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Gene: Lhfpl6 MGI:1920048

Gene Summary

Name:

LHFPL tetraspan subfamily member 6

Synonyms:

Lhfp, 2810489O06Rik

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

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	Allele	Zyg	Life Stage	P Value
anophthalmia	Lhfpl6^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal heart morphology	Lhfpl6^em1(IMPC)Mbp	HOM	Early adult	0.00
microphthalmia	Lhfpl6^em1(IMPC)Mbp	HOM	Early adult	0.00
decreased locomotor activity	Lhfpl6^em1(IMPC)Mbp	HOM	Early adult	9.64×10^-05
abnormal eye morphology	Lhfpl6^em1(IMPC)Mbp	HOM	Early adult	0.00
enlarged heart	Lhfpl6^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal skin morphology	Lhfpl6^em1(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

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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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.

Human diseases associated with Lhfpl6 (0 diseases)
Human diseases predicted to be associated with Lhfpl6 (507 diseases)

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	Matching phenotypes	Source
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Gombo Syndrome	Microphthalmia, Abnormal heart morphology	OMIM:233270
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Microphthalmia, Isolated, With Coloboma 10	Microphthalmia, Anophthalmia	OMIM:616428
Microphthalmia, Isolated, With Coloboma 5	Microphthalmia, Anophthalmia, Bilateral microphthalmos	OMIM:611638
Ethanolaminosis	Cardiomegaly	OMIM:227150
Microphthalmia, Syndromic 12	Microphthalmia, Anophthalmia, Ventricular septal defect, Hypoplastic left atrium	OMIM:615524
Microphthalmia, Isolated, With Cataract 1	Microphthalmia	OMIM:156850
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia	OMIM:616335
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia	OMIM:611038
Microphthalmia, Isolated, With Coloboma 6	Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia	OMIM:613703
Fryns Microphthalmia Syndrome	Microphthalmia, Anophthalmia	OMIM:600776
Microphthalmia, Isolated, With Coloboma 4	Microphthalmia	OMIM:251505
Premature Ovarian Failure 12	Microphthalmia	OMIM:616947
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia	OMIM:251700
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microphthalmia, Hepatomegaly	ORPHA:2432
Meckel Syndrome, Type 8	Pericardial effusion, Microphthalmia, Anophthalmia, Enlarged kidney	OMIM:613885
Mmep Syndrome	Microphthalmia, Ventricular septal defect	ORPHA:3434
Microphthalmia, Isolated 8	Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia	OMIM:615113
Adams-Oliver Syndrome 4	Atrial septal defect, Microphthalmia, Ventricular septal defect	OMIM:615297
Nanophthalmos	Microphthalmia	ORPHA:35612
Microphthalmia, Isolated 2	Microphthalmia	OMIM:610093
Nanophthalmos 4	Microphthalmia	OMIM:615972
Microphthalmia, Isolated, With Coloboma 7	Microphthalmia	OMIM:614497
Cardiomyopathy, Dilated, 1I	Dilated cardiomyopathy, Cardiomegaly	OMIM:604765
Anencephaly 2	Anophthalmia	OMIM:619452
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia	ORPHA:1574
Oculocerebrocutaneous Syndrome	Microphthalmia, Anophthalmia	OMIM:164180
Microphthalmia, Isolated, With Coloboma 3	Microphthalmia	OMIM:610092
Xeroderma Pigmentosum, Complementation Group G	Microphthalmia, Ataxia	OMIM:278780
Cataract 11, Multiple Types	Microphthalmia	OMIM:610623
Microphthalmia, Isolated 4	Microphthalmia	OMIM:613094
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Inability to walk, Anophthalmia	ORPHA:411986
Dihydropyrimidine Dehydrogenase Deficiency	Microphthalmia, Lethargy	OMIM:274270
Xk Aprosencephaly Syndrome	Atrial septal defect, Microphthalmia, Ventricular septal defect	ORPHA:3469
Cerebrooculofacioskeletal Syndrome 3	Microphthalmia	OMIM:616570
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia, Ataxia	OMIM:615771
Trisomy 13	Anophthalmia, Ventricular septal defect, Aplasia/Hypoplasia of the iris, Atrial septal defect, Mi...	ORPHA:3378
Microphthalmia, Isolated 6	Microphthalmia	OMIM:613517
Foveal Hypoplasia 2	Hypoplasia of the fovea, Microphthalmia	OMIM:609218
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Microphthalmia, Anophthalmia, Ventricular septal defect	ORPHA:77298
Triokinase And Fmn Cyclase Deficiency Syndrome	Microphthalmia, Broad-based gait, Dilated cardiomyopathy, Hepatomegaly	OMIM:618805
Facial Clefting, Oblique, 1	Microphthalmia	OMIM:600251
Cockayne Syndrome Type 2	Hepatomegaly, Anophthalmia, Ataxia, Gait disturbance, Difficulty walking	ORPHA:90322
Microcephaly-Microcornea Syndrome, Seemanova Type	Microphthalmia	ORPHA:2528
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Inability to walk, Microphthalmia, Cardiomyopathy	OMIM:613155
Congenital Toxoplasmosis	Hepatomegaly, Microphthalmia, Cardiomegaly	ORPHA:858
Congenital Varicella Syndrome	Microphthalmia	ORPHA:291
Neurooculocardiogenitourinary Syndrome	Ventricular septal defect, Cardiomegaly, Atrial septal defect, Microphthalmia, Patent foramen ovale	OMIM:618652
Congenital Primary Aphakia	Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia	ORPHA:83461
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	Atrial septal defect, Microphthalmia, Tetralogy of Fallot, Ventricular hypertrophy	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	Microphthalmia, Ventricular septal defect, Hepatomegaly	OMIM:613730
Anophthalmia Plus Syndrome	Anophthalmia	ORPHA:1104
Cataract 9, Multiple Types	Microphthalmia	OMIM:604219
Microphthalmia, Syndromic 9	Anophthalmia, Ventricular septal defect, Bilateral microphthalmos, Hypoplastic left atrium, Pulmo...	OMIM:601186
Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	ORPHA:2717
Hydrolethalus	Microphthalmia, Anophthalmia	ORPHA:2189
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Hepatomegaly, Dilated cardiomyopathy, Lethargy, Cardiomegaly	OMIM:600649
Microphthalmia, Syndromic 5	Microphthalmia, Anophthalmia, Optic nerve hypoplasia	OMIM:610125
Microphthalmia With Brain And Digit Anomalies	Microphthalmia, Anophthalmia	ORPHA:139471
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Cardiomegaly	ORPHA:88643
Cardiomyopathy, Familial Hypertrophic, 27	Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy...	OMIM:618052
Solitary Median Maxillary Central Incisor	Microphthalmia, Anophthalmia	OMIM:147250
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Microphthalmia	OMIM:267760
Cerebrooculonasal Syndrome	Anophthalmia	ORPHA:66625
Mitochondrial Complex I Deficiency, Nuclear Type 39	Atrial septal defect, Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Card...	OMIM:620135
Craniotelencephalic Dysplasia	Microphthalmia, Optic nerve hypoplasia	OMIM:218670
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Microphthalmia, Ataxia, Dysmetria	ORPHA:48431
2Q24 Microdeletion Syndrome	Microphthalmia	ORPHA:1617
Microphthalmia, Syndromic 13	Microphthalmia	OMIM:300915
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Microphthalmia	OMIM:616171
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Microphthalmia	OMIM:610023
Congenital Rubella Syndrome	Hepatomegaly, Ventricular septal defect, Splenomegaly, Aplasia/Hypoplasia of the iris, Atrial sep...	ORPHA:290
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Hepatomegaly, Lethargy, Cardiomegaly	OMIM:619064
Fanconi Anemia, Complementation Group G	Microphthalmia	OMIM:614082
Trisomy 1Q	Anophthalmia, Ventricular septal defect	ORPHA:261344
Craniotelencephalic Dysplasia	Microphthalmia, Septo-optic dysplasia	ORPHA:1528
Biemond Syndrome Type 2	Microphthalmia	ORPHA:141333
Microphthalmia, Isolated 5	Microphthalmia	OMIM:611040
Cofs Syndrome	Microphthalmia	ORPHA:1466
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Microphthalmia, Ventricular septal defect	OMIM:602501
Combined Oxidative Phosphorylation Deficiency 8	Hypertrophic cardiomyopathy, Cardiomegaly	OMIM:614096
17Q12 Microduplication Syndrome	Atrial septal defect, Microphthalmia	ORPHA:261272
Uruguay Faciocardiomusculoskeletal Syndrome	Ventricular hypertrophy, Waddling gait, Left atrial enlargement, Cardiomegaly, Cardiomyopathy, Di...	OMIM:300280
Matthew-Wood Syndrome	Microphthalmia, Anophthalmia	ORPHA:2470
Microphthalmia With Limb Anomalies	Microphthalmia, Anophthalmia	OMIM:206920
Fanconi Anemia, Complementation Group J	Microphthalmia	OMIM:609054
Oculogastrointestinal Neurodevelopmental Syndrome	Bilateral microphthalmos, Bicuspid aortic valve, Unilateral microphthalmos	OMIM:619318
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Cardiomegaly, Limb ataxia, Truncal ataxia, Hypertrophic cardiomyopathy	OMIM:619051
Congenital Myopathy 8	Cardiomegaly	OMIM:618654
Manitoba Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	OMIM:248450
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Microphthalmia, Ventricular septal defect	ORPHA:93267
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Microphthalmia	ORPHA:324416
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Cardiomegaly, Cardiomyopathy, Endocardial fibroelastosis, Lethargy, Hypertrophic ca...	OMIM:212140
Cockayne Syndrome Type 1	Hepatomegaly, Anophthalmia, Ataxia, Gait disturbance, Difficulty walking	ORPHA:90321
Ectodermal Dysplasia-Syndactyly Syndrome 2	Cardiomegaly	OMIM:613576
Attrv30M Amyloidosis	Cardiomyopathy, Cardiomegaly	ORPHA:85447
Cat-Eye Syndrome	Microphthalmia	ORPHA:195
Walker-Warburg Syndrome	Microphthalmia, Anophthalmia	ORPHA:899
Congenitally Uncorrected Transposition Of The Great Arteries	Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon...	ORPHA:860
Developmental And Epileptic Encephalopathy 1	Choreoathetosis, Microphthalmia	OMIM:308350
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Microphthalmia, Hypertrophic cardiomyopathy, Hepatomegaly	OMIM:619053
Fibular Hemimelia	Anophthalmia, Difficulty walking, Abnormal heart morphology	ORPHA:93323
Microphthalmia, Isolated, With Corectopia	Microphthalmia	OMIM:156900
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Cardiomegaly	OMIM:300886
Pierpont Syndrome	Microphthalmia	ORPHA:487825
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Ventricular septal defect, Inability to walk, Abnormal heart morphology, Atrial septal defect, Mi...	OMIM:618494
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Ataxia, Cardiomegaly, Unsteady gait, Limb ataxia, Gait ataxia, Cardiomyopathy, Gait disturbance, ...	OMIM:619259
Mitochondrial Complex I Deficiency, Nuclear Type 36	Perimembranous ventricular septal defect, Cardiomegaly	OMIM:619170
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Left ventricular hypertrophy, Microphthalmia	OMIM:613153
Osteoporosis-Pseudoglioma Syndrome	Loss of ambulation, Microphthalmia, Waddling gait	ORPHA:2788
Familial Atrial Myxoma	Pulmonic valve myxoma, Cardiac myxoma, Bacterial endocarditis, Cardiomegaly	ORPHA:615
Subaortic Stenosis-Short Stature Syndrome	Microphthalmia, Membranous subvalvular aortic stenosis, Subvalvular aortic stenosis	ORPHA:3191
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Microphthalmia	OMIM:251270
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Microphthalmia	ORPHA:1473
Microphthalmia, Syndromic 11	Microphthalmia	OMIM:614402
Pierpont Syndrome	Microphthalmia	OMIM:602342
Osteopetrosis, Autosomal Recessive 8	Splenomegaly, Hepatomegaly, Unilateral microphthalmos	OMIM:615085
Warburg Micro Syndrome 1	Microphthalmia	OMIM:600118
Microphthalmia, Syndromic 3	Optic nerve aplasia, Anophthalmia, Ventricular septal defect, Optic nerve hypoplasia, Microphthalmia	OMIM:206900
Microphthalmia, Syndromic 8	Microphthalmia	OMIM:601349
Neuraminidase Deficiency	Hepatomegaly, Cardiomegaly, Splenomegaly, Dysmetria, Cardiomyopathy	OMIM:256550
Infantile Sialic Acid Storage Disease	Splenomegaly, Hepatomegaly, Cardiomegaly	OMIM:269920
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Microphthalmia	ORPHA:1135
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Aniridia, Anophthalmia, Tricuspid valve prolapse	ORPHA:1101
Spondylo-Ocular Syndrome	Microphthalmia, Aplasia/Hypoplasia of the lens, Ventricular septal defect	ORPHA:85194
Frontonasal Dysplasia 1	Microphthalmia, Tetralogy of Fallot	OMIM:136760
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Inability to walk, Abnormal heart morphology, Gait disturbance, Difficulty walking, Microphthalmia	OMIM:618571
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Cardiomegaly, Inability to walk, Abnormal atrioventricular valve morphology, Mitral valve prolaps...	ORPHA:324410
Lissencephaly 8	Microphthalmia	OMIM:617255
Temtamy Syndrome	Microphthalmia	ORPHA:1777
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Microphthalmia, Optic nerve hypoplasia	OMIM:615181
Fixed Subaortic Stenosis	Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm...	ORPHA:3092
Developmental Delay With Variable Neurologic And Brain Abnormalities	Microphthalmia	OMIM:619694
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Ataxia, Lethargy, Cardiomegaly	ORPHA:42
Mulibrey Nanism	Hepatomegaly, Myocardial fibrosis, Pericardial constriction, Cardiomegaly	OMIM:253250
Chromosome 17Q12 Duplication Syndrome	Atrial septal defect, Microphthalmia	OMIM:614526
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Microphthalmia, Anophthalmia	OMIM:615877
Refsum Disease	Splenomegaly, Microphthalmia, Ataxia, Cardiomyopathy	ORPHA:773
Joubert Syndrome 22	Microphthalmia	OMIM:615665
Anterior Segment Dysgenesis 5	Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia	OMIM:604229
Congenital Fibrinogen Deficiency	Left ventricular hypertrophy, Microphthalmia, Right ventricular hypertrophy	ORPHA:335
Hartsfield Syndrome	Microphthalmia	ORPHA:2117
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Microphthalmia	OMIM:601794
Braddock-Carey Syndrome 2	Microphthalmia	OMIM:619981
Congenital Tricuspid Valve Dysplasia	Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri...	ORPHA:555874
Carnitine Palmitoyltransferase I Deficiency	Hepatomegaly, Lethargy, Cardiomegaly	OMIM:255120
Combined Oxidative Phosphorylation Deficiency 10	Pericardial effusion, Hypertrophic cardiomyopathy, Cardiomegaly	OMIM:614702
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Microphthalmia	ORPHA:363741
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Microphthalmia	ORPHA:2547
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Microphthalmia, Lens coloboma, Patent foramen ovale, Pulmonic stenosis	OMIM:618914
Sandestig-Stefanova Syndrome	Microphthalmia, Muscular ventricular septal defect, Perimembranous ventricular septal defect	OMIM:618804
Holoprosencephaly	Anophthalmia, Ventricular septal defect, Abnormal pulmonary valve morphology, Microphthalmia, Tet...	ORPHA:2162
Microgastria-Limb Reduction Defect Syndrome	Hepatomegaly, Anophthalmia, Atrial septal defect, Microphthalmia, Truncus arteriosus	ORPHA:2538
Deafness, X-Linked 7	Unilateral microphthalmos	OMIM:301018
Meckel Syndrome, Type 4	Atrial septal defect, Microphthalmia, Ventricular septal defect	OMIM:611134
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s...	OMIM:115197
Attrv122I Amyloidosis	Cardiomegaly, Hypertrophic cardiomyopathy, Aortic valve stenosis, Left ventricular hypertrophy, R...	ORPHA:85451
Baraitser-Winter Syndrome 2	Microphthalmia	OMIM:614583
Refsum Disease, Classic	Cardiomyopathy, Ataxia, Cardiomegaly	OMIM:266500
Rere-Related Neurodevelopmental Syndrome	Microphthalmia, Ventricular septal defect, Abnormal heart morphology	ORPHA:494344
Stevenson-Carey Syndrome	Atrial septal defect, Microphthalmia	OMIM:611961
Joubert Syndrome 21	Splenomegaly, Anophthalmia, Ataxia	OMIM:615636
Myoclonic-Astatic Epilepsy	Microphthalmia, Unsteady gait, Ataxia	ORPHA:1942
Frontonasal Dysplasia 3	Microphthalmia	OMIM:613456
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Hypertrophic cardiomyopathy, Lethargy, Cardiomegaly	OMIM:201475
Vacterl With Hydrocephalus	Microphthalmia, Anophthalmia	ORPHA:3412
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Ventricular septal defect, Ataxia, Bilateral microphthalmos, Abnormal heart morphology, Patent fo...	ORPHA:369891
Hsd10 Disease, Infantile Type	Choreoathetosis, Loss of ambulation, Hypertrophic cardiomyopathy, Cardiomegaly	ORPHA:391428
Mucopolysaccharidosis, Type Iiib	Splenomegaly, Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly	OMIM:252920
Kapur-Toriello Syndrome	Microphthalmia, Tetralogy of Fallot, Ventricular septal defect	ORPHA:2328
Fanconi Anemia, Complementation Group I	Ventricular septal defect, Optic nerve hypoplasia, Atrial septal defect, Microphthalmia, Patent f...	OMIM:609053
Microphthalmia-Brain Atrophy Syndrome	Bilateral microphthalmos	ORPHA:77299
3P25.3 Microdeletion Syndrome	Ataxia, Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Microphthalmia	ORPHA:435638
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Microphthalmia, Anophthalmia	ORPHA:2250
Coronary Arterial Fistula	Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac...	ORPHA:2041
Seckel Syndrome 2	Microphthalmia	OMIM:606744
Moebius Syndrome	Microphthalmia, Dysdiadochokinesis, Gait disturbance	OMIM:157900
Autosomal Dominant Keratitis	Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A...	ORPHA:2334
Microphthalmia, Syndromic 2	Anophthalmia, Ventricular septal defect, Dextrocardia, Phthisis bulbi, Double outlet right ventri...	OMIM:300166
Cantu Syndrome	Pericardial effusion, Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly	OMIM:239850
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Microphthalmia, Optic nerve hypoplasia	OMIM:614833
Joubert Syndrome 37	Microphthalmia, Hepatomegaly	OMIM:619185
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Microphthalmia, Ventricular septal defect, Abnormal heart morphology	ORPHA:404440
Fanconi Anemia, Complementation Group S	Microphthalmia, Ataxia	OMIM:617883
Microphthalmia With Linear Skin Defects Syndrome	Anophthalmia, Dilated cardiomyopathy, Mitral valve prolapse, Abnormal cardiac septum morphology, ...	ORPHA:2556
Baraitser-Winter Syndrome 1	Microphthalmia, Aortic valve stenosis, Bicuspid aortic valve	OMIM:243310
Idiopathic Uveal Effusion Syndrome	Microphthalmia	ORPHA:209956
Congenital Muscular Dystrophy With Cerebellar Involvement	Microphthalmia, Optic nerve hypoplasia, Cardiomyopathy	ORPHA:370959
Cornea Plana 2, Autosomal Recessive	Microphthalmia	OMIM:217300
Timothy Syndrome	Ventricular septal defect, Tetralogy of Fallot, Patent foramen ovale, Cardiomegaly	OMIM:601005
Alpha-N-Acetylgalactosaminidase Deficiency	Cardiomegaly	ORPHA:3137
Meckel Syndrome	Aplasia/Hypoplasia of the iris, Microphthalmia, Anophthalmia, Situs inversus totalis	ORPHA:564
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Atrial septal defect, Microphthalmia, Anophthalmia	ORPHA:2526
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Microphthalmia	ORPHA:231736
Anterior Segment Dysgenesis 2	Aniridia, Microphthalmia, Congenital aphakia, Anterior segment of eye aplasia	OMIM:610256
Nance-Horan Syndrome	Microphthalmia	ORPHA:627
Ring Chromosome 10 Syndrome	Microphthalmia	ORPHA:1438
Hemochromatosis, Type 1	Splenomegaly, Hepatomegaly, Cardiomyopathy, Cardiomegaly	OMIM:235200
Encephalocraniocutaneous Lipomatosis	Ventricular septal defect, Hypoplasia of the iris, Subvalvular aortic stenosis, Atrial septal def...	OMIM:613001
Cerebrooculofacioskeletal Syndrome 1	Microphthalmia	OMIM:214150
Joubert Syndrome 14	Microphthalmia, Ventricular septal defect, Ataxia	OMIM:614424
Bresek Syndrome	Microphthalmia, Optic nerve hypoplasia	ORPHA:85284
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Microphthalmia, Abnormal cardiac septum morphology	ORPHA:1352
Ritscher-Schinzel Syndrome 3	Microphthalmia, Atrioventricular canal defect	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
Bartsocas-Papas Syndrome 2	Microphthalmia	OMIM:619339
Cerebrooculonasal Syndrome	Anophthalmia, Optic nerve hypoplasia	OMIM:605627
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Buphthalmos, Microphthalmia	OMIM:212550
Isolated Right Ventricular Hypoplasia	Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig...	ORPHA:439
Oculofaciocardiodental Syndrome	Microphthalmia, Abnormal cardiac septum morphology, Mitral valve prolapse	ORPHA:2712
Complete Atrioventricular Septal Defect	Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ...	ORPHA:1329
Heart And Brain Malformation Syndrome	Microphthalmia, Ventricular septal defect	OMIM:616920
Amyloidosis, Hereditary, Transthyretin-Related	Ataxia, Cardiomegaly, Limb ataxia, Cardiomyopathy, Truncal ataxia	OMIM:105210
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia	OMIM:167730
Pseudotrisomy 13 Syndrome	Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Atrial septal de...	OMIM:264480
Cat Eye Syndrome	Ventricular septal defect, Hypoplastic left heart, Total anomalous pulmonary venous return, Pulmo...	OMIM:115470
Adams-Oliver Syndrome 2	Microphthalmia	OMIM:614219
Warburg Micro Syndrome 4	Inability to walk, Microphthalmia	OMIM:615663
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Microphthalmia	OMIM:614105
14Q22Q23 Microdeletion Syndrome	Optic nerve aplasia, Anophthalmia	ORPHA:264200
Congenital Disorder Of Glycosylation, Type Iq	Microphthalmia	OMIM:612379
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
Rodrigues Blindness	Microphthalmia	OMIM:268320
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Microphthalmia, Abnormally large globe	OMIM:615249
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Atrial septal defect, Microphthalmia	ORPHA:2728
Combined Oxidative Phosphorylation Deficiency 41	Cardiomegaly	OMIM:618838
Meckel Syndrome, Type 5	Microphthalmia	OMIM:611561
Trichothiodystrophy 4, Nonphotosensitive	Microphthalmia, Ventricular septal defect	OMIM:234050
Aorta Coarctation	Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe...	ORPHA:1457
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Microphthalmia	OMIM:152950
Charge Syndrome	Anophthalmia, Abnormal cardiac septum morphology, Abnormal aortic valve morphology, Microphthalmi...	ORPHA:138
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Microphthalmia	OMIM:300863
Holoprosencephaly 9	Microphthalmia, Anophthalmia, Optic nerve hypoplasia	OMIM:610829
Proboscis Lateralis	Microphthalmia, Anophthalmia, Ventricular septal defect, Optic nerve hypoplasia	ORPHA:141099
Monosomy 18P	Microphthalmia	ORPHA:1598
Heterotaxy, Visceral, 1, X-Linked	Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, Atrioventricular c...	OMIM:306955
Cerebrooculofacioskeletal Syndrome 4	Bilateral microphthalmos, Abnormal heart morphology	OMIM:610758
3Q29 Microduplication Syndrome	Aniridia, Microphthalmia, Ventricular septal defect	ORPHA:251038
Temtamy Syndrome	Microphthalmia	OMIM:218340
Marden-Walker Syndrome	Microphthalmia, Dextrocardia	OMIM:248700
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Hypertrophic cardiomyopathy, Ventricular septal defect, Cardiomegaly	OMIM:616897
Gaucher Disease, Type Iiic	Hepatomegaly, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve calcification,...	OMIM:231005
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Microphthalmia	ORPHA:163649
Fraser Syndrome 1	Anophthalmia, Bilateral microphthalmos, Abnormal heart morphology	OMIM:219000
Combined Oxidative Phosphorylation Deficiency 33	Left ventricular hypertrophy, Hepatomegaly, Cardiomyopathy, Cardiomegaly	OMIM:617713
Symptomatic Form Of Hfe-Related Hemochromatosis	Hepatomegaly, Cardiomegaly, Splenomegaly, Cardiomyopathy, Lethargy	ORPHA:465508
Kapur-Toriello Syndrome	Atrial septal defect, Microphthalmia, Ventricular septal defect	OMIM:244300
Warburg Micro Syndrome 3	Inability to walk, Microphthalmia	OMIM:614222
Basel-Vanagaite-Smirin-Yosef Syndrome	Atrial septal defect, Microphthalmia, Ventricular septal defect	OMIM:616449
3Q29 Microdeletion Syndrome	Microphthalmia, Gait disturbance, Subvalvular aortic stenosis	ORPHA:65286
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome...	OMIM:620066
Idiopathic Pulmonary Hemosiderosis	Hepatosplenomegaly, Hepatomegaly, Cardiomegaly	ORPHA:99931
Pelvis-Shoulder Dysplasia	Microphthalmia	OMIM:169550
Oculopalatocerebral Syndrome	Microphthalmia	OMIM:257910
Linear Skin Defects With Multiple Congenital Anomalies 3	Histiocytoid cardiomyopathy, Microphthalmia, Dilated cardiomyopathy	OMIM:300952
Exudative Vitreoretinopathy 2, X-Linked	Microphthalmia	OMIM:305390
Sandhoff Disease	Hepatosplenomegaly, Hepatomegaly, Ataxia, Cardiomegaly	OMIM:268800
Adams-Oliver Syndrome	Microphthalmia, Tetralogy of Fallot, Abnormal pulmonary valve morphology	ORPHA:974
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Inability to walk, Tip-toe gait, Right ventricular hypertrophy, Cardiomegaly	ORPHA:268
Chromosome 1Q41-Q42 Deletion Syndrome	Microphthalmia, Ventricular septal defect	OMIM:612530
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Microphthalmia	ORPHA:228390
Mosaic Trisomy 9	Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Endocardial fibroelasto...	ORPHA:99776
Xeroderma Pigmentosum, Complementation Group D	Choreoathetosis, Microphthalmia, Ataxia	OMIM:278730
Craniofaciofrontodigital Syndrome	Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, ...	ORPHA:363705
Otodental Syndrome	Microphthalmia, Lens coloboma	ORPHA:2791
Histiocytoid Cardiomyopathy	Hepatomegaly, Ventricular septal defect, Cardiomegaly, Lethargy, Microphthalmia, Congenital aphakia	ORPHA:137675
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Bilateral microphthalmos, Optic nerve hypoplasia	OMIM:607597
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Cardiomegaly	OMIM:613320
Microcephaly 20, Primary, Autosomal Recessive	Microphthalmia, Optic nerve hypoplasia	OMIM:617914
Charge Syndrome	Anophthalmia, Overriding aorta, Ventricular septal defect, Secundum atrial septal defect, Dysplas...	OMIM:214800
Beck-Fahrner Syndrome	Ventricular septal defect, Cardiomegaly	OMIM:618798
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Microphthalmia, Gait disturbance	OMIM:620098
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Microphthalmia	ORPHA:163966
Arterial Calcification, Generalized, Of Infancy, 2	Right atrial enlargement, Cardiomegaly	OMIM:614473
Curry-Jones Syndrome	Microphthalmia	ORPHA:1553
Coloboma, Ocular, Autosomal Dominant	Microphthalmia, Optic nerve aplasia	OMIM:120200
Gracile Bone Dysplasia	Aniridia, Microphthalmia	OMIM:602361
Vitreoretinochoroidopathy	Microphthalmia	OMIM:193220
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Bicuspid aortic valve, Cardiomegaly, Abnormally large globe, Mitral valve prolapse, Atrial septal...	OMIM:245600
Meckel Syndrome, Type 2	Microphthalmia	OMIM:603194
Frontofacionasal Dysplasia	Microphthalmia	ORPHA:1791
Cirrhotic Cardiomyopathy	Hepatomegaly, Left atrial enlargement, Cardiomegaly, Left ventricular hypertrophy, Right atrial e...	ORPHA:57777
Phace Association	Microphthalmia, Ventricular septal defect, Optic nerve hypoplasia	OMIM:606519
Neurodegeneration And Seizures Due To Copper Transport Defect	Lethargy, Cardiomegaly	OMIM:620306
Trichothiodystrophy 3, Photosensitive	Microphthalmia	OMIM:616395
Basel-Vanagaite-Smirin-Yosef Syndrome	Ventricular septal defect, Inability to walk, Difficulty walking, Atrial septal defect, Microphth...	ORPHA:464738
Microphthalmia, Isolated, With Coloboma 9	Microphthalmia	OMIM:615145
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Lethargy, Enlarged kidney	OMIM:608836
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia, Bilateral microphthalmos	ORPHA:2399
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Microphthalmia	OMIM:617306
Danon Disease	Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Myocardial fibrosis, Hypertrophic card...	OMIM:300257
Fanconi Anemia, Complementation Group R	Microphthalmia	OMIM:617244
Developmental And Epileptic Encephalopathy 95	Hepatomegaly, Ataxia, Cardiomegaly, Inability to walk, Gait disturbance	OMIM:618143
Chromosome 13Q33-Q34 Deletion Syndrome	Left ventricular hypertrophy, Microphthalmia, Pulmonic stenosis	OMIM:619148
Familial Aortic Dissection	Cardiomegaly	ORPHA:229
Xeroderma Pigmentosum, Complementation Group B	Microphthalmia, Ataxia	OMIM:610651
Atelis Syndrome 2	Microphthalmia, Dysmetria, Pulmonic stenosis, Supravalvar pulmonary stenosis	OMIM:620185
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Akinesia, Cardiomegaly, Splenomegaly, Hepatosplenomegaly	OMIM:608013
Double Outlet Left Ventricle	Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, ...	ORPHA:3427
Martsolf Syndrome 1	Microphthalmia, Cardiomyopathy	OMIM:212720
Steinfeld Syndrome	Microphthalmia, Abnormal heart morphology	OMIM:184705
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Buphthalmos, Microphthalmia	OMIM:616538
Norrie Disease	Hypoplasia of the iris, Microphthalmia, Buphthalmos	OMIM:310600
Fanconi Anemia, Complementation Group E	Microphthalmia, Abnormal heart morphology	OMIM:600901
Familial Exudative Vitreoretinopathy	Microphthalmia	ORPHA:891
Lymphedema-Distichiasis Syndrome	Microphthalmia, Tetralogy of Fallot, Ventricular septal defect	OMIM:153400
Naxos Disease	Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega...	OMIM:601214
Phace Syndrome	Optic nerve hypoplasia, Lens coloboma, Abnormal heart morphology, Abnormal cardiac septum morphol...	ORPHA:42775
Fryns Syndrome	Microphthalmia, Abnormal cardiac septum morphology, Tetralogy of Fallot	ORPHA:2059
Fanconi Anemia, Complementation Group A	Microphthalmia, Abnormal heart morphology	OMIM:227650
Pseudo-Torch Syndrome 3	Cardiomegaly	OMIM:618886
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Unilateral microphthalmos, Mitral valve prolapse	OMIM:618874
Ectodermal Dysplasia-Blindness Syndrome	Microphthalmia	ORPHA:1806
Focal Dermal Hypoplasia	Aniridia, Microphthalmia, Anophthalmia	OMIM:305600
Cohen Syndrome	Microphthalmia, Ventricular septal defect, Mitral valve prolapse	ORPHA:193
Mogs-Cdg	Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Atrial septal defect, Left ventricular hypertrophy	ORPHA:79330
Microphthalmia With Limb Anomalies	Microphthalmia, True anophthalmia	ORPHA:1106
Fanconi Anemia, Complementation Group F	Atrial septal defect, Microphthalmia	OMIM:603467
Fucosidosis	Hepatomegaly, Cardiomegaly	ORPHA:349
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Microphthalmia	OMIM:241410
Meckel Syndrome 14	Microphthalmia, Single ventricle	OMIM:619879
Duane-Radial Ray Syndrome	Atrial septal defect, Microphthalmia, Ventricular septal defect, Optic disc hypoplasia	OMIM:607323
Nance-Horan Syndrome	Microphthalmia	OMIM:302350
Cantú Syndrome	Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly	ORPHA:1517
Adams-Oliver Syndrome 1	Bicuspid aortic valve, Ventricular septal defect, Hypoplastic left heart, Pulmonic stenosis, Atri...	OMIM:100300
Tetraamelia-Multiple Malformations Syndrome	Microphthalmia, Septo-optic dysplasia	ORPHA:3301
Multiple Benign Circumferential Skin Creases On Limbs	Microphthalmia	ORPHA:2505
1Q21.1 Microdeletion Syndrome	Microphthalmia, Abnormal cardiac septum morphology	ORPHA:250989
Lethal Congenital Contracture Syndrome 10	Overriding aorta, Ventricular septal defect, Cardiomegaly	OMIM:617022
Fraser Syndrome	Microphthalmia, Anophthalmia	ORPHA:2052
Mosaic Trisomy 1	Microphthalmia, Ventricular septal defect	ORPHA:1692
Linear Skin Defects With Multiple Congenital Anomalies 1	Overriding aorta, Ventricular septal defect, Atrial septal defect, Microphthalmia, Histiocytoid c...	OMIM:309801
Teebi-Shaltout Syndrome	Microphthalmia, Aortic valve stenosis, Ventricular septal defect	OMIM:272950
X-Linked Dominant Chondrodysplasia Punctata	Microphthalmia	ORPHA:35173
Glycogen Storage Disease Of Heart, Lethal Congenital	Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricular hypertro...	OMIM:261740
Micro Syndrome	Microphthalmia	ORPHA:2510
Glycogen Storage Disease Ii	Splenomegaly, Hepatomegaly, Difficulty walking, Cardiomegaly	OMIM:232300
Congenital Disorder Of Glycosylation, Type It	Hepatomegaly, Dilated cardiomyopathy, Ventricular septal defect, Cardiomegaly	OMIM:614921
Focal Dermal Hypoplasia	Hypoplasia of the iris, Microphthalmia, Abnormal cardiac septum morphology, Ventricular septal de...	ORPHA:2092
Warburg Micro Syndrome 2	Microphthalmia	OMIM:614225
Joubert Syndrome 2	Microphthalmia, Ataxia	OMIM:608091
Mycophenolate Mofetil Embryopathy	Microphthalmia, Ventricular septal defect	ORPHA:268249
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Left ventricular hypertrophy, Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly	ORPHA:308552
Mucopolysaccharidosis Type 3	Hepatomegaly, Ataxia, Cardiomegaly, Splenomegaly, Loss of ambulation, Abnormal aortic valve morph...	ORPHA:581
2Q31.1 Microdeletion Syndrome	Atrial septal defect, Microphthalmia, Ventricular septal defect	ORPHA:251014
Persistent Hyperplastic Primary Vitreous	Buphthalmos, Microphthalmia, Phthisis bulbi, Macular hypoplasia	ORPHA:91495
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Bicuspid aortic valve, Optic nerve hypoplasia, Truncus arteriosus, Ventricular septal defect, Per...	ORPHA:508498
Histiocytosis-Lymphadenopathy Plus Syndrome	Hepatomegaly, Ventricular septal defect, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Mitral v...	OMIM:602782
Fucosidosis	Splenomegaly, Hepatomegaly, Spastic gait, Cardiomegaly	OMIM:230000
Abetalipoproteinemia	Hepatomegaly, Broad-based gait, Ataxia, Cardiomegaly, Dysmetria, Gait ataxia, Steppage gait	ORPHA:14
Jacobsen Syndrome	Atrial septal defect, Microphthalmia, Ventricular septal defect, Macular hypoplasia	OMIM:147791
Skin Creases, Congenital Symmetric Circumferential, 1	Microphthalmia	OMIM:156610
Galloway-Mowat Syndrome 1	Hypoplasia of the iris, Microphthalmia, Ataxia	OMIM:251300
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Buphthalmos, Microphthalmia, Phthisis bulbi	OMIM:221900
Oculodentodigital Dysplasia	Atrial septal defect, Microphthalmia, Ataxia	OMIM:164200
Lethal Acantholytic Erosive Disorder	Cardiomyopathy, Cardiomegaly	ORPHA:158687
Oculodentodigital Dysplasia, Autosomal Recessive	Microphthalmia	OMIM:257850
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Abnormal myocardium morphology, Hepatomegaly, Cardiomyopathy, Cardiomegaly	ORPHA:228308
Fanconi Anemia, Complementation Group C	Microphthalmia, Ventricular septal defect	OMIM:227645
Pelvis-Shoulder Dysplasia	Waddling gait, Bilateral microphthalmos	ORPHA:2839
Sickle Cell Disease	Splenomegaly, Hepatomegaly, Cardiomegaly	OMIM:603903
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Buphthalmos, Microphthalmia	OMIM:613150
Trisomy 18	Atrial septal defect, Microphthalmia, Ventricular septal defect	ORPHA:3380
Trichothiodystrophy 1, Photosensitive	Microphthalmia	OMIM:601675
Frontorhiny	Microphthalmia	ORPHA:391474
Microcephaly-Micromelia Syndrome	Microphthalmia	OMIM:251230
Frontonasal Dysplasia 2	Microphthalmia	OMIM:613451
Arterial Calcification, Generalized, Of Infancy, 1	Dilated cardiomyopathy, Cardiomegaly	OMIM:208000
Chondrodysplasia Punctata 2, X-Linked Dominant	Microphthalmia	OMIM:302960
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Microphthalmia	OMIM:618727
Microphthalmia, Lenz Type	Microphthalmia	ORPHA:568
8Q21.11 Microdeletion Syndrome	Microphthalmia	ORPHA:284160
Microphthalmia, Syndromic 6	Microphthalmia, Anophthalmia	OMIM:607932
Holoprosencephaly-Postaxial Polydactyly Syndrome	Microphthalmia, Abnormal cardiac septum morphology	ORPHA:2166
Cockayne Syndrome Type 3	Hepatomegaly, Splenomegaly, Unsteady gait, Cardiomyopathy, Difficulty walking, Microphthalmia	ORPHA:90324
Basal Cell Nevus Syndrome 1	Microphthalmia, Cardiac fibroma, Cardiac rhabdomyoma	OMIM:109400
Mend Syndrome	Microphthalmia, Aortic valve stenosis, Abnormal heart morphology	ORPHA:401973
Chromosome 8Q21.11 Deletion Syndrome	Microphthalmia	OMIM:614230
Absence Of The Pulmonary Artery	Cardiomegaly, Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial septal defect...	ORPHA:980
Congenital Tracheomalacia	Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous return, Abnormal hear...	ORPHA:95430
Blepharophimosis, Ptosis, And Epicanthus Inversus	Microphthalmia	OMIM:110100
Monosomy 9Q22.3	Microphthalmia, Cardiac fibroma	ORPHA:77301
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Microphthalmia, Optic nerve hypoplasia	OMIM:614643
Truncus Arteriosus	Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Abnormal heart morpholo...	ORPHA:3384
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Ataxia, Cardiomegaly, L...	OMIM:300967
Acro-Renal-Ocular Syndrome	Microphthalmia, Tetralogy of Fallot, Optic disc hypoplasia	ORPHA:959
Mucolipidosis Ii Alpha/Beta	Hepatomegaly, Cardiomegaly, Splenomegaly, Tip-toe gait, Hypertrophic cardiomyopathy, Enlarged kidney	OMIM:252500
Myhre Syndrome	Ventricular septal defect, Ataxia, Pericardial effusion, Atrial septal defect, Microphthalmia, Ao...	OMIM:139210
Branchiooculofacial Syndrome	Microphthalmia, Anophthalmia	OMIM:113620
Fanconi Anemia, Complementation Group D2	Microphthalmia, Abnormal heart morphology	OMIM:227646
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Microphthalmia, Overriding aorta, Tetralogy of Fallot	ORPHA:3186
Galloway-Mowat Syndrome 3	Microphthalmia	OMIM:617729
Stromme Syndrome	Microphthalmia, Optic nerve hypoplasia	OMIM:243605
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Microphthalmia, Complete atrioventricular canal defect, Tetralogy of Fallot	OMIM:617925
Pallister-Hall Syndrome	Microphthalmia, Ventricular septal defect	OMIM:146510
Oculoauricular Syndrome	Microphthalmia, Phthisis bulbi, Macular hypoplasia, Microphakia	OMIM:612109
Hallermann-Streiff Syndrome	Choreoathetosis, Microphthalmia	OMIM:234100
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Cardiomegaly	ORPHA:2463
Papillorenal Syndrome	Microphthalmia	OMIM:120330
Glycogen Storage Disease Due To Acid Maltase Deficiency	Hepatomegaly, Cardiomegaly, Inability to walk, Difficulty walking, Left ventricular hypertrophy, ...	ORPHA:365
Incontinentia Pigmenti	Microphthalmia, Gait disturbance	ORPHA:464
Mosaic Variegated Aneuploidy Syndrome	Atrial septal defect, Microphthalmia, Subvalvular aortic stenosis	ORPHA:1052
Ohdo Syndrome, X-Linked	Microphthalmia	OMIM:300895
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Buphthalmos, Microphthalmia, Optic nerve hypoplasia	OMIM:236670
Premature Aging Syndrome, Penttinen Type	Microphthalmia	OMIM:601812
Pierson Syndrome	Rieger anomaly, Hypoplasia of the ciliary body, Hypoplasia of the iris, Macular hypoplasia, Micro...	OMIM:609049
Familial Idiopathic Dilatation Of The Right Atrium	Hepatomegaly, Cardiomegaly, Right ventricular hypertrophy, Atrial septal dilatation, Right atrial...	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	Cardiomyopathy, Bilateral microphthalmos, Ventricular septal defect, Gait ataxia	ORPHA:33364
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Atrial septal defect, Microphthalmia, Patent foramen ovale	OMIM:620005
Fanconi Anemia	Aplasia/Hypoplasia of the iris, Abnormal cardiac septum morphology, Abnormal aortic valve morphol...	ORPHA:84
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Microphthalmia	ORPHA:85167
Cockayne Syndrome B	Hepatomegaly, Ataxia, Splenomegaly, Hypoplasia of the iris, Microphthalmia	OMIM:133540
Momo Syndrome	Bilateral microphthalmos	ORPHA:2563
Isolated Arrhinia	Microphthalmia	ORPHA:1134
Bohring-Opitz Syndrome	Inability to walk, Abnormal cardiac septum morphology, Cardiomegaly	ORPHA:97297
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Microphthalmia, Ventricular septal defect, Patent foramen ovale	OMIM:616975
22Q11.2 Deletion Syndrome	Ventricular septal defect, Abnormal pulmonary valve morphology, Splenomegaly, Abnormal aortic val...	ORPHA:567
Craniofacial Microsomia 1	Microphthalmia, Anophthalmia, Ventricular septal defect, Tetralogy of Fallot	OMIM:164210
Curry-Jones Syndrome	Microphthalmia	OMIM:601707
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Microphthalmia	ORPHA:364577
Chromosome 13Q14 Deletion Syndrome	Microphthalmia, Ventricular septal defect, Patent foramen ovale	OMIM:613884
Cousin Syndrome	Microphthalmia	OMIM:260660
Oculo-Palato-Cerebral Syndrome	Microphthalmia	ORPHA:2714
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Microphthalmia, Ventricular septal defect, Ventricular septal hypertrophy	OMIM:608670
Cockayne Syndrome	Hepatomegaly, Ataxia, Splenomegaly, Inability to walk, Progressive gait ataxia, Gait disturbance,...	ORPHA:191
Incontinentia Pigmenti	Hypoplasia of the fovea, Microphthalmia	OMIM:308300
Yunis-Varon Syndrome	Ventricular septal defect, Cardiomegaly, Bilateral microphthalmos, Cardiomyopathy, Atrial septal ...	ORPHA:3472
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hepatosplenomegaly, Hepatomegaly, Ventricular hypertrophy, Cardiomegaly	OMIM:618278
Linear Nevus Sebaceus Syndrome	Microphthalmia	ORPHA:2612
Dubowitz Syndrome	Hypoplasia of the iris, Microphthalmia	OMIM:223370
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Microphthalmia	OMIM:616300
Ogden Syndrome	Bicuspid aortic valve, Left atrial enlargement, Ventricular septal defect, Cardiomegaly, Secundum...	OMIM:300855
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Atrial septal defect, Microphthalmia, Patent foramen ovale, Right ventricular hypertrophy	OMIM:620186
Bartsocas-Papas Syndrome 1	Microphthalmia, Patent foramen ovale	OMIM:263650
Acrofrontofacionasal Dysostosis 1	Microphthalmia	OMIM:201180
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Microphthalmia, Tetralogy of Fallot	ORPHA:306542
Congenital Total Pulmonary Venous Return Anomaly	Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca...	ORPHA:99125
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Atrial septal defect, Microphthalmia, Total anomalous pulmonary venous return	OMIM:609945
Microphthalmia, Syndromic 1	Microphthalmia, Anophthalmia, Bicuspid aortic valve	OMIM:309800
Renpenning Syndrome 1	Ventricular septal defect, Situs inversus totalis, Atrial septal defect, Microphthalmia, Tetralog...	OMIM:309500
Fryns Syndrome	Atrial septal defect, Microphthalmia, Ventricular septal defect	OMIM:229850
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Bicuspid aortic valve, Cardiomegaly	ORPHA:91387
Degcags Syndrome	Hepatomegaly, Ventricular septal defect, Hepatosplenomegaly, Pulmonic stenosis, Atrial septal def...	OMIM:619488
Fontaine Progeroid Syndrome	Atrial septal defect, Bicuspid aortic valve, Abnormal heart morphology, Left ventricular hypertro...	OMIM:612289
Kenny-Caffey Syndrome, Type 2	Microphthalmia	OMIM:127000
Fanconi Anemia, Complementation Group L	Microphthalmia	OMIM:614083
Meckel Syndrome, Type 1	Splenomegaly, Microphthalmia, Abnormal cardiac septum morphology	OMIM:249000
Fraser Syndrome 2	Microphthalmia	OMIM:617666
Aicardi-Goutières Syndrome	Hepatosplenomegaly, Hypertrophic cardiomyopathy, Difficulty walking, Cardiomegaly	ORPHA:51
Paternal Uniparental Disomy Of Chromosome 6	Hepatomegaly, Ventricular septal defect, Cardiomegaly	ORPHA:96191
Rothmund-Thomson Syndrome, Type 2	Microphthalmia	OMIM:268400
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Bicuspid aortic valve, Muscular ventricular septal defect, Perimembranous ventricular septal defe...	OMIM:612474
Holoprosencephaly 1	Microphthalmia, Single ventricle	OMIM:236100
Williams Syndrome	Abnormal endocardium morphology, Overriding aorta, Bicuspid aortic valve, Ventricular septal defe...	ORPHA:904
Hallermann-Streiff Syndrome	Microphthalmia	ORPHA:2108
Treacher Collins Syndrome 1	Bilateral microphthalmos, Abnormal heart morphology	OMIM:154500
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Cardiomegaly	ORPHA:79280
Aicardi Syndrome	Microphthalmia	ORPHA:50
Beckwith-Wiedemann Syndrome	Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Cardiomyopathy, Enlarged kidney	OMIM:130650
Treacher-Collins Syndrome	Microphthalmia	ORPHA:861
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Microphthalmia	OMIM:601552
Tropical Endomyocardial Fibrosis	Hepatomegaly, Right ventricular cardiomyopathy, Left atrial enlargement, Cardiomegaly, Splenomega...	ORPHA:75565
Holoprosencephaly 7	Microphthalmia, Bilateral microphthalmos	OMIM:610828
Aicardi Syndrome	Microphthalmia	OMIM:304050
Monosomy 9P	Microphthalmia	ORPHA:261112
Oculocerebrorenal Syndrome Of Lowe	Buphthalmos, Microphthalmia	ORPHA:534
Neu-Laxova Syndrome 1	Microphthalmia, Ventricular septal defect, Patent foramen ovale, Transposition of the great arteries	OMIM:256520
Bosma Arhinia Microphthalmia Syndrome	Microphthalmia	OMIM:603457
8Q24.3 Microdeletion Syndrome	Truncus arteriosus, Optic nerve hypoplasia, Ventricular septal defect, Complete atrioventricular ...	ORPHA:508488
Roberts Syndrome	Microphthalmia	ORPHA:3103
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Buphthalmos, Microphthalmia, Hypoplasia of the retina	OMIM:253280
Monosomy 13Q14	Microphthalmia	ORPHA:1587
Hydrolethalus Syndrome 1	Microphthalmia, Complete atrioventricular canal defect, Ventricular septal defect	OMIM:236680
Mowat-Wilson Syndrome	Ventricular septal defect, Abnormal heart morphology, Pulmonic stenosis, Atrial septal defect, Mi...	OMIM:235730
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Bilateral microphthalmos, Optic nerve hypoplasia	ORPHA:468631
Neuroocular Syndrome	Hypoplasia of the fovea, Microphthalmia, Lens coloboma, Patent foramen ovale	OMIM:619539
Liver Disease, Severe Congenital	Hepatomegaly, Ventricular septal defect, Left atrial enlargement, Cardiomegaly, Splenomegaly, Dil...	OMIM:619991
Frontofacionasal Dysplasia	Microphthalmia	OMIM:229400
Skin Creases, Congenital Symmetric Circumferential, 2	Microphthalmia	OMIM:616734
Beckwith-Wiedemann Syndrome	Hepatomegaly, Cardiomegaly, Splenomegaly, Hypertrophic cardiomyopathy, Visceromegaly, Enlarged ki...	ORPHA:116
Townes-Brocks Syndrome	Abnormal pulmonary valve morphology, Abnormal cardiac septum morphology, Atrial septal defect, Mi...	ORPHA:857
Tetraamelia Syndrome 1	Microphthalmia	OMIM:273395
Proteasome-Associated Autoinflammatory Syndrome 1	Splenomegaly, Hepatomegaly, Cardiomegaly	OMIM:256040
Holoprosencephaly 2	Microphthalmia, Single ventricle	OMIM:157170
Pallister-Hall Syndrome	Atrial septal defect, Microphthalmia, Atrioventricular canal defect, Ventricular septal defect	ORPHA:672
Singleton-Merten Syndrome 1	Waddling gait, Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Subvalvular ...	OMIM:182250
Mowat-Wilson Syndrome	Broad-based gait, Bicuspid aortic valve, Ataxia, Inability to walk, Abnormal heart morphology, Ab...	ORPHA:2152
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Broad-based gait, Bicuspid aortic valve, Abnormal pulmonary valve morphology, Inability to walk, ...	ORPHA:261537
Autosomal Dominant Kenny-Caffey Syndrome	Bilateral microphthalmos	ORPHA:93325
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Broad-based gait, Bicuspid aortic valve, Ventricular septal defect, Abnormal pulmonary valve morp...	ORPHA:261552
Lowe Oculocerebrorenal Syndrome	Microphthalmia	OMIM:309000
Norrie Disease	Hypoplasia of the iris, Microphthalmia, Aplasia/Hypoplasia of the lens	ORPHA:649
Witteveen-Kolk Syndrome	Microphthalmia	OMIM:613406
Roberts-Sc Phocomelia Syndrome	Atrial septal defect, Microphthalmia, Ventricular septal defect	OMIM:268300
Generalized Arterial Calcification Of Infancy	Pericardial effusion, Ventricular hypertrophy, Myocardial calcification, Cardiomegaly	ORPHA:51608
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Hypoplasia of the iris, Microphthalmia	OMIM:175780

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 Lhfpl6

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 Lhfpl6.

No publications found that use IMPC mice or data for Lhfpl6.

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All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Lhfpl6^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Lhfpl6^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Lhfpl6^em1(IMPC)Mbp	Intra-exon deletion	Mice

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Lhfpl6 MGI:1920048

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

Human diseases caused by Lhfpl6 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data