Gene Summary

Name:
WD repeat and SOCS box-containing 2
Synonyms:
N/A

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
female infertility Wsb2tm1b(EUCOMM)Hmgu HOM Early adult 0.00
abnormal retinal vasculature morphology Wsb2tm1b(EUCOMM)Hmgu HOM Early adult 4.70×10-06
increased circulating alkaline phosphatase level Wsb2tm1b(EUCOMM)Hmgu HOM   Early adult 2.53×10-08
decreased total retina thickness Wsb2tm1b(EUCOMM)Hmgu HOM Early adult 1.11×10-43
decreased cardiac muscle contractility Wsb2tm1b(EUCOMM)Hmgu HOM Early adult 4.52×10-05
decreased food intake Wsb2tm1b(EUCOMM)Hmgu HOM Early adult 6.01×10-09
increased grip strength Wsb2tm1b(EUCOMM)Hmgu HOM Early adult 2.30×10-12
decreased heart rate Wsb2tm1b(EUCOMM)Hmgu HOM Early adult 3.16×10-06
abnormal retinal blood vessel morphology Wsb2tm1b(EUCOMM)Hmgu HOM Early adult 8.54×10-06
decreased vertical activity Wsb2tm1b(EUCOMM)Hmgu HOM Early adult 3.10×10-08
hypoactivity Wsb2tm1b(EUCOMM)Hmgu HOM Early adult 7.98×10-05
male infertility Wsb2tm1b(EUCOMM)Hmgu HOM Early adult 0.00
decreased respiratory quotient Wsb2tm1b(EUCOMM)Hmgu HOM Early adult 2.12×10-10
hyperactivity Wsb2tm1b(EUCOMM)Hmgu HOM Early adult 2.82×10-07
abnormal tooth morphology Wsb2tm1b(EUCOMM)Hmgu HOM Early adult 3.66×10-12

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Brain  Wholemount images heterozygote 100% (2 of 2)
Chest bone  Wholemount images heterozygote 100% (2 of 2)
Eye  Wholemount images heterozygote 50% (1 of 2)
Kidney  Wholemount images heterozygote 100% (2 of 2)
Lung  Wholemount images heterozygote 100% (2 of 2)
Pituitary gland  Wholemount images heterozygote 100% (2 of 2)
Skin  Wholemount images heterozygote 100% (2 of 2)
Spinal cord  Wholemount images heterozygote 100% (2 of 2)
Stomach  Wholemount images heterozygote 100% (2 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Urinary bladder  Wholemount images heterozygote 100% (2 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Blood N/A heterozygote 0.0% (0 of 2)
Bone marrow N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cecum N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Colon N/A heterozygote 0.0% (0 of 2)
Cranium N/A heterozygote 0.0% (0 of 2)
Diaphragm N/A heterozygote 0.0% (0 of 2)
Epididymis N/A heterozygote Not available
Esophagus N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Harderian gland N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hindlimb N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Main olfactory bulb N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote Not available
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote Not available
Oviduct N/A heterozygote Not available
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Parotid gland N/A heterozygote 0.0% (0 of 2)
Penis N/A heterozygote Not available
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote Not available
Sciatic nerve N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach pyloric region N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Sublingual gland N/A heterozygote 0.0% (0 of 2)
Submandibular gland N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Tongue N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote Not available
Vagina N/A heterozygote Not available
Vas deferens N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
Vesicular gland N/A heterozygote Not available
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 584)
aorta 0.17% (1 of 584)
blood 0.0%
bone 0.0%
bone marrow 0.0%
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cecum 2.97% (11 of 370)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
chest bone Unavailable
colon 8.73% (11 of 126)
cranium
diaphragm 0.0%
epididymis 12.78% (17 of 133)
esophagus 1.72% (7 of 408)
eye 0.0%
gall bladder 0.0%
harderian gland 0.0%
heart 0.34% (2 of 584)
hindlimb 0.0%
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
main olfactory bulb 0.0%
mammary gland 0.0%
mesenteric lymph node 0.0%
olfactory lobe 0.34% (2 of 584)
oral epithelium 0.0%
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
parathyroid gland 0.18% (1 of 562)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.34% (2 of 584)
peyers patch 0.0%
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
stomach pyloric region 0.0%
striatum 0.51% (3 of 584)
sublingual gland 0.0%
submandibular gland 1.53% (2 of 131)
testis 1.03% (6 of 584)
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
tongue 3.97% (5 of 126)
trachea 0.51% (3 of 584)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.0%
vagina 0.0%
vas deferens 3.67% (14 of 381)
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Adult LacZ

LacZ Images Wholemount

24 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Human diseases caused by Wsb2 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Wsb2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Arrhythmia, Sick sinus syndrome, Hyperactivity, Bradycardia, Attention deficit hyperactivity diso... OMIM:617182
Intellectual Developmental Disorder With Cardiac Arrhythmia
Arrhythmia, Sick sinus syndrome, Retinal degeneration, Bradycardia OMIM:617173
Mental Retardation, Autosomal Dominant 33
Chorioretinal degeneration, Hyperactivity OMIM:616311
Mental Retardation, Autosomal Dominant 45
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617600
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity OMIM:301008
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Abnormal meiosis, Oocyte arrest at metaphase I ORPHA:488191
Oocyte Maturation Defect 9
Female infertility, Oocyte arrest at metaphase I OMIM:619011
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Oocyte Maturation Defect 2
Female infertility, Oocyte arrest at metaphase I OMIM:616780
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Mental Retardation, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Spermatogenic Failure 5
Male infertility, Functional abnormality of male internal genitalia OMIM:243060
Oocyte Maturation Defect 8
Female infertility OMIM:619009
Immunodeficiency 8
Hyperactivity OMIM:615401
Lipoyltransferase 1 Deficiency
Pulmonary arterial hypertension, Increased total bilirubin, Dystonia, Bradycardia OMIM:616299
Premature Ovarian Failure 19
Irregular menstruation, Female infertility, Secondary amenorrhea, Premature ovarian insufficiency OMIM:619245
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, Palpitations, Bradycardia, Permanent atrial fibrillation OMIM:617280
Regional Odontodysplasia
Enamel hypoplasia, Carious teeth, Abnormal dental enamel morphology, Pulp calcification, Hypoplas... ORPHA:83450
Atrial Standstill
Palpitations, Reduced ejection fraction, Arrhythmia, Ischemic stroke, Cardiac conduction abnormal... ORPHA:1344
Coenzyme Q10 Deficiency, Primary, 5
Dystonia, Hyperalaninemia, Bradycardia OMIM:614654
Idiopathic Congenital Hypothyroidism
Macroglossia, Neonatal hyperbilirubinemia, Lethargy, Bradycardia ORPHA:95717
Mental Retardation, Autosomal Dominant 52
Hyperactivity OMIM:617796
Paroxysmal Extreme Pain Disorder
Mandibular pain, Tachycardia, Bradycardia OMIM:167400
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Arrhythmia, Dysphagia, Gait disturbance, Hypogonadism, Bradycardia, Premature ovarian insufficien... OMIM:609286
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Inability to walk, Hyperactivity OMIM:616657
Coenzyme Q10 Deficiency, Primary, 7
Dysphagia, Bradycardia, Hypertrophic cardiomyopathy OMIM:616276
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Acrocyanosis, Long philtrum, Dystonia, Truncal ataxia, Atrioventricular block, Thick lower lip ve... OMIM:614407
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity OMIM:309548
Mental Retardation, Autosomal Recessive 37
Hyperactivity OMIM:615493
Carnitine-Acylcarnitine Translocase Deficiency
Lethargy, Hypotension, Ventricular extrasystoles, Ventricular tachycardia, Atrioventricular block... OMIM:212138
Oocyte Maturation Defect 7
Female infertility OMIM:618550
Oocyte Maturation Defect 6
Female infertility OMIM:618353
Preimplantation Embryonic Lethality 1
Female infertility OMIM:616814
Progesterone Resistance
Female infertility OMIM:264080
Spermatogenic Failure 46
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Coiled sperm flagel... OMIM:619095
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Micrognathia, Bradycardia, Optic atrophy OMIM:614498
Insulin-Like Growth Factor I Deficiency
Micrognathia, Hyperactivity OMIM:608747
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity ORPHA:356996
Sinoatrial Node Dysfunction And Deafness
Bradycardia OMIM:614896
3-Methylglutaconic Aciduria, Type Viii
Dystonia, Bradycardia OMIM:617248
Myopathy, Myofibrillar, 1
Restrictive cardiomyopathy, Third degree atrioventricular block, Dilated cardiomyopathy, Bradycar... OMIM:601419
Intellectual Developmental Disorder, X-Linked 104
Ataxia, Hyperactivity, High palate, Retrognathia, Optic atrophy OMIM:300983
Spermatogenic Failure 43
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Absent sperm axoneme centra... OMIM:618751
Spermatogenic Failure 49
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Short sperm flagella, Male ... OMIM:619144
Spermatogenic Failure 45
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Short sperm flagella, Male ... OMIM:619094
Chronic Atrial And Intestinal Dysrhythmia
Atrial flutter, Sick sinus syndrome, Atrial fibrillation, Pulmonic stenosis, Mitral regurgitation... OMIM:616201
Developmental And Epileptic Encephalopathy 43
Ataxia, Hyperactivity OMIM:617113
Spermatogenic Failure, X-Linked, 3
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Oligospermia, Coile... OMIM:301059
Tako-Tsubo Cardiomyopathy
Ventricular arrhythmia, Mildly elevated creatine kinase, Prolonged QTc interval, Syncope, Cardiog... ORPHA:66529
Hemochromatosis, Type 2A
Increased circulating ferritin concentration, Infertility, Arrhythmia, Lethargy, Azoospermia, Ame... OMIM:602390
Sotos Syndrome 3
Mandibular prognathia, Hyperactivity OMIM:617169
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Syncope, Bradycardia, Ventricular tachycardia OMIM:611938
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Arrhythmia, Sick sinus syndrome, Ventricular escape rhythm, Retinal degeneration, Prolonged PR in... ORPHA:542306
Spermatogenic Failure 40
Absent sperm flagella, Oligospermia, Immotile sperm, Coiled sperm flagella, Short sperm flagella,... OMIM:618664
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Short philtrum, Open mouth, Everted lower lip vermilion, Smooth philtrum, Abnormality of the dent... OMIM:618342
Intellectual Developmental Disorder, X-Linked 107
Mandibular prognathia, Smooth philtrum, Hyperactivity OMIM:301013
Amelogenesis Imperfecta
Enamel hypoplasia, Abnormality of dental color, Hypoplasia of teeth, Taurodontia, Multiple unerup... ORPHA:88661
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Familial Thyroid Dyshormonogenesis
Macroglossia, Lethargy, Neonatal hyperbilirubinemia, Abnormal circulating thyroglobulin level, Br... ORPHA:95716
Deafness-Infertility Syndrome
Abnormal spermatogenesis, Male infertility, Reduced sperm motility OMIM:611102
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Retinal hole, Falciform retinal fold, Peripheral vitreous opacities,... OMIM:305390
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Decreased plasma free carnitine, Congestive heart failure, Bradycardia, Hyperalaninemia OMIM:619048
Long Qt Syndrome 16
Second degree atrioventricular block, Prolonged QTc interval, Bradycardia, T-wave alternans OMIM:618782
Central Retinal Vein Occlusion
Pigmentary retinopathy, Papilledema, Cystoid macular edema, Epiretinal membrane, Retinal vascular... ORPHA:411527
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Paroxysmal supraventricular tachycardia, Atrial flutter, Ventricular extrasystoles, Atrial fibril... OMIM:616117
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Arrhythmia, Atrial fibrillation, Bradycardia OMIM:614302
Acitretin/Etretinate Embryopathy
Aplasia/Hypoplasia of the optic nerve, Abnormal retinal morphology, Median cleft palate, Third de... ORPHA:40366
Spermatogenic Failure 47
Absent sperm flagella, Oligospermia, Immotile sperm, Short sperm flagella, Male infertility OMIM:619102
Familial Short Qt Syndrome
Ventricular arrhythmia, Palpitations, Shortened QT interval, Atrial fibrillation, Sudden cardiac ... ORPHA:51083
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Tetanus
Dysphagia, Hypertension, Trismus, Tachycardia, Elevated circulating creatine kinase concentration... ORPHA:3299
Hyperinsulinism Due To Ucp2 Deficiency
Palpitations, Lethargy, Polyphagia, Syncope, Increased C-peptide level, Tachycardia, Decreased ci... ORPHA:276556
Spermatogenic Failure 54
Reduced sperm motility, Oligospermia, Tapered sperm head, Coiled sperm flagella, Abnormal sperm a... OMIM:619379
Rubinstein-Taybi Syndrome 2
Carious teeth, Narrow palate, Retrognathia, Increased overbite, Hyperactivity, High palate, Denta... OMIM:613684
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Dilated cardiomyopathy, Bradycardia, Hypertrophic cardiomyopathy OMIM:618815
Spermatogenic Failure 7
Male infertility, Immotile sperm, Reduced sperm motility, Oligospermia OMIM:612997
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligospermia OMIM:619108
Long Qt Syndrome 15
Ventricular fibrillation, Prolonged QT interval, Cardiac arrest, Bradycardia, Prolonged QTc interval OMIM:616249
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Palpitations, Difficulty walking, Loss of ability to walk, Atrioventricular block, Sinus bradycar... OMIM:616812
Spermatogenic Failure 42
Absent sperm flagella, Reduced sperm motility, Tapered sperm head, Microcephalic sperm head, Coil... OMIM:618745
Spermatogenic Failure 39
Absent sperm flagella, Reduced sperm motility, Oligospermia, Tapered sperm head, Coiled sperm fla... OMIM:618643
Atrial Septal Defect 6
Atrial fibrillation, Bradycardia OMIM:613087
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Palpitations, Lethargy, Polyphagia, Syncope, Increased C-peptide level, Tachycardia, Decreased ci... ORPHA:276575
Partial Chromosome Y Deletion
Non-obstructive azoospermia, Male infertility, Abnormal spermatogenesis, Oligospermia ORPHA:1646
Timothy Syndrome
Hypocalcemia, Thin upper lip vermilion, Prolonged QT interval, Microdontia, Bradycardia OMIM:601005
Microcephaly, Seizures, And Developmental Delay
Ataxia, Hyperactivity OMIM:613402
Progressive Familial Heart Block, Type Ib
Arrhythmia, Atrioventricular block, Shortened PR interval, Prolonged QT interval, Left anterior f... OMIM:604559
Eem Syndrome
Carious teeth, Abnormality of retinal pigmentation, Abnormality of dental morphology, Selective t... ORPHA:1897
Spermatogenic Failure 50
Male infertility, Azoospermia, Spermatogenesis maturation arrest OMIM:619145
Infant Acute Respiratory Distress Syndrome
Hypotension, Tachycardia, Cardiac arrest, Hypoxemia, Cyanosis, Bradycardia ORPHA:70587
Combined Oxidative Phosphorylation Defect Type 39
Drooling, Open mouth, Loss of ability to walk, Toe walking, Leg dystonia, Bradycardia, Optic disc... ORPHA:565624
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Spermatogenic Failure 1
Male infertility, Oligospermia, Cryptozoospermia OMIM:258150
Atrial Standstill 2
Palpitations, Atrial standstill, Atrial cardiomyopathy, Atrial arrhythmia, Hyperpepsinogenemia I,... OMIM:615745
Alazami-Yuan Syndrome
Long philtrum, Narrow mouth, Dental crowding, Thin upper lip vermilion, Hyperactivity, High palate OMIM:617126
Dihydropyrimidine Dehydrogenase Deficiency
Lethargy, Optic atrophy, Hyperactivity OMIM:274270
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Palpitations, Lethargy, Polyphagia, Syncope, Increased C-peptide level, Tachycardia, Hypertrophic... ORPHA:276580
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Falciform retinal fold, Vitreous hemorrhage, Retinal exudate, Poster... OMIM:133780
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Illum Syndrome
Pierre-Robin sequence, Excessive salivation, Calcinosis, Bradycardia, Whistling appearance OMIM:208155
Xq25 Microduplication Syndrome
Mandibular prognathia, Malar flattening, Thick vermilion border, Hyperactivity ORPHA:521258
Xq25 Duplication Syndrome
Mandibular prognathia, Malar flattening, Thick vermilion border, Hyperactivity OMIM:300979
Sudden Cardiac Failure, Infantile
Congestive heart failure, Bradycardia, Hypertrophic cardiomyopathy, Myocarditis OMIM:617222
Brugada Syndrome
Ventricular arrhythmia, Sick sinus syndrome, Ventricular fibrillation, Supraventricular tachycard... ORPHA:130
Spermatogenic Failure 41
Oligospermia, Immotile sperm, Tapered sperm head, Short sperm flagella, Male infertility OMIM:618670
Male Infertility Due To Acephalic Spermatozoa
Reduced sperm motility, Oligospermia, Abnormal sperm mid-piece morphology, Acephalic spermatozoa,... ORPHA:529970
Hyperinsulinism Due To Hnf1A Deficiency
Palpitations, Lethargy, Polyphagia, Increased C-peptide level, Tachycardia, Decreased circulating... ORPHA:324575
Neuroleptic Malignant Syndrome
Hyperkalemia, Hypocalcemia, Arrhythmia, Drooling, Hypotension, Dysphagia, Hypernatremia, Excessiv... ORPHA:94093
Oligodontia
Enamel hypoplasia, Oligodontia, Agenesis of maxillary lateral incisor, Hypoplasia of teeth, Oral ... ORPHA:99798
Vitreoretinopathy, Neovascular Inflammatory
Large hyperpigmented retinal spots, Peripheral retinal neovascularization, Vitreoretinopathy, Ret... OMIM:193235
Smith-Magenis syndrome
Hyperactivity DECIPHER:8
Otodental Syndrome
Long philtrum, Carious teeth, Abnormal dental enamel morphology, Pulp calcification, Delayed erup... ORPHA:2791
Jalili Syndrome
Cone/cone-rod dystrophy, Amelogenesis imperfecta, Carious teeth, Optic disc pallor OMIM:217080
Long Qt Syndrome 13
Paroxysmal atrial fibrillation, Atrial fibrillation, Hypertension, Pulmonary embolism, Atrioventr... OMIM:613485
Short Qt Syndrome 2
Shortened QT interval, Atrial fibrillation, Sudden cardiac death, Ventricular fibrillation, Brady... OMIM:609621
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Pseudo-Torch Syndrome 2
Cerebral hemorrhage, Bradycardia, Lethargy OMIM:617397
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Isochromosomy Yp
Male infertility, Azoospermia ORPHA:98797
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Polyphagia, Drooling, Mandibular prognathia, Wide mouth, Ataxia, Hyperactivity, Broad-based gait ORPHA:411515
Glutamine Deficiency, Congenital
Hypoglutaminemia, Hyperammonemia, Thin vermilion border, Bradycardia OMIM:610015
Familial Male-Limited Precocious Puberty
Male infertility, Attention deficit hyperactivity disorder, Oligospermia ORPHA:3000
Aminoacylase 1 Deficiency
Hyperactivity OMIM:609924
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hypertriglyceridemia, Dystonia, Ataxia, Hyperactivity OMIM:615924
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Hyperprolinemia, Type I
Hyperprolinemia, Ataxia, Hyperactivity OMIM:239500
Romano-Ward Syndrome
Ventricular arrhythmia, Torsade de pointes, Sudden cardiac death, Abnormal T-wave, Hypokalemia, S... ORPHA:101016
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hyperactivity OMIM:604317
Glycine Encephalopathy
Lethargy, Hyperglycinemia, Hyperactivity OMIM:605899
Hydatidiform Mole, Recurrent, 4
Female infertility, Recurrent spontaneous abortion OMIM:618432
Hypothyroidism Due To Tsh Receptor Mutations
Macroglossia, Lethargy, Increased circulating thyroglobulin level, Neonatal hyperbilirubinemia, B... ORPHA:90673
Wild Type Attr Amyloidosis
Arrhythmia, Orthostatic hypotension due to autonomic dysfunction, Myocardial infarction, Congesti... ORPHA:330001
Glossopharyngeal Neuralgia
Tongue pain, Mandibular pain, Abnormal palate morphology, Oral-pharyngeal dysphagia, Jaw claudica... ORPHA:221098
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hyperactivity ORPHA:85288
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility OMIM:261550
Necrotizing Enterocolitis
Lethargy, Hypotension, Hyponatremia, Shock, Bradycardia ORPHA:391673
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Gait disturbance, Dysmetria, Hyperactivity OMIM:618090
Cardiomyopathy, Familial Hypertrophic, 6
Asymmetric septal hypertrophy, Ventricular preexcitation, Wolff-Parkinson-White syndrome, Atrial ... OMIM:600858
Dentinogenesis Imperfecta
Generalized hypoplasia of dental enamel, Abnormal dentin morphology, Fragile teeth, Odontodysplas... ORPHA:49042
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Elevated circulating creatine kinase concentration, Papilledema, Bradycardia, Hypertrophic cardio... OMIM:618775
Lipodystrophy, Congenital Generalized, Type 4
Dysphagia, Atrial fibrillation, Hypertriglyceridemia, Tachycardia, Prolonged QT interval, Elevate... OMIM:613327
Long Qt Syndrome 14
Atrioventricular block, Ventricular fibrillation, Sinus bradycardia, Prolonged QT interval, Cardi... OMIM:616247
Intellectual Disability, Birk-Barel Type
Short philtrum, Open mouth, Dysphagia, High, narrow palate, Incisor macrodontia, Thick vermilion ... ORPHA:166108
Spinocerebellar Ataxia Type 32
Progressive cerebellar ataxia, Testicular atrophy, Male infertility, Azoospermia ORPHA:276183
Incessant Infant Ventricular Tachycardia
Bundle branch block, Prolonged QRS complex, Wolff-Parkinson-White syndrome, Ventricular tachycard... ORPHA:45453
Coffin-Siris Syndrome 8
Thin upper lip vermilion, Thick lower lip vermilion, Hyperactivity OMIM:618362
Isochromosomy Yq
Male infertility, Azoospermia ORPHA:98798
Fraxe Intellectual Disability
Thick vermilion border, Hyperactivity ORPHA:100973
Glycogen Storage Disease Of Heart, Lethal Congenital
Macroglossia, Hypotension, Congestive heart failure, Shortened PR interval, Cyanosis, Bradycardia... OMIM:261740
Isolated Thyroid-Stimulating Hormone Deficiency
Hypercholesterolemia, Macroglossia, Lethargy, Neonatal hyperbilirubinemia, Abnormal circulating t... ORPHA:90674
Classic Galactosemia
Premature ovarian insufficiency, Dystonia, Lethargy, Decreased fertility in females, Oligomenorrh... ORPHA:79239
Oocyte Maturation Defect 10
Female infertility, Spontaneous abortion OMIM:619176
Chromosome 3Q29 Deletion Syndrome
Thin upper lip vermilion, Short philtrum, Gait ataxia, Hyperactivity OMIM:609425
Progressive Familial Heart Block, Type Ii
Sudden cardiac death, Complete heart block with narrow QRS complexes, Atrioventricular block, Sin... OMIM:140400
Mental Retardation, Autosomal Dominant 43
Narrow mouth, Hyperactivity OMIM:616977
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Dystonia, Gait ataxia, Drooling, Gait disturbance, Ataxia, Ventricular tachycardia, Oral-pharynge... OMIM:616878
Intellectual Developmental Disorder, X-Linked 30
Drooling, Open mouth, Thin upper lip vermilion, Hyperactivity, High palate OMIM:300558
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Mental Retardation, Autosomal Recessive 61
Conical tooth, High palate, Mandibular prognathia, Hyperactivity OMIM:617773
Optic Atrophy 11
Dysmetria, Optic atrophy, Ataxia, Hyperactivity OMIM:617302
Smith-Magenis Syndrome
Hypercholesterolemia, Mandibular prognathia, Abnormality of the dentition, Oral cleft, Hypertrigl... OMIM:182290
Juvenile Neuronal Ceroid Lipofuscinosis
Pigmentary retinopathy, Dysphagia, Loss of ability to walk, Retinal degeneration, Tachycardia, Op... ORPHA:79264
Retinal Venous Beading
Retinal neovascularization, Retinal infarction, Vitreous hemorrhage, Abnormal distribution of ret... OMIM:180080
Cardiomyopathy, Dilated, 1E
Palpitations, Premature atrial contractions, Atrial standstill, Atrial flutter, Ventricular extra... OMIM:601154
Ck Syndrome
Dental crowding, Hyperactivity, High palate, Retrognathia, Micrognathia, Malar flattening OMIM:300831
Vitreoretinochoroidopathy
Retinal arteriolar occlusion, Pigmentary retinopathy, Abnormality of chorioretinal pigmentation, ... OMIM:193220
Cardiac Arrhythmia, Ankyrin-B-Related
Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Prolonged QT interval, Syncope OMIM:600919
Juvenile Huntington Disease
Dystonia, Gait ataxia, Ataxia, Bradykinesia, Progressive cerebellar ataxia, Hyperactivity, Broad-... ORPHA:248111
Clark-Baraitser Syndrome
Long philtrum, Downturned corners of mouth, Wide mouth, Hyperactivity, High palate OMIM:617752
Ck Syndrome
Dental crowding, Microretrognathia, Hyperactivity, High palate, Malar flattening ORPHA:251383
47,Xyy Syndrome
Azoospermia, Oligospermia, Congenital stationary night blindness, Hyperactivity, Male infertility... ORPHA:8
Proximal Spinal Muscular Atrophy
Inability to walk, Difficulty walking, Dysphagia, Tongue fasciculations, Bradycardia ORPHA:70
Sick Sinus Syndrome 1
Sick sinus syndrome, Ventricular escape rhythm, Atrioventricular block, Absent P wave, Sinus brad... OMIM:608567
Gand Syndrome
Thin upper lip vermilion, Short philtrum, Wide mouth, Hyperactivity OMIM:615074
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Open mouth, Downturned corners of mouth, Everted lower lip vermilion, Unsteady gait, Hyperactivit... OMIM:617865
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Macroglossia, Bradycardia ORPHA:226313
Mannosidosis, Beta A, Lysosomal
Hyperactivity OMIM:248510
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Tongue fasciculations, Bradycardia OMIM:608800
Mental Retardation, Autosomal Recessive 13
Short philtrum, Downturned corners of mouth, Smooth philtrum, Cleft upper lip, Hyperactivity OMIM:613192
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Atrial standstill, Abnormal left ventricular function, Atrial fibrillation, Ventricular tachycard... OMIM:604772
Bohring-Opitz Syndrome
Inability to walk, Retinal atrophy, Cleft lip, Prominent palatine ridges, Cleft palate, Optic atr... ORPHA:97297
Premature Ovarian Failure 6
Streak ovary, Primary amenorrhea, Female infertility, Secondary amenorrhea, Premature ovarian ins... OMIM:612310
Spermatogenic Failure 38
Absent sperm flagella, Reduced sperm motility, Abnormal sperm head morphology, Oligospermia, Tape... OMIM:618433
Graves Disease, Susceptibility To, 1
Congestive heart failure, Polyphagia, Hyperactivity OMIM:275000
Coffin-Siris Syndrome 7
Short philtrum, Wide mouth, Thin upper lip vermilion, Microdontia, Hyperactivity, Broad philtrum OMIM:618027
Potocki-Lupski Syndrome
Dental crowding, Mandibular prognathia, Wide mouth, Smooth philtrum, Oral-pharyngeal dysphagia, H... OMIM:610883
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Palpitations, Prolonged QRS complex, Ventricular extrasystoles, Ventricular tachycardia, Sudden c... OMIM:604400
Sheehan Syndrome
Palpitations, Orthostatic hypotension, Amenorrhea, Oligomenorrhea, Hyponatremia, Impotence, Dyspa... ORPHA:91355
Aapoaiv Amyloidosis
Cardiac conduction abnormality, Abnormal cardiac ventricular function, Atrial flutter, Elevated c... ORPHA:439232
Atrial Septal Defect, Sinus Venosus Type
Premature atrial contractions, Palpitations, Cardiac conduction abnormality, Supraventricular arr... ORPHA:99105
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Lethargy, Elevated circulating creatine kinase concentration, Ventricular tachycardia, Dilated ca... OMIM:600649
Mucopolysaccharidosis, Type Iiic
Asymmetric septal hypertrophy, Dysphagia, Everted lower lip vermilion, Hyperactivity, Rod-cone dy... OMIM:252930
Jalili Syndrome
Amelogenesis imperfecta, Abnormal dental enamel morphology, Abnormality of retinal pigmentation, ... ORPHA:1873
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Hyperactivity OMIM:300434
Autism Spectrum Disorder Due To Auts2 Deficiency
Short philtrum, Narrow mouth, Hyperactivity, Retrognathia, Micrognathia, Attention deficit hypera... ORPHA:352490
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
High palate, Tachycardia, Open mouth, Bradycardia OMIM:614653
Ring Chromosome Y Syndrome
Male hypogonadism, Azoospermia, Streak ovary, Female infertility, Male infertility, Abnormal sper... ORPHA:261529
Congenitally Corrected Transposition Of The Great Arteries
Premature atrial contractions, Cardiac conduction abnormality, Supraventricular tachycardia with ... ORPHA:216694
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Ventricular arrhythmia, Prolonged QRS complex, T-wave inversion, Ventricular tachycardia, Right v... OMIM:611528
Mitochondrial Complex I Deficiency, Nuclear Type 37
Pulmonary arterial hypertension, High palate, Bradycardia OMIM:619272
Long Qt Syndrome 9
Ventricular arrhythmia, Prolonged QT interval, Sinus bradycardia, Cardiac arrest OMIM:611818
2Q23.1 Microdeletion Syndrome
Polyphagia, Open mouth, Everted lower lip vermilion, Ataxia, Tented upper lip vermilion, Hyperact... ORPHA:228402
Usher Syndrome
Abnormality of dental color, Carious teeth, Abnormal dental enamel morphology, Abnormality of ret... ORPHA:886
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Lethargy, Tachycardia ORPHA:276608
Phenylketonuria
Hyperphenylalaninemia, Maternal hyperphenylalaninemia, Attention deficit hyperactivity disorder, ... OMIM:261600
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hypoplasia of the maxilla, Crowded maxillary incisors, Mandibular prognathia, Hyperactivity ORPHA:397973
Intellectual Developmental Disorder, X-Linked 21
Open mouth, Dental crowding, Mandibular prognathia, Tented upper lip vermilion, Hyperactivity OMIM:300143
Congenital Heart Defects, Multiple Types, 3
Atrial fibrillation, Atrioventricular block, Tachycardia, Atrioventricular dissociation, Right bu... OMIM:614954
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Retinal neovascularization, Short philtrum, Micrognathia, Cleft palate OMIM:619074
Sick Sinus Syndrome 2
Aortic regurgitation, Sick sinus syndrome, Atrial fibrillation, Ventricular fibrillation, Sinus b... OMIM:163800
Pheochromocytoma--Islet Cell Tumor Syndrome
Positive regitine blocking test, Episodic hypertension, Cerebral hemorrhage, Tachycardia, Congest... OMIM:171420
Mental Retardation, Autosomal Recessive 39
Hyperactivity OMIM:615541
Trimethylaminuria
Tachycardia, Hypertension OMIM:602079
Snakebite Envenomation
Cardiogenic shock, Pseudobulbar paralysis, Intracranial hemorrhage, Hypotension, Hyponatremia, Ep... ORPHA:449285
Encephalitis Lethargica
Lethargy, Bradycardia ORPHA:83600
Lamb-Shaffer Syndrome
Micrognathia, Thick vermilion border, Ataxia, Hyperactivity, Optic atrophy ORPHA:530983
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Transient hyperphenylalaninemia, Dystonia, Ataxia, Hyperactivity OMIM:612716
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Delayed eruption of teeth, Abnormality of the mouth, Neonatal hyperbilirubinemia, Hyperactivity, ... ORPHA:73272
Cardiomyopathy, Familial Hypertrophic, 10
Palpitations, Asymmetric septal hypertrophy, T-wave inversion, Ventricular tachycardia, Sudden ca... OMIM:608758
Hyperphosphatasia With Mental Retardation Syndrome 6
Elevated circulating creatine kinase concentration, High palate, Wide mouth, Hyperactivity OMIM:616809
Cardiomyopathy, Dilated, 1G
Premature atrial contractions, Reduced ejection fraction, Atrial fibrillation, Ventricular tachyc... OMIM:604145
Sepsis In Premature Infants
Hypotension, Tachycardia, Elevated circulating C-reactive protein concentration, Cyanosis, Bradyc... ORPHA:90051
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypocalcemia, Hypoproteinemia, Arrhythmia, Lethargy, Elevated circulating creatine kinase concent... ORPHA:26793
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Dysphagia, Highly elevated creatine kinase, Tachycardia, Elevated circulating creatine kinase con... ORPHA:368
Histiocytoid Cardiomyopathy
Lethargy, Wolff-Parkinson-White syndrome, Atrial flutter, Atrial fibrillation, Ventricular tachyc... ORPHA:137675
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Variegate Porphyria
Tachycardia OMIM:176200
Mental Retardation, Autosomal Recessive 38
Unsteady gait, Mandibular prognathia, Narrow palate, Hyperactivity OMIM:615516
Myotonic Dystrophy 2
Palpitations, Oligospermia, Tachycardia, Elevated circulating creatine kinase concentration, Hypo... OMIM:602668
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Pierre-Robin sequence, Ventricular extrasystoles, Syncope, Posteriorly placed tongue, Tachycardia... OMIM:192445
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Ventricular extrasystoles, Ventricular tachycardia, Cardiac arrest, Shock, Polymorphic ventricula... OMIM:615441
Carnitine-Acylcarnitine Translocase Deficiency
Decreased plasma carnitine, Hyperammonemia, Arrhythmia, Lethargy, Hypotension, Ventricular tachyc... ORPHA:159
Lennox-Gastaut Syndrome
Falls, Hyperactivity ORPHA:2382
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Inability to walk, Drooling, Downturned corners of mouth, Hyperactivity OMIM:618718
Congenital Disorder Of Glycosylation, Type It
Dilated cardiomyopathy, Pierre-Robin sequence, Sudden cardiac death, Bifid uvula, Tachycardia, Cl... OMIM:614921
Infantile Neuroaxonal Dystrophy
Choking episodes, Dystonia, Drooling, Gait disturbance, Ataxia, Unsteady gait, Hyperactivity, Opt... ORPHA:35069
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Macroglossia, Gait ataxia, Mandibular prognathia, Wide mouth, Hyperactivity, Hypogonadism, Thick ... OMIM:300354
Complete Atrioventricular Septal Defect
Lethargy, Right ventricular failure, Elevated pulmonary artery pressure, Third heart sound, Abnor... ORPHA:1329
Severe Neurodegenerative Syndrome With Lipodystrophy
Gait ataxia, Ataxia, Hypertension, Hypertriglyceridemia, Limb dystonia, Hyperactivity ORPHA:363400
Primary Ciliary Dyskinesia
Female infertility, Abnormal sperm motility, Chronic sinusitis, Male infertility, Rod-cone dystrophy ORPHA:244
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Broad-based gait, Congestive heart failure, Shuffling gait, Hyperactivity ORPHA:3077
Hydroxykynureninuria
Hypotension, Tachycardia OMIM:236800
Hyperlysinemia, Type I
Hyperlysinemia, Hyperactivity OMIM:238700
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Syncope, Cardiac arrest, Ventricular tachycardia OMIM:614916
16P12.1P12.3 Triplication Syndrome
Long philtrum, Thin vermilion border, Wide mouth, Tachycardia, Retrognathia, Hyperactivity, High,... ORPHA:485405
Mend Syndrome
Microretrognathia, High palate, Aortic valve stenosis, Hyperactivity OMIM:300960
Mental Retardation, X-Linked 77
Hyperactivity OMIM:300454
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Oral cleft, Broad-based gait, Hyperactivity ORPHA:457260
Citrullinemia Type Ii
Hypercholesterolemia, Hypoproteinemia, Lethargy, Abnormal eating behavior, Hypertriglyceridemia, ... ORPHA:247585
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Drooling, Widely spaced teeth, Dysphagia, Mandibular prognathia, Wide mouth, Ataxia, Abnormal eat... ORPHA:98794
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Punctate vasculitis skin lesions, Gastrointestinal hemorrhage, Elevated circulating creatinine co... ORPHA:247691
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Inability to walk, Dystonia, Gait ataxia, Dysphagia, Hyperactivity ORPHA:500180
Peripartum Cardiomyopathy
Cardiogenic shock, Palpitations, Reduced ejection fraction, Right ventricular failure, Dilated ca... ORPHA:563
Catecholaminergic Polymorphic Ventricular Tachycardia
Sudden cardiac death, Syncope, Ventricular tachycardia ORPHA:3286
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Macroglossia, Lethargy, Optic nerve hypoplasia, Hypogonadotropic hypogonadism, Bradycardia ORPHA:226307
Cri-Du-Chat Syndrome
Short philtrum, Downturned corners of mouth, Difficulty walking, Microretrognathia, Oral cleft, A... OMIM:123450
Autosomal Recessive Non-Syndromic Intellectual Disability
Dystonia, Hyperactivity ORPHA:88616
Glass Syndrome
Oligodontia, Narrow mouth, Dental crowding, Smooth philtrum, Cleft palate, Hyperactivity, Conical... OMIM:612313
Hypothyroidism, Congenital, Nongoitrous, 2
Macroglossia, Hyperbilirubinemia, Lethargy, Bradycardia OMIM:218700
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Optic atrophy, Hyperactivity ORPHA:369939
Spermatogenic Failure, X-Linked, 2
Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Coproporphyria, Hereditary
Tachycardia, Hypertension OMIM:121300
Chromosome 15Q25 Deletion Syndrome
Tented upper lip vermilion, Cleft upper lip, Cleft palate, Hyperactivity, Attention deficit hyper... OMIM:614294
Succinic Semialdehyde Dehydrogenase Deficiency
Elevated circulating gamma-aminobutyric acid concentration, Ataxia, Hyperactivity OMIM:271980
Myoclonic-Astatic Epilepsy
Long philtrum, Wide mouth, Ataxia, Thin upper lip vermilion, Unsteady gait, Hyperactivity, Broad ... ORPHA:1942
Cardiomyopathy, Familial Hypertrophic, 12
Paroxysmal atrial fibrillation, Sudden cardiac death, Cardiomyopathy, Ventricular tachycardia OMIM:612124
Intellectual Developmental Disorder, Autosomal Recessive 71
Increased overbite, Attention deficit hyperactivity disorder, Hyperactivity OMIM:618504
Atrial Fibrillation, Familial, 1
Tachycardia, Atrial fibrillation OMIM:608583
Atrial Fibrillation, Familial, 3
Tachycardia, Atrial fibrillation OMIM:607554
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Bifid uvula, Pulmonic stenosis, Submucous cleft hard palate, Hyperactivity OMIM:619239
Chromosome 2Q37 Deletion Syndrome
Arrhythmia, Malar flattening, Hyperactivity OMIM:600430
Hallermann-Streiff Syndrome
Chorioretinal coloboma, Thin vermilion border, Narrow palate, Narrow mouth, Everted lower lip ver... OMIM:234100
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Hyperactivity, Cleft upper lip, Cleft palate, Bifid uvula, Broad-based gait OMIM:300958
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Palpitations, Ventricular extrasystoles, Ventricular tachycardia, Sudden cardiac death, Right ven... OMIM:610193
Acquired Methemoglobinemia
Palpitations, Arrhythmia, Hypoxemia, Tachycardia, Cyanosis, Syncope ORPHA:464453
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Long philtrum, Narrow mouth, Downturned corners of mouth, Everted lower lip vermilion, Hyperactivity OMIM:618089
Mental Retardation, Autosomal Dominant 7
Thick lower lip vermilion, Gait disturbance, Smooth philtrum, Ataxia, Thin upper lip vermilion, H... OMIM:614104
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Ventricular extrasystoles, Ventricular tachycardia, Sudden cardiac death, Ventricular fibrillatio... OMIM:607450
Angelman Syndrome
Inability to walk, Polyphagia, Drooling, Dysphagia, Mandibular prognathia, Delayed menarche, Wide... ORPHA:72
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Premature ovarian insufficiency, Thin vermilion border, Abnormality of the dentition, Hyperactivity ORPHA:391307
Mucopolysaccharidosis, Type Iiid
Asymmetric septal hypertrophy, Drooling, Dysphagia, Wide mouth, Hyperactivity, Thick lower lip ve... OMIM:252940
X-Linked Creatine Transporter Deficiency
Dystonia, Open mouth, Abnormal circulating creatine concentration, Ataxia, Hyperactivity, Athetos... ORPHA:52503
Fragile X Syndrome
Mandibular prognathia, Hyperactivity OMIM:300624
Helsmoortel-Van Der Aa Syndrome
Long philtrum, Advanced eruption of teeth, Everted lower lip vermilion, Wide mouth, Smooth philtr... OMIM:615873
Intellectual Developmental Disorder, X-Linked 98
Open mouth, Short philtrum, Ataxia, Hyperactivity OMIM:300912
Hereditary Pulmonary Alveolar Proteinosis
Elevated carcinoembryonic antigen level, Hypoxemia, Tachycardia, Abnormal circulating protein con... ORPHA:264675
Female Restricted Epilepsy With Intellectual Disability
Abnormal eating behavior, Hyperactivity ORPHA:101039
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Ventricular arrhythmia, Cardiac conduction abnormality, Atrial flutter, Abnormal left ventricular... ORPHA:300751
Landau-Kleffner Syndrome
Steppage gait, Gait ataxia, Attention deficit hyperactivity disorder, Hyperactivity ORPHA:98818
Pediatric-Onset Graves Disease
Palpitations, Polyphagia, Sinus tachycardia, Atrial fibrillation, Hypertension, Congestive heart ... ORPHA:525731
Inverted Duplicated Chromosome 15 Syndrome
Short philtrum, Drooling, Hyperactivity, High palate, Hypogonadism ORPHA:3306
Familial Dysautonomia
Acrocyanosis, Orthostatic hypotension, Gait disturbance, Hyponatremia, Hypertension, Ataxia, Tach... ORPHA:1764
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Syncope, Prolonged QT interval, Ventricular tachycardia OMIM:614021
Ciliary Dyskinesia, Primary, 34
Male infertility, Recurrent sinusitis, Immotile sperm OMIM:617091
Malignant Hyperthermia, Susceptibility To, 1
Hypotension, Tachycardia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyper... OMIM:145600
Ventricular Fibrillation, Paroxysmal Familial, 1
Ventricular fibrillation, Tachycardia, Syncope OMIM:603829
Ciliary Dyskinesia, Primary, 9
Male infertility, Recurrent sinusitis OMIM:612444
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Palpitations, Ventricular extrasystoles, Ventricular tachycardia, Left bundle branch block, Presy... OMIM:618920
Hyperthyroidism, Nonautoimmune
Tachycardia, Hyperactivity OMIM:609152
Primary Hyperoxaluria
Acrocyanosis, Intermittent claudication, Cardiomyopathy, Hyperoxaluria, Abnormality of the dentit... ORPHA:416
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Obstructive azoospermia OMIM:301060
Cholera
Hypocalcemia, Lethargy, Hypotension, Hyponatremia, Abnormal blood ion concentration, Hypokalemia,... ORPHA:173
Angelman Syndrome
Macroglossia, Drooling, Progressive gait ataxia, Mandibular prognathia, Wide mouth, Protruding to... OMIM:105830
Scorpion Envenomation
Cardiogenic shock, Arrhythmia, Bundle branch block, Cardiac conduction abnormality, Increased cir... ORPHA:466677
19P13.12 Microdeletion Syndrome
Long philtrum, Thin vermilion border, Arrhythmia, Aortic regurgitation, Hypodontia, Cleft palate,... ORPHA:254346
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Short philtrum, Wide mouth, Thin upper lip vermilion, Optic nerve hypoplasia, Hyperactivity, High... ORPHA:363686
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Gingival recession, Tooth agenesis, Tachycardia, Dilated cardiomyopathy, Syncope OMIM:615821
Neurodegeneration With Brain Iron Accumulation 2B
Dysdiadochokinesis, Dystonia, Gait ataxia, Dysphagia, Bradykinesia, Dysmetria, Hyperactivity, Opt... OMIM:610217
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia, Tachycardia OMIM:221400
Cln5 Disease
Dysdiadochokinesis, Inability to walk, Truncal ataxia, Ataxia, Unsteady gait, Dysmetria, Hyperact... ORPHA:228360
Car T Cell Therapy-Associated Cytokine Release Syndrome
Reduced ejection fraction, Arrhythmia, Hypotension, Elevated circulating creatinine concentration... ORPHA:542323
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Palpitations, Arrhythmia, T-wave inversion, Ventricular tachycardia, Ventricular fibrillation, ST... ORPHA:263297
Acrodysostosis 2 With Or Without Hormone Resistance
Mandibular prognathia, Malar flattening, Hyperactivity OMIM:614613
Bone Marrow Failure Syndrome 3
Enamel hypoplasia, Amelogenesis imperfecta, Hypodontia, Retinal dystrophy, Hyperactivity, Microdo... OMIM:617052
X-Linked Cerebral Adrenoleukodystrophy
Inability to walk, Male hypogonadism, Difficulty walking, Dysphagia, Gait disturbance, Ataxia, Ab... ORPHA:139396
Cardiomyopathy, Dilated, 1O
Dilated cardiomyopathy, Impaired myocardial contractility, Ventricular tachycardia OMIM:608569
Joubert Syndrome 1
Chorioretinal coloboma, Macroglossia, Ataxia, Retinal dystrophy, Retinal dysplasia, Protruding to... OMIM:213300
Ciliary Dyskinesia, Primary, 18
Male infertility, Recurrent sinusitis, Immotile sperm OMIM:614874
Blepharophimosis, Ptosis, And Epicanthus Inversus
Amenorrhea, Irregular menstruation, Female infertility, High palate, Premature ovarian insufficiency OMIM:110100
Cardiomyopathy, Familial Hypertrophic, 16
Left bundle branch block, Asymmetric septal hypertrophy, Atrial fibrillation, Ventricular tachyca... OMIM:613838
Mercury Poisoning
Dystonia, Hypotension, Hypertension, Hypokalemia, Tachycardia ORPHA:330021
19P13.3 Microduplication Syndrome
Short philtrum, Narrow mouth, Hyperactivity, Thick vermilion border, Cleft palate, Pulmonary arte... ORPHA:447980
Late Infantile Neuronal Ceroid Lipofuscinosis
Inability to walk, Gait disturbance, Retinal degeneration, Ataxia, Hyperactivity ORPHA:168491
Ciliary Dyskinesia, Primary, 45
Male infertility OMIM:618801
Rasmussen Subacute Encephalitis
Inability to walk, Hemidystonia, Attention deficit hyperactivity disorder, Hyperactivity ORPHA:1929
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypocalcemia, Hypomagnesemia, Male infertility, Hyperphosphatemia, Hypocalcemic seizures ORPHA:2239
Guanidinoacetate Methyltransferase Deficiency
Dystonia, Athetosis, Ataxia, Hyperactivity ORPHA:382
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Hyperactivity OMIM:615286
Gomez-Lopez-Hernandez Syndrome
Thin vermilion border, Smooth philtrum, Ataxia, Hyperactivity, High palate, Malar flattening OMIM:601853
Gitelman Syndrome
Palpitations, Hypotension, Ataxia, Ventricular tachycardia, Increased circulating renin level, Hy... OMIM:263800
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Short philtrum, Open mouth, Dental crowding, Deep philtrum, Thin upper lip vermilion, Hyperactivi... OMIM:309520
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Macroglossia, Open mouth, Downturned corners of mouth, Mandibular prognathia, Wide mouth, Ataxia,... ORPHA:369891
Chromosome 13Q33-Q34 Deletion Syndrome
Delayed eruption of teeth, Short philtrum, Open mouth, Tented upper lip vermilion, Irregular dent... OMIM:619148
Atrial Septal Defect, Ostium Secundum Type
Atrial flutter, Abnormal left ventricular function, Tricuspid regurgitation, Pulmonary arterial h... ORPHA:99103
Cardiomyopathy, Familial Hypertrophic, 17
Palpitations, Cardiomyopathy, Ventricular tachycardia OMIM:613873
Hyperinsulinism Due To Hnf4A Deficiency
Hypophosphatemic rickets, Lethargy, Tachycardia, Abnormal circulating fatty-acid concentration ORPHA:263455
Neurodegeneration With Brain Iron Accumulation 1
Dystonia, Akinesia, Pigmentary retinopathy, Dysphagia, Gait disturbance, Blepharospasm, Ataxia, B... OMIM:234200
Pheochromocytoma
Positive regitine blocking test, Episodic hypertension, Cerebral hemorrhage, Tachycardia, Congest... OMIM:171300
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Inability to walk, Macroglossia, Abnormality of retinal pigmentation, Thick vermilion border, Tri... ORPHA:505248
Cardiomyopathy, Dilated, 1Y
Dilated cardiomyopathy, Mitral regurgitation, Congestive heart failure, Ventricular tachycardia OMIM:611878
Double Outlet Right Ventricle
Hypocalcemia, Narrow mouth, Pulmonic stenosis, Heart murmur, Tachycardia, Cleft palate, Cyanosis,... ORPHA:3426
16P11.2P12.2 Microdeletion Syndrome
Arrhythmia, Open mouth, Microretrognathia, Tricuspid regurgitation, Oral cleft, Hyperactivity ORPHA:261211
Stankiewicz-Isidor Syndrome
Retrognathia, Micrognathia, Abnormality of the optic disc, Hyperactivity OMIM:617516
Seckel Syndrome 1
Enamel hypoplasia, Dental crowding, Selective tooth agenesis, Cleft palate, Hyperactivity, High p... OMIM:210600
13Q12.3 Microdeletion Syndrome
Thin upper lip vermilion, Oligodontia, Malar flattening, Hyperactivity ORPHA:412035
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Palpitations, Hypokalemia, Tachycardia OMIM:188580
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Palpitations, Hypokalemia, Tachycardia OMIM:613239
Abnormal Hair, Joint Laxity, And Developmental Delay
Mitral regurgitation, Microdontia, Sinus bradycardia, Tricuspid regurgitation OMIM:261990
Ciliary Dyskinesia, Primary, 14
Male infertility, Immotile sperm, Reduced sperm motility, Chronic sinusitis OMIM:613807
Hypomagnesemia, Seizures, And Mental Retardation 2
Hypomagnesemia, Hypokalemia, Hyperactivity OMIM:618314
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Open mouth, Downturned corners of mouth, Ataxia, Tented upper lip vermilion, Thin upper lip vermi... OMIM:618430
7Q11.23 Microduplication Syndrome
Thin vermilion border, Short philtrum, Polyphagia, Drooling, Diastema, Dental malocclusion, Abnor... ORPHA:96121
Ethylene Glycol Poisoning
Hypocalcemia, Hypotension, Atrial fibrillation, Hypertension, Ataxia, Congestive heart failure, T... ORPHA:31826
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Short philtrum, Gait ataxia, Mandibular prognathia, Thin upper lip vermilion, Hyperactivity OMIM:300486
X-Linked Adrenoleukodystrophy
Gait disturbance, Impotence, Attention deficit hyperactivity disorder, Hyperactivity ORPHA:43
Adenylosuccinase Deficiency
Inability to walk, Long philtrum, Gait ataxia, Wide mouth, Smooth philtrum, Thin upper lip vermil... OMIM:103050
Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type
Bradycardia, Paroxysmal supraventricular tachycardia OMIM:601375
X-Linked Intellectual Disability, Cabezas Type
Open bite, Short philtrum, Wide mouth, Hyperactivity, High palate, Hypogonadism, Thick lower lip ... ORPHA:85293
Mucopolysaccharidosis, Type Iiia
Asymmetric septal hypertrophy, Hyperactivity OMIM:252900
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Hyperactivity OMIM:615824
Aromatase Deficiency
Hypergonadotropic hypogonadism, Primary amenorrhea, Female infertility, Male infertility, Hyperli... ORPHA:91
Cutis Laxa, Autosomal Recessive, Type Ib
Prominence of the premaxilla, Pulmonary insufficiency, High palate, Micrognathia, Bradycardia OMIM:614437
Hydroxykynureninuria
Hypotension, Tachycardia, Stomatitis, Abnormal circulating tryptophan concentration ORPHA:79155
Severe Generalized Junctional Epidermolysis Bullosa
Enamel hypoplasia, Erosion of oral mucosa, Abnormal blood ion concentration, Abnormal oral mucosa... ORPHA:79404
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Delayed eruption of teeth, Oligodontia, Narrow palate, Narrow mouth, Conical incisor, Smooth phil... OMIM:235510
Turner Syndrome Due To Structural X Chromosome Anomalies
Premature ovarian insufficiency, High, narrow palate, Abnormality of the dentition, Hypertension,... ORPHA:99413
Turner Syndrome
Premature ovarian insufficiency, High, narrow palate, Abnormality of the dentition, Hypertension,... ORPHA:881
Mosaic Monosomy X
Premature ovarian insufficiency, High, narrow palate, Abnormality of the dentition, Hypertension,... ORPHA:99228
Monosomy X
Premature ovarian insufficiency, High, narrow palate, Abnormality of the dentition, Hypertension,... ORPHA:99226
Fructose-1,6-Bisphosphatase Deficiency
Lethargy, Tachycardia OMIM:229700
Drug-Induced Autoimmune Hemolytic Anemia
Increased total bilirubin, Congestive heart failure, Tachycardia ORPHA:90037
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Eisenmenger Syndrome
Ventricular arrhythmia, Hyperuricemia, Tricuspid regurgitation, Elevated circulating C-reactive p... ORPHA:97214
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities
Mandibular prognathia, Abnormality of the dentition, Wide mouth, Thick vermilion border, Hyperact... OMIM:618505
Mucopolysaccharidosis Type 3
Reduced ejection fraction, Macroglossia, Pigmentary retinopathy, Craniofacial hyperostosis, Dysph... ORPHA:581
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Long philtrum, Open mouth, Gait disturbance, Wide mouth, Hyperactivity ORPHA:457485
Mucopolysaccharidosis, Type Iiib
Asymmetric septal hypertrophy, Hyperactivity OMIM:252920
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Sinus bradycardia OMIM:126320
Mucopolysaccharidosis Type 2
Macroglossia, Arrhythmia, Abnormality of retinal pigmentation, Temporomandibular joint ankylosis,... ORPHA:580
Dubowitz Syndrome
Delayed eruption of teeth, Carious teeth, Agenesis of permanent teeth, Hyperactivity, High palate... OMIM:223370
Symptomatic Form Of Fragile X Syndrome In Female Carrier
Attention deficit hyperactivity disorder, Mandibular prognathia, Hypertension, Hyperactivity ORPHA:449291
Malignant Hyperthermia Of Anesthesia
Hypercapnia, Ventricular extrasystoles, Ventricular tachycardia, Elevated creatine kinase after e... ORPHA:423
White-Sutton Syndrome
Short philtrum, Narrow mouth, Downturned corners of mouth, Open mouth, Thin upper lip vermilion, ... ORPHA:468678
Hyperlysinemia
Hypoornithinemia, Dysphagia, Smooth philtrum, Hyperlysinemia, Dysmetria, Hyperactivity, High pala... ORPHA:2203
Congenital Fibrinogen Deficiency
Gingival bleeding, Cyanosis, Tachycardia, Internal hemorrhage ORPHA:335
Brain-Lung-Thyroid Syndrome
Abnormal drinking behavior, Dystonia, Ataxia, Hypodontia, Abnormal eating behavior, Falls, Hypera... ORPHA:209905
Monosomy 9Q22.3
Long philtrum, Delayed eruption of teeth, Narrow mouth, Odontogenic keratocysts of the jaw, Oral ... ORPHA:77301
Relapsing Fever
Increased total bilirubin, Hypotension, Elevated circulating creatinine concentration, Epistaxis,... ORPHA:91547
Brugada Syndrome 8
Right bundle branch block, ST segment elevation, Ventricular tachycardia OMIM:613123
Hereditary Coproporphyria
Hyponatremia, Tachycardia, Abnormal circulating porphyrin concentration ORPHA:79273
Renal Nutcracker Syndrome
Infertility, Orthostatic hypotension, Dyspareunia, Tachycardia, Dysmenorrhea, Syncope ORPHA:71273
Tularemia
Oral ulcer, Tachycardia ORPHA:3392
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Acrocyanosis, Increased blood urea nitrogen, Orthostatic hypotension, Elevated circulating creati... OMIM:223900
Paragangliomas 3
Palpitations, Tachycardia, Hypertension associated with pheochromocytoma OMIM:605373
Chromosome 10Q26 Deletion Syndrome
Long philtrum, Thin upper lip vermilion, Hyperactivity, Micrognathia, Broad-based gait OMIM:609625
Bacterial Toxic-Shock Syndrome
Hypocalcemia, Hypotension, Elevated circulating creatinine concentration, Sinusitis, Tachycardia,... ORPHA:36234
Short Qt Syndrome 3
Shortened QT interval, Palpitations, Tachycardia OMIM:609622
Hyperthyroidism, Familial Gestational
Tachycardia OMIM:603373
Spastic Paraplegia 29, Autosomal Dominant
Neonatal hyperbilirubinemia, Hyperactivity OMIM:609727
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Male hypogonadism, Irregular menstruation, Hypertension, Primary amenorrhea, Decreased circulatin... ORPHA:90793
Paragangliomas 1
Palpitations, Tachycardia, Hypertension associated with pheochromocytoma OMIM:168000
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Tachycardia, Hypertension OMIM:613870
Mixed-Type Autoimmune Hemolytic Anemia
Increased total bilirubin, Tachycardia ORPHA:90036
Tetrasomy 9P
Abnormal chorioretinal morphology, Median cleft lip and palate, Abnormal dental enamel morphology... ORPHA:3310
Bloom Syndrome
Premature ovarian insufficiency, Retinopathy, Azoospermia, Oligospermia, Cheilitis, Male infertil... ORPHA:125
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Short philtrum, Oligomenorrhea, Hypergonadotropic hypogonadism, Streak ovary, Female infertility,... ORPHA:572333