Gene Summary

Name:
low density lipoprotein receptor-related protein 1
Synonyms:
b2b1554Clo,  CD91,  A2mr

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
abnormal lens morphology Lrp1tm1.1(KOMP)Wtsi HET   Late adult 8.64×10-05
abnormal embryo size Lrp1tm1.1(KOMP)Wtsi HOM E12.5 0.00
increased heart weight Lrp1tm1.1(KOMP)Wtsi HET Early adult 7.88×10-05
hemorrhage Lrp1tm1.1(KOMP)Wtsi HOM E12.5 0.00
preweaning lethality, complete penetrance Lrp1tm1.1(KOMP)Wtsi HOM   Early adult 0.00
abnormal forebrain morphology Lrp1tm1.1(KOMP)Wtsi HOM E12.5 0.00
abnormal craniofacial morphology Lrp1tm1.1(KOMP)Wtsi HOM E12.5 0.00
abnormal limb bud morphology Lrp1tm1.1(KOMP)Wtsi HOM E12.5 0.00
increased circulating alkaline phosphatase level Lrp1tm1.1(KOMP)Wtsi HET   Early adult 1.82×10-05
microphthalmia Lrp1tm1.1(KOMP)Wtsi HOM E12.5 0.00

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland  Section images heterozygote 100% (2 of 2)
Aorta  Section images heterozygote 100% (2 of 2)
Brain  Section images heterozygote 100% (2 of 2)
Brainstem  Section images heterozygote 100% (2 of 2)
Cartilage tissue  Section images heterozygote 100% (2 of 2)
Cerebellum  Section images heterozygote 100% (2 of 2)
Cerebral cortex  Section images heterozygote 100% (2 of 2)
Epididymis  Section images heterozygote 50% (1 of 2)
Esophagus  Section images heterozygote 100% (2 of 2)
Eye  Section images heterozygote 100% (2 of 2)
Heart  Section images heterozygote 100% (2 of 2)
Hippocampus  Section images heterozygote 100% (2 of 2)
Hypothalamus  Section images heterozygote 100% (2 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Large intestine  Section images heterozygote 100% (2 of 2)
Liver  Section images heterozygote 100% (2 of 2)
Lung  Section images heterozygote 100% (2 of 2)
Lymph node  Section images heterozygote 100% (2 of 2)
Mammary gland  Section images heterozygote 50% (1 of 2)
Midbrain  Section images heterozygote 100% (2 of 2)
Olfactory lobe  Section images heterozygote 100% (2 of 2)
Ovary  Section images heterozygote 50% (1 of 2)
Oviduct  Section images heterozygote 50% (1 of 2)
Pancreas  Section images heterozygote 100% (2 of 2)
Peripheral nervous system  Section images heterozygote 100% (2 of 2)
Pituitary gland  Section images heterozygote 100% (2 of 2)
Skin  Section images heterozygote 100% (2 of 2)
Small intestine  Section images heterozygote 100% (2 of 2)
Spinal cord  Section images heterozygote 100% (2 of 2)
Spleen  Section images heterozygote 100% (2 of 2)
Stomach  Section images heterozygote 100% (2 of 2)
Striatum  Section images heterozygote 100% (2 of 2)
Submandibular gland  Section images heterozygote 100% (2 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Thalamus  Section images heterozygote 100% (2 of 2)
Trachea  Section images heterozygote 100% (2 of 2)
Urinary bladder  Section images heterozygote 100% (2 of 2)
Uterus  Section images heterozygote 50% (1 of 2)
Vascular system  Section images heterozygote 100% (2 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote Not available
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Vesicular gland N/A heterozygote Not available
White adipose tissue N/A heterozygote 0.0% (0 of 2)

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Embryo N/A heterozygote 100% (2 of 2)
Embryo N/A homozygote Ambiguous
Brain N/A heterozygote 50% (1 of 2)
Brain N/A homozygote Ambiguous
Dorsal root ganglion N/A heterozygote 0.0% (0 of 1)
N/A Ambiguous
Ear N/A heterozygote 0.0% (0 of 2)
Ear N/A homozygote Ambiguous
Eye N/A heterozygote 0.0% (0 of 2)
Eye N/A homozygote Ambiguous
Footplate N/A heterozygote 0.0% (0 of 2)
Footplate N/A homozygote Ambiguous
Forebrain N/A heterozygote 0.0% (0 of 2)
Forebrain N/A homozygote Ambiguous
Forelimb N/A heterozygote 0.0% (0 of 2)
Forelimb N/A homozygote Ambiguous
Fronto-nasal process N/A heterozygote Ambiguous
N/A Ambiguous
Handplate N/A heterozygote 0.0% (0 of 2)
Handplate N/A homozygote Ambiguous
Head N/A heterozygote 100% (2 of 2)
Head N/A homozygote Ambiguous
Heart N/A heterozygote 0.0% (0 of 2)
Heart N/A homozygote Ambiguous
Hindbrain N/A heterozygote 50% (1 of 2)
Hindbrain N/A homozygote Ambiguous
Hindlimb N/A heterozygote 0.0% (0 of 2)
Hindlimb N/A homozygote Ambiguous
Liver N/A heterozygote 0.0% (0 of 2)
Liver N/A homozygote Ambiguous
Lung N/A heterozygote 0.0% (0 of 2)
Lung N/A homozygote Ambiguous
Mandibular process N/A heterozygote 0.0% (0 of 2)
Mandibular process N/A homozygote Ambiguous
Maxillary process N/A heterozygote 0.0% (0 of 2)
Maxillary process N/A homozygote Ambiguous
Midbrain N/A heterozygote 0.0% (0 of 2)
Midbrain N/A homozygote Ambiguous
Nose N/A heterozygote 0.0% (0 of 1)
N/A Ambiguous
Oral cavity N/A heterozygote 0.0% (0 of 2)
Oral cavity N/A homozygote Ambiguous
Skin N/A heterozygote 50% (1 of 2)
Skin N/A homozygote Ambiguous
Spinal cord N/A heterozygote 0.0% (0 of 1)
N/A Ambiguous
Tail somite N/A heterozygote 0.0% (0 of 2)
Tail somite N/A homozygote Ambiguous
Tail N/A heterozygote 0.0% (0 of 2)
Tail N/A homozygote Ambiguous

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
epididymis Unavailable
esophagus 0.0%
eye 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
submandibular gland 0.0%
testis 0.0%
thalamus 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
urinary bladder
uterus 0.0%
vascular system 0.0%
vesicular gland Unavailable
white adipose tissue 0.0%

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 0.0%
dorsal root ganglion Ambiguous
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
fronto-nasal process Ambiguous
handplate 0.0%
head 0.0%
heart 0.0%
hindbrain Ambiguous
hindlimb 0.0%
liver Ambiguous
lung 0.0%
mandibular process 0.0%
maxillary process Ambiguous
midbrain 0.0%
nose Ambiguous
oral cavity 0.0%
skin Ambiguous
spinal cord Ambiguous
tail Ambiguous
tail somite group Ambiguous

Associated Images

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

Combined SHIRPA and Dysmorphology

Images

6 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Forepaw

10 Images

Adult LacZ

LacZ Images Section

39 Images

Combined SHIRPA and Dysmorphology

Images

6 Images

Gross Morphology Embryo E12.5

Images

6 Images

Sleep Wake

Wake state (bmp file)

11 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Eye Morphology

Images Ophthalmoscopy

2 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Embryo LacZ

LacZ images wholemount

12 Images

Eye Morphology

Images Slit Lamp

2 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Eye Morphology

Images Ophthalmoscopy

2 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

Electrocardiogram (ECG)

Waveform Image

11 Images

Human diseases caused by Lrp1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Lrp1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Atrophoderma Vermiculata
Heart block ORPHA:79100
Keratosis Pilaris Atrophicans
OMIM:604093
Developmental Dysplasia Of The Hip 3
OMIM:620690

The table below shows human diseases predicted to be associated to Lrp1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Ectopia Lentis 2, Isolated, Autosomal Recessive
Ectopia lentis OMIM:225100
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 29
Cataract OMIM:115800
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Cataract 4, Multiple Types
Developmental cataract OMIM:115700
Cataract 13 With Adult I Phenotype
Developmental cataract OMIM:116700
Cataract 37
Developmental cataract OMIM:614422
Cataract 45
Developmental cataract OMIM:616851
Cataract 38
Developmental cataract OMIM:614691
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Cochleosaccular Degeneration With Progressive Cataracts
Progressive cataract OMIM:120040
Corneal Dystrophy, Band-Shaped
Band-shaped corneal dystrophy OMIM:217500
Corneal dystrophy, lisch epithelial
Corneal dystrophy OMIM:300778
Omphalocele
Omphalocele ORPHA:660
Cataract 44
Developmental cataract OMIM:616509
Muscle Cramps, Familial
Elevated circulating creatine kinase concentration OMIM:158400
Isolated Asymptomatic Elevation Of Creatine Phosphokinase
Elevated circulating creatine kinase concentration ORPHA:206599
Cramps, Familial Adolescent
Elevated circulating creatine kinase concentration OMIM:218050
Gastroschisis
Gastroschisis, Abdominal wall defect OMIM:230750
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Glaucoma-Ectopia Lentis-Microspherophakia-Stiff Joints-Short Stature Syndrome
Ectopia lentis ORPHA:2084
8p23.1 deletion syndrome
Congenital diaphragmatic hernia, Atrial septal defect, Atrioventricular canal defect, Abnormal he... DECIPHER:39
Omphalocele, X-Linked
Omphalocele OMIM:310980
Omphalocele, Autosomal
Omphalocele OMIM:164750
Cataract 12, Multiple Types
Progressive cataract, Developmental cataract OMIM:611597
Corneal Dystrophy, Groenouw Type I
Cataract, Nodular corneal dystrophy, Granular corneal dystrophy, Punctate corneal dystrophy OMIM:121900
Pupillary Membrane, Persistence Of
Developmental cataract, Persistent pupillary membrane, Megalocornea OMIM:178900
Trichomegaly
Cataract OMIM:190330
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormal circulating enzyme concentration ORPHA:2843
Fetal Encasement Syndrome
Congenital diaphragmatic hernia, Tetralogy of Fallot, Omphalocele OMIM:613630
Cataract 42
Cataract, Developmental cataract OMIM:115900
Cornea Plana 1, Autosomal Dominant
Flat cornea OMIM:121400
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
Ethanolaminosis
Cardiomegaly OMIM:227150
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal dystrophy, Corneal opacity OMIM:609140
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Glaucoma 3, Primary Congenital, D
Primary congenital glaucoma, Ectopia lentis, Corneal opacity OMIM:613086
Epidermolysis Bullosa With Diaphragmatic Hernia
Congenital diaphragmatic hernia OMIM:226735
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy, Elevated circulating creatine kinase concentration OMIM:604765
Non-Syndromic Metopic Craniosynostosis
Omphalocele ORPHA:3366
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Microcornea, Aniridia OMIM:106230
Omphalocele-Cleft Palate Syndrome, Lethal
Omphalocele OMIM:258320
Hernia, Double Inguinal
Inguinal hernia OMIM:142350
Diaphragmatic Hernia, Congenital
Congenital diaphragmatic hernia OMIM:142340
Diaphragmatic Hernia 3
Congenital diaphragmatic hernia OMIM:610187
Corneal Dystrophy, Punctiform And Polychromatic Pre-Descemet
Posterior corneal stroma punctiform multicolored opacities OMIM:619871
Diaphragmatic Hernia 5, X-Linked
Congenital diaphragmatic hernia OMIM:306950
Central Cloudy Dystrophy Of Francois
Corneal dystrophy, Central corneal dystrophy OMIM:217600
Schnyder Corneal Dystrophy
Corneal dystrophy, Crystalline corneal dystrophy OMIM:121800
Dermoids Of Cornea
Corneal opacity OMIM:304730
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Congenital diaphragmatic hernia, Abnormal heart morphology OMIM:614100
Corneal Dystrophy, Endothelial, X-Linked
Band keratopathy, Corneal dystrophy, Corneal opacity OMIM:300779
Pseudodiastrophic Dysplasia
Omphalocele ORPHA:85174
Neuronal Intestinal Pseudoobstruction
Congenital diaphragmatic hernia, Abnormal cardiac septum morphology ORPHA:99811
Cataract-Microcornea Syndrome
Microcornea, Corneal dystrophy, Corneal opacity, Cataract, Iris coloboma ORPHA:1377
Cutis Laxa-Marfanoid Syndrome
Congenital diaphragmatic hernia, Abnormal heart valve morphology, Flexion contracture ORPHA:171719
Microphthalmia/Coloboma 3
Cataract, Iris coloboma OMIM:610092
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive
Distal lower limb muscle weakness, Inguinal hernia, Thenar muscle atrophy, Fiber type grouping, I... OMIM:619903
Hereditary Continuous Muscle Fiber Activity
Congenital diaphragmatic hernia, Type 1 muscle fiber predominance ORPHA:972
Isolated Anencephaly
Congenital diaphragmatic hernia, Omphalocele ORPHA:563609
Fetal Valproate Spectrum Disorder
Omphalocele ORPHA:1906
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Congenital diaphragmatic hernia, Omphalocele ORPHA:2141
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Congenital diaphragmatic hernia, Abnormality of the diaphragm, Omphalocele OMIM:601163
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Cataract 10, Multiple Types
Developmental cataract, Posterior Y-sutural cataract, Zonular cataract, Nuclear cataract OMIM:600881
Cataract 47
Cataract, Microcornea OMIM:612018
Gombo Syndrome
Microphthalmia, Radial deviation of finger, Clinodactyly, Brachydactyly OMIM:233270
Polydactyly-Myopia Syndrome
Femoral hernia, Inguinal hernia ORPHA:2917
Cataract 1, Multiple Types
Posterior subcapsular cataract, Nuclear cataract, Microcornea, Pulverulent cataract OMIM:116200
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Hypothyroidism, Congenital, Nongoitrous, 4
Umbilical hernia, Macroglossia, Omphalocele OMIM:275100
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Diastasis recti, Omphalocele, Abnormal heart morphology, Umbilical hernia, Ventricular septal defect ORPHA:254534
Microphthalmia, Syndromic 12
Congenital diaphragmatic hernia, Hypoplastic left atrium, Ventricular septal defect OMIM:615524
Donnai-Barrow Syndrome
Congenital diaphragmatic hernia, Omphalocele, Ventricular septal defect, Umbilical hernia ORPHA:2143
3-Methylglutaconic Aciduria, Type Iv
Biventricular hypertrophy, Subvalvular aortic stenosis, Inguinal hernia OMIM:250951
Persistent Mullerian Duct Syndrome, Types I And Ii
Inguinal hernia OMIM:261550
Nphp3-Related Meckel-Like Syndrome
Abnormal liver parenchyma morphology, Abnormal biliary tract morphology, Abnormality of the pancreas ORPHA:3032
Cataract 8, Multiple Types
Nuclear cataract, Developmental cataract OMIM:115665
46,Xx Sex Reversal 5
Ventricular septal defect, Secundum atrial septal defect, Aplasia of the left hemidiaphragm, Hypo... OMIM:618901
Cataract, Age-Related Nuclear
Nuclear cataract OMIM:601371
Cataract 18
Nuclear cataract OMIM:610019
Cataract 41
Nuclear cataract OMIM:116400
Cataract 3, Multiple Types
Cerulean cataract, Developmental cataract, Nuclear pulverulent cataract, Sutural cataract OMIM:601547
Acrocallosal Syndrome
Congenital diaphragmatic hernia, Inguinal hernia ORPHA:36
Cataract 22, Multiple Types
Nuclear cataract, Developmental cataract OMIM:609741
Anterior Segment Dysgenesis 8
Microphakia, Iris transillumination defect, Iridodonesis, Corneal stromal edema, Corneal opacity,... OMIM:617319
Miller-Dieker Syndrome
Omphalocele ORPHA:531
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Gastroschisis, Ventricular septal defect, Hypoplastic left heart ORPHA:2476
Aniridia-Intellectual Disability Syndrome
Cataract, Ectopia lentis, Aniridia ORPHA:1068
Rhiny
Inguinal hernia OMIM:180360
Iris Pigment Layer, Cleavage Of
Cataract OMIM:147610
Proximal Myotonic Myopathy
Cataract ORPHA:606
2q33.1 deletion syndrome
Inguinal hernia DECIPHER:51
Acalvaria
Omphalocele ORPHA:945
Exfoliation Syndrome
Mydriasis, Phakodonesis, Iris hypoperfusion, Anisocoria, Pigment deposition in the trabecular mes... OMIM:177650
Pericardial And Diaphragmatic Defect
Congenital diaphragmatic hernia, Aplasia of the left hemidiaphragm, Abnormal heart morphology, Te... ORPHA:2847
Kyrle Disease
Posterior subcapsular cataract OMIM:149500
Cataract 43
Posterior subcapsular cataract OMIM:616279
Schisis Association
Congenital diaphragmatic hernia, Omphalocele ORPHA:63862
Colonic Atresia
Gastroschisis, Omphalocele ORPHA:1198
Linear Skin Defects With Multiple Congenital Anomalies 2
Congenital diaphragmatic hernia, Atrial septal defect, Ventricular hypertrophy, Tetralogy of Fallot OMIM:300887
Cataract 50 With Or Without Glaucoma
Cataract, Persistent pupillary membrane OMIM:620253
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Testicular Anomalies With Or Without Congenital Heart Disease
Tetralogy of Fallot, Inguinal hernia OMIM:615542
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Ventricular septal defect, Omphalocele OMIM:601357
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Ventricular septal defect, Omphalocele ORPHA:93267
Greig Cephalopolysyndactyly Syndrome
Atrial septal defect, Inguinal hernia, Omphalocele, Camptodactyly of toe, Abnormal heart morpholo... OMIM:175700
Thoracoabdominal Syndrome
Congenital diaphragmatic hernia, Ectopia cordis, Transposition of the great arteries, Ventral her... OMIM:313850
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Congenital diaphragmatic hernia, Ventricular septal defect, Tetralogy of Fallot ORPHA:1166
Hypothyroidism, Congenital, Nongoitrous, 6
Macroglossia, Omphalocele OMIM:614450
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Coffin-Siris Syndrome 3
Central diaphragmatic hernia, Inguinal hernia, Abnormal heart morphology, Umbilical hernia, Macro... OMIM:614608
Microphthalmia/Coloboma 6
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Greig Cephalopolysyndactyly Syndrome
Congenital diaphragmatic hernia, Umbilical hernia ORPHA:380
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Overriding aorta, Atrial septal defect, Ventricular septal defect, Omphalocele OMIM:601927
Cataract 39, Multiple Types
Lamellar cataract, Developmental cataract, Anterior polar cataract OMIM:615188
Gillessen-Kaesbach-Nishimura Syndrome
Congenital diaphragmatic hernia, Abnormal heart morphology, Flexion contracture, Omphalocele OMIM:263210
Cataract 23, Multiple Types
Lamellar cataract, Microcornea, Nuclear cataract OMIM:610425
Right Atrial Isomerism
Situs inversus totalis, Transposition of the great arteries, Dextrocardia, Inguinal hernia, Total... OMIM:208530
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Distal 7Q11.23 Microduplication Syndrome
Congenital diaphragmatic hernia ORPHA:261102
Congenital Diaphragmatic Hernia
Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the diaphragm ORPHA:2140
Cataract 5, Multiple Types
Anterior polar cataract, Zonular cataract, Lamellar cataract, Nuclear cataract, Pulverulent cataract OMIM:116800
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Inguinal hernia, Camptodactyly, Mitral valve prolapse, Small hypothenar eminence, Small thenar em... OMIM:211960
Corneal Dystrophy, Fuchs Endothelial, 1
Corneal degeneration, Corneal stromal edema, Corneal dystrophy, Descemet Membrane Folds, Corneal ... OMIM:136800
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Congenital diaphragmatic hernia ORPHA:438134
Non-Syndromic Posterior Hypospadias
Congenital diaphragmatic hernia, Omphalocele ORPHA:95706
Cardiac Diverticulum
Aortic valve stenosis, Abnormal heart morphology, Mitral valve prolapse, Umbilical hernia, Left v... ORPHA:1686
Serkal Syndrome
Congenital diaphragmatic hernia, Ventricular septal defect, Pulmonic stenosis ORPHA:139466
Congenital Factor X Deficiency
Prolonged prothrombin time, Spontaneous hematomas, Gastrointestinal hemorrhage, Post-partum hemor... ORPHA:328
Cataract 32, Multiple Types
Anterior polar cataract OMIM:115650
Distal Duplication 15Q
Congenital muscular torticollis, Camptodactyly of finger, Omphalocele ORPHA:1707
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Hypoalbuminemia ORPHA:88643
Aniridia 2
Cataract, Lens subluxation, Aniridia, Iris coloboma OMIM:617141
Cooper-Jabs Syndrome
Congenital diaphragmatic hernia, Camptodactyly of finger, Ventricular septal defect, Umbilical he... ORPHA:1488
Boomerang Dysplasia
Aplasia/Hypoplasia of the abdominal wall musculature, Omphalocele ORPHA:1263
Trigonocephaly 1
Omphalocele OMIM:190440
Megalocornea
Corneal arcus, Iris transillumination defect, Iridodonesis, Astigmatism, Mosaic corneal dystrophy... OMIM:309300
Cerebrooculofacioskeletal Syndrome 3
Intrauterine growth retardation, Microphthalmia, Rocker bottom foot, Talipes equinovarus OMIM:616570
Microphthalmia/Coloboma 4
Microphthalmia OMIM:251505
Corneal Dystrophy, Fuchs Endothelial, 8
Corneal dystrophy, Corneal guttata OMIM:615523
Pentalogy Of Cantrell
Congenital diaphragmatic hernia, Omphalocele, Abnormal pericardium morphology, Tetralogy of Fallo... ORPHA:1335
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Prune belly, Omphalocele OMIM:601389
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Congenital Varicella Syndrome
Intrauterine growth retardation, Microphthalmia, Micromelia ORPHA:291
Kagami-Ogata Syndrome
Inguinal hernia, Diastasis recti, Omphalocele, Pulmonic stenosis, Flexion contracture, Atrial sep... OMIM:608149
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Parachute mitral valve, Patent foramen ovale, Omphalocele, Tetralogy of Fallot, Double outlet rig... OMIM:618316
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Ferguson-Bonni Neurodevelopmental Syndrome
Congenital diaphragmatic hernia, Patent foramen ovale, Coronary-pulmonary artery fistula OMIM:619699
Cataract 31, Multiple Types
Anterior subcapsular cataract, Posterior subcapsular cataract, Nuclear cataract OMIM:605387
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Congenital diaphragmatic hernia, Atrioventricular canal defect, Abnormal aortic valve morphology,... ORPHA:1120
Cataract 30, Multiple Types
Pulverulent cataract, Diffuse nuclear cataract, Posterior polar cataract OMIM:116300
Donnai-Barrow Syndrome
Congenital diaphragmatic hernia, Omphalocele, Diaphragmatic eventration, Umbilical hernia, Ventri... OMIM:222448
Microphthalmia, Isolated 4
Postaxial polydactyly, Microphthalmia OMIM:613094
Emanuel Syndrome
Congenital diaphragmatic hernia, Torticollis, Inguinal hernia, Truncus arteriosus, Pulmonic steno... OMIM:609029
Bladder Exstrophy
Umbilical hernia, Omphalocele, Inguinal hernia, Bladder exstrophy ORPHA:93930
Ectopia Lentis Et Pupillae
Iris transillumination defect, Persistent pupillary membrane, Ectopia lentis, Ectopia pupillae, C... OMIM:225200
Constricting Bands, Congenital
Ectopia cordis, Bladder exstrophy, Gastroschisis, Omphalocele OMIM:217100
Jansen-De Vries Syndrome
Bicuspid aortic valve, Ventricular septal defect, Central diaphragmatic hernia OMIM:617450
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Craniorachischisis
Congenital diaphragmatic hernia, Omphalocele ORPHA:63260
Adams-Oliver Syndrome 4
Microphthalmia, Absent middle phalanx of the 3rd toe, Aplasia of the distal phalanges of the toes... OMIM:615297
Caudal Duplication
Omphalocele ORPHA:1756
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Ventricular septal defect, Omphalocele OMIM:617895
Gastroschisis
Gastroschisis ORPHA:2368
Tonne-Kalscheuer Syndrome
Congenital diaphragmatic hernia, Abnormal heart morphology OMIM:300978
X-Linked Ehlers-Danlos Syndrome
Hernia, Inguinal hernia, Umbilical hernia ORPHA:75497
Microphthalmia/Coloboma 5
Bilateral microphthalmos, Microphthalmia, Anophthalmia OMIM:611638
Cataract 15, Multiple Types
Lamellar cataract, Cortical cataract, Nuclear cataract OMIM:615274
Cataract 33, Multiple Types
Lamellar cataract, Cortical cataract, Nuclear cataract OMIM:611391
Peters Anomaly
Developmental glaucoma, Central opacification of the cornea, Subcapsular cataract, Thinning of De... ORPHA:708
Microphthalmia, Syndromic 9
Congenital diaphragmatic hernia, Inguinal hernia, Hypoplastic left atrium, Truncus arteriosus, Pu... OMIM:601186
Heart Defects, Congenital, And Other Congenital Anomalies
Congenital diaphragmatic hernia, Perimembranous ventricular septal defect, Transposition of the g... OMIM:600001
Anterior Segment Dysgenesis 1
Ocular anterior segment dysgenesis, Microcornea, Posterior polar cataract, Opacification of the c... OMIM:107250
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Cataract, Microcornea OMIM:619082
Anterior Segment Dysgenesis 7
Ocular anterior segment dysgenesis, Microcornea, Corneal opacity, Sclerocornea, Cataract, Buphtha... OMIM:269400
Nanophthalmos
Microphthalmia ORPHA:35612
Halperin-Birk Syndrome
Congenital diaphragmatic hernia, Perimembranous ventricular septal defect, Inguinal hernia, Flexi... OMIM:618651
Trisomy 1Q
Congenital diaphragmatic hernia, Camptodactyly of finger, Ventricular septal defect, Omphalocele ORPHA:261344
Lethal Congenital Contracture Syndrome 10
Torticollis, Ventricular septal defect, Omphalocele, Increased variability in muscle fiber diamet... OMIM:617022
Cataract 20, Multiple Types
Lamellar cataract, Cortical cataract, Nuclear cataract, Sutural cataract OMIM:116100
Autosomal Recessive Spondylocostal Dysostosis
Congenital diaphragmatic hernia, Inguinal hernia, Camptodactyly of finger, Umbilical hernia, Anom... ORPHA:2311
Diaphragmatic Hernia 2
Congenital diaphragmatic hernia, Agenesis of the diaphragm OMIM:222400
Microphthalmia/Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Myopia 28, Autosomal Recessive
Cataract OMIM:619781
Robinow Syndrome, Autosomal Recessive 2
Bicuspid aortic valve, Ventral hernia, Camptodactyly, Omphalocele OMIM:618529
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Congenital diaphragmatic hernia, Inguinal hernia ORPHA:2063
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Corneal Endothelial Dystrophy
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... OMIM:217700
Emanuel Syndrome
Congenital diaphragmatic hernia, Inguinal hernia, Truncus arteriosus, Ventricular septal defect, ... ORPHA:96170
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Chromosome 15Q25 Deletion Syndrome
Congenital diaphragmatic hernia, Dextrocardia, Inguinal hernia, Coronary artery fistula, Ventricu... OMIM:614294
Xp22.13P22.2 Duplication Syndrome
Congenital diaphragmatic hernia, Umbilical hernia ORPHA:284180
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Omphalocele, Mitral valve prolapse, Bicuspid aortic valve, Atrial septal defect, Ventricular sept... ORPHA:371428
Nanophthalmos 4
Microphthalmia OMIM:615972
Multicentric Carpotarsal Osteolysis Syndrome
Congenital diaphragmatic hernia OMIM:166300
Microphthalmia/Coloboma 7
Microphthalmia OMIM:614497
Hepatoportal Sclerosis
Abnormal liver parenchyma morphology, Jaundice, Elevated circulating hepatic transaminase concent... ORPHA:64743
Teebi Hypertelorism Syndrome 1
Atrial septal defect, Ventricular septal defect, Omphalocele OMIM:145420
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia ORPHA:2432
Heterotaxy, Visceral, 1, X-Linked
Transposition of the great arteries, Atrioventricular canal defect, Dextrocardia, Patent foramen ... OMIM:306955
Triploidy
Abnormal cardiac septum morphology, Macroglossia, Omphalocele ORPHA:3376
Mmep Syndrome
Split foot, Microphthalmia, Triphalangeal thumb ORPHA:3434
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Pseudotrisomy 13 Syndrome
Tricuspid atresia, Dextrocardia, Omphalocele, Atrial septal defect, Ventricular septal defect, Co... OMIM:264480
15Q24 Microdeletion Syndrome
Congenital diaphragmatic hernia, Hernia, Abnormal heart morphology ORPHA:94065
Carpenter Syndrome 1
Transposition of the great arteries, Camptodactyly, Omphalocele, Pulmonic stenosis, Tetralogy of ... OMIM:201000
Citrullinemia, Type Ii, Adult-Onset
Pancreatitis, Portal inflammation, Hepatocellular carcinoma, Elevated circulating alanine aminotr... OMIM:603471
Lowry-Maclean Syndrome
Congenital diaphragmatic hernia, Atrioventricular canal defect, Inguinal hernia ORPHA:2409
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Umbilical hernia, Neoplasm of the heart, Omphalocele ORPHA:2241
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Inguinal hernia, Diastasis recti, Wrist flexion contracture, Camptodactyly, Omphalocele, Flexion ... ORPHA:254528
Congenital Heart Defects, Multiple Types, 6
Transposition of the great arteries, Total anomalous pulmonary venous return, Pulmonic stenosis, ... OMIM:613854
Arterial Tortuosity Syndrome
Congenital diaphragmatic hernia, Inguinal hernia, Ventricular hypertrophy, Aortic valve stenosis,... OMIM:208050
Craniofrontonasal Dysplasia
Congenital diaphragmatic hernia, Camptodactyly of finger ORPHA:1520
Meacham Syndrome
Congenital diaphragmatic hernia, Situs inversus totalis, Transposition of the great arteries, Ven... ORPHA:3097
Cebalid Syndrome
Congenital diaphragmatic hernia OMIM:618774
Aniridia And Absent Patella
Cataract, Aniridia OMIM:106220
Immune Thrombocytopenia
Purpura, Gastrointestinal hemorrhage, Petechiae, Gingival bleeding, Epistaxis, Cerebral hemorrhag... ORPHA:3002
Cornea Guttata With Anterior Polar Cataracts
Anterior polar cataract OMIM:121390
Fryns Microphthalmia Syndrome
Microphthalmia, Neural tube defect, Anophthalmia OMIM:600776
Cataract 24
Anterior lenticonus, Anterior polar cataract OMIM:601202
Chromosome 9P Deletion Syndrome
Perimembranous ventricular septal defect, Inguinal hernia, Omphalocele, Atrial septal defect, Ven... OMIM:158170
Fanconi Anemia, Complementation Group J
Intrauterine growth retardation, Microphthalmia, Short thumb OMIM:609054
Conotruncal Heart Malformations
Double outlet right ventricle, Truncus arteriosus, Transposition of the great arteries, Complete ... OMIM:217095
Proximal 16P11.2 Microdeletion Syndrome
Congenital diaphragmatic hernia, Abnormal aortic valve morphology, Dextrocardia, Abnormal heart m... ORPHA:261197
Auriculocondylar Syndrome 2B
Omphalocele OMIM:620458
Focal Dermal Hypoplasia
Congenital diaphragmatic hernia, Abnormal adipose tissue morphology, Inguinal hernia, Abnormal de... ORPHA:2092
2Q24 Microdeletion Syndrome
Microphthalmia, Bullet-shaped distal phalanx of the hallux, Camptodactyly of finger, Hand clenchi... ORPHA:1617
Axial Mesodermal Dysplasia Spectrum
Congenital diaphragmatic hernia, Omphalocele ORPHA:1834
8P23.1 Microdeletion Syndrome
Congenital diaphragmatic hernia, Atrioventricular canal defect, Transposition of the great arteri... ORPHA:251071
Vacterl/Vater Association
Congenital diaphragmatic hernia, Abnormal cardiac septum morphology, Omphalocele ORPHA:887
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Congenital diaphragmatic hernia, Bicuspid aortic valve, Inguinal hernia, Patent foramen ovale, El... OMIM:245600
Meckel Syndrome, Type 2
Omphalocele OMIM:603194
Craniotelencephalic Dysplasia
Frontal encephalocele, Microphthalmia, Optic nerve hypoplasia OMIM:218670
Fetal Alcohol Syndrome
Congenital diaphragmatic hernia, Atrial septal defect ORPHA:1915
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Omphalocele ORPHA:3035
Lethal Omphalocele-Cleft Palate Syndrome
Omphalocele ORPHA:2736
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Intrauterine growth retardation, Microphthalmia, Talipes equinovarus OMIM:616171
Melnick-Needles Syndrome
Abnormal cardiac septum morphology, Omphalocele ORPHA:2484
Cataract 40
Nuclear cataract, Sutural cataract OMIM:302200
Seckel Syndrome 9
Congenital diaphragmatic hernia, Atrial septal defect, Ventricular septal defect OMIM:616777
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia, Clinodactyly, Syndactyly, Brachydactyly OMIM:610023
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features
Inguinal hernia OMIM:235760
Intellectual Disability-Strabismus Syndrome
Congenital diaphragmatic hernia, Congenital finger flexion contractures, Achilles tendon contract... ORPHA:363528
Persistent Müllerian Duct Syndrome
Inguinal hernia ORPHA:2856
Amoebic Keratitis
Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal ulceration,... ORPHA:67043
Mosaic Trisomy 1
Congenital diaphragmatic hernia, Elbow flexion contracture, Omphalocele, Camptodactyly of finger,... ORPHA:1692
Cutis Laxa, Autosomal Recessive, Type Ia
Congenital diaphragmatic hernia, Inguinal hernia, Umbilical hernia OMIM:219100
Mitochondrial Complex I Deficiency, Nuclear Type 16
Aplasia of the left hemidiaphragm OMIM:618238
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Elevated circulating creatine kinase concentration, Hyperammonemia, Cardiomegaly, D... OMIM:600649
Zaki Syndrome
Congenital diaphragmatic hernia, Patent foramen ovale OMIM:619648
Proximal 16P11.2 Microduplication Syndrome
Congenital diaphragmatic hernia ORPHA:370079
Anterior Segment Dysgenesis 2
Aniridia, Microcornea, Corneal opacity, Congenital aphakia, Anterior segment of eye aplasia, Scle... OMIM:610256
Heterotaxy, Visceral, 4, Autosomal
Atrioventricular canal defect, Transposition of the great arteries, Dextrocardia, Total anomalous... OMIM:613751
Foveal Hypoplasia 2
Microphthalmia, Hypoplasia of the fovea OMIM:609218
Craniotelencephalic Dysplasia
Frontal encephalocele, Microphthalmia, Septo-optic dysplasia ORPHA:1528
Fryns Syndrome
Congenital diaphragmatic hernia, Tetralogy of Fallot, Abnormal cardiac septum morphology, Omphalo... ORPHA:2059
White-Sutton Syndrome
Congenital diaphragmatic hernia, Ventral hernia, Inguinal hernia, Facial hypotonia, Abnormal hear... ORPHA:468678
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Enamel hypoplasia, Ventricular septal defect, Omphalocele OMIM:243150
Diets-Jongmans Syndrome
Congenital diaphragmatic hernia, Ventricular septal defect, Inguinal hernia, Umbilical hernia OMIM:618846
Genitopalatocardiac Syndrome
Congenital diaphragmatic hernia, Abnormal cardiac septum morphology ORPHA:2075
Developmental Delay With Or Without Dysmorphic Facies And Autism
Congenital diaphragmatic hernia, Inguinal hernia, Patent foramen ovale, Omphalocele, Umbilical he... OMIM:618454
Diamond-Blackfan Anemia 10
Congenital diaphragmatic hernia, Morgagni diaphragmatic hernia, Ventricular septal defect OMIM:613309
Miller-Dieker Lissencephaly Syndrome
Inguinal hernia, Camptodactyly, Omphalocele, Abnormal heart morphology, Abnormality of the abdomi... OMIM:247200
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Microcephaly-Microcornea Syndrome, Seemanova Type
Microphthalmia ORPHA:2528
Chromosome 10Q26 Deletion Syndrome
Atrial septal defect, Scapular winging, Omphalocele OMIM:609625
Cofs Syndrome
Intrauterine growth retardation, Camptodactyly of finger, Microphthalmia ORPHA:1466
Thakker-Donnai Syndrome
Congenital diaphragmatic hernia, Ventricular septal defect, Transposition of the great arteries, ... ORPHA:1780
Meacham Syndrome
Transposition of the great arteries, Dextrocardia, Cardiac total anomalous pulmonary venous conne... OMIM:608978
13Q12.3 Microdeletion Syndrome
Congenital diaphragmatic hernia, Camptodactyly ORPHA:412035
Opitz Gbbb Syndrome
Congenital diaphragmatic hernia, Inguinal hernia, Patent foramen ovale, Omphalocele, Abnormal hea... ORPHA:2745
Fibrochondrogenesis 1
Omphalocele, Patent foramen ovale, Camptodactyly, Joint contracture of the hand OMIM:228520
C Syndrome
Ventricular septal defect, Omphalocele OMIM:211750
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Congenital diaphragmatic hernia, Hypoplasia of right ventricle, Transposition of the great arteri... ORPHA:2255
Tibial Aplasia-Ectrodactyly Syndrome
Omphalocele ORPHA:3329
Chromosome 1Q41-Q42 Deletion Syndrome
Congenital diaphragmatic hernia, Ventricular septal defect OMIM:612530
Congenital Heart Defects And Skeletal Malformations Syndrome
Congenital diaphragmatic hernia, Atrial septal defect, Ventricular septal defect, Camptodactyly OMIM:617602
Trisomy 18
Congenital diaphragmatic hernia, Ventricular septal defect, Omphalocele, Camptodactyly of finger,... ORPHA:3380
Hartsfield Syndrome
Microphthalmia, Encephalocele, Split hand, Aplasia/Hypoplasia of the radius, Intrauterine growth ... ORPHA:2117
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia OMIM:611038
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Congenital diaphragmatic hernia, Ventricular septal defect OMIM:611812
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Occipital encephalocele, Microphthalmia ORPHA:324416
Czeizel-Losonci Syndrome
Posterolateral diaphragmatic hernia, Aplasia of the left hemidiaphragm, Dextrocardia ORPHA:2437
Facial Clefting, Oblique, 1
Microphthalmia OMIM:600251
Joubert Syndrome 22
Microphthalmia, 2-3 toe syndactyly, Postaxial hand polydactyly, Intrauterine growth retardation, ... OMIM:615665
Multiple Pterygium Syndrome, Escobar Variant
Congenital diaphragmatic hernia, Inguinal hernia, Knee flexion contracture, Weakness of facial mu... OMIM:265000
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia OMIM:278780
Pagod Syndrome
Congenital diaphragmatic hernia, Situs inversus totalis, Hypoplastic left heart, Omphalocele ORPHA:991
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency
Congenital diaphragmatic hernia, Elbow flexion contracture OMIM:618022
Fanconi Anemia, Complementation Group G
Abnormal thumb morphology, Microphthalmia OMIM:614082
Biemond Syndrome Type 2
Microphthalmia, Preaxial polydactyly ORPHA:141333
2Q37 Microdeletion Syndrome
Congenital diaphragmatic hernia, Umbilical hernia ORPHA:1001
Meckel Syndrome, Type 8
Polydactyly, Occipital encephalocele, Microphthalmia, Encephalocele, Anophthalmia, Talipes equino... OMIM:613885
Cardiac-Urogenital Syndrome
Congenital diaphragmatic hernia, Mesocardia, Partial anomalous pulmonary venous return, Dextrocar... OMIM:618280
1Q41Q42 Microdeletion Syndrome
Congenital diaphragmatic hernia ORPHA:250999
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Congenital diaphragmatic hernia OMIM:606164
White-Sutton Syndrome
Congenital diaphragmatic hernia, Atrial septal defect, Patent foramen ovale, Facial hypotonia OMIM:616364
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Microphthalmia OMIM:120433
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia OMIM:274270
Codas Syndrome
Atrioventricular canal defect, Omphalocele, Enamel hypoplasia, Atrial septal defect, Ventricular ... OMIM:600373
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Microphthalmia, Abnormal left ventricular function, Cardiomyopathy OMIM:613155
Hyperferritinemia With Or Without Cataract
Anterior subcapsular cataract, Nuclear cataract, Pulverulent cataract, Cataract OMIM:600886
3Mc Syndrome 1
Diastasis recti, Omphalocele, Abnormality of the abdominal wall, Atrial septal defect, Ventricula... OMIM:257920
Cataract 16, Multiple Types
Lenticonus, Developmental cataract, Posterior polar cataract OMIM:613763
Cat-Eye Syndrome
Intrauterine growth retardation, Microphthalmia ORPHA:195
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia OMIM:614830
Oculocerebrocutaneous Syndrome
Microphthalmia, Orbital encephalocele, Anophthalmia OMIM:164180
Xk Aprosencephaly Syndrome
Microphthalmia, Abnormal morphology of the radius ORPHA:3469
Idiopathic Uveal Effusion Syndrome
Microphthalmia ORPHA:209956
Iniencephaly
Congenital diaphragmatic hernia, Gastroschisis, Arthrogryposis multiplex congenita, Omphalocele ORPHA:63259
Loeys-Dietz Syndrome 6
Congenital diaphragmatic hernia, Inguinal hernia, Ventricular hypertrophy, Camptodactyly, Umbilic... OMIM:619656
Manitoba Oculotrichoanal Syndrome
Omphalocele OMIM:248450
Cutis Laxa, Autosomal Recessive, Type Ic
Inguinal hernia, Morgagni diaphragmatic hernia, Patent foramen ovale, Right ventricular hypertrop... OMIM:613177
Robinow Syndrome, Autosomal Dominant 3
Patent foramen ovale, Camptodactyly, Omphalocele, Hypoplastic right heart, Ventricular septal defect OMIM:616894
Fibrochondrogenesis
Camptodactyly of finger, Omphalocele ORPHA:2021
Otopalatodigital Syndrome, Type I
Omphalocele OMIM:311300
Cataract 9, Multiple Types
Microphthalmia OMIM:604219
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Subvalvular aortic stenosis, Complete atrioventricular canal defect OMIM:217085
Pierpont Syndrome
Short finger, Microphthalmia, Prominent fingertip pads, Short palm, Short toe, Short foot OMIM:602342
Pierpont Syndrome
Short finger, Microphthalmia, Prominent fingertip pads, Short toe ORPHA:487825
Limb Body Wall Complex
Congenital diaphragmatic hernia, Ectopia cordis, Ventral hernia, Diastasis recti, Abnormal heart ... ORPHA:2369
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly, Elevated circulating creatine kinase concentration OMIM:618838
Oculocerebrocutaneous Syndrome
Congenital diaphragmatic hernia ORPHA:1647
Alg9-Cdg
Atrial septal defect, Torticollis, Abnormal left ventricular outflow tract morphology, Hypoplasia... ORPHA:79328
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Microphthalmia, Rhizomelia, Metaphyseal cupping, Hypoplasia of the calcaneus, Metaphyseal cupping... OMIM:300863
Cornelia De Lange Syndrome 1
Congenital diaphragmatic hernia, Inguinal hernia, Elbow flexion contracture, Ventricular septal d... OMIM:122470
Short-Rib Thoracic Dysplasia 12
Patent foramen ovale, Ventricular septal defect, Inguinal hernia, Omphalocele OMIM:269860
Meckel Syndrome, Type 5
Occipital encephalocele, Microphthalmia, Anencephaly, Postaxial hand polydactyly, Bowing of the l... OMIM:611561
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Intrauterine growth retardation, Microphthalmia, Flexion contracture of toe, Finger joint contrac... ORPHA:48431
Simpson-Golabi-Behmel Syndrome
Congenital diaphragmatic hernia, Inguinal hernia, Aplasia/Hypoplasia of the abdominal wall muscul... ORPHA:373
7Q11.23 Microduplication Syndrome
Congenital diaphragmatic hernia, Inguinal hernia, Aortic valve stenosis, Atrial septal defect, Ve... ORPHA:96121
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia OMIM:267760
Temtamy Syndrome
Microphthalmia, Clinodactyly of the 5th finger, Short toe, Brachydactyly, Genu varum ORPHA:1777
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Adams-Oliver Syndrome 5
Inguinal hernia, Patent foramen ovale, Right atrial enlargement, Pulmonic stenosis, Right ventric... OMIM:616028
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Pulmonary valve atresia, Parachute mitral valve, Atrioventricular canal defect, Partial anomalous... OMIM:265380
Congenital Fibrinogen Deficiency
Prolonged prothrombin time, Abnormal bleeding, Gingival bleeding, Internal hemorrhage, Abnormal u... ORPHA:335
Otopalatodigital Syndrome Type 2
Abnormal cardiac septum morphology, Camptodactyly of finger, Abnormal heart valve morphology, Omp... ORPHA:90652
Lissencephaly 8
Occipital encephalocele, Microphthalmia, Talipes equinovarus OMIM:617255
Microphthalmia, Syndromic 13
Microphthalmia OMIM:300915
Aymé-Gripp Syndrome
Congenital diaphragmatic hernia, Inguinal hernia, Camptodactyly, Pericarditis, Pericardial effusion ORPHA:1272
Chromosome 1P36 Deletion Syndrome, Proximal
Atrial septal defect, Coronary artery fistula, Patent foramen ovale, Ventricular septal defect, C... OMIM:619343
Developmental And Epileptic Encephalopathy 89
Flexion contracture, Omphalocele OMIM:619124
Holoprosencephaly-Postaxial Polydactyly Syndrome
Abnormal cardiac septum morphology, Omphalocele, Umbilical hernia ORPHA:2166
Seckel Syndrome 2
Microphthalmia, Clinodactyly of the 5th finger, Heart murmur OMIM:606744
Microphthalmia, Isolated 5
Microphthalmia OMIM:611040
Medullary Thyroid Carcinoma
Abnormal liver parenchyma morphology ORPHA:1332
Triokinase And Fmn Cyclase Deficiency Syndrome
Dilated cardiomyopathy, Microphthalmia, Reduced systolic function OMIM:618805
Frontonasal Dysplasia 1
Microphthalmia, Radial deviation of finger, Postaxial hand polydactyly, Anterior basal encephaloc... OMIM:136760
D-Lactic Aciduria With Gout
Inguinal hernia OMIM:245450
Cardioacrofacial Dysplasia 1
Atrioventricular canal defect, Complete atrioventricular canal defect OMIM:619142
Cloacal Exstrophy
Bladder exstrophy, Cloacal exstrophy, Omphalocele ORPHA:93929
Ataxia-Telangiectasia-Like Disorder 2
Congenital diaphragmatic hernia, Joint contracture OMIM:615919
Oligomeganephronia
Congenital diaphragmatic hernia, Secundum atrial septal defect ORPHA:2260
Kagami-Ogata Syndrome
Diastasis recti, Inguinal hernia, Omphalocele ORPHA:254519
Microphthalmia, Isolated 8
Optic nerve hypoplasia, Microphthalmia, True anophthalmia, Anophthalmia OMIM:615113
Cardiomyopathy, Familial Hypertrophic, 27
Ventricular septal hypertrophy, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat... OMIM:618052
Osteopathia Striata With Cranial Sclerosis
Flexion contracture of toe, Facial palsy, Camptodactyly, Omphalocele, Atrial septal defect, Ventr... OMIM:300373
Linear Skin Defects With Multiple Congenital Anomalies 1
Congenital diaphragmatic hernia, Histiocytoid cardiomyopathy, Overriding aorta, Atrial septal def... OMIM:309801
Cardiac Valvular Dysplasia 1
Left atrial enlargement, Hypoplasia of right ventricle, Tricuspid valve prolapse, Muscular ventri... OMIM:212093
Gm1 Gangliosidosis
Gastroschisis, Inguinal hernia, Ventricular septal defect, Cardiomyopathy, Camptodactyly of finge... ORPHA:354
Holoprosencephaly
Congenital diaphragmatic hernia, Omphalocele, Tetralogy of Fallot, Ventricular septal defect, Abn... ORPHA:2162
Congenital Toxoplasmosis
Intrauterine growth retardation, Microphthalmia ORPHA:858
Mycophenolate Mofetil Embryopathy
Congenital diaphragmatic hernia, Ventricular septal defect ORPHA:268249
Exstrophy-Epispadias Complex
Inguinal hernia, Omphalocele, Abnormal heart morphology, Bladder exstrophy, Cystocele, Abnormalit... ORPHA:322
Warburg Micro Syndrome 1
Overlapping toe, Microphthalmia OMIM:600118
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Congenital diaphragmatic hernia, Atrial septal defect OMIM:614080
Specc1L-Related Hypertelorism Syndrome
Omphalocele, Tetralogy of Fallot, Umbilical hernia, Atrial septal defect, Ventricular septal defect ORPHA:1519
Acrofacial Dysostosis 1, Nager Type
Congenital diaphragmatic hernia, Ventricular septal defect, Gastroschisis, Tetralogy of Fallot OMIM:154400
Combined Immunodeficiency-Enteropathy Spectrum
Ventricular septal defect, Omphalocele ORPHA:436252
Acquired Purpura Fulminans
Prolonged prothrombin time, Macular purpura, Internal hemorrhage, Intracranial hemorrhage, Shock ORPHA:49566
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Polydactyly, Microphthalmia, Syndactyly OMIM:602501
Microphthalmia, Syndromic 8
Split foot, Microphthalmia OMIM:601349
Matthew-Wood Syndrome
Congenital diaphragmatic hernia ORPHA:2470
Heterotaxy, Visceral, 12, Autosomal
Situs inversus totalis, Dextrocardia, Patent foramen ovale, Double inlet right ventricle, Pulmoni... OMIM:619702
Fryns Syndrome
Aplasia of the left hemidiaphragm, Camptodactyly, Omphalocele, Atrial septal defect, Ventricular ... OMIM:229850
Cahmr Syndrome
Lamellar cataract OMIM:211770
Porphyria Cutanea Tarda
Hepatic lobular inflammation, Elevated circulating hepatic transaminase concentration, Periportal... ORPHA:101330
Acro-Renal-Mandibular Syndrome
Congenital diaphragmatic hernia ORPHA:958
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Overriding aorta, Tetralogy of Fallot, Omphalocele ORPHA:3186
Bartsocas-Papas Syndrome 1
Inguinal hernia, Patent foramen ovale, Omphalocele, Inferiorly positioned umbilicus, Flexion cont... OMIM:263650
Congenital Rubella Syndrome
Intrauterine growth retardation, Microphthalmia, Aplasia/Hypoplasia of the iris, Abnormal metaphy... ORPHA:290
Beckwith-Wiedemann Syndrome
Cardiomyopathy, Diastasis recti, Omphalocele, Cardiomegaly, Macroglossia