GJA1 (gap junction protein alpha 1) - Rat Genome Database
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Gene: GJA1 (gap junction protein alpha 1) Homo sapiens
Symbol: GJA1
Name: gap junction protein alpha 1
RGD ID: 736925
Description: Exhibits several functions, including alpha-tubulin binding activity; beta-catenin binding activity; and gap junction channel activity. Involved in several processes, including establishment of mitotic spindle orientation; negative regulation of trophoblast cell migration; and positive regulation of cell population proliferation. Localizes to several cellular components, including gap junction; intercalated disc; and tight junction. Implicated in several diseases, including autosomal recessive craniometaphyseal dysplasia; congenital heart disease (multiple); erythrokeratodermia variabilis (multiple); oculodentodigital dysplasia; and palmoplantar keratoderma and congenital alopecia 1. Biomarker of Huntington's disease; atrial fibrillation; cardiomyopathy (multiple); and tetralogy of Fallot.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: AVSD3; CMDR; connexin 43; connexin-43; CX43; DFNB38; EKVP; EKVP3; gap junction 43 kDa heart protein; gap junction alpha-1 protein; gap junction membrane channel protein alpha 1; gap junction protein, alpha 1, 43kDa; gap junction protein, alpha-like; GJAL; HLHS1; HSS; ODDD; PPKCA
RGD Orthologs
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: GJA1P1   GJA6P  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Human AssemblyChrPosition (strand)SourceGenome Browsers
GRCh38.p13 Ensembl6121,435,595 - 121,449,727 (+)EnsemblGRCh38hg38GRCh38
GRCh386121,435,646 - 121,449,727 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh376121,756,792 - 121,770,873 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 366121,798,444 - 121,812,572 (+)NCBINCBI36hg18NCBI36
Build 346121,798,486 - 121,812,571NCBI
Celera6122,501,175 - 122,515,303 (+)NCBI
Cytogenetic Map6q22.31NCBI
HuRef6119,340,180 - 119,354,307 (+)NCBIHuRef
CHM1_16122,020,528 - 122,034,696 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)

Disease Annotations     Click to see Annotation Detail View
Acute Lung Injury  (ISO)
adenoma  (EXP)
amnestic disorder  (ISO)
arrhythmogenic right ventricular cardiomyopathy  (IEP)
atrial fibrillation  (IEP,ISO)
atrioventricular septal defect  (EXP)
Atrioventricular Septal Defect 3  (IAGP)
autistic disorder  (EXP)
autoimmune thyroiditis  (ISO)
autosomal recessive craniometaphyseal dysplasia  (IAGP)
Basaran Yilmaz Syndrome  (EXP)
borna disease  (ISO)
Brain Injuries  (ISO)
brain ischemia  (ISO)
Breast Neoplasms  (EXP)
Cardiac Arrhythmias  (EXP,ISO)
Cardiac Fibrosis  (ISO)
chronic kidney disease  (EXP)
Chylothorax  (ISO)
cleft lip  (IAGP)
coronary aneurysm  (EXP)
Diabetic Foot  (IEP)
Diaphragmatic Hernia  (EXP)
dilated cardiomyopathy  (IEP)
Disease Progression  (EXP)
epilepsy  (IAGP)
erythrokeratodermia variabilis  (IAGP)
erythrokeratodermia variabilis et progressiva 3  (IAGP)
Experimental Arthritis  (ISO)
Experimental Diabetes Mellitus  (ISO)
Experimental Liver Cirrhosis  (EXP)
genetic disease  (IAGP)
Hearing Loss  (IAGP)
Hemorrhagic Shock  (ISO)
hereditary lymphedema IA  (IAGP)
high grade glioma  (ISO)
Huntington's disease  (IEP)
Hyperalgesia  (ISO)
hypertension  (EXP,ISO)
hypoplastic left heart syndrome  (EXP,IAGP)
Hypoplastic Left Heart Syndrome 1  (IAGP)
impotence  (ISO)
intellectual disability  (IAGP)
ischemia  (ISO)
Lung Neoplasms  (EXP)
Lymphatic Abnormalities  (ISO)
myocardial infarction  (ISO)
Myocardial Reperfusion Injury  (EXP)
myocarditis  (IEP)
Neuralgia  (ISO)
Nonsyndromic Sensorineural Hearing Loss  (IAGP)
oculodentodigital dysplasia  (EXP,IAGP,ISO)
Oculodentodigital Dysplasia, Autosomal Recessive  (IAGP)
Overactive Urinary Bladder  (ISO)
palmoplantar keratoderma and congenital alopecia 1  (IAGP)
palmoplantar keratosis  (IAGP)
Parkinsonism  (ISO)
Prostatic Neoplasms  (EXP)
pulmonary hypertension  (ISO)
renovascular hypertension  (ISO)
Schwartz-Lelek Syndrome  (IAGP)
Skin Neoplasms  (EXP)
Spinal Cord Injuries  (ISO)
Sudden Cardiac Death  (ISO)
syndactyly  (IAGP)
syndactyly type 3  (IAGP)
syndactyly type 5  (IAGP)
tetralogy of Fallot  (IEP)
tongue squamous cell carcinoma  (ISO)
transient cerebral ischemia  (ISO)
type 2 diabetes mellitus  (ISO)
urethral obstruction  (ISO)
visual epilepsy  (IAGP,ISO)

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-pilocarpine  (ISO)
(-)-antofine  (ISO)
(R)-lipoic acid  (ISO)
(S)-colchicine  (ISO)
1,3-dinitrobenzene  (ISO)
1-heptanol  (ISO)
1-naphthyl isothiocyanate  (ISO)
1-O-palmitoyl-2-O-(5-oxovaleryl)-sn-glycero-3-phosphocholine  (ISO)
17alpha-ethynylestradiol  (EXP,ISO)
17beta-estradiol  (EXP,ISO)
2,2',4,4',5,5'-hexabromobiphenyl  (EXP)
2,2',4,4',5,5'-hexachlorobiphenyl  (EXP,ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4-diaminotoluene  (ISO)
2,6-di-tert-butyl-4-methylphenol  (ISO)
2-acetamidofluorene  (ISO)
2-butoxyethanol  (ISO)
3,3',5-triiodo-L-thyronine  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
3,5-dibromo-4-hydroxybenzonitrile  (ISO)
3,5-diethoxycarbonyl-1,4-dihydrocollidine  (ISO)
3-\{1-[3-(dimethylamino)propyl]-1H-indol-3-yl\}-4-(1H-indol-3-yl)-1H-pyrrole-2,5-dione  (ISO)
3-methyladenine  (ISO)
3-methylcholanthrene  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4-hydroxyphenyl retinamide  (ISO)
4-tert-Octylphenol  (ISO)
4-vinylcyclohexene dioxide  (ISO)
5-aza-2'-deoxycytidine  (EXP,ISO)
5-azacytidine  (EXP,ISO)
5-fluorouracil  (EXP,ISO)
7,12-dimethyltetraphene  (ISO)
8-Br-cAMP  (EXP)
acetamide  (ISO)
acetylleucyl-leucyl-norleucinal  (EXP)
acetylsalicylic acid  (ISO)
acrylamide  (ISO)
afimoxifene  (EXP)
aflatoxin B1  (EXP,ISO)
aldehydo-D-glucose  (EXP,ISO)
all-trans-retinoic acid  (EXP,ISO)
all-trans-retinol  (ISO)
ametryn  (ISO)
amiodarone  (ISO)
ammonium chloride  (ISO)
amphetamine  (ISO)
anastrozole  (EXP)
anthra[1,9-cd]pyrazol-6(2H)-one  (ISO)
apocynin  (ISO)
Aroclor 1254  (ISO)
arotinoid acid  (ISO)
arsenite(3-)  (EXP)
arsenous acid  (EXP)
astaxanthin  (ISO)
atenolol  (ISO)
atrazine  (ISO)
benzene  (ISO)
benzo[a]pyrene  (EXP,ISO)
Benzoyl peroxide  (ISO)
beta-carotene  (ISO)
bis(2-chloroethyl) sulfide  (ISO)
bis(2-ethylhexyl) phthalate  (EXP,ISO)
bisphenol A  (EXP,ISO)
BQ 123  (ISO)
bucladesine  (ISO)
butyric acid  (ISO)
cadmium atom  (EXP,ISO)
cadmium dichloride  (EXP,ISO)
caffeine  (ISO)
calcidiol  (ISO)
calciol  (ISO)
capsanthin  (ISO)
carbendazim  (ISO)
carbon nanotube  (ISO)
carvedilol  (EXP,ISO)
chaetoglobosin A  (ISO)
chloral hydrate  (ISO)
chloropicrin  (EXP)
chloroprene  (ISO)
chloroquine  (ISO)
chlorothalonil  (ISO)
choline  (ISO)
chromium atom  (ISO)
cisplatin  (ISO)
clozapine  (ISO)
cobalt dichloride  (EXP,ISO)
copper atom  (ISO)
copper(0)  (ISO)
curcumin  (EXP)
cyclophosphamide  (ISO)
cylindrospermopsin  (EXP)
D-glucose  (EXP,ISO)
decabromodiphenyl ether  (ISO)
dexamethasone  (ISO)
diarsenic trioxide  (EXP)
dibenzo[a,l]pyrene  (EXP)
dibutyl phthalate  (ISO)
diclofenac  (ISO)
dieldrin  (EXP,ISO)
diethylstilbestrol  (ISO)
dimethyl sulfoxide  (ISO)
dimethylarsinous acid  (EXP)
dioxygen  (EXP,ISO)
diuron  (ISO)
doxorubicin  (EXP,ISO)
doxycycline  (ISO)
ebselen  (ISO)
endosulfan  (EXP,ISO)
ethanol  (ISO)
ethidium  (ISO)
etoposide  (ISO)
ferric oxide  (ISO)
fluoranthene  (ISO)
fluorene  (ISO)
fluoxetine  (ISO)
flutamide  (EXP,ISO)
folic acid  (EXP,ISO)
fucoxanthin  (EXP)
fulvestrant  (EXP)
furan  (ISO)
gamma-hexachlorocyclohexane  (ISO)
Gastrodin  (ISO)
genistein  (EXP,ISO)
glafenine  (ISO)
glucose  (EXP,ISO)
glutaraldehyde  (ISO)
gossypol  (ISO)
griseofulvin  (EXP)
haloperidol  (ISO)
heptachlor  (EXP)
Heptachlor epoxide  (EXP,ISO)
hydrogen peroxide  (EXP,ISO)
hydrogen sulfide  (ISO)
hydroxyflutamide  (ISO)
imidacloprid  (ISO)
indoxyl sulfate  (ISO)
ioxynil  (ISO)
iprodione  (ISO)
irinotecan  (EXP,ISO)
isocarbophos  (ISO)
isoprenaline  (ISO)
L-ascorbic acid  (ISO)
L-methionine  (ISO)
lactacystin  (ISO)
lead diacetate  (ISO)
lead(0)  (ISO)
lead(2+)  (ISO)
leflunomide  (ISO)
letrozole  (EXP)
leupeptin  (EXP)
lipoic acid  (ISO)
lipopolysaccharide  (ISO)
lithium atom  (ISO)
lithium chloride  (ISO)
lithium hydride  (ISO)
losartan  (ISO)
lycopene  (ISO)
lysophosphatidylcholine  (ISO)
manganese(II) chloride  (ISO)
medroxyprogesterone acetate  (EXP)
menadione  (ISO)
mercury dichloride  (EXP)
methoxychlor  (ISO)
methylseleninic acid  (EXP)
metoprolol  (ISO)
mifepristone  (EXP)
mono(2-ethylhexyl) phthalate  (EXP,ISO)
N-benzyloxycarbonyl-L-leucyl-L-leucyl-L-leucinal  (EXP,ISO)
N-ethyl-N-nitrosourea  (ISO)
N-methyl-4-phenylpyridinium  (ISO)
N-methyl-N'-nitro-N-nitrosoguanidine  (ISO)
N-nitrosodiethylamine  (ISO)
N-nitrosodimethylamine  (ISO)
nickel sulfate  (EXP)
nitric oxide  (ISO)
nitrofen  (ISO)
ochratoxin A  (EXP,ISO)
okadaic acid  (ISO)
oxaliplatin  (ISO)
p-cresol  (ISO)
p-tert-Amylphenol  (ISO)
paracetamol  (EXP,ISO)
paraquat  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (ISO)
phenethyl isothiocyanate  (ISO)
phenobarbital  (ISO)
phenol  (ISO)
phenol red  (EXP)
phenylephrine  (ISO)
phorbol 13-acetate 12-myristate  (EXP,ISO)
piperonyl butoxide  (ISO)
pirinixic acid  (ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
progesterone  (EXP,ISO)
propranolol  (ISO)
quercetin  (ISO)
radicicol  (ISO)
reactive oxygen species  (EXP)
resveratrol  (EXP,ISO)
Ro 41-5253  (ISO)
rotenone  (ISO)
SB 203580  (EXP,ISO)
silicon dioxide  (ISO)
silver atom  (EXP)
silver(0)  (EXP)
simvastatin  (ISO)
sodium arsenate  (EXP,ISO)
sodium arsenite  (EXP)
sodium dodecyl sulfate  (EXP)
sodium fluoride  (ISO)
sodium sulfide (anhydrous)  (ISO)
Soman  (ISO)
succimer  (ISO)
sulfur dioxide  (ISO)
tamoxifen  (EXP,ISO)
tert-butyl hydroperoxide  (EXP)
testosterone  (ISO)
tetrachloromethane  (ISO)
titanium dioxide  (ISO)
tolbutamide  (ISO)
toluene  (ISO)
topotecan  (EXP,ISO)
toxaphene  (EXP)
tributylstannane  (ISO)
trichloroethene  (ISO)
triclosan  (EXP)
Triptolide  (ISO)
triptonide  (ISO)
trovafloxacin  (ISO)
urethane  (ISO)
valdecoxib  (ISO)
valproic acid  (EXP,ISO)
vanadium atom  (ISO)
vanadium(0)  (ISO)
vinclozolin  (ISO)
vitamin E  (ISO)
WIN 55212-2  (ISO)
wortmannin  (ISO)
zardaverine  (ISO)
zinc atom  (ISO)
zinc sulfate  (ISO)
zinc(0)  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
adult heart development  (ISO)
apoptotic process  (IEA,ISO)
ATP transport  (IEA,ISO)
atrial cardiac muscle cell action potential  (TAS)
atrial ventricular junction remodeling  (ISO)
blood vessel morphogenesis  (ISO)
bone development  (ISS)
bone remodeling  (ISS)
cardiac conduction  (ISO)
cardiac conduction system development  (NAS)
cell communication  (ISO)
cell communication by chemical coupling  (ISO)
cell communication by electrical coupling  (IDA,ISO)
cell communication by electrical coupling involved in cardiac conduction  (NAS)
cell-cell junction organization  (ISO)
cell-cell signaling  (IBA,IDA,ISO)
cellular protein localization  (IMP)
cellular response to amyloid-beta  (ISS)
cellular response to mechanical stimulus  (IEA,ISO)
cellular response to parathyroid hormone stimulus  (IEA,ISO)
cellular response to pH  (ISO)
cellular response to platelet-derived growth factor stimulus  (ISO)
chronic inflammatory response  (IEA,ISO)
decidualization  (IEA,ISO)
embryonic digit morphogenesis  (ISO)
embryonic heart tube development  (ISO)
endothelium development  (IEA,ISO)
epididymis development  (IEA,ISO)
epithelial cell maturation  (ISO)
establishment of mitotic spindle orientation  (IMP)
export across plasma membrane  (ISS)
gap junction assembly  (TAS)
glutamate secretion  (ISS)
glutathione transmembrane transport  (IEA)
heart development  (ISO)
heart looping  (ISO)
in utero embryonic development  (ISO)
ion transmembrane transport  (IDA)
lens development in camera-type eye  (ISO)
maintenance of blood-brain barrier  (NAS)
maintenance of protein localization in endoplasmic reticulum  (IEA,ISO)
male gonad development  (ISO)
microtubule-based transport  (IMP)
milk ejection reflex  (ISO)
negative regulation of cardiac muscle cell proliferation  (IEA,ISO)
negative regulation of cell growth  (ISS)
negative regulation of cell population proliferation  (ISO)
negative regulation of DNA biosynthetic process  (IEA,ISO)
negative regulation of endothelial cell proliferation  (IEA,ISO)
negative regulation of gene expression  (ISO)
negative regulation of gonadotropin secretion  (IMP)
negative regulation of trophoblast cell migration  (IMP)
negative regulation of wound healing  (IEA,ISO)
neuron migration  (ISO)
neuron projection morphogenesis  (IEA,ISO)
osteoblast differentiation  (ISO)
positive regulation of behavioral fear response  (IEA,ISO)
positive regulation of cell communication by chemical coupling  (IEA,ISO)
positive regulation of cold-induced thermogenesis  (ISS)
positive regulation of cytosolic calcium ion concentration  (IEA,ISO)
positive regulation of gene expression  (IMP,ISO)
positive regulation of glomerular filtration  (IEA,ISO)
positive regulation of I-kappaB kinase/NF-kappaB signaling  (HMP)
positive regulation of insulin secretion  (IEA,ISO)
positive regulation of mesodermal cell differentiation  (IMP)
positive regulation of morphogenesis of an epithelium  (IMP)
positive regulation of protein catabolic process  (IEA,ISO)
positive regulation of smooth muscle cell chemotaxis  (ISO)
positive regulation of stem cell proliferation  (IMP)
positive regulation of striated muscle tissue development  (ISO)
positive regulation of vascular associated smooth muscle cell proliferation  (IMP)
positive regulation of vasoconstriction  (IEA,ISO)
regulation of apoptotic process  (IEA)
regulation of atrial cardiac muscle cell membrane depolarization  (ISO)
regulation of bicellular tight junction assembly  (IEA,ISO)
regulation of bone mineralization  (ISO)
regulation of bone remodeling  (ISO)
regulation of calcium ion transport  (IEA,ISO)
regulation of cell communication by electrical coupling  (IEA,ISO)
regulation of heart contraction  (ISO)
regulation of transmembrane transporter activity  (IEA)
regulation of ventricular cardiac muscle cell membrane depolarization  (ISO)
regulation of ventricular cardiac muscle cell membrane repolarization  (ISO)
response to estradiol  (IEA,ISO)
response to fluid shear stress  (IEA,ISO)
response to glucose  (IEA,ISO)
response to ischemia  (IEA,ISO)
response to lipopolysaccharide  (IEA,ISO)
response to peptide hormone  (IEA,ISO)
response to pH  (IEA,ISO)
response to retinoic acid  (IEA,ISO)
response to wounding  (ISO)
signal transduction  (IDA)
skeletal muscle tissue regeneration  (ISO)
spermatogenesis  (ISS)
T cell activation  (ISO)
T cell proliferation  (ISO)
transmembrane transport  (IEA,ISO)
vascular transport  (IEA,ISO)
vasodilation  (ISO)
xenobiotic transport  (ISS)

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
2-4 toe cutaneous syndactyly  (IAGP)
3-4 toe syndactyly  (IAGP)
4-5 finger syndactyly  (IAGP)
Abnormal blistering of the skin  (IAGP)
Abnormal clavicle morphology  (IAGP)
Abnormal cortical bone morphology  (IAGP)
Abnormal diaphysis morphology  (IAGP)
Abnormal fingernail morphology  (IAGP)
Abnormal form of the vertebral bodies  (IAGP)
Abnormal nasopharynx morphology  (IAGP)
Abnormal testis morphology  (IAGP)
Abnormal thorax morphology  (IAGP)
Abnormality iris morphology  (IAGP)
Abnormality of cardiovascular system morphology  (IAGP)
Abnormality of chromosome segregation  (IAGP)
Abnormality of dental enamel  (IAGP)
Abnormality of limb bone morphology  (IAGP)
Abnormality of skin pigmentation  (IAGP)
Abnormality of the cerebral white matter  (IAGP)
Abnormality of the face  (IAGP)
Abnormality of the metaphysis  (IAGP)
Abnormality of the nail  (IAGP)
Abnormality of the pinna  (IAGP)
Absent middle phalanx of 5th finger  (IAGP)
Alopecia  (IAGP)
Aortic valve stenosis  (IAGP)
Aplasia/Hypoplasia of the cerebellum  (IAGP)
Aplasia/Hypoplasia of the middle phalanges of the hand  (IAGP)
Arrhythmia  (IAGP)
Ataxia  (IAGP)
Atrial septal defect  (IAGP)
Autosomal dominant inheritance  (IAGP)
Autosomal recessive inheritance  (IAGP)
Basal ganglia calcification  (IAGP)
Bilateral microphthalmos  (IAGP)
Blepharophimosis  (IAGP)
Bony paranasal bossing  (IAGP)
Brachycephaly  (IAGP)
Brachydactyly  (IAGP)
Brittle hair  (IAGP)
Broad alveolar ridges  (IAGP)
Broad columella  (IAGP)
Broad long bones  (IAGP)
Camptodactyly of finger  (IAGP)
Carious teeth  (IAGP)
Cataract  (IAGP)
Cerebral calcification  (IAGP)
Cleft palate  (IAGP)
Cleft upper lip  (IAGP)
Clinodactyly  (IAGP)
Clinodactyly of the 5th finger  (IAGP)
Club-shaped distal femur  (IAGP)
Coarctation of aorta  (IAGP)
Coarse facial features  (IAGP)
Conductive hearing impairment  (IAGP)
Congenital alopecia totalis  (IAGP)
Congestive heart failure  (IAGP)
Corneal opacity  (IAGP)
Cranial hyperostosis  (IAGP)
Craniofacial hyperostosis  (IAGP)
Cubitus valgus  (IAGP)
Curly hair  (IAGP)
Cutaneous photosensitivity  (IAGP)
Cyanosis  (IAGP)
Deeply set eye  (IAGP)
Delayed eruption of permanent teeth  (IAGP)
Delayed eruption of teeth  (IAGP)
Delayed skeletal maturation  (IAGP)
Dental crowding  (IAGP)
Dental malocclusion  (IAGP)
Depressed nasal bridge  (IAGP)
Diabetes mellitus  (IAGP)
Downslanted palpebral fissures  (IAGP)
Dry hair  (IAGP)
Dry skin  (IAGP)
Dysarthria  (IAGP)
Dystrophic fingernails  (IAGP)
Edema of the dorsum of feet  (IAGP)
Epicanthus  (IAGP)
Epidermal acanthosis  (IAGP)
Erythema  (IAGP)
External ear malformation  (IAGP)
Facial hyperostosis  (IAGP)
Facial palsy  (IAGP)
Failure to thrive  (IAGP)
Fifth finger distal phalanx clinodactyly  (IAGP)
Fine hair  (IAGP)
Finger syndactyly  (IAGP)
Fingernail dysplasia  (IAGP)
First degree atrioventricular block  (IAGP)
Flared metaphysis  (IAGP)
Fragile nails  (IAGP)
Frontal bossing  (IAGP)
Gait disturbance  (IAGP)
Generalized hirsutism  (IAGP)
Glaucoma  (IAGP)
Hearing impairment  (IAGP)
High forehead  (IAGP)
High hypermetropia  (IAGP)
Hip dislocation  (IAGP)
Hyperactive deep tendon reflexes  (IAGP)
Hypergranulosis  (IAGP)
Hypermelanotic macule  (IAGP)
Hyperreflexia  (IAGP)
Hypertelorism  (IAGP)
Hypertension  (IAGP)
Hypoglycemia  (IAGP)
Hypoplasia of dental enamel  (IAGP)
Hypoplasia of teeth  (IAGP)
Hypoplasia of the maxilla  (IAGP)
Hypoplastic aortic arch  (IAGP)
Hypoplastic left heart  (IAGP)
Hypotelorism  (IAGP)
Infantile onset  (IAGP)
Inlet ventricular septal defect  (IAGP)
Intellectual disability  (IAGP)
Joint contracture of the 5th finger  (IAGP)
Keratosis pilaris  (IAGP)
Large earlobe  (IAGP)
Large fontanelles  (IAGP)
Leukodystrophy  (IAGP)
Leukonychia  (IAGP)
Long nose  (IAGP)
Long philtrum  (IAGP)
Low hanging columella  (IAGP)
Low-set ears  (IAGP)
Macrocephaly  (IAGP)
Macrodontia of permanent maxillary central incisor  (IAGP)
Madelung deformity  (IAGP)
Mandibular prognathia  (IAGP)
Maternal diabetes  (IAGP)
Median cleft lip  (IAGP)
Metaphyseal dysplasia  (IAGP)
Microcephaly  (IAGP)
Microcornea  (IAGP)
Microdontia  (IAGP)
Micrognathia  (IAGP)
Microphthalmia  (IAGP)
Midsystolic murmur  (IAGP)
Mild global developmental delay  (IAGP)
Mitral atresia  (IAGP)
Mitral stenosis  (IAGP)
Mixed hearing impairment  (IAGP)
Muscle weakness  (IAGP)
Myopia  (IAGP)
Nail dysplasia  (IAGP)
Narrow mouth  (IAGP)
Narrow nasal bridge  (IAGP)
Narrow nose  (IAGP)
Nasal obstruction  (IAGP)
Neoplasm of the skin  (IAGP)
Neurogenic bladder  (IAGP)
Non-midline cleft lip  (IAGP)
Nystagmus  (IAGP)
Oligogenic inheritance  (IAGP)
Optic atrophy  (IAGP)
Osteopetrosis  (IAGP)
Palmoplantar hyperkeratosis  (IAGP)
Palmoplantar keratoderma  (IAGP)
Paraparesis  (IAGP)
Patchy palmoplantar keratoderma  (IAGP)
Patchy sclerosis of finger phalanx  (IAGP)
Patent ductus arteriosus  (IAGP)
Persistent pupillary membrane  (IAGP)
Preaxial hand polydactyly  (IAGP)
Premature loss of primary teeth  (IAGP)
Premature loss of teeth  (IAGP)
Primum atrial septal defect  (IAGP)
Protruding ear  (IAGP)
Pulmonary arterial hypertension  (IAGP)
Reduced number of teeth  (IAGP)
Seizure  (IAGP)
Selective tooth agenesis  (IAGP)
Sensorineural hearing impairment  (IAGP)
Short 5th finger  (IAGP)
Short foot  (IAGP)
Short hallux  (IAGP)
Short middle phalanx of the 5th finger  (IAGP)
Short nose  (IAGP)
Short palpebral fissure  (IAGP)
Short stature  (IAGP)
Short toe  (IAGP)
Skeletal dysplasia  (IAGP)
Skin rash  (IAGP)
Slow-growing hair  (IAGP)
Small hand  (IAGP)
Sparse eyelashes  (IAGP)
Sparse hair  (IAGP)
Spastic paraparesis  (IAGP)
Spasticity  (IAGP)
Strabismus  (IAGP)
Syndactyly  (IAGP)
Tapered finger  (IAGP)
Taurodontia  (IAGP)
Telecanthus  (IAGP)
Tetraparesis  (IAGP)
Thin anteverted nares  (IAGP)
Thin vermilion border  (IAGP)
Toe syndactyly  (IAGP)
Umbilical hernia  (IAGP)
Underdeveloped nasal alae  (IAGP)
Upslanted palpebral fissure  (IAGP)
Ventricular septal defect  (IAGP)
Vertebral hyperostosis  (IAGP)
Visual impairment  (IAGP)
Weight loss  (IAGP)
Wide nasal bridge  (IAGP)

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Additional References at PubMed
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