Gene Summary

Name:
arginine glutamic acid dipeptide (RE) repeats
Synonyms:
1110033A15Rik,  atrophin-2,  Atr2,  eyem03Jus eyes3

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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
increased circulating amylase level RereRere HET Early adult 5.61×10-05
increased circulating phosphate level RereRere HET   Early adult 2.46×10-05
increased IgG2b level RereRere HET Early adult 2.47×10-05
increased IgG1 level RereRere HET Early adult 8.39×10-05

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Rere 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.

The table below shows human diseases associated to Rere by orthology or direct annotation.

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Genitopalatocardiac Syndrome
Ventricular septal defect, Double outlet right ventricle, Renal cyst, Hypospadias, Right aortic a... OMIM:231060
Tricuspid Atresia
Tricuspid atresia, Atrial septal defect, Ventricular septal defect, Pulmonary artery atresia, Per... ORPHA:1209
Heterotaxy, Visceral, 4, Autosomal
Atrioventricular canal defect, Dextrocardia, Right aortic arch, Ventricular septal defect OMIM:613751
Atrioventricular Septal Defect, Susceptibility To, 2
Atrioventricular canal defect, Dextrocardia, Right aortic arch with mirror image branching, Pulmo... OMIM:606217
Congenital Heart Defects, Multiple Types, 6
Hypoplastic pulmonary veins, Single ventricle, Ventricular septal defect, Complete atrioventricul... OMIM:613854
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Truncus arteriosus, Bulbous nose, Patent ductus arteriosus, Bicuspid aortic valve, Coarctation of... OMIM:612474
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Anomalous origin of left coronary artery from the pulmonary artery, Bilateral renal agenesis, Pat... OMIM:618845
Conotruncal Heart Malformations
Truncus arteriosus, Complete atrioventricular canal defect, Double outlet right ventricle, Coarct... OMIM:217095
Retinal Telangiectasia And Hypogammaglobulinemia
Decreased circulating IgG level, Reduced delayed hypersensitivity OMIM:267900
16P13.11 Microduplication Syndrome
Atrial septal defect, Ventricular septal defect, Coarctation of aorta, Tetralogy of Fallot, Trans... ORPHA:261243
Congenital Heart Defects, Multiple Types, 7
Aortopulmonary collateral arteries, Double aortic arch, Pulmonic stenosis, Absence of the pulmona... OMIM:618780
Histiocytosis, Familial Lipochrome
Increased circulating antibody level, Increased alpha-globulin OMIM:235900
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation
Right aortic arch with mirror image branching OMIM:107500
Pulmonary Atresia With Intact Ventricular Septum
Pulmonary artery atresia, Hypoplastic right heart OMIM:265150
Fallot Complex With Severe Mental And Growth Retardation
Pulmonic stenosis, Tetralogy of Fallot, Double outlet right ventricle, Ventricular septal defect OMIM:601127
Autosomal Dominant Coarctation Of Aorta
Ventricular septal defect, Abnormal aortic arch morphology, Patent ductus arteriosus, Hypoplastic... ORPHA:1455
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Underdeveloped nasal alae, Truncus arteriosus, Unilateral renal agenesis, Ventricular septal defect OMIM:601355
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Multiple renal cysts, Ventricular septal defect, Abnormal aortic morphology, Vesicoureteral reflu... ORPHA:1166
Pseudohypoparathyroidism, Type Ii
Hypocalcemia, Hyperphosphatemia OMIM:203330
Heart Defects-Limb Shortening Syndrome
Atrial septal defect, Abnormal mitral valve morphology, Abnormal tricuspid valve morphology, Vent... ORPHA:1354
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Cardiac Septal Defects With Coarctation Of The Aorta
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta OMIM:212090
Hyperimmunoglobulin G1(A1) Syndrome
Increased circulating IgG level, Increased circulating IgA level OMIM:144120
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta, A... OMIM:615779
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia, Ventricular septal defect OMIM:178370
Pulmonary Atresia-Intact Ventricular Septum Syndrome
Pulmonary artery atresia, Patent ductus arteriosus, Abnormal tricuspid valve morphology ORPHA:1208
Heterotaxy, Visceral, 8, Autosomal
Unbalanced atrioventricular canal defect, Ventricular septal defect, Atrial situs ambiguous, Doub... OMIM:617205
Aorta Coarctation
Abnormal left ventricular outflow tract morphology, Aortic valve atresia, Patent ductus arteriosu... ORPHA:1457
Heterotaxy, Visceral, 7, Autosomal
Atrial septal defect, Situs inversus totalis, Interrupted aortic arch, Abnormal tricuspid valve m... OMIM:616749
Pentosuria
Abnormality of circulating enzyme level, Abnormal circulating carbohydrate concentration ORPHA:2843
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Anomalous origin of right pulmonary artery from ascending aorta, Atrial septal defect, Ventricula... ORPHA:99050
Diabetic Embryopathy
Ventricular septal defect, Abnormal aortic morphology, Ureteral duplication, Hydronephrosis, Abno... ORPHA:1926
Macrosomia With Microphthalmia, Lethal
Large for gestational age, Microphthalmia OMIM:248110
Cayler Cardiofacial Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect OMIM:125520
Distal Trisomy 14Q
Abnormal lung lobation, Abnormal aortic morphology, Patent ductus arteriosus, Abnormality of the ... ORPHA:1705
Immunoerythromyeloid Hypoplasia
Decreased circulating IgG level OMIM:242880
Right Atrial Isomerism
Right atrial isomerism, Situs inversus totalis, Single ventricle, Atrial septal defect, Ventricul... OMIM:208530
Meacham Syndrome
Pulmonary sequestration, Abnormal lung lobation, Anomalous pulmonary venous return, Atrial septal... ORPHA:3097
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Pseudocoarctation of the aorta, Patent ductus arteriosus, Bicuspid aortic valve ORPHA:228190
Coarctation Of Aorta
Hypoplastic left heart, Coarctation of aorta OMIM:120000
Immunodeficiency 24
Partial absence of specific antibody response to tetanus vaccine, Defective T cell proliferation,... OMIM:615897
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Cerebellar hypoplasia, Polymicrogyria, Cortical dysplasia, Microphthalmia, Microcephaly OMIM:615771
22Q11.2 Duplication Syndrome
Interrupted aortic arch, Ventricular septal defect, Abnormality of the pharynx, Urethral stenosis... ORPHA:1727
Truncus Arteriosus
Abnormal coronary artery morphology, Patent ductus arteriosus, Cardiomegaly, Pulmonary artery ste... ORPHA:3384
Microphthalmia, Syndromic 9
Right aortic arch with mirror image branching, Atrial septal defect, Truncus arteriosus, Single v... OMIM:601186
Congenital Heart Defects, Multiple Types, 5
Atrial septal defect, Ventricular septal defect, Aortic valve stenosis, Double outlet right ventr... OMIM:617912
Hepatic Venoocclusive Disease With Immunodeficiency
Decreased circulating IgG level OMIM:235550
Ciliary Dyskinesia, Primary, 37
Dextrocardia, Right aortic arch, Situs inversus totalis, Bronchiectasis OMIM:617577
Pseudohypoparathyroidism Type 2
Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia ORPHA:94090
Transposition Of The Great Arteries, Dextro-Looped 1
Transposition of the great arteries OMIM:608808
Malignant Hyperthermia, Susceptibility To, 2
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia OMIM:154275
Congenital Absence Of Upper Arm And Forearm With Hand Present
Abnormal lung morphology, Congenital malformation of the great arteries, Abnormal heart morpholog... ORPHA:294975
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypomagnesemia, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:2239
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Pseudocoarctation of the aorta, Patent ductus arteriosus, Bicuspid aortic valve OMIM:604381
Auditory Neuropathy, Autosomal Dominant, 1
Absence of acoustic reflex, Abnormal auditory evoked potentials, Sensorineural hearing impairment... OMIM:609129
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Fetal Trimethadione Syndrome
Atrial septal defect, Short nose, Ventricular septal defect, Hypospadias, Tetralogy of Fallot, Tr... ORPHA:1913
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemia, Hyperphosphatemia OMIM:146200
Congenital unilateral pulmonary hypoplasia
Abnormality of the pulmonary artery, Anomalous pulmonary venous return, Aplasia/Hypoplasia of the... ORPHA:2258
Structural Heart Defects And Renal Anomalies Syndrome
Tricuspid atresia, Atrial septal defect, Truncus arteriosus, Interrupted aortic arch, Ventricular... OMIM:617478
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Malignant Hyperthermia, Susceptibility To, 3
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia OMIM:154276
Immunodeficiency With Hyper-Igm, Type 3
Impaired memory B cell generation, Increased circulating IgM level, Decreased circulating IgE, De... OMIM:606843
Ciliary Dyskinesia, Primary, 39
Dextrocardia, Double outlet right ventricle, Recurrent lower respiratory tract infections, Bronch... OMIM:618254
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency
Atrial septal defect, Ventricular septal defect, Abnormality of the larynx, Patent ductus arterio... OMIM:608406
Long Qt Syndrome 16
Perimembranous ventricular septal defect, Patent ductus arteriosus after birth at term OMIM:618782
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Abnormal heart morphology, Patent ductus arteriosus, Pulmonic stenosis, Double outlet right ventr... OMIM:618164
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Pulmonary artery atres... OMIM:618316
Pseudohypoparathyroidism, Type Ib
Hypocalcemia, Hyperphosphatemia OMIM:603233
Hypoplastic Left Heart Syndrome
Atrial septal defect, Mitral atresia, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplas... ORPHA:2248
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Decreased circulating IgG level OMIM:242870
Hypoplastic Left Heart Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta OMIM:241550
Heterotaxy, Visceral, 5, Autosomal
Dextrocardia, Atrial septal defect, Transposition of the great arteries, Ventricular septal defect OMIM:270100
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Peripheral pulmonary artery stenosis, Ventricular septal defect OMIM:617992
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Unilateral renal agene... OMIM:618142
8P23.1 Microdeletion Syndrome
Short nose, Abnormal aortic morphology, Patent ductus arteriosus, Wide nasal bridge, Abnormal car... ORPHA:251071
Scimitar Syndrome
Single ventricle, Patent ductus arteriosus, Bronchogenic cyst, Dextrocardia, Left superior vena c... ORPHA:185
Chudley-Mccullough Syndrome
Hypoplasia of the corpus callosum, Cerebellar dysplasia, Cerebellar hypoplasia, Severe sensorineu... OMIM:604213
Lymphoid System Deterioration, Progressive
Decreased circulating total IgM, Decreased circulating IgG level OMIM:247630
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Urethral atresia, Enlarged kidney, Hydronephrosis, Atrioventricular canal defect, Tracheoesophage... OMIM:314390
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex OMIM:601071
Testicular Anomalies With Or Without Congenital Heart Disease
Perineal hypospadias, Tetralogy of Fallot, Microphallus, Micropenis OMIM:615542
Thymic Aplasia With Fetal Death
Renal agenesis, Pulmonary hypoplasia, Truncus arteriosus, Ureteral agenesis OMIM:274210
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Malignant Hyperthermia, Susceptibility To, 1
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia OMIM:145600
Immunodeficiency, Common Variable, 5
Chronic decreased circulating total IgG OMIM:613495
Immunodeficiency, Common Variable, 4
Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ... OMIM:613494
Partial Atrioventricular Septal Defect
Anomalous pulmonary venous return, Abnormal tricuspid valve morphology, Coarctation of aorta, Pat... ORPHA:1330
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Kallmann Syndrome-Heart Disease Syndrome
Anomalous origin of left coronary artery from the pulmonary artery, Pulmonary artery hypoplasia, ... ORPHA:2326
Aorto-Ventricular Tunnel
Abnormal coronary artery morphology, Ventricular hypertrophy, Abnormal heart valve morphology, Ab... ORPHA:3400
Hyperphosphatemia, Polyuria, And Seizures
Hyperphosphatemia OMIM:239350
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Atrial septal defect, Horseshoe kidney, Abnormal heart morphology, Patent ductus arteriosus, Recu... ORPHA:363444
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Increased circulating IgE level, Reduced C-reactive protein level, Increased circulating interleu... OMIM:618944
Johnson Neuroectodermal Syndrome
Micropenis, Right aortic arch, Patent ductus arteriosus, Ventricular septal defect OMIM:147770
Ventricular Septal Defect 3
Atrial septal defect, Patent ductus arteriosus, Pulmonary artery stenosis, Ventricular septal defect OMIM:614432
Lymphoma, Hodgkin, Classic
Polyclonal elevation of IgM OMIM:236000
Gombo Syndrome
Microcephaly, Delayed puberty, Microphthalmia OMIM:233270
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Cerebral atrophy, Cerebellar atrophy, Microphthalmia, Short stature, Simplified gyral pattern, In... OMIM:616171
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Right aortic arch, Coarctation of aorta OMIM:140850
Ravine Syndrome
Failure to thrive, Abnormal auditory evoked potentials, Abnormality of the basal ganglia, Decreas... ORPHA:99852
Infections, Recurrent, With Encephalopathy, Hepatic Dysfunction, And Cardiovascular Malformations
Pulmonary artery atresia, Left superior vena cava draining directly to the left atrium, Ventricul... OMIM:613759
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia
Tetralogy of Fallot, Hypoplastic right heart, Ventricular septal defect OMIM:601348
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Tracheal atresia, Patent ductus arteriosus, Bilateral lung agenesis, Coarctation of aorta, Abnorm... OMIM:601612
Megabladder, Congenital
Atrial septal defect, Left ventricular noncompaction cardiomyopathy, Hyperechogenic kidneys, Vent... OMIM:618719
Primary Ciliary Dyskinesia
Abnormal sputum, Anomalous pulmonary venous return, Respiratory tract infection, Situs inversus t... ORPHA:244
Immunodeficiency With Hyper-Igm, Type 5
Impaired Ig class switch recombination, Increased circulating IgM level, Decreased circulating Ig... OMIM:608106
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Atrial septal defect, Broad nasal tip, Ventricular septal defect, Patent ductus arteriosus, Overr... OMIM:601927
Congenital Heart Defects, Multiple Types, 2
Abnormal left ventricular outflow tract morphology, Subvalvular aortic stenosis, Ventricular sept... OMIM:614980
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Mild short stature, Decreased body weight, Dysplastic corpus callosum, Cerebellar atrophy, Polymi... OMIM:614833
Neurofaciodigitorenal Syndrome
Bifid nose, Unilateral renal agenesis, Midline defect of the nose OMIM:256690
Oligomeganephronia
Decreased numbers of nephrons, Proteinuria, Secundum atrial septal defect, Unilateral renal agene... ORPHA:2260
Double Outlet Right Ventricle
Truncus arteriosus, Ventricular septal defect, Pulmonic stenosis, Double outlet right ventricle, ... ORPHA:3426
Heart Defects, Congenital, And Other Congenital Anomalies
Hypoplastic tricuspid valve, Truncus arteriosus, Atrial septal defect, Interrupted aortic arch, V... OMIM:600001
Inverted Duplicated Chromosome 15 Syndrome
Tetralogy of Fallot, Unilateral renal agenesis, Broad nasal tip, Ventricular septal defect ORPHA:3306
Atrial Septal Defect 4
Patent foramen ovale, Atrial septal defect, Coarctation of aorta OMIM:611363
Nanophthalmos 4
Microphthalmia OMIM:615972
Ritscher-Schinzel Syndrome 1
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis, Aortic valve stenosis, Double... OMIM:220210
Fadd-Related Immunodeficiency
Pulmonary artery atresia, Ventricular septal defect ORPHA:306550
Heterotaxy, Visceral, 1, X-Linked
Atrial septal defect, Horseshoe kidney, Single ventricle, Ventricular septal defect, Mitral atres... OMIM:306955
Hadziselimovic Syndrome
Prominent nasal bridge, Atrial septal defect, Ventricular hypertrophy, Ventricular septal defect,... OMIM:612946
14Q24.1Q24.3 Microdeletion Syndrome
Atrial septal defect, Truncus arteriosus, Short nose, Ventricular septal defect, Abnormal heart m... ORPHA:401935
Dihydropyrimidine Dehydrogenase Deficiency
Growth delay, Cerebral atrophy, Microphthalmia, Failure to thrive, Microcephaly, Optic atrophy, A... OMIM:274270
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Igg4-Related Aortitis
Abnormal aortic arch morphology, Thoracic aortic aneurysm, Abnormal common carotid artery morphol... ORPHA:449400
Ventricular Septal Defect 2
Perimembranous ventricular septal defect OMIM:614431
Recombinant Chromosome 8 Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Dou... OMIM:179613
Aortic Aneurysm, Familial Thoracic 7
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection, Aortic rupture OMIM:613780
Criss-Cross Heart
Ventricular septal defect, Abnormal mitral valve morphology, Pulmonic stenosis, Tricuspid stenosi... ORPHA:1461
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Polyclonal elevation of IgM, Monoclonal immunoglobulin M proteinemia OMIM:153600
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Klippel-Trénaunay Syndrome
Atrial septal defect, Hematuria, Abnormal tricuspid valve morphology, Patent ductus arteriosus, P... ORPHA:90308
Immunodeficiency 25
Increased circulating IgM level, Increased circulating IgE level, Decreased circulating IgG2 leve... OMIM:610163
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Renal agenesis, Truncus arteriosus, Underdeveloped nasal alae, Ventricular septal defect, Abnorma... ORPHA:2516
Heterotaxy, Visceral, 2, Autosomal
Situs inversus totalis, Dextrocardia, Double outlet right ventricle, Mesocardia, Left atrial isom... OMIM:605376
Cerebrooculofacioskeletal Syndrome 3
Intrauterine growth retardation, Microcephaly, Microphthalmia, Low-set ears OMIM:616570
Heterotaxy, Visceral, 6, Autosomal
Dextrocardia, Transposition of the great arteries OMIM:614779
Thoracoabdominal Syndrome
Patent ductus arteriosus, Ectopia cordis, Pulmonary hypoplasia, Hypospadias, Renal agenesis, Tran... OMIM:313850
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Short nose, Pulmonic stenosis, Perimembranous ventricular septal defect, Anteverted nares, Transp... OMIM:617877
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Ventricular septal defect, Secundum atrial septal defect, Left ventricular hypertrophy, Pulmonary... OMIM:108900
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Congenital Rubella Syndrome
Abnormality of the pulmonary artery, Atrial septal defect, Patent ductus arteriosus, Ventricular ... ORPHA:290
Renal Hypoplasia
Abnormal renal tubule morphology, Abnormal renal morphology, Decreased numbers of nephrons, Ureth... ORPHA:93101
Familial Aortic Dissection
Descending thoracic aorta aneurysm, Carotid artery dilatation, Patent ductus arteriosus, Coronary... ORPHA:229
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microcephaly, Microphthalmia OMIM:616335
Mungan Syndrome
Renal hypoplasia, Pulmonic stenosis, Vesicoureteral reflux, Perimembranous ventricular septal defect OMIM:611376
Aortic Aneurysm, Familial Thoracic 4
Ascending aortic dissection, Patent ductus arteriosus, Posterior cerebral artery stenosis, Corona... OMIM:132900
Renal Tubular Dysgenesis
Multiple renal cysts, Proximal tubulopathy, Renotubular dysgenesis, Nephropathy, Pulmonary hypopl... ORPHA:3033
Immunodeficiency With Hyper-Igm, Type 2
Impaired Ig class switch recombination, Decreased circulating IgG level, Decreased circulating Ig... OMIM:605258
Hypophosphatemia, Renal, With Intracerebral Calcifications
Renal hypophosphatemia OMIM:241519
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
Microphthalmia, Isolated, With Coloboma 6
Optic disc hypoplasia, Hypoplasia of the fovea, Bilateral microphthalmos OMIM:613703
Dextrocardia
Abnormal renal morphology, Situs inversus totalis, Congenital malformation of the great arteries,... ORPHA:1666
Immunodeficiency, Common Variable, 7
Reduced isohemagglutinin level, Decreased circulating total IgG, Decreased circulating IgA level,... OMIM:614699
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Atrial septal defect, Patent ductus arteriosus, Wide nasal bridge, Pulmonic stenosis, Double outl... ORPHA:3304
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Recurrent lower respiratory tract infections, Cardiomegaly OMIM:619170
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Interrupted aortic arch, Coarctation of aorta OMIM:107550
Cofs Syndrome
Aplasia/Hypoplasia of the cerebellum, Cerebral cortical atrophy, Sensorineural hearing impairment... ORPHA:1466
Right Pulmonary Artery, Anomalous Origin Of, Familial
Anomalous origin of right pulmonary artery from ascending aorta, Ventricular septal defect, Paten... OMIM:610338
Isotretinoin-Like Syndrome
Abnormality of the pulmonary veins, Thin anteverted nares, Abnormal aortic arch morphology, Paten... ORPHA:2306
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Patent foramen ovale, Bulbous nose, Transposition of the great arteries, Depressed nasal bridge OMIM:616789
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Overriding aorta, Atrial septal defect, Abnormal renal morphology, Ventricular septal defect, Abn... ORPHA:477817
Fibromuscular Dysplasia, Arterial
Renovascular hypertension, Arterial fibromuscular dysplasia, Aortic dissection OMIM:135580
Warburg Micro Syndrome 1
Macrotia, Hypoplasia of the corpus callosum, Cerebellar vermis hypoplasia, Cerebellar hypoplasia,... OMIM:600118
Immunodeficiency 43
Hypoproteinemia, Decreased circulating IgG level, Hypoalbuminemia OMIM:241600
Maternal Phenylketonuria
Abnormal renal morphology, Ventricular septal defect, Abnormal heart morphology, Wide nasal bridg... ORPHA:2209
Renal Agenesis
Renal insufficiency, Aplasia/Hypoplasia of the bladder, Ventricular septal defect, Bilateral rena... ORPHA:411709
Tetralogy Of Fallot
Tetralogy of Fallot OMIM:187500
Velocardiofacial Syndrome
Right aortic arch with mirror image branching, Bulbous nose, Interrupted aortic arch, Ventricular... OMIM:192430
Waardenburg Syndrome Type 2
Abnormality of the pulmonary artery, Abnormality of the kidney ORPHA:895
Hyperphosphatasia With Mental Retardation Syndrome 3
Hyperphosphatemia OMIM:614207
Craniotelencephalic Dysplasia
Low-set, posteriorly rotated ears, Arrhinencephaly, Cerebellar hypoplasia, Septo-optic dysplasia,... ORPHA:1528
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level OMIM:233650
Immunodeficiency 72 With Autoinflammation
Increased circulating IgG level, Increased circulating IgE level OMIM:618982
Atrial Septal Defect 2
Atrioventricular canal defect, Atrial septal defect, Ventricular septal defect OMIM:607941
Isolated Growth Hormone Deficiency, Type V
Postnatal growth retardation, Truncal obesity, Short stature, Abdominal obesity, Microcephaly, De... OMIM:618160
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Renal agenesis, Horseshoe kidney, Bifid ureter, Abnormal heart morphology, Decreased numbers of n... OMIM:617641
Abcd Syndrome
Abnormal auditory evoked potentials, Hearing impairment, Large for gestational age, Aganglionic m... OMIM:600501
Thakker-Donnai Syndrome
Bulbous nose, Ventricular septal defect, Hydronephrosis, Tetralogy of Fallot, Anteverted nares, T... ORPHA:1780
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Polyendocrine-Polyneuropathy Syndrome
Cerebellar hypoplasia, Progressive hearing impairment, Short stature, Postnatal growth retardation OMIM:616113
8P23.1 Duplication Syndrome
Ventricular septal defect, Pulmonic stenosis, Hydronephrosis, Tetralogy of Fallot, Wide nose ORPHA:251076
Alagille Syndrome 2
Atrial septal defect, Hematuria, Renal hypoplasia, Peripheral pulmonary artery stenosis, Renal tu... OMIM:610205
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemia, Hypophosphatemic rickets OMIM:241520
Aortic Aneurysm, Familial Thoracic 8
Coronary artery aneurysm, Coronary artery dissection, Descending aortic dissection, Ascending aor... OMIM:615436
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Large for gestational age, Microphthalmia ORPHA:2432
Neural Tube Defects, X-Linked
Spina bifida, Anencephaly OMIM:301410
Anencephaly 1
Spina bifida, Anencephaly OMIM:206500
Aortic Aneurysm, Familial Thoracic 6
Moyamoya phenomenon, Aortic aneurysm, Premature coronary artery atherosclerosis, Thoracic aortic ... OMIM:611788
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Hypoplastic tricuspid valve, Atrial septal defect, Interrupted aortic arch, Ventricular septal de... ORPHA:2255
Autoimmune Hypoparathyroidism
Hypocalcemic tetany, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:36913
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia OMIM:251505
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level OMIM:221700
Congenitally Corrected Transposition Of The Great Arteries
Single ventricle, Patent ductus arteriosus, Atrial situs ambiguous, Dextrocardia, Gerbode ventric... ORPHA:216694
Aortic Valve Disease 1
Mitral atresia, Ventricular septal defect, Aortic valve stenosis, Double outlet right ventricle, ... OMIM:109730
Immunodeficiency, Common Variable, 14
Defective B cell differentiation, Decreased specific antibody response to vaccination, Decreased ... OMIM:617765
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, And Cerebellar Atrophy
Postnatal growth retardation, Cerebellar atrophy, Cortical dysplasia, Short stature, Microcephaly OMIM:608278
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hypercalcemia, Hyperphosphatemia OMIM:617994
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Atrial septal defect, Vascular ring, Ventricular septal defect OMIM:603387
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Neutropenia, Chronic Familial
Increased circulating antibody level OMIM:162700
Craniotelencephalic Dysplasia
Absent septum pellucidum, Arrhinencephaly, Cerebellar hypoplasia, Optic nerve hypoplasia, Microph... OMIM:218670
Emanuel Syndrome
Atrial septal defect, Truncus arteriosus, Ventricular septal defect, Renal hypoplasia, Patent duc... ORPHA:96170
Congenital Disorder Of Glycosylation, Type Iil
Atrial septal defect, Ventricular septal defect, Proximal tubulopathy, Patent ductus arteriosus, ... OMIM:614576
Calciphylaxis
Hyperphosphatemia ORPHA:280062
Ververi-Brady Syndrome
Bulbous nose, Wide nose, Broad nasal tip, Transposition of the great arteries, Prominent nose OMIM:617982
Frontal Encephalocele
Aplasia/Hypoplasia of the corpus callosum, Spina bifida, Hydrocephalus, Cerebral calcification ORPHA:1931
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Increased circulating IgM level, Increased circulating IgG level OMIM:619220
Congenital Total Pulmonary Venous Return Anomaly
Cardiac total anomalous pulmonary venous connection, Atrial septal defect, Single ventricle, Vent... ORPHA:99125
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Abnormal aortic arch morphology, Prominent nasal bridge, Arteriovenous malformation, Overriding a... ORPHA:1110
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Pachygyria, Cerebral atrophy, Cerebellar hypoplasia, Microphthalmia, Short stature, Simplified gy... OMIM:251270
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness
Unilateral renal agenesis OMIM:235740
Moyamoya Disease 5
Moyamoya phenomenon, Ascending tubular aorta aneurysm OMIM:614042
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, And Ear Anomalies Syndrome
Ventricular septal defect, Peripheral pulmonary artery stenosis, Duplicated collecting system, Wi... OMIM:280000
Immunodeficiency 64
Increased circulating IgM level, Defective T cell proliferation, Increased circulating IgG level,... OMIM:618534
Myeloma, Multiple
Paraproteinemia OMIM:254500
Weiss-Kruszka Syndrome
Short nose, Anteverted nares, Ventricular septal defect, Left ventricular hypertrophy, Bicuspid a... OMIM:618619
Candidiasis, Familial, 2
Decreased serum iron, Increased circulating IgE level OMIM:212050
Adams-Oliver Syndrome 4
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:615297
Phaver Syndrome
Ventricular septal defect, Hypoplastic aortic arch, Coarctation of aorta, Pulmonary artery atresi... ORPHA:2876
Tetralogy Of Fallot And Glaucoma
Tetralogy of Fallot OMIM:187501
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Spina bifida, Hypoplastic left heart, Anencephaly, Ventricular septal defect ORPHA:2476
Congenital Varicella Syndrome
Intrauterine growth retardation, Cerebral cortical atrophy, Microcephaly, Microphthalmia ORPHA:291
Immunodeficiency, Common Variable, 3
Chronic decreased circulating total IgG, Decreased circulating total IgM, Decreased circulating I... OMIM:613493
Supravalvular Aortic Stenosis
Pulmonic stenosis, Peripheral arterial stenosis, Pulmonary artery stenosis OMIM:185500
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Type II lissencephaly, Cerebellar cyst, Cerebellar dysplasia, Cerebellar hypoplasia, Polymicrogyr... OMIM:615181
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Phosphoribosylpyrophosphate Synthetase Superactivity
Renal insufficiency, Abnormal aortic morphology, Cardiomyopathy ORPHA:3222
Grange Syndrome
Patent ductus arteriosus, Arterial stenosis, Ventricular septal defect ORPHA:79094
Williams-Beuren Region Duplication Syndrome
Patent ductus arteriosus, Broad nasal tip, Unilateral renal agenesis, Hydronephrosis OMIM:609757
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Cerebrooculofacioskeletal Syndrome 1
Cerebellar hypoplasia, Sensorineural hearing impairment, Microphthalmia, Failure to thrive, Abnor... OMIM:214150
Methimazole Embryofetopathy
Ventricular septal defect, Abnormal aortic morphology, Choanal atresia, Coarctation of aorta, Hyp... ORPHA:1923
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Tetralogy of Fallot, Atrial septal defect, Situs inversus totalis OMIM:601322
Carpenter Syndrome 1
Atrial septal defect, Ventricular septal defect, Hydroureter, Patent ductus arteriosus, Pulmonic ... OMIM:201000
Pseudohypoparathyroidism Type 1B
Hypocalcemic tetany, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:94089
Autosomal Recessive Primary Microcephaly
Vesicoureteral reflux, Unilateral renal agenesis ORPHA:2512
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating total IgM, Decreased circulating IgG level OMIM:618987
Lambert Syndrome
Branchial anomaly, Ventricular septal defect ORPHA:1296
Cardiomyopathy, Dilated, 1S
Pulmonary artery hypoplasia, Bicuspid aortic valve, Coarctation of aorta, Dilated cardiomyopathy,... OMIM:613426
Holzgreve Syndrome
Renal hypoplasia, Renal agenesis, Hypoplastic left heart OMIM:236110
Microgastria-Limb Reduction Defects Association
Horseshoe kidney, Cystic renal dysplasia, Secundum atrial septal defect, Unilateral renal agenesi... OMIM:156810
Polymicrogyria, Perisylvian, With Cerebellar Hypoplasia And Arthrogryposis
Cerebellar dysplasia, Polymicrogyria, Cerebellar hypoplasia OMIM:616531
Aortic Valve Disease 3
Aortic root aneurysm, Aortic valve stenosis, Atrial septal defect, Bicuspid aortic valve OMIM:618496
Pulmonary Hypertension, Primary, 1
Pulmonary aterial intimal fibrosis, Pulmonary arterial medial hypertrophy, Right ventricular hype... OMIM:178600
Phenobarbital Embryopathy
Hypospadias, Tetralogy of Fallot, Abnormal mitral valve morphology ORPHA:1919
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Bilateral microphthalmos, Anophthalmia OMIM:611638
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Pachygyria, Type II lissencephaly, Cerebellar cyst, Abnormal cerebral white matter morphology, Ce... OMIM:613153
Caspase 8 Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:607271
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:241410
Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome
Abnormality of the pulmonary artery ORPHA:1065
Lymphangiectasia, Intestinal
Decreased circulating IgG level, Neonatal hypoproteinemia OMIM:152800
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Truncus arteriosus, Renal agenesis, Horseshoe kidney, Ventricular septal defect, Renal hypoplasia... ORPHA:508498
Ehlers-Danlos Syndrome, Classic-Like
Quadricuspid aortic valve, Mitral valve prolapse, Vesicoureteral reflux, Unilateral renal agenesis OMIM:606408
Mass Syndrome
Mitral valve prolapse, Aortic aneurysm OMIM:604308
Pseudohypoparathyroidism, Type Ic
Hypocalcemic tetany, Hyperphosphatemia OMIM:612462
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Ige Responsiveness, Atopic
Increased circulating IgE level OMIM:147050
Coach Syndrome 1
Nephronophthisis, Unilateral renal agenesis, Vascular dilatation, Renal cyst, Stage 5 chronic kid... OMIM:216360
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Renal hypoplasia, Patent ductus arteriosus, Hypoplastic left heart, Chronic kidney disease, Depre... OMIM:617661
Tetralogy Of Fallot
Tetralogy of Fallot, Abnormal nasal morphology ORPHA:3303
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Abnormal cerebral white matter morphology, Absent brainstem auditory responses, Sensorineural hea... OMIM:617519
Cirrhosis, Familial
Increased circulating antibody level OMIM:118900
Pierpont Syndrome
Uplifted earlobe, Macrotia, Posteriorly rotated ears, Primary microcephaly, Hearing impairment, A... ORPHA:487825
Aortic Aneurysm, Familial Abdominal, 1
Abdominal aortic aneurysm OMIM:100070
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Hypocalcemia OMIM:619073
Distal Tetrasomy 15Q
Atrial septal defect, Horseshoe kidney, Abnormal heart morphology, Patent ductus arteriosus, Hypo... ORPHA:314588
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Renal hypoplasia, Truncus arteriosus, Renal cyst, Ventricular septal defect OMIM:228940
Immunodeficiency 27A
Increased circulating IgG level, Hypoalbuminemia, Increased circulating IgM level OMIM:209950
Microcephaly-Microcornea Syndrome, Seemanova Type
Microcephaly, Growth delay, Microphthalmia, Short stature ORPHA:2528
Neurodegeneration, Infantile-Onset, Biotin-Responsive
Decreased circulating IgG level OMIM:618973
Peroxisome Biogenesis Disorder 12A (Zellweger)
Atrial septal defect, Patent ductus arteriosus, Wide nasal bridge, Double outlet right ventricle,... OMIM:614886
Paget Disease Of Bone 5, Juvenile-Onset
Hyperphosphatemia, Hyperuricemia, Hydroxyprolinemia OMIM:239000
Palmoplantar Keratoderma, Epidermolytic
Increased circulating IgE level OMIM:144200
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Hypoproteinemia, Decreased circulating IgG level, Hypoalbuminemia OMIM:600351
Acalvaria
Holoprosencephaly, Spina bifida, Hydrocephalus ORPHA:945
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Ventricular septal defect, Abnormal aortic morphology, Abnormal tricuspid valve morphology ORPHA:3405
Lmna-Related Cardiocutaneous Progeria Syndrome
Ventricular hypertrophy, Mitral valve calcification, Emphysema, Aortic atherosclerotic lesion, Pa... ORPHA:363618
Hypertelorism And Tetralogy Of Fallot
Tetralogy of Fallot with absent pulmonary valve, Patent ductus arteriosus, Patent foramen ovale, ... OMIM:239711
Pseudohypoparathyroidism, Type Ia
Hypocalcemic tetany, Hyperphosphatemia OMIM:103580
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Calcinosis, Hyperphosphatemia OMIM:211900
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Unilateral renal agenesis, Choanal atresia, Muscular ventricular septal defect, Renal agenesis, T... OMIM:619227
Hypercalcemia, Infantile, 2
Hypophosphatemia, Hypercalcemia OMIM:616963
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Type II lissencephaly, Cerebellar hypoplasia, Microphthalmia OMIM:614830
2Q24 Microdeletion Syndrome
Low-set, posteriorly rotated ears, Growth delay, Small for gestational age, Microphthalmia, Failu... ORPHA:1617
Immunodeficiency 35
Increased circulating IgE level OMIM:611521
Microphthalmia, Syndromic 13
Anteverted ears, Abnormality of the pinna, Microphthalmia, Short stature, Microcephaly OMIM:300915
Transcobalamin Deficiency
Decreased circulating total IgM, Decreased circulating antibody level, Decreased circulating IgG ... ORPHA:859
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection OMIM:617349
Pierpont Syndrome
Arnold-Chiari malformation, Decreased body weight, Posteriorly rotated ears, Hearing impairment, ... OMIM:602342
Sandestig-Stefanova Syndrome
Perimembranous ventricular septal defect, Muscular ventricular septal defect, Wide nasal bridge OMIM:618804
Congenital Toxoplasmosis
Failure to thrive in infancy, Hearing impairment, Cerebral calcification, Microphthalmia, Intraut... ORPHA:858
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Ventricular septal defect, Absent pulmonary artery, Patent ductus arteriosus, Coarctation of aort... OMIM:600460
Pagod Syndrome
Situs inversus totalis, Abnormal aortic morphology, Pulmonary artery hypoplasia, Multicystic kidn... ORPHA:991
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Renal agenesis, Short nose, Anteverted nares, Ventricular septal defect, Perimembranous ventricul... OMIM:301040
Indomethacin Embryofetopathy
Abnormal renal tubule morphology, Atrial septal defect, Ventricular septal defect, Nephropathy, M... ORPHA:1909
Braddock Syndrome
Laryngeal web, Unilateral renal agenesis, Pulmonary fibrosis ORPHA:52047
15Q11.2 Microdeletion Syndrome
Atrial septal defect, Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta,... ORPHA:261183
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Postnatal growth retardation, Sensorineural hearing impairment, Failure to thrive, Intrauterine g... OMIM:617093
Microcephaly 20, Primary, Autosomal Recessive
Small cerebral cortex, Optic nerve hypoplasia, Microphthalmia, Short stature, Simplified gyral pa... OMIM:617914
Hydrocephaly-Low Insertion Umbilicus Syndrome
Anomalous pulmonary venous return, Abnormality of the urinary system, Patent ductus arteriosus, T... ORPHA:2184
Fryns Syndrome
Abnormal aortic arch morphology, Abnormal aortic morphology, Multicystic kidney dysplasia, Wide n... ORPHA:2059
Adams-Oliver Syndrome 2
Cerebral atrophy, Cerebellar hypoplasia, Retrocerebellar cyst, Low-set ears, Polymicrogyria, Prot... OMIM:614219
Xeroderma Pigmentosum, Complementation Group G
Microcephaly, Growth delay, Microphthalmia OMIM:278780
Feingold Syndrome Type 1
Tricuspid atresia, Nephritis, Horseshoe kidney, Interrupted aortic arch, Abnormal heart morpholog... ORPHA:391641
Bardet-Biedl Syndrome 16
Renal insufficiency, Bronchiolitis, Recurrent respiratory infections, Renal dysplasia, Renal cyst... OMIM:615993
Vater/Vacterl Association
Renal agenesis, Abnormal nasopharynx morphology, Ventricular septal defect, Patent ductus arterio... OMIM:192350
Digeorge Syndrome
Right aortic arch with mirror image branching, Truncus arteriosus, Interrupted aortic arch, Ventr... OMIM:188400
Biemond Syndrome Type 2
Hypospadias, Microphthalmia, Obesity ORPHA:141333
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Renal agenesis, Unilateral renal agenesis, Ectopic kidney OMIM:601076
Nanophthalmos
Microphthalmia ORPHA:35612
Aortic Aneurysm, Familial Thoracic 9
Thoracic aortic aneurysm, Mitral valve prolapse, Aortic tortuosity, Ascending aortic dissection OMIM:616166
Baraitser-Winter Syndrome 2
Pachygyria, Abnormality of the pinna, Hearing impairment, Microphthalmia, Short stature, Secondar... OMIM:614583
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Varicose veins, Peripheral arterial stenosis, Patent ductus arteriosus, Ventricular septal defect OMIM:126320
Noonan Syndrome With Multiple Lentigines
Abnormal mitral valve morphology, Abnormal endocardium morphology, Vascular dilatation, Abnormal ... ORPHA:500
Takenouchi-Kosaki Syndrome
Bulbous nose, Patent ductus arteriosus, Unilateral renal agenesis, Wide nasal bridge, Pulmonic st... OMIM:616737
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Ventricular septal defect, Duplicated collecting system, Pulmonic stenosis, Double outlet right v... OMIM:301056
Congenital Tracheal Stenosis
Preductal coarctation of the aorta, Abnormal lung lobation, Abnormal lung morphology, Anomalous o... ORPHA:141127
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Mental Retardation, Autosomal Dominant 48
Hypoplasia of the corpus callosum, Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Abnormali... OMIM:617751
Aortic Valve Disease 2
Coarctation of aorta, Calcification of the aorta, Aortic aneurysm, Bicuspid aortic valve OMIM:614823
Mesoaxial Hexadactyly And Cardiac Malformation
Pulmonic stenosis, Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:249670
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Atrial septal defect, Ventricular septal defect, Coarctation of aorta, Double outlet right ventri... ORPHA:371428
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgM level, Increased circulating IgA level, Increased circulating IgG level... OMIM:601859
Facial Dysmorphism With Multiple Malformations
Bulbous nose, Short nose, Ventricular septal defect, Wide nasal bridge, Hydronephrosis, Tetralogy... OMIM:227255
Radial-Renal Syndrome
Unilateral renal agenesis, Ectopic kidney OMIM:179280
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia OMIM:610092
7Q11.23 Microduplication Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Unilateral renal agene... ORPHA:96121
X-Linked Mandibulofacial Dysostosis
Abnormality of the pulmonary artery, Pulmonic stenosis, Prominent nasal bridge, Abnormal mitral v... ORPHA:1131
Microphthalmia, Isolated 4
Microphthalmia OMIM:613094
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Hearing impairment, Microphthalmia, Short stature OMIM:610023
Dent Disease 2
Hypophosphatemia, Elevated circulating creatine kinase concentration OMIM:300555
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Microphthalmia, Syndromic 12
Microphthalmia, Wide nasal bridge, Anophthalmia OMIM:615524
Seckel Syndrome 2
Growth delay, Cerebellar hypoplasia, Small for gestational age, Microphthalmia, Short stature, Mi... OMIM:606744
Short Rib-Polydactyly Syndrome
Nephronophthisis, Situs inversus totalis, Urogenital sinus anomaly, Abnormal heart morphology, Ab... ORPHA:1505
Cerebrooculofacioskeletal Syndrome 4
Low-set, posteriorly rotated ears, Cerebellar hypoplasia, Bilateral microphthalmos, Decreased bod... OMIM:610758
Hypophosphatemic Bone Disease
Hypophosphatemia OMIM:146350
Syndromic Recessive X-Linked Ichthyosis
Renal insufficiency, Unilateral renal agenesis ORPHA:281090
Severe Combined Immunodeficiency, X-Linked
Decreased circulating IgE, Agammaglobulinemia, Decreased circulating IgA level, Decreased circula... OMIM:300400
Transaldolase Deficiency
Coarctation of aorta, Atrial septal defect, Abnormality of the kidney, Biventricular hypertrophy ORPHA:101028
Ehlers-Danlos Syndrome, Beasley-Cohen Type
Hearing impairment, Bilateral microphthalmos OMIM:608763
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Micropenis, Unilateral renal agenesis OMIM:244200
Prune Belly Syndrome
Atrial septal defect, Urogenital sinus anomaly, Hydroureter, Ventricular septal defect, Patent du... ORPHA:2970
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Mitral valve prolapse, Spina bifida OMIM:211960
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Familial Bicuspid Aortic Valve
Abnormal left ventricular outflow tract morphology, Thoracic aorta calcification, Coarctation of ... ORPHA:402075
Ehlers-Danlos Syndrome, Autosomal Dominant, Type Unspecified
Mucoid extracellular matrix accumulation, Aortic dissection, Prominent nasal bridge, Aortic aneur... OMIM:130090
Combined Immunodeficiency, X-Linked
Decreased circulating IgG level OMIM:312863
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Increased circulating antibody level OMIM:247800
Optic Atrophy 8
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged somatosensory ev... OMIM:616648
Cerebrooculofacioskeletal Syndrome 2
Growth delay, Hearing impairment, Small for gestational age, Microphthalmia, Intrauterine growth ... OMIM:610756
Congenital Heart Defects, Multiple Types, 3
Persistent left superior vena cava, Tetralogy of Fallot, Atrial septal defect, Abnormal heart mor... OMIM:614954
Sanjad-Sakati Syndrome
Hypocalcemia, Hyperphosphatemia ORPHA:2323
Neuroleptic Malignant Syndrome
Hypocalcemia, Hypernatremia, Hyponatremia, Elevated circulating creatine kinase concentration, Hy... ORPHA:94093
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Misalignment of the pulmonary veins, Hydroureter, Patent ductus arteriosus, Alveolar capillary dy... OMIM:265380
Malignant Hyperthermia Of Anesthesia
Elevated creatine kinase after exercise, Hyperkalemia, Hyperphosphatemia ORPHA:423
Timothy Syndrome
Ventricular septal defect, Patent ductus arteriosus, Pneumonia, Bronchitis, Cardiomegaly, Patent ... OMIM:601005
Cat-Eye Syndrome
Intrauterine growth retardation, Hearing impairment, Microphthalmia, Short stature ORPHA:195
X-Linked Intellectual Disability, Nascimento Type
Underdeveloped nasal alae, Ventricular septal defect, Patent ductus arteriosus, Peripheral pulmon... ORPHA:163956
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemia, Hypophosphatemic rickets OMIM:193100
Faciothoracogenital Syndrome
Glandular hypospadias, Microphthalmia OMIM:227320
Short Stature, Microcephaly, And Endocrine Dysfunction
Renal hypoplasia, Unilateral renal agenesis, Ectopic kidney, Broad nasal tip, Dilated cardiomyopa... OMIM:616541
Bresek Syndrome
Growth delay, Aganglionic megacolon, Low-set ears, Neonatal death, Hearing impairment, Optic nerv... ORPHA:85284
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Type II lissencephaly, Cerebellar hypoplasia, Sensorineural hearing impairment, Microphthalmia, A... OMIM:615249
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Rieger anomaly, Abnormal auditory evoked potentials, Sensorineural hearing impairment, Short stat... OMIM:109120
Acrofacial Dysostosis 1, Nager Type
Ventricular septal defect, Laryngeal hypoplasia, Patent ductus arteriosus, Unilateral renal agene... OMIM:154400
Smith-Lemli-Opitz Syndrome
Atrial septal defect, Anteverted nares, Ventricular septal defect, Renal hypoplasia, Patent ductu... OMIM:270400
Fanconi Anemia, Complementation Group I
Agenesis of corpus callosum, Absent septum pellucidum, Conductive hearing impairment, Decreased b... OMIM:609053
Wildervanck Syndrome
Short neck, Webbed neck, Meningocele, Lens subluxation, Low posterior hairline ORPHA:3456
Distal Monosomy 15Q
Broad nasal tip, Double outlet right ventricle with doubly committed ventricular septal defect an... ORPHA:1596
Immunodeficiency, Common Variable, 11
Decreased circulating IgG level, Increased circulating IgE level OMIM:615767
Riddle Syndrome
Decreased circulating IgG level OMIM:611943
20Q13.33 Microdeletion Syndrome
Atrial septal defect, Bulbous nose, Hypoplastic aortic arch, Abnormal cardiac ventricle morpholog... ORPHA:261311
Giant Cell Arteritis
Renal insufficiency, Recurrent pharyngitis, Hematuria, Pericarditis, Abnormal pleura morphology, ... ORPHA:397
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Ventricular septal defect, Patent ductus arteriosus, Unilateral renal agenesis, Aortic valve sten... ORPHA:464311
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation
Hematuria, Microphthalmia OMIM:120433
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Increased circulating antibody level OMIM:618495
Joubert Syndrome 22
Temporal cortical atrophy, Hypoplasia of the corpus callosum, Microphthalmia, Intrauterine growth... OMIM:615665
Beaulieu-Boycott-Innes Syndrome
Horseshoe kidney, Ventricular septal defect, Recurrent urinary tract infections, Patent ductus ar... OMIM:613680
Cockayne Syndrome Type 3
Neurogenic bladder, Premature coronary artery atherosclerosis, Hydroureter, Renal hypoplasia, Uni... ORPHA:90324
Meckel Syndrome, Type 8
Short nose, Microphthalmia, Anophthalmia OMIM:613885
Duodenal Atresia
Abnormality of the pulmonary artery ORPHA:1203
Microphthalmia-Brain Atrophy Syndrome
Corpus callosum atrophy, Bilateral microphthalmos, Cerebellar vermis atrophy, Diffuse cerebral at... ORPHA:77299
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Type II lissencephaly, Cerebellar malformation, Microphthalmia ORPHA:324416
Immunodeficiency 14A, Autosomal Dominant
Increased circulating IgM level, Decreased circulating IgG2 level, Decreased specific pneumococca... OMIM:615513
Foveal Hypoplasia 2
Hypoplasia of the fovea, Microphthalmia OMIM:609218
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Abnormal aortic morphology, Hypoplastic left heart, Patent ductus arteriosus ORPHA:2001
Noonan Syndrome 9
Pulmonic stenosis, Coarctation of aorta, Hydroureter, Ventricular septal defect OMIM:616559
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Unilateral renal agenesis, Hypoplastic aortic arch, Anteverted nares ORPHA:457284
Congenital Muscular Dystrophy With Cerebellar Involvement
Diffuse white matter abnormalities, Type II lissencephaly, Cerebellar cyst, Olivopontocerebellar ... ORPHA:370959
Kenny-Caffey Syndrome, Type 2
Hypocalcemia, Hyperphosphatemia, Transient hypophosphatemia OMIM:127000
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Hyperphosphatemia ORPHA:457059
Immunoneurologic Disorder, X-Linked
Decreased circulating IgG2 level OMIM:300076
Mmep Syndrome
Microcephaly, Microphthalmia ORPHA:3434
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Short nose, Microphthalmia, Hypoplasia of penis, Hydroureter ORPHA:2547
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Atrial septal defect, Myocardial fibrosis, Pulmonic stenosis, Dilated cardiomyopathy, Transpositi... OMIM:253800
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Increased circulating IgA level OMIM:314000
Autoinflammation With Arthritis And Dyskeratosis
Increased circulating IgG level, Elevated circulating C-reactive protein concentration, Increased... OMIM:617388
Methylmalonic Acidemia With Homocystinuria Type Cblf
Methylmalonic aciduria, Unilateral renal agenesis, Abnormal heart morphology ORPHA:79284
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Abnormal motor evoked pote... ORPHA:320401
Left Ventricular Noncompaction 1
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Left ventricular hyp... OMIM:604169
Chime Syndrome
Pulmonary valve atresia, Ventricular septal defect, Hydronephrosis, Tetralogy of Fallot, Abnormal... ORPHA:3474
Primary Pulmonary Hypoplasia
Secundum atrial septal defect, Abnormal pulmonary artery morphology, Dextrocardia, Pneumothorax, ... ORPHA:2257
Baraitser-Winter Syndrome 1
Pachygyria, Overfolded helix, Postnatal growth retardation, Low-set ears, Sensorineural hearing i... OMIM:243310
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Hypospadias, Tetralogy of Fallot, Hypoplasia of penis ORPHA:1381
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Abnormality of peripheral nerve conduction, Cerebral cortical atrophy, Microphthalmia, Short stat... ORPHA:48431
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation
Unilateral renal agenesis OMIM:206750
Heart And Brain Malformation Syndrome
Interrupted aortic arch, Ventricular septal defect, Wide nasal bridge, Anteverted nares, Depresse... OMIM:616920
Aortic Aneurysm, Familial Thoracic 10
Coronary artery atherosclerosis, Bicuspid aortic valve, Aortic root aneurysm, Abdominal aortic an... OMIM:617168
Dyrk1A-Related Intellectual Disability Syndrome
Ventricular septal defect, Patent ductus arteriosus, Unilateral renal agenesis, Aortic valve sten... ORPHA:464306
Cutis Laxa, Autosomal Dominant 3
Unilateral renal agenesis OMIM:616603
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Isolated Dandy-Walker Malformation
Tetralogy of Fallot ORPHA:217
Mental Retardation, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:300861
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type
Growth delay, Bilateral microphthalmos, Postnatal growth retardation, Severe sensorineural hearin... OMIM:600122
Whim Syndrome 1
Decreased circulating antibody level, Decreased circulating IgG level OMIM:193670
Autosomal Dominant Hypocalcemia
Hypomagnesemia, Hypocalcemia, Hyperphosphatemia ORPHA:428
Oculocerebrocutaneous Syndrome
Hypoplasia of the corpus callosum, Microphthalmia, Anophthalmia, Agenesis of corpus callosum, Dan... OMIM:164180
Renal Hypodysplasia/Aplasia 3
Horseshoe kidney, Multicystic kidney dysplasia, Renal dysplasia, Vesicoureteral reflux, Hydroneph... OMIM:617805
Humero-Radial Synostosis
Meningocele, Microcephaly, Chorioretinal coloboma, Iris coloboma ORPHA:3265
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Complete atrioventricular canal defect, Coarctation of aorta, Subvalvular aortic stenosis OMIM:217085
Fanconi Anemia, Complementation Group G
Microcephaly, Growth delay, Microphthalmia OMIM:614082
Bladder Exstrophy And Epispadias Complex
Horseshoe kidney, Hydroureter, Unilateral renal agenesis, Bladder exstrophy, Epispadias OMIM:600057
Ectodermal Dysplasia And Immunodeficiency 1
Abnormal circulating IgG level, Increased circulating IgM level, Dysgammaglobulinemia, Increased ... OMIM:300291
Bilateral Frontoparietal Polymicrogyria
Cerebellar vermis hypoplasia, Cerebellar dysplasia, Cerebral dysmyelination, Abnormal cerebellum ... ORPHA:101070
Isolated Klippel-Feil Syndrome
Spina bifida, Low posterior hairline, Ventricular septal defect, Webbed neck, Congenital muscular... ORPHA:2345
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Arteria lusoria, Recurrent urinary tract infections, Unilateral renal agenesis, Wide nasal bridge... ORPHA:221139
Holt-Oram Syndrome
Anomalous pulmonary venous return, Atrial septal defect, Ventricular septal defect, Abnormal aort... ORPHA:392
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Abnormal heart morphology, Unilateral renal agenesis, Renal dysplasia, Vesicoureteral reflux, Hyd... ORPHA:2237
Craniofacioskeletal Syndrome
Atrial septal defect, Interrupted aortic arch, Ventricular septal defect, Hypoplastic frontal sin... OMIM:300712
Autosomal Dominant Polycystic Kidney Disease
Renal insufficiency, Hematuria, Albuminuria, Pyelonephritis, Enlarged kidney, Abnormal urinary el... ORPHA:730
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Progressive sensorineural hearing impairment, Abnormal auditory evoked potentials, Optic atrophy OMIM:125250
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Anomalous pulmonary venous return, Atrial septal defect, Coarctation of aorta, Abnormal aortic va... ORPHA:1120
Pseudohypoparathyroidism Type 1C
Hypocalcemia, Hypocalcemic tetany, Calcinosis, Hyperphosphatemia, Hypocalcemic seizures ORPHA:79444
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Atrial septal defect, Ventricular septal defect, Renal hypoplasia, Pulmonary artery stenosis, Ant... ORPHA:75389
Fanconi Anemia, Complementation Group J
Intrauterine growth retardation, Microphthalmia, Postnatal growth retardation OMIM:609054
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Increased circulating IgE level, Increased circulating antibody level, Increased circulating IgG ... ORPHA:169154
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Renal agenesis, Hypoplasia of the bladder, Ventricular septal defect, Pulmonary hypoplasia, Bilat... OMIM:611812
Hardikar Syndrome
Ventricular septal defect, Hydroureter, Patent ductus arteriosus, Recurrent urinary tract infecti... OMIM:612726
Pseudohypoparathyroidism Type 1A
Hypocalcemia, Hypocalcemic tetany, Calcinosis, Abnormal platelet function, Hyperphosphatemia, Hyp... ORPHA:79443
Familial Isolated Hyperparathyroidism
Hypophosphatemia, Hypercalcemia, Infantile hypercalcemia ORPHA:99879
Nevus Comedonicus Syndrome
Microcephaly, Spina bifida, Spina bifida occulta ORPHA:64754
Linear Skin Defects With Multiple Congenital Anomalies 2
Tetralogy of Fallot, Ventricular hypertrophy, Short nose, Atrial septal defect OMIM:300887
Microphthalmia, Isolated 3
Microphthalmia, Anophthalmia OMIM:611038
Kimura Disease
Increased circulating IgE level ORPHA:482
Alport Syndrome
Hematuria, IgA deposition in the glomerulus, Renal insufficiency, Renal glomerular foam cells, Re... ORPHA:63
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Unilateral renal agenesis, Anteverted nares, Depressed nasal bridge ORPHA:1064
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
Macrotia, Cerebellar hypoplasia, Decreased body weight, Postnatal growth retardation, Dilated fou... OMIM:300749
Warburg Micro Syndrome 4
Decreased motor nerve conduction velocity, Hypoplasia of the corpus callosum, Cerebral cortical a... OMIM:615663
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Hypoplasia of the corpus callosum, Growth delay, Cerebral atrophy, Cerebellar atrophy, Abnormal a... OMIM:619260
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Hypophosphatemia OMIM:612287
Keutel Syndrome
Underdeveloped nasal alae, Ventricular septal defect, Recurrent sinusitis, Tracheal atresia, Pulm... ORPHA:85202
10Q22.3Q23.3 Microduplication Syndrome
Hypospadias, Tetralogy of Fallot ORPHA:276422
Congenital Primary Aphakia
Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia, Microphthalmia ORPHA:83461
Uremic Pruritus
Hypermagnesemia, Increased blood urea nitrogen, Renal hypophosphatemia, Abnormality of serum cyto... ORPHA:94059
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Cavum septum pellucidum, Megalencephaly, Polymicrogyria, Microphthalmia, Large earlobe OMIM:602501
Acrodysostosis 1 With Or Without Hormone Resistance
Hyperphosphatemia OMIM:101800
Xeroderma Pigmentosum, Complementation Group B
Cerebellar atrophy, Sensorineural hearing impairment, Basal ganglia calcification, Microphthalmia... OMIM:610651
Diamond-Blackfan Anemia 6
Atrial septal defect, Ventricular hypertrophy, Ventricular septal defect, Patent ductus arteriosu... OMIM:612561
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Bulbous nose, Abnormal heart morphology, Patent ductus arteriosus, Unilateral renal agenesis, Wid... ORPHA:487796
Dextrocardia With Unusual Facies And Microphthalmia
Macrotia, Microphthalmia, Anophthalmia OMIM:221950
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Bilateral sensorineural hearing impairment, Severe intrauterine growth retardation, Postnatal gro... ORPHA:73272
Monosomy 18Q
Left aortic arch with right descending aorta and right ductus arteriosus, Bulbous nose, Pulmonary... ORPHA:1600
Immunodeficiency 70
Decreased circulating total IgM, Decreased circulating antibody level, Decreased circulating tota... OMIM:618969
Hartsfield Syndrome
Intrauterine growth retardation, Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the cor... ORPHA:2117
Restrictive Dermopathy
Atrial septal defect, Patent ductus arteriosus, Choanal atresia, Dextrocardia, Pulmonary hypoplas... ORPHA:1662
Myotonic Dystrophy 2
Elevated circulating creatine kinase concentration, Decreased circulating IgG level, Decreased ci... OMIM:602668
Fanconi Renotubular Syndrome 5
Hypophosphatemia, Hypophosphatemic rickets OMIM:618913
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... OMIM:619281
Ring Chromosome 10 Syndrome
Abnormality of the antihelix, Aganglionic megacolon, Low-set ears, Cachexia, Microphthalmia, Intr... ORPHA:1438
X-Linked Immunoneurologic Disorder
Decreased circulating IgG2 level ORPHA:2571
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Tetralogy of Fallot, Aminoaciduria OMIM:250620
Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy, And Myopathy
Unilateral renal agenesis, Underdeveloped nasal alae OMIM:618419
Renal Cysts And Diabetes Syndrome
Abnormal renal morphology, Decreased numbers of nephrons, Renal hypoplasia, Proteinuria, Unilater... OMIM:137920
Charcot-Marie-Tooth Disease, Type 4D
Hearing impairment, Abnormal auditory evoked potentials, Decreased nerve conduction velocity OMIM:601455
Isolated Optic Nerve Hypoplasia/Aplasia
Unilateral microphthalmos, Optic disc hypoplasia, Growth delay, Aplasia/Hypoplasia of the iris, P... ORPHA:137902
Pallister-Hall Syndrome
Preductal coarctation of the aorta, Abnormal lung lobation, Bifid epiglottis, Short nose, Antever... OMIM:146510
Short Stature, Developmental Delay, And Congenital Heart Defects
Patent foramen ovale, Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:617044
Klippel-Feil Syndrome 1, Autosomal Dominant
Unilateral renal agenesis, Abnormality of the kidney OMIM:118100
Familial Cerebral Saccular Aneurysm
Abnormal circle of Willis morphology, Cerebral berry aneurysm, Atherosclerosis, Aortic root aneur... ORPHA:231160
Zttk Syndrome
Unilateral lung agenesis, Atrial septal defect, Horseshoe kidney, Short nose, Ventricular septal ... OMIM:617140
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Atrial septal defect, Bulbous nose, Short nose, Ventricular septal defect, Paten