-binding transcription factor binding activity; and beta-catenin binding activity. Involved in several processes, including protein acylation; regulation of nucleobase-containing compound metabolic process; and regulation of signal transduction. Located in cytosol and nucleoplasm. Implicated in Rubinstein-Taybi syndrome; colorectal cancer; and congestive heart failure. Biomarker of several diseases, including Alzheimer's disease; breast carcinoma; cardiac arrest; clear cell renal cell carcinoma; and prostate cancer.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: E1A-associated protein p300; E1A-binding protein, 300kD; histone acetyltransferase p300; histone butyryltransferase p300; histone crotonyltransferase p300; KAT3B; MKHK2; p300; p300 HAT; RSTS2
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2241,092,592 - 41,180,077 (+)EnsemblGRCh38hg38GRCh38
GRCh382241,092,592 - 41,180,077 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh372241,488,596 - 41,576,081 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362239,818,553 - 39,906,024 (+)NCBINCBI36hg18NCBI36
Build 342239,813,106 - 39,900,578NCBI
Celera2225,294,977 - 25,382,428 (+)NCBI
Cytogenetic Map22q13.2NCBI
HuRef2224,453,007 - 24,540,433 (+)NCBIHuRef
CHM1_12241,448,337 - 41,535,740 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
adenoid cystic carcinoma  (EXP)
Agenesis of Corpus Callosum  (IAGP)
Alzheimer's disease  (IEP)
Brain Hypoxia  (ISO)
breast carcinoma  (IEP)
Breast Neoplasms  (EXP)
cardiac arrest  (IEP)
Cardiomegaly  (ISO)
cardiomyopathy  (IEP)
CHARGE syndrome  (IAGP)
clear cell renal cell carcinoma  (IEP)
colon carcinoma  (IAGP)
colorectal cancer  (IAGP)
Colorectal Neoplasms  (EXP)
congenital diaphragmatic hernia  (ISO)
congestive heart failure  (IMP)
Craniofacial Abnormalities  (EXP)
Diabetic Nephropathies  (ISO)
diabetic retinopathy  (ISO)
Dwarfism  (IAGP)
Endometrial Neoplasms  (EXP)
Endotoxemia  (ISO)
esophageal carcinoma  (IAGP)
esophagus squamous cell carcinoma  (EXP)
Experimental Diabetes Mellitus  (ISO)
genetic disease  (IAGP)
glomerulonephritis  (IEP)
head and neck squamous cell carcinoma  (IAGP)
heart disease  (ISO)
hepatocellular carcinoma  (ISO)
hereditary breast ovarian cancer syndrome  (IAGP)
Huntington's disease  (ISO)
Hyperalgesia  (ISO)
hypertension  (ISO)
intellectual disability  (IAGP)
Kidney Reperfusion Injury  (ISO)
Lead Poisoning, Nervous System  (ISO)
lung adenocarcinoma  (EXP)
lung small cell carcinoma  (EXP)
lung squamous cell carcinoma  (IAGP)
medulloblastoma  (IAGP)
melanoma  (EXP)
membranoproliferative glomerulonephritis  (ISO)
Menke-Hennekam Syndrome 2  (IAGP)
microcephaly  (IAGP)
Multicystic Dysplastic Kidney  (IAGP)
Multiple Abnormalities  (IAGP)
nephronophthisis-like nephropathy 1  (IAGP)
Neurodevelopmental Disorders  (IAGP)
obesity  (EXP)
Optic Nerve Injuries  (IMP,ISO)
Painful Neuropathy  (ISO)
prostate cancer  (IEP)
Reperfusion Injury  (ISO)
Rubinstein-Taybi syndrome  (IAGP)
Sepsis  (ISO)
squamous cell carcinoma  (EXP)
Stevens-Johnson syndrome  (EXP)
systemic lupus erythematosus  (ISS)
T-Cell Lymphoma  (EXP)
Thumb Deformity  (IAGP)
transient cerebral ischemia  (ISO)
transitional cell carcinoma  (EXP,IAGP)
type 2 diabetes mellitus  (ISO)
urinary bladder cancer  (EXP)
Uterine Cervical Neoplasms  (IAGP)

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1-(5-isoquinolinesulfonyl)-2-methylpiperazine  (ISO)
11-deoxycorticosterone  (ISO)
17beta-estradiol  (EXP)
17beta-hydroxy-17-methylestra-4,9,11-trien-3-one  (EXP)
17beta-hydroxy-5alpha-androstan-3-one  (EXP)
2,3,4,7,8-Pentachlorodibenzofuran  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,3,7,8-Tetrachlorodibenzofuran  (EXP)
2,4-dinitrotoluene  (ISO)
2-Hydroxy-6-(8,11,14-pentadecatrienyl)benzoic acid  (EXP,ISO)
2-hydroxypropanoic acid  (EXP)
3-aminobenzamide  (ISO)
5-(2-chloroethyl)-4-methylthiazole  (ISO)
5-(2-methylpiperazine-1-sulfonyl)isoquinoline  (ISO)
5-aza-2'-deoxycytidine  (EXP,ISO)
5-fluorouracil  (EXP)
5-methoxy-2-\{[(4-methoxy-3,5-dimethylpyridin-2-yl)methyl]sulfinyl\}-1H-benzimidazole  (EXP)
6-chloro-2,3,4,9-tetrahydro-1H-carbazole-1-carboxamide  (ISO)
8-Br-cAMP  (EXP)
aconitine  (EXP)
aldehydo-D-glucose  (EXP)
all-trans-retinoic acid  (EXP,ISO)
all-trans-retinyl palmitate  (ISO)
allethrin  (ISO)
ammonium chloride  (ISO)
amphetamine  (ISO)
amphotericin B  (EXP)
antimycin A  (EXP)
apigenin  (EXP)
apocynin  (EXP)
arsenous acid  (EXP)
azoxystrobin  (EXP)
berberine  (EXP)
bis(2-chloroethyl) sulfide  (ISO)
bisphenol A  (EXP,ISO)
butanal  (EXP)
butyric acid  (EXP)
cadmium atom  (ISO)
calcitriol  (ISO)
camptothecin  (EXP)
carbon nanotube  (ISO)
casticin  (EXP)
chromium atom  (ISO)
chromium(6+)  (ISO)
cilostazol  (ISO)
cisplatin  (EXP,ISO)
clobetasol  (ISO)
cobalt dichloride  (EXP)
copper atom  (EXP,ISO)
copper(0)  (EXP,ISO)
copper(II) sulfate  (EXP)
crocidolite asbestos  (ISO)
curcumin  (EXP,ISO)
cyhalothrin  (ISO)
cypermethrin  (ISO)
cyproconazole  (ISO)
cyproterone acetate  (EXP)
D-glucose  (EXP)
deguelin  (EXP)
deoxynivalenol  (EXP)
dexamethasone  (EXP,ISO)
dextran sulfate  (ISO)
diarsenic trioxide  (EXP)
dibenziodolium  (EXP)
dicrotophos  (EXP)
diethylstilbestrol  (EXP,ISO)
dinophysistoxin 1  (EXP)
dioxygen  (EXP)
disodium selenite  (EXP)
doxorubicin  (EXP,ISO)
ellagic acid  (EXP)
entinostat  (EXP)
enzalutamide  (EXP)
epoxiconazole  (ISO)
ethanol  (ISO)
etoposide  (EXP)
fenpyroximate  (EXP)
fenvalerate  (ISO)
fisetin  (EXP)
flavone  (EXP)
folic acid  (ISO)
furan  (ISO)
galangin  (EXP)
gallic acid  (EXP)
Garcinol  (EXP)
genistein  (EXP)
gentamycin  (ISO)
glucose  (EXP)
glyphosate  (EXP)
gold atom  (EXP)
gold(0)  (EXP)
hyaluronic acid  (EXP)
irinotecan  (EXP)
ivermectin  (EXP)
kaempferol  (EXP)
kojic acid  (EXP)
KT 5720  (ISO)
lead(0)  (ISO)
lead(2+)  (ISO)
LY294002  (ISO)
menadione  (EXP)
miconazole  (ISO)
mifepristone  (ISO)
mono(2-ethylhexyl) phthalate  (EXP)
myricetin  (EXP)
N-acetyl-L-cysteine  (EXP)
N-benzyloxycarbonyl-L-leucyl-L-leucyl-L-leucinal  (EXP,ISO)
niclosamide  (EXP)
nitrofen  (ISO)
ochratoxin A  (EXP)
okadaic acid  (EXP)
omeprazole  (EXP)
oxaliplatin  (ISO)
p-menthan-3-ol  (EXP)
phenylephrine  (EXP,ISO)
phlorizin  (ISO)
phorbol 13-acetate 12-myristate  (EXP)
picoxystrobin  (EXP)
pirinixic acid  (EXP,ISO)
prochloraz  (ISO)
prostaglandin E2  (EXP)
prostaglandin J2  (EXP)
pyrazinecarboxamide  (ISO)
quercetin  (EXP)
rac-lactic acid  (EXP)
resveratrol  (EXP,ISO)
rotenone  (EXP)
SB 203580  (ISO)
scutellarin  (EXP)
Se-methyl-L-selenocysteine  (EXP)
Se-methylselenocysteine  (EXP)
silicon dioxide  (EXP)
sirtinol  (ISO)
sodium arsenite  (EXP,ISO)
sodium fluoride  (ISO)
streptozocin  (ISO)
sulforaphane  (EXP)
sunitinib  (EXP)
superoxide  (EXP)
tamoxifen  (EXP)
tetrathiomolybdate(2-)  (ISO)
titanium dioxide  (ISO)
topotecan  (ISO)
trichostatin A  (EXP,ISO)
tungsten  (ISO)
urethane  (EXP)
ursodeoxycholic acid  (EXP)
valproic acid  (EXP,ISO)
vorinostat  (EXP)
zinc atom  (EXP,ISO)
zinc(0)  (EXP,ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
animal organ morphogenesis  (IEA,ISO)
apoptotic process  (IMP)
B cell differentiation  (IEA,ISO)
behavioral defense response  (IEA)
cellular response to antibiotic  (ISO)
cellular response to cAMP  (ISO)
cellular response to dexamethasone stimulus  (ISO)
cellular response to glucose stimulus  (ISO)
cellular response to hydrogen peroxide  (ISO)
cellular response to mineralocorticoid stimulus  (ISO)
cellular response to nerve growth factor stimulus  (ISO)
cellular response to organic cyclic compound  (ISO)
cellular response to retinoic acid  (ISO)
cellular response to trichostatin A  (ISO)
cellular response to UV  (IDA)
cellular response to xenobiotic stimulus  (ISO)
chromatin organization  (IEA)
circadian rhythm  (ISS)
digestive tract development  (ISO)
epigenetic maintenance of chromatin in transcription-competent conformation  (IDA)
face morphogenesis  (IEA)
fat cell differentiation  (ISS)
heart development  (IEA,ISO)
histone acetylation  (IBA,IDA,IEA,ISO)
histone H2B acetylation  (IDA)
histone H3 acetylation  (ISO)
histone H3-K56 acetylation  (IEA,ISO)
histone H4 acetylation  (IMP)
internal peptidyl-lysine acetylation  (IDA,ISO)
internal protein amino acid acetylation  (IDA)
intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator  (IDA)
learning or memory  (IEA)
lung development  (IEA,ISO)
macrophage derived foam cell differentiation  (IDA)
megakaryocyte development  (IEA,ISO)
memory  (ISO)
multicellular organism growth  (IEA)
N-terminal peptidyl-lysine acetylation  (IDA)
negative regulation of cell death  (ISO)
negative regulation of cysteine-type endopeptidase activity involved in apoptotic process  (ISO)
negative regulation of gluconeogenesis  (IDA)
negative regulation of miRNA metabolic process  (ISO)
negative regulation of protein-containing complex assembly  (IDA)
negative regulation of transcription by RNA polymerase II  (IDA)
nervous system development  (TAS)
peptidyl-lysine acetylation  (IDA,ISO)
peptidyl-lysine butyrylation  (IDA)
peptidyl-lysine crotonylation  (IDA)
peptidyl-lysine propionylation  (IDA)
platelet formation  (IEA,ISO)
positive regulation by host of viral transcription  (IDA)
positive regulation of axon extension  (ISO)
positive regulation of cell death  (ISO)
positive regulation of cell growth  (ISO)
positive regulation of cell growth involved in cardiac muscle cell development  (ISO)
positive regulation of cell size  (ISO)
positive regulation of cellular response to hypoxia  (ISO)
positive regulation of collagen biosynthetic process  (ISO)
positive regulation of DNA binding  (ISO)
positive regulation of DNA-binding transcription factor activity  (IDA,ISO)
positive regulation of gene expression  (ISO)
positive regulation of glycoprotein biosynthetic process  (ISO)
positive regulation of histone acetylation  (ISO)
positive regulation of muscle atrophy  (ISO)
positive regulation of neuron projection development  (IDA)
positive regulation of NF-kappaB transcription factor activity  (IDA)
positive regulation of NIK/NF-kappaB signaling  (IDA)
positive regulation of protein acetylation  (ISO)
positive regulation of protein binding  (IEA,ISO)
positive regulation of protein import into nucleus  (ISO)
positive regulation of protein phosphorylation  (ISO)
positive regulation of protein secretion  (ISO)
positive regulation of proteolysis  (ISO)
positive regulation of RNA polymerase II regulatory region sequence-specific DNA binding  (IDA)
positive regulation of sarcomere organization  (ISO)
positive regulation of transcription by RNA polymerase II  (IBA,IDA,IEA,IMP,ISO)
positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response  (ISS)
positive regulation of transcription, DNA-templated  (IDA,ISO,TAS)
positive regulation of transforming growth factor beta receptor signaling pathway  (IMP)
positive regulation of translation  (ISO)
protein acetylation  (IDA,TAS)
protein destabilization  (IMP)
protein kinase B signaling  (ISO)
protein stabilization  (ISS)
protein-DNA complex assembly  (ISO)
regulation of androgen receptor signaling pathway  (IDA)
regulation of angiotensin metabolic process  (ISO)
regulation of autophagy  (TAS)
regulation of cellular response to heat  (TAS)
regulation of glycolytic process  (IDA)
regulation of mitochondrion organization  (ISS)
regulation of signal transduction by p53 class mediator  (TAS)
regulation of transcription by RNA polymerase II  (ISO)
regulation of transcription, DNA-templated  (IEA)
regulation of tubulin deacetylation  (IDA)
response to calcium ion  (ISO)
response to cobalt ion  (ISO)
response to dexamethasone  (ISO)
response to estrogen  (IDA,ISO)
response to ethanol  (ISO)
response to fatty acid  (ISO)
response to glucose  (ISO)
response to hydrogen peroxide  (ISO)
response to hypoxia  (IDA,ISO)
response to organic cyclic compound  (ISO)
response to retinoic acid  (ISO)
response to tumor necrosis factor  (ISO)
response to xenobiotic stimulus  (ISO)
rhythmic process  (IEA)
skeletal muscle tissue development  (IEA,ISO)
somitogenesis  (IEA,ISO)
stimulatory C-type lectin receptor signaling pathway  (TAS)
swimming  (IEA)
thigmotaxis  (IEA)

Cellular Component

Molecular Function
acetyltransferase activity  (EXP,IDA,IMP)
acyltransferase activity  (IDA)
androgen receptor binding  (IPI)
antigen binding  (ISO)
beta-catenin binding  (IPI)
bHLH transcription factor binding  (ISO)
chromatin binding  (IDA,IMP,ISO)
chromatin DNA binding  (IBA,ISO)
cis-regulatory region sequence-specific DNA binding  (ISO)
damaged DNA binding  (IDA)
DNA binding  (IDA)
DNA-binding transcription factor binding  (IEA,IPI,ISO)
glucocorticoid receptor binding  (ISO)
H3 histone acetyltransferase activity  (IDA)
H4 histone acetyltransferase activity  (IDA)
histone acetyltransferase activity  (IBA,IDA,IEA,ISO,TAS)
histone butyryltransferase activity  (IEA)
histone crotonyltransferase activity  (IDA)
histone lactyltransferase activity  (IDA)
lysine N-acetyltransferase activity, acting on acetyl phosphate as donor  (IDA)
mitogen-activated protein kinase binding  (ISO)
NF-kappaB binding  (IPI,ISO)
nuclear receptor binding  (IPI)
p53 binding  (IEA,ISO)
peptide 2-hydroxyisobutyryltransferase activity  (IEA)
peptide butyryltransferase activity  (IDA)
peptide N-acetyltransferase activity  (TAS)
peptide-lysine-N-acetyltransferase activity  (TAS)
peroxisome proliferator activated receptor binding  (ISO)
pre-mRNA intronic binding  (IEA)
promoter-specific chromatin binding  (ISO)
protein antigen binding  (ISO)
protein binding  (IPI,ISO)
protein C-terminus binding  (IDA)
protein kinase binding  (ISO)
protein propionyltransferase activity  (IDA)
protein-containing complex binding  (ISO)
RNA polymerase II cis-regulatory region sequence-specific DNA binding  (ISO)
RNA polymerase II-specific DNA-binding transcription factor binding  (IPI)
SMAD binding  (ISO)
STAT family protein binding  (IPI)
tau protein binding  (NAS)
transcription coactivator activity  (IBA,IDA,IEA,IMP,IPI,TAS)
transcription coactivator binding  (IPI)
transcription coregulator activity  (IEA)
transcription coregulator binding  (IPI,ISO)
transcription factor binding  (ISO)
zinc ion binding  (IEA)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal cornea morphology  (IAGP)
Abnormal corpus callosum morphology  (IAGP)
Abnormal facial shape  (IAGP)
Abnormal lateral ventricle morphology  (IAGP)
Abnormal number of teeth  (IAGP)
Abnormal posterior cranial fossa morphology  (IAGP)
Abnormal proximal phalanx morphology of the hand  (IAGP)
Abnormal subclavian artery morphology  (IAGP)
Abnormal thumb morphology  (IAGP)
Abnormality of refraction  (IAGP)
Abnormality of the cervical spine  (IAGP)
Abnormality of the curvature of the vertebral column  (IAGP)
Abnormality of the kidney  (IAGP)
Abnormality of the pinna  (IAGP)
Absent earlobe  (IAGP)
Absent speech  (IAGP)
Adducted thumb  (IAGP)
Aganglionic megacolon  (IAGP)
Agenesis of corpus callosum  (IAGP)
Agenesis of permanent teeth  (IAGP)
Aggressive behavior  (IAGP)
Agoraphobia  (IAGP)
Aortic valve stenosis  (IAGP)
Arnold-Chiari type I malformation  (IAGP)
Arrhythmia  (IAGP)
Aspiration  (IAGP)
Asthma  (IAGP)
Atrial septal defect  (IAGP)
Autism  (IAGP)
Autistic behavior  (IAGP)
Autosomal dominant inheritance  (IAGP)
Avascular necrosis of the capital femoral epiphysis  (IAGP)
Bicuspid aortic valve  (IAGP)
Bifid uterus  (IAGP)
Bimanual synkinesia  (IAGP)
Blepharophimosis  (IAGP)
Brain imaging abnormality  (IAGP)
Broad distal phalanx of finger  (IAGP)
Broad hallux  (IAGP)
Broad thumb  (IAGP)
Cafe-au-lait spot  (IAGP)
Capillary hemangioma  (IAGP)
Cardiac conduction abnormality  (IAGP)
Carious teeth  (IAGP)
Cataract  (IAGP)
Cellular immunodeficiency  (IAGP)
Cervical cord compression  (IAGP)
Chorioretinal dystrophy  (IAGP)
Chronic constipation  (IAGP)
Clinodactyly of the 5th finger  (IAGP)
Coarctation of aorta  (IAGP)
Coloboma  (IAGP)
Colon cancer  (IAGP)
Conductive hearing impairment  (IAGP)
Congenital onset  (IAGP)
Constipation  (IAGP)
Convex nasal ridge  (IAGP)
Corneal scarring  (IAGP)
Cryptorchidism  (IAGP)
Cutaneous syndactyly of toes  (IAGP)
Deep philtrum  (IAGP)
Deeply set eye  (IAGP)
Delayed ability to walk  (IAGP)
Delayed cranial suture closure  (IAGP)
Delayed gross motor development  (IAGP)
Delayed myelination  (IAGP)
Delayed skeletal maturation  (IAGP)
Delayed speech and language development  (IAGP)
Dental crowding  (IAGP)
Dental malocclusion  (IAGP)
Depressed nasal bridge  (IAGP)
Deviated nasal septum  (IAGP)
Deviation of the hallux  (IAGP)
Dislocated radial head  (IAGP)
Downslanted palpebral fissures  (IAGP)
Duane anomaly  (IAGP)
Duodenal ulcer  (IAGP)
Duplication of phalanx of hallux  (IAGP)
EEG abnormality  (IAGP)
Emotional lability  (IAGP)
Enamel hypoplasia  (IAGP)
Epicanthus  (IAGP)
Esophageal carcinoma  (IAGP)
Facial grimacing  (IAGP)
Failure to thrive  (IAGP)
Feeding difficulties  (IAGP)
Feeding difficulties in infancy  (IAGP)
Flared iliac wing  (IAGP)
Flat face  (IAGP)
Flexion contracture  (IAGP)
Frontal bossing  (IAGP)
Frontal upsweep of hair  (IAGP)
Full cheeks  (IAGP)
Gastroesophageal reflux  (IAGP)
Generalized hypotonia  (IAGP)
Glaucoma  (IAGP)
Global developmental delay  (IAGP)
Hearing impairment  (IAGP)
Hereditary nonpolyposis colorectal carcinoma  (IAGP)
Heterogeneous  (IAGP)
High axial triradius  (IAGP)
High palate  (IAGP)
Highly arched eyebrow  (IAGP)
Hip dysplasia  (IAGP)
Hirsutism  (IAGP)
Humoral immunodeficiency  (IAGP)
Hydrocele testis  (IAGP)
Hydronephrosis  (IAGP)
Hyperactivity  (IAGP)
Hypermetropia  (IAGP)
Hyperreflexia  (IAGP)
Hypertelorism  (IAGP)
Hypodontia  (IAGP)
Hypoplasia of the maxilla  (IAGP)
Hypoplastic iliac wing  (IAGP)
Hypospadias  (IAGP)
Hypotonia  (IAGP)
Impaired social interactions  (IAGP)
Impulsivity  (IAGP)
Increased overbite  (IAGP)
Intellectual disability  (IAGP)
Intellectual disability, mild  (IAGP)
Intellectual disability, moderate  (IAGP)
Intestinal malrotation  (IAGP)
Intrauterine growth retardation  (IAGP)
Joint hypermobility  (IAGP)
Joint laxity  (IAGP)
Keloids  (IAGP)
Large foramen magnum  (IAGP)
Laryngeal cartilage malformation  (IAGP)
Laryngomalacia  (IAGP)
Leukemia  (IAGP)
Long eyelashes  (IAGP)
Low anterior hairline  (IAGP)
Low hanging columella  (IAGP)
Low posterior hairline  (IAGP)
Low-set ears  (IAGP)
Medulloblastoma  (IAGP)
Meningioma  (IAGP)
Microcephaly  (IAGP)
Micrognathia  (IAGP)
Multicystic kidney dysplasia  (IAGP)
Myopia  (IAGP)
Narrow mouth  (IAGP)
Narrow nasal bridge  (IAGP)
Narrow palate  (IAGP)
Nasogastric tube feeding in infancy  (IAGP)
Nasolacrimal duct obstruction  (IAGP)
Natal tooth  (IAGP)
Neoplasm of the stomach  (IAGP)
Nephrolithiasis  (IAGP)
Nystagmus  (IAGP)
Obesity  (IAGP)
Obsessive-compulsive behavior  (IAGP)
Obstructive sleep apnea  (IAGP)
Otitis media  (IAGP)
Overlapping toe  (IAGP)
Panic attack  (IAGP)
Papillary cystadenoma of the epididymis  (IAGP)
Parietal foramina  (IAGP)
Patellar dislocation  (IAGP)
Patent ductus arteriosus  (IAGP)
Patent foramen ovale  (IAGP)
Pectus excavatum  (IAGP)
Pes planus  (IAGP)
Phonophobia  (IAGP)
Pilomatrixoma  (IAGP)
Plantar crease between first and second toes  (IAGP)
Pneumonia  (IAGP)
Polydactyly  (IAGP)
Polyhydramnios  (IAGP)
Poor coordination  (IAGP)
Posterior helix pit  (IAGP)
Postnatal growth retardation  (IAGP)
Preeclampsia  (IAGP)
Premature thelarche  (IAGP)
Primary microcephaly  (IAGP)
Prominent fingertip pads  (IAGP)
Prominent forehead  (IAGP)
Prominent nasal septum  (IAGP)
Prominent nose  (IAGP)
Proptosis  (IAGP)
Ptosis  (IAGP)
Pulmonic stenosis  (IAGP)
Radial deviation of thumb terminal phalanx  (IAGP)
Recurrent respiratory infections  (IAGP)
Recurrent upper respiratory tract infections  (IAGP)
Recurrent urinary tract infections  (IAGP)
Renal cell carcinoma  (IAGP)
Respiratory distress  (IAGP)
Retrognathia  (IAGP)
Sandal gap  (IAGP)
Scoliosis  (IAGP)
Secondary microcephaly  (IAGP)
Seizure  (IAGP)
Self-injurious behavior  (IAGP)
Self-mutilation  (IAGP)
Sensorineural hearing impairment  (IAGP)
Shawl scrotum  (IAGP)
Short attention span  (IAGP)
Short palpebral fissure  (IAGP)
Short stature  (IAGP)
Short thumb  (IAGP)
Single transverse palmar crease  (IAGP)
Social and occupational deterioration  (IAGP)
Somatic mutation  (IAGP)
Spina bifida occulta  (IAGP)
Sporadic  (IAGP)
Squamous cell lung carcinoma  (IAGP)
Square face  (IAGP)
Stereotypy  (IAGP)
Strabismus  (IAGP)
Supernumerary tooth  (IAGP)
Syndactyly  (IAGP)
Synophrys  (IAGP)
Syringomyelia  (IAGP)
Talon cusp  (IAGP)
Tethered cord  (IAGP)
Thick eyebrow  (IAGP)
Thin upper lip vermilion  (IAGP)
Transitional cell carcinoma of the bladder  (IAGP)
Trichiasis  (IAGP)
Truncal obesity  (IAGP)
Unsteady gait  (IAGP)
Upslanted palpebral fissure  (IAGP)
Uterine leiomyosarcoma  (IAGP)
Variable expressivity  (IAGP)
Vascular ring  (IAGP)
Ventricular septal defect  (IAGP)
Vesicoureteral reflux  (IAGP)
Wide anterior fontanel  (IAGP)
Wide nasal bridge  (IAGP)
Widened distal phalanges  (IAGP)
References

References - curated
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