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Gene: Hectd1 MGI:2384768

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Gene Summary

Name:
HECT domain E3 ubiquitin protein ligase 1
Synonyms:
b2b327Clo,  A630086P08Rik,  opm

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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 basophil cell number Hectd1tm1b(EUCOMM)Hmgu HET Early adult 3.21×10-40
increased eosinophil cell number Hectd1tm1b(EUCOMM)Hmgu HET Early adult 8.38×10-21
decreased circulating alkaline phosphatase level Hectd1tm1b(EUCOMM)Hmgu HET Early adult 5.75×10-05
abnormal coat/hair pigmentation Hectd1tm1b(EUCOMM)Hmgu HET Early adult 8.76×10-05
increased circulating calcium level Hectd1tm1b(EUCOMM)Hmgu HET Early adult 5.15×10-10

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 Hectd1 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 Hectd1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Cardiac Septal Defects With Coarctation Of The Aorta
Coarctation of aorta, Secundum atrial septal defect, Perimembranous ventricular septal defect OMIM:212090
Coarctation Of Aorta
Hypoplastic left heart, Coarctation of aorta OMIM:120000
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Congenital Heart Defects, Multiple Types, 4
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect... OMIM:615779
Nevoid Hypermelanosis, Linear And Whorled
Hyperpigmented streaks, Eosinophilia OMIM:614323
Coronary Artery Dissection, Spontaneous
Coronary artery dissection, Cystic medial necrosis OMIM:122455
Fallot Complex With Severe Mental And Growth Retardation
Tetralogy of Fallot, Double outlet right ventricle, Pulmonic stenosis, Ventricular septal defect OMIM:601127
Ventricular Septal Defect 1
Tetralogy of Fallot, Atrioventricular canal defect, Ventricular septal defect, Atrial septal defe... OMIM:614429
Atrioventricular Septal Defect 5
Hypoplastic left heart, Atrioventricular canal defect, Muscular ventricular septal defect OMIM:614474
Hypoplastic Left Heart Syndrome 1
Aortic valve stenosis, Coarctation of aorta, Hypoplastic left heart OMIM:241550
Cayler Cardiofacial Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect OMIM:125520
Aorto-Ventricular Tunnel
Ventricular hypertrophy, Aortic root aneurysm, Abnormal coronary artery morphology, Abnormal hear... ORPHA:3400
Aorta Coarctation
Hypoplastic left heart, Tetralogy of Fallot, Coronary artery atherosclerosis, Stroke, Persistent ... ORPHA:1457
Immunodeficiency 88
Eosinophilia OMIM:619630
Tricuspid Atresia
Hypoplasia of right ventricle, Patent foramen ovale, Ventricular septal defect, Persistent left s... ORPHA:1209
Autosomal Dominant Coarctation Of Aorta
Hypoplastic left heart, Abnormal aortic arch morphology, Aortic arch aneurysm, Ventricular septal... ORPHA:1455
Atrial Septal Defect 4
Coarctation of aorta, Atrial septal defect, Patent foramen ovale OMIM:611363
Myeloproliferative Disorder, Chronic, With Eosinophilia
Eosinophilia, Myeloproliferative disorder OMIM:131440
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Aortic Valve Disease 3
Aortic valve stenosis, Aortic root aneurysm, Bicuspid aortic valve, Atrial septal defect, Ascendi... OMIM:618496
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia, Ventricular septal defect OMIM:178370
Long Qt Syndrome 16
Patent ductus arteriosus after birth at term, Perimembranous ventricular septal defect OMIM:618782
Eosinophilia, Familial
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia OMIM:131400
Griscelli Syndrome, Type 3
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes OMIM:609227
Atrioventricular Septal Defect, Susceptibility To, 2
Atrioventricular canal defect, Pulmonary artery atresia, Right aortic arch with mirror image bran... OMIM:606217
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ... OMIM:202700
Ventricular Septal Defect 2
Perimembranous ventricular septal defect OMIM:614431
Congenital Heart Defects, Multiple Types, 7
Aortopulmonary collateral arteries, Absence of the pulmonary valve, Tetralogy of Fallot, Right ao... OMIM:618780
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Retinal arterial macroaneurysms, Pulmonic stenosis OMIM:614224
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia, Hypocalcemia DECIPHER:16
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Ichthyosis-Prematurity Syndrome
Eosinophilia ORPHA:88621
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Pseudocoarctation of the aorta, Bicuspid aortic valve, Patent ductus arteriosus ORPHA:228190
Ferguson-Bonni Neurodevelopmental Syndrome
Coronary-pulmonary artery fistula, Patent foramen ovale OMIM:619699
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Ventricular septal defect, Overriding aorta, Atrial septal defect, Patent ductus arteriosus, Vasc... OMIM:601927
Immunodeficiency 103, Susceptibility To Fungal Infections
Decreased circulating iron concentration, Hypereosinophilia, Abnormal B cell count, Abnormal prop... OMIM:212050
Congenital Heart Defects, Multiple Types, 6
Total anomalous pulmonary venous return, Secundum atrial septal defect, Tetralogy of Fallot, Righ... OMIM:613854
Griscelli Syndrome, Type 1
Silver-gray hair, Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Large... OMIM:214450
Chromosome 1P36 Deletion Syndrome, Proximal
Dilated cardiomyopathy, Biventricular hypertrophy, Coronary artery fistula, Complete atrioventric... OMIM:619343
Juvenile Temporal Arteritis
Eosinophilia, Leukocytosis ORPHA:26137
Familial Aortic Dissection
Descending thoracic aorta aneurysm, Aortic root aneurysm, Aortic dissection, Mucoid extracellular... ORPHA:229
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Generalized Eruptive Histiocytosis
Leukemia, Hypereosinophilia, Histiocytosis, Spotty hyperpigmentation ORPHA:157991
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Partial albinism, Hypopigmentation of hair, Neutropenia ORPHA:90023
Aortic Aneurysm, Familial Thoracic 4
Aortic dissection, Anterior cerebral artery stenosis, Coronary artery atherosclerosis, Stroke, Po... OMIM:132900
Aneurysm Of Interventricular Septum
Vascular dilatation, Abnormal ventricular septum morphology OMIM:105805
Supravalvular Aortic Stenosis
Peripheral arterial stenosis, Pulmonary artery stenosis, Pulmonic stenosis OMIM:185500
Cranioacrofacial Syndrome
Pulmonic stenosis, Ventricular septal defect OMIM:122850
Acute Myelomonocytic Leukemia
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia ORPHA:517
Cardiac Valvular Dysplasia 1
Left aortic arch with cervical origin of the right subclavian artery, Arteria lusoria, Valvular p... OMIM:212093
Adamantinoma
Hypercalcemia ORPHA:55881
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Hypercalcemia OMIM:211000
Mesoaxial Hexadactyly And Cardiac Malformation
Atrial septal defect, Patent ductus arteriosus, Pulmonic stenosis, Ventricular septal defect OMIM:249670
Distal Duplication 14Q
Patent ductus arteriosus, Abnormal aortic morphology ORPHA:1705
Pulmonic Stenosis And Deafness
Ventricular hypertrophy, Pulmonic stenosis OMIM:178651
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Tetralogy of Fallot, Persistent left superior vena cava, Overriding aorta, Double outlet right ve... ORPHA:3304
Congenital Heart Defects, Multiple Types, 5
Aortic valve stenosis, Dilated cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Bi... OMIM:617912
Atrial Septal Defect 2
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Dextrocardia, Pat... OMIM:607941
Aortic Aneurysm, Familial Thoracic 7
Aortic rupture, Aortic aneurysm, Descending aortic dissection, Ascending aortic dissection OMIM:613780
Cardiomyopathy, Dilated, 2H
Muscular ventricular septal defect, Secundum atrial septal defect OMIM:620203
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Pseudocoarctation of the aorta, Bicuspid aortic valve, Patent ductus arteriosus OMIM:604381
Hypoplastic Left Heart Syndrome
Hypoplastic left heart, Mitral atresia, Mitral stenosis, Atrial septal defect, Hypoplastic aortic... ORPHA:2248
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Aortic Aneurysm, Familial Thoracic 8
Abdominal aortic aneurysm, Coronary artery aneurysm, Descending aortic dissection, Ascending aort... OMIM:615436
Ventricular Septal Defect 3
Pulmonary artery stenosis, Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:614432
Cardiomyopathy, Dilated, 1S
Pulmonary artery hypoplasia, Dilated cardiomyopathy, Left ventricular noncompaction, Interstitial... OMIM:613426
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Coarctation of aorta, Patent ductus arteriosus, Abnormal cardiac septum morphology OMIM:601612
Ciliary Dyskinesia, Primary, 53
Situs inversus totalis, Right aortic arch, Patent foramen ovale, Cardiomegaly, Persistent left su... OMIM:620642
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Cardiomegaly, Atrial septa... OMIM:620135
Congenital Heart Defects, Multiple Types, 2
Aortic valve stenosis, Myxomatous mitral valve degeneration, Tetralogy of Fallot, Ventricular sep... OMIM:614980
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Abnormal heart morphology, Patent foramen ovale, Ventricular septal defect, Persistent left super... ORPHA:477817
Aortic Valve Disease 2
Aortic valve stenosis, Calcification of the aorta, Patent foramen ovale, Bicuspid aortic valve, A... OMIM:614823
16P13.11 Microduplication Syndrome
Tetralogy of Fallot, Ventricular septal defect, Coarctation of aorta, Transposition of the great ... ORPHA:261243
Hypereosinophilic Syndrome, Idiopathic
Eosinophilia, Myeloproliferative disorder, Splenomegaly OMIM:607685
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Peripheral pulmonary artery stenosis, Ventricular septal defect OMIM:617992
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Genitopalatocardiac Syndrome
Ventricular septal defect, Right aortic arch, Double outlet right ventricle, Transposition of the... OMIM:231060
Laubry-Pezzi Syndrome
Abnormal coronary artery morphology, Patent foramen ovale, Ventricular septal defect, Aortic valv... ORPHA:99094
Albinism, Oculocutaneous, Type Iii
Partial albinism, Albinism, Red hair OMIM:203290
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Abnormal tricuspid valve morphology, Abnormal aortic morphology, Ventricular septal defect ORPHA:3405
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Lymphopenia, Eosinophilia ORPHA:2582
Cardiomyopathy, Dilated, 2D
Dilated cardiomyopathy, Muscular ventricular septal defect, Patent foramen ovale, Interstitial ca... OMIM:619371
Conotruncal Heart Malformations
Complete atrioventricular canal defect, Truncus arteriosus, Coarctation of aorta, Transposition o... OMIM:217095
Right Pulmonary Artery, Anomalous Origin Of, Familial
Patent foramen ovale, Ventricular septal defect, Coarctation of aorta, Patent ductus arteriosus, ... OMIM:610338
Heterotaxy, Visceral, 8, Autosomal
Aortopulmonary collateral arteries, Hypoplastic left heart, Unbalanced atrioventricular canal def... OMIM:617205
Megabladder, Congenital
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Bicuspid aortic valve, ... OMIM:618719
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Abnormal aortic arch morphology, Overriding aorta, Arteriovenous malformation ORPHA:1110
Congenital Heart Defects, Multiple Types, 9
Aortopulmonary collateral arteries, Hypoplastic left heart, Arteria lusoria, Unbalanced atriovent... OMIM:620294
Double Outlet Left Ventricle
Ventricular septal defect, Cardiomegaly, Pulmonary artery stenosis, Bicuspid pulmonary valve, Pul... ORPHA:3427
Eosinophil Peroxidase Deficiency
Eosinophil nuclear hypersegmentation OMIM:261500
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Eosinophilia, Elevated circulating creatine kinase concentration OMIM:253600
Hypocalcemia, Autosomal Dominant 2
Abnormal blood phosphate concentration, Hypocalcemia OMIM:615361
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Secundum atrial septal defect, Ventricular septal defect, Coarctation of aorta, Perimembranous ve... OMIM:600987
Aortic Aneurysm, Familial Thoracic 6
Premature coronary artery atherosclerosis, Moyamoya phenomenon, Aortic aneurysm, Descending aorti... OMIM:611788
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Perimembranous ventricular septal defect OMIM:619170
Heterotaxy, Visceral, 4, Autosomal
Common atrium, Total anomalous pulmonary venous return, Bilateral superior vena cava, Atrioventri... OMIM:613751
Chromosome 15Q25 Deletion Syndrome
Coronary artery fistula, Abnormal cardiac septum morphology, Dextrocardia, Ventricular septal defect OMIM:614294
Tietz Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin, White eyebrow, Abnormality of skin pigmen... ORPHA:42665
Peeling Skin Syndrome 1
Eosinophilia, Onycholysis, Nail dystrophy, Brittle hair OMIM:270300
Griscelli Syndrome, Type 2
Silver-gray hair, Hypopigmentation of the skin, Hemophagocytosis, Melanin pigment aggregation in ... OMIM:607624
Congenitally Uncorrected Transposition Of The Great Arteries
Interrupted aortic arch, Abnormal aortic arch morphology, Abnormal coronary artery morphology, Bi... ORPHA:860
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Overriding aorta, Patent ductus arteriosus, Ventricular septal defect OMIM:617021
Congenital Gerbode Defect
Bacterial endocarditis, Ventricular septal defect, Constrictive pericarditis, Perimembranous vent... ORPHA:99095
Diamond-Blackfan Anemia 16
Atrial septal defect, Pulmonic stenosis OMIM:617408
Immunodeficiency 32B
Hypoalbuminemia, Impaired oxidative burst, Splenomegaly, Eosinophilia, Monocytopenia, Thrombocyto... OMIM:226990
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:618883
Heparin Cofactor Ii Deficiency
Post-angioplasty coronary artery restenosis OMIM:612356
8P23.1 Duplication Syndrome
Tetralogy of Fallot, Pulmonic stenosis, Ventricular septal defect ORPHA:251076
Eosinophilopenia
Decreased eosinophil count OMIM:131430
Chronic Myeloid Leukemia
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... ORPHA:521
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Anemia, Hypercalcemia ORPHA:2668
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Coronary artery fistula, Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:620024
Heterotaxy, Visceral, 6, Autosomal
Hypoplastic left heart, Total anomalous pulmonary venous return, Unbalanced atrioventricular cana... OMIM:614779
Aortic Aneurysm, Familial Thoracic 9
Thoracic aortic aneurysm, Aortic tortuosity, Ascending aortic dissection, Mitral valve prolapse OMIM:616166
Kimura Disease
Eosinophilia ORPHA:482
Heart Defects-Limb Shortening Syndrome
Abnormal tricuspid valve morphology, Abnormal mitral valve morphology, Abnormality of the pulmona... ORPHA:1354
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Muscular ventricular septal defect, Transie... OMIM:115197
Aortic Arch Anomaly With Peculiar Facies And Impaired Intellectual Development
Right aortic arch with mirror image branching OMIM:107500
Heterotaxy, Visceral, 12, Autosomal
Ventricular septal defect, Discordant atrioventricular connection, Single coronary artery origin,... OMIM:619702
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Fibromuscular Dysplasia, Arterial
Stroke, Arterial fibromuscular dysplasia, Aortic dissection OMIM:135580
Immunodeficiency 7
Vitiligo, Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Patchy alopecia, Neutropenia OMIM:615387
Diffuse Neonatal Hemangiomatosis
Anemia, Hypercalcemia, Thrombocytopenia ORPHA:2123
Aortic Valve Disease 1
Aortic valve stenosis, Aortic valve calcification, Tetralogy of Fallot, Mitral atresia, Mitral st... OMIM:109730
Aortic Aneurysm, Familial Thoracic 12
Bicuspid aortic valve, Aortic root aneurysm, Ascending aortic dissection, Ascending tubular aorta... OMIM:619825
Hyperparathyroidism 4
Hypercalcemia OMIM:617343
Grange Syndrome
Bicuspid aortic valve, Renal artery stenosis, Coronary artery stenosis, Carotid artery stenosis OMIM:602531
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2
Muscular ventricular septal defect OMIM:620062
Uncombable Hair Syndrome
Coarse hair, White hair, Abnormal hair morphology, Patchy alopecia, Trichodysplasia, Woolly hair ORPHA:1410
Grange Syndrome
Arterial stenosis, Patent ductus arteriosus, Ventricular septal defect ORPHA:79094
Ciliary Dyskinesia, Primary, 40
Unbalanced atrioventricular canal defect, Atrioventricular canal defect, Congenitally corrected t... OMIM:618300
Hidrotic Ectodermal Dysplasia
Generalized hypotrichosis, Alopecia, Sparse pubic hair, Brittle scalp hair, Small nail, Sparse ey... ORPHA:189
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Perimembranous ventricular septal defect, Transposition of the great arteries, Pulmonic stenosis OMIM:617877
Criss-Cross Heart
Mitral stenosis, Abnormal mitral valve morphology, Ventricular septal defect, Transposition of th... ORPHA:1461
Right Atrial Isomerism
Aortopulmonary collateral arteries, Common atrium, Total anomalous pulmonary venous return, Tetra... OMIM:208530
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To
Aortic aneurysm, Descending aortic dissection, Ascending aortic dissection OMIM:617349
Birk-Aharoni Syndrome
Muscular ventricular septal defect OMIM:620071
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Pericardial effusion, Aortic aneurysm, Multiple muscular ventricular septal defects, Atrial septa... OMIM:620070
Alpha-Heavy Chain Disease
Anemia, Splenomegaly, Alopecia, Hypocalcemia ORPHA:100025
Cinca Syndrome
Hepatosplenomegaly, Leukocytosis, Eosinophilia, Anemia, Elevated circulating C-reactive protein c... OMIM:607115
Moyamoya Disease 5
Moyamoya phenomenon, Ascending tubular aorta aneurysm OMIM:614042
Omenn Syndrome
Alopecia, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Thrombocytopenia, B lymph... OMIM:603554
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Granulom... OMIM:619802
Heterotaxy, Visceral, 7, Autosomal
Interrupted aortic arch, Common atrium, Pulmonary artery hypoplasia, Total anomalous pulmonary ve... OMIM:616749
Hypercalcemia, Infantile, 2
Hypophosphatemia, Hypercalcemia OMIM:616963
Wells Syndrome
Eosinophilia ORPHA:901
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Fadd-Related Immunodeficiency
Pulmonary artery atresia, Ventricular septal defect ORPHA:306550
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Pulmonary artery atresia, Left superior vena cava draining directly to the left atrium, Ventricul... OMIM:613759
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities
Abnormally low T cell receptor excision circle level, Thin eyebrow, Eosinophilia OMIM:618092
Pulmonic Stenosis
Pulmonic stenosis OMIM:265500
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Tetralogy of Fallot, Abnormal aortic morphology, Abnormality of the pulmonary artery, Ventricular... ORPHA:1166
Methimazole Embryofetopathy
Coarctation of aorta, Abnormal aortic morphology, Ventricular septal defect ORPHA:1923
Lethal Congenital Contracture Syndrome 10
Cardiomegaly, Overriding aorta, Ventricular septal defect OMIM:617022
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Peripheral arterial stenosis, Ventricular septal defect, Patent ductus arteriosus, Varicose veins OMIM:126320
Isolated Anencephaly/Exencephaly
Anencephaly ORPHA:1048
Esophagitis, Eosinophilic, 2
Eosinophilia OMIM:613412
Esophagitis, Eosinophilic, 1
Eosinophilia OMIM:610247
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Congenitally Corrected Transposition Of The Great Arteries
Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Atrial... ORPHA:216694
Aortic Aneurysm, Familial Thoracic 10
Aortic root aneurysm, Aortic arch aneurysm, Abdominal aortic aneurysm, Coronary artery atheroscle... OMIM:617168
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Alopecia, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, Decrease... ORPHA:169154
Pyknoachondrogenesis
Stillbirth OMIM:265880
Heart Defects, Congenital, And Other Congenital Anomalies
Interrupted aortic arch, Total absence of the pericardium, Hypoplastic tricuspid valve, Tetralogy... OMIM:600001
Transketolase Deficiency
Abnormal heart morphology, Patent foramen ovale, Ventricular septal defect, Atrial septal defect,... ORPHA:488618
Mungan Syndrome
Perimembranous ventricular septal defect, Pulmonic stenosis OMIM:611376
Waardenburg Syndrome, Type 2F
Hypopigmentation of the skin, White hair, Premature graying of hair, White forelock, Heterochromi... OMIM:619947
Eosinophilic Gastroenteritis
Hypoalbuminemia, Leukocytosis, Eosinophilia, Anemia, Elevated circulating C-reactive protein conc... ORPHA:2070
Phosphoribosylpyrophosphate Synthetase Superactivity
Abnormal aortic morphology, Cardiomyopathy ORPHA:3222
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Abnormal heart morphology, Muscular ventricular septal defect, Perimembranous ventricular septal ... ORPHA:363444
Mass Syndrome
Aortic aneurysm, Ascending aortic dissection, Mitral valve prolapse OMIM:604308
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Splenomegaly, Elevated proportion of CD4-negative, CD8-negative, alp... OMIM:601859
Cardiac Diverticulum
Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, A... ORPHA:1686
Griscelli Syndrome Type 3
Partial albinism, Hypopigmentation of hair, Iris hypopigmentation ORPHA:79478
Familial Cerebral Saccular Aneurysm
Abnormal circle of Willis morphology, Aortic root aneurysm, Aortic dissection, Atherosclerosis, T... ORPHA:231160
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Hypoplastic left heart, Anomalous origin of left coronary artery from the pulmonary artery, Bicus... OMIM:618845
Albinism, Oculocutaneous, Type Ib
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:606952
Noonan Syndrome 9
Coarctation of aorta, Pulmonic stenosis, Ventricular septal defect OMIM:616559
Snijders Blok-Campeau Syndrome
Perimembranous ventricular septal defect, Atrial septal defect, Pulmonic stenosis OMIM:618205
Woolly Hair
Sparse lateral eyebrow, Fine hair, Sparse body hair, Slow-growing hair, Brittle hair, Abnormality... ORPHA:170
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Hypoplastic left heart, Abnormal aortic arch morphology, Arteria lusoria, Abnormal descending aor... ORPHA:99050
Immunodeficiency 11B With Atopic Dermatitis
Eosinophilia OMIM:617638
Ciliary Dyskinesia, Primary, 52
Hypoplastic left heart, Total anomalous pulmonary venous return, Mitral atresia, Situs inversus t... OMIM:620570
Partial Atrioventricular Septal Defect
Aortic valve stenosis, Hypoplastic left heart, Bacterial endocarditis, Coronary sinus enlargement... ORPHA:1330
Sandestig-Stefanova Syndrome
Muscular ventricular septal defect, Perimembranous ventricular septal defect OMIM:618804
Aortic Aneurysm, Familial Abdominal, 1
Abdominal aortic aneurysm OMIM:100070
Rhabdoid Tumor
Anemia, Hypercalcemia, Thrombocytopenia ORPHA:69077
Atrial Septal Defect 1
Aortic valve stenosis, Secundum atrial septal defect, Tetralogy of Fallot with pulmonary atresia,... OMIM:108800
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Secundum atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Left ventricular h... OMIM:108900
Fixed Subaortic Stenosis
Bacterial endocarditis, Abnormal heart morphology, Atrioventricular canal defect, Ventricular sep... ORPHA:3092
15Q11.2 Microdeletion Syndrome
Total anomalous pulmonary venous return, Tetralogy of Fallot, Abnormal heart morphology, Ventricu... ORPHA:261183
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Elevated circulating creatine kinase concentration OMIM:615883
Marfanoid Habitus With Situs Inversus
Aortic root aneurysm, Situs inversus totalis, Mitral valve prolapse, Persistent left superior ven... OMIM:609008
Isolated Right Ventricular Hypoplasia
Muscular ventricular septal defect, Patent foramen ovale, Cardiomegaly, Atrial septal defect, Rig... ORPHA:439
Familial Bicuspid Aortic Valve
Aortic valve stenosis, Aortic valve calcification, Hypoplastic left heart, Thoracic aorta calcifi... ORPHA:402075
Congenital Disorder Of Glycosylation, Type Ih
Perimembranous ventricular septal defect, Patent ductus arteriosus OMIM:608104
Hypophosphatasia
Anemia, Hypercalcemia ORPHA:436
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Ventricular septal defect, Abnormal aortic morphology, Truncus arteriosus ORPHA:2516
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Congenital Alveolar Capillary Dysplasia
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect... ORPHA:210122
Transaldolase Deficiency
Biventricular hypertrophy, Coarctation of aorta, Atrial septal defect ORPHA:101028
Pseudohypoparathyroidism Type 2
Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia ORPHA:94090
Scimitar Syndrome
Anomalous origin of left coronary artery from the pulmonary artery, Ventricular septal defect, Le... ORPHA:185
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Alopecia, Decreased FOXP3-expressing T cell count, Eosinophilia, Coombs-positive hemolytic anemia... OMIM:304790
Lipodystrophy, Congenital Generalized, Type 3
Hepatosplenomegaly, Hypocalcemia, Splenomegaly, Hirsutism, Hypercholesterolemia, Hypertriglycerid... OMIM:612526
Eosinophilic Fasciitis
Eosinophilia, Abnormal eosinophil morphology ORPHA:3165
Houge-Janssens Syndrome 3
Muscular ventricular septal defect, Atrial septal defect OMIM:618354
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Coarctation of aorta, Subvalvular aortic stenosis, Complete atrioventricular canal defect OMIM:217085
Immunodeficiency 49
Abnormally low T cell receptor excision circle level, Lymphopenia, Hirsutism, Eosinophilia, Impai... OMIM:617237
Nephronophthisis 16
Aortic valve stenosis, Hypertrophic cardiomyopathy, Situs inversus totalis, Patent ductus arterio... OMIM:615382
Blue Diaper Syndrome
Hypercalcemia, Hyperphosphatemia ORPHA:94086
Albinism, Oculocutaneous, Type Iv
Albinism, Hypopigmentation of hair, Blue irides OMIM:606574
Truncus Arteriosus
Abnormal coronary artery morphology, Ventricular septal defect, Single coronary artery origin, At... ORPHA:3384
Transposition Of The Great Arteries, Dextro-Looped
Transposition of the great arteries OMIM:608808
Omenn Syndrome
Alopecia, Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Eosinophilia, Aplasia/Hypop... ORPHA:39041
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalcemia OMIM:239199
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Atrial septal defect, Pulmonic stenosis, Ventricular septal defect OMIM:614262
Griscelli Syndrome Type 2
Iris hypopigmentation, Hemophagocytosis, Premature graying of hair, Partial albinism, Pancytopeni... ORPHA:79477
Waardenburg Syndrome, Type 2B
Heterochromia iridis, White forelock, Premature graying of hair OMIM:600193
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Interrupted aortic arch, Coarctation of aorta OMIM:107550
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Eosinophilia OMIM:618523
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Splenomegaly, Elevated proportion of CD4-negative, CD8-negative, alp... OMIM:603909
Autosomal Dominant Severe Congenital Neutropenia
Aplastic anemia, Lymphopenia, Eosinophilia, Acute myeloid leukemia, Neutropenia, Monocytosis, Leu... ORPHA:486
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Hypoplastic left heart, Patent ductus arteriosus, Abnormal aortic morphology ORPHA:2001
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Descending thoracic aorta aneurysm, Aortic root aneurysm, Mucoid extracellular matrix accumulatio... ORPHA:91387
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections
Eosinophilia OMIM:620532
Ciliary Dyskinesia, Primary, 37
Situs inversus totalis, Right aortic arch, Dextrocardia OMIM:617577
Oculoskeletodental Syndrome
Abnormality of the frontal hairline, Hypercalcemia, Hypocalcemia ORPHA:557003
Pheochromocytoma--Islet Cell Tumor Syndrome
Cafe-au-lait spot, Hypercalcemia, Axillary freckling OMIM:171420
Idiopathic Chronic Eosinophilic Pneumonia
Elevated circulating C-reactive protein concentration, Hypereosinophilia, Leukocytosis ORPHA:2902
Cardiomyopathy, Familial Restrictive, 3
Right atrial enlargement, Aortic aneurysm, Restrictive cardiomyopathy, Myocardial sarcomeric disa... OMIM:612422
Netherton Syndrome
Brittle scalp hair, Sparse eyebrow, Hypereosinophilia, Brittle hair, Sparse scalp hair OMIM:256500
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia ORPHA:2239
Intellectual Developmental Disorder, Autosomal Dominant 66
Cerebral cavernous malformation, Secundum atrial septal defect, Aortic root aneurysm, Transpositi... OMIM:619910
Roifman Syndrome
Eosinophilia, Hepatosplenomegaly, Prominent eyelashes, Hyperconvex nail ORPHA:353298
Infantile Myofibromatosis
Abnormal hair morphology, Irregular hyperpigmentation, Hypercalcemia ORPHA:2591
Cardiac Valvular Dysplasia 2
Pulmonary artery dilatation, Bicuspid aortic valve, Subvalvular aortic stenosis, Dysplastic aorti... OMIM:620067
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Unbalanced atrioventricular canal defect, Dextrotransposition of the great arteries, Ventricular ... OMIM:619657
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Ventricular hypertrophy, Abnormal heart morphology, Ventricular septal defect, Bicuspid aortic va... ORPHA:284169
Paget Disease Of Bone 6
Left ventricular hypertrophy, Coronary artery atherosclerosis OMIM:616833
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Secundum atrial septal defect, Pulmonic stenosis OMIM:178650
Left Ventricular Noncompaction 1
Hypoplastic left heart, Left ventricular noncompaction, Left ventricular noncompaction cardiomyop... OMIM:604169
Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome
Abnormal heart valve morphology, Pulmonic stenosis, Mitral valve prolapse ORPHA:2868
Hypercalcemia, Infantile, 1
Hypercalcemia OMIM:143880
Feingold Syndrome Type 1
Interrupted aortic arch, Abnormal heart morphology, Multiple muscular ventricular septal defects,... ORPHA:391641
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Coarctation of aorta, Ventricular septal defect OMIM:620210
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Eosinophilia, Alopecia, Cutaneous abscess, Sterile abscess OMIM:618282
Abdominal Obesity-Metabolic Syndrome 3
Stroke, Coronary artery stenosis OMIM:615812
Holt-Oram Syndrome
Hypoplastic left heart, Atrioventricular canal defect, Abnormal aortic morphology, Ventricular se... ORPHA:392
Linear Skin Defects With Multiple Congenital Anomalies 1
Overriding aorta, Atrial septal defect, Histiocytoid cardiomyopathy, Ventricular septal defect OMIM:309801
Idiopathic Acute Eosinophilic Pneumonia
Abnormal eosinophil morphology ORPHA:724
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Waardenburg Syndrome, Type 4B
Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Whit... OMIM:613265
Roifman Syndrome
Eosinophilia, Prominent eyelashes, Splenomegaly OMIM:616651
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Splenomegaly, Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration OMIM:619658
Oculoskeletodental Syndrome
Splenomegaly, Hypocalcemia, Low anterior hairline, Low posterior hairline, Hypercalcemia OMIM:618440
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Coarctation of aorta, Right aortic arch OMIM:140850
Craniotelencephalic Dysplasia
Optic nerve hypoplasia, Frontal encephalocele, Hypotelorism, Microphthalmia OMIM:218670
Incontinentia Pigmenti
Alopecia, Coarse hair, Fine hair, Supernumerary nipple, Breast aplasia, Breast hypoplasia, Ridged... OMIM:308300
O'Sullivan-Mcleod Syndrome
Eosinophilia ORPHA:99965
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Vitiligo, Macrocytic anemia, Hyperuricemia, Hyponatremia, Eosinophilia, Hyperc... ORPHA:199299
Immunodeficiency 25
Eosinophilia, T lymphocytopenia, Autoimmune hemolytic anemia OMIM:610163
Immunodeficiency 60 And Autoimmunity
Decreased proportion of memory B cells, Pancytopenia, Decreased basophil count, Splenomegaly OMIM:618394
Sotos Syndrome
Muscular ventricular septal defect, Atrial septal defect, Patent ductus arteriosus, Ventricular s... OMIM:117550
Gombo Syndrome
Microphthalmia OMIM:233270
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypercalcemia OMIM:614732
Double Outlet Right Ventricle
Hypoplastic left heart, Tetralogy of Fallot, Truncus arteriosus, Ventricular septal defect, Coarc... ORPHA:3426
Chromosome 9P Deletion Syndrome
Atrial septal defect, Patent ductus arteriosus, Perimembranous ventricular septal defect, Ventric... OMIM:158170
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Hypercalcemia, Elevated creatine kinase after exercise ORPHA:284426
Familial Isolated Hyperparathyroidism
Hypophosphatemia, Hypercalcemia ORPHA:99879
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chronic lymphatic... ORPHA:98849
Isobutyryl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Pulmonic stenosis ORPHA:79159
Hypoplastic Left Heart Syndrome 2
Hypoplastic left heart, Aortic valve atresia, Mitral atresia, Ventricular septal defect OMIM:614435
Joubert Syndrome 15
Exencephaly OMIM:614464
Waardenburg Syndrome, Type 2A
Premature graying of hair, Partial albinism, White forelock, Numerous pigmented freckles, Heteroc... OMIM:193510
Progressive Familial Intrahepatic Cholestasis
Splenomegaly, Hypocalcemia ORPHA:172
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Dysplastic pulmonary valve OMIM:300958
Weill-Marchesani Syndrome
Aortic valve stenosis, Pulmonic stenosis, Ventricular septal defect ORPHA:3449
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Atrioventricular canal defect, Abnormal aortic valve morphology, Bicuspid aortic valve, Coarctati... ORPHA:1120
Intellectual Developmental Disorder, Autosomal Dominant 21
Coarctation of aorta, Patent ductus arteriosus, Atrial septal defect OMIM:615502
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hypokalemia, Hyponatremia, Hypocalcemia, Hypomagnesemia OMIM:620152
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Abnormally low T cell receptor excision circle level, Lymphopenia, Alopecia of scalp, Splenomegal... OMIM:602450
Ritscher-Schinzel Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Ventricular septal defect, Do... OMIM:220210
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Ventricular septal defect, Truncus arteriosus OMIM:601355
Diabetic Embryopathy
Tetralogy of Fallot, Abnormal aortic morphology, Abnormality of the pulmonary artery, Ventricular... ORPHA:1926
Phace Association
Arterial stenosis, Ventricular septal defect, Aortic aneurysm, Coarctation of aorta, Anomalous br... OMIM:606519
Autoinflammation With Arthritis And Dyskeratosis
Elevated circulating C-reactive protein concentration, Splenomegaly, Hypereosinophilia, Autoimmun... OMIM:617388
Refractory Celiac Disease
Hypoalbuminemia, Normocytic anemia, Hypomagnesemia, Microcytic anemia, Abnormal spleen physiology... ORPHA:398063
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Alopecia, Hypomagnesemia, Hypocalcemia, Nail dystrophy, Hypokalemia, Nail dysplasia, Hyperpigment... OMIM:175500
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Lymphopenia, Hepatosplenomegaly, Decreased proportion of CD3-positive T ce... ORPHA:331206
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Aortic root aneurysm, Atrial septal defect, Ventricular septal defect OMIM:301039
Isotretinoin-Like Syndrome
Abnormality of the pulmonary veins, Abnormal aortic arch morphology, Aortic valve stenosis, Abnor... ORPHA:2306
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Lymphopenia, Hepatosplenomegaly, Decreased proportion of CD3-positive T cells, Eosinophilia ORPHA:169160
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of the skin, Freckles in sun-exposed areas, Blue irides, Albinism, Red hair, Hyp... OMIM:203200
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilia, Hepatosplenomegaly OMIM:618999
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia OMIM:145001
Chromosome 6Q24-Q25 Deletion Syndrome
Mitral valve prolapse, Dysplastic tricuspid valve, Patent ductus arteriosus, Dysplastic pulmonary... OMIM:612863
Uremic Pruritus
Renal hypophosphatemia, Hypermagnesemia, Hypercalcemia, Increased blood urea nitrogen ORPHA:94059
Mucoepithelial Dysplasia, Hereditary
Alopecia, Coarse hair, Chronic monilial nail infection, Nail dystrophy, Nail dysplasia, Eosinophi... OMIM:158310
Hypophosphatasia, Infantile
Elevated plasma pyrophosphate, Anemia, Hypercalcemia OMIM:241500
Short Stature, Developmental Delay, And Congenital Heart Defects
Atrial septal defect, Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect OMIM:617044
Prune Belly Syndrome With Pulmonic Stenosis, Impaired Intellectual Development, And Deafness
Pulmonic stenosis OMIM:264140
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Hypopigmentation of hair, Generalized hyperpigmentation ORPHA:1355
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypercalcemia OMIM:145980
Oculocutaneous Albinism, Type Viii
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:619165
Structural Heart Defects And Renal Anomalies Syndrome
Interrupted aortic arch, Tetralogy of Fallot, Right aortic arch, Truncus arteriosus, Ventricular ... OMIM:617478
Hypocalcemia, Autosomal Dominant 1
Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Increased circulating renin level OMIM:601198
Igg4-Related Aortitis
Elevated circulating C-reactive protein concentration, Hypereosinophilia ORPHA:449400
Allergic Bronchopulmonary Aspergillosis
Abnormal fingernail morphology, Abnormal eosinophil morphology ORPHA:1164
Waardenburg Syndrome Type 2
Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Hypo... ORPHA:895
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:146200
Recombinant Chromosome 8 Syndrome
Tetralogy of Fallot, Ventricular septal defect, Double outlet right ventricle, Atrial septal defe... OMIM:179613
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Hypocalcemia OMIM:619073
Skraban-Deardorff Syndrome
Right aortic arch, Ventricular septal defect OMIM:617616
Non-Functioning Paraganglioma
Hypercalcemia ORPHA:94080
Acute Generalized Exanthematous Pustulosis
Leukocytosis, Eosinophilia, Hyperpigmentation of the skin, Neutropenia, Neutrophilia ORPHA:293173
Meacham Syndrome
Hypoplastic left heart, Tetralogy of Fallot, Scimitar anomaly, Right aortic arch, Ventricular sep... OMIM:608978
Chromosome 18Q Deletion Syndrome
Aortic valve stenosis, Absence of the pulmonary valve, Ventricular septal defect, Dysplastic pulm... OMIM:601808
Hyperparathyroidism, Neonatal Severe
Splenomegaly, Hypophosphatemia, Calcinosis, Anemia, Hypercalcemia OMIM:239200
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Hepatosplenomegaly, Autoimmune hemolytic anemia, Eosinophilia, Neutropenia in presence of anti-ne... OMIM:615952
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta
Cardiomyopathy, Endocardial fibroelastosis, Coarctation of abdominal aorta OMIM:226100
Ermine Phenotype
Spotty hyperpigmentation, White hair, Vitiligo, White eyebrow, White eyelashes, Abnormal iris pig... OMIM:227010
Boudin-Mortier Syndrome
Aortic root aneurysm, Mitral valve prolapse OMIM:619543
Hypotrichosis 8
Sparse eyebrow, Dry hair, Coarse hair, Fair hair, Ridged nail, Sparse eyelashes, Sparse axillary ... OMIM:278150
Catel-Manzke Syndrome
Overriding aorta, Coarctation of aorta, Dextrocardia, Ventricular septal defect OMIM:616145
Coronary Arterial Fistula
Aortic valve stenosis, Bacterial endocarditis, Right ventricular dilatation, Abnormal heart morph... ORPHA:2041
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Multiple muscular ventricular septal defects, Pulmonic stenosis OMIM:615508
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Hypercalcemia OMIM:145981
Microphthalmia/Coloboma 6
Hypoplasia of the fovea, Optic disc hypoplasia, Bilateral microphthalmos OMIM:613703
Acute Adrenal Insufficiency
Normocytic anemia, Vitiligo, Hyperuricemia, Hyponatremia, Sparse axillary hair, Hyperpigmentation... ORPHA:95409
Microphthalmia/Coloboma 5
Holoprosencephaly, Anophthalmia, Bilateral microphthalmos, Microphthalmia OMIM:611638
Monosomy 18Q
Aortic valve stenosis, Secundum atrial septal defect, Absence of the pulmonary valve, Aortic aneu... ORPHA:1600
Hereditary Folate Malabsorption
Eosinophilia, Pancytopenia, Megaloblastic anemia, Thrombocytopenia ORPHA:90045
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemia, Hypophosphatemic rickets, Hypercalcemia OMIM:612089
Cerebrooculofacioskeletal Syndrome 3
Micrognathia, Microphthalmia OMIM:616570
Phaver Syndrome
Pulmonary artery atresia, Hypoplastic aortic arch, Coarctation of aorta, Ventricular septal defect ORPHA:2876
2P21 Microdeletion Syndrome
Long eyelashes, Hypocalcemia ORPHA:163693
Meacham Syndrome
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Conotruncal defect, Situs inv... ORPHA:3097
Apert Syndrome
Overriding aorta, Ventricular septal defect OMIM:101200
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:2786
Elejalde Neuroectodermal Melanolysosomal Syndrome
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... OMIM:256710
Ectopia Lentis 1, Isolated, Autosomal Dominant
Aortic root aneurysm, Mitral valve prolapse OMIM:129600
Dilated Cardiomyopathy With Ataxia
Muscular ventricular septal defect, Dilated cardiomyopathy ORPHA:66634
Hereditary Arterial And Articular Multiple Calcification Syndrome
Coronary artery calcification, Arterial calcification, Abnormal vascular morphology, Arterial tor... ORPHA:289601
Lessel-Kreienkamp Syndrome
Patent foramen ovale, Bicuspid aortic valve, Atrial septal defect, Patent ductus arteriosus, Pulm... OMIM:619149
Pseudohypoparathyroidism, Type Ib
Hyperphosphatemia, Hypocalcemia OMIM:603233
Rhizomelic Syndrome
Pulmonic stenosis OMIM:268250
Noonan Syndrome 11
Hypertrophic cardiomyopathy, Atrial septal defect, Pulmonic stenosis OMIM:618499
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Tetralogy of Fallot, Atrioventricular canal defect, Ventricular septal defect, Truncus arteriosus... ORPHA:508498
Woolly Hair Nevus
Congenital posterior occipital alopecia, Fine hair, Woolly scalp hair, Heterochromia iridis, Curl... ORPHA:79414
Aural Atresia, Multiple Congenital Anomalies, And Impaired Intellectual Development
Ventricular septal defect OMIM:209770
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Muscular ventricular septal defect OMIM:619227
Piebald Trait-Neurologic Defects Syndrome
Irregular hyperpigmentation, Hypopigmented skin patches, Abnormal eyebrow morphology, Heterochrom... ORPHA:2885
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Abnormal hair morphology, Dystrophic fingernails, Eosinophilia, Paronychia ORPHA:2314
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Tetralogy of Fallot, Overriding aorta ORPHA:3186
Glucose-Galactose Malabsorption
Hypercalcemia, Hypernatremia ORPHA:35710
Sarcosinemia
Hypertrophic cardiomyopathy, Pulmonic stenosis ORPHA:3129
Neural Tube Defects, Susceptibility To
Myelomeningocele, Spina bifida occulta, Anencephaly, Hydrocephalus OMIM:182940
Chronic Atrial And Intestinal Dysrhythmia
Bicuspid aortic valve, Left atrial enlargement, Pulmonic stenosis OMIM:616201
Neuroectodermal Melanolysosomal Disease
Hypopigmentation of hair, Hypopigmentation of the skin, Generalized hyperpigmentation, Premature ... ORPHA:33445
Craniotelencephalic Dysplasia
Septo-optic dysplasia, Hydrocephalus, Frontal encephalocele, Microphthalmia ORPHA:1528
Alagille Syndrome 2
Tetralogy of Fallot, Peripheral pulmonary artery stenosis, Atrial septal defect, Pulmonic stenosis OMIM:610205
Pgm3-Cdg
Bone marrow hypocellularity, Reduced natural killer cell count, Abnormal CD4:CD8 ratio, Cutaneous... ORPHA:443811
Tangier Disease
Accelerated atherosclerosis, Carotid artery stenosis, Left ventricular hypertrophy, Coronary arte... ORPHA:31150
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Micrognathia, Proptosis, Microphthalmia OMIM:616171
Oculocutaneous Albinism Type 3
Iris hypopigmentation, Generalized hypopigmentation of hair, Hypopigmentation of the skin, Absent... ORPHA:79433
Griscelli Syndrome Type 1
Iris hypopigmentation, White hair, Premature graying of hair, Partial albinism, Hyperlipidemia ORPHA:79476
Primary Triglyceride Deposit Cardiomyovasculopathy
Coronary artery stenosis, Cardiomyopathy, Abnormal cardiomyocyte morphology, Renal artery atheros... ORPHA:565612
X-Linked Agammaglobulinemia
Alopecia, Hypopigmented skin patches, Hypocalcemia, Neutropenia, Thrombocytopenia, Anemia, Recurr... ORPHA:47
Combined Immunodeficiency Due To Zap70 Deficiency
Decreased proportion of CD8-positive T cells, Hepatosplenomegaly, Autoimmune hemolytic anemia, Eo... ORPHA:911
Hypermethioninemia Due To Adenosine Kinase Deficiency
Coarctation of aorta, Secundum atrial septal defect, Pulmonic stenosis OMIM:614300
Hoxha-Aliu Syndrome
Perimembranous ventricular septal defect, Atrial septal defect OMIM:620662
Microphthalmia/Coloboma 4
Microphthalmia OMIM:251505
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect, Pulmonary lymphangiectasi... OMIM:265380
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Ventricular septal defect OMIM:235750
Paternal Uniparental Disomy Of Chromosome 1
Hypercalcemia, Increased blood urea nitrogen, Episodic hemolytic anemia ORPHA:251004
22Q11.2 Duplication Syndrome
Interrupted aortic arch, Hypoplastic left heart, Tetralogy of Fallot, Ventricular septal defect, ... ORPHA:1727
Bartsocas-Papas Syndrome 2
Micrognathia, Wide anterior fontanel, Microphthalmia OMIM:619339
Noonan Syndrome 8
Hypertrophic cardiomyopathy, Ventricular septal defect, Left ventricular hypertrophy, Atrial sept... OMIM:615355
Yuan-Harel-Lupski Syndrome
Bicuspid aortic valve, Aortic root aneurysm, Ventricular septal defect, Double outlet right ventr... OMIM:616652
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Tetralogy of Fallot, Mitral valve prolapse, Ventricular septal defect, A... OMIM:612561
Hartsfield Syndrome
Microphthalmia, Encephalocele, Lobar holoprosencephaly, Hypertelorism ORPHA:2117
Alg12-Cdg
Biventricular hypertrophy, Patent ductus arteriosus, Patent foramen ovale, Muscular ventricular s... ORPHA:79324
Microcephaly-Microcornea Syndrome, Seemanova Type
Retrognathia, Microphthalmia ORPHA:2528
Metachondromatosis
Pulmonic stenosis OMIM:156250
Polyvalvular Heart Disease Syndrome
Aortic valve stenosis, Pulmonic stenosis, Abnormal heart valve morphology, Mitral valve prolapse ORPHA:228410
Weill-Marchesani Syndrome 3
Aortic valve stenosis, Pulmonic stenosis OMIM:614819
Cardiofaciocutaneous Syndrome 3
Hypertrophic cardiomyopathy, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect OMIM:615279
Cardiospondylocarpofacial Syndrome
Muscular ventricular septal defect, Patent foramen ovale, Dysplastic tricuspid valve, Ventricular... OMIM:157800
Tetrasomy 15Q26
Hypoplastic aortic arch, Patent ductus arteriosus, Atrial septal defect OMIM:614846
Incontinentia Pigmenti
Alopecia, Ridged fingernail, Irregular hyperpigmentation, Hypopigmented skin patches, Dystrophic ... ORPHA:464
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Muscular ventricular septal defect OMIM:618569
Autosomal Dominant Hypophosphatemic Rickets
Tooth abscess, Hypophosphatemia, Hypocalcemia, Iron deficiency anemia ORPHA:89937
Waardenburg-Shah Syndrome
Premature graying of hair, Abnormal eyebrow morphology, White forelock, Abnormality of retinal pi... ORPHA:897
Cap Myopathy
Aortic root aneurysm, Mitral valve prolapse ORPHA:171881
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Occipital encephalocele, Hydrocephalus, Microphthalmia ORPHA:324416
Adams-Oliver Syndrome 4
Microphthalmia, Umbilical hernia OMIM:615297
Aspergillosis
Eosinophilia, Neutropenia ORPHA:1163
Generalized Pustular Psoriasis
Hypoalbuminemia, Lymphopenia, Leukocytosis, Hypocalcemia, Hyponatremia, Elevated circulating C-re... ORPHA:247353
Heterotaxy, Visceral, 1, X-Linked
Ventricular septal defect, Left superior vena cava draining to coronary sinus, Atrial septal defe... OMIM:306955
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Hypercalcemia, Hyperphosphatemia, Calcinosis OMIM:211900
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Colchicine Poisoning
Alopecia, Hypomagnesemia, Leukocytosis, Hypocalcemia, Hypokalemia, Hyponatremia, Hypophosphatemia... ORPHA:31824
Multifocal Atrial Tachycardia
Hypertrophic cardiomyopathy, Ventricular septal defect, Atrial septal defect, Left ventricular di... ORPHA:3282
Fryns Microphthalmia Syndrome
Anophthalmia, Neural tube defect, Microphthalmia OMIM:600776
Heterotaxy, Visceral, 5, Autosomal
Total anomalous pulmonary venous return, Atrioventricular canal defect, Dextrotransposition of th... OMIM:270100
Inflammatory Skin And Bowel Disease, Neonatal, 2
Coarctation of aorta OMIM:616069
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia ORPHA:2432
Mmep Syndrome
Mandibular prognathia, Microphthalmia ORPHA:3434
Mullegama-Klein-Martinez Syndrome
Hypoplastic left heart, Apical muscular ventricular septal defect, Coarctation of aorta OMIM:301022
Branchial Arch Syndrome, X-Linked
Pulmonic stenosis OMIM:301950
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Hypophosphatemia, Hypercalcemia OMIM:600740
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Atrial septal defect, Vascular ring, Ventricular septal defect OMIM:603387
Cardiomyopathy, Familial Restrictive, 6
Restrictive cardiomyopathy, Pulmonic stenosis OMIM:619433
Smooth Muscle Dysfunction Syndrome
Pulmonary artery dilatation, Dilatation of the cerebral artery, Aortic arch aneurysm, Common caro... OMIM:613834
Nanophthalmos
Microphthalmia ORPHA:35612
Addison Disease
Normocytic anemia, Vitiligo, Hyperuricemia, Thiamine-responsive megaloblastic anemia, Hyponatremi... ORPHA:85138
Hermansky-Pudlak Syndrome 3
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin, Abnormal number of dense granules OMIM:614072
Waardenburg Syndrome, Type 4A
Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Whit... OMIM:277580
Frontonasal Dysplasia 1
Cranium bifidum occultum, Hypoplasia of the maxilla, Anterior basal encephalocele, Microphthalmia... OMIM:136760
Griscelli Syndrome
Silver-gray hair, Iris hypopigmentation, Bone marrow hypocellularity, Hypopigmented skin patches,... ORPHA:381
Fliedner-Zweier Syndrome
Bicuspid aortic valve, Hypoplastic aortic arch, Ventricular septal defect OMIM:620511
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Muscular ventricular septal defect, Truncus arteriosus, Bicuspid aortic valve, Coarctation of aor... OMIM:612474
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Cystic Echinococcosis
Peritoneal abscess, Hyperbilirubinemia, Splenic cyst, Abscess, Eosinophilia ORPHA:400
Immunodeficiency 23
Lymphopenia, Abscess, Eosinophilia, Neutropenia, Hemolytic anemia OMIM:615816
Aortic Arch Interruption
Abnormal heart morphology, Truncus arteriosus, Ventricular septal defect, Bicuspid aortic valve, ... ORPHA:2299
Lmna-Related Cardiocutaneous Progeria Syndrome
Aortic valve stenosis, Ventricular hypertrophy, Aortic root aneurysm, Aortic atherosclerotic lesi... ORPHA:363618
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
8P23.1 Microdeletion Syndrome
Hypoplastic left heart, Tetralogy of Fallot, Hypertrophic cardiomyopathy, Atrioventricular canal ... ORPHA:251071
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Dysplastic pulmonary valve, Ventricular septal defect OMIM:619103
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Absent pulmonary artery, Tetralogy of Fallot, Ventricular septal defect, Coarctation of aorta, Pa... OMIM:600460
Congenital Disorder Of Glycosylation, Type Iie
Perimembranous ventricular septal defect, Secundum atrial septal defect OMIM:608779
Spondyloepiphyseal Dysplasia, Nishimura Type
Hyperphosphatemia, Hypocalcemia OMIM:618618
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Dilated cardiomyopathy, Premature coronary artery atherosclerosis, Moyamoya phenomenon, Stroke-li... OMIM:300845
Loeys-Dietz Syndrome 2
Aortic root aneurysm, Generalized arterial tortuosity, Abdominal aortic aneurysm, Mitral valve pr... OMIM:610168
Arterial Calcification, Generalized, Of Infancy, 1
Dilated cardiomyopathy, Arterial stenosis, Carotid artery calcification, Renal artery stenosis, C... OMIM:208000
46,Xx Sex Reversal 5
Hypoplastic left heart, Secundum atrial septal defect, Ventricular septal defect OMIM:618901
Loeffler Endocarditis
Eosinophilia ORPHA:75566
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hypercalcemia, Hyperphosphatemia OMIM:617994
Microphthalmia, Syndromic 9
Hypoplastic left atrium, Right aortic arch with mirror image branching, Tetralogy of Fallot, Trun... OMIM:601186
2Q24 Microdeletion Syndrome
Microphthalmia, Hypertelorism ORPHA:1617
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10
Descending aortic dissection, Ascending aortic dissection OMIM:620080
Halperin-Birk Syndrome
Perimembranous ventricular septal defect OMIM:618651
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia OMIM:179800
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Abnormal heart morphology, Patent foramen ovale, Ventricular septal defect, Persistent left super... OMIM:618494
Otosclerosis 8
Otosclerosis OMIM:612096
Otosclerosis 3
Otosclerosis OMIM:608244
Thymic Neuroendocrine Tumor
Hypercalcemia ORPHA:97289
Monosomy 13Q34
Hypercalcemia, Horizontal eyebrow ORPHA:96168
Neurofibromatosis-Noonan Syndrome
Hypertrophic cardiomyopathy, Pulmonic stenosis ORPHA:638
Noonan Syndrome 10
Hypertrophic cardiomyopathy, Mitral stenosis, Mitral valve prolapse, Ventricular septal defect, C... OMIM:616564
Metaphyseal Chondrodysplasia, Jansen Type
Hypophosphatemia, Hypercalcemia OMIM:156400
Methionine Malabsorption Syndrome
Positive ferric chloride test, Blue irides, White hair OMIM:250900
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Eosinophilia, Reduced natural killer cell count, Decreased proportion of CD4-positive helper T ce... OMIM:243700
Ritscher-Schinzel Syndrome 3
Microphthalmia, Micrognathia, Wide anterior fontanel, Hypertelorism OMIM:619135
Microphthalmia, Syndromic 12
Retrognathia, Micrognathia, Anophthalmia, Microphthalmia OMIM:615524
Loeys-Dietz Syndrome 4
Aortic root aneurysm, Aortic dissection, Arterial tortuosity, Dilatation of the cerebral artery, ... OMIM:614816
Multiple Myeloma
Elevated circulating creatinine concentration, Splenomegaly, Anemia, Hyperproteinemia, Hypercalcemia ORPHA:29073
Contractural Arachnodactyly, Congenital
Aortic root aneurysm, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, At... OMIM:121050
Liddle Syndrome 2
Hypokalemia, Decreased circulating renin level OMIM:618114
Liddle Syndrome 3
Hypokalemia, Decreased circulating renin level OMIM:618126
Distal Deletion 19P
Tricuspid valve prolapse, Pulmonary valve atresia, Ventricular septal defect ORPHA:96129
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Reduced blood urea nitrogen, Decreased serum creatinine, Decreased circulating reni... OMIM:300539
Iga Pemphigus
Eosinophilia, Cutaneous abscess ORPHA:555905
Paget Disease Of Bone 2, Early-Onset
Hypercalcemia OMIM:602080
Primary Intestinal Lymphangiectasia
Hypoalbuminemia, Hypomagnesemia, Lymphopenia, Hypocalcemia, Reduced proportion of CD4+ effector m... ORPHA:90362
Pheochromocytoma
Hypercalcemia, Cafe-au-lait spot OMIM:171300
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Microphthalmia, Micrognathia, Wide anterior fontanel, Hypertelorism ORPHA:163649
Myofibrillar Myopathy 11
Coarctation of aorta OMIM:619178
Immunodeficiency 89 And Autoimmunity
Elevated circulating C-reactive protein concentration, Decreased eosinophil count, Hypochromic mi... OMIM:619632
Transaldolase Deficiency
Patent foramen ovale, Ventricular septal defect, Coarctation of aorta, Atrial septal defect, Pate... OMIM:606003
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Perimembranous ventricular septal defect, Ventricular septal defect OMIM:301040
Congenital Aortic Valve Stenosis
Aortic valve stenosis, Aortic valve calcification, Endocardial fibroelastosis, Left ventricular h... ORPHA:3093
Spinal Cord Injury
Hypercalcemia ORPHA:90058
Craniofaciofrontodigital Syndrome
Aortic valve stenosis, Abnormal cerebral vascular morphology, Dilatation of the cerebral artery, ... ORPHA:363705
Hydrolethalus
Retrognathia, Micrognathia, Anophthalmia, Deeply set eye, Hydrocephalus, Microphthalmia, Anencephaly ORPHA:2189
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Lymphopenia, Autoimmune hemolytic anemia, Splenomegaly, Reduced red cell adenosine deaminase leve... OMIM:102700
Teebi Hypertelorism Syndrome 1
Aortic root aneurysm, Atrial septal defect, Ventricular septal defect OMIM:145420
Nanophthalmos 4
Microphthalmia OMIM:615972
Waardenburg Syndrome Type 1
Hypopigmented skin patches, White hair, Premature graying of hair, Abnormal hair morphology, Thic... ORPHA:894
Holt-Oram Syndrome
Hypoplastic left heart, Secundum atrial septal defect, Muscular ventricular septal defect, Left v... OMIM:142900
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Aortic dissection, Mitral valve prolapse, Pulmonary arteriovenous malformation, Stroke, Hepatic a... OMIM:175050
Renal-Hepatic-Pancreatic Dysplasia 2
Aortic valve stenosis, Hypertrophic cardiomyopathy, Situs inversus totalis, Truncus arteriosus, P... OMIM:615415
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, Coarctation of aorta, Do... ORPHA:371428
Piebaldism
Hypopigmented skin patches, White forelock, Heterochromia iridis, White eyebrow, White eyelashes,... ORPHA:2884
Microphthalmia/Coloboma 10
Anophthalmia, Microphthalmia OMIM:616428
Drug Reaction With Eosinophilia And Systemic Symptoms
Eosinophilia, Lymphocytosis ORPHA:139402
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemic tetany, Hypocalcemic seizures, Hypocalcemia ORPHA:93324
Absence Of The Pulmonary Artery
Abnormal coronary artery morphology, Tetralogy of Fallot, Abnormal inferior vena cava morphology,... ORPHA:980
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Hypercalcemia, Synophrys ORPHA:476126
Pierpont Syndrome
Microphthalmia, Hypertelorism, Deeply set eye ORPHA:487825
Oculocerebrocutaneous Syndrome
Orbital encephalocele, Anophthalmia, Microphthalmia OMIM:164180
Meckel Syndrome, Type 8
Occipital encephalocele, Encephalocele, Anophthalmia, Microphthalmia OMIM:613885
Cofs Syndrome
Micrognathia, Microphthalmia ORPHA:1466
Maternal Phenylketonuria
Hypoplastic left heart, Tetralogy of Fallot, Abnormal heart morphology, Ventricular septal defect... ORPHA:2209
Rubinstein-Taybi Syndrome 1
Hypoplastic left heart, Aortic isthmus hypoplasia, Mitral valve prolapse, Ventricular septal defe... OMIM:180849
Warburg Micro Syndrome 1
Microphthalmia, Micrognathia, Deeply set eye OMIM:600118
Familial Hypocalciuric Hypercalcemia
Renal hypophosphatemia, Hypermagnesemia, Hypocalcemic seizures, Hypercalcemia ORPHA:405
Temple-Baraitser Syndrome
Atrial septal defect, Pulmonic stenosis OMIM:611816
Ogden Syndrome
Peripheral pulmonary artery stenosis, Secundum atrial septal defect, Patent foramen ovale, Ventri... OMIM:300855
Williams Syndrome
Peripheral pulmonary artery stenosis, Abnormal cerebral vascular morphology, Tetralogy of Fallot,... ORPHA:904
Autoimmune Hypoparathyroidism
Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia ORPHA:36913
Charge Syndrome
Secundum atrial septal defect, Tetralogy of Fallot, Right aortic arch, Ventricular septal defect,... OMIM:214800
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Hydrocephalus, Microphthalmia OMIM:614830
Multiple Synostoses Syndrome 4
Otosclerosis OMIM:617898
Temtamy Syndrome
Microphthalmia, Micrognathia, Hypertelorism ORPHA:1777
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Coarctation of aorta, Patent ductus arteriosus, Atrial septal defect OMIM:614857
Oculocutaneous Albinism Type 4
Iris hypopigmentation, Hypopigmentation of the skin, White hair, Ocular albinism, Abnormality of ... ORPHA:79435
Aneurysm Of Sinus Of Valsalva
Stroke, Bacterial endocarditis, Dilatation of the sinus of Valsalva ORPHA:1054
Albers-Schönberg Osteopetrosis
Anemia, Hypocalcemia, Abnormal leukocyte morphology ORPHA:53
Malignant Migrating Focal Seizures Of Infancy
Aortopulmonary collateral arteries ORPHA:293181
Septopreoptic Holoprosencephaly
Coarctation of aorta ORPHA:280195
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Hypoplastic left heart, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Coa... OMIM:618748
Liddle Syndrome 1
Hypokalemia, Decreased circulating renin level OMIM:177200
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Atrial septal defect, Pulmonic stenosis OMIM:619239
Fumarase Deficiency
Perimembranous ventricular septal defect OMIM:606812
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Lymphopenia, Eosinophilia OMIM:617425
Serkal Syndrome
Pulmonic stenosis, Ventricular septal defect ORPHA:139466
Vogt-Koyanagi-Harada Disease
Hypopigmented skin patches, Premature graying of hair, Abnormal eyebrow morphology, Vitiligo, Abn... ORPHA:3437
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hypercalcemia ORPHA:276621
Eosinophilic Granulomatosis With Polyangiitis
Eosinophilia, Hypopigmented skin patches ORPHA:183
Pierpont Syndrome
Microphthalmia, Hypertelorism, Deeply set eye OMIM:602342
Arterial Tortuosity Syndrome
Aortic valve stenosis, Ventricular hypertrophy, Aortic root aneurysm, Generalized arterial tortuo... OMIM:208050
Xk Aprosencephaly Syndrome
Hypotelorism, Microphthalmia ORPHA:3469
Loeys-Dietz Syndrome 6
Ventricular hypertrophy, Vertebral artery aneurysm, Arterial tortuosity, Dilatation of the cerebr... OMIM:619656
Autoimmune Lymphoproliferative Syndrome
Bone marrow hypocellularity, Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive hel... ORPHA:3261
Microphthalmia, Isolated 4
Microphthalmia OMIM:613094
Otosclerosis 11
Otosclerosis OMIM:620576
Kenny-Caffey Syndrome, Type 1
Anemia, Hypocalcemia, Hypomagnesemia OMIM:244460
Dahlberg-Borer-Newcomer Syndrome
Generalized hirsutism, Anonychia, Hypocalcemia ORPHA:1563
Craniorachischisis
Spinal dysraphism, Myelomeningocele, Sirenomelia, Cervical spina bifida, Anencephaly ORPHA:63260
Acrocardiofacial Syndrome
Tetralogy of Fallot, Mitral stenosis, Ventricular septal defect, Truncus arteriosus, Coarctation ... ORPHA:2008
Cyclic Neutropenia
Lymphopenia, Cyclic neutropenia, Perianal abscess, Tooth abscess, Thrombocytopenia, Decreased eos... ORPHA:2686
Heart And Brain Malformation Syndrome
Microphthalmia, Wide anterior fontanel, Hypertelorism OMIM:616920
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy
Decreased circulating renin level OMIM:605115
Pseudohypoaldosteronism, Type Iic
Hyperchloremia, Hyperkalemia, Decreased circulating renin level OMIM:614492
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Microphthalmia, Hydrocephalus, Hypertelorism OMIM:602501
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Alopecia, Hypopigmentation of hair ORPHA:1067
Sifrim-Hitz-Weiss Syndrome
Tetralogy of Fallot, Ventricular septal defect, Coarctation of aorta, Atrial septal defect, Paten... OMIM:617159
Congenital Heart Defects And Skeletal Malformations Syndrome
Coarctation of aorta, Aortic root aneurysm, Atrial septal defect, Ventricular septal defect OMIM:617602
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypoalbuminemia, Alopecia, Hypomagnesemia, Hypocalcemia, Nail dystrophy, Decreased circulating pr... ORPHA:37042
Frontoocular Syndrome
Atrial septal defect, Pulmonic stenosis OMIM:605321
Tatton-Brown-Rahman Syndrome
Atrial septal defect, Aortic root aneurysm, Patent ductus arteriosus ORPHA:404443
Ehlers-Danlos Syndrome, Classic Type, 1
Aortic root aneurysm, Mitral valve prolapse OMIM:130000
Cat-Eye Syndrome
Microphthalmia, Hypertelorism ORPHA:195
X Small Rings
Bicuspid aortic valve, Aortic root aneurysm, Mitral stenosis, Ventricular septal defect ORPHA:96201
3P25.3 Microdeletion Syndrome
Ventricular septal defect, Coronary artery atherosclerosis, Atrial septal defect, Patent ductus a... ORPHA:435638
Fibrous Dysplasia Of Bone
Multiple cafe-au-lait spots, Hypophosphatemia, Hypercalcemia, Large cafe-au-lait macules with irr... ORPHA:249
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Secundum atrial septal defect, Partial atrioventricular canal defect, Ventricular septal defect, ... OMIM:620066
Foveal Hypoplasia 2
Hypoplasia of the fovea, Microphthalmia OMIM:609218
Otosclerosis 1
Otosclerosis OMIM:166800
Obesity And Hypopigmentation
Red hair OMIM:620195
Lissencephaly 8
Occipital encephalocele, Microphthalmia OMIM:617255
Otosclerosis 7
Otosclerosis OMIM:611572
Microphthalmia/Coloboma 7
Microphthalmia OMIM:614497
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Microphthalmia, Micrognathia, Hypertelorism ORPHA:93267
3C Syndrome
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect... ORPHA:7
Phace Syndrome
Aortic root aneurysm, Tetralogy of Fallot, Abnormal heart morphology, Abnormal cerebral artery mo... ORPHA:42775
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Tetralogy of Fallot, Muscular ventricular septal defect, Patent foramen ovale, Ventricular septal... OMIM:210710
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome
Abnormal pulmonary valve morphology, Pulmonic stenosis ORPHA:137634
Van Esch-O'Driscoll Syndrome
Pulmonary artery stenosis, Pulmonary valve atresia, Atrial septal defect, Ventricular septal defect OMIM:301030
Hypotonia-Cystinuria Syndrome
Long eyelashes, Hypocalcemia OMIM:606407
Ehlers-Danlos Syndrome, Classic-Like, 2
Carotid artery stenosis, Aortic root aneurysm, Prominent superficial veins, Mitral valve prolapse OMIM:618000
Biemond Syndrome Type 2
Hydrocephalus, Microphthalmia ORPHA:141333
Angiostrongyliasis
Hypereosinophilia ORPHA:74
Congenital Pulmonary Lymphangiectasia
Chylopericardium, Pulmonic stenosis ORPHA:2414
Baraitser-Winter Syndrome 2
Microphthalmia, Retrognathia, Hypertelorism OMIM:614583
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia OMIM:274270
Microphthalmia/Coloboma 3
Microphthalmia OMIM:610092
Tyshchenko Syndrome
Atrial septal defect, Pulmonic stenosis, Ventricular septal defect OMIM:615102
Otodental Syndrome
Carious teeth, Abnormal dental pulp morphology, Delayed eruption of teeth, Abnormal molar morphol... ORPHA:2791
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hypoplastic left heart, Mitral atresia, Muscular ventricular septal defect, Ischemic stroke, Vent... OMIM:619503
X-Linked Mandibulofacial Dysostosis
Pulmonic stenosis, Abnormal mitral valve morphology, Abnormality of the pulmonary artery ORPHA:1131
Prader-Willi Syndrome Due To Imprinting Mutation
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:177910
Fanconi Anemia, Complementation Group B
Coarctation of aorta, Patent ductus arteriosus, Ventricular septal defect OMIM:300514
Chediak-Higashi Syndrome
Silver-gray hair, Iris hypopigmentation, Hypopigmentation of the skin, Hemophagocytosis, Ocular a... OMIM:214500
Multiple Endocrine Neoplasia, Type I
Hypercalcemia, Cafe-au-lait spot OMIM:131100
Ataxia-Telangiectasia
Lymphopenia, Hypopigmentation of hair, Multiple cafe-au-lait spots, Premature graying of hair ORPHA:100
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Interrupted aortic arch, Hypoplastic tricuspid valve, Congenital defect of the pericardium, Tetra... ORPHA:2255
Bartter Syndrome, Type 1, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Hypomagnesemia, Hypokalemia, Hypercalcemia, H... OMIM:601678
Robinow Syndrome
Abnormal heart morphology, Ventricular septal defect, Coarctation of aorta, Pulmonary valve atres... ORPHA:97360
Pseudohypoparathyroidism Type 1B
Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia ORPHA:94089
Chime Syndrome
Tetralogy of Fallot, Pulmonary valve atresia, Transposition of the great arteries, Ventricular se... ORPHA:3474
Cat Eye Syndrome
Hypoplastic left heart, Total anomalous pulmonary venous return, Tetralogy of Fallot, Ventricular... OMIM:115470
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia OMIM:278780
Hoyeraal-Hreidarsson Syndrome
Bone marrow hypocellularity, Generalized hypopigmentation of hair, Premature graying of hair, Gen... ORPHA:3322
Otosclerosis 10
Otosclerosis OMIM:615589
Piebald Trait
Partial albinism, White forelock, Absent pigmentation of the ventral chest, Heterochromia iridis,... OMIM:172800
Diaphragmatic Hernia 4, With Cardiovascular Defects
Aortopulmonary collateral arteries, Pulmonary artery hypoplasia, Aortic root aneurysm, Ventricula... OMIM:620025
Aprosencephaly Syndrome
Aprosencephaly, Anencephaly OMIM:207770
Cardiac-Urogenital Syndrome
Interrupted aortic arch, Hypoplastic left heart, Coronary sinus enlargement, Tetralogy of Fallot,... OMIM:618280
Frontofacionasal Dysplasia
Microphthalmia, Cranium bifidum occultum, Hypoplasia of the frontal bone, Hypertelorism OMIM:229400
Autosomal Dominant Hypocalcemia
Alopecia, Irregular hyperpigmentation, Hyperphosphatemia, Hypomagnesemia, Abnormal fingernail mor... ORPHA:428
Cardiac-Valvular Ehlers-Danlos Syndrome
Aortic root aneurysm, Abnormal heart valve morphology, Mitral valve prolapse, Left ventricular hy... ORPHA:230851
20Q13.33 Microdeletion Syndrome
Abnormal cardiac ventricle morphology, Hypoplastic aortic arch, Dilation of Virchow-Robin spaces,... ORPHA:261311
Igg4-Related Pachymeningitis
Elevated circulating C-reactive protein concentration, Eosinophilia ORPHA:449427
Velocardiofacial Syndrome
Interrupted aortic arch, Right aortic arch with mirror image branching, Tetralogy of Fallot, Vent... OMIM:192430
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Atrioventricular canal defect, Coarctation of aorta, Dextrocardia OMIM:618929
Marden-Walker Syndrome
Microphthalmia, Micrognathia, Wide anterior fontanel, Hypertelorism OMIM:248700
Hereditary Pheochromocytoma-Paraganglioma
Hypercalcemia ORPHA:29072
Legius Syndrome
Supravalvar pulmonary stenosis OMIM:611431
Pseudotrisomy 13 Syndrome
Complete atrioventricular canal defect, Ventricular septal defect, Coarctation of aorta, Atrial s... OMIM:264480
Arterial Tortuosity Syndrome
Dilated cardiomyopathy, Aortic root aneurysm, Aortic dissection, Hypertrophic cardiomyopathy, Art... ORPHA:3342
Apparent Mineralocorticoid Excess
Hypokalemia, Decreased circulating renin level OMIM:218030
Genetic Recurrent Myoglobinuria
Hyperkalemia, Hyperphosphatemia, Hypocalcemia, Highly elevated creatine kinase ORPHA:99845
Neuroleptic Malignant Syndrome
Hyperphosphatemia, Hypomagnesemia, Leukocytosis, Hypocalcemia, Hyperuricemia, Elevated circulatin... ORPHA:94093
Cerebrooculofacioskeletal Syndrome 1
Carious teeth, Delayed eruption of teeth, Micrognathia, Deeply set eye, Microphthalmia OMIM:214150
Pseudohypoparathyroidism, Type Ic
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia OMIM:612462
Kallmann Syndrome-Heart Disease Syndrome
Pulmonary artery hypoplasia, Dilated cardiomyopathy, Anomalous origin of left coronary artery fro... ORPHA:2326
Autosomal Dominant Polycystic Kidney Disease
Dilatation of the cerebral artery, Abnormal systemic arterial morphology, Aortic root aneurysm, M... ORPHA:730
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia, Hypertelorism ORPHA:1135
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased proportion of CD8-positive T cells, Lymphopenia, Hypereosinophilia, Decreased proportio... ORPHA:508533
Meester-Loeys Syndrome
Pulmonary artery aneurysm, Aortic root aneurysm, Aortic dissection, Dilatation of the cerebral ar... OMIM:300989
Ring Chromosome 10 Syndrome
Hypocalcemia ORPHA:1438
Mosaic Trisomy 16
Abnormal heart morphology, Ventricular septal defect, Single coronary artery origin, Coarctation ... ORPHA:1708
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypercalcemia, Hypertriglyceridemia ORPHA:369837
Kagami-Ogata Syndrome
Atrial septal defect, Patent ductus arteriosus, Pulmonic stenosis, Ventricular septal defect OMIM:608149
Meckel Syndrome, Type 4
Encephalocele, Hydrocephalus, Microphthalmia, Meningocele, Anencephaly OMIM:611134
Otosclerosis 4
Otosclerosis OMIM:611571
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Aortic root aneurysm, Mitral valve prolapse ORPHA:449291
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Cranium bifidum occultum, Hypoplasia of the frontal bone, Hypoplasia of the maxilla, Microphthalm... ORPHA:306542
Idiopathic Uveal Effusion Syndrome
Microphthalmia ORPHA:209956
Adams-Oliver Syndrome 2
Microphthalmia, Micrognathia, Hydrocephalus, Hypertelorism OMIM:614219
Hypocalcemic Vitamin D-Resistant Rickets
Alopecia, Hypophosphatemia, Hypocalcemia ORPHA:93160
Ciliary Dyskinesia, Primary, 20
Aortic valve stenosis, Situs inversus totalis, Atrial situs inversus, Ventricular septal defect, ... OMIM:615067
Meckel Syndrome, Type 2
Meningocele, Anencephaly, Encephalocele, Microphthalmia OMIM:603194
Oculocutaneous Albinism Type 2
Iris hypopigmentation, Hypopigmentation of the skin, White hair, Abnormality of retinal pigmentat... ORPHA:79432
Alg3-Cdg
Cardiomyopathy, Coarctation of the descending aortic arch ORPHA:79321
Alveolar Echinococcosis
Cutaneous abscess, Eosinophilia, Abnormal spleen morphology, Anemia, Liver abscess ORPHA:284
Meckel Syndrome, Type 5
Microphthalmia, Occipital encephalocele, Anencephaly OMIM:611561
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome
Aortic dissection, Vascular dilatation, Pulmonic stenosis, Varicose veins OMIM:618343
Congenital Total Pulmonary Venous Return Anomaly
Hypoplastic left heart, Mixed total anomalous pulmonary venous connection, Atrial situs ambiguous... ORPHA:99125
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Hypertrophic cardiomyopathy, Pulmonic stenosis ORPHA:2701
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Peripheral pulmonary artery stenosis, Aortic root aneurysm, Hypertrophic cardiomyopathy, Patent f... OMIM:617506
You-Hoover-Fong Syndrome
Double aortic arch, Coarctation of aorta, Vascular ring OMIM:616954
Oculocutaneous Albinism Type 1
Iris hypopigmentation, Generalized hypopigmentation of hair, White eyebrow, White eyelashes, Blue... ORPHA:352731
Emanuel Syndrome
Aortic valve stenosis, Ventricular septal defect, Truncus arteriosus, Atrial septal defect, Paten... OMIM:609029
Kleefstra Syndrome Due To 9Q34 Microdeletion
Aortic valve stenosis, Tetralogy of Fallot, Conotruncal defect, Coarctation of aorta, Abnormal ca... ORPHA:96147
Frontorhiny
Cranium bifidum occultum, Hypoplasia of the maxilla, Encephalocele, Basal encephalocele, Micropht... ORPHA:391474
Acquired Hypertrichosis Lanuginosa
Generalized hirsutism, Abnormal eyebrow morphology, Hypopigmentation of hair, Fine hair ORPHA:2221
Sarcoidosis
Alopecia, Hypopigmentation of the skin, Hemolytic anemia, Leukopenia, Increased T cell count, Eos... ORPHA:797
Noonan Syndrome With Multiple Lentigines
Hypertrophic cardiomyopathy, Atrioventricular canal defect, Abnormal pulmonary valve morphology, ... ORPHA:500
Piebald Trait With Neurologic Defects
White forelock, Absent pigmentation of the ventral chest OMIM:172850
Familial Isolated Hypoparathyroidism
Hypocalcemia ORPHA:2238
Noonan Syndrome 2
Cardiomyopathy, Hypertrophic cardiomyopathy, Atrioventricular canal defect, Mitral stenosis, Mitr... OMIM:605275
Osteopetrosis, Autosomal Recessive 1
Pancytopenia, Splenomegaly, Hypocalcemia, Thrombocytopenia, Anemia OMIM:259700
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Microphthalmia OMIM:120433
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Micrognathia, Microphthalmia ORPHA:48431
Wiskott-Aldrich Syndrome
Decreased mean platelet volume, Decreased proportion of CD8-positive T cells, Lymphopenia, Decrea... OMIM:301000
Linear Skin Defects With Multiple Congenital Anomalies 2
Microphthalmia, Hypertelorism OMIM:300887
Congenital Tracheomalacia
Abnormal pulmonary artery morphology, Tetralogy of Fallot, Abnormal heart morphology, Right aorti... ORPHA:95430
Developmental Delay With Variable Neurologic And Brain Abnormalities
Micrognathia, Microphthalmia OMIM:619694
Idiopathic Hypereosinophilic Syndrome
Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Splenomegaly, Eosinophilia, Thrombocytopenia, N... ORPHA:3260
Facial Clefting, Oblique, 1
Microphthalmia OMIM:600251
Bacterial Toxic-Shock Syndrome
Hypoalbuminemia, Elevated circulating creatinine concentration, Hypocalcemia, Abscess, Elevated c... ORPHA:36234
Dyskeratosis Congenita, Autosomal Dominant 2
Bone marrow hypocellularity, Aplastic anemia, Premature graying of hair, Pancytopenia, Leukopenia... OMIM:613989
Congenital Toxoplasmosis
Hydrocephalus, Microphthalmia ORPHA:858
Joubert Syndrome 14
Encephalocele, Deeply set eye, Hydrocephalus, Hypertelorism, Microphthalmia, Meningocele OMIM:614424
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Hydrocephalus, Microphthalmia OMIM:613155
Cataract 9, Multiple Types
Microphthalmia OMIM:604219
Vipoma
Hypokalemia, Hypercalcemia, Normochromic anemia ORPHA:97282
Microphthalmia, Isolated 5
Microphthalmia OMIM:611040
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Microphthalmia, Encephalocele, Hypertelorism ORPHA:228390
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Congenital Varicella Syndrome
Microphthalmia ORPHA:291
Cerebrooculofacioskeletal Syndrome 2
Microphthalmia, Micrognathia, Deeply set eye OMIM:610756
Koolen-De Vries Syndrome
Aortic root aneurysm, Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect, Pat... OMIM:610443
Hypocalcemic Vitamin D-Dependent Rickets
Hypochromic anemia, Leukocytosis, Hypocalcemia, Splenomegaly, Hypophosphatemia, Hypocalcemic seiz... ORPHA:289157
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Retrognathia, Umbilical hernia, Micrognathia, Microphthalmia, Lens coloboma, Mandibular prognathia OMIM:618914
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Proptosis, Encephalocele, Exencephaly, Hypertelorism ORPHA:2211
Loeys-Dietz Syndrome 1
Descending thoracic aorta aneurysm, Pulmonary artery aneurysm, Aortic root aneurysm, Arterial tor... OMIM:609192
Microphthalmia, Syndromic 8
Mandibular prognathia, Microphthalmia OMIM:601349
Cardiofaciocutaneous Syndrome 4
Ventricular septal hypertrophy, Pulmonic stenosis, Abnormal aortic valve morphology OMIM:615280
Microphthalmia, Syndromic 13
Microphthalmia OMIM:300915
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:411515
Oculocutaneous Albinism Type 1B
Iris hypopigmentation, Hypopigmentation of the skin, Melanocytic nevus, Abnormality of retinal pi... ORPHA:79434
Celiac Disease, Susceptibility To, 1
Alopecia, Hypocalcemia, Macrocytic anemia, Iron deficiency anemia, Thrombocytosis OMIM:212750
Gracile Bone Dysplasia
Asplenia, Hypoplastic spleen, Hypocalcemia OMIM:602361
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia OMIM:610023
Hyperaldosteronism, Familial, Type I
Decreased circulating renin level OMIM:103900
Mosaic Variegated Aneuploidy Syndrome 2
Coarctation of aorta, Subvalvular aortic stenosis, Atrial septal defect, Ventricular septal defect OMIM:614114
Chédiak-Higashi Syndrome
Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Neutropenia, Hypoproteinemia, Hypopigmentatio... ORPHA:167
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia, Hypoplasia of the maxilla, Hypertelorism OMIM:167730
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Splenomegaly, Hypoproteinemia, Hypocalcemia, Hypertrichosis OMIM:235255
Temtamy Syndrome
Microphthalmia, Hypoplasia of teeth, Micrognathia, Hypertelorism OMIM:218340
Noonan Syndrome 3
Hypertrophic cardiomyopathy, Mitral valve prolapse, Ventricular septal defect, Patent foramen ova... OMIM:609942
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia OMIM:267760
Kabuki Syndrome 2
Atrioventricular canal defect, Coarctation of aorta, Atrial septal defect, Pulmonic stenosis OMIM:300867
Osteopetrosis, Autosomal Recessive 5
Extramedullary hematopoiesis, Pancytopenia, Hepatosplenomegaly, Hyperbilirubinemia, Hypocalcemia,... OMIM:259720
Obesity Due To Prohormone Convertase I Deficiency
Red hair, Hypopigmentation of the skin ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Red hair, Hypopigmentation of the skin ORPHA:71526
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Hypophosphatemia, Hypocalcemia OMIM:600081
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies
Ventricular hypertrophy, Aortic root aneurysm, Ventricular septal defect, Bicuspid aortic valve, ... OMIM:620654
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Optic nerve hypoplasia, Hydrocephalus, Microphthalmia OMIM:615181
Encephalocraniocutaneous Lipomatosis
Interrupted aortic arch, Aortic valve stenosis, Abnormal aortic morphology, Tricuspid valve prola... ORPHA:2396
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Pulmonary artery atresia, Double outlet right ventricle, Pulmonic stenosis, Ventricular septal de... OMIM:301056
Distal Triplication 15Q
Abnormal heart morphology, Hypoplastic aortic arch, Patent ductus arteriosus, Atrial septal defect ORPHA:314588
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:241410
Wrinkly Skin Syndrome
Muscular ventricular septal defect, Atrial septal dilatation OMIM:278250
Homozygous Familial Hypercholesterolemia
Premature coronary artery atherosclerosis, Aortic atherosclerotic lesion, Abnormal internal carot... ORPHA:391665
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Hypocalcemic seizures, Hypophosphatemia, Hypocalcemia OMIM:264700
Frontofacionasal Dysplasia
Microphthalmia, Encephalocele, Hypertelorism ORPHA:1791
Hypophosphatemic Rickets, Autosomal Recessive, 2
Pulmonic stenosis OMIM:613312
Squalene Synthase Deficiency
Hypocholesterolemia, Abnormality of hair pigmentation, Decreased LDL cholesterol concentration, E... OMIM:618156
Carpenter Syndrome 1
Tetralogy of Fallot, Ventricular septal defect, Transposition of the great arteries, Atrial septa... OMIM:201000
Solitary Median Maxillary Central Incisor
Anophthalmia, Hypotelorism, Microphthalmia, Cyclopia, Holoprosencephaly OMIM:147250
Loeys-Dietz Syndrome 5
Aortic root aneurysm, Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Asce... OMIM:615582
Fanconi Anemia, Complementation Group G
Microphthalmia OMIM:614082
Developmental Delay, Language Impairment, And Ocular Abnormalities
Pulmonic stenosis OMIM:620141
Somatostatinoma
Hypercalcemia, Hypochromic microcytic anemia ORPHA:97283
Kenny-Caffey Syndrome, Type 2
Anemia, Hyperphosphatemia, Hypocalcemia, Transient hypophosphatemia OMIM:127000
Fryns Syndrome
Tetralogy of Fallot, Abnormal aortic arch morphology, Abnormal aortic morphology, Abnormal cardia... ORPHA:2059
Classic Phenylketonuria
Hypopigmentation of hair, Hypopigmentation of the skin, Hyperphenylalaninemia ORPHA:79254
Glucagonoma
Hypercalcemia, Acanthocytosis, Normochromic anemia ORPHA:97280
Adams-Oliver Syndrome 5
Right atrial enlargement, Pulmonic stenosis, Right ventricular hypertrophy, Patent foramen ovale OMIM:616028
Chromosome 13Q33-Q34 Deletion Syndrome
Delayed eruption of teeth, Micrognathia, Encephalocele, Deeply set eye, Advanced eruption of teet... OMIM:619148
Distal Deletion 15Q
Hypoplastic left heart, Abnormal aortic arch morphology, Double outlet right ventricle with doubl... ORPHA:1596
Neonatal Marfan Syndrome
Abnormal cardiac ventricle morphology, Aortic root aneurysm, Mitral valve prolapse, Tricuspid val... ORPHA:284979
Rhizomelic Syndrome, Urbach Type
Pulmonic stenosis ORPHA:3098
Timothy Syndrome
Hypocalcemia OMIM:601005
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Dilated cardiomyopathy, Transposition of the great arteries, Atrial septal defect, Pulmonic steno... OMIM:253800
Emanuel Syndrome
Aortic valve stenosis, Ventricular septal defect, Truncus arteriosus, Atrial septal defect, Paten... ORPHA:96170
Cardiofacioneurodevelopmental Syndrome
Atrioventricular canal defect, Pulmonic stenosis, Ventricular septal defect OMIM:619123
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypertrichosis, Hepatosplenomegaly, Splenomegaly, Hypocalcemia, Hypoproteinemia ORPHA:1655
Congenital Disorder Of Glycosylation, Type It
Cardiomegaly, Coarctation of aorta, Dilated cardiomyopathy, Ventricular septal defect OMIM:614921
Hyperaldosteronism, Familial, Type Iii
Hypokalemia, Decreased circulating renin level OMIM:613677
Lymphatic Filariasis
Hypereosinophilia, Hyperpigmentation of the skin ORPHA:2035
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Hyperammonemia, Hypocalcemia, Elevated circulating c... ORPHA:26793
Braddock-Carey Syndrome 2
Retrognathia, Microphthalmia OMIM:619981
Monosomy 18P
Carious teeth, Holoprosencephaly, Micrognathia, Microphthalmia ORPHA:1598
Chromosome 17Q12 Duplication Syndrome
Microphthalmia, Micrognathia, Deeply set eye OMIM:614526
Hyperparathyroidism-Jaw Tumor Syndrome
Hypophosphatemia, Hypercalcemia ORPHA:99880
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Micrognathia, Microphthalmia ORPHA:2547
Noonan Syndrome 5
Hypertrophic cardiomyopathy, Atrial septal defect, Pulmonic stenosis OMIM:611553
Osteopathia Striata-Cranial Sclerosis Syndrome
Aortic valve stenosis, Coarctation of aorta ORPHA:2780
Frontonasal Dysplasia 3
Microphthalmia, Hypertelorism OMIM:613456
17Q12 Microduplication Syndrome
Microphthalmia, Deeply set eye ORPHA:261272
Adams-Oliver Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Ventricular septal defect, Pu... OMIM:100300
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hypopigmentation of hair, Hypopigmentation of the skin, Cafe-au-lait spot, Splenomegaly OMIM:618541
Parathyroid Carcinoma
Hypophosphatemia, Hypercalcemia ORPHA:143
Toriello-Carey Syndrome
Cardiomyopathy, Tetralogy of Fallot, Coarctation of aorta, Abnormal cardiac septum morphology, Pa... ORPHA:3338
Meckel Syndrome 14
Microretrognathia, Occipital encephalocele, Retrognathia, Micrognathia, Microphthalmia, Holoprose... OMIM:619879
Mycophenolate Mofetil Embryopathy
Coarctation of aorta, Ventricular septal defect ORPHA:268249
Joubert Syndrome 37
Microphthalmia, Hypertelorism, Deeply set eye OMIM:619185
Acquired Von Willebrand Syndrome
Aortic valve stenosis, Intracranial hemorrhage, Gastrointestinal angiodysplasia, Pulmonic stenosis ORPHA:99147
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Aortic valve stenosis, Hypoplastic left heart, Mitral atresia, Ventricular septal defect, Bicuspi... OMIM:618164
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Hydrocephalus, Microphthalmia OMIM:613153
Pearson Syndrome
Bone marrow hypocellularity, Pigmentary retinopathy, Hypomagnesemia, Pancytopenia, Hypocalcemia, ... ORPHA:699
Lowry-Maclean Syndrome
Atrioventricular canal defect, Coarctation of aorta ORPHA:2409
Diarrhea 10, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hyponatremia, Hypertriglyceridemia OMIM:618183
Thrombocytopenia-Absent Radius Syndrome
Hepatosplenomegaly, Leukocytosis, Eosinophilia, Thrombocytopenia, Anemia OMIM:274000
Opitz Gbbb Syndrome
Aortic root aneurysm, Abnormal heart morphology, Patent foramen ovale, Ventricular septal defect,... ORPHA:2745
Trisomy 13
Aplasia/Hypoplasia of the iris, Anophthalmia, Hypotelorism, Deeply set eye, Microphthalmia ORPHA:3378
Spondylo-Ocular Syndrome
Microphthalmia, Aplasia/Hypoplasia of the lens, Hypertelorism ORPHA:85194
Oculodentodigital Dysplasia, Autosomal Recessive
Macrodontia of permanent maxillary central incisor, Hypoplasia of the maxilla, Dental malocclusio... OMIM:257850
Kleefstra Syndrome
Tetralogy of Fallot, Ventricular septal defect, Pulmonary artery stenosis, Coarctation of aorta, ... ORPHA:261494
Congenital Muscular Dystrophy With Cerebellar Involvement
Optic nerve hypoplasia, Occipital encephalocele, Hydrocephalus, Microphthalmia ORPHA:370959
Ermine Phenotype
Iris hypopigmentation, Irregular hyperpigmentation, Hypopigmented skin patches, Ocular albinism, ... ORPHA:999
Holoprosencephaly 9
Hypoplasia of the premaxilla, Alobar holoprosencephaly, Hypoplasia of the maxilla, Dental maloccl... OMIM:610829
Tropical Endomyocardial Fibrosis
Restrictive cardiomyopathy, Endocardial fibrosis, Coronary artery stenosis, Right ventricular car... ORPHA:75565
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Aortic valve stenosis, Pulmonic stenosis ORPHA:75496
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Microphthalmia OMIM:251270
Nance-Horan Syndrome
Supernumerary tooth, Mandibular prognathia, Microphthalmia ORPHA:627
Trichothiodystrophy 3, Photosensitive
Carious teeth, Natal tooth, Hypotelorism, Microphthalmia OMIM:616395
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Coarctation of aorta, Patent ductus arteriosus, Mitral stenosis OMIM:617260
Fanconi Anemia, Complementation Group S
Microphthalmia, Dental malocclusion, Hypertelorism OMIM:617883
Marfanoid-Progeroid-Lipodystrophy Syndrome
Aortic root aneurysm, Mitral valve prolapse OMIM:616914
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Microphthalmia ORPHA:1473
Pagod Syndrome
Hypoplastic left heart, Pulmonary artery hypoplasia, Situs inversus totalis, Abnormal aortic morp... ORPHA:991
Isolated Exencephaly
Hypoplasia of the frontal bone, Holoprosencephaly, Proptosis ORPHA:563612
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Aortic root aneurysm, Mitral valve prolapse, Patent foramen ovale, Cardiomegaly, Bicuspid aortic ... OMIM:245600
Histiocytosis-Lymphadenopathy Plus Syndrome
Mitral valve prolapse, Ventricular septal defect, Cardiomegaly, Left superior vena cava draining ... OMIM:602782
Weill-Marchesani Syndrome 1
Aortic valve stenosis, Patent ductus arteriosus, Pulmonic stenosis, Ventricular septal defect OMIM:277600
Neurooculocardiogenitourinary Syndrome
Microphthalmia, Hypertelorism OMIM:618652
Congenital Tracheal Stenosis
Hypoplastic left heart, Anomalous origin of left pulmonary artery from ascending aorta, Ventricul... ORPHA:141127
Oculocutaneous Albinism Type 1A
Iris hypopigmentation, Hypopigmentation of the skin, Ocular albinism, Freckling, Albinism, Hypopi... ORPHA:79431
Igg4-Related Kidney Disease
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... ORPHA:449395
Costello Syndrome
Hypertrophic cardiomyopathy, Pulmonic stenosis, Mitral valve prolapse, Ventricular septal defect ORPHA:3071
Noonan Syndrome 6
Hypertrophic cardiomyopathy, Pulmonic stenosis OMIM:613224
Coccidioidomycosis
Abnormality of the spleen, Eosinophilia, Granuloma, Abscess ORPHA:228123
Waardenburg Syndrome
Hypopigmented skin patches, Premature graying of hair, Abnormal eyebrow morphology, White foreloc... ORPHA:3440
Moebius Syndrome
Microphthalmia, Micrognathia, Hypertelorism OMIM:157900
Baraitser-Winter Syndrome 1
Microphthalmia, Retrognathia, Hypertelorism OMIM:243310
Williams-Beuren Syndrome
Peripheral pulmonary artery stenosis, Coronary artery stenosis, Myxomatous mitral valve degenerat... OMIM:194050
Acrodysostosis 2 With Or Without Hormone Resistance
Fair hair, Red hair, Blue irides OMIM:614613
Giant Cell Arteritis
Vasculitis, Aortic dissection, Double outlet right ventricle with subpulmonary ventricular septal... ORPHA:397
Noonan Syndrome 4
Hypertrophic cardiomyopathy, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect OMIM:610733
Ectopic Aldosterone-Producing Tumor
Hypokalemia, Decreased circulating renin level ORPHA:231632
Degcags Syndrome
Patent foramen ovale, Ventricular septal defect, Persistent left superior vena cava, Dysplastic p... OMIM:619488
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome
Hydrocephalus, Microphthalmia OMIM:601794
Ppoma
Hypercalcemia ORPHA:97278
Developmental And Epileptic Encephalopathy 1
Microphthalmia OMIM:308350
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Perimembranous ventricular septal defect ORPHA:83617
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Umbilical hernia, Mandibular prognathia, Bilateral microphthalmos, Hypertelorism ORPHA:369891
Albinism, Oculocutaneous, Type Ia
White hair, Ocular albinism, Absent skin pigmentation, Blue irides, Albinism, Hypopigmentation of... OMIM:203100
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Arterial dissection, Aortic dissection, Abnormal venous morphology, Mitral valve prolapse, Aortic... ORPHA:1900
Noonan Syndrome 7
Hypertrophic cardiomyopathy, Atrial septal defect, Pulmonic stenosis OMIM:613706
Classical-Like Ehlers-Danlos Syndrome Type 2
Aortic root aneurysm, Prominent veins on trunk, Mitral valve prolapse, Carotid artery stenosis, V... ORPHA:536532
Coffin-Siris Syndrome 4
Mitral atresia, Ventricular septal defect, Atrial septal defect, Pulmonary artery atresia, Patent... OMIM:614609
Cholera
Hypokalemia, Abnormal blood ion concentration, Hyponatremia, Hypocalcemia ORPHA:173
Aneurysm-Osteoarthritis Syndrome
Arterial dissection, Aortic dissection, Arterial tortuosity, Dilatation of the cerebral artery, A... ORPHA:284984
Holoprosencephaly-Postaxial Polydactyly Syndrome
Hypoplasia of the premaxilla, Umbilical hernia, Micrognathia, Encephalocele, Hypotelorism, Hydroc... ORPHA:2166
Mend Syndrome
Micrognathia, Hydrocephalus, Microphthalmia, Hypertelorism, Wide anterior fontanel ORPHA:401973
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Retrognathia, Encephalocele, Deeply set eye, Hydrocephalus, Microphthalmia, Optic nerve hypoplasia OMIM:614643
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Hypopigmentation of hair ORPHA:70472
Cenani-Lenz Syndactyly Syndrome
Pulmonic stenosis OMIM:212780
Scleromyxedema
Stroke, Abnormal pulmonary artery morphology, Transient ischemic attack, Abnormal coronary artery... ORPHA:167635
Intellectual Developmental Disorder, Autosomal Dominant 45
Pulmonic stenosis OMIM:617600
Chromosome 1Q41-Q42 Deletion Syndrome
Hypotelorism, Deeply set eye, Microphthalmia, Holoprosencephaly, Hypertelorism OMIM:612530
Osteogenesis Imperfecta, Type Iv
Dentinogenesis imperfecta, Otosclerosis OMIM:166220
Zollinger-Ellison Syndrome
Hypercalcemia ORPHA:913
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Microphthalmia, Hypertelorism OMIM:614105
Microphthalmia, Syndromic 16
Anophthalmia, Microphthalmia OMIM:611038
Congenital Disorder Of Glycosylation, Type Iq
Microphthalmia, Hypertelorism OMIM:612379
Marfan Syndrome
Arterial dissection, Aortic root aneurysm, Aortic dissection, Pulmonary artery dilatation, Mitral... ORPHA:558
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Red hair, Hyperbilirubinemia OMIM:609734
De Barsy Syndrome
Prominent veins on trunk, Ventricular septal defect, Persistent left superior vena cava, Hypoplas... ORPHA:2962
Grfoma
Hypercalcemia ORPHA:97261
Loeys-Dietz Syndrome 3
Ventricular hypertrophy, Aortic dissection, Arterial tortuosity, Tortuous cerebral arteries, Dila... OMIM:613795
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Long eyelashes, Hypocalcemia OMIM:618476
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Ethmoidal encephalocele, Bilateral microphthalmos, Optic nerve hypoplasia OMIM:607597
Syndromic Diarrhea
Trichorrhexis nodosa, Lymphopenia, Thrombocytosis, Splenomegaly, Hypoplasia of the thymus, Uncomb... ORPHA:84064
Igg4-Related Ophthalmic Disease
Elevated circulating C-reactive protein concentration, Eosinophilia ORPHA:449563
Oncogenic Osteomalacia
Hypophosphatemia, Hypocalcemia ORPHA:352540
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Hypoplasia of the maxilla, Micrognathia, Microphthalmia OMIM:301108
Subaortic Stenosis-Short Stature Syndrome
Micrognathia, Microphthalmia ORPHA:3191
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Aortic root aneurysm, Atrial septal defect OMIM:618891
Hermansky-Pudlak Syndrome 1
Hypopigmentation of the skin, Ocular albinism, Melanocytic nevus, Freckles in sun-exposed areas, ... OMIM:203300
Bresek Syndrome
Optic nerve hypoplasia, Hydrocephalus, Microphthalmia ORPHA:85284
Multiple Endocrine Neoplasia Type 2
Hypercalcemia ORPHA:653
Seckel Syndrome 2
Micrognathia, Microphthalmia OMIM:606744
Pitt-Hopkins-Like Syndrome 2
Pulmonic stenosis OMIM:614325
Fanconi Anemia, Complementation Group J
Microphthalmia OMIM:609054
Cartilage-Hair Hypoplasia
Sparse eyebrow, Abnormality of retinal pigmentation, Hypocalcemia, Neutropenia, Anemia, Sparse hair ORPHA:175
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Micrognathia, Hydrocephalus, Microphthalmia ORPHA:163966
Pelvis-Shoulder Dysplasia
Spina bifida occulta, Microphthalmia OMIM:169550
Craniofacioskeletal Syndrome
Interrupted aortic arch, Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:300712
Multiple Endocrine Neoplasia Type 4
Hypercalcemia ORPHA:276152
Weill-Marchesani Syndrome 2
Aortic valve stenosis, Ventricular septal defect, Ascending aortic dissection, Patent ductus arte... OMIM:608328
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Microphthalmia, Hypertelorism, Retrognathia, Deeply set eye OMIM:620098
Mosaic Trisomy 1
Pulmonary artery atresia, Coarctation of aorta, Ventricular septal defect ORPHA:1692
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Splenomegaly, Hypocalcemia, Hypokalemia, Hyponatremia, Calcinosis OMIM:617913
Oculoectodermal Syndrome
Hypertrophic cardiomyopathy, Transient ischemic attack, Coarctation of aorta, Atrial septal defec... OMIM:600268
Intellectual Developmental Disorder, Autosomal Dominant 43
Pulmonic stenosis OMIM:616977
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect, Patent ductus arteriosus,... OMIM:610759
Fg Syndrome Type 1
Coarctation of aorta, Atrial septal defect, Mitral valve prolapse ORPHA:93932
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia, Hypoplasia of the maxilla, Bilateral microphthalmos, Hypertelorism ORPHA:2399
Congenital Rubella Syndrome
Aplasia/Hypoplasia of the iris, Microphthalmia ORPHA:290
Vacterl With Hydrocephalus
Retrognathia, Micrognathia, Anophthalmia, Hydrocephalus, Spina bifida, Microphthalmia, Aqueductal... ORPHA:3412
Sanjad-Sakati Syndrome
Hyperphosphatemia, Hypocalcemia ORPHA:2323
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia ORPHA:2788
Carney Complex, Type 1
Multiple lentigines, Hirsutism, Freckling, Red hair, Profuse pigmented skin lesions OMIM:160980
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Mandibular prognathia, Microphthalmia OMIM:152950
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Atrial septal defect, Double outlet right ventricle, Patent ductus arteriosus, Pulmonic stenosis OMIM:618223
Joubert Syndrome 22
Microphthalmia OMIM:615665
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Iris hypopigmentation, Hypopigmented skin patches, Hyperpigmentation of the skin, Multiple cafe-a... ORPHA:3214
Primary Unilateral Adrenal Hyperplasia
Hypokalemia, Decreased circulating renin level ORPHA:231580
Cutis Laxa, Autosomal Recessive, Type Ib
Pulmonary artery aneurysm, Aortic root aneurysm, Pulmonary artery dilatation, Vascular tortuosity... OMIM:614437
Juvenile Nephropathic Cystinosis
Hypouricemia, Elevated circulating creatinine concentration, Hypocalcemic tetany, Hypocalcemia, H... ORPHA:411634
Congenital Disorder Of Glycosylation, Type Ig
Hypocalcemia OMIM:607143
Igg4-Related Submandibular Gland Disease
Eosinophilia ORPHA:449432
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Natal tooth, Micrognathia, Microphthalmia, Hypertelorism, Wide anterior fontanel OMIM:617925
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Hypotelorism, Microphthalmia OMIM:619053
Microphthalmia, Isolated 8
True anophthalmia, Optic nerve hypoplasia, Anophthalmia, Microphthalmia OMIM:615113
Cousin Syndrome
Hydranencephaly, Micrognathia, Deeply set eye, Hydrocephalus, Microphthalmia, Hypertelorism OMIM:260660
Holoprosencephaly 7
Hypoplasia of the premaxilla, Alobar holoprosencephaly, Semilobar holoprosencephaly, Bilateral mi... OMIM:610828
2Q37 Microdeletion Syndrome
Abnormal aortic morphology ORPHA:1001
Multiple Endocrine Neoplasia Type 1
Hypercalcemia, Large cafe-au-lait macules with irregular margins ORPHA:652
Premature Aging Syndrome, Penttinen Type
Hypoplasia of the maxilla, Proptosis, Delayed eruption of teeth, Retrognathia, Micrognathia, Hypo... OMIM:601812
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Alopecia, Hirsutism, Hypokalemia, Decreased circulating renin level, Hyperpigmentation of the skin ORPHA:90795
Holoprosencephaly
Spinal dysraphism, Hypoplasia of the zygomatic bone, Branchial anomaly, Encephalocele, Hypotelori... ORPHA:2162
Mitochondrial Trifunctional Protein Deficiency
Pigmentary retinopathy, Hypocalcemia ORPHA:746
Muenke Syndrome
Hypopigmentation of hair, Hypermelanotic macule, Hypopigmented skin patches ORPHA:53271
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Abnormally large globe, Hydrocephalus, Microphthalmia OMIM:615249
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Microphthalmia OMIM:613730
Mosaic Variegated Aneuploidy Syndrome
Coarctation of aorta, Subvalvular aortic stenosis, Abnormal aortic morphology, Atrial septal defect ORPHA:1052
Intellectual Developmental Disorder, X-Linked 112
Abnormal heart morphology, Bicuspid aortic valve, Right aortic arch OMIM:301111
Apparent Mineralocorticoid Excess
Hypokalemia, Decreased circulating renin level ORPHA:320
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Micrognathia, Shallow orbits, Microphthalmia OMIM:617306
Mucopolysaccharidosis Type 2
Cardiomyopathy, Abnormal heart morphology, Abnormal heart valve morphology, Abnormal pulmonary va... ORPHA:580
Osteogenesis Imperfecta, Type I
Dentinogenesis imperfecta, Otosclerosis OMIM:166200
Autosomal Recessive Robinow Syndrome
Tetralogy of Fallot, Abnormal pulmonary valve morphology, Abnormal aortic morphology, Abnormal tr... ORPHA:1507
Mosaic Trisomy 9
Micrognathia, Hypotelorism, Spina bifida, Microphthalmia, Hypertelorism ORPHA:99776
Rere-Related Neurodevelopmental Syndrome
Micrognathia, Microphthalmia ORPHA:494344
1Q21.1 Microdeletion Syndrome
Interrupted aortic arch, Patent ductus arteriosus, Abnormal cardiac septum morphology ORPHA:250989
Exudative Vitreoretinopathy 2, X-Linked
Microphthalmia, Deeply set eye OMIM:305390
Marfan Syndrome
Mitral annular calcification, Pulmonary artery dilatation, Aortic root aneurysm, Aortic dissectio... OMIM:154700
Microphthalmia-Brain Atrophy Syndrome
Bilateral microphthalmos ORPHA:77299
Pseudohypoparathyroidism Type 1C
Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Calcinosis, Hypocalcemic seizures ORPHA:79444
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Hydrocephalus, Microphthalmia OMIM:300863
Trisomy 18
Microretrognathia, Spina bifida, Hypertelorism, Microphthalmia, Cyclopia, Holoprosencephaly, Anen... ORPHA:3380
Kaufman Oculocerebrofacial Syndrome
Coarctation of aorta, Atrial septal defect, Ventricular septal defect OMIM:244450
Triokinase And Fmn Cyclase Deficiency Syndrome
Microphthalmia OMIM:618805
Stromme Syndrome
Micrognathia, Deeply set eye, Hydrocephalus, Microphthalmia, Hypertelorism, Optic nerve hypoplasia OMIM:243605
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Aortic root aneurysm, Mitral valve prolapse, Stroke, Thoracic aortic aneurysm, Ascending tubular ... ORPHA:536467
Takenouchi-Kosaki Syndrome
Pulmonic stenosis, Patent ductus arteriosus, Abnormal cardiac septum morphology OMIM:616737
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Hypokalemia, Decreased circulating renin level ORPHA:231625
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Holoprosencephaly, Hydrocephalus, Anophthalmia, Microphthalmia ORPHA:77298
Joubert Syndrome 2
Microphthalmia, Hydrocephalus, Encephalocele, Hypertelorism OMIM:608091
Gabriele-De Vries Syndrome
Aortopulmonary collateral arteries, Patent foramen ovale OMIM:617557
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Microphthalmia, Microretrognathia, Hypertelorism OMIM:618571
Vici Syndrome
Hypopigmentation of the skin, Ocular albinism, Lymphopenia, Leukopenia, Decreased proportion of C... OMIM:242840
Waardenburg Syndrome, Type 4C
Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Whit... OMIM:613266
Treacher-Collins Syndrome
Hypoplasia of the maxilla, Branchial fistula, Hypoplasia of the zygomatic bone, Retrognathia, Abn... ORPHA:861
Pelvis-Shoulder Dysplasia
Hydranencephaly, Bilateral microphthalmos, Micrognathia, Hydrocephalus, Spina bifida ORPHA:2839
Oculogastrointestinal Neurodevelopmental Syndrome
Unilateral microphthalmos, Bilateral microphthalmos OMIM:619318
Multiple Benign Circumferential Skin Creases On Limbs
Microphthalmia, Micrognathia, Umbilical hernia ORPHA:2505
Infection-Related Hemolytic Uremic Syndrome
Brain abscess, Leukocytosis, Hypocalcemia, Hyponatremia, Thrombocytopenia, Hyperkalemia, Hemolyti... ORPHA:544482
Atelis Syndrome 2
Supravalvar pulmonary stenosis, Patent ductus arteriosus, Pulmonic stenosis OMIM:620185
Frontonasal Dysplasia 2
Microphthalmia, Encephalocele, Hypertelorism OMIM:613451
Curry-Jones Syndrome
Microphthalmia, Hypertelorism ORPHA:1553
Anterior Segment Dysgenesis 5
Hypoplasia of the fovea, Rieger anomaly, Microphthalmia, Hypoplasia of the iris OMIM:604229
Warburg Micro Syndrome 4
Microphthalmia, Deeply set eye OMIM:615663
Cerebrooculofacioskeletal Syndrome 4
Micrognathia, Bilateral microphthalmos, Deeply set eye OMIM:610758
Alport Syndrome
Aortic aneurysm, Renal glomerular foam cells, Abnormal aortic morphology ORPHA:63
Mucopolysaccharidosis Type 2, Severe Form
Cardiomyopathy, Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Abnormal ao... ORPHA:217085
Viss Syndrome
Iliac artery aneurysm, Aortic root aneurysm, Tortuous cerebral arteries, Mitral valve prolapse, V... OMIM:619472
Osteopetrosis With Renal Tubular Acidosis
Bone marrow hypocellularity, Pancytopenia, Leukopenia, Hypocalcemia, Elevated circulating creatin... ORPHA:2785
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Aplasia/Hypoplasia of the nails, Hyperbilirubinemia, Hypocalcemia, Thrombocytopenia, Anemia ORPHA:163979
Basel-Vanagaite-Smirin-Yosef Syndrome
Microphthalmia, Retrognathia, Hypertelorism OMIM:616449
Schimmelpenning-Feuerstein-Mims Syndrome
Coarctation of aorta OMIM:163200
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Secundum atrial septal defect, Pulmonic stenosis OMIM:615802
Developmental Delay With Or Without Dysmorphic Facies And Autism
Coarctation of aorta, Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect OMIM:618454
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Aortic root aneurysm OMIM:615349
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Microretrognathia, Natal tooth, Encephalocele, Microphthalmia, Hypertelorism OMIM:616300
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Peripheral pulmonary artery stenosis, Valvular pulmonary stenosis, Patent foramen ovale, Bicuspid... OMIM:300707
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Micrognathia, Microphthalmia ORPHA:404440
Microphthalmia, Syndromic 11
Microphthalmia OMIM:614402
Mucopolysaccharidosis Type 2, Attenuated Form
Cardiomyopathy, Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Abnormal ao... ORPHA:217093
Feingold Syndrome 1
Interrupted aortic arch, Ventricular septal defect, Tricuspid stenosis, Patent ductus arteriosus,... OMIM:164280
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:98795
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hypocalcemic tetany, Hypocalcemia, Hypomagnesemia ORPHA:73224
Meckel Syndrome
Micrognathia, Encephalocele, Anophthalmia, Aplasia/Hypoplasia of the iris, Hydrocephalus, Hyperte... ORPHA:564
Keutel Syndrome
Pulmonary artery hypoplasia, Peripheral pulmonary artery stenosis, Pulmonic stenosis, Ventricular... OMIM:245150
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Secundum atrial septal defect, Prominent superficial veins, Varicose veins, Cor triatriatum, Pate... OMIM:612541
Autosomal Recessive Malignant Osteopetrosis
Splenomegaly, Hypocalcemia, Anemia, Hypophosphatemia, Abnormality of hair texture ORPHA:667
Microphthalmia/Coloboma 9
Microphthalmia, Hypertelorism OMIM:615145
Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia, Hypertelorism ORPHA:2717
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Hypokalemia, Decreased circulating renin level OMIM:615474
Adams-Oliver Syndrome
Hydrocephalus, Encephalocele, Microphthalmia ORPHA:974
17Q24.2 Microdeletion Syndrome
Micrognathia, Otosclerosis, Hypertelorism, Deeply set eye ORPHA:529962
Garg-Mishra Progeroid Syndrome
Micrognathia, Microphthalmia OMIM:620601
Microphthalmia With Limb Anomalies
Retrognathia, Anophthalmia, Microphthalmia OMIM:206920
Zimmermann-Laband Syndrome 1
Aortic arch aneurysm, Aortic root aneurysm, Patent ductus arteriosus, Cardiomyopathy OMIM:135500
Hennekam Syndrome
Sparse axillary hair, Lymphopenia, Hypocalcemia, Splenomegaly ORPHA:2136
Watson Syndrome
Pulmonic stenosis OMIM:193520
Wiskott-Aldrich Syndrome
Abnormal eosinophil morphology, Acute leukemia, Microcytic anemia, Lymphopenia, Chronic leukemia,... ORPHA:906
Hartsfield Syndrome
Hypoplasia of the frontal bone, Alobar holoprosencephaly, Semilobar holoprosencephaly, Hypotelori... OMIM:615465
Hermansky-Pudlak Syndrome
Iris hypopigmentation, Hypopigmentation of the skin, Ocular albinism, Partial albinism, Long eyel... ORPHA:79430
Skin Creases, Congenital Symmetric Circumferential, 1
Microphthalmia, Micrognathia, Hypertelorism OMIM:156610
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Microphthalmia ORPHA:363741
Myoclonic-Astatic Epilepsy
Microphthalmia ORPHA:1942
Hypohidrotic Ectodermal Dysplasia
Generalized hypopigmentation of hair, Irregular hyperpigmentation, Breast aplasia, Trichorrhexis ... ORPHA:238468
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Optic nerve hypoplasia, Microphthalmia OMIM:614833
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Peripheral pulmonary artery stenosis, Aortic root aneurysm, Right ventricular hypertrophy, Patent... ORPHA:280633
Nance-Horan Syndrome
Supernumerary maxillary incisor, Mulberry molar, Screwdriver-shaped incisors, Microphthalmia OMIM:302350
Basal Cell Nevus Syndrome 1
Hypertelorism, Hydrocephalus, Spina bifida, Microphthalmia, Mandibular prognathia OMIM:109400
Sotos Syndrome
Hypopigmentation of the skin, Small nail, Sparse anterior scalp hair, Hyperpigmentation of the sk... ORPHA:821
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Occipital encephalocele, Micrognathia, Hydrocephalus, Microphthalmia, Buphthalmos, Meningoencepha... OMIM:236670
Tetraamelia-Multiple Malformations Syndrome
Micrognathia, Septo-optic dysplasia, Hydrocephalus, Microphthalmia ORPHA:3301
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Interrupted aortic arch, Hypertrophic cardiomyopathy, Patent foramen ovale, Coarctation of aorta,... ORPHA:17
Noonan Syndrome 14
Hypertrophic cardiomyopathy, Pulmonic stenosis, Mitral valve prolapse OMIM:619745
Trichothiodystrophy 4, Nonphotosensitive
Hypoplasia of teeth, Retrognathia, Microphthalmia OMIM:234050
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Eosinophilia, Cutaneous abscess, Recurrent cutaneous abscess formation OMIM:147060
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Hydrocephalus, Buphthalmos, Encephalocele, Microphthalmia OMIM:613150
Cushing Disease
Lymphopenia, Leukocytosis, Hirsutism, Hyperpigmentation of the skin, Decreased eosinophil count, ... ORPHA:96253
Alagille Syndrome 1
Peripheral pulmonary artery stenosis, Tetralogy of Fallot, Renal artery stenosis, Ventricular sep... OMIM:118450
Pseudohypoparathyroidism Type 1A
Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Calcinosis, Hypocalcemic seizures ORPHA:79443
Exercise-Induced Malignant Hyperthermia
Hyperphosphatemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Thrombocytop... ORPHA:466650
Microphthalmia, Syndromic 2
Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Double outlet right vent... OMIM:300166
Liver Disease, Severe Congenital
Dry hair, Increased circulating ferritin concentration, Leukopenia, Hyperbilirubinemia, Hypocalce... OMIM:619991
Cranioectodermal Dysplasia 1
Short nail, Fine hair, Hypocalcemia, Slow-growing hair, Thin nail, Sparse hair OMIM:218330
Momo Syndrome
Dental malocclusion, Delayed eruption of teeth, Bilateral microphthalmos, Taurodontia, Hypertelorism ORPHA:2563
Cockayne Syndrome Type 3
Vascular calcification, Aortic root aneurysm, Subdural hemorrhage, Premature coronary artery athe... ORPHA:90324
Warburg Micro Syndrome 3
Micrognathia, Microphthalmia OMIM:614222
Angelman Syndrome Due To A Point Mutation
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:411511
Trichohepatoenteric Syndrome 1
Tetralogy of Fallot, Pulmonic stenosis, Ventricular septal defect OMIM:222470
Hallermann-Streiff Syndrome
Dental malocclusion, Natal tooth, Micrognathia, Spina bifida, Microphthalmia, Supernumerary tooth OMIM:234100
Galloway-Mowat Syndrome 3
Microphthalmia, Micrognathia, Hypertelorism, Deeply set eye OMIM:617729
Pseudohypoparathyroidism, Type Ia
Hypocalcemic tetany, Hyperphosphatemia OMIM:103580
Fetal Alcohol Syndrome
Micrognathia, Microphthalmia ORPHA:1915
Loeys-Dietz Syndrome
Arterial dissection, Aortic dissection, Arterial tortuosity, Aortic aneurysm, Vascular dilatation... ORPHA:60030
Autosomal Dominant Keratitis
Bilateral microphthalmos, Aniridia, Hypoplasia of the fovea, Macular hypoplasia, Hypoplastic iris... ORPHA:2334
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Aortic valve stenosis, Abnormal heart morphology, Ventricular septal defect, Bicuspid aortic valv... ORPHA:353281
Orofaciodigital Syndrome Vi
Hypoplastic left heart, Coarctation of aorta OMIM:277170
Esophageal Atresia
Tetralogy of Fallot, Coarctation of aorta, Ventricular septal defect ORPHA:1199
Sacral Defect With Anterior Meningocele
Myelomeningocele, Myeloschisis, Hydrocephalus, Meningocele, Dermal sinus tract OMIM:600145
Deafness, X-Linked 7
Unilateral microphthalmos OMIM:301018
8Q21.11 Microdeletion Syndrome
Microphthalmia, Micrognathia, Hypertelorism ORPHA:284160
Fanconi Anemia
Arteriovenous malformation, Tetralogy of Fallot, Hypertrophic cardiomyopathy, Abnormal aortic mor... ORPHA:84
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Enamel hypoplasia, Persistence of primary teeth, Dental malocclusion, Microphthalmia OMIM:618727
Walker-Warburg Syndrome
Hydrocephalus, Anophthalmia, Microphthalmia ORPHA:899
Noonan Syndrome
Hypertrophic cardiomyopathy, Abnormal pulmonary valve morphology, Pulmonary artery stenosis, Coar... ORPHA:648
Oculofaciocardiodental Syndrome
Delayed eruption of teeth, Microphthalmia ORPHA:2712
22Q11.2 Deletion Syndrome
Abnormal aortic arch morphology, Tetralogy of Fallot, Retinal arteriolar tortuosity, Abnormal pul... ORPHA:567
Myhre Syndrome
Aortic valve stenosis, Ventricular septal defect, Coarctation of aorta, Atrial septal defect, Per... OMIM:139210
Curry-Jones Syndrome
Occipital meningocele, Lipomyelomeningocele, Microphthalmia OMIM:601707
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Aortic root aneurysm, Abnormal heart morphology, Patent foramen ovale, Ventricular septal defect,... ORPHA:444077
Ethylene Glycol Poisoning
Hyperkalemia, Hypocalcemia ORPHA:31826
Hypomagnesemia 3, Renal
Increased circulating beta-C-terminal telopeptide concentration, Hyperphosphatemia, Hypomagnesemi... OMIM:248250
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Atrioventricular canal defect, Coarctation of aorta, Patent ductus arteriosus OMIM:617088
Chromosome 8Q21.11 Deletion Syndrome
Microphthalmia, Micrognathia, Hypertelorism OMIM:614230
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Atrioventricular canal defect, Coarctation of aorta, Patent ductus arteriosus OMIM:619480
Stevenson-Carey Syndrome
Microphthalmia OMIM:611961
Fanconi Anemia, Complementation Group R
Hydrocephalus, Microphthalmia OMIM:617244
Diamond-Blackfan Anemia
Abnormal heart morphology, Radial artery aplasia, Ventricular septal defect, Coarctation of aorta... ORPHA:124
Brittle Cornea Syndrome 1
Red hair OMIM:229200
X-Linked Dominant Chondrodysplasia Punctata
Microphthalmia, Hypertelorism ORPHA:35173
Duane-Radial Ray Syndrome
Microphthalmia, Spina bifida occulta, Optic disc hypoplasia, Hypertelorism OMIM:607323
Martsolf Syndrome 1
Hypoplasia of the maxilla, Micrognathia, Microphthalmia OMIM:212720
Wiedemann-Rautenstrauch Syndrome
Prominent scalp veins, Dysplastic pulmonary valve, Congenital malformation of the left heart, Pul... ORPHA:3455
Congenital Primary Aphakia
Aniridia, Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Phthi... ORPHA:83461
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypokalemia, Hyperpigmentation of the skin, Decreased circulating renin level OMIM:202010
Microphthalmia, Isolated, With Corectopia
Microphthalmia OMIM:156900
Noonan Syndrome 1
Hypertrophic cardiomyopathy, Ventricular septal defect, Coarctation of aorta, Atrial septal defec... OMIM:163950
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Buphthalmos, Hydrocephalus, Microphthalmia OMIM:616538
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia, Hypertelorism OMIM:248450
Jacobsen Syndrome
Micrognathia, Macular hypoplasia, Hydrocephalus, Microphthalmia, Holoprosencephaly, Hypertelorism OMIM:147791
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypoalbuminemia, Pancytopenia, Hypocalcemia, Anemia, Unconjugated hyperbilirubinemia OMIM:613658
Basel-Vanagaite-Smirin-Yosef Syndrome
Microphthalmia, Mandibular prognathia, Retrognathia, Hypertelorism ORPHA:464738
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Hypokalemia, Absent axillary hair, Absent pubic hair, Decreased circulating renin level ORPHA:90793
Fanconi Anemia, Complementation Group I
Optic nerve hypoplasia, Microphthalmia OMIM:609053
Warburg Micro Syndrome 2
Microphthalmia, Deeply set eye OMIM:614225
Oculoauricular Syndrome
Macular hypoplasia, Phthisis bulbi, Microphakia, Microphthalmia, Spina bifida occulta, Short mand... OMIM:612109
Fontaine Progeroid Syndrome
Proptosis, Retrognathia, Umbilical hernia, Micrognathia, Hydrocephalus, Hypertelorism, Microphtha... OMIM:612289
Microcephaly-Micromelia Syndrome
Aqueductal stenosis, Micrognathia, Microphthalmia OMIM:251230
Focal Dermal Hypoplasia
Hypoplasia of the iris, Abnormal dental enamel morphology, Umbilical hernia, Spina bifida, Microp... ORPHA:2092
Igg4-Related Thyroid Disease
Hypocalcemia ORPHA:64744
Diamond-Blackfan Anemia 1
Coarctation of aorta, Tricuspid stenosis, Atrial septal defect, Ventricular septal defect OMIM:105650
Rothmund-Thomson Syndrome, Type 2
Mandibular prognathia, Delayed eruption of teeth, Micrognathia, Microphthalmia, Hypoplasia of tee... OMIM:268400
T-Cell Immunodeficiency With Thymic Aplasia
Hypocalcemic tetany, Decreased proportion of naive T cells, Aplasia of the thymus, Coombs-positiv... ORPHA:83471
Brittle Cornea Syndrome
Pulmonic stenosis, Mitral valve prolapse ORPHA:90354
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Microphthalmia, Cleft mandible, Agenesis of central incisor, Hypertelorism ORPHA:364577
Microphthalmia With Brain And Digit Anomalies
Anophthalmia, Microphthalmia ORPHA:139471
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Aortic dissection, Arterial calcification, Medial calcification of large... ORPHA:51608
2Q31.1 Microdeletion Syndrome
Microphthalmia, Micrognathia, Proptosis, Hypertelorism ORPHA:251014
Micro Syndrome
Micrognathia, Microphthalmia ORPHA:2510
Cerebrofacioarticular Syndrome
Abnormal heart morphology, Pulmonic stenosis ORPHA:314679
Jacobsen Syndrome
Aortic valve stenosis, Coarctation of aorta, Hypoplastic left heart, Ventricular septal defect ORPHA:2308
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Microphthalmia, Mandibular prognathia, Hypertelorism ORPHA:1236
Gitelman Syndrome
Hypermagnesemia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Iron deficiency anemia ORPHA:358
Anterior Segment Dysgenesis 2
Microphthalmia, Aniridia, Anterior segment of eye aplasia, Congenital aphakia OMIM:610256
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Buphthalmos, Microphthalmia OMIM:212550
Spondylodysplastic Ehlers-Danlos Syndrome
Aortic valve stenosis, Abnormal heart valve morphology, Prominent scalp veins, Atrial septal defe... ORPHA:536471
Cornea Plana 2, Autosomal Recessive
Microphthalmia OMIM:217300
Anterior Segment Dysgenesis 7
Buphthalmos, Microphthalmia OMIM:269400
Cockayne Syndrome B
Carious teeth, Dental malocclusion, Hypoplasia of the iris, Deeply set eye, Delayed eruption of p... OMIM:133540
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:98794
Ohdo Syndrome, X-Linked
Microphthalmia, Micrognathia, Hypertelorism OMIM:300895
Cohen Syndrome
Hypoplasia of the maxilla, Micrognathia, Hypoplasia of the zygomatic bone, Microphthalmia ORPHA:193
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Micrognathia, Microphthalmia ORPHA:1352
Peters Plus Syndrome
Hypoplastic left heart, Abnormality of the pulmonary artery, Abnormal pulmonary vein morphology, ... ORPHA:709
Galloway-Mowat Syndrome 1
Microphthalmia, Hypoplasia of the iris, Micrognathia, Hypertelorism OMIM:251300
Monosomy 9Q22.3
Microphthalmia, Hydrocephalus, Delayed eruption of teeth, Umbilical hernia ORPHA:77301
Frontometaphyseal Dysplasia 2
Bicuspid aortic valve, Pulmonic stenosis, Patent ductus arteriosus, Patent foramen ovale OMIM:617137
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Hypoplasia of teeth, Microphthalmia ORPHA:2728
Koolen-De Vries Syndrome Due To A Point Mutation
Cardiomyopathy, Abnormal heart morphology, Ventricular septal defect, Bicuspid aortic valve, Aort... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Cardiomyopathy, Abnormal heart morphology, Ventricular septal defect, Bicuspid aortic valve, Aort... ORPHA:363958
Meckel Syndrome, Type 1
Natal tooth, Occipital encephalocele, Large placenta, Micrognathia, Hypotelorism, Hydrocephalus, ... OMIM:249000
Femoral-Facial Syndrome
Ventricular septal defect, Truncus arteriosus, Coarctation of aorta, Patent ductus arteriosus, Pu... OMIM:134780
Congenital Fibrinogen Deficiency
Microphthalmia ORPHA:335
Refsum Disease
Microphthalmia ORPHA:773
Hardikar Syndrome
Patent foramen ovale, Ventricular septal defect, Pulmonary artery stenosis, Coarctation of aorta,... OMIM:301068
Cardiofaciocutaneous Syndrome
Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Atrial septal defect, Pulmonic sten... ORPHA:1340
Rodrigues Blindness
Microphthalmia OMIM:268320
Encephalocraniocutaneous Lipomatosis
Hypoplasia of the iris, Hydrocephalus, Microphthalmia OMIM:613001
Classical Ehlers-Danlos Syndrome
Arterial dissection, Aortic root aneurysm, Dilatation of the cerebral artery, Mitral valve prolap... ORPHA:287
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Hypertrophic cardiomyopathy, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect OMIM:607721
Microcephaly 20, Primary, Autosomal Recessive
Optic nerve hypoplasia, Microphthalmia OMIM:617914
Cystinosis, Nephropathic
Pigmentary retinopathy, Decreased circulating carnitine concentration, Hypopigmentation of the sk... OMIM:219800
Microphthalmia, Lenz Type
Delayed eruption of teeth, Microphthalmia ORPHA:568
Fanconi Anemia, Complementation Group L
Microphthalmia, Micrognathia, Hydrocephalus, Hypertelorism OMIM:614083
8Q24.3 Microdeletion Syndrome
Abnormal heart morphology, Atrioventricular canal defect, Complete atrioventricular canal defect,... ORPHA:508488
Acrofrontofacionasal Dysostosis 1
Microphthalmia, Mandibular prognathia, Hypertelorism OMIM:201180
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypocalcemic seizures, Hypocalcemia ORPHA:2237
Tbck-Related Intellectual Disability Syndrome
Pulmonic stenosis, Ventricular septal defect ORPHA:488632
Osteogenesis Imperfecta
Arterial dissection, Aortic root aneurysm, Aortic dissection, Mitral valve prolapse, Aortic aneur... ORPHA:666
Mayer-Rokitansky-Küster-Hauser Syndrome
Atrial septal defect, Pulmonic stenosis ORPHA:3109
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Hypopigmented skin patches, Premature graying of hair, Abnormal eyebrow morphology, Splenomegaly,... ORPHA:163746
Isolated Arrhinia
Microphthalmia, Hypoplasia of the nasal bone, Hypertelorism ORPHA:1134
Vitreoretinochoroidopathy
Microphthalmia OMIM:193220
Trichothiodystrophy 1, Photosensitive
Retrognathia, Microphthalmia OMIM:601675
Trichothiodystrophy
Carious teeth, Retrognathia, Bilateral microphthalmos, Umbilical hernia, Hypotelorism, Enamel hyp... ORPHA:33364
Autosomal Dominant Kenny-Caffey Syndrome
Anemia, Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia ORPHA:93325
Chromosome 1P36 Deletion Syndrome, Distal
Dilated cardiomyopathy, Aortic root aneurysm, Tetralogy of Fallot, Patent foramen ovale, Ventricu... OMIM:607872
Chromosome 13Q14 Deletion Syndrome
Umbilical hernia, Micrognathia, Hypotelorism, Microphthalmia, Holoprosencephaly OMIM:613884
Mosaic Variegated Aneuploidy Syndrome 1
Atrial septal defect, Pulmonic stenosis OMIM:257300
Legius Syndrome
Pulmonic stenosis, Mitral valve prolapse ORPHA:137605
Oculocerebral Hypopigmentation Syndrome, Cross Type
Iris hypopigmentation, Hypopigmentation of hair, Anemia, Ocular albinism ORPHA:2719
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microphthalmia ORPHA:231736
Microphthalmia, Syndromic 5
Optic nerve hypoplasia, Anophthalmia, Microphthalmia OMIM:610125
Cardiofaciocutaneous Syndrome 1
Hypertrophic cardiomyopathy, Atrial septal defect, Pulmonic stenosis OMIM:115150
Osteopetrosis, Autosomal Recessive 8
Unilateral microphthalmos OMIM:615085
Kabuki Syndrome
Coarctation of aorta, Abnormal cardiac septum morphology ORPHA:2322
Koolen-De Vries Syndrome
Abnormality of hair texture, Hypopigmentation of hair ORPHA:96169
Leopard Syndrome 1
Hypertrophic cardiomyopathy, Complete atrioventricular canal defect, Mitral valve prolapse, Subva... OMIM:151100
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Anomalous origin of left subclavian artery, Abnormal heart morphology, Patent foramen ovale, Vent... ORPHA:438213
Autosomal Dominant Cutis Laxa
Peripheral pulmonary artery stenosis, Dilatation of the ventricular cavity, Coarctation of aorta,... ORPHA:90348
Familial Exudative Vitreoretinopathy
Microphthalmia ORPHA:891
Dermatomyositis
Alopecia, Abnormal eosinophil morphology, Elevated circulating creatine kinase concentration, Abn... ORPHA:221
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Bilateral superior vena cava, Hypertrophic cardiomyopathy, Mitral atresia, Bicuspid aortic valve,... OMIM:220111
Monosomy 13Q14
Microphthalmia, Holoprosencephaly, Micrognathia, Hypertelorism ORPHA:1587
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Aortic valve stenosis, Abnormal heart morphology, Patent foramen ovale, Abnormal subclavian arter... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Aortic valve stenosis, Abnormal heart morphology, Patent foramen ovale, Abnormal subclavian arter... ORPHA:353277
Fanconi Anemia, Complementation Group N
Microphthalmia, Hypertelorism OMIM:610832
Proboscis Lateralis
Proptosis, Anophthalmia, Aplasia/Hypoplasia of the maxilla, Hypertelorism, Microphthalmia, Cyclop... ORPHA:141099
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Carious teeth, Natal tooth, Branchial cyst, Micrognathia, Microphthalmia, Hypertelorism OMIM:620186
Matthew-Wood Syndrome
Anophthalmia, Microphthalmia ORPHA:2470
Kapur-Toriello Syndrome
Microphthalmia ORPHA:2328
Dubowitz Syndrome
Carious teeth, Delayed eruption of teeth, Hypoplasia of the iris, Micrognathia, Microphthalmia OMIM:223370
Neu-Laxova Syndrome 1
Hydranencephaly, Proptosis, Small placenta, Micrognathia, Short umbilical cord, Spina bifida, Hyp... OMIM:256520
Costello Syndrome
Hypertrophic cardiomyopathy, Mitral valve prolapse, Ventricular septal defect, Atrial septal defe... OMIM:218040
Linear Skin Defects With Multiple Congenital Anomalies 3
Microphthalmia, Delayed eruption of primary teeth OMIM:300952
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Micrognathia, Hypotelorism, Deeply set eye, Microphthalmia, Hypertelorism OMIM:616975
Oculocerebrorenal Syndrome Of Lowe
Carious teeth, Delayed eruption of teeth, Umbilical hernia, Abnormal dental enamel morphology, Mi... ORPHA:534
Au-Kline Syndrome
Aortic root aneurysm OMIM:616580
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Fanconi Anemia, Complementation Group D2
Microphthalmia, Hydrocephalus, Hypotelorism, Hypertelorism OMIM:227646
3Q29 Microduplication Syndrome
Aniridia, Microphthalmia ORPHA:251038
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Microretrognathia, Proptosis, Retrognathia, Bilateral microphthalmos, Hypotelorism, Lobar holopro... ORPHA:468631
Ectodermal Dysplasia-Blindness Syndrome
Microphthalmia ORPHA:1806
Mowat-Wilson Syndrome
Abnormal heart morphology, Ventricular septal defect, Pulmonary artery sling, Pulmonary artery st... OMIM:235730
45,X/46,Xy Mixed Gonadal Dysgenesis
Bicuspid aortic valve, Coarctation of aorta ORPHA:1772
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Aortic rupture, Patent ductus arteriosus OMIM:614557
Hypermobile Ehlers-Danlos Syndrome
Arterial dissection, Aortic root aneurysm, Mitral valve prolapse, Venous insufficiency, Ascending... ORPHA:285
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Right aortic arch, Ventricular septal defect ORPHA:513456
Aicardi Syndrome
Prominence of the premaxilla, Spina bifida, Microphthalmia OMIM:304050
17Q11 Microdeletion Syndrome
Dilatation of the cerebral artery, Abnormal heart morphology, Hypertrophic cardiomyopathy, Abnorm... ORPHA:97685
Pallister-Hall Syndrome
Holoprosencephaly, Natal tooth, Microphthalmia OMIM:146510
Blomstrand Lethal Chondrodysplasia
Coarctation of aorta ORPHA:50945
Teebi-Shaltout Syndrome
Microphthalmia, Hypertelorism OMIM:272950
Kapur-Toriello Syndrome
Microphthalmia OMIM:244300
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Abnormal aortic arch morphology, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonar... ORPHA:96334
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Hypoplastic aortic arch ORPHA:457284
Hallermann-Streiff Syndrome
Micrognathia, Natal tooth, Supernumerary tooth, Microphthalmia ORPHA:2108
Bosma Arhinia Microphthalmia Syndrome
Microphthalmia, Hypoplasia of teeth, Dental malocclusion, Hypertelorism OMIM:603457
Microphthalmia/Coloboma 12
Optic nerve aplasia, Microphthalmia OMIM:120200
Microphthalmia With Limb Anomalies
Hypoplasia of the premaxilla, Hypoplasia of the maxilla, True anophthalmia, Micrognathia, Hydroce... ORPHA:1106
Chondrodysplasia Punctata 2, X-Linked Dominant
Microphthalmia OMIM:302960
Cushing Syndrome Due To Ectopic Acth Secretion
Lymphopenia, Leukocytosis, Hirsutism, Hyperpigmentation of the skin, Decreased eosinophil count, ... ORPHA:99889
Arboleda-Tham Syndrome
Secundum atrial septal defect, Ventricular septal defect, Atrial septal defect, Patent ductus art... OMIM:616268
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Failure of eruption of permanent teeth, Anophthalmia, Microphthalmia ORPHA:2250
Cocaine Intoxication
Subarachnoid hemorrhage, Ischemic stroke, Aortic dissection, Cerebral hemorrhage ORPHA:90068
Holoprosencephaly 2
Alobar holoprosencephaly, Proptosis, Semilobar holoprosencephaly, Hypotelorism, Aplasia of the pr... OMIM:157170
Oculodentodigital Dysplasia
Taurodontia, Carious teeth, Enamel hypoplasia, Microphthalmia OMIM:164200
Norrie Disease
Hypoplasia of the iris, Buphthalmos, Microphthalmia OMIM:310600
Perlman Syndrome
Interrupted aortic arch OMIM:267000
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Aortic valve stenosis, Ventricular hypertrophy, Mitral stenosis, Ventricular septal defect, Tricu... OMIM:143095
Ileal Neuroendocrine Tumor
Tricuspid stenosis, Pulmonic stenosis ORPHA:100078
Sim1-Related Prader-Willi-Like Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:398079
Bartsocas-Papas Syndrome 1
Microphthalmia, Hypoplasia of the maxilla, Micrognathia, Hypertelorism OMIM:263650
Charge Syndrome
Delayed eruption of teeth, Hypoplasia of the zygomatic bone, Umbilical hernia, Anophthalmia, Hype... ORPHA:138
Ctcf-Related Neurodevelopmental Disorder
Coarctation of aorta, Patent ductus arteriosus, Atrial septal defect ORPHA:363611
Neurofibromatosis-Noonan Syndrome
Secundum atrial septal defect, Pulmonic stenosis OMIM:601321
Turner Syndrome Due To Structural X Chromosome Anomalies
Arterial dissection, Hypoplastic left heart, Aortic dissection, Aortic arch aneurysm, Gastrointes... ORPHA:99413
Mosaic Monosomy X
Arterial dissection, Hypoplastic left heart, Aortic dissection, Aortic arch aneurysm, Gastrointes... ORPHA:99228
Monosomy X
Arterial dissection, Hypoplastic left heart, Aortic dissection, Aortic arch aneurysm, Gastrointes... ORPHA:99226
Turner Syndrome
Arterial dissection, Hypoplastic left heart, Aortic dissection, Aortic arch aneurysm, Gastrointes... ORPHA:881
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Dental malocclusion, Microphthalmia OMIM:608940
Beckwith-Wiedemann Syndrome
Otosclerosis, Proptosis, Umbilical hernia, Large placenta, Mandibular prognathia, Wide anterior f... ORPHA:116
Roberts Syndrome
Microphthalmia, Micrognathia, Proptosis, Hypertelorism ORPHA:3103
Persistent Hyperplastic Primary Vitreous
Phthisis bulbi, Macular hypoplasia, Buphthalmos, Microphthalmia ORPHA:91495
Prader-Willi Syndrome Due To Translocation
Iris hypopigmentation, Hypopigmentation of the skin, Hyperpigmentation of the skin, Stellate iris... ORPHA:177907
Microphthalmia With Linear Skin Defects Syndrome
Retrognathia, Abnormal dental enamel morphology, Micrognathia, Anophthalmia, Hydrocephalus, Mandi... ORPHA:2556
Johanson-Blizzard Syndrome
Fair hair, Frontal upsweep of hair, Hypocalcemia, Splenomegaly, Increased VLDL cholesterol concen... OMIM:243800
Autosomal Recessive Faciodigitogenital Syndrome
Hypopigmentation of hair, Dry hair, Widow's peak, Coarse hair ORPHA:1974
Floating-Harbor Syndrome
Persistent left superior vena cava, Coarctation of aorta, Mesocardia, Atrial septal defect OMIM:136140
3Q29 Microdeletion Syndrome
Microphthalmia ORPHA:65286
Kabuki Syndrome 1
Coarctation of aorta, Atrial septal defect, Ventricular septal defect OMIM:147920
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Abnormal heart morphology, Hypertrophic cardiomyopathy, Mitral valve prolapse, Ventricular septal... ORPHA:363700
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Microphthalmia, Cleft mandible, Micrognathia, Hypertelorism OMIM:608670
Lymphedema-Distichiasis Syndrome
Micrognathia, Microphthalmia OMIM:153400
Focal Dermal Hypoplasia
Dental malocclusion, Delayed eruption of teeth, Umbilical hernia, Myelomeningocele, Aniridia, Ano... OMIM:305600
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Unilateral microphthalmos, Enamel hypoplasia OMIM:618874
Skin Creases, Congenital Symmetric Circumferential, 2
Microphthalmia, Carious teeth, Micrognathia, Hypertelorism OMIM:616734
Acro-Renal-Ocular Syndrome
Microphthalmia, Optic disc hypoplasia, Hypertelorism ORPHA:959
Fraser Syndrome
Dental malocclusion, Umbilical hernia, Myelomeningocele, Encephalocele, Anophthalmia, Hypertelori... ORPHA:2052
Vascular Ehlers-Danlos Syndrome
Arterial dissection, Pulmonary artery aneurysm, Arteriovenous fistulas of celiac and mesenteric v... ORPHA:286
Magel2-Related Prader-Willi-Like Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:398069
Monosomy 9P
Microphthalmia, Micrognathia, Hypertelorism ORPHA:261112
Papillorenal Syndrome
Microphthalmia OMIM:120330
Digeorge Syndrome
Interrupted aortic arch, Right aortic arch with mirror image branching, Tetralogy of Fallot, Trun... OMIM:188400
Smith-Lemli-Opitz Syndrome
Hypertrophic cardiomyopathy, Ventricular septal defect, Coarctation of aorta, Atrial septal defec... OMIM:270400
Oculopalatocerebral Syndrome
Microphthalmia OMIM:257910
Holoprosencephaly 1
Alobar holoprosencephaly, Hypotelorism, Ethmocephaly, Microphthalmia, Cyclopia OMIM:236100
Cockayne Syndrome
Carious teeth, Dental malocclusion, Deeply set eye, Delayed eruption of primary teeth, Enamel hyp... ORPHA:191
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Phthisis bulbi, Buphthalmos, Microphthalmia OMIM:221900
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:98754
Floating-Harbor Syndrome
Tetralogy of Fallot, Mesocardia, Persistent left superior vena cava, Coarctation of aorta, Atrial... ORPHA:2044
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:98793
Fraser Syndrome 1
Dental malocclusion, Bilateral microphthalmos, Myelomeningocele, Encephalocele, Anophthalmia, Hyd... OMIM:219000
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Microphthalmia, Micrognathia, Hypertelorism OMIM:609945
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:177901
Fanconi Anemia, Complementation Group F
Microphthalmia OMIM:603467
Yunis-Varon Syndrome
Proptosis, Bilateral microphthalmos, Micrognathia, Hydrocephalus, Microphthalmia, Hypertelorism, ... ORPHA:3472
Traboulsi Syndrome
Dental malocclusion, Retrognathia, Microphthalmia OMIM:601552
Xeroderma Pigmentosum, Complementation Group B
Microphthalmia OMIM:610651
Microphthalmia, Syndromic 3
Optic nerve aplasia, Optic nerve hypoplasia, Anophthalmia, Microphthalmia OMIM:206900
Biliary, Renal, Neurologic, And Skeletal Syndrome
Primum atrial septal defect, Unbalanced atrioventricular canal defect, Pulmonary artery dilatatio... OMIM:619534
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Few cafe-au-lait spots, Hypocalcemia OMIM:620330
Xeroderma Pigmentosum, Complementation Group D
Microphthalmia OMIM:278730
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Microphthalmia ORPHA:85167
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Anophthalmia, Microphthalmia OMIM:615877
Histiocytoid Cardiomyopathy
Congenital aphakia, Hydrocephalus, Microphthalmia ORPHA:137675
Prader-Willi Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:739
Fryns Syndrome
Microphthalmia, Microretrognathia, Hypertelorism OMIM:229850
Witteveen-Kolk Syndrome
Microretrognathia, Branchial fistula, Hyperplasia of the maxilla, Deeply set eye, Shallow orbits,... OMIM:613406
Fanconi Anemia, Complementation Group E
Microphthalmia OMIM:600901
Nicolaides-Baraitser Syndrome
Coarctation of aorta OMIM:601358
Fanconi Anemia, Complementation Group A
Microphthalmia OMIM:227650
Neuroocular Syndrome 1
Retrognathia, Umbilical hernia, Deeply set eye, Hypoplasia of the fovea, Microphthalmia, Lens col... OMIM:619539
Steinfeld Syndrome
Holoprosencephaly, Microphthalmia OMIM:184705
Aicardi Syndrome
Prominence of the premaxilla, Microphthalmia ORPHA:50
Simpson-Golabi-Behmel Syndrome, Type 1
Total anomalous pulmonary venous return, Cardiomyopathy, Right ventricular hypertrophy, Ventricul... OMIM:312870
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Micrognathia, Microphthalmia OMIM:620005
Blepharophimosis, Ptosis, And Epicanthus Inversus
Microphthalmia OMIM:110100
Pierson Syndrome
Hypoplasia of the iris, Rieger anomaly, Macular hypoplasia, Hypoplasia of the ciliary body, Micro... OMIM:609049
Fanconi Anemia, Complementation Group C
Microphthalmia OMIM:227645
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Micrognathia, Hypoplasia of the retina, Hydrocephalus, Microphthalmia, Buphthalmos OMIM:253280
Hydrolethalus Syndrome 1
Microphthalmia, Micrognathia, Anencephaly, Severe hydrocephalus OMIM:236680
Menkes Disease
Woolly hair, Hypopigmentation of hair, Sparse hair ORPHA:565
Branchiooculofacial Syndrome
Micrognathia, Branchial anomaly, Anophthalmia, Cleft of chin, Microphthalmia, Hypertelorism OMIM:113620
Microgastria-Limb Reduction Defect Syndrome
Anophthalmia, Microphthalmia ORPHA:2538
Smith-Lemli-Opitz Syndrome
Abnormal eyelash morphology, Hypopigmentation of hair, Elevated circulating 7-dehydrocholesterol ... ORPHA:818
Craniofacial Microsomia 1
Tetralogy of Fallot, Right aortic arch, Ventricular septal defect, Coarctation of aorta, Patent d... OMIM:164210
Pallister-Hall Syndrome
Atrioventricular canal defect, Ventricular septal defect, Coarctation of aorta, Atrial septal def... ORPHA:672
Tetraamelia Syndrome 1
Micrognathia, Hydrocephalus, Microphthalmia OMIM:273395
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Anophthalmia, Microphthalmia ORPHA:2526
Roberts-Sc Phocomelia Syndrome
Proptosis, Hyperplasia of the maxilla, Micrognathia, Shallow orbits, Hydrocephalus, Frontal encep... OMIM:268300
Oculo-Palato-Cerebral Syndrome
Microphthalmia ORPHA:2714
Linear Nevus Sebaceus Syndrome
Microphthalmia ORPHA:2612
Renpenning Syndrome 1
Micrognathia, Mandibular prognathia, Microphthalmia OMIM:309500
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Aortic valve stenosis, Tetralogy of Fallot, Abnormal heart morphology, Abnormal pulmonary valve m... ORPHA:261552
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Aortic valve stenosis, Tetralogy of Fallot, Abnormal heart morphology, Abnormal pulmonary valve m... ORPHA:261537
Fraser Syndrome 2
Microphthalmia OMIM:617666
Peters-Plus Syndrome
Atrial septal defect, Patent ductus arteriosus, Pulmonic stenosis, Ventricular septal defect OMIM:261540
Mowat-Wilson Syndrome
Aortic valve stenosis, Tetralogy of Fallot, Abnormal heart morphology, Pulmonary artery sling, Bi... ORPHA:2152
Osteoporosis-Pseudoglioma Syndrome
Phthisis bulbi, Microphthalmia OMIM:259770
Norrie Disease
Hypoplasia of the iris, Hypotelorism, Deeply set eye, Aplasia/Hypoplasia of the lens, Microphthalmia ORPHA:649
Microphthalmia, Syndromic 6
Retrognathia, Micrognathia, Anophthalmia, Microphthalmia OMIM:607932
Lowe Oculocerebrorenal Syndrome
Enamel hypoplasia, Microphthalmia OMIM:309000
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Hyponatremia, Hyperkalemia, Decreased circulating renin level OMIM:201750
Pallister-Killian Syndrome
Aortic valve stenosis, Hypertrophic cardiomyopathy, Ventricular septal defect, Coarctation of aor... OMIM:601803
Treacher Collins Syndrome 1
Micrognathia, Bilateral microphthalmos OMIM:154500
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Hypoplasia of the iris, Hydrocephalus, Microphthalmia OMIM:175780
Townes-Brocks Syndrome
Microphthalmia ORPHA:857
Microphthalmia, Syndromic 1
Agenesis of maxillary lateral incisor, Anophthalmia, Microphthalmia OMIM:309800

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Hectd1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Hectd1.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
HectD1 controls hematopoietic stem cell regeneration by coordinating ribosome assembly and protein synthesis. Cell stem cell (March 2021) Hectd1tm1a(EUCOMM)Hmgu PMC8254759

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Hectd1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Hectd1tm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice
Hectd1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Hectd1tm1(NCOM)Mfgc Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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