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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
decreased circulating alkaline phosphatase level Hectd1tm1b(EUCOMM)Hmgu HET Early adult 5.75×10-05
increased basophil cell number Hectd1tm1b(EUCOMM)Hmgu HET Early adult 3.21×10-40
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
increased eosinophil cell number Hectd1tm1b(EUCOMM)Hmgu HET Early adult 8.38×10-21

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
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta 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
Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Aortic valve stenosis, A... OMIM:615779
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis OMIM:601127
Ventricular Septal Defect 1
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... OMIM:614429
Nevoid Hypermelanosis, Linear And Whorled
Hyperpigmented streaks, Eosinophilia OMIM:614323
Coronary Artery Dissection, Spontaneous
Cystic medial necrosis, Coronary artery dissection OMIM:122455
Atrioventricular Septal Defect 5
Muscular ventricular septal defect, Atrioventricular canal defect, Hypoplastic left heart OMIM:614474
Hypoplastic Left Heart Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta OMIM:241550
Cayler Cardiofacial Syndrome
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect OMIM:125520
Aorto-Ventricular Tunnel
Ventricular hypertrophy, Abnormal coronary artery morphology, Abnormal heart valve morphology, Ao... ORPHA:3400
Aorta Coarctation
Pseudocoarctation of the aorta, Bicuspid aortic valve, Cardiomegaly, Patent ductus arteriosus, Hy... ORPHA:1457
Tricuspid Atresia
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Hypoplasia of right ventri... ORPHA:1209
Immunodeficiency 88
Eosinophilia OMIM:619630
Autosomal Dominant Coarctation Of Aorta
Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m... ORPHA:1455
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia, Ventricular septal defect OMIM:178370
Atrial Septal Defect 4
Atrial septal defect, Patent foramen ovale, Coarctation of aorta 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
Bicuspid aortic valve, Aortic root aneurysm, Ascending aortic dissection, Atrial septal defect, A... OMIM:618496
Congenital Heart Defects, Multiple Types, 7
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s... OMIM:618780
Eosinophilia, Familial
Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia OMIM:131400
Long Qt Syndrome 16
Patent ductus arteriosus after birth at term, Perimembranous ventricular septal defect OMIM:618782
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Retinal arterial macroaneurysms, Pulmonic stenosis OMIM:614224
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
Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran... OMIM:606217
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... OMIM:202700
Ventricular Septal Defect 2
Perimembranous ventricular septal defect OMIM:614431
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia, Hypocalcemia DECIPHER:16
Congenital Heart Defects, Multiple Types, 6
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... OMIM:613854
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Decreased serum iron, Hypereosinophilia, Abnormal proportion of CD8-positi... OMIM:212050
Ichthyosis-Prematurity Syndrome
Eosinophilia ORPHA:88621
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Bicuspid aortic valve, Patent ductus arteriosus, Pseudocoarctation of the aorta ORPHA:228190
Ferguson-Bonni Neurodevelopmental Syndrome
Patent foramen ovale, Coronary-pulmonary artery fistula OMIM:619699
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Overriding aorta, Ventricular septal defect, Patent ductus arteriosus, Vascular ring, Atrial sept... OMIM:601927
Cranioacrofacial Syndrome
Ventricular septal defect, Pulmonic stenosis OMIM:122850
Supravalvular Aortic Stenosis
Pulmonary artery stenosis, Peripheral arterial stenosis, Pulmonic stenosis OMIM:185500
Familial Aortic Dissection
Cardiomegaly, Descending thoracic aorta aneurysm, Patent ductus arteriosus, Mucoid extracellular ... ORPHA:229
Griscelli Syndrome, Type 1
Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar... OMIM:214450
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Mesoaxial Hexadactyly And Cardiac Malformation
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Pulmonic stenosis OMIM:249670
Chromosome 1P36 Deletion Syndrome, Proximal
Bicuspid aortic valve, Ventricular septal defect, Complete atrioventricular canal defect, Patent ... OMIM:619343
Pulmonic Stenosis And Deafness
Ventricular hypertrophy, Pulmonic stenosis OMIM:178651
Aortic Aneurysm, Familial Thoracic 4
Cystic medial necrosis, Anterior cerebral artery stenosis, Posterior cerebral artery stenosis, Th... OMIM:132900
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Hypopigmentation of hair, Partial albinism, Neutropenia ORPHA:90023
Atrial Septal Defect 2
Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Pulmonic stenosis, Atrial sept... OMIM:607941
Aneurysm Of Interventricular Septum
Abnormal ventricular septum morphology, Vascular dilatation OMIM:105805
Acute Myelomonocytic Leukemia
Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia ORPHA:517
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Hypercalcemia OMIM:211000
Adamantinoma
Hypercalcemia ORPHA:55881
Distal Duplication 14Q
Patent ductus arteriosus, Abnormal aortic morphology ORPHA:1705
Cardiac Valvular Dysplasia 1
Atrial septal defect, Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, Val... OMIM:212093
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Overriding aorta, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Double outle... ORPHA:3304
Generalized Eruptive Histiocytosis
Spotty hyperpigmentation, Leukemia, Hypereosinophilia, Histiocytosis ORPHA:157991
Aortic Aneurysm, Familial Thoracic 7
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection, Aortic rupture OMIM:613780
Congenital Heart Defects, Multiple Types, 5
Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ... OMIM:617912
Ventricular Septal Defect 3
Pulmonary artery stenosis, Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:614432
Hypoplastic Left Heart Syndrome
Mitral atresia, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplastic left heart, Atrial... ORPHA:2248
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Bicuspid aortic valve, Patent ductus arteriosus, Pseudocoarctation of the aorta OMIM:604381
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Cardiomyopathy, Dilated, 2H
Secundum atrial septal defect, Muscular ventricular septal defect OMIM:620203
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Patent ductus arteriosus, Abnormal cardiac septum morphology, Coarctation of aorta OMIM:601612
Aortic Aneurysm, Familial Thoracic 8
Coronary artery dissection, Descending aortic dissection, Coronary artery aneurysm, Ascending aor... OMIM:615436
Aortic Valve Disease 2
Bicuspid aortic valve, Patent foramen ovale, Calcification of the aorta, Coarctation of aorta, As... OMIM:614823
Cardiomyopathy, Dilated, 1S
Bicuspid aortic valve, Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Coarctatio... OMIM:613426
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
16P13.11 Microduplication Syndrome
Ventricular septal defect, Coarctation of aorta, Transposition of the great arteries, Atrial sept... ORPHA:261243
Mitochondrial Complex I Deficiency, Nuclear Type 39
Atrial septal defect, Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Card... OMIM:620135
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis OMIM:617992
Hypereosinophilic Syndrome, Idiopathic
Myeloproliferative disorder, Splenomegaly, Eosinophilia OMIM:607685
Congenital Heart Defects, Multiple Types, 2
Bicuspid aortic valve, Ventricular septal defect, Myxomatous mitral valve degeneration, Subvalvul... OMIM:614980
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Patent foramen ovale, Abnorma... ORPHA:477817
Laubry-Pezzi Syndrome
Aortic valve prolapse, Bicuspid aortic valve, Abnormal coronary artery morphology, Ventricular se... ORPHA:99094
Congenital Heart Defects, Multiple Types, 9
Aortopulmonary collateral arteries, Mitral atresia, Arteria lusoria, Double outlet right ventricl... OMIM:620294
Genitopalatocardiac Syndrome
Right aortic arch, Double outlet right ventricle, Ventricular septal defect, Transposition of the... OMIM:231060
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Albinism, Oculocutaneous, Type Iii
Red hair, Partial albinism, Albinism OMIM:203290
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Lymphopenia, Eosinophilia ORPHA:2582
Right Pulmonary Artery, Anomalous Origin Of, Familial
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ... OMIM:610338
Juvenile Temporal Arteritis
Leukocytosis, Eosinophilia ORPHA:26137
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Abnormal aortic morphology, Ventricular septal defect, Abnormal tricuspid valve morphology ORPHA:3405
Conotruncal Heart Malformations
Complete atrioventricular canal defect, Double outlet right ventricle, Coarctation of aorta, Tran... OMIM:217095
Heterotaxy, Visceral, 8, Autosomal
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Aortopulmonary collater... OMIM:617205
Megabladder, Congenital
Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, ... OMIM:618719
Cardiomyopathy, Dilated, 2D
Perinuclear cardiomyocyte vacuolization, Muscular ventricular septal defect, Dilated cardiomyopat... OMIM:619371
Diamond-Blackfan Anemia 16
Atrial septal defect, Pulmonic stenosis OMIM:617408
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Arteriovenous malformation, Overriding aorta, Abnormal aortic arch morphology ORPHA:1110
Double Outlet Left Ventricle
Double outlet left ventricle, Ventricular septal defect, Abnormal coronary artery course, Cardiom... ORPHA:3427
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
Eosinophil Peroxidase Deficiency
Eosinophil nuclear hypersegmentation OMIM:261500
Aortic Aneurysm, Familial Thoracic 6
Thoracic aortic aneurysm, Descending aortic dissection, Premature coronary artery atherosclerosis... OMIM:611788
8P23.1 Duplication Syndrome
Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis ORPHA:251076
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Ventricular septal defect, Secundum atrial septal defect, Coarctation of aorta, Perimembranous ve... OMIM:600987
Heterotaxy, Visceral, 4, Autosomal
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... OMIM:613751
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Chromosome 15Q25 Deletion Syndrome
Coronary artery fistula, Abnormal cardiac septum morphology, Ventricular septal defect, Dextrocardia OMIM:614294
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Abnormal coronary artery morphology, Ventricular septal ... ORPHA:860
Tietz Syndrome
Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, White e... ORPHA:42665
Griscelli Syndrome, Type 2
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hepatosplenomegaly, Hemophagocytosi... OMIM:607624
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Patent ductus arteriosus, Overriding aorta, Ventricular septal defect OMIM:617021
Congenital Gerbode Defect
Ventricular septal defect, Right atrial enlargement, Perimembranous ventricular septal defect, Ba... ORPHA:99095
Immunodeficiency 32B
Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burst, Hypoalbumin... OMIM:226990
Heparin Cofactor Ii Deficiency
Post-angioplasty coronary artery restenosis OMIM:612356
Hypoparathyroidism, Familial Isolated, 2
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:618883
Peeling Skin Syndrome 1
Nail dystrophy, Brittle hair, Onycholysis, Eosinophilia OMIM:270300
Heart Defects-Limb Shortening Syndrome
Atrial septal defect, Ventricular septal defect, Abnormal tricuspid valve morphology, Abnormal mi... ORPHA:1354
Heterotaxy, Visceral, 12, Autosomal
Dextrotransposition of the great arteries, Atrial septal defect, Pulmonary artery atresia, Patent... OMIM:619702
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Eosinophilopenia
Decreased eosinophil count OMIM:131430
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hypercalcemia, Anemia ORPHA:2668
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Atrial septal defect, Coronary artery fistula, Patent ductus arteriosus, Ventricular septal defect OMIM:620024
Aortic Aneurysm, Familial Thoracic 9
Ascending aortic dissection, Thoracic aortic aneurysm, Aortic tortuosity, Mitral valve prolapse OMIM:616166
Heterotaxy, Visceral, 6, Autosomal
Dextrocardia, Situs inversus totalis, Common atrium, Right aortic arch, Hypoplastic left heart, T... OMIM:614779
Kimura Disease
Eosinophilia ORPHA:482
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation
Right aortic arch with mirror image branching OMIM:107500
Fibromuscular Dysplasia, Arterial
Arterial fibromuscular dysplasia, Stroke, Aortic dissection OMIM:135580
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Right Atrial Isomerism
Atrial septal defect, Right atrial isomerism, Ventricular septal defect, Aortopulmonary collatera... OMIM:208530
Criss-Cross Heart
Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten... ORPHA:1461
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Transient ischemic attack, Cardiomegaly, Pericardial effusion, Muscular ... OMIM:115197
Diffuse Neonatal Hemangiomatosis
Thrombocytopenia, Hypercalcemia, Anemia ORPHA:2123
Pulmonic Stenosis
Pulmonic stenosis OMIM:265500
Aortic Valve Disease 1
Ventricular septal defect, Bicuspid aortic valve, Mitral stenosis, Mitral atresia, Aortic valve c... OMIM:109730
Immunodeficiency 7
Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Patchy alopecia, Neutropenia, Vitiligo OMIM:615387
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Pulmonary artery atresia, Ventricular septal defect, Left superior vena cava draining directly to... OMIM:613759
Grange Syndrome
Coronary artery stenosis, Bicuspid aortic valve, Renal artery stenosis, Carotid artery stenosis OMIM:602531
Hyperparathyroidism 4
Hypercalcemia OMIM:617343
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
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2
Muscular ventricular septal defect OMIM:620062
Fadd-Related Immunodeficiency
Pulmonary artery atresia, Ventricular septal defect ORPHA:306550
Grange Syndrome
Patent ductus arteriosus, Ventricular septal defect, Arterial stenosis ORPHA:79094
Aortic Aneurysm, Familial Thoracic 12
Ascending tubular aorta aneurysm, Aortic root aneurysm, Bicuspid aortic valve, Ascending aortic d... OMIM:619825
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair ORPHA:1410
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To
Descending aortic dissection, Ascending aortic dissection, Aortic aneurysm OMIM:617349
Hidrotic Ectodermal Dysplasia
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... ORPHA:189
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Atrial septal defect, Pericardial effusion, Multiple muscular ventricular septal defects, Aortic ... OMIM:620070
Heterotaxy, Visceral, 7, Autosomal
Atrial septal defect, Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypopl... OMIM:616749
Cinca Syndrome
Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hepatosplenome... OMIM:607115
Omenn Syndrome
Alopecia, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Hypoplasia of t... OMIM:603554
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T... OMIM:619802
Hypercalcemia, Infantile, 2
Hypercalcemia, Hypophosphatemia OMIM:616963
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Alpha-Heavy Chain Disease
Splenomegaly, Alopecia, Hypocalcemia, Anemia ORPHA:100025
Moyamoya Disease 5
Ascending tubular aorta aneurysm, Moyamoya phenomenon OMIM:614042
Birk-Aharoni Syndrome
Muscular ventricular septal defect OMIM:620071
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Abnormality of the pulmonary artery, Ventricular septal defect, Tetralogy of Fallot, Abnormal aor... ORPHA:1166
Noonan Syndrome 9
Ventricular septal defect, Pulmonic stenosis, Coarctation of aorta OMIM:616559
Congenitally Corrected Transposition Of The Great Arteries
Atrial situs ambiguous, Abnormal tricuspid valve morphology, Abnormal left ventricular outflow tr... ORPHA:216694
Methimazole Embryofetopathy
Abnormal aortic morphology, Ventricular septal defect, Coarctation of aorta ORPHA:1923
Heart Defects, Congenital, And Other Congenital Anomalies
Hypoplastic tricuspid valve, Double outlet left ventricle, Ventricular septal defect, Pulmonary a... OMIM:600001
Lethal Congenital Contracture Syndrome 10
Overriding aorta, Ventricular septal defect, Cardiomegaly OMIM:617022
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities
Eosinophilia, Thin eyebrow, Abnormally low T cell receptor excision circle level OMIM:618092
Mungan Syndrome
Perimembranous ventricular septal defect, Pulmonic stenosis OMIM:611376
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Transketolase Deficiency
Ventricular septal defect, Abnormal coronary artery course, Patent ductus arteriosus, Abnormal he... ORPHA:488618
Isolated Anencephaly/Exencephaly
Anencephaly ORPHA:1048
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Varicose veins, Patent ductus arteriosus, Peripheral arterial stenosis, Ventricular septal defect OMIM:126320
Esophagitis, Eosinophilic, 2
Eosinophilia OMIM:613412
Esophagitis, Eosinophilic, 1
Eosinophilia OMIM:610247
Pyknoachondrogenesis
Stillbirth OMIM:265880
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Alopecia, Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells... ORPHA:169154
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Patent ductus arteriosus, Muscular ventricular septal defect, Abnormal heart morphology, Perimemb... ORPHA:363444
Ciliary Dyskinesia, Primary, 40
Situs inversus totalis, Patent ductus arteriosus, Right aortic arch, Interrupted inferior vena ca... OMIM:618300
Phosphoribosylpyrophosphate Synthetase Superactivity
Cardiomyopathy, Abnormal aortic morphology ORPHA:3222
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Arteria lusoria, Abnor... ORPHA:99050
Mass Syndrome
Mitral valve prolapse, Ascending aortic dissection, Aortic aneurysm OMIM:604308
Fixed Subaortic Stenosis
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Coarcta... ORPHA:3092
Familial Cerebral Saccular Aneurysm
Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh... ORPHA:231160
Waardenburg Syndrome, Type 2F
Hypermelanotic macule, White hair, Blue irides, Premature graying of hair, White forelock, Cafe-a... OMIM:619947
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegaly, Increased p... OMIM:601859
Griscelli Syndrome Type 3
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation ORPHA:79478
Cardiac Diverticulum
Bicuspid aortic valve, Bicuspid pulmonary valve, Pulmonary artery hypoplasia, Atrial septal defec... ORPHA:1686
Eosinophilic Gastroenteritis
Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hypoalbuminemi... ORPHA:2070
Aortic Aneurysm, Familial Thoracic 10
Aortic arch aneurysm, Thoracic aortic aneurysm, Bicuspid aortic valve, Fusiform ascending tubular... OMIM:617168
Albinism, Oculocutaneous, Type Ib
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism OMIM:606952
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Ventricular septal defect, Left ventricular hypertrophy, Secundum atrial septal defect, Subvalvul... OMIM:108900
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Bicuspid aortic valve, Anomalous origin of left coronary artery from the pulmonary artery, Patent... OMIM:618845
Dilution, Pigmentary
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation OMIM:126070
Snijders Blok-Campeau Syndrome
Atrial septal defect, Perimembranous ventricular septal defect, Pulmonic stenosis OMIM:618205
Woolly Hair
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair... ORPHA:170
Rhabdoid Tumor
Thrombocytopenia, Hypercalcemia, Anemia ORPHA:69077
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Elevated circulating creatine kinase concentration OMIM:615883
Partial Atrioventricular Septal Defect
Transient ischemic attack, Bicuspid aortic valve, Coronary sinus enlargement, Partial atrioventri... ORPHA:1330
Sandestig-Stefanova Syndrome
Muscular ventricular septal defect, Perimembranous ventricular septal defect OMIM:618804
Atrial Septal Defect 1
Tetralogy of Fallot with pulmonary atresia, Bicuspid aortic valve, Ventricular septal defect, Sec... OMIM:108800
Waardenburg Syndrome, Type 2B
Premature graying of hair, White forelock, Heterochromia iridis OMIM:600193
15Q11.2 Microdeletion Syndrome
Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Total anomalous pulmo... ORPHA:261183
Immunodeficiency 11B With Atopic Dermatitis
Eosinophilia OMIM:617638
Adams-Oliver Syndrome 4
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:615297
Aortic Aneurysm, Familial Abdominal, 1
Abdominal aortic aneurysm OMIM:100070
Wells Syndrome
Eosinophilia ORPHA:901
Nephronophthisis 16
Situs inversus totalis, Patent ductus arteriosus, Aortic valve stenosis, Pulmonic stenosis, Hyper... OMIM:615382
Marfanoid Habitus With Situs Inversus
Situs inversus totalis, Mitral valve prolapse, Aortic root aneurysm, Pulmonic stenosis, Persisten... OMIM:609008
Familial Bicuspid Aortic Valve
Aortic arch aneurysm, Bicuspid aortic valve, Aortic valve calcification, Coarctation of aorta, As... ORPHA:402075
Congenital Disorder Of Glycosylation, Type Ih
Patent ductus arteriosus, Perimembranous ventricular septal defect OMIM:608104
Hypophosphatasia
Hypercalcemia, Anemia ORPHA:436
Truncus Arteriosus
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... ORPHA:3384
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Complete atrioventricular canal defect, Subvalvular aortic stenosis, Coarctation of aorta OMIM:217085
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Truncus arteriosus, Abnormal aortic morphology, Ventricular septal defect ORPHA:2516
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Isolated Right Ventricular Hypoplasia
Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig... ORPHA:439
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Congenital Alveolar Capillary Dysplasia
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Pulmonary valve atres... ORPHA:210122
Lipodystrophy, Congenital Generalized, Type 3
Hypertriglyceridemia, Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Hypercholesterolemia, Hirsu... OMIM:612526
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis OMIM:614262
Scimitar Syndrome
Pulmonary artery hypoplasia, Atrial septal defect, Single ventricle, Patent ductus arteriosus, Pa... ORPHA:185
Houge-Janssens Syndrome 3
Atrial septal defect, Muscular ventricular septal defect OMIM:618354
Immunodeficiency 49
Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Abno... OMIM:617237
Eosinophilic Fasciitis
Abnormal eosinophil morphology, Eosinophilia ORPHA:3165
Blue Diaper Syndrome
Hyperphosphatemia, Hypercalcemia ORPHA:94086
Transaldolase Deficiency
Atrial septal defect, Biventricular hypertrophy, Coarctation of aorta ORPHA:101028
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Interrupted aortic arch, Coarctation of aorta OMIM:107550
Transposition Of The Great Arteries, Dextro-Looped
Transposition of the great arteries OMIM:608808
Omenn Syndrome
Alopecia, Eosinophilia, Splenomegaly, Leukocytosis, Aplasia/Hypoplasia of the eyebrow, Abnormal l... ORPHA:39041
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalcemia OMIM:239199
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Ventricular hypertrophy, Bicuspid aortic valve, Ventricular septal defect, Patent ductus arterios... ORPHA:284169
Albinism, Oculocutaneous, Type Iv
Hypopigmentation of hair, Blue irides, Albinism OMIM:606574
Cardiac Valvular Dysplasia 2
Bicuspid aortic valve, Ascending tubular aorta aneurysm, Pulmonic stenosis, Subvalvular aortic st... OMIM:620067
Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome
Abnormal heart valve morphology, Pulmonic stenosis, Mitral valve prolapse ORPHA:2868
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Acute lymphoblastic leukemia, Monocytosis,... ORPHA:486
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Patent ductus arteriosus, Abnormal aortic morphology, Hypoplastic left heart ORPHA:2001
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Transient ischemic attack, Bicuspid aortic valve, Subarachnoid hemorrhage, Cardiomegaly, Descendi... ORPHA:91387
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Secundum atrial septal defect, Pulmonic stenosis OMIM:178650
Griscelli Syndrome Type 2
Pancytopenia, Hypopigmentation of hair, Partial albinism, Splenomegaly, Hyperlipidemia, Premature... ORPHA:79477
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Alopecia, Eosinophilia, Autoimmune thrombocytopenia, Anemia, Coombs-positive hemolytic anemia, Ne... OMIM:304790
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Eosinophilia OMIM:618523
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Thoracic aortic aneurysm, Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Part... OMIM:619657
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Eosinophilia, Cutaneous abscess OMIM:147060
Pheochromocytoma--Islet Cell Tumor Syndrome
Axillary freckling, Cafe-au-lait spot, Hypercalcemia OMIM:171420
Cardiomyopathy, Familial Restrictive, 3
Restrictive cardiomyopathy, Right atrial enlargement, Myocardial sarcomeric disarray, Aortic aneu... OMIM:612422
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegaly, Increased p... OMIM:603909
Oculoskeletodental Syndrome
Hypercalcemia, Hypocalcemia, Abnormality of the frontal hairline ORPHA:557003
Hypotrichosis 8
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... OMIM:278150
Paget Disease Of Bone 6
Left ventricular hypertrophy, Coronary artery atherosclerosis OMIM:616833
Isobutyryl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Pulmonic stenosis ORPHA:79159
Double Outlet Right Ventricle
Ventricular septal defect, Double outlet right ventricle, Coarctation of aorta, Hypoplastic left ... ORPHA:3426
Ciliary Dyskinesia, Primary, 37
Right aortic arch, Dextrocardia, Situs inversus totalis OMIM:617577
Infantile Myofibromatosis
Abnormal hair morphology, Irregular hyperpigmentation, Hypercalcemia ORPHA:2591
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia ORPHA:2239
Intellectual Developmental Disorder, Autosomal Dominant 66
Secundum atrial septal defect, Aortic root aneurysm, Transposition of the great arteries, Cerebra... OMIM:619910
Ermine Phenotype
White eyelashes, White eyebrow, Albinism, White hair, Spotty hyperpigmentation, Vitiligo OMIM:227010
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricular noncompaction cardiomyo... OMIM:604169
Feingold Syndrome Type 1
Tricuspid stenosis, Patent ductus arteriosus, Multiple muscular ventricular septal defects, Abnor... ORPHA:391641
Abdominal Obesity-Metabolic Syndrome 3
Coronary artery stenosis, Stroke OMIM:615812
Hypercalcemia, Infantile, 1
Hypercalcemia OMIM:143880
Netherton Syndrome
Sparse scalp hair, Brittle hair, Brittle scalp hair, Sparse eyebrow, Hypereosinophilia OMIM:256500
Roifman Syndrome
Prominent eyelashes, Eosinophilia, Hyperconvex nail, Hepatosplenomegaly ORPHA:353298
Holt-Oram Syndrome
Ventricular septal defect, Patent ductus arteriosus, Anomalous pulmonary venous return, Abnormal ... ORPHA:392
Weill-Marchesani Syndrome
Aortic valve stenosis, Ventricular septal defect, Pulmonic stenosis ORPHA:3449
Late-Onset Isolated Acth Deficiency
Hyponatremia, Normocytic anemia, Macrocytic anemia, Hypercalcemia, Eosinophilia, Hyperkalemia, Hy... ORPHA:199299
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Ventricular septal defect, Coarctation of aorta OMIM:620210
Ritscher-Schinzel Syndrome 1
Ventricular septal defect, Aortic valve stenosis, Hypoplastic left heart, Pulmonic stenosis, Atri... OMIM:220210
Linear Skin Defects With Multiple Congenital Anomalies 1
Atrial septal defect, Overriding aorta, Ventricular septal defect, Histiocytoid cardiomyopathy OMIM:309801
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Alopecia, Sterile abscess, Eosinophilia, Cutaneous abscess OMIM:618282
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Splenomegaly, Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration OMIM:619658
Idiopathic Chronic Eosinophilic Pneumonia
Leukocytosis, Hypereosinophilia, Elevated circulating C-reactive protein concentration ORPHA:2902
Waardenburg Syndrome, Type 4B
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... OMIM:613265
Roifman Syndrome
Splenomegaly, Prominent eyelashes, Eosinophilia OMIM:616651
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Elevated creatine kinase after exercise, Hypercalcemia ORPHA:284426
Sotos Syndrome
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Muscular ventricular s... OMIM:117550
Incontinentia Pigmenti
Ridged nail, Alopecia, Eosinophilia, Supernumerary nipple, Leukocytosis, Nail pits, Fine hair, Ab... OMIM:308300
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Right aortic arch, Coarctation of aorta OMIM:140850
Immunodeficiency 60 And Autoimmunity
Splenomegaly, Pancytopenia, Decreased proportion of memory B cells, Decreased basophil count OMIM:618394
Chromosome 9P Deletion Syndrome
Atrial septal defect, Patent ductus arteriosus, Perimembranous ventricular septal defect, Ventric... OMIM:158170
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Pulmonic stenosis OMIM:264140
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypercalcemia OMIM:614732
Familial Isolated Hyperparathyroidism
Hypercalcemia, Hypophosphatemia ORPHA:99879
Craniotelencephalic Dysplasia
Microphthalmia, Frontal encephalocele, Optic nerve hypoplasia, Hypotelorism OMIM:218670
Immunodeficiency 25
T lymphocytopenia, Autoimmune hemolytic anemia, Eosinophilia OMIM:610163
Gombo Syndrome
Microphthalmia OMIM:233270
Oculoskeletodental Syndrome
Hypercalcemia, Splenomegaly, Low anterior hairline, Low posterior hairline, Hypocalcemia OMIM:618440
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... ORPHA:98849
Hypoplastic Left Heart Syndrome 2
Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia OMIM:614435
Joubert Syndrome 15
Exencephaly OMIM:614464
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Dysplastic pulmonary valve OMIM:300958
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Bicuspid aortic valve, Patent ductus arteriosus, Anomalous pulmonary venous return, Coarctation o... ORPHA:1120
Waardenburg Syndrome, Type 2A
White eyelashes, White eyebrow, Partial albinism, Albinism, Synophrys, Premature graying of hair,... OMIM:193510
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Aplasia of the thymus, Eosinophilia, Splenomegaly, Alopecia of scalp, B lymphocytopenia, Abnormal... OMIM:602450
Intellectual Developmental Disorder, Autosomal Dominant 21
Atrial septal defect, Patent ductus arteriosus, Coarctation of aorta OMIM:615502
Recombinant Chromosome 8 Syndrome
Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Dou... OMIM:179613
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia OMIM:620152
Autoinflammation With Arthritis And Dyskeratosis
Splenomegaly, Autoimmune hemolytic anemia, Hypereosinophilia, Elevated circulating C-reactive pro... OMIM:617388
Progressive Familial Intrahepatic Cholestasis
Splenomegaly, Hypocalcemia ORPHA:172
Diabetic Embryopathy
Ventricular septal defect, Tetralogy of Fallot, Abnormal aortic morphology, Transposition of the ... ORPHA:1926
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Truncus arteriosus, Ventricular septal defect OMIM:601355
Phace Association
Anomalous branches of internal carotid artery, Ventricular septal defect, Patent ductus arteriosu... OMIM:606519
Refractory Celiac Disease
Normocytic anemia, Macrocytic anemia, Microcytic anemia, Hypomagnesemia, Increased proportion of ... ORPHA:398063
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophilia, Hepatosp... ORPHA:331206
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Alopecia, Hyperpigmentation of the skin, Hypokalemia, Hypocalcemia, Nail dysplasia, Hypomagnesemi... OMIM:175500
Idiopathic Acute Eosinophilic Pneumonia
Abnormal eosinophil morphology ORPHA:724
Uremic Pruritus
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen ORPHA:94059
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased proportion of CD3-positive T cells, Lymphopenia, Eosinophilia, Hepatosplenomegaly ORPHA:169160
Chromosome 6Q24-Q25 Deletion Syndrome
Patent ductus arteriosus, Dysplastic tricuspid valve, Mitral valve prolapse, Right ventricular di... OMIM:612863
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia OMIM:601198
Rhizomelic Syndrome
Pulmonic stenosis OMIM:268250
O'Sullivan-Mcleod Syndrome
Eosinophilia ORPHA:99965
Short Stature, Developmental Delay, And Congenital Heart Defects
Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect OMIM:617044
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia OMIM:145001
Hyperparathyroidism, Neonatal Severe
Calcinosis, Hypercalcemia, Splenomegaly, Hypophosphatemia, Anemia OMIM:239200
Hypophosphatasia, Infantile
Elevated plasma pyrophosphate, Hypercalcemia, Anemia OMIM:241500
Structural Heart Defects And Renal Anomalies Syndrome
Ventricular septal defect, Partial anomalous pulmonary venous return, Right aortic arch, Interrup... OMIM:617478
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue irides, Red hair, Hypopig... OMIM:203200
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypercalcemia OMIM:145980
Noonan Syndrome 11
Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis OMIM:618499
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Atrial septal defect, Aortic root aneurysm, Ventricular septal defect OMIM:301039
Hypoparathyroidism, Familial Isolated, 1
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:146200
Meacham Syndrome
Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Patent duct... OMIM:608978
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilia, Hepatosplenomegaly OMIM:618999
Lessel-Kreienkamp Syndrome
Bicuspid aortic valve, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Patent ... OMIM:619149
Igg4-Related Aortitis
Hypereosinophilia, Elevated circulating C-reactive protein concentration ORPHA:449400
Sarcosinemia
Hypertrophic cardiomyopathy, Pulmonic stenosis ORPHA:3129
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Hypopigmentation of hair, Generalized hyperpigmentation ORPHA:1355
Alagille Syndrome 2
Atrial septal defect, Tetralogy of Fallot, Pulmonic stenosis, Peripheral pulmonary artery stenosis OMIM:610205
Vitamin D-Dependent Rickets, Type 3
Hypocalcemia, Hypophosphatemia OMIM:619073
Skraban-Deardorff Syndrome
Right aortic arch, Ventricular septal defect OMIM:617616
Oculocutaneous Albinism, Type Viii
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:619165
Non-Functioning Paraganglioma
Hypercalcemia ORPHA:94080
Waardenburg Syndrome Type 2
Hypopigmentation of hair, Hypopigmented skin patches, Premature graying of hair, White forelock, ... ORPHA:895
Mucoepithelial Dysplasia, Hereditary
Alopecia, Eosinophilia, Coarse hair, Nail dystrophy, Nail dysplasia, Sparse hair, Chronic monilia... OMIM:158310
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta
Coarctation of abdominal aorta, Cardiomyopathy, Endocardial fibroelastosis OMIM:226100
Chromosome 18Q Deletion Syndrome
Absence of the pulmonary valve, Ventricular septal defect, Patent ductus arteriosus, Ascending tu... OMIM:601808
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Decreased proportion of CD4-positive helper T cells, Reduced natural killer cell count, Eosinophilia OMIM:243700
Chronic Atrial And Intestinal Dysrhythmia
Bicuspid aortic valve, Left atrial enlargement, Pulmonic stenosis OMIM:616201
Hypermethioninemia Due To Adenosine Kinase Deficiency
Secundum atrial septal defect, Pulmonic stenosis, Coarctation of aorta OMIM:614300
Acute Generalized Exanthematous Pustulosis
Neutrophilia, Eosinophilia, Leukocytosis, Neutropenia, Hyperpigmentation of the skin ORPHA:293173
Boudin-Mortier Syndrome
Aortic root aneurysm, Mitral valve prolapse OMIM:619543
Acute Adrenal Insufficiency
Hyponatremia, Normocytic anemia, Hypercalcemia, Sparse axillary hair, Hyperkalemia, Increased cir... ORPHA:95409
Catel-Manzke Syndrome
Overriding aorta, Ventricular septal defect, Dextrocardia, Coarctation of aorta OMIM:616145
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Hypercalcemia OMIM:145981
Noonan Syndrome 8
Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Hyp... OMIM:615355
Coronary Arterial Fistula
Bicuspid aortic valve, Cardiomegaly, Patent ductus arteriosus, Coronary artery aneurysm, Abnormal... ORPHA:2041
Monosomy 18Q
Absence of the pulmonary valve, Secundum atrial septal defect, Left aortic arch with right descen... ORPHA:1600
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Multiple muscular ventricular septal defects, Pulmonic stenosis OMIM:615508
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hyperphosphatemia, Hypercalcemia OMIM:617994
Pseudohypoparathyroidism Type 2
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures ORPHA:94090
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia OMIM:612089
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Holoprosencephaly, Anophthalmia, Bilateral microphthalmos OMIM:611638
Isotretinoin-Like Syndrome
Bicuspid aortic valve, Patent ductus arteriosus, Abnormal cardiac ventricle morphology, Abnormal ... ORPHA:2306
Phaver Syndrome
Pulmonary artery atresia, Hypoplastic aortic arch, Ventricular septal defect, Coarctation of aorta ORPHA:2876
Weill-Marchesani Syndrome 3
Aortic valve stenosis, Pulmonic stenosis OMIM:614819
Microphthalmia, Isolated, With Coloboma 6
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Fryns Microphthalmia Syndrome
Microphthalmia, Neural tube defect, Anophthalmia OMIM:600776
Meacham Syndrome
Ventricular septal defect, Situs inversus totalis, Patent ductus arteriosus, Anomalous pulmonary ... ORPHA:3097
2P21 Microdeletion Syndrome
Long eyelashes, Hypocalcemia ORPHA:163693
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia, Micrognathia OMIM:616570
Glucose-Galactose Malabsorption
Hypernatremia, Hypercalcemia ORPHA:35710
Cardiomyopathy, Familial Restrictive, 6
Restrictive cardiomyopathy, Pulmonic stenosis OMIM:619433
Apert Syndrome
Overriding aorta, Ventricular septal defect OMIM:101200
Hereditary Folate Malabsorption
Pancytopenia, Eosinophilia, Thrombocytopenia, Megaloblastic anemia ORPHA:90045
Dilated Cardiomyopathy With Ataxia
Muscular ventricular septal defect, Dilated cardiomyopathy ORPHA:66634
Cardiofaciocutaneous Syndrome 3
Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis OMIM:615279
Polyvalvular Heart Disease Syndrome
Aortic valve stenosis, Abnormal heart valve morphology, Pulmonic stenosis, Mitral valve prolapse ORPHA:228410
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Truncus arteriosus, Bicuspid aortic valve, Ventricular septal defect, Coarctation of aorta, Perim... ORPHA:508498
Hereditary Arterial And Articular Multiple Calcification Syndrome
Abnormal vascular morphology, Arterial calcification, Coronary artery calcification, Arterial tor... ORPHA:289601
Tangier Disease
Accelerated atherosclerosis, Coronary artery stenosis, Left ventricular hypertrophy, Carotid arte... ORPHA:31150
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation
Ventricular septal defect OMIM:209770
Griscelli Syndrome Type 1
Partial albinism, Hyperlipidemia, White hair, Premature graying of hair, Iris hypopigmentation ORPHA:79476
Pseudohypoparathyroidism, Type Ib
Hyperphosphatemia, Hypocalcemia OMIM:603233
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Muscular ventricular septal defect OMIM:619227
Elejalde Neuroectodermal Melanolysosomal Syndrome
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan... OMIM:256710
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism ORPHA:2786
Allergic Bronchopulmonary Aspergillosis
Abnormal eosinophil morphology, Abnormal fingernail morphology ORPHA:1164
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Overriding aorta, Tetralogy of Fallot ORPHA:3186
Yuan-Harel-Lupski Syndrome
Ventricular septal defect, Aortic root aneurysm, Bicuspid aortic valve, Double outlet right ventr... OMIM:616652
Bartsocas-Papas Syndrome 2
Microphthalmia, Wide anterior fontanel, Micrognathia OMIM:619339
Woolly Hair Nevus
Curly hair, Patchy hypopigmentation of hair, Fine hair, Woolly scalp hair, Congenital posterior o... ORPHA:79414
Piebald Trait-Neurologic Defects Syndrome
Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelash morphology, Hypopigmented... ORPHA:2885
Neuroectodermal Melanolysosomal Disease
Premature graying of hair, Hypopigmentation of hair, Generalized hyperpigmentation, Hypopigmentat... ORPHA:33445
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Bicuspid aortic valve, Parachute mitral valve, Atrial septal defect, Atrioventricular canal defec... OMIM:265380
Multifocal Atrial Tachycardia
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy, ... ORPHA:3282
Craniotelencephalic Dysplasia
Microphthalmia, Septo-optic dysplasia, Frontal encephalocele, Hydrocephalus ORPHA:1528
Combined Immunodeficiency Due To Zap70 Deficiency
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T... ORPHA:911
Branchial Arch Syndrome, X-Linked
Pulmonic stenosis OMIM:301950
Autosomal Dominant Hyper-Ige Syndrome
Abnormal hair morphology, Paronychia, Dystrophic fingernails, Eosinophilia ORPHA:2314
Neural Tube Defects, Susceptibility To
Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly OMIM:182940
Heterotaxy, Visceral, 1, X-Linked
Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, Atrioventricular c... OMIM:306955
Paternal Uniparental Disomy Of Chromosome 1
Episodic hemolytic anemia, Hypercalcemia, Increased blood urea nitrogen ORPHA:251004
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Microphthalmia, Proptosis, Micrognathia OMIM:616171
Oculocutaneous Albinism Type 3
White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener... ORPHA:79433
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Alopecia, Hypopigmented skin patches, Anemia, Hypocalcemia... ORPHA:47
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Ventricular septal defect OMIM:235750
Primary Triglyceride Deposit Cardiomyovasculopathy
Abnormal cardiomyocyte morphology, Cardiomyopathy, Renal artery atherosclerosis, Coronary artery ... ORPHA:565612
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia OMIM:251505
Pgm3-Cdg
Hemolytic anemia, Abnormal proportion of CD8-positive T cells, Eosinophilia, Abnormal CD4:CD8 rat... ORPHA:443811
Alg12-Cdg
Biventricular hypertrophy, Patent ductus arteriosus, Patent foramen ovale, Muscular ventricular s... ORPHA:79324
22Q11.2 Duplication Syndrome
Ventricular septal defect, Hypoplastic left heart, Transposition of the great arteries, Interrupt... ORPHA:1727
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Hartsfield Syndrome
Encephalocele, Microphthalmia, Lobar holoprosencephaly, Hypertelorism ORPHA:2117
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Ventricular septal defect, Patent ductus arteriosus, Mitral valve prolap... OMIM:612561
Loeys-Dietz Syndrome 4
Bicuspid aortic valve, Arterial tortuosity, Mitral valve prolapse, Ascending tubular aorta aneury... OMIM:614816
Microcephaly-Microcornea Syndrome, Seemanova Type
Microphthalmia, Retrognathia ORPHA:2528
Multisystemic Smooth Muscle Dysfunction Syndrome
Aortic arch aneurysm, Thoracic aortic aneurysm, Brachiocephalic artery aneurysm, Patent ductus ar... OMIM:613834
Tetrasomy 15Q26
Atrial septal defect, Patent ductus arteriosus, Hypoplastic aortic arch OMIM:614846
Generalized Pustular Psoriasis
Hyponatremia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hypoalbuminemi... ORPHA:247353
Autosomal Dominant Hypophosphatemic Rickets
Iron deficiency anemia, Tooth abscess, Hypocalcemia, Hypophosphatemia ORPHA:89937
Cardiospondylocarpofacial Syndrome
Ventricular septal defect, Muscular ventricular septal defect, Hypoplastic aortic arch, Dysplasti... OMIM:157800
Microphthalmia, Syndromic 9
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left atriu... OMIM:601186
Cap Myopathy
Aortic root aneurysm, Mitral valve prolapse ORPHA:171881
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Microphthalmia, Occipital encephalocele, Hydrocephalus ORPHA:324416
Neurofibromatosis-Noonan Syndrome
Hypertrophic cardiomyopathy, Pulmonic stenosis ORPHA:638
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Muscular ventricular septal defect OMIM:618569
Colchicine Poisoning
Hyponatremia, Alopecia, Leukocytosis, Abnormal blood ion concentration, Hypophosphatemia, Hypokal... ORPHA:31824
Incontinentia Pigmenti
Alopecia, Abnormal fingernail morphology, Eosinophilia, Supernumerary nipple, Abnormal hair morph... ORPHA:464
Loeys-Dietz Syndrome 1
Atrial septal defect, Bicuspid aortic valve, Arterial tortuosity, Descending thoracic aorta aneur... OMIM:609192
Waardenburg-Shah Syndrome
Abnormality of retinal pigmentation, Hypopigmentation of hair, Abnormal eyebrow morphology, White... ORPHA:897
Inflammatory Skin And Bowel Disease, Neonatal, 2
Coarctation of aorta OMIM:616069
Mullegama-Klein-Martinez Syndrome
Hypoplastic left heart, Apical muscular ventricular septal defect, Coarctation of aorta OMIM:301022
Mmep Syndrome
Mandibular prognathia, Microphthalmia ORPHA:3434
Addison Disease
Hyponatremia, Normocytic anemia, Hypercalcemia, Sparse axillary hair, Thiamine-responsive megalob... ORPHA:85138
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Atrial septal defect, Ventricular septal defect, Vascular ring OMIM:603387
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Noonan Syndrome 10
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Mitral valve prolapse,... OMIM:616564
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Hypercalcemia, Hypophosphatemia OMIM:600740
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia ORPHA:2432
Griscelli Syndrome
Abnormal eyebrow morphology, Abnormality of neutrophils, Abnormal eyelash morphology, Splenomegal... ORPHA:381
Noonan Syndrome 2
Abnormal coronary artery origin, Mitral stenosis, Ventricular septal defect, Patent ductus arteri... OMIM:605275
Nanophthalmos
Microphthalmia ORPHA:35612
Loeys-Dietz Syndrome 6
Ventricular hypertrophy, Carotid artery dissection, Thoracic aortic aneurysm, Varicose veins, Dil... OMIM:619656
Lmna-Related Cardiocutaneous Progeria Syndrome
Ventricular hypertrophy, Mitral valve calcification, Intracranial hemorrhage, Aortic root aneurys... ORPHA:363618
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Mitral atresia, Patent ductus arteriosus, Double outlet right ventricle, Coarctation of aorta, Su... OMIM:618164
Aspergillosis
Eosinophilia, Neutropenia ORPHA:1163
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Ventricular septal defect, Dysplastic pulmonary valve OMIM:619103
Aortic Arch Interruption
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Aortic valve atresia,... ORPHA:2299
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Bicuspid aortic valve, Patent ductus arteriosus, Muscular ventricular septal defect, Coarctation ... OMIM:612474
Hermansky-Pudlak Syndrome 3
Hypopigmentation of hair, Hypopigmentation of the skin, Abnormal number of dense granules, Albinism OMIM:614072
Frontonasal Dysplasia 1
Hypertelorism, Hypoplasia of the maxilla, Anterior basal encephalocele, Cranium bifidum occultum,... OMIM:136760
Congenital Disorder Of Glycosylation, Type Iie
Secundum atrial septal defect, Perimembranous ventricular septal defect OMIM:608779
8P23.1 Microdeletion Syndrome
Pulmonary artery stenosis, Patent ductus arteriosus, Hypertrophic cardiomyopathy, Abnormal aortic... ORPHA:251071
Heterotaxy, Visceral, 5, Autosomal
Atrial septal defect, Right atrial isomerism, Ventricular septal defect, Dextrocardia, Patent duc... OMIM:270100
Waardenburg Syndrome, Type 4A
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... OMIM:277580
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Ventricular septal defect, Absent pulmonary artery, Patent ductus arteriosus, Coarctation of aort... OMIM:600460
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Cerebral hemorrhage, Dilated cardiomyopathy, Abnormal left ventricle morphology, Premature corona... OMIM:300845
Cystic Echinococcosis
Eosinophilia, Abscess, Hyperbilirubinemia, Splenic cyst, Peritoneal abscess ORPHA:400
Renal-Hepatic-Pancreatic Dysplasia 2
Truncus arteriosus, Situs inversus totalis, Aortic valve stenosis, Pulmonic stenosis, Hypertrophi... OMIM:615415
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
46,Xx Sex Reversal 5
Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect OMIM:618901
Halperin-Birk Syndrome
Perimembranous ventricular septal defect OMIM:618651
Immunodeficiency 89 And Autoimmunity
Decreased eosinophil count, Hypochromic microcytic anemia, Elevated circulating C-reactive protei... OMIM:619632
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia OMIM:179800
Arterial Calcification, Generalized, Of Infancy, 1
Coronary artery calcification, Cardiomegaly, Carotid artery calcification, Dilated cardiomyopathy... OMIM:208000
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10
Descending aortic dissection, Ascending aortic dissection OMIM:620080
Metaphyseal Chondrodysplasia, Jansen Type
Hypercalcemia, Hypophosphatemia OMIM:156400
Methionine Malabsorption Syndrome
White hair, Blue irides, Positive ferric chloride test OMIM:250900
Intermediate Osteopetrosis
Thrombocytopenia, Hypocalcemia, Anemia, Hepatosplenomegaly ORPHA:210110
2Q24 Microdeletion Syndrome
Microphthalmia, Hypertelorism ORPHA:1617
Multiple Myeloma
Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Hyperproteinemia, Anemia ORPHA:29073
Immunodeficiency 23
Hemolytic anemia, Eosinophilia, Abscess, Neutropenia, Lymphopenia OMIM:615816
Loeffler Endocarditis
Eosinophilia ORPHA:75566
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Temple-Baraitser Syndrome
Atrial septal defect, Pulmonic stenosis OMIM:611816
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Ventricular septal defect, Abnormal heart morphology, Persistent left superior vena cava, Coarcta... OMIM:618494
Contractural Arachnodactyly, Congenital
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Mitral valve prolapse... OMIM:121050
Ritscher-Schinzel Syndrome 3
Microphthalmia, Wide anterior fontanel, Micrognathia, Hypertelorism OMIM:619135
Paget Disease Of Bone 2, Early-Onset
Hypercalcemia OMIM:602080
Otosclerosis 8
Otosclerosis OMIM:612096
Otosclerosis 3
Otosclerosis OMIM:608244
Monosomy 13Q34
Horizontal eyebrow, Hypercalcemia ORPHA:96168
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Perimembranous ventricular septal defect, Ventricular septal defect OMIM:301040
Microphthalmia, Syndromic 12
Microphthalmia, Anophthalmia, Retrognathia, Micrognathia OMIM:615524
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Atrial septal defect, Pulmonic stenosis OMIM:619239
Serkal Syndrome
Ventricular septal defect, Pulmonic stenosis ORPHA:139466
Thymic Neuroendocrine Tumor
Hypercalcemia ORPHA:97289
Pheochromocytoma
Cafe-au-lait spot, Hypercalcemia OMIM:171300
Loeys-Dietz Syndrome 2
Aortic arch aneurysm, Atrial septal defect, Bicuspid aortic valve, Arterial tortuosity, Descendin... OMIM:610168
Iga Pemphigus
Eosinophilia, Cutaneous abscess ORPHA:555905
Congenital Aortic Valve Stenosis
Thoracic aortic aneurysm, Aortic valve calcification, Aortic valve atresia, Endocarditis, Endocar... ORPHA:3093
Primary Intestinal Lymphangiectasia
Reduced proportion of CD4+ effector memory T cells, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia... ORPHA:90362
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Microphthalmia, Wide anterior fontanel, Micrognathia, Hypertelorism ORPHA:163649
Craniofaciofrontodigital Syndrome
Prominent superficial veins, Anomalous branches of internal carotid artery, Bicuspid aortic valve... ORPHA:363705
Distal Deletion 19P
Pulmonary valve atresia, Ventricular septal defect, Tricuspid valve prolapse ORPHA:96129
Teebi Hypertelorism Syndrome 1
Atrial septal defect, Aortic root aneurysm, Ventricular septal defect OMIM:145420
Transaldolase Deficiency
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Atrial septal defect, ... OMIM:606003
Hydrolethalus
Anophthalmia, Micrognathia, Hydrocephalus, Anencephaly, Deeply set eye, Microphthalmia, Retrognathia ORPHA:2189
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Myofibrillar Myopathy 11
Coarctation of aorta OMIM:619178
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of the thymus, Eosinophilia, Autoi... OMIM:102700
Nanophthalmos 4
Microphthalmia OMIM:615972
Waardenburg Syndrome Type 1
Hypopigmentation of hair, White eyelashes, White eyebrow, Abnormal hair morphology, Synophrys, Wh... ORPHA:894
Frontoocular Syndrome
Atrial septal defect, Pulmonic stenosis OMIM:605321
Piebaldism
Hypopigmentation of hair, White eyelashes, White eyebrow, Synophrys, Piebaldism, Hypopigmented sk... ORPHA:2884
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Ventricular septal defect, Bicuspid aortic valve, Coarctation of aorta, Mitral valve prolapse, At... ORPHA:371428
Rubinstein-Taybi Syndrome 1
Ventricular septal defect, Patent foramen ovale, Patent ductus arteriosus, Vascular ring, Coarcta... OMIM:180849
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Synophrys, Hypercalcemia ORPHA:476126
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemic tetany, Hypocalcemia, Hypocalcemic seizures ORPHA:93324
Ogden Syndrome
Bicuspid aortic valve, Left atrial enlargement, Ventricular septal defect, Cardiomegaly, Secundum... OMIM:300855
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Pulmonary arteriovenous malformation, Cerebral arteriovenous malformation, Mitral valve prolapse,... OMIM:175050
Maternal Phenylketonuria
Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Hypoplastic left hear... ORPHA:2209
3P25.3 Microdeletion Syndrome
Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Cor... ORPHA:435638
Oculocerebrocutaneous Syndrome
Microphthalmia, Orbital encephalocele, Anophthalmia OMIM:164180
Pierpont Syndrome
Microphthalmia, Deeply set eye, Hypertelorism ORPHA:487825
Meckel Syndrome, Type 8
Encephalocele, Occipital encephalocele, Anophthalmia, Microphthalmia OMIM:613885
Absence Of The Pulmonary Artery
Abnormal coronary artery morphology, Cardiomegaly, Patent ductus arteriosus, Coarctation of aorta... ORPHA:980
3C Syndrome
Ventricular septal defect, Abnormal mitral valve morphology, Abnormal tricuspid valve morphology,... ORPHA:7
Charge Syndrome
Atrial septal defect, Overriding aorta, Ventricular septal defect, Secundum atrial septal defect,... OMIM:214800
Albers-Schönberg Osteopetrosis
Abnormal leukocyte morphology, Hypocalcemia, Anemia ORPHA:53
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia, Hydrocephalus OMIM:614830
Cofs Syndrome
Microphthalmia, Micrognathia ORPHA:1466
Drug Reaction With Eosinophilia And Systemic Symptoms
Eosinophilia, Lymphocytosis ORPHA:139402
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Atrial septal defect, Patent ductus arteriosus, Coarctation of aorta OMIM:614857
Warburg Micro Syndrome 1
Microphthalmia, Deeply set eye, Micrognathia OMIM:600118
X-Linked Mandibulofacial Dysostosis
Abnormal mitral valve morphology, Abnormality of the pulmonary artery, Pulmonic stenosis ORPHA:1131
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome
Abnormal pulmonary valve morphology, Pulmonic stenosis ORPHA:137634
Autoimmune Hypoparathyroidism
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures ORPHA:36913
Septopreoptic Holoprosencephaly
Coarctation of aorta ORPHA:280195
Malignant Migrating Focal Seizures Of Infancy
Aortopulmonary collateral arteries ORPHA:293181
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Tetralogy of Fallot, Pat... OMIM:618748
Multiple Synostoses Syndrome 4
Otosclerosis OMIM:617898
Arterial Tortuosity Syndrome
Ventricular hypertrophy, Carotid artery dissection, Pulmonary artery stenosis, Aortic root aneury... OMIM:208050
Williams Syndrome
Aortic arch aneurysm, Abnormal endocardium morphology, Overriding aorta, Bicuspid aortic valve, V... ORPHA:904
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Lymphopenia, Eosinophilia OMIM:617425
Tyshchenko Syndrome
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis OMIM:615102
Oculocutaneous Albinism Type 4
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, White hair, Ocular albin... ORPHA:79435
Temtamy Syndrome
Microphthalmia, Micrognathia, Hypertelorism ORPHA:1777
Autoimmune Lymphoproliferative Syndrome
Reticulocytosis, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Hyperspl... ORPHA:3261
Fumarase Deficiency
Perimembranous ventricular septal defect OMIM:606812
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hypercalcemia ORPHA:276621
Tako-Tsubo Cardiomyopathy
Dilatation of the ventricular cavity, Coronary artery stenosis, Abnormal coronary artery morpholo... ORPHA:66529
Familial Hypocalciuric Hypercalcemia
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Hypocalcemic seizures ORPHA:405
Dahlberg-Borer-Newcomer Syndrome
Anonychia, Hypocalcemia, Generalized hirsutism ORPHA:1563
Xk Aprosencephaly Syndrome
Microphthalmia, Hypotelorism ORPHA:3469
Aneurysm Of Sinus Of Valsalva
Dilatation of the sinus of Valsalva, Stroke, Bacterial endocarditis ORPHA:1054
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Hypoplastic tricuspid valve, Double outlet left ventricle, Ventricular septal defect, Pulmonary a... ORPHA:2255
Kenny-Caffey Syndrome, Type 1
Hypocalcemia, Anemia, Hypomagnesemia OMIM:244460
Eosinophilic Granulomatosis With Polyangiitis
Hypopigmented skin patches, Eosinophilia ORPHA:183
Pierpont Syndrome
Microphthalmia, Deeply set eye, Hypertelorism OMIM:602342
Vogt-Koyanagi-Harada Disease
Abnormal eyebrow morphology, Sparse scalp hair, Poliosis, Abnormal eyelash morphology, Hypopigmen... ORPHA:3437
Cyclic Neutropenia
Cyclic neutropenia, Perianal abscess, Decreased eosinophil count, Lymphopenia, Tooth abscess, Thr... ORPHA:2686
Congenital Heart Defects And Skeletal Malformations Syndrome
Atrial septal defect, Aortic root aneurysm, Ventricular septal defect, Coarctation of aorta OMIM:617602
Microphthalmia, Isolated 4
Microphthalmia OMIM:613094
Sifrim-Hitz-Weiss Syndrome
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Atrial septal defect, ... OMIM:617159
Heart And Brain Malformation Syndrome
Microphthalmia, Wide anterior fontanel, Hypertelorism OMIM:616920
Acrocardiofacial Syndrome
Mitral stenosis, Ventricular septal defect, Coarctation of aorta, Atrial septal defect, Truncus a... ORPHA:2008
Craniorachischisis
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism ORPHA:63260
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Microphthalmia, Hydrocephalus, Hypertelorism OMIM:602501
Cat Eye Syndrome
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Total anomalous pulm... OMIM:115470
Lissencephaly 8
Microphthalmia, Occipital encephalocele OMIM:617255
Tatton-Brown-Rahman Syndrome
Atrial septal defect, Patent ductus arteriosus, Aortic root aneurysm ORPHA:404443
Ehlers-Danlos Syndrome, Classic Type, 1
Aortic root aneurysm, Mitral valve prolapse OMIM:130000
X Small Rings
Ventricular septal defect, Aortic root aneurysm, Mitral stenosis, Bicuspid aortic valve ORPHA:96201
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Alopecia, Hypopigmentation of hair ORPHA:1067
Fibrous Dysplasia Of Bone
Large cafe-au-lait macules with irregular margins, Multiple cafe-au-lait spots, Hypercalcemia, Hy... ORPHA:249
Cat-Eye Syndrome
Microphthalmia, Hypertelorism ORPHA:195
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... OMIM:620066
Van Esch-O'Driscoll Syndrome
Atrial septal defect, Pulmonary artery stenosis, Pulmonary valve atresia, Ventricular septal defect OMIM:301030
Phace Syndrome
Cerebral arteriovenous malformation, Coarctation of aorta, Abnormal heart morphology, Aortic root... ORPHA:42775
Legius Syndrome
Supravalvar pulmonary stenosis OMIM:611431
Congenital Pulmonary Lymphangiectasia
Pulmonic stenosis, Chylopericardium ORPHA:2414
Pseudopseudohypoparathyroidism
Hyperphosphatemia, Hypocalcemia ORPHA:79445
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Ventricular septal defect, Muscular ventricular septal defect, Coarctation of aorta, Atrial septa... OMIM:210710
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Autoimmune hemolytic anemia, Alopecia, Autoimmune thrombocytopenia, Splenomegaly, Neutropenia, Ab... ORPHA:37042
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
Foveal Hypoplasia 2
Hypoplasia of the fovea, Microphthalmia OMIM:609218
Otosclerosis 1
Otosclerosis OMIM:166800
Otosclerosis 7
Otosclerosis OMIM:611572
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Obesity And Hypopigmentation
Red hair OMIM:620195
Kagami-Ogata Syndrome
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Pulmonic stenosis OMIM:608149
Hypotonia-Cystinuria Syndrome
Long eyelashes, Hypocalcemia OMIM:606407
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Microphthalmia, Micrognathia, Hypertelorism ORPHA:93267
Ehlers-Danlos Syndrome, Classic-Like, 2
Aortic root aneurysm, Mitral valve prolapse, Prominent superficial veins, Carotid artery stenosis OMIM:618000
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia OMIM:274270
Biemond Syndrome Type 2
Microphthalmia, Hydrocephalus ORPHA:141333
Otodental Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Abnormal dental pulp morphology, Ca... ORPHA:2791
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia OMIM:610092
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Hypopigmentation of hair, Thrombocytopenia, Splenomega... OMIM:214500
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Hypertrophic cardiomyopathy, Pulmonic stenosis ORPHA:2701
Angiostrongyliasis
Hypereosinophilia ORPHA:74
Baraitser-Winter Syndrome 2
Microphthalmia, Retrognathia, Hypertelorism OMIM:614583
Bartter Syndrome, Type 1, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Hypochloremia, Hypokalemia, In... OMIM:601678
Fanconi Anemia, Complementation Group B
Patent ductus arteriosus, Ventricular septal defect, Coarctation of aorta OMIM:300514
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Ventricular septal defect, Mitral atresia, Ascending aorta hypoplasia, Muscular ventricular septa... OMIM:619503
Diaphragmatic Hernia 4, With Cardiovascular Defects
Ventricular septal defect, Aortopulmonary collateral arteries, Aortopulmonary window, Pulmonary a... OMIM:620025
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome
Varicose veins, Pulmonic stenosis, Vascular dilatation, Aortic dissection OMIM:618343
Emanuel Syndrome
Ventricular septal defect, Patent ductus arteriosus, Aortic valve stenosis, Pulmonic stenosis, At... OMIM:609029
Prader-Willi Syndrome Due To Imprinting Mutation
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:177910
Ataxia-Telangiectasia
Premature graying of hair, Hypopigmentation of hair, Lymphopenia, Multiple cafe-au-lait spots ORPHA:100
Pseudotrisomy 13 Syndrome
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Coarctation of a... OMIM:264480
Chime Syndrome
Pulmonary valve atresia, Tetralogy of Fallot, Ventricular septal defect, Transposition of the gre... ORPHA:3474
Autosomal Dominant Polycystic Kidney Disease
Dilatation of the cerebral artery, Aortic root aneurysm, Abnormal systemic arterial morphology, M... ORPHA:730
Robinow Syndrome
Ventricular septal defect, Coarctation of aorta, Abnormal heart morphology, Pulmonic stenosis, At... ORPHA:97360
Noonan Syndrome With Multiple Lentigines
Abnormal endocardium morphology, Abnormal pulmonary valve morphology, Mitral valve prolapse, Pulm... ORPHA:500
Cardiac-Valvular Ehlers-Danlos Syndrome
Abnormal heart valve morphology, Mitral valve prolapse, Aortic root aneurysm, Atrial septal defec... ORPHA:230851
Aprosencephaly Syndrome
Aprosencephaly, Anencephaly OMIM:207770
Multiple Endocrine Neoplasia, Type I
Cafe-au-lait spot, Hypercalcemia OMIM:131100
Velocardiofacial Syndrome
Ventricular septal defect, Interrupted aortic arch, Pulmonary artery atresia, Tetralogy of Fallot... OMIM:192430
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia OMIM:278780
Piebald Trait
Absent pigmentation of the ventral chest, Partial albinism, Piebaldism, White forelock, Heterochr... OMIM:172800
Autosomal Dominant Hypocalcemia
Alopecia, Abnormal fingernail morphology, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Irregu... ORPHA:428
Igg4-Related Pachymeningitis
Eosinophilia, Elevated circulating C-reactive protein concentration ORPHA:449427
Hoyeraal-Hreidarsson Syndrome
Abnormal leukocyte morphology, Sparse scalp hair, Generalized hyperpigmentation, Premature grayin... ORPHA:3322
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Arterial Tortuosity Syndrome
Myocarditis, Pulmonary artery stenosis, Dilated cardiomyopathy, Arterial stenosis, Aortic root an... ORPHA:3342
20Q13.33 Microdeletion Syndrome
Atrial septal defect, Dilation of Virchow-Robin spaces, Hypoplastic aortic arch, Abnormal cardiac... ORPHA:261311
Otosclerosis 10
Otosclerosis OMIM:615589
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Atrioventricular canal defect, Dextrocardia, Coarctation of aorta OMIM:618929
Cardiac-Urogenital Syndrome
Atrial septal defect, Cor triatrium sinister, Ventricular septal defect, Dextrocardia, Coronary s... OMIM:618280
Kallmann Syndrome-Heart Disease Syndrome
Anomalous origin of left coronary artery from the pulmonary artery, Dilated cardiomyopathy, Right... ORPHA:2326
Marden-Walker Syndrome
Microphthalmia, Wide anterior fontanel, Micrognathia, Hypertelorism OMIM:248700
Genetic Recurrent Myoglobinuria
Highly elevated creatine kinase, Hyperphosphatemia, Hyperkalemia, Hypocalcemia ORPHA:99845
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Aortic root aneurysm, Mitral valve prolapse ORPHA:449291
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypertriglyceridemia, Hypercalcemia ORPHA:369837
Hereditary Pheochromocytoma-Paraganglioma
Hypercalcemia ORPHA:29072
You-Hoover-Fong Syndrome
Coarctation of aorta, Double aortic arch, Vascular ring OMIM:616954
Neuroleptic Malignant Syndrome
Hyponatremia, Elevated circulating creatine kinase concentration, Leukocytosis, Hyperkalemia, Hyp... ORPHA:94093
Frontofacionasal Dysplasia
Cranium bifidum occultum, Microphthalmia, Hypoplasia of the frontal bone, Hypertelorism OMIM:229400
Cardiofaciocutaneous Syndrome 4
Ventricular septal hypertrophy, Abnormal aortic valve morphology, Pulmonic stenosis OMIM:615280
Mosaic Trisomy 16
Ventricular septal defect, Patent ductus arteriosus, Abnormal heart morphology, Coarctation of ao... ORPHA:1708
Cerebrooculofacioskeletal Syndrome 1
Delayed eruption of teeth, Micrognathia, Carious teeth, Deeply set eye, Microphthalmia OMIM:214150
Pseudohypoparathyroidism, Type Ic
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia OMIM:612462
Ring Chromosome 10 Syndrome
Hypocalcemia ORPHA:1438
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased proportion of CD8-positive T cells, Hypereosinophilia, T lymphocytopenia, Decreased pro... ORPHA:508533
Meester-Loeys Syndrome
Mitral valve prolapse, Ascending tubular aorta aneurysm, Aortic root aneurysm, Dilatation of the ... OMIM:300989
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Cardiomegaly, Pu... ORPHA:99125
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Hypertelorism, Hypoplasia of the maxilla, Cranium bifidum occultum, Microphthalmia, Hypoplasia of... ORPHA:306542
Meckel Syndrome, Type 4
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Microphthalmia OMIM:611134
Alg3-Cdg
Cardiomyopathy, Coarctation of the descending aortic arch ORPHA:79321
Osteopetrosis, Autosomal Recessive 1
Pancytopenia, Splenomegaly, Anemia, Hypocalcemia, Thrombocytopenia OMIM:259700
Hypocalcemic Vitamin D-Resistant Rickets
Alopecia, Hypocalcemia, Hypophosphatemia ORPHA:93160
Meckel Syndrome, Type 2
Encephalocele, Microphthalmia, Meningocele, Anencephaly OMIM:603194
Adams-Oliver Syndrome 2
Microphthalmia, Hydrocephalus, Micrognathia, Hypertelorism OMIM:614219
Otosclerosis 4
Otosclerosis OMIM:611571
Kabuki Syndrome 2
Atrial septal defect, Atrioventricular canal defect, Pulmonic stenosis, Coarctation of aorta OMIM:300867
Oculocutaneous Albinism Type 2
Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab... ORPHA:79432
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Microphthalmia, Micrognathia ORPHA:48431
Meckel Syndrome, Type 5
Microphthalmia, Occipital encephalocele, Anencephaly OMIM:611561
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic aortic arch, Coarctation of aort... OMIM:617506
Familial Isolated Hypoparathyroidism
Hypocalcemia ORPHA:2238
Facial Clefting, Oblique, 1
Microphthalmia OMIM:600251
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Pulmonary artery atresia, Double outlet right ventricle, Ventricular septal defect, Pulmonic sten... OMIM:301056
Hypophosphatemic Rickets, Autosomal Recessive, 2
Pulmonic stenosis OMIM:613312
Frontorhiny
Encephalocele, Hypertelorism, Hypoplasia of the maxilla, Basal encephalocele, Cranium bifidum occ... ORPHA:391474
Alveolar Echinococcosis
Liver abscess, Eosinophilia, Abnormal spleen morphology, Anemia, Cutaneous abscess ORPHA:284
Kleefstra Syndrome Due To 9Q34 Microdeletion
Conotruncal defect, Coarctation of aorta, Abnormal cardiac septum morphology, Aortic valve stenos... ORPHA:96147
Bacterial Toxic-Shock Syndrome
Elevated circulating creatine kinase concentration, Abscess, Elevated circulating creatinine conc... ORPHA:36234
Acquired Hypertrichosis Lanuginosa
Abnormal eyebrow morphology, Hypopigmentation of hair, Generalized hirsutism, Fine hair ORPHA:2221
Oculocutaneous Albinism Type 1
White eyelashes, Iris hypopigmentation, White eyebrow, Blue irides, Iris transillumination defect... ORPHA:352731
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia, Hypertelorism ORPHA:1135
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Microphthalmia OMIM:120433
Sarcoidosis
Hemolytic anemia, Alopecia, Hyperpigmentation of the skin, Hypercalcemia, Eosinophilia, Thrombocy... ORPHA:797
Piebald Trait With Neurologic Defects
White forelock, Absent pigmentation of the ventral chest OMIM:172850
Noonan Syndrome 3
Ventricular septal defect, Patent ductus arteriosus, Mitral valve prolapse, Pulmonic stenosis, Tr... OMIM:609942
Developmental Delay, Language Impairment, And Ocular Abnormalities
Pulmonic stenosis OMIM:620141
Wiskott-Aldrich Syndrome
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... OMIM:301000
Carpenter Syndrome 1
Ventricular septal defect, Patent ductus arteriosus, Transposition of the great arteries, Pulmoni... OMIM:201000
Rhizomelic Syndrome, Urbach Type
Pulmonic stenosis ORPHA:3098
Linear Skin Defects With Multiple Congenital Anomalies 2
Microphthalmia, Hypertelorism OMIM:300887
Ciliary Dyskinesia, Primary, 20
Atrial situs inversus, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Pulmonary... OMIM:615067
Developmental Delay With Variable Neurologic And Brain Abnormalities
Microphthalmia, Micrognathia OMIM:619694
Joubert Syndrome 14
Encephalocele, Hypertelorism, Hydrocephalus, Meningocele, Deeply set eye, Microphthalmia OMIM:614424
Idiopathic Hypereosinophilic Syndrome
Neutrophilia, Eosinophilia, Thrombocytopenia, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Mye... ORPHA:3260
Congenital Toxoplasmosis
Microphthalmia, Hydrocephalus ORPHA:858
Cataract 9, Multiple Types
Microphthalmia OMIM:604219
Dyskeratosis Congenita, Autosomal Dominant 2
Pancytopenia, Aplastic anemia, Reticulated skin pigmentation, Premature graying of hair, Leukopen... OMIM:613989
Squalene Synthase Deficiency
Increased circulating farnesol concentration, Abnormality of hair pigmentation, Decreased LDL cho... OMIM:618156
Koolen-De Vries Syndrome
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Aortic root aneurysm,... OMIM:610443
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Encephalocele, Microphthalmia, Hypertelorism ORPHA:228390
Congenital Varicella Syndrome
Microphthalmia ORPHA:291
Emanuel Syndrome
Ventricular septal defect, Patent ductus arteriosus, Aortic valve stenosis, Pulmonic stenosis, At... ORPHA:96170
Cerebrooculofacioskeletal Syndrome 2
Microphthalmia, Deeply set eye, Micrognathia OMIM:610756
Microphthalmia, Isolated 5
Microphthalmia OMIM:611040
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Dilated cardiomyopathy, Myocardial fibrosis, Transposition of the great arteries, Pulmonic stenos... OMIM:253800
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Microphthalmia, Hydrocephalus OMIM:613155
Chédiak-Higashi Syndrome
Large clumps of pigment irregularly distributed along hair shaft, Vacuolated lymphocytes, Neutrop... ORPHA:167
Adams-Oliver Syndrome 5
Right ventricular hypertrophy, Patent foramen ovale, Pulmonic stenosis, Right atrial enlargement OMIM:616028
Vipoma
Hypokalemia, Hypercalcemia, Normochromic anemia ORPHA:97282
Celiac Disease, Susceptibility To, 1
Alopecia, Macrocytic anemia, Iron deficiency anemia, Hypocalcemia, Thrombocytosis OMIM:212750
Congenital Tracheomalacia
Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Partial anomalous pulmonary ve... ORPHA:95430
Noonan Syndrome 5
Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis OMIM:611553
Microphthalmia, Syndromic 13
Microphthalmia OMIM:300915
Microphthalmia, Syndromic 8
Mandibular prognathia, Microphthalmia OMIM:601349
Cardiofacioneurodevelopmental Syndrome
Atrioventricular canal defect, Ventricular septal defect, Pulmonic stenosis OMIM:619123
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Mandibular prognathia, Micrognathia, Lens coloboma, Umbilical hernia, Microphthalmia, Retrognathia OMIM:618914
Adams-Oliver Syndrome 1
Bicuspid aortic valve, Ventricular septal defect, Pulmonary artery stenosis, Hypoplastic left hea... OMIM:100300
Mosaic Variegated Aneuploidy Syndrome 2
Atrial septal defect, Ventricular septal defect, Subvalvular aortic stenosis, Coarctation of aorta OMIM:614114
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Encephalocele, Proptosis, Exencephaly, Hypertelorism ORPHA:2211
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia OMIM:610023
Gracile Bone Dysplasia
Asplenia, Hypoplastic spleen, Hypocalcemia OMIM:602361
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:411515
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Splenomegaly, Hypoproteinemia, Hypocalcemia, Hypertrichosis OMIM:235255
Osteopetrosis, Autosomal Recessive 5
Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Leukocytosis, Splenomegaly, Hypochr... OMIM:259720
Oculocutaneous Albinism Type 1B
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, Melanocytic nevus, Freck... ORPHA:79434
Toriello-Carey Syndrome
Patent ductus arteriosus, Coarctation of aorta, Cardiomyopathy, Abnormal cardiac septum morpholog... ORPHA:3338
Wrinkly Skin Syndrome
Muscular ventricular septal defect, Atrial septal dilatation OMIM:278250
Distal Triplication 15Q
Atrial septal defect, Patent ductus arteriosus, Hypoplastic aortic arch, Abnormal heart morphology ORPHA:314588
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Aortic valve stenosis, Pulmonic stenosis ORPHA:75496
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia OMIM:267760
Nasopalpebral Lipoma-Coloboma Syndrome
Hypoplasia of the maxilla, Microphthalmia, Hypertelorism OMIM:167730
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Hypocalcemia, Hypophosphatemia OMIM:600081
Temtamy Syndrome
Microphthalmia, Micrognathia, Hypoplasia of teeth, Hypertelorism OMIM:218340
Acquired Von Willebrand Syndrome
Intracranial hemorrhage, Aortic valve stenosis, Pulmonic stenosis, Gastrointestinal angiodysplasia ORPHA:99147
Weill-Marchesani Syndrome 1
Ventricular septal defect, Patent ductus arteriosus, Aortic valve stenosis, Pulmonic stenosis OMIM:277600
Homozygous Familial Hypercholesterolemia
Precocious atherosclerosis, Abnormal internal carotid artery morphology, Peripheral arterial sten... ORPHA:391665
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
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:241410
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Microphthalmia, Hydrocephalus, Optic nerve hypoplasia OMIM:615181
Loeys-Dietz Syndrome 5
Ventricular septal defect, Aortic root aneurysm, Ascending aortic dissection, Atrial septal defec... OMIM:615582
Solitary Median Maxillary Central Incisor
Anophthalmia, Hypotelorism, Holoprosencephaly, Microphthalmia, Cyclopia OMIM:147250
Encephalocraniocutaneous Lipomatosis
Coarctation of aorta, Abnormal aortic morphology, Tricuspid valve prolapse, Interrupted aortic ar... ORPHA:2396
Histiocytosis-Lymphadenopathy Plus Syndrome
Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Mitral valve prolapse, Varicos... OMIM:602782
Noonan Syndrome 6
Hypertrophic cardiomyopathy, Pulmonic stenosis OMIM:613224
Somatostatinoma
Hypercalcemia, Hypochromic microcytic anemia ORPHA:97283
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia OMIM:264700
Fanconi Anemia, Complementation Group G
Microphthalmia OMIM:614082
Fryns Syndrome
Abnormal cardiac septum morphology, Tetralogy of Fallot, Abnormal aortic arch morphology, Abnorma... ORPHA:2059
Glucagonoma
Normochromic anemia, Hypercalcemia, Acanthocytosis ORPHA:97280
Chromosome 13Q33-Q34 Deletion Syndrome
Encephalocele, Delayed eruption of teeth, Hypertelorism, Micrognathia, Anencephaly, Deeply set ey... OMIM:619148
Frontofacionasal Dysplasia
Encephalocele, Microphthalmia, Hypertelorism ORPHA:1791
Loeys-Dietz Syndrome 3
Ventricular hypertrophy, Tortuous cerebral arteries, Atrial septal defect, Thoracic aortic aneury... OMIM:613795
Noonan Syndrome 4
Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis OMIM:610733
Costello Syndrome
Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis, Mitral valve prolapse ORPHA:3071
Classic Phenylketonuria
Hypopigmentation of hair, Hypopigmentation of the skin, Hyperphenylalaninemia ORPHA:79254
Distal Deletion 15Q
Bicuspid aortic valve, Mitral atresia, Double outlet right ventricle with doubly committed ventri... ORPHA:1596
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating creatine kinase concentration, Increased circulating free fatty acid level, ... ORPHA:26793
Congenital Disorder Of Glycosylation, Type It
Ventricular septal defect, Dilated cardiomyopathy, Cardiomegaly, Coarctation of aorta OMIM:614921
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Hypoproteinemia, Hypertrichosis ORPHA:1655
Neonatal Marfan Syndrome
Abnormal cardiac ventricle morphology, Mitral valve prolapse, Ascending tubular aorta aneurysm, A... ORPHA:284979
Osteopathia Striata-Cranial Sclerosis Syndrome
Aortic valve stenosis, Coarctation of aorta ORPHA:2780
Noonan Syndrome 7
Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis OMIM:613706
Pseudohypoparathyroidism Type 1B
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures ORPHA:94089
Braddock-Carey Syndrome 2
Microphthalmia, Retrognathia OMIM:619981
Intellectual Developmental Disorder, Autosomal Dominant 45
Pulmonic stenosis OMIM:617600
Coffin-Siris Syndrome 4
Atrial septal defect, Ventricular septal defect, Mitral atresia, Patent ductus arteriosus, Pulmon... OMIM:614609
Cenani-Lenz Syndactyly Syndrome
Pulmonic stenosis OMIM:212780
Timothy Syndrome
Hypocalcemia OMIM:601005
Hyperparathyroidism-Jaw Tumor Syndrome
Hypercalcemia, Hypophosphatemia ORPHA:99880
Kenny-Caffey Syndrome, Type 2
Transient hypophosphatemia, Hyperphosphatemia, Hypocalcemia, Anemia OMIM:127000
Monosomy 18P
Carious teeth, Microphthalmia, Holoprosencephaly, Micrognathia ORPHA:1598
Mycophenolate Mofetil Embryopathy
Ventricular septal defect, Coarctation of aorta ORPHA:268249
Frontonasal Dysplasia 3
Microphthalmia, Hypertelorism OMIM:613456
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Microphthalmia, Micrognathia ORPHA:2547
Parathyroid Carcinoma
Hypercalcemia, Hypophosphatemia ORPHA:143
Thrombocytopenia-Absent Radius Syndrome
Eosinophilia, Leukocytosis, Hepatosplenomegaly, Anemia, Thrombocytopenia OMIM:274000
Opitz Gbbb Syndrome
Ventricular septal defect, Patent foramen ovale, Patent ductus arteriosus, Coarctation of aorta, ... ORPHA:2745
Lowry-Maclean Syndrome
Atrioventricular canal defect, Coarctation of aorta ORPHA:2409
17Q12 Microduplication Syndrome
Microphthalmia, Deeply set eye ORPHA:261272
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Splenomegaly, Hypopigmentation of hair, Cafe-au-lait spot, Hypopigmentation of the skin OMIM:618541
Lymphatic Filariasis
Hypereosinophilia, Hyperpigmentation of the skin ORPHA:2035
Joubert Syndrome 37
Microphthalmia, Deeply set eye, Hypertelorism OMIM:619185
Pearson Syndrome
Reticulocytosis, Pancytopenia, Hyperpigmentation of the skin, Hypomagnesemia, Thrombocytopenia, S... ORPHA:699
Marfanoid-Progeroid-Lipodystrophy Syndrome
Aortic root aneurysm, Mitral valve prolapse OMIM:616914
Tropical Endomyocardial Fibrosis
Right ventricular cardiomyopathy, Left atrial enlargement, Cardiomegaly, Myocardial calcification... ORPHA:75565
Meckel Syndrome 14
Microretrognathia, Occipital encephalocele, Micrognathia, Hypertelorism, Holoprosencephaly, Micro... OMIM:619879
Pagod Syndrome
Situs inversus totalis, Pulmonary artery hypoplasia, Abnormal aortic morphology, Hypoplastic left... ORPHA:991
Chromosome 17Q12 Duplication Syndrome
Microphthalmia, Deeply set eye, Micrognathia OMIM:614526
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Microphthalmia, Hydrocephalus OMIM:613153
Trisomy 13
Anophthalmia, Hypotelorism, Aplasia/Hypoplasia of the iris, Deeply set eye, Microphthalmia ORPHA:3378
Kleefstra Syndrome
Ventricular septal defect, Bicuspid aortic valve, Pulmonary artery stenosis, Coarctation of aorta... ORPHA:261494
Oculodentodigital Dysplasia, Autosomal Recessive
Delayed eruption of teeth, Micrognathia, Hypoplasia of the maxilla, Hypoplasia of the primary tee... OMIM:257850
Pitt-Hopkins-Like Syndrome 2
Pulmonic stenosis OMIM:614325
Williams-Beuren Syndrome
Bicuspid aortic valve, Ventricular septal defect, Retinal arteriolar tortuosity, Mitral valve pro... OMIM:194050
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia OMIM:618183
Aneurysm-Osteoarthritis Syndrome
Arterial tortuosity, Patent ductus arteriosus, Abnormal heart morphology, Dilatation of the cereb... ORPHA:284984
Spondylo-Ocular Syndrome
Microphthalmia, Aplasia/Hypoplasia of the lens, Hypertelorism ORPHA:85194
Nance-Horan Syndrome
Mandibular prognathia, Microphthalmia, Supernumerary tooth ORPHA:627
Isolated Exencephaly
Proptosis, Holoprosencephaly, Hypoplasia of the frontal bone ORPHA:563612
Trichothiodystrophy 3, Photosensitive
Carious teeth, Microphthalmia, Natal tooth, Hypotelorism OMIM:616395
Fanconi Anemia, Complementation Group S
Microphthalmia, Dental malocclusion, Hypertelorism OMIM:617883
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Patent ductus arteriosus, Mitral stenosis, Coarctation of aorta OMIM:617260
Congenital Muscular Dystrophy With Cerebellar Involvement
Microphthalmia, Occipital encephalocele, Hydrocephalus, Optic nerve hypoplasia ORPHA:370959
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Microphthalmia OMIM:251270
Congenital Tracheal Stenosis
Ventricular septal defect, Ascending aorta hypoplasia, Patent ductus arteriosus, Hypoplastic left... ORPHA:141127
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Cardiomegaly, Mitral valve prolapse, Aortic root aneurysm, Atrial septal d... OMIM:245600
Ermine Phenotype
Hypopigmentation of hair, Ocular albinism, Hypopigmented skin patches, Irregular hyperpigmentatio... ORPHA:999
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Microphthalmia ORPHA:1473
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Perimembranous ventricular septal defect ORPHA:83617
Weill-Marchesani Syndrome 2
Ventricular septal defect, Patent ductus arteriosus, Ascending aortic dissection, Pulmonic stenos... OMIM:608328
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, Patent ductus arteriosus, Pulmonic stenosis, At... OMIM:610759
Congenital Primary Aphakia
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia ORPHA:83461
Waardenburg Syndrome
Abnormal eyebrow morphology, Hypopigmentation of hair, Synophrys, Hypopigmented skin patches, Abn... ORPHA:3440
Moebius Syndrome
Microphthalmia, Micrognathia, Hypertelorism OMIM:157900
Ppoma
Hypercalcemia ORPHA:97278
Giant Cell Arteritis
Pericarditis, Vasculitis, Aortic dissection, Double outlet right ventricle with subpulmonary vent... ORPHA:397
Oculocutaneous Albinism Type 1A
Hypopigmentation of hair, Albinism, Ocular albinism, Freckling, Hypopigmentation of the skin, Iri... ORPHA:79431
Coccidioidomycosis
Abnormality of the spleen, Eosinophilia, Granuloma, Abscess ORPHA:228123
Baraitser-Winter Syndrome 1
Microphthalmia, Retrognathia, Hypertelorism OMIM:243310
Neurooculocardiogenitourinary Syndrome
Microphthalmia, Hypertelorism OMIM:618652
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Microphthalmia, Hydrocephalus OMIM:601794
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Atrial septal defect, Patent ductus arteriosus, Double outlet right ventricle, Pulmonic stenosis OMIM:618223
Developmental And Epileptic Encephalopathy 1
Microphthalmia OMIM:308350
Classical-Like Ehlers-Danlos Syndrome Type 2
Carotid artery stenosis, Pericardial effusion, Prominent veins on trunk, Mitral valve prolapse, V... ORPHA:536532
Degcags Syndrome
Ventricular septal defect, Patent ductus arteriosus, Persistent left superior vena cava, Pulmonic... OMIM:619488
Acrodysostosis 2 With Or Without Hormone Resistance
Red hair, Fair hair, Blue irides OMIM:614613
Cholera
Hyponatremia, Hypocalcemia, Hypokalemia, Abnormal blood ion concentration ORPHA:173
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Mitral valve prolapse, Aortic dissection, Arterial dissection, Abnormal venous morphology, Vascul... ORPHA:1900
Albinism, Oculocutaneous, Type Ia
Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Blue irides, Ocular alb... OMIM:203100
Holoprosencephaly-Postaxial Polydactyly Syndrome
Encephalocele, Hypoplasia of the premaxilla, Micrognathia, Hydrocephalus, Hypotelorism, Holoprose... ORPHA:2166
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Encephalocele, Optic nerve hypoplasia, Hydrocephalus, Deeply set eye, Microphthalmia, Retrognathia OMIM:614643
Seckel Syndrome 2
Microphthalmia, Micrognathia OMIM:606744
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Microphthalmia, Hypertelorism OMIM:614105
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Hypopigmentation of hair ORPHA:70472
Igg4-Related Ophthalmic Disease
Eosinophilia, Elevated circulating C-reactive protein concentration ORPHA:449563
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Atrial septal defect, Aortic root aneurysm OMIM:618891
Mend Syndrome
Micrognathia, Hypertelorism, Wide anterior fontanel, Hydrocephalus, Microphthalmia ORPHA:401973
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Mandibular prognathia, Umbilical hernia, Bilateral microphthalmos, Hypertelorism ORPHA:369891
Zollinger-Ellison Syndrome
Hypercalcemia ORPHA:913
Hypocalcemic Vitamin D-Dependent Rickets
Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia ORPHA:289157
Chromosome 1Q41-Q42 Deletion Syndrome
Hypertelorism, Hypotelorism, Deeply set eye, Holoprosencephaly, Microphthalmia OMIM:612530
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Red hair, Hyperbilirubinemia OMIM:609734
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Long eyelashes, Hypocalcemia OMIM:618476
Grfoma
Hypercalcemia ORPHA:97261
Congenital Disorder Of Glycosylation, Type Iq
Microphthalmia, Hypertelorism OMIM:612379
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia OMIM:611038
Scleromyxedema
Stroke, Abnormal coronary artery morphology, Abnormal pulmonary artery morphology, Transient isch... ORPHA:167635
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Bilateral microphthalmos, Optic nerve hypoplasia, Ethmoidal encephalocele OMIM:607597
Osteogenesis Imperfecta, Type Iv
Otosclerosis, Dentinogenesis imperfecta OMIM:166220
Oncogenic Osteomalacia
Hypocalcemia, Hypophosphatemia ORPHA:352540
Subaortic Stenosis-Short Stature Syndrome
Microphthalmia, Micrognathia ORPHA:3191
Multiple Endocrine Neoplasia Type 2
Hypercalcemia ORPHA:653
Bresek Syndrome
Microphthalmia, Hydrocephalus, Optic nerve hypoplasia ORPHA:85284
De Barsy Syndrome
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic aortic arch, Prominent veins on ... ORPHA:2962
Craniofacioskeletal Syndrome
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Interrupted aortic arch OMIM:300712
Syndromic Diarrhea
Hypopigmentation of hair, Brittle hair, Increased mean platelet volume, Splenomegaly, Woolly hair... ORPHA:84064
Igg4-Related Kidney Disease
Eosinophilia, Elevated circulating creatinine concentration, Decreased retinol-binding protein le... ORPHA:449395
Mosaic Trisomy 1
Pulmonary artery atresia, Ventricular septal defect, Coarctation of aorta ORPHA:1692
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Microphthalmia, Hydrocephalus, Micrognathia ORPHA:163966
Multiple Endocrine Neoplasia Type 4
Hypercalcemia ORPHA:276152
Oculoectodermal Syndrome
Transient ischemic attack, Patent ductus arteriosus, Coarctation of aorta, Atrial septal defect, ... OMIM:600268
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Hyponatremia, Calcinosis, Splenomegaly, Hypokalemia, Hypocalcemia OMIM:617913
Fanconi Anemia, Complementation Group J
Microphthalmia OMIM:609054
Fg Syndrome Type 1
Atrial septal defect, Mitral valve prolapse, Coarctation of aorta ORPHA:93932
Sanjad-Sakati Syndrome
Hyperphosphatemia, Hypocalcemia ORPHA:2323
Nasopalpebral Lipoma-Coloboma Syndrome
Hypoplasia of the maxilla, Microphthalmia, Bilateral microphthalmos, Hypertelorism ORPHA:2399
Pelvis-Shoulder Dysplasia
Microphthalmia, Spina bifida occulta OMIM:169550
Takenouchi-Kosaki Syndrome
Patent ductus arteriosus, Abnormal cardiac septum morphology, Pulmonic stenosis OMIM:616737
Juvenile Nephropathic Cystinosis
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalce... ORPHA:411634
Atelis Syndrome 2
Patent ductus arteriosus, Pulmonic stenosis, Supravalvar pulmonary stenosis OMIM:620185
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Microphthalmia, Retrognathia, Deeply set eye, Hypertelorism OMIM:620098
Congenital Rubella Syndrome
Aplasia/Hypoplasia of the iris, Microphthalmia ORPHA:290
Vacterl With Hydrocephalus
Anophthalmia, Spina bifida, Micrognathia, Aqueductal stenosis, Hydrocephalus, Microphthalmia, Ret... ORPHA:3412
Hermansky-Pudlak Syndrome 1
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Ocular albinism, Melanocytic n... OMIM:203300
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Mandibular prognathia, Microphthalmia OMIM:152950
Cartilage-Hair Hypoplasia
Abnormality of retinal pigmentation, Sparse eyebrow, Hypocalcemia, Neutropenia, Sparse hair, Anemia ORPHA:175
Congenital Disorder Of Glycosylation, Type Ig
Hypocalcemia OMIM:607143
Joubert Syndrome 22
Microphthalmia OMIM:615665
Igg4-Related Submandibular Gland Disease
Eosinophilia ORPHA:449432
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia ORPHA:2788
Carney Complex, Type 1
Multiple lentigines, Red hair, Freckling, Profuse pigmented skin lesions, Hirsutism OMIM:160980
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Bicuspid aortic valve, Valvular pulmonary stenosis, Atrial septal defect, Patent foramen ovale, P... OMIM:300707
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Natal tooth, Micrognathia, Hypertelorism, Wide anterior fontanel, Microphthalmia OMIM:617925
Multiple Endocrine Neoplasia Type 1
Large cafe-au-lait macules with irregular margins, Hypercalcemia ORPHA:652
Microphthalmia, Isolated 8
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia OMIM:615113
Mitochondrial Trifunctional Protein Deficiency
Pigmentary retinopathy, Hypocalcemia ORPHA:746
Cousin Syndrome
Micrognathia, Hypertelorism, Hydrocephalus, Deeply set eye, Hydranencephaly, Microphthalmia OMIM:260660
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Hypopigmentation of hair, Hypopigmented skin patches, Multiple cafe-au-lait spots, Freckling, Hyp... ORPHA:3214
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Microphthalmia, Hypotelorism OMIM:619053
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Secundum atrial septal defect, Pulmonic stenosis OMIM:615802
Holoprosencephaly
Encephalocele, Anophthalmia, Hypertelorism, Hydrocephalus, Spinal dysraphism, Hypotelorism, Deepl... ORPHA:2162
Muenke Syndrome
Hypopigmentation of hair, Hypopigmented skin patches, Hypermelanotic macule ORPHA:53271
Pseudohypoparathyroidism Type 1C
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures ORPHA:79444
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Microphthalmia, Hydrocephalus, Abnormally large globe OMIM:615249
2Q37 Microdeletion Syndrome
Abnormal aortic morphology ORPHA:1001
Premature Aging Syndrome, Penttinen Type
Delayed eruption of teeth, Hypertelorism, Micrognathia, Hypoplasia of the maxilla, Hypotelorism, ... OMIM:601812
Mosaic Variegated Aneuploidy Syndrome
Atrial septal defect, Abnormal aortic morphology, Subvalvular aortic stenosis, Coarctation of aorta ORPHA:1052
Holoprosencephaly 7
Occipital meningocele, Hypoplasia of the premaxilla, Hypertelorism, Alobar holoprosencephaly, Hyd... OMIM:610828
Watson Syndrome
Pulmonic stenosis OMIM:193520
Keutel Syndrome
Ventricular septal defect, Pulmonary artery hypoplasia, Pulmonic stenosis, Peripheral pulmonary a... OMIM:245150
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Prominent superficial veins, Cor triatriatum, Secundum atrial septal defect, Patent ductus arteri... OMIM:612541
Autosomal Recessive Robinow Syndrome
Ventricular septal defect, Abnormal pulmonary valve morphology, Abnormal aortic morphology, Abnor... ORPHA:1507
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Microphthalmia OMIM:613730
1Q21.1 Microdeletion Syndrome
Patent ductus arteriosus, Abnormal cardiac septum morphology, Interrupted aortic arch ORPHA:250989
Mosaic Trisomy 9
Spina bifida, Micrognathia, Hypertelorism, Hypotelorism, Microphthalmia ORPHA:99776
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Microphthalmia, Micrognathia, Shallow orbits OMIM:617306
Kaufman Oculocerebrofacial Syndrome
Atrial septal defect, Ventricular septal defect, Coarctation of aorta OMIM:244450
Marfan Syndrome
Mitral valve calcification, Descending aortic dissection, Dilatation of an abdominal artery, Mitr... ORPHA:558
Exudative Vitreoretinopathy 2, X-Linked
Microphthalmia, Deeply set eye OMIM:305390
Rere-Related Neurodevelopmental Syndrome
Microphthalmia, Micrognathia ORPHA:494344
Osteogenesis Imperfecta, Type I
Otosclerosis, Dentinogenesis imperfecta OMIM:166200
Microphthalmia-Brain Atrophy Syndrome
Bilateral microphthalmos ORPHA:77299
Marfan Syndrome
Bicuspid aortic valve, Mitral annular calcification, Mitral valve prolapse, Ascending tubular aor... OMIM:154700
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Thoracic aortic aneurysm, Mitral valve prolapse, Ascending tubular aorta aneurysm, Aortic root an... ORPHA:536467
Gabriele-De Vries Syndrome
Patent foramen ovale, Aortopulmonary collateral arteries OMIM:617557
Trisomy 18
Microretrognathia, Spina bifida, Hypertelorism, Anencephaly, Holoprosencephaly, Microphthalmia, C... ORPHA:3380
Triokinase And Fmn Cyclase Deficiency Syndrome
Microphthalmia OMIM:618805
Noonan Syndrome 14
Hypertrophic cardiomyopathy, Pulmonic stenosis, Mitral valve prolapse OMIM:619745
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Microphthalmia, Hydrocephalus OMIM:300863
Osteopetrosis With Renal Tubular Acidosis
Pancytopenia, Elevated circulating creatine kinase concentration, Anemia, Leukopenia, Elliptocyto... ORPHA:2785
Stromme Syndrome
Optic nerve hypoplasia, Micrognathia, Hypertelorism, Hydrocephalus, Deeply set eye, Microphthalmia OMIM:243605
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Microphthalmia, Hydrocephalus, Anophthalmia, Holoprosencephaly ORPHA:77298
Schimmelpenning-Feuerstein-Mims Syndrome
Coarctation of aorta OMIM:163200
Mucopolysaccharidosis Type 2
Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Peripheral arterial stenosi... ORPHA:580
Oculogastrointestinal Neurodevelopmental Syndrome
Bilateral microphthalmos, Unilateral microphthalmos OMIM:619318
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Microretrognathia, Microphthalmia, Hypertelorism OMIM:618571
Vici Syndrome
Hypopigmentation of hair, Elevated circulating creatine kinase concentration, Albinism, Ocular al... OMIM:242840
Treacher-Collins Syndrome
Encephalocele, Branchial fistula, Abnormal dental enamel morphology, Micrognathia, Hypertelorism,... ORPHA:861
Waardenburg Syndrome, Type 4C
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... OMIM:613266
Warburg Micro Syndrome 4
Microphthalmia, Deeply set eye OMIM:615663
Pelvis-Shoulder Dysplasia
Spina bifida, Micrognathia, Hydrocephalus, Bilateral microphthalmos, Hydranencephaly ORPHA:2839
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Aortic root aneurysm OMIM:615349
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Ventricular septal defect, Patent ductus arteriosus, Intracranial hemorrhage, Interrupted aortic ... ORPHA:163979
Joubert Syndrome 2
Encephalocele, Microphthalmia, Hydrocephalus, Hypertelorism OMIM:608091
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Patent ductus arteriosus, Aortic root aneurysm, Atrial septal defect, Patent foramen ovale, Perip... ORPHA:280633
Multiple Benign Circumferential Skin Creases On Limbs
Microphthalmia, Umbilical hernia, Micrognathia ORPHA:2505
Trichohepatoenteric Syndrome 1
Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis OMIM:222470
Infection-Related Hemolytic Uremic Syndrome
Hyponatremia, Hemolytic anemia, Brain abscess, Leukocytosis, Hyperkalemia, Hypocalcemia, Thromboc... ORPHA:544482
Frontonasal Dysplasia 2
Encephalocele, Microphthalmia, Hypertelorism OMIM:613451
Cerebrooculofacioskeletal Syndrome 4
Deeply set eye, Bilateral microphthalmos, Micrognathia OMIM:610758
Cutis Laxa, Autosomal Recessive, Type Ib
Arterial tortuosity, Aortic root aneurysm, Generalized arterial tortuosity, Pulmonary artery aneu... OMIM:614437
Basel-Vanagaite-Smirin-Yosef Syndrome
Microphthalmia, Retrognathia, Hypertelorism OMIM:616449
Feingold Syndrome 1
Ventricular septal defect, Tricuspid stenosis, Patent ductus arteriosus, Interrupted aortic arch,... OMIM:164280
Curry-Jones Syndrome
Microphthalmia, Hypertelorism ORPHA:1553
Developmental Delay With Or Without Dysmorphic Facies And Autism
Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale, Coarctation of aorta OMIM:618454
Autosomal Recessive Malignant Osteopetrosis
Abnormality of hair texture, Splenomegaly, Hypocalcemia, Hypophosphatemia, Anemia ORPHA:667
Microphthalmia, Syndromic 2
Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Hypoplastic aortic arch, Mitra... OMIM:300166
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Encephalocele, Microretrognathia, Natal tooth, Hypertelorism, Microphthalmia OMIM:616300
Anterior Segment Dysgenesis 5
Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia OMIM:604229
Viss Syndrome
Tortuous cerebral arteries, Epidural hemorrhage, Right ventricular dilatation, Atrial septal defe... OMIM:619472
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hypocalcemic tetany, Hypocalcemia, Hypomagnesemia ORPHA:73224
Alport Syndrome
Renal glomerular foam cells, Aortic aneurysm, Abnormal aortic morphology ORPHA:63
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Microphthalmia, Micrognathia ORPHA:404440
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Vascular ring, Abnorm... ORPHA:353281
Meckel Syndrome
Encephalocele, Anophthalmia, Hypertelorism, Micrognathia, Hydrocephalus, Anencephaly, Lobar holop... ORPHA:564
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:98795
Mucopolysaccharidosis Type 2, Severe Form
Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Peripheral arterial stenosi... ORPHA:217085
Microphthalmia, Syndromic 11
Microphthalmia OMIM:614402
Microphthalmia, Isolated, With Coloboma 9
Microphthalmia, Hypertelorism OMIM:615145
Zimmermann-Laband Syndrome 1
Aortic arch aneurysm, Cardiomyopathy, Patent ductus arteriosus, Aortic root aneurysm OMIM:135500
Noonan Syndrome 1
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Pulmonic stenosis, Atr... OMIM:163950
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Microphthalmia, Optic nerve hypoplasia OMIM:614833
Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia, Hypertelorism ORPHA:2717
Hartsfield Syndrome
Hypertelorism, Alobar holoprosencephaly, Lobar holoprosencephaly, Hypotelorism, Hypoplasia of the... OMIM:615465
Adams-Oliver Syndrome
Encephalocele, Microphthalmia, Hydrocephalus ORPHA:974
Hennekam Syndrome
Splenomegaly, Lymphopenia, Hypocalcemia, Sparse axillary hair ORPHA:2136
Mucopolysaccharidosis Type 2, Attenuated Form
Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Peripheral arterial stenosi... ORPHA:217093
Microphthalmia With Limb Anomalies
Microphthalmia, Anophthalmia, Retrognathia OMIM:206920
Pseudohypoparathyroidism Type 1A
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures ORPHA:79443
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Patent ductus arteriosus, Coarctation of aorta, Interrupted aortic arch, Hypertrophic cardiomyopa... ORPHA:17
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Microphthalmia ORPHA:363741
Sotos Syndrome
Hypercalcemia, Sparse anterior scalp hair, Acute lymphoblastic leukemia, Small nail, Hypopigmenta... ORPHA:821
Nance-Horan Syndrome
Supernumerary maxillary incisor, Microphthalmia, Screwdriver-shaped incisors, Mulberry molar OMIM:302350
Myoclonic-Astatic Epilepsy
Microphthalmia ORPHA:1942
Skin Creases, Congenital Symmetric Circumferential, 1
Microphthalmia, Micrognathia, Hypertelorism OMIM:156610
Tetraamelia-Multiple Malformations Syndrome
Microphthalmia, Septo-optic dysplasia, Hydrocephalus, Micrognathia ORPHA:3301
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Occipital encephalocele, Optic nerve hypoplasia, Micrognathia, Meningoencephalocele, Hydrocephalu... OMIM:236670
Alagille Syndrome 1
Ventricular septal defect, Coarctation of aorta, Stroke, Renal artery stenosis, Atrial septal def... OMIM:118450
Trichothiodystrophy 4, Nonphotosensitive
Microphthalmia, Retrognathia, Hypoplasia of teeth OMIM:234050
Exercise-Induced Malignant Hyperthermia
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia, Hypocalcemia... ORPHA:466650
Liver Disease, Severe Congenital
Hyponatremia, Dry hair, Elevated circulating alpha-fetoprotein concentration, Increased circulati... OMIM:619991
Basal Cell Nevus Syndrome 1
Mandibular prognathia, Spina bifida, Hypertelorism, Hydrocephalus, Microphthalmia OMIM:109400
Hermansky-Pudlak Syndrome
Hypopigmentation of hair, Partial albinism, Ocular albinism, Melanocytic nevus, Long eyelashes, N... ORPHA:79430
Cushing Disease
Sparse scalp hair, Leukocytosis, Hirsutism, Decreased eosinophil count, Lymphopenia, Hyperpigment... ORPHA:96253
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Encephalocele, Microphthalmia, Hydrocephalus, Buphthalmos OMIM:613150
Sacral Defect With Anterior Meningocele
Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract OMIM:600145
Holoprosencephaly 9
Anophthalmia, Optic nerve hypoplasia, Hypoplasia of the premaxilla, Hypoplasia of the maxilla, Hy... OMIM:610829
Wiskott-Aldrich Syndrome
Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Thrombocytopenia, Chronic le... ORPHA:906
Hypohidrotic Ectodermal Dysplasia
Abnormal hair quantity, Slow-growing hair, Aplasia/Hypoplasia of the eyebrow, Breast aplasia, Gen... ORPHA:238468
Cranioectodermal Dysplasia 1
Slow-growing hair, Short nail, Thin nail, Fine hair, Hypocalcemia, Sparse hair OMIM:218330
17Q24.2 Microdeletion Syndrome
Otosclerosis, Micrognathia, Deeply set eye, Hypertelorism ORPHA:529962
Warburg Micro Syndrome 3
Microphthalmia, Micrognathia OMIM:614222
Cockayne Syndrome Type 3
Subdural hemorrhage, Cardiomyopathy, Aortic root aneurysm, Stroke, Vascular calcification, Premat... ORPHA:90324
Momo Syndrome
Delayed eruption of teeth, Hypertelorism, Bilateral microphthalmos, Dental malocclusion, Taurodontia ORPHA:2563
Loeys-Dietz Syndrome
Arterial tortuosity, Patent ductus arteriosus, Aortic dissection, Arterial dissection, Vascular d... ORPHA:60030
Cerebrofacioarticular Syndrome
Pulmonic stenosis, Abnormal heart morphology ORPHA:314679
Idiopathic Uveal Effusion Syndrome
Microphthalmia ORPHA:209956
Angelman Syndrome Due To A Point Mutation
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:411511
Orofaciodigital Syndrome Vi
Hypoplastic left heart, Coarctation of aorta OMIM:277170
Brittle Cornea Syndrome
Pulmonic stenosis, Mitral valve prolapse ORPHA:90354
Fetal Alcohol Syndrome
Microphthalmia, Micrognathia ORPHA:1915
Hallermann-Streiff Syndrome
Natal tooth, Spina bifida, Micrognathia, Supernumerary tooth, Dental malocclusion, Microphthalmia OMIM:234100
22Q11.2 Deletion Syndrome
Ventricular septal defect, Abnormal pulmonary valve morphology, Retinal arteriolar tortuosity, Pa... ORPHA:567
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Patent ductus arteriosus, Atrioventricular canal defect, Coarctation of aorta OMIM:619480
Pseudohypoparathyroidism, Type Ia
Hypocalcemic tetany, Hyperphosphatemia OMIM:103580
Deafness, X-Linked 7
Unilateral microphthalmos OMIM:301018
Galloway-Mowat Syndrome 3
Microphthalmia, Micrognathia, Deeply set eye, Hypertelorism OMIM:617729
8Q21.11 Microdeletion Syndrome
Microphthalmia, Micrognathia, Hypertelorism ORPHA:284160
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A... ORPHA:2334
Oculofaciocardiodental Syndrome
Delayed eruption of teeth, Microphthalmia ORPHA:2712
Fanconi Anemia
Patent ductus arteriosus, Abnormal carotid artery morphology, Abnormal aortic morphology, Arterio... ORPHA:84
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Ventricular septal defect, Patent ductus arteriosus, Abnormal heart morphology, Aortic root aneur... ORPHA:444077
Esophageal Atresia
Tetralogy of Fallot, Ventricular septal defect, Coarctation of aorta ORPHA:1199
Spondylodysplastic Ehlers-Danlos Syndrome
Prominent scalp veins, Abnormal heart valve morphology, Ascending tubular aorta aneurysm, Pulmoni... ORPHA:536471
Walker-Warburg Syndrome
Microphthalmia, Hydrocephalus, Anophthalmia ORPHA:899
Ethylene Glycol Poisoning
Hyperkalemia, Hypocalcemia ORPHA:31826
Frontometaphyseal Dysplasia 2
Patent foramen ovale, Patent ductus arteriosus, Bicuspid aortic valve, Pulmonic stenosis OMIM:617137
Curry-Jones Syndrome
Microphthalmia, Occipital meningocele, Lipomyelomeningocele OMIM:601707
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Patent ductus arteriosus, Atrioventricular canal defect, Coarctation of aorta OMIM:617088
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Microphthalmia, Enamel hypoplasia, Dental malocclusion, Persistence of primary teeth OMIM:618727
Diamond-Blackfan Anemia
Radial artery aplasia, Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta... ORPHA:124
Myhre Syndrome
Ventricular septal defect, Pericardial effusion, Patent ductus arteriosus, Coarctation of aorta, ... OMIM:139210
Chromosome 8Q21.11 Deletion Syndrome
Microphthalmia, Micrognathia, Hypertelorism OMIM:614230
Koolen-De Vries Syndrome Due To A Point Mutation
Bicuspid aortic valve, Ventricular septal defect, Intraventricular hemorrhage, Abnormal heart mor... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Bicuspid aortic valve, Ventricular septal defect, Intraventricular hemorrhage, Abnormal heart mor... ORPHA:363958
Cardiofaciocutaneous Syndrome
Atrial septal defect, Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Pulmonic sten... ORPHA:1340
Duane-Radial Ray Syndrome
Microphthalmia, Spina bifida occulta, Optic disc hypoplasia, Hypertelorism OMIM:607323
Stevenson-Carey Syndrome
Microphthalmia OMIM:611961
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis OMIM:607721
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia, Hypertelorism OMIM:248450
X-Linked Dominant Chondrodysplasia Punctata
Microphthalmia, Hypertelorism ORPHA:35173
Fanconi Anemia, Complementation Group R
Microphthalmia, Hydrocephalus OMIM:617244
Diamond-Blackfan Anemia 1
Atrial septal defect, Ventricular septal defect, Tricuspid stenosis, Coarctation of aorta OMIM:105650
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Buphthalmos, Microphthalmia, Hydrocephalus OMIM:616538
Wiedemann-Rautenstrauch Syndrome
Prominent scalp veins, Congenital malformation of the left heart, Dysplastic pulmonary valve, Pul... ORPHA:3455
Jacobsen Syndrome
Micrognathia, Hypertelorism, Hydrocephalus, Macular hypoplasia, Holoprosencephaly, Microphthalmia OMIM:147791
Tbck-Related Intellectual Disability Syndrome
Ventricular septal defect, Pulmonic stenosis ORPHA:488632
Microphthalmia, Isolated, With Corectopia
Microphthalmia OMIM:156900
Martsolf Syndrome 1
Hypoplasia of the maxilla, Microphthalmia, Micrognathia OMIM:212720
Warburg Micro Syndrome 2
Microphthalmia, Deeply set eye OMIM:614225
Fanconi Anemia, Complementation Group I
Microphthalmia, Optic nerve hypoplasia OMIM:609053
Brittle Cornea Syndrome 1
Red hair OMIM:229200
Fontaine Progeroid Syndrome
Mandibular prognathia, Hypertelorism, Micrognathia, Wide anterior fontanel, Hydrocephalus, Umbili... OMIM:612289
Basel-Vanagaite-Smirin-Yosef Syndrome
Mandibular prognathia, Microphthalmia, Retrognathia, Hypertelorism ORPHA:464738
Microcephaly-Micromelia Syndrome
Aqueductal stenosis, Microphthalmia, Micrognathia OMIM:251230
Rothmund-Thomson Syndrome, Type 2
Mandibular prognathia, Delayed eruption of teeth, Micrognathia, Hypertelorism, Supernumerary toot... OMIM:268400
Rajab Interstitial Lung Disease With Brain Calcifications 1
Pancytopenia, Hypoalbuminemia, Hypocalcemia, Unconjugated hyperbilirubinemia, Anemia OMIM:613658
Cardiofaciocutaneous Syndrome 1
Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis OMIM:115150
T-Cell Immunodeficiency With Thymic Aplasia
Decreased proportion of naive T cells, Aplasia of the thymus, T lymphocytopenia, Coombs-positive ... ORPHA:83471
Focal Dermal Hypoplasia
Abnormal dental enamel morphology, Spina bifida, Hypoplasia of the iris, Microphthalmia, Umbilica... ORPHA:2092
Igg4-Related Thyroid Disease
Hypocalcemia ORPHA:64744
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Medial calcification of large arteries, Transient ischemic attack, Coron... ORPHA:51608
Jacobsen Syndrome
Ventricular septal defect, Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta ORPHA:2308
Mosaic Variegated Aneuploidy Syndrome 1
Atrial septal defect, Pulmonic stenosis OMIM:257300
Oculoauricular Syndrome
Short mandibular rami, Phthisis bulbi, Macular hypoplasia, Microphakia, Microphthalmia, Spina bif... OMIM:612109
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Microphthalmia, Cleft mandible, Agenesis of central incisor, Hypertelorism ORPHA:364577
Anterior Segment Dysgenesis 2
Aniridia, Microphthalmia, Congenital aphakia, Anterior segment of eye aplasia OMIM:610256
Microphthalmia With Brain And Digit Anomalies
Microphthalmia, Anophthalmia ORPHA:139471
Gitelman Syndrome
Hypermagnesemia, Iron deficiency anemia, Hypokalemia, Hypocalcemia, Hypomagnesemia ORPHA:358
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Mandibular prognathia, Microphthalmia, Hypertelorism ORPHA:1236
Micro Syndrome
Microphthalmia, Micrognathia ORPHA:2510
2Q31.1 Microdeletion Syndrome
Microphthalmia, Proptosis, Micrognathia, Hypertelorism ORPHA:251014
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Buphthalmos, Microphthalmia OMIM:212550
Hardikar Syndrome
Ventricular septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Partial anomalous... OMIM:301068
Leopard Syndrome 1
Complete atrioventricular canal defect, Mitral valve prolapse, Pulmonic stenosis, Subvalvular aor... OMIM:151100
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Anomalous origin of l... ORPHA:438213
Femoral-Facial Syndrome
Truncus arteriosus, Ventricular septal defect, Pulmonic stenosis OMIM:134780
Cornea Plana 2, Autosomal Recessive
Microphthalmia OMIM:217300
Meckel Syndrome, Type 1
Occipital encephalocele, Natal tooth, Hypertelorism, Micrognathia, Large placenta, Hydrocephalus,... OMIM:249000
Anterior Segment Dysgenesis 7
Buphthalmos, Microphthalmia OMIM:269400
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:98794
Classical Ehlers-Danlos Syndrome
Mitral valve prolapse, Dilatation of the cerebral artery, Aortic root aneurysm, Arteriovenous fis... ORPHA:287
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Microphthalmia, Hypoplasia of teeth ORPHA:2728
Galloway-Mowat Syndrome 1
Hypoplasia of the iris, Microphthalmia, Micrognathia, Hypertelorism OMIM:251300
Peters Plus Syndrome
Patent ductus arteriosus, Bicuspid pulmonary valve, Abnormal pulmonary vein morphology, Abnormal ... ORPHA:709
Cohen Syndrome
Hypoplasia of the maxilla, Microphthalmia, Hypoplasia of the zygomatic bone, Micrognathia ORPHA:193
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Vascular ring, Coarct... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Vascular ring, Coarct... ORPHA:353277
Ohdo Syndrome, X-Linked
Microphthalmia, Micrognathia, Hypertelorism OMIM:300895
Refsum Disease
Microphthalmia ORPHA:773
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Microphthalmia, Micrognathia ORPHA:1352
Monosomy 9Q22.3
Microphthalmia, Umbilical hernia, Hydrocephalus, Delayed eruption of teeth ORPHA:77301
Primary Sclerosing Cholangitis
Abnormal eosinophil morphology, Splenomegaly, Hepatosplenomegaly, Hypoalbuminemia, Histiocytosis ORPHA:171
Mowat-Wilson Syndrome
Ventricular septal defect, Pulmonary artery sling, Pulmonary artery stenosis, Patent ductus arter... OMIM:235730
Congenital Fibrinogen Deficiency
Microphthalmia ORPHA:335
Rodrigues Blindness
Microphthalmia OMIM:268320
8Q24.3 Microdeletion Syndrome
Ventricular septal defect, Complete atrioventricular canal defect, Patent ductus arteriosus, Hypo... ORPHA:508488
Cockayne Syndrome B
Mandibular prognathia, Delayed eruption of primary teeth, Carious teeth, Dental malocclusion, Hyp... OMIM:133540
Costello Syndrome
Ventricular septal defect, Mitral valve prolapse, Pulmonic stenosis, Atrial septal defect, Hypert... OMIM:218040
Microcephaly 20, Primary, Autosomal Recessive
Microphthalmia, Optic nerve hypoplasia OMIM:617914
Osteogenesis Imperfecta
Abnormal endocardium morphology, Cerebral hemorrhage, Mitral valve prolapse, Aortic root aneurysm... ORPHA:666
Chromosome 1P36 Deletion Syndrome, Distal
Noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Patent ductus art... OMIM:607872
Encephalocraniocutaneous Lipomatosis
Hypoplasia of the iris, Microphthalmia, Hydrocephalus OMIM:613001
Fanconi Anemia, Complementation Group L
Microphthalmia, Hydrocephalus, Micrognathia, Hypertelorism OMIM:614083
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypocalcemia, Hypocalcemic seizures ORPHA:2237
Isolated Arrhinia
Microphthalmia, Hypoplasia of the nasal bone, Hypertelorism ORPHA:1134
Microphthalmia, Lenz Type
Delayed eruption of teeth, Microphthalmia ORPHA:568
Autosomal Dominant Kenny-Caffey Syndrome
Hypocalcemic tetany, Hyperphosphatemia, Anemia, Hypocalcemic seizures ORPHA:93325
17Q11 Microdeletion Syndrome
Abnormal internal carotid artery morphology, Coarctation of aorta, Abnormal heart morphology, Dil... ORPHA:97685
Trichothiodystrophy
Hypertelorism, Carious teeth, Hypoplasia of mandible relative to maxilla, Bilateral microphthalmo... ORPHA:33364
Trichothiodystrophy 1, Photosensitive
Microphthalmia, Retrognathia OMIM:601675
Vitreoretinochoroidopathy
Microphthalmia OMIM:193220
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Abnormal eyebrow morphology, Hypopigmentation of hair, Splenomegaly, Hypopigmented skin patches, ... ORPHA:163746
Cystinosis, Nephropathic
Hyponatremia, Hypopigmentation of hair, Splenomegaly, Retinal pigment epithelial mottling, Reduce... OMIM:219800
Acrofrontofacionasal Dysostosis 1
Mandibular prognathia, Microphthalmia, Hypertelorism OMIM:201180
Osteopetrosis, Autosomal Recessive 8
Unilateral microphthalmos OMIM:615085
Chromosome 13Q14 Deletion Syndrome
Micrognathia, Hypotelorism, Umbilical hernia, Holoprosencephaly, Microphthalmia OMIM:613884
Kabuki Syndrome
Abnormal cardiac septum morphology, Coarctation of aorta ORPHA:2322
Microphthalmia, Syndromic 5
Microphthalmia, Anophthalmia, Optic nerve hypoplasia OMIM:610125
Autosomal Dominant Cutis Laxa
Dilatation of the ventricular cavity, Aortic aneurysm, Peripheral pulmonary artery stenosis, Coar... ORPHA:90348
Koolen-De Vries Syndrome
Hypopigmentation of hair, Abnormality of hair texture ORPHA:96169
Oculocerebral Hypopigmentation Syndrome, Cross Type
Hypopigmentation of hair, Ocular albinism, Anemia, Iris hypopigmentation ORPHA:2719
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Bicuspid aortic valve, Mitral atresia, Aortic valve atresia, Coarctation of aorta, Left ventricul... OMIM:220111
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microphthalmia ORPHA:231736
Familial Exudative Vitreoretinopathy
Microphthalmia ORPHA:891
Arboleda-Tham Syndrome
Ventricular septal defect, Secundum atrial septal defect, Patent ductus arteriosus, Pulmonic sten... OMIM:616268
Monosomy 13Q14
Microphthalmia, Micrognathia, Holoprosencephaly, Hypertelorism ORPHA:1587
Proboscis Lateralis
Aplasia/Hypoplasia of the maxilla, Anophthalmia, Optic nerve hypoplasia, Hypertelorism, Proptosis... ORPHA:141099
Au-Kline Syndrome
Aortic root aneurysm OMIM:616580
Ileal Neuroendocrine Tumor
Tricuspid stenosis, Pulmonic stenosis ORPHA:100078
Kapur-Toriello Syndrome
Microphthalmia ORPHA:2328
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Branchial cyst, Natal tooth, Micrognathia, Hypertelorism, Carious teeth, Microphthalmia OMIM:620186
Matthew-Wood Syndrome
Microphthalmia, Anophthalmia ORPHA:2470
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Ventricular hypertrophy, Ventricular septal defect, Mitral stenosis, Tricuspid stenosis, Pulmonic... OMIM:143095
Neu-Laxova Syndrome 1
Spina bifida, Hypertelorism, Micrognathia, Proptosis, Short umbilical cord, Small placenta, Hydra... OMIM:256520
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Ventricular septal defect, Abnormal heart morphology, Mitral valve prolapse, Pulmonic stenosis, A... ORPHA:363700
Linear Skin Defects With Multiple Congenital Anomalies 3
Microphthalmia, Delayed eruption of primary teeth OMIM:300952
Dubowitz Syndrome
Delayed eruption of teeth, Micrognathia, Carious teeth, Hypoplasia of the iris, Microphthalmia OMIM:223370
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Micrognathia, Hypertelorism, Hypotelorism, Deeply set eye, Microphthalmia OMIM:616975
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Patent ductus arteriosus, Aortic rupture OMIM:614557
Oculocerebrorenal Syndrome Of Lowe
Mandibular prognathia, Delayed eruption of teeth, Abnormal dental enamel morphology, Micrognathia... ORPHA:534
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Fanconi Anemia, Complementation Group D2
Microphthalmia, Hydrocephalus, Hypertelorism, Hypotelorism OMIM:227646
Neurofibromatosis-Noonan Syndrome
Secundum atrial septal defect, Pulmonic stenosis OMIM:601321
45,X/46,Xy Mixed Gonadal Dysgenesis
Bicuspid aortic valve, Coarctation of aorta ORPHA:1772
Ectodermal Dysplasia-Blindness Syndrome
Microphthalmia ORPHA:1806
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Right aortic arch, Ventricular septal defect ORPHA:513456
3Q29 Microduplication Syndrome
Aniridia, Microphthalmia ORPHA:251038
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Microretrognathia, Optic nerve hypoplasia, Bilateral microphthalmos, Hypotelorism, Lobar holopros... ORPHA:468631
Pallister-Hall Syndrome
Microphthalmia, Holoprosencephaly, Natal tooth OMIM:146510
Dermatomyositis
Abnormal hair quantity, Abnormal eosinophil morphology, Abnormality of the nail ORPHA:221
Blomstrand Lethal Chondrodysplasia
Coarctation of aorta ORPHA:50945
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Hypoplastic aortic arch ORPHA:457284
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Ventricular septal defect, Pulmonary artery stenosis, Abnormal aortic arch morphology, Atrial sep... ORPHA:96334
Aicardi Syndrome
Microphthalmia, Prominence of the premaxilla, Spina bifida OMIM:304050
Holoprosencephaly 2
Aplasia of the premaxilla, Alobar holoprosencephaly, Hypotelorism, Proptosis, Holoprosencephaly, ... OMIM:157170
Teebi-Shaltout Syndrome
Microphthalmia, Hypertelorism OMIM:272950
Prader-Willi Syndrome
Hypopigmentation of hair, Frontal upsweep of hair, Generalized hypopigmentation, Hypopigmentation... OMIM:176270
Kapur-Toriello Syndrome
Microphthalmia OMIM:244300
Coloboma, Ocular, Autosomal Dominant
Microphthalmia, Optic nerve aplasia OMIM:120200
Microphthalmia With Limb Anomalies
Hypoplasia of the premaxilla, Micrognathia, Hypoplasia of the maxilla, Hydrocephalus, Microphthal... ORPHA:1106
Chondrodysplasia Punctata 2, X-Linked Dominant
Microphthalmia OMIM:302960
Fraser Syndrome
Encephalocele, Anophthalmia, Hypertelorism, Myelomeningocele, Dental malocclusion, Microphthalmia... ORPHA:2052
Cocaine Intoxication
Subarachnoid hemorrhage, Ischemic stroke, Cerebral hemorrhage, Aortic dissection ORPHA:90068
Bosma Arhinia Microphthalmia Syndrome
Microphthalmia, Dental malocclusion, Hypoplasia of teeth, Hypertelorism OMIM:603457
Perlman Syndrome
Interrupted aortic arch OMIM:267000
Cushing Syndrome Due To Ectopic Acth Secretion
Sparse scalp hair, Leukocytosis, Hirsutism, Decreased eosinophil count, Lymphopenia, Hyperpigment... ORPHA:99889
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Microphthalmia, Anophthalmia, Failure of eruption of permanent teeth ORPHA:2250
Norrie Disease
Hypoplasia of the iris, Microphthalmia, Buphthalmos OMIM:310600
Hallermann-Streiff Syndrome
Microphthalmia, Supernumerary tooth, Natal tooth, Micrognathia ORPHA:2108
Legius Syndrome
Pulmonic stenosis, Mitral valve prolapse ORPHA:137605
Bartsocas-Papas Syndrome 1
Hypoplasia of the maxilla, Microphthalmia, Micrognathia, Hypertelorism OMIM:263650
Sim1-Related Prader-Willi-Like Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:398079
Beckwith-Wiedemann Syndrome
Mandibular prognathia, Otosclerosis, Wide anterior fontanel, Large placenta, Proptosis, Umbilical... ORPHA:116
Floating-Harbor Syndrome
Atrial septal defect, Mesocardia, Persistent left superior vena cava, Coarctation of aorta OMIM:136140
Johanson-Blizzard Syndrome
Sparse scalp hair, Increased VLDL cholesterol concentration, Conjugated hyperbilirubinemia, Splen... OMIM:243800
Roberts Syndrome
Microphthalmia, Proptosis, Micrognathia, Hypertelorism ORPHA:3103
Oculodentodigital Dysplasia
Carious teeth, Microphthalmia, Enamel hypoplasia, Taurodontia OMIM:164200
Turner Syndrome Due To Structural X Chromosome Anomalies
Aortic arch aneurysm, Atrial septal defect, Bicuspid aortic valve, Coarctation of aorta, Gastroin... ORPHA:99413
Mosaic Monosomy X
Aortic arch aneurysm, Atrial septal defect, Bicuspid aortic valve, Coarctation of aorta, Gastroin... ORPHA:99228
Monosomy X
Aortic arch aneurysm, Atrial septal defect, Bicuspid aortic valve, Coarctation of aorta, Gastroin... ORPHA:99226
Turner Syndrome
Aortic arch aneurysm, Atrial septal defect, Bicuspid aortic valve, Coarctation of aorta, Gastroin... ORPHA:881
3Q29 Microdeletion Syndrome
Microphthalmia ORPHA:65286
Autosomal Recessive Faciodigitogenital Syndrome
Dry hair, Coarse hair, Hypopigmentation of hair, Widow's peak ORPHA:1974
Lymphedema-Distichiasis Syndrome
Microphthalmia, Micrognathia OMIM:153400
Prader-Willi Syndrome Due To Translocation
Hypopigmentation of hair, Stellate iris, Hypopigmentation of the skin, Hyperpigmentation of the s... ORPHA:177907
Focal Dermal Hypoplasia
Delayed eruption of teeth, Anophthalmia, Myelomeningocele, Hydrocephalus, Dental malocclusion, An... OMIM:305600
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Enamel hypoplasia, Unilateral microphthalmos OMIM:618874
Persistent Hyperplastic Primary Vitreous
Buphthalmos, Microphthalmia, Phthisis bulbi, Macular hypoplasia ORPHA:91495
Ctcf-Related Neurodevelopmental Disorder
Atrial septal defect, Patent ductus arteriosus, Coarctation of aorta ORPHA:363611
Acro-Renal-Ocular Syndrome
Microphthalmia, Optic disc hypoplasia, Hypertelorism ORPHA:959
Vascular Ehlers-Danlos Syndrome
Peripheral arteriovenous fistula, Arterial dissection, Transient ischemic attack, Abnormal heart ... ORPHA:286
Smith-Lemli-Opitz Syndrome
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Atrial septal defect, ... OMIM:270400
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Microphthalmia, Cleft mandible, Micrognathia, Hypertelorism OMIM:608670
Charge Syndrome
Delayed eruption of teeth, Anophthalmia, Hypertelorism, Aqueductal stenosis, Hypoplasia of the zy... ORPHA:138
Monosomy 9P
Microphthalmia, Micrognathia, Hypertelorism ORPHA:261112
Kabuki Syndrome 1
Atrial septal defect, Ventricular septal defect, Coarctation of aorta OMIM:147920
Holoprosencephaly 1
Alobar holoprosencephaly, Hypotelorism, Microphthalmia, Cyclopia, Ethmocephaly OMIM:236100
Microphthalmia With Linear Skin Defects Syndrome
Anophthalmia, Abnormal dental enamel morphology, Micrognathia, Hydrocephalus, Mandibular aplasia,... ORPHA:2556
Papillorenal Syndrome
Microphthalmia OMIM:120330
Skin Creases, Congenital Symmetric Circumferential, 2
Carious teeth, Microphthalmia, Micrognathia, Hypertelorism OMIM:616734
Oculopalatocerebral Syndrome
Microphthalmia OMIM:257910
Magel2-Related Prader-Willi-Like Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:398069
Digeorge Syndrome
Ventricular septal defect, Patent ductus arteriosus, Interrupted aortic arch, Truncus arteriosus,... OMIM:188400
Floating-Harbor Syndrome
Tetralogy of Fallot, Coarctation of aorta, Atrial septal defect, Mesocardia, Persistent left supe... ORPHA:2044
Fraser Syndrome 1
Encephalocele, Anophthalmia, Hypertelorism, Myelomeningocele, Bilateral microphthalmos, Dental ma... OMIM:219000
Simpson-Golabi-Behmel Syndrome, Type 1
Ventricular septal defect, Patent ductus arteriosus, Cardiomyopathy, Total anomalous pulmonary ve... OMIM:312870
Autosomal Recessive Hypophosphatemic Rickets
Hypocalcemic tetany, Hypophosphatemic rickets, Renal hypophosphatemia, Tooth abscess ORPHA:289176
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:98754
Yunis-Varon Syndrome
Micrognathia, Hypertelorism, Abnormality of dental structure, Hydrocephalus, Bilateral microphtha... ORPHA:3472
Microphthalmia, Syndromic 3
Microphthalmia, Optic nerve aplasia, Anophthalmia, Optic nerve hypoplasia OMIM:206900
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Buphthalmos, Microphthalmia, Phthisis bulbi OMIM:221900
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Microphthalmia, Micrognathia, Hypertelorism OMIM:609945
Cockayne Syndrome
Delayed eruption of primary teeth, Carious teeth, Dental malocclusion, Deeply set eye, Microphtha... ORPHA:191
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:98793
Fanconi Anemia, Complementation Group F
Microphthalmia OMIM:603467
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:177901
Biliary, Renal, Neurologic, And Skeletal Syndrome
Cor triatriatum, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Common atrium, ... OMIM:619534
Xeroderma Pigmentosum, Complementation Group B
Microphthalmia OMIM:610651
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Microphthalmia, Retrognathia, Dental malocclusion OMIM:601552
Xeroderma Pigmentosum, Complementation Group D
Microphthalmia OMIM:278730
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Microphthalmia, Anophthalmia OMIM:615877
Histiocytoid Cardiomyopathy
Microphthalmia, Hydrocephalus, Congenital aphakia ORPHA:137675
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Microphthalmia ORPHA:85167
Fryns Syndrome
Microretrognathia, Microphthalmia, Hypertelorism OMIM:229850
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Few cafe-au-lait spots, Hypocalcemia OMIM:620330
Blepharophimosis, Ptosis, And Epicanthus Inversus
Microphthalmia OMIM:110100
Prader-Willi Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:739
Fanconi Anemia, Complementation Group E
Microphthalmia OMIM:600901
Steinfeld Syndrome
Microphthalmia, Holoprosencephaly OMIM:184705
Fanconi Anemia, Complementation Group A
Microphthalmia OMIM:227650
Witteveen-Kolk Syndrome
Microretrognathia, Branchial fistula, Hypertelorism, Deeply set eye, Shallow orbits, Microphthalm... OMIM:613406
Nicolaides-Baraitser Syndrome
Coarctation of aorta OMIM:601358
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Micrognathia, Hydrocephalus, Buphthalmos, Hypoplasia of the retina, Microphthalmia OMIM:253280
Aicardi Syndrome
Microphthalmia, Prominence of the premaxilla ORPHA:50
Neuroocular Syndrome
Hypoplasia of the fovea, Lens coloboma, Deeply set eye, Microphthalmia, Umbilical hernia, Retrogn... OMIM:619539
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Microphthalmia, Micrognathia OMIM:620005
Pierson Syndrome
Rieger anomaly, Hypoplasia of the ciliary body, Hypoplasia of the iris, Macular hypoplasia, Micro... OMIM:609049
Fanconi Anemia, Complementation Group C
Microphthalmia OMIM:227645
Hydrolethalus Syndrome 1
Microphthalmia, Anencephaly, Severe hydrocephalus, Micrognathia OMIM:236680
Menkes Disease
Sparse hair, Woolly hair, Hypopigmentation of hair ORPHA:565
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Bicuspid aortic valve, Pulmonary artery sling, Ventricular septal defect, Abnormal pulmonary valv... ORPHA:261552
Branchiooculofacial Syndrome
Anophthalmia, Micrognathia, Hypertelorism, Cleft of chin, Branchial anomaly, Microphthalmia OMIM:113620
Tetraamelia Syndrome 1
Microphthalmia, Hydrocephalus, Micrognathia OMIM:273395
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Bicuspid aortic valve, Pulmonary artery sling, Abnormal pulmonary valve morphology, Tetralogy of ... ORPHA:261537
Craniofacial Microsomia 1
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Right aortic arch, Tet... OMIM:164210
Peters-Plus Syndrome
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Pulmonic stenosis OMIM:261540
Pallister-Hall Syndrome
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Atrial septal defect, ... ORPHA:672
Roberts-Sc Phocomelia Syndrome
Hypertelorism, Micrognathia, Hydrocephalus, Frontal encephalocele, Proptosis, Shallow orbits, Mic... OMIM:268300
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Microphthalmia, Anophthalmia ORPHA:2526
Smith-Lemli-Opitz Syndrome
Abnormal eyelash morphology, Hypopigmentation of hair, Elevated circulating 7-dehydrocholesterol ... ORPHA:818
Mowat-Wilson Syndrome
Bicuspid aortic valve, Pulmonary artery sling, Patent ductus arteriosus, Coarctation of aorta, Ab... ORPHA:2152
Microgastria-Limb Reduction Defect Syndrome
Microphthalmia, Anophthalmia ORPHA:2538
Linear Nevus Sebaceus Syndrome
Microphthalmia ORPHA:2612
Oculo-Palato-Cerebral Syndrome
Microphthalmia ORPHA:2714
Renpenning Syndrome 1
Mandibular prognathia, Microphthalmia, Micrognathia OMIM:309500
Fraser Syndrome 2
Microphthalmia OMIM:617666
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia, Phthisis bulbi OMIM:259770
Norrie Disease
Aplasia/Hypoplasia of the lens, Hypotelorism, Hypoplasia of the iris, Deeply set eye, Microphthalmia ORPHA:649
Otopalatodigital Syndrome, Type Ii
Atrial septal defect, Dilatation of the sinus of Valsalva OMIM:304120
Microphthalmia, Syndromic 6
Microphthalmia, Anophthalmia, Retrognathia, Micrognathia OMIM:607932
Lowe Oculocerebrorenal Syndrome
Microphthalmia, Enamel hypoplasia OMIM:309000
Pallister-Killian Syndrome
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Aortic valve stenosis,... OMIM:601803
Treacher Collins Syndrome 1
Bilateral microphthalmos, Micrognathia OMIM:154500
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Hypoplasia of the iris, Microphthalmia, Hydrocephalus OMIM:175780
Townes-Brocks Syndrome
Microphthalmia ORPHA:857
Microphthalmia, Syndromic 1
Microphthalmia, Anophthalmia, Agenesis of maxillary lateral incisor 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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