Gene Summary

Name:
LHFPL tetraspan subfamily member 6
Synonyms:
Lhfp,  2810489O06Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
decreased locomotor activity Lhfpl6em1(IMPC)Mbp HOM Early adult 6.22×10-05
abnormal heart morphology Lhfpl6em1(IMPC)Mbp HOM Early adult 0.00
anophthalmia Lhfpl6em1(IMPC)Mbp HOM Early adult 0.00
abnormal eye morphology Lhfpl6em1(IMPC)Mbp HOM Early adult 0.00
abnormal skin morphology Lhfpl6em1(IMPC)Mbp HOM Early adult 0.00
enlarged heart Lhfpl6em1(IMPC)Mbp HOM Early adult 0.00
microphthalmia Lhfpl6em1(IMPC)Mbp HOM Early adult 0.00

Download data as:  TSV  XLS

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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.

X-ray

XRay Images Whole Body Dorso Ventral

30 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Human diseases caused by Lhfpl6 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 Lhfpl6 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
Gombo Syndrome
Abnormal heart morphology, Microphthalmia OMIM:233270
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Microphthalmia/Coloboma 10
Anophthalmia, Microphthalmia OMIM:616428
Microphthalmia/Coloboma 5
Anophthalmia, Bilateral microphthalmos, Microphthalmia OMIM:611638
Ethanolaminosis
Cardiomegaly OMIM:227150
Microphthalmia, Syndromic 12
Hypoplastic left atrium, Microphthalmia, Anophthalmia, Ventricular septal defect OMIM:615524
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Microphthalmia, Syndromic 16
Anophthalmia, Microphthalmia OMIM:611038
Microphthalmia/Coloboma 6
Hypoplasia of the fovea, Optic disc hypoplasia, Bilateral microphthalmos OMIM:613703
Microphthalmia/Coloboma 4
Microphthalmia OMIM:251505
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Hepatomegaly, Microphthalmia ORPHA:2432
Meckel Syndrome, Type 8
Pericardial effusion, Enlarged kidney, Anophthalmia, Microphthalmia OMIM:613885
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Fryns Microphthalmia Syndrome
Anophthalmia, Microphthalmia OMIM:600776
Adams-Oliver Syndrome 4
Microphthalmia, Atrial septal defect, Ventricular septal defect OMIM:615297
Microphthalmia, Isolated 8
True anophthalmia, Optic nerve hypoplasia, Anophthalmia, Microphthalmia OMIM:615113
Mmep Syndrome
Microphthalmia, Ventricular septal defect ORPHA:3434
Nanophthalmos
Microphthalmia ORPHA:35612
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Nanophthalmos 4
Microphthalmia OMIM:615972
Microphthalmia/Coloboma 7
Microphthalmia OMIM:614497
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy OMIM:604765
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Anencephaly 2
Anophthalmia OMIM:619452
Oculocerebrocutaneous Syndrome
Anophthalmia, Microphthalmia OMIM:164180
Microphthalmia/Coloboma 3
Microphthalmia OMIM:610092
Xeroderma Pigmentosum, Complementation Group G
Ataxia, Microphthalmia OMIM:278780
Microphthalmia, Isolated 4
Microphthalmia OMIM:613094
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Inability to walk, Anophthalmia ORPHA:411986
Xk Aprosencephaly Syndrome
Microphthalmia, Atrial septal defect, Ventricular septal defect ORPHA:3469
Dihydropyrimidine Dehydrogenase Deficiency
Lethargy, Microphthalmia OMIM:274270
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Ataxia, Microphthalmia OMIM:615771
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia OMIM:616570
Trisomy 13
Aplasia/Hypoplasia of the iris, Anophthalmia, Ventricular septal defect, Atrial septal defect, Mi... ORPHA:3378
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Foveal Hypoplasia 2
Hypoplasia of the fovea, Microphthalmia OMIM:609218
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Inability to walk, Cardiomyopathy, Microphthalmia OMIM:613155
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Microphthalmia, Anophthalmia, Ventricular septal defect ORPHA:77298
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Broad-based gait, Dilated cardiomyopathy, Microphthalmia OMIM:618805
Cockayne Syndrome Type 2
Difficulty walking, Anophthalmia, Gait disturbance, Ataxia, Hepatomegaly ORPHA:90322
Microcephaly-Microcornea Syndrome, Seemanova Type
Microphthalmia ORPHA:2528
Congenital Toxoplasmosis
Hepatomegaly, Cardiomegaly, Microphthalmia ORPHA:858
Facial Clefting, Oblique, 1
Microphthalmia OMIM:600251
Neurooculocardiogenitourinary Syndrome
Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Atrial septal defect, Microphthalmia OMIM:618652
Congenital Varicella Syndrome
Microphthalmia ORPHA:291
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Microphthalmia OMIM:120433
Linear Skin Defects With Multiple Congenital Anomalies 2
Tetralogy of Fallot, Ventricular hypertrophy, Atrial septal defect, Microphthalmia OMIM:300887
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia OMIM:614830
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Hepatomegaly, Microphthalmia, Ventricular septal defect OMIM:613730
Anophthalmia Plus Syndrome
Anophthalmia ORPHA:1104
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Cardiomegaly, Hepatomegaly, Lethargy, Dilated cardiomyopathy OMIM:600649
Idiopathic Uveal Effusion Syndrome
Microphthalmia ORPHA:209956
Cataract 9, Multiple Types
Microphthalmia OMIM:604219
Microphthalmia, Syndromic 9
Hypoplastic left atrium, Bilateral microphthalmos, Tetralogy of Fallot, Anophthalmia, Truncus art... OMIM:601186
Oculotrichoanal Syndrome
Anophthalmia, Microphthalmia ORPHA:2717
Hydrolethalus
Anophthalmia, Microphthalmia ORPHA:2189
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Microphthalmia, Syndromic 5
Optic nerve hypoplasia, Anophthalmia, Microphthalmia OMIM:610125
Cardiomyopathy, Familial Hypertrophic, 27
Cardiomyocyte hypertrophy, Hypertrophic cardiomyopathy, Concentric hypertrophic cardiomyopathy, E... OMIM:618052
Microphthalmia With Brain And Digit Anomalies
Anophthalmia, Microphthalmia ORPHA:139471
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Cardiomegaly, Atrial septa... OMIM:620135
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia OMIM:267760
Solitary Median Maxillary Central Incisor
Anophthalmia, Microphthalmia OMIM:147250
Craniotelencephalic Dysplasia
Optic nerve hypoplasia, Microphthalmia OMIM:218670
Cerebrooculonasal Syndrome
Anophthalmia ORPHA:66625
2Q24 Microdeletion Syndrome
Microphthalmia ORPHA:1617
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Microphthalmia OMIM:616171
Microphthalmia, Syndromic 13
Microphthalmia OMIM:300915
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Lethargy, Cardiomegaly OMIM:619064
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia OMIM:610023
Congenital Rubella Syndrome
Splenomegaly, Aplasia/Hypoplasia of the iris, Ventricular septal defect, Atrial septal defect, Mi... ORPHA:290
Fanconi Anemia, Complementation Group G
Microphthalmia OMIM:614082
Craniotelencephalic Dysplasia
Septo-optic dysplasia, Microphthalmia ORPHA:1528
Biemond Syndrome Type 2
Microphthalmia ORPHA:141333
Trisomy 1Q
Anophthalmia, Ventricular septal defect ORPHA:261344
Microphthalmia, Isolated 5
Microphthalmia OMIM:611040
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Ataxia, Dysmetria, Microphthalmia ORPHA:48431
Cofs Syndrome
Microphthalmia ORPHA:1466
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Microphthalmia, Ventricular septal defect OMIM:602501
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Cardiomyopathy, Hypertrophic cardiomyopathy, Difficulty walking, Cardiom... OMIM:300280
17Q12 Microduplication Syndrome
Atrial septal defect, Microphthalmia ORPHA:261272
Combined Oxidative Phosphorylation Deficiency 8
Hypertrophic cardiomyopathy, Cardiomegaly OMIM:614096
Fanconi Anemia, Complementation Group J
Microphthalmia OMIM:609054
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Limb ataxia, Cardiomegaly, Truncal ataxia OMIM:619051
Matthew-Wood Syndrome
Anophthalmia, Microphthalmia ORPHA:2470
Microphthalmia With Limb Anomalies
Anophthalmia, Microphthalmia OMIM:206920
Congenital Myopathy 8
Cardiomegaly OMIM:618654
Oculogastrointestinal Neurodevelopmental Syndrome
Bicuspid aortic valve, Unilateral microphthalmos, Bilateral microphthalmos OMIM:619318
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Microphthalmia, Ventricular septal defect ORPHA:93267
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Microphthalmia ORPHA:324416
Cockayne Syndrome Type 1
Difficulty walking, Anophthalmia, Gait disturbance, Ataxia, Hepatomegaly ORPHA:90321
Long-Olsen-Distelmaier Syndrome
Microspherophakia, Dilated cardiomyopathy, Secundum atrial septal defect, Ventricular septal defe... OMIM:620609
Manitoba Oculotrichoanal Syndrome
Anophthalmia, Microphthalmia OMIM:248450
Attrv30M Amyloidosis
Cardiomegaly, Cardiomyopathy ORPHA:85447
Carnitine Deficiency, Systemic Primary
Cardiomyopathy, Hypertrophic cardiomyopathy, Endocardial fibroelastosis, Cardiomegaly, Lethargy, ... OMIM:212140
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Cat-Eye Syndrome
Microphthalmia ORPHA:195
Walker-Warburg Syndrome
Anophthalmia, Microphthalmia ORPHA:899
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Hypertrophic cardiomyopathy, Hepatomegaly, Microphthalmia OMIM:619053
Congenitally Uncorrected Transposition Of The Great Arteries
Biventricular hypertrophy, Dextrotransposition of the great arteries, Abnormal pulmonary valve mo... ORPHA:860
Developmental And Epileptic Encephalopathy 1
Choreoathetosis, Microphthalmia OMIM:308350
Microphthalmia, Isolated, With Corectopia
Microphthalmia OMIM:156900
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Abnormal heart morphology, Inability to walk, Patent foramen ovale, Ventricular septal defect, At... OMIM:618494
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Perimembranous ventricular septal defect OMIM:619170
Fibular Hemimelia
Abnormal heart morphology, Difficulty walking, Anophthalmia ORPHA:93323
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly OMIM:300886
Pierpont Syndrome
Microphthalmia ORPHA:487825
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomyopathy, Limb ataxia, Gait ataxia, Cardiomegaly, Gait disturbance, Ataxia, Truncal ataxia,... OMIM:619259
Familial Atrial Myxoma
Pulmonic valve myxoma, Bacterial endocarditis, Cardiac myxoma, Cardiomegaly ORPHA:615
Osteoporosis-Pseudoglioma Syndrome
Loss of ambulation, Waddling gait, Microphthalmia ORPHA:2788
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Optic nerve hypoplasia, Situs inversus totalis, Microphthalmia OMIM:614833
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Left ventricular hypertrophy, Microphthalmia OMIM:613153
Microphthalmia, Syndromic 11
Microphthalmia OMIM:614402
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Microphthalmia OMIM:251270
Subaortic Stenosis-Short Stature Syndrome
Membranous subvalvular aortic stenosis, Subvalvular aortic stenosis, Microphthalmia ORPHA:3191
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Microphthalmia ORPHA:1473
Pierpont Syndrome
Microphthalmia OMIM:602342
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia ORPHA:1135
Warburg Micro Syndrome 1
Microphthalmia OMIM:600118
Microphthalmia, Syndromic 3
Optic nerve aplasia, Anophthalmia, Ventricular septal defect, Microphthalmia, Optic nerve hypoplasia OMIM:206900
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Tricuspid valve prolapse, Aniridia, Anophthalmia ORPHA:1101
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Unilateral microphthalmos, Splenomegaly OMIM:615085
Infantile Sialic Acid Storage Disease
Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:269920
Microphthalmia, Syndromic 8
Microphthalmia OMIM:601349
Neuraminidase Deficiency
Cardiomyopathy, Splenomegaly, Dysmetria, Cardiomegaly, Hepatomegaly OMIM:256550
Spondylo-Ocular Syndrome
Microphthalmia, Aplasia/Hypoplasia of the lens, Ventricular septal defect ORPHA:85194
Frontonasal Dysplasia 1
Tetralogy of Fallot, Microphthalmia OMIM:136760
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Abnormal heart morphology, Difficulty walking, Inability to walk, Gait disturbance, Microphthalmia OMIM:618571
Temtamy Syndrome
Microphthalmia ORPHA:1777
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Inability to walk, Mitral valve prolapse, Cardiomegaly, Steppage gait, Abn... ORPHA:324410
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Optic nerve hypoplasia, Microphthalmia OMIM:615181
Chromosome 17Q12 Duplication Syndrome
Atrial septal defect, Microphthalmia OMIM:614526
Developmental Delay With Variable Neurologic And Brain Abnormalities
Microphthalmia OMIM:619694
Fixed Subaortic Stenosis
Bacterial endocarditis, Abnormal heart morphology, Atrioventricular canal defect, Ventricular sep... ORPHA:3092
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Lethargy, Cardiomegaly, Ataxia ORPHA:42
Lissencephaly 8
Microphthalmia OMIM:617255
Mulibrey Nanism
Hepatomegaly, Cardiomegaly, Pericardial constriction, Myocardial fibrosis OMIM:253250
Anterior Segment Dysgenesis 5
Hypoplasia of the fovea, Rieger anomaly, Microphthalmia, Hypoplasia of the iris OMIM:604229
Joubert Syndrome 22
Microphthalmia OMIM:615665
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Anophthalmia, Microphthalmia OMIM:615877
Congenital Tricuspid Valve Dysplasia
Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cardiomegaly, Tricuspid valve ... ORPHA:555874
Refsum Disease
Ataxia, Splenomegaly, Cardiomyopathy, Microphthalmia ORPHA:773
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome
Microphthalmia OMIM:601794
Hartsfield Syndrome
Microphthalmia ORPHA:2117
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Braddock-Carey Syndrome 2
Microphthalmia OMIM:619981
Combined Oxidative Phosphorylation Deficiency 10
Hypertrophic cardiomyopathy, Cardiomegaly, Pericardial effusion OMIM:614702
Microgastria-Limb Reduction Defect Syndrome
Anophthalmia, Truncus arteriosus, Atrial septal defect, Microphthalmia, Hepatomegaly ORPHA:2538
Congenital Fibrinogen Deficiency
Left ventricular hypertrophy, Right ventricular hypertrophy, Microphthalmia ORPHA:335
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Muscular ventricular septal defect, Myofibe... OMIM:115197
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Microphthalmia ORPHA:363741
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Pulmonic stenosis, Lens coloboma, Patent foramen ovale, Microphthalmia OMIM:618914
Sandestig-Stefanova Syndrome
Muscular ventricular septal defect, Perimembranous ventricular septal defect, Microphthalmia OMIM:618804
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Microphthalmia ORPHA:2547
Holoprosencephaly
Tetralogy of Fallot, Abnormal pulmonary valve morphology, Anophthalmia, Ventricular septal defect... ORPHA:2162
Deafness, X-Linked 7
Unilateral microphthalmos OMIM:301018
Baraitser-Winter Syndrome 2
Microphthalmia OMIM:614583
Attrv122I Amyloidosis
Aortic valve stenosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Lef... ORPHA:85451
Meckel Syndrome, Type 4
Microphthalmia, Atrial septal defect, Ventricular septal defect OMIM:611134
Refsum Disease, Classic
Cardiomegaly, Cardiomyopathy, Ataxia OMIM:266500
Stevenson-Carey Syndrome
Atrial septal defect, Microphthalmia OMIM:611961
Myoclonic-Astatic Epilepsy
Ataxia, Unsteady gait, Microphthalmia ORPHA:1942
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Bilateral microphthalmos, Abnormal heart morphology, Patent foramen ovale, Ventricular septal def... ORPHA:369891
Rere-Related Neurodevelopmental Syndrome
Abnormal heart morphology, Microphthalmia, Ventricular septal defect ORPHA:494344
Joubert Syndrome 21
Splenomegaly, Anophthalmia, Ataxia OMIM:615636
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Cardiomegaly, Loss of ambulation, Choreoathetosis ORPHA:391428
Frontonasal Dysplasia 3
Microphthalmia OMIM:613456
Vacterl With Hydrocephalus
Anophthalmia, Microphthalmia ORPHA:3412
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Lethargy, Cardiomegaly, Hypertrophic cardiomyopathy OMIM:201475
Microphthalmia-Brain Atrophy Syndrome
Bilateral microphthalmos ORPHA:77299
Coronary Arterial Fistula
Aortic valve stenosis, Bacterial endocarditis, Abnormal heart morphology, Patent foramen ovale, C... ORPHA:2041
Fanconi Anemia, Complementation Group I
Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Microphthalmia, Optic nerv... OMIM:609053
Kapur-Toriello Syndrome
Tetralogy of Fallot, Microphthalmia, Ventricular septal defect ORPHA:2328
Congenital Primary Aphakia
Aniridia, Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Phthi... ORPHA:83461
3P25.3 Microdeletion Syndrome
Ataxia, Ventricular septal defect, Atrial septal defect, Microphthalmia, Pulmonic stenosis ORPHA:435638
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly, Splenomegaly OMIM:252920
Microphthalmia With Linear Skin Defects Syndrome
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Anophthalmia, Mitral valve prolapse, Tricusp... ORPHA:2556
Microphthalmia, Syndromic 2
Aortic valve stenosis, Anophthalmia, Mitral valve prolapse, Ventricular septal defect, Phthisis b... OMIM:300166
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Anophthalmia, Microphthalmia ORPHA:2250
Autosomal Dominant Keratitis
Bilateral microphthalmos, Aniridia, Hypoplasia of the fovea, Macular hypoplasia, Hypoplastic iris... ORPHA:2334
Moebius Syndrome
Gait disturbance, Dysdiadochokinesis, Microphthalmia OMIM:157900
Cantu Syndrome
Cardiomegaly, Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Pericardial effusion OMIM:239850
Timothy Syndrome
Tetralogy of Fallot, Cardiomegaly, Patent foramen ovale, Ventricular septal defect OMIM:601005
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Abnormal heart morphology, Microphthalmia, Ventricular septal defect ORPHA:404440
Baraitser-Winter Syndrome 1
Aortic valve stenosis, Bicuspid aortic valve, Microphthalmia OMIM:243310
Joubert Syndrome 37
Hepatomegaly, Microphthalmia OMIM:619185
Fanconi Anemia, Complementation Group S
Ataxia, Microphthalmia OMIM:617883
Congenital Muscular Dystrophy With Cerebellar Involvement
Optic nerve hypoplasia, Cardiomyopathy, Microphthalmia ORPHA:370959
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Cornea Plana 2, Autosomal Recessive
Microphthalmia OMIM:217300
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microphthalmia ORPHA:231736
Aorta Coarctation
Hypoplastic left heart, Tetralogy of Fallot, Cardiomegaly, Bicuspid aortic valve, Perimembranous ... ORPHA:1457
Meckel Syndrome
Aplasia/Hypoplasia of the iris, Situs inversus totalis, Anophthalmia, Microphthalmia ORPHA:564
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Atrial septal defect, Anophthalmia, Microphthalmia ORPHA:2526
Encephalocraniocutaneous Lipomatosis
Hypoplasia of the iris, Ventricular septal defect, Subvalvular aortic stenosis, Atrial septal def... OMIM:613001
Ring Chromosome 10 Syndrome
Microphthalmia ORPHA:1438
Seckel Syndrome 2
Microphthalmia OMIM:606744
Nance-Horan Syndrome
Microphthalmia ORPHA:627
Isolated Right Ventricular Hypoplasia
Muscular ventricular septal defect, Patent foramen ovale, Cardiomegaly, Atrial septal defect, Rig... ORPHA:439
Cerebrooculofacioskeletal Syndrome 1
Microphthalmia OMIM:214150
Hemochromatosis, Type 1
Hepatomegaly, Cardiomegaly, Splenomegaly, Cardiomyopathy OMIM:235200
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Abnormal cardiac septum morphology, Microphthalmia ORPHA:1352
Anterior Segment Dysgenesis 2
Microphthalmia, Aniridia, Anterior segment of eye aplasia, Congenital aphakia OMIM:610256
Joubert Syndrome 14
Microphthalmia, Ataxia, Ventricular septal defect OMIM:614424
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Lethargy, Cardiomegaly OMIM:255120
Bresek Syndrome
Optic nerve hypoplasia, Microphthalmia ORPHA:85284
Ritscher-Schinzel Syndrome 3
Atrioventricular canal defect, Microphthalmia OMIM:619135
Fetal Alcohol Syndrome
Atrial septal defect, Microphthalmia ORPHA:1915
Anterior Segment Dysgenesis 7
Buphthalmos, Microphthalmia OMIM:269400
Cerebrooculofacioskeletal Syndrome 2
Microphthalmia OMIM:610756
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Buphthalmos, Microphthalmia OMIM:212550
Cerebrooculonasal Syndrome
Anophthalmia, Optic nerve hypoplasia OMIM:605627
Complete Atrioventricular Septal Defect
Primum atrial septal defect, Displacement of the papillary muscles, Abnormal cardiac atrium morph... ORPHA:1329
Amyloidosis, Hereditary Systemic 1
Cardiomyopathy, Limb ataxia, Cardiomegaly, Ataxia, Truncal ataxia OMIM:105210
Bartsocas-Papas Syndrome 2
Microphthalmia OMIM:619339
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia OMIM:167730
Oculofaciocardiodental Syndrome
Abnormal cardiac septum morphology, Mitral valve prolapse, Microphthalmia ORPHA:2712
Heart And Brain Malformation Syndrome
Microphthalmia, Ventricular septal defect OMIM:616920
Cat Eye Syndrome
Hypoplastic left heart, Total anomalous pulmonary venous return, Tetralogy of Fallot, Ventricular... OMIM:115470
Adams-Oliver Syndrome 2
Microphthalmia OMIM:614219
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Dilated cardiomyopathy, Transposition of the great arteries, Atrial septal defect, Microphthalmia... OMIM:253800
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly OMIM:618838
Pseudotrisomy 13 Syndrome
Complete atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Dextroca... OMIM:264480
Warburg Micro Syndrome 4
Inability to walk, Microphthalmia OMIM:615663
14Q22Q23 Microdeletion Syndrome
Optic nerve aplasia, Anophthalmia ORPHA:264200
Congenital Disorder Of Glycosylation, Type Iq
Microphthalmia OMIM:612379
Ciliary Dyskinesia, Primary, 53
Situs inversus totalis, Patent foramen ovale, Cardiomegaly, Perimembranous ventricular septal def... OMIM:620642
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Abnormally large globe, Microphthalmia OMIM:615249
Rodrigues Blindness
Microphthalmia OMIM:268320
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Microphthalmia OMIM:301108
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Microphthalmia OMIM:614105
Meckel Syndrome, Type 5
Microphthalmia OMIM:611561
Trichothiodystrophy 4, Nonphotosensitive
Microphthalmia, Ventricular septal defect OMIM:234050
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Atrial septal defect, Microphthalmia ORPHA:2728
Heterotaxy, Visceral, 1, X-Linked
Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Hepatomegaly, Hy... OMIM:306955
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Microphthalmia OMIM:300863
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Microphthalmia OMIM:152950
Monosomy 18P
Microphthalmia ORPHA:1598
Temtamy Syndrome
Microphthalmia OMIM:218340
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypertrophic cardiomyopathy, Cardiomegaly, Ventricular septal defect OMIM:616897
3Q29 Microduplication Syndrome
Microphthalmia, Aniridia, Ventricular septal defect ORPHA:251038
Cerebrooculofacioskeletal Syndrome 4
Abnormal heart morphology, Bilateral microphthalmos OMIM:610758
Proboscis Lateralis
Microphthalmia, Optic nerve hypoplasia, Anophthalmia, Ventricular septal defect ORPHA:141099
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Hepatosplenomegaly, Cardiomegaly ORPHA:99931
Marden-Walker Syndrome
Dextrocardia, Microphthalmia OMIM:248700
Charge Syndrome
Tetralogy of Fallot, Anophthalmia, Abnormal aortic valve morphology, Abnormal cardiac septum morp... ORPHA:138
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Cardiomyopathy OMIM:617713
Gaucher Disease, Type Iiic
Aortic valve calcification, Splenomegaly, Mitral stenosis, Cardiomegaly, Mitral valve calcificati... OMIM:231005
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Microphthalmia ORPHA:163649
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Secundum atrial septal defect, Inability to walk, Partial atrioventricular canal defect, Ventricu... OMIM:620066
Kapur-Toriello Syndrome
Microphthalmia, Atrial septal defect, Ventricular septal defect OMIM:244300
Symptomatic Form Of Hfe-Related Hemochromatosis
Cardiomyopathy, Splenomegaly, Cardiomegaly, Lethargy, Hepatomegaly ORPHA:465508
Fraser Syndrome 1
Abnormal heart morphology, Anophthalmia, Bilateral microphthalmos OMIM:219000
Warburg Micro Syndrome 3
Inability to walk, Microphthalmia OMIM:614222
Pelvis-Shoulder Dysplasia
Microphthalmia OMIM:169550
Basel-Vanagaite-Smirin-Yosef Syndrome
Microphthalmia, Atrial septal defect, Ventricular septal defect OMIM:616449
3Q29 Microdeletion Syndrome
Gait disturbance, Subvalvular aortic stenosis, Microphthalmia ORPHA:65286
Oculopalatocerebral Syndrome
Microphthalmia OMIM:257910
Linear Skin Defects With Multiple Congenital Anomalies 3
Dilated cardiomyopathy, Histiocytoid cardiomyopathy, Microphthalmia OMIM:300952
Exudative Vitreoretinopathy 2, X-Linked
Microphthalmia OMIM:305390
Sandhoff Disease
Hepatomegaly, Hepatosplenomegaly, Cardiomegaly, Ataxia OMIM:268800
Histiocytoid Cardiomyopathy
Microphthalmia, Ventricular septal defect, Cardiomegaly, Lethargy, Congenital aphakia, Hepatomegaly ORPHA:137675
Adams-Oliver Syndrome
Tetralogy of Fallot, Abnormal pulmonary valve morphology, Microphthalmia ORPHA:974
Chromosome 1Q41-Q42 Deletion Syndrome
Microphthalmia, Ventricular septal defect OMIM:612530
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Cardiomegaly, Tip-toe gait, Right ventricular hypertrophy, Inability to walk ORPHA:268
Craniofaciofrontodigital Syndrome
Aortic valve stenosis, Abnormal heart valve morphology, Ventricular septal defect, Cardiomegaly, ... ORPHA:363705
Xeroderma Pigmentosum, Complementation Group D
Ataxia, Choreoathetosis, Microphthalmia OMIM:278730
Mosaic Trisomy 9
Abnormal heart valve morphology, Endocardial fibroelastosis, Ventricular septal defect, Atrial se... ORPHA:99776
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Microphthalmia ORPHA:228390
Otodental Syndrome
Lens coloboma, Microphthalmia ORPHA:2791
Cirrhotic Cardiomyopathy
Cardiomegaly, Left atrial enlargement, Left ventricular hypertrophy, Hepatomegaly, Right atrial e... ORPHA:57777
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly OMIM:613320
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Gait disturbance, Microphthalmia OMIM:620098
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Bilateral microphthalmos, Optic nerve hypoplasia OMIM:607597
Microcephaly 20, Primary, Autosomal Recessive
Optic nerve hypoplasia, Microphthalmia OMIM:617914
Beck-Fahrner Syndrome
Cardiomegaly, Ventricular septal defect OMIM:618798
Charge Syndrome
Secundum atrial septal defect, Tetralogy of Fallot, Unilateral microphthalmos, Anophthalmia, Vent... OMIM:214800
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Microphthalmia ORPHA:163966
Arterial Calcification, Generalized, Of Infancy, 2
Cardiomegaly, Right atrial enlargement OMIM:614473
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Abnormally large globe, Mitral valve prolapse, Patent foramen ovale, Cardiomegaly, Bicuspid aorti... OMIM:245600
Curry-Jones Syndrome
Microphthalmia ORPHA:1553
Gracile Bone Dysplasia
Aniridia, Microphthalmia OMIM:602361
Vitreoretinochoroidopathy
Microphthalmia OMIM:193220
Garg-Mishra Progeroid Syndrome
Microphthalmia OMIM:620601
Microphthalmia/Coloboma 12
Optic nerve aplasia, Microphthalmia OMIM:120200
Fanconi Anemia, Complementation Group N
Microphthalmia, Atrial septal defect, Ventricular septal defect OMIM:610832
Frontofacionasal Dysplasia
Microphthalmia ORPHA:1791
Basel-Vanagaite-Smirin-Yosef Syndrome
Difficulty walking, Inability to walk, Ventricular septal defect, Atrial septal defect, Microphth... ORPHA:464738
Meckel Syndrome, Type 2
Microphthalmia OMIM:603194
Neurodegeneration And Seizures Due To Copper Transport Defect
Cardiomegaly, Lethargy OMIM:620306
Phace Association
Microphthalmia, Optic nerve hypoplasia, Ventricular septal defect OMIM:606519
Trichothiodystrophy 3, Photosensitive
Microphthalmia OMIM:616395
Danon Disease
Myocardial necrosis, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Myocardia... OMIM:300257
Microphthalmia/Coloboma 9
Microphthalmia OMIM:615145
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Dilated cardiomyopathy, Cardiomegaly, Lethargy, Hepatomegaly, Enlarged kidney OMIM:608836
Fanconi Anemia, Complementation Group R
Microphthalmia OMIM:617244
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Microphthalmia OMIM:617306
Developmental And Epileptic Encephalopathy 95
Inability to walk, Cardiomegaly, Gait disturbance, Ataxia, Hepatomegaly OMIM:618143
Nasopalpebral Lipoma-Coloboma Syndrome
Bilateral microphthalmos, Microphthalmia ORPHA:2399
Xeroderma Pigmentosum, Complementation Group B
Ataxia, Microphthalmia OMIM:610651
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Holoprosencephaly 9
Optic nerve hypoplasia, Anophthalmia, Microphthalmia OMIM:610829
Martsolf Syndrome 1
Cardiomyopathy, Microphthalmia OMIM:212720
Chromosome 13Q33-Q34 Deletion Syndrome
Left ventricular hypertrophy, Pulmonic stenosis, Microphthalmia OMIM:619148
Atelis Syndrome 2
Dysmetria, Supravalvar pulmonary stenosis, Pulmonic stenosis, Microphthalmia OMIM:620185
Gaucher Disease, Perinatal Lethal
Hepatosplenomegaly, Akinesia, Splenomegaly, Cardiomegaly, Hepatomegaly OMIM:608013
Double Outlet Left Ventricle
Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, Pulmonary valve atresia, Doubl... ORPHA:3427
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Buphthalmos, Microphthalmia OMIM:616538
Familial Exudative Vitreoretinopathy
Microphthalmia ORPHA:891
Norrie Disease
Hypoplasia of the iris, Buphthalmos, Microphthalmia OMIM:310600
Fanconi Anemia, Complementation Group E
Abnormal heart morphology, Microphthalmia OMIM:600901
Naxos Disease
Dilated cardiomyopathy, Abnormal heart morphology, Right ventricular cardiomyopathy, Cardiomegaly... OMIM:601214
Lymphedema-Distichiasis Syndrome
Tetralogy of Fallot, Microphthalmia, Ventricular septal defect OMIM:153400
Fryns Syndrome
Tetralogy of Fallot, Abnormal cardiac septum morphology, Microphthalmia ORPHA:2059
Fucosidosis
Hepatomegaly, Cardiomegaly ORPHA:349
Phace Syndrome
Abnormal heart morphology, Tetralogy of Fallot, Abnormal cardiac septum morphology, Microphthalmi... ORPHA:42775
Steinfeld Syndrome
Abnormal heart morphology, Microphthalmia OMIM:184705
Pseudo-Torch Syndrome 3
Cardiomegaly OMIM:618886
Mogs-Cdg
Hepatosplenomegaly, Cardiomegaly, Left ventricular hypertrophy, Atrial septal defect, Hepatomegaly ORPHA:79330
Fanconi Anemia, Complementation Group A
Abnormal heart morphology, Microphthalmia OMIM:227650
Ectodermal Dysplasia-Blindness Syndrome
Microphthalmia ORPHA:1806
Cohen Syndrome
Microphthalmia, Mitral valve prolapse, Ventricular septal defect ORPHA:193
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Microphthalmia OMIM:241410
Fanconi Anemia, Complementation Group F
Atrial septal defect, Microphthalmia OMIM:603467
Focal Dermal Hypoplasia
Aniridia, Anophthalmia, Microphthalmia OMIM:305600
Meckel Syndrome 14
Microphthalmia, Single ventricle OMIM:619879
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Unilateral microphthalmos, Mitral valve prolapse OMIM:618874
Microphthalmia With Limb Anomalies
True anophthalmia, Microphthalmia ORPHA:1106
Nance-Horan Syndrome
Microphthalmia OMIM:302350
Duane-Radial Ray Syndrome
Microphthalmia, Optic disc hypoplasia, Atrial septal defect, Ventricular septal defect OMIM:607323
Cantú Syndrome
Hypertrophic cardiomyopathy, Cardiomegaly, Abnormal heart valve morphology ORPHA:1517
Glycogen Storage Disease Of Heart, Lethal Congenital
Cardiomyopathy, Biventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly, Pericardial... OMIM:261740
Multiple Benign Circumferential Skin Creases On Limbs
Microphthalmia ORPHA:2505
1Q21.1 Microdeletion Syndrome
Abnormal cardiac septum morphology, Microphthalmia ORPHA:250989
Adams-Oliver Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Ventricular septal defect, Bi... OMIM:100300
Tetraamelia-Multiple Malformations Syndrome
Septo-optic dysplasia, Microphthalmia ORPHA:3301
Lethal Congenital Contracture Syndrome 10
Cardiomegaly, Overriding aorta, Ventricular septal defect OMIM:617022
Mucopolysaccharidosis Type 3
Splenomegaly, Abnormal aortic valve morphology, Abnormal mitral valve morphology, Cardiomegaly, L... ORPHA:581
Mosaic Trisomy 1
Microphthalmia, Ventricular septal defect ORPHA:1692
Linear Skin Defects With Multiple Congenital Anomalies 1
Histiocytoid cardiomyopathy, Ventricular septal defect, Overriding aorta, Atrial septal defect, M... OMIM:309801
Joubert Syndrome 2
Ataxia, Microphthalmia OMIM:608091
X-Linked Dominant Chondrodysplasia Punctata
Microphthalmia ORPHA:35173
Teebi-Shaltout Syndrome
Aortic valve stenosis, Microphthalmia, Ventricular septal defect OMIM:272950
Micro Syndrome
Microphthalmia ORPHA:2510
Focal Dermal Hypoplasia
Microphthalmia, Hypoplasia of the iris, Abnormal cardiac septum morphology, Ventricular septal de... ORPHA:2092
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Dilated cardiomyopathy, Cardiomegaly, Ventricular septal defect OMIM:614921
Persistent Hyperplastic Primary Vitreous
Phthisis bulbi, Macular hypoplasia, Buphthalmos, Microphthalmia ORPHA:91495
Warburg Micro Syndrome 2
Microphthalmia OMIM:614225
2Q31.1 Microdeletion Syndrome
Microphthalmia, Atrial septal defect, Ventricular septal defect ORPHA:251014
Glycogen Storage Disease Ii
Hepatomegaly, Difficulty walking, Cardiomegaly, Splenomegaly OMIM:232300
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Hypertrophic cardiomyopathy ORPHA:308552
Fraser Syndrome
Anophthalmia, Microphthalmia ORPHA:2052
Mycophenolate Mofetil Embryopathy
Microphthalmia, Ventricular septal defect ORPHA:268249
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Tetralogy of Fallot, Atrioventricular canal defect, Truncus arteriosus, Ventricular septal defect... ORPHA:508498
Abetalipoproteinemia
Broad-based gait, Gait ataxia, Dysmetria, Cardiomegaly, Steppage gait, Ataxia, Hepatomegaly ORPHA:14
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Phthisis bulbi, Buphthalmos, Microphthalmia OMIM:221900
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatosplenomegaly, Splenomegaly, Mitral valve prolapse, Ventricular septal defect, Cardiomegaly,... OMIM:602782
Oculodentodigital Dysplasia
Ataxia, Atrial septal defect, Microphthalmia OMIM:164200
Skin Creases, Congenital Symmetric Circumferential, 1
Microphthalmia OMIM:156610
Lethal Acantholytic Erosive Disorder
Cardiomegaly, Cardiomyopathy ORPHA:158687
Jacobsen Syndrome
Microphthalmia, Macular hypoplasia, Atrial septal defect, Ventricular septal defect OMIM:147791
Galloway-Mowat Syndrome 1
Ataxia, Hypoplasia of the iris, Microphthalmia OMIM:251300
Sickle Cell Disease
Cardiomegaly, Hepatomegaly, Splenomegaly OMIM:603903
Oculodentodigital Dysplasia, Autosomal Recessive
Microphthalmia OMIM:257850
Interatrial Communication
Right ventricular dilatation, Secundum atrial septal defect, Cardiomegaly, Sinus venosus atrial s... ORPHA:1478
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Cardiomegaly, Abnormal myocardium morphology, Cardiomyopathy ORPHA:228308
Fucosidosis
Hepatomegaly, Spastic gait, Cardiomegaly, Splenomegaly OMIM:230000
Pelvis-Shoulder Dysplasia
Bilateral microphthalmos, Waddling gait ORPHA:2839
Fanconi Anemia, Complementation Group C
Microphthalmia, Ventricular septal defect OMIM:227645
Trichothiodystrophy 1, Photosensitive
Microphthalmia OMIM:601675
Frontonasal Dysplasia 2
Microphthalmia OMIM:613451
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Buphthalmos, Microphthalmia OMIM:613150
Microcephaly-Micromelia Syndrome
Microphthalmia OMIM:251230
Microphthalmia, Lenz Type
Microphthalmia ORPHA:568
Trisomy 18
Microphthalmia, Atrial septal defect, Ventricular septal defect ORPHA:3380
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Microphthalmia OMIM:618727
Frontorhiny
Microphthalmia ORPHA:391474
Arterial Calcification, Generalized, Of Infancy, 1
Cardiomegaly, Dilated cardiomyopathy OMIM:208000
Cockayne Syndrome Type 3
Cardiomyopathy, Difficulty walking, Splenomegaly, Microphthalmia, Hepatomegaly, Unsteady gait ORPHA:90324
Congenital Tracheomalacia
Abnormal heart morphology, Tetralogy of Fallot, Ventricular septal defect, Cardiomegaly, Atrial s... ORPHA:95430
Chondrodysplasia Punctata 2, X-Linked Dominant
Microphthalmia OMIM:302960
8Q21.11 Microdeletion Syndrome
Microphthalmia ORPHA:284160
Basal Cell Nevus Syndrome 1
Cardiac rhabdomyoma, Cardiac fibroma, Microphthalmia OMIM:109400
Microphthalmia, Syndromic 6
Anophthalmia, Microphthalmia OMIM:607932
Mend Syndrome
Aortic valve stenosis, Abnormal heart morphology, Microphthalmia ORPHA:401973
Mucolipidosis Ii Alpha/Beta
Tip-toe gait, Hypertrophic cardiomyopathy, Splenomegaly, Cardiomegaly, Hepatomegaly, Enlarged kidney OMIM:252500
Absence Of The Pulmonary Artery
Abnormal heart morphology, Tetralogy of Fallot, Patent foramen ovale, Truncus arteriosus, Cardiom... ORPHA:980
Holoprosencephaly-Postaxial Polydactyly Syndrome
Abnormal cardiac septum morphology, Microphthalmia ORPHA:2166
Chromosome 8Q21.11 Deletion Syndrome
Microphthalmia OMIM:614230
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy, Patent foramen ova... OMIM:300967
Myhre Syndrome
Aortic valve stenosis, Ataxia, Ventricular septal defect, Atrial septal defect, Microphthalmia, P... OMIM:139210
Monosomy 9Q22.3
Cardiac fibroma, Microphthalmia ORPHA:77301
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Optic nerve hypoplasia, Microphthalmia OMIM:614643
Oculoauricular Syndrome
Macular hypoplasia, Microphakia, Phthisis bulbi, Microphthalmia OMIM:612109
Acro-Renal-Ocular Syndrome
Tetralogy of Fallot, Optic disc hypoplasia, Microphthalmia ORPHA:959
Truncus Arteriosus
Abnormal heart morphology, Tetralogy of Fallot, Abnormal heart valve morphology, Truncus arterios... ORPHA:3384
Galloway-Mowat Syndrome 3
Microphthalmia OMIM:617729
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Cardiomegaly ORPHA:2463
Hallermann-Streiff Syndrome
Choreoathetosis, Microphthalmia OMIM:234100
Branchiooculofacial Syndrome
Anophthalmia, Microphthalmia OMIM:113620
Fanconi Anemia, Complementation Group D2
Abnormal heart morphology, Microphthalmia OMIM:227646
Incontinentia Pigmenti
Gait disturbance, Microphthalmia ORPHA:464
Stromme Syndrome
Optic nerve hypoplasia, Microphthalmia OMIM:243605
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Tetralogy of Fallot, Overriding aorta, Microphthalmia ORPHA:3186
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Tetralogy of Fallot, Complete atrioventricular canal defect, Microphthalmia OMIM:617925
Mosaic Variegated Aneuploidy Syndrome
Subvalvular aortic stenosis, Atrial septal defect, Microphthalmia ORPHA:1052
Papillorenal Syndrome
Microphthalmia OMIM:120330
Glycogen Storage Disease Due To Acid Maltase Deficiency
Difficulty walking, Hypertrophic cardiomyopathy, Inability to walk, Cardiomegaly, Left ventricula... ORPHA:365
Ohdo Syndrome, X-Linked
Microphthalmia OMIM:300895
Blepharophimosis, Ptosis, And Epicanthus Inversus
Microphthalmia OMIM:110100
Premature Aging Syndrome, Penttinen Type
Microphthalmia OMIM:601812
Pallister-Hall Syndrome
Microphthalmia, Ventricular septal defect OMIM:146510
Cockayne Syndrome B
Hypoplasia of the iris, Microphthalmia, Splenomegaly, Ataxia, Hepatomegaly OMIM:133540
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Buphthalmos, Optic nerve hypoplasia, Microphthalmia OMIM:236670
Pierson Syndrome
Hypoplasia of the iris, Rieger anomaly, Macular hypoplasia, Hypoplasia of the ciliary body, Micro... OMIM:609049
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Atrial septal defect, Patent foramen ovale, Microphthalmia OMIM:620005
Fanconi Anemia
Hypertrophic cardiomyopathy, Tetralogy of Fallot, Aplasia/Hypoplasia of the iris, Abnormal aortic... ORPHA:84
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Microphthalmia ORPHA:85167
Familial Idiopathic Dilatation Of The Right Atrium
Cardiomegaly, Hepatomegaly, Right atrial enlargement, Atrial septal dilatation, Right ventricular... ORPHA:1677
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Microphthalmia ORPHA:1236
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia, Phthisis bulbi, Ventricular septal defect OMIM:259770
Trichothiodystrophy
Gait ataxia, Bilateral microphthalmos, Cardiomyopathy, Ventricular septal defect ORPHA:33364
Momo Syndrome
Bilateral microphthalmos ORPHA:2563
Bohring-Opitz Syndrome
Cardiomegaly, Abnormal cardiac septum morphology, Inability to walk ORPHA:97297
Isolated Arrhinia
Microphthalmia ORPHA:1134
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Microphthalmia, Patent foramen ovale, Ventricular septal defect OMIM:616975
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Cardiomegaly, Patent foramen ovale, Inability to walk OMIM:620371
Craniofacial Microsomia 1
Tetralogy of Fallot, Microphthalmia, Anophthalmia, Ventricular septal defect OMIM:164210
Cockayne Syndrome
Ataxia, Difficulty walking, Inability to walk, Splenomegaly, Progressive gait ataxia, Gait distur... ORPHA:191
Curry-Jones Syndrome
Microphthalmia OMIM:601707
22Q11.2 Deletion Syndrome
Tetralogy of Fallot, Abnormal pulmonary valve morphology, Splenomegaly, Abnormal aortic valve mor... ORPHA:567
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Microphthalmia ORPHA:364577
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Microphthalmia, Ventricular septal hypertrophy, Ventricular septal defect OMIM:608670
Oculo-Palato-Cerebral Syndrome
Microphthalmia ORPHA:2714
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Microphthalmia OMIM:608940
Chromosome 13Q14 Deletion Syndrome
Microphthalmia, Patent foramen ovale, Ventricular septal defect OMIM:613884
Cousin Syndrome
Microphthalmia OMIM:260660
Dubowitz Syndrome
Hypoplasia of the iris, Microphthalmia OMIM:223370
Yunis-Varon Syndrome
Cardiomyopathy, Bilateral microphthalmos, Tetralogy of Fallot, Ventricular septal defect, Cardiom... ORPHA:3472
Incontinentia Pigmenti
Hypoplasia of the fovea, Microphthalmia OMIM:308300
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Microphthalmia OMIM:616300
Linear Nevus Sebaceus Syndrome
Microphthalmia ORPHA:2612
Ogden Syndrome
Secundum atrial septal defect, Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Bic... OMIM:300855
Acrofrontofacionasal Dysostosis 1
Microphthalmia OMIM:201180
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatomegaly, Ventricular hypertrophy, Hepatosplenomegaly, Cardiomegaly OMIM:618278
Renpenning Syndrome 1
Tetralogy of Fallot, Situs inversus totalis, Ventricular septal defect, Atrial septal defect, Mic... OMIM:309500
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Total anomalous pulmonary venous return, Atrial septal defect, Microphthalmia OMIM:609945
Bartsocas-Papas Syndrome 1
Patent foramen ovale, Microphthalmia OMIM:263650
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Right ventricular hypertrophy, Atrial septal defect, Patent foramen ovale, Microphthalmia OMIM:620186
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Tetralogy of Fallot, Microphthalmia ORPHA:306542
Congenital Total Pulmonary Venous Return Anomaly
Hypoplastic left heart, Mixed total anomalous pulmonary venous connection, Atrial situs ambiguous... ORPHA:99125
Microphthalmia, Syndromic 1
Bicuspid aortic valve, Anophthalmia, Microphthalmia OMIM:309800
Fryns Syndrome
Microphthalmia, Atrial septal defect, Ventricular septal defect OMIM:229850
Degcags Syndrome
Hepatosplenomegaly, Patent foramen ovale, Ventricular septal defect, Dysplastic pulmonary valve, ... OMIM:619488
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Cardiomegaly, Bicuspid aortic valve ORPHA:91387
Kenny-Caffey Syndrome, Type 2
Microphthalmia OMIM:127000
Fontaine Progeroid Syndrome
Abnormal heart morphology, Bicuspid aortic valve, Left ventricular hypertrophy, Atrial septal def... OMIM:612289
Fanconi Anemia, Complementation Group L
Microphthalmia OMIM:614083
Hallermann-Streiff Syndrome
Microphthalmia ORPHA:2108
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Cardiomegaly, Ventricular septal defect ORPHA:96191
Williams Syndrome
Ataxia, Hypertrophic cardiomyopathy, Tetralogy of Fallot, Gait imbalance, Aplasia/Hypoplasia of t... ORPHA:904
Aicardi-Goutières Syndrome
Hypertrophic cardiomyopathy, Difficulty walking, Hepatosplenomegaly, Cardiomegaly ORPHA:51
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly ORPHA:79280
Fraser Syndrome 2
Microphthalmia OMIM:617666
Rothmund-Thomson Syndrome, Type 2
Microphthalmia OMIM:268400
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Muscular ventricular septal defect, Truncus arteriosus, Bicuspid aortic valve, Perimembranous ven... OMIM:612474
Meckel Syndrome, Type 1
Splenomegaly, Abnormal cardiac septum morphology, Microphthalmia OMIM:249000
Holoprosencephaly 1
Microphthalmia, Single ventricle OMIM:236100
Treacher Collins Syndrome 1
Abnormal heart morphology, Bilateral microphthalmos OMIM:154500
Beckwith-Wiedemann Syndrome
Pancreatic hyperplasia, Cardiomyopathy, Cardiomegaly, Hepatomegaly, Enlarged kidney OMIM:130650
Traboulsi Syndrome
Microphthalmia OMIM:601552
Aicardi Syndrome
Microphthalmia ORPHA:50
Treacher-Collins Syndrome
Microphthalmia ORPHA:861
Tropical Endomyocardial Fibrosis
Restrictive cardiomyopathy, Endocardial fibrosis, Coronary artery stenosis, Right ventricular car... ORPHA:75565
Holoprosencephaly 7
Bilateral microphthalmos, Microphthalmia OMIM:610828
Aicardi Syndrome
Microphthalmia OMIM:304050
Autoinflammatory Disease, Systemic, With Vasculitis
Hepatomegaly, Hepatosplenomegaly, Cardiomegaly, Splenomegaly OMIM:620376
Monosomy 9P
Microphthalmia ORPHA:261112
Oculocerebrorenal Syndrome Of Lowe
Buphthalmos, Microphthalmia ORPHA:534
Neu-Laxova Syndrome 1
Microphthalmia, Transposition of the great arteries, Patent foramen ovale, Ventricular septal defect OMIM:256520
Bosma Arhinia Microphthalmia Syndrome
Microphthalmia OMIM:603457
8Q24.3 Microdeletion Syndrome
Bilateral microphthalmos, Abnormal heart morphology, Atrioventricular canal defect, Complete atri... ORPHA:508488
Roberts Syndrome
Microphthalmia ORPHA:3103
Monosomy 13Q14
Microphthalmia ORPHA:1587
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Bilateral microphthalmos, Optic nerve hypoplasia ORPHA:468631
Skin Creases, Congenital Symmetric Circumferential, 2
Microphthalmia OMIM:616734
Hydrolethalus Syndrome 1
Microphthalmia, Complete atrioventricular canal defect, Ventricular septal defect OMIM:236680
Neuroocular Syndrome 1