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Gene: Lrp1 MGI:96828

Gene Summary

Name:

low density lipoprotein receptor-related protein 1

Synonyms:

b2b1554Clo, CD91, A2mr

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
microphthalmia	Lrp1^{tm1.1(KOMP)Wtsi}	HOM	E12.5	0.00
increased heart weight	Lrp1^{tm1.1(KOMP)Wtsi}	HET	Early adult	7.88×10^-05
abnormal embryo size	Lrp1^{tm1.1(KOMP)Wtsi}	HOM	E12.5	0.00
abnormal craniofacial morphology	Lrp1^{tm1.1(KOMP)Wtsi}	HOM	E12.5	0.00
preweaning lethality, complete penetrance	Lrp1^{tm1.1(KOMP)Wtsi}	HOM	Early adult	0.00
abnormal forebrain morphology	Lrp1^{tm1.1(KOMP)Wtsi}	HOM	E12.5	0.00
hemorrhage	Lrp1^{tm1.1(KOMP)Wtsi}	HOM	E12.5	0.00
abnormal limb bud morphology	Lrp1^{tm1.1(KOMP)Wtsi}	HOM	E12.5	0.00
increased circulating alkaline phosphatase level	Lrp1^{tm1.1(KOMP)Wtsi}	HET	Early adult	1.82×10^-05

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	0.0%
hindlimb	0.0%
liver	0.0%
lung	0.0%
mandibular process	0.0%
maxillary process	0.0%
midbrain	0.0%
nose	Ambiguous
oral cavity	0.0%
skin	0.0%
spinal cord	Ambiguous
tail	0.0%
tail somite group	0.0%

2 Images

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Auditory Brain Stem Response

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

8 Images

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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.

Human diseases associated with Lrp1 (2 diseases)
Human diseases predicted to be associated with Lrp1 (666 diseases)

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

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

Disease	Matching phenotypes	Source
Omphalocele	Omphalocele	ORPHA:660
Muscle Cramps, Familial	Elevated circulating creatine kinase concentration	OMIM:158400
Cramps, Familial Adolescent	Elevated circulating creatine kinase concentration	OMIM:218050
Gastroschisis	Abdominal wall defect, Gastroschisis	OMIM:230750
8p23.1 deletion syndrome	Atrial septal defect, Atrioventricular canal defect, Congenital diaphragmatic hernia, Abnormal he...	DECIPHER:39
Omphalocele, X-Linked	Omphalocele	OMIM:310980
Omphalocele, Autosomal	Omphalocele	OMIM:164750
Pentosuria	Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level	ORPHA:2843
Fetal Encasement Syndrome	Omphalocele, Tetralogy of Fallot, Congenital diaphragmatic hernia	OMIM:613630
Ethanolaminosis	Cardiomegaly	OMIM:227150
Gastroschisis	Gastroschisis	ORPHA:2368
Epidermolysis Bullosa With Diaphragmatic Hernia	Congenital diaphragmatic hernia	OMIM:226735
Non-Syndromic Metopic Craniosynostosis	Omphalocele	ORPHA:3366
Cardiomyopathy, Dilated, 1I	Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Cardiomegaly	OMIM:604765
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
Hernia, Anterior Diaphragmatic	Congenital diaphragmatic hernia	OMIM:306950
Cutis Laxa, Neonatal, With Marfanoid Phenotype	Congenital diaphragmatic hernia, Abnormal heart morphology	OMIM:614100
Pseudodiastrophic Dysplasia	Omphalocele	ORPHA:85174
Cutis Laxa-Marfanoid Syndrome	Flexion contracture, Abnormal heart valve morphology, Congenital diaphragmatic hernia	ORPHA:171719
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive	Inguinal hernia, Thenar muscle atrophy, Dilated cardiomyopathy, Distal lower limb muscle weakness...	OMIM:619903
Neuronal Intestinal Pseudoobstruction	Abnormal cardiac septum morphology, Congenital diaphragmatic hernia	ORPHA:99811
Hereditary Continuous Muscle Fiber Activity	Congenital diaphragmatic hernia, Type 1 muscle fiber predominance	ORPHA:972
Isolated Anencephaly	Omphalocele, Congenital diaphragmatic hernia	ORPHA:563609
Fetal Valproate Spectrum Disorder	Omphalocele	ORPHA:1906
Isolated Asymptomatic Elevation Of Creatine Phosphokinase	Elevated creatine kinase after exercise, Elevated circulating creatine kinase concentration	ORPHA:206599
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Omphalocele, Congenital diaphragmatic hernia	ORPHA:2141
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Omphalocele, Abnormality of the diaphragm, Congenital diaphragmatic hernia	OMIM:601163
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Gombo Syndrome	Microphthalmia, Clinodactyly, Radial deviation of finger, Brachydactyly	OMIM:233270
Polydactyly-Myopia Syndrome	Inguinal hernia, Femoral hernia	ORPHA:2917
Hypothyroidism, Congenital, Nongoitrous, 4	Omphalocele, Macroglossia, Umbilical hernia	OMIM:275100
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Omphalocele, Ventricular septal defect, Diastasis recti, Abnormal heart morphology, Umbilical hernia	ORPHA:254534
Microphthalmia, Syndromic 12	Hypoplastic left atrium, Ventricular septal defect, Congenital diaphragmatic hernia	OMIM:615524
Donnai-Barrow Syndrome	Omphalocele, Umbilical hernia, Ventricular septal defect, Congenital diaphragmatic hernia	ORPHA:2143
3-Methylglutaconic Aciduria, Type Iv	Biventricular hypertrophy, Inguinal hernia, Subvalvular aortic stenosis	OMIM:250951
Persistent Mullerian Duct Syndrome, Types I And Ii	Inguinal hernia	OMIM:261550
Nphp3-Related Meckel-Like Syndrome	Abnormality of the pancreas, Abnormal biliary tract morphology, Abnormal liver parenchyma morphology	ORPHA:3032
46,Xx Sex Reversal 5	Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect, Aplasia of the ...	OMIM:618901
Acrocallosal Syndrome	Inguinal hernia, Congenital diaphragmatic hernia	ORPHA:36
Rhiny	Inguinal hernia	OMIM:180360
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Hypoplastic left heart, Ventricular septal defect, Gastroschisis	ORPHA:2476
Miller-Dieker Syndrome	Omphalocele	ORPHA:531
2q33.1 deletion syndrome	Inguinal hernia	DECIPHER:51
Acalvaria	Omphalocele	ORPHA:945
Pericardial And Diaphragmatic Defect	Bicuspid aortic valve, Congenital diaphragmatic hernia, Abnormal heart morphology, Aplasia of the...	ORPHA:2847
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Omphalocele, Ventricular septal defect	OMIM:601357
Schisis Association	Omphalocele, Congenital diaphragmatic hernia	ORPHA:63862
Linear Skin Defects With Multiple Congenital Anomalies 2	Atrial septal defect, Ventricular hypertrophy, Tetralogy of Fallot, Congenital diaphragmatic hernia	OMIM:300887
Testicular Anomalies With Or Without Congenital Heart Disease	Inguinal hernia, Tetralogy of Fallot	OMIM:615542
Microphthalmia, Isolated, With Cataract 1	Microphthalmia	OMIM:156850
Colonic Atresia	Omphalocele, Gastroschisis	ORPHA:1198
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Omphalocele, Ventricular septal defect	ORPHA:93267
Thoracoabdominal Syndrome	Omphalocele, Ventral hernia, Congenital diaphragmatic hernia, Transposition of the great arteries...	OMIM:313850
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Tetralogy of Fallot, Ventricular septal defect, Congenital diaphragmatic hernia	ORPHA:1166
Hypothyroidism, Congenital, Nongoitrous, 6	Omphalocele, Macroglossia	OMIM:614450
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia	OMIM:616335
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Coffin-Siris Syndrome 3	Inguinal hernia, Central diaphragmatic hernia, Abnormal heart morphology, Macroglossia, Umbilical...	OMIM:614608
Microphthalmia, Isolated, With Coloboma 6	Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia	OMIM:613703
Greig Cephalopolysyndactyly Syndrome	Umbilical hernia, Congenital diaphragmatic hernia	ORPHA:380
Gillessen-Kaesbach-Nishimura Syndrome	Omphalocele, Flexion contracture, Congenital diaphragmatic hernia, Abnormal heart morphology	OMIM:263210
Lymphedema, Cardiac Septal Defects, And Characteristic Facies	Atrial septal defect, Omphalocele, Overriding aorta, Ventricular septal defect	OMIM:601927
Right Atrial Isomerism	Right atrial isomerism, Inguinal hernia, Ventricular septal defect, Dextrocardia, Situs inversus ...	OMIM:208530
Distal 7Q11.23 Microduplication Syndrome	Congenital diaphragmatic hernia	ORPHA:261102
Congenital Diaphragmatic Hernia	Aplasia/Hypoplasia of the diaphragm, Congenital diaphragmatic hernia	ORPHA:2140
Serkal Syndrome	Congenital diaphragmatic hernia, Ventricular septal defect, Pulmonic stenosis	ORPHA:139466
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases	Inguinal hernia, Small hypothenar eminence, Mitral valve prolapse, Small thenar eminence, Camptod...	OMIM:211960
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome	Congenital diaphragmatic hernia	ORPHA:438134
Distal Duplication 15Q	Omphalocele, Congenital muscular torticollis, Camptodactyly of finger	ORPHA:1707
Boomerang Dysplasia	Omphalocele, Aplasia/Hypoplasia of the abdominal wall musculature	ORPHA:1263
Congenital Factor X Deficiency	Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery...	ORPHA:328
Cardiac Diverticulum	Bicuspid aortic valve, Bicuspid pulmonary valve, Atrial septal defect, Patent foramen ovale, Part...	ORPHA:1686
Non-Syndromic Posterior Hypospadias	Omphalocele, Congenital diaphragmatic hernia	ORPHA:95706
Trigonocephaly 1	Omphalocele	OMIM:190440
Cooper-Jabs Syndrome	Umbilical hernia, Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic he...	ORPHA:1488
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Hypoalbuminemia, Cardiomegaly	ORPHA:88643
Cerebrooculofacioskeletal Syndrome 3	Talipes equinovarus, Microphthalmia, Rocker bottom foot, Intrauterine growth retardation	OMIM:616570
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction	Omphalocele, Prune belly	OMIM:601389
Microphthalmia, Isolated, With Coloboma 4	Microphthalmia	OMIM:251505
Pentalogy Of Cantrell	Omphalocele, Ventricular septal defect, Abnormal pericardium morphology, Congenital diaphragmatic...	ORPHA:1335
Congenital Varicella Syndrome	Microphthalmia, Micromelia, Intrauterine growth retardation	ORPHA:291
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Kagami-Ogata Syndrome	Omphalocele, Inguinal hernia, Ventricular septal defect, Diastasis recti, Flexion contracture, Pu...	OMIM:608149
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Omphalocele, Ventricular septal defect, Parachute mitral valve, Atrial septal defect, Double outl...	OMIM:618316
Ferguson-Bonni Neurodevelopmental Syndrome	Congenital diaphragmatic hernia, Patent foramen ovale, Coronary-pulmonary artery fistula	OMIM:619699
Premature Ovarian Failure 12	Microphthalmia	OMIM:616947
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Bicuspid aortic valve, Congenital diaphragmatic hernia, Anomalous pulmonary venous return, Abnorm...	ORPHA:1120
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia	OMIM:251700
Bladder Exstrophy	Omphalocele, Umbilical hernia, Inguinal hernia, Bladder exstrophy	ORPHA:93930
Donnai-Barrow Syndrome	Omphalocele, Ventricular septal defect, Congenital diaphragmatic hernia, Umbilical hernia, Diaphr...	OMIM:222448
Constricting Bands, Congenital	Omphalocele, Ectopia cordis, Bladder exstrophy, Gastroschisis	OMIM:217100
Emanuel Syndrome	Inguinal hernia, Torticollis, Ventricular septal defect, Truncus arteriosus, Congenital diaphragm...	OMIM:609029
Microphthalmia, Isolated 4	Microphthalmia, Postaxial polydactyly	OMIM:613094
Craniorachischisis	Omphalocele, Congenital diaphragmatic hernia	ORPHA:63260
Jansen-De Vries Syndrome	Ventricular septal defect, Bicuspid aortic valve, Central diaphragmatic hernia	OMIM:617450
Caudal Duplication	Omphalocele	ORPHA:1756
Adams-Oliver Syndrome 4	Short toe, Absent middle phalanx of the 3rd toe, Aplasia of the middle phalanx of the 4th toe, Um...	OMIM:615297
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Omphalocele, Ventricular septal defect	OMIM:617895
Tonne-Kalscheuer Syndrome	Congenital diaphragmatic hernia, Abnormal heart morphology	OMIM:300978
Microphthalmia, Isolated, With Coloboma 5	Microphthalmia, Anophthalmia, Bilateral microphthalmos	OMIM:611638
Heart Defects, Congenital, And Other Congenital Anomalies	Double outlet left ventricle, Inguinal hernia, Ventricular septal defect, Congenital diaphragmati...	OMIM:600001
Microphthalmia, Syndromic 9	Inguinal hernia, Ventricular septal defect, Congenital diaphragmatic hernia, Hypoplastic left atr...	OMIM:601186
X-Linked Ehlers-Danlos Syndrome	Umbilical hernia, Inguinal hernia, Hernia	ORPHA:75497
Lethal Congenital Contracture Syndrome 10	Omphalocele, Torticollis, Overriding aorta, Ventricular septal defect, Cardiomegaly, Macroglossia...	OMIM:617022
Nanophthalmos	Microphthalmia	ORPHA:35612
Trisomy 1Q	Omphalocele, Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic hernia	ORPHA:261344
Autosomal Recessive Spondylocostal Dysostosis	Inguinal hernia, Camptodactyly of finger, Congenital diaphragmatic hernia, Anomalous pulmonary ve...	ORPHA:2311
Halperin-Birk Syndrome	Inguinal hernia, Congenital diaphragmatic hernia, Flexion contracture, Perimembranous ventricular...	OMIM:618651
Diaphragmatic Hernia 2	Agenesis of the diaphragm, Congenital diaphragmatic hernia	OMIM:222400
Fryns Microphthalmia Syndrome	Microphthalmia, Anophthalmia, Neural tube defect	OMIM:600776
Microphthalmia, Isolated, With Coloboma 10	Microphthalmia, Anophthalmia	OMIM:616428
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Inguinal hernia, Congenital diaphragmatic hernia	ORPHA:2063
Microphthalmia, Isolated 2	Microphthalmia	OMIM:610093
Emanuel Syndrome	Inguinal hernia, Multiple joint contractures, Ventricular septal defect, Truncus arteriosus, Cong...	ORPHA:96170
Chromosome 15Q25 Deletion Syndrome	Inguinal hernia, Ventricular septal defect, Dextrocardia, Congenital diaphragmatic hernia, Corona...	OMIM:614294
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Omphalocele, Ventricular septal defect, Bicuspid aortic valve, Mitral valve prolapse, Atrial sept...	ORPHA:371428
Xp22.13P22.2 Duplication Syndrome	Umbilical hernia, Congenital diaphragmatic hernia	ORPHA:284180
Cutis Laxa, Autosomal Recessive, Type Ia	Umbilical hernia, Inguinal hernia, Congenital diaphragmatic hernia	OMIM:219100
Nanophthalmos 4	Microphthalmia	OMIM:615972
Hepatoportal Sclerosis	Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Po...	ORPHA:64743
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia	ORPHA:1574
Multicentric Carpotarsal Osteolysis Syndrome	Congenital diaphragmatic hernia	OMIM:166300
Pseudotrisomy 13 Syndrome	Omphalocele, Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Atr...	OMIM:264480
Microphthalmia, Isolated, With Coloboma 7	Microphthalmia	OMIM:614497
Teebi Hypertelorism Syndrome 1	Atrial septal defect, Omphalocele, Ventricular septal defect	OMIM:145420
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microphthalmia	ORPHA:2432
Robinow Syndrome, Autosomal Recessive 2	Ventral hernia, Omphalocele, Bicuspid aortic valve, Camptodactyly	OMIM:618529
Triploidy	Omphalocele, Macroglossia, Abnormal cardiac septum morphology	ORPHA:3376
Citrullinemia, Type Ii, Adult-Onset	Portal inflammation, Elevated circulating alanine aminotransferase concentration, Ballooning hepa...	OMIM:603471
Mmep Syndrome	Microphthalmia, Split foot, Triphalangeal thumb	ORPHA:3434
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Omphalocele, Neoplasm of the heart, Umbilical hernia	ORPHA:2241
Heterotaxy, Visceral, 1, X-Linked	Omphalocele, Right atrial isomerism, Mitral stenosis, Ventricular septal defect, Dextrocardia, Ca...	OMIM:306955
15Q24 Microdeletion Syndrome	Hernia, Congenital diaphragmatic hernia, Abnormal heart morphology	ORPHA:94065
Cataract 11, Multiple Types	Microphthalmia	OMIM:610623
Carpenter Syndrome 1	Omphalocele, Ventricular septal defect, Joint contracture of the hand, Transposition of the great...	OMIM:201000
Lowry-Maclean Syndrome	Atrioventricular canal defect, Inguinal hernia, Congenital diaphragmatic hernia	ORPHA:2409
Congenital Heart Defects, Multiple Types, 6	Ventricular septal defect, Secundum atrial septal defect, Complete atrioventricular canal defect,...	OMIM:613854
Microphthalmia, Isolated, With Coloboma 3	Microphthalmia	OMIM:610092
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Omphalocele, Inguinal hernia, Diastasis recti, Flexion contracture, Macroglossia, Camptodactyly, ...	ORPHA:254528
Arterial Tortuosity Syndrome	Ventricular hypertrophy, Inguinal hernia, Congenital diaphragmatic hernia, Hiatus hernia, Flexion...	OMIM:208050
Craniofrontonasal Dysplasia	Camptodactyly of finger, Congenital diaphragmatic hernia	ORPHA:1520
Meacham Syndrome	Ventricular septal defect, Congenital diaphragmatic hernia, Situs inversus totalis, Anomalous pul...	ORPHA:3097
Cebalid Syndrome	Congenital diaphragmatic hernia	OMIM:618774
Conotruncal Heart Malformations	Complete atrioventricular canal defect, Truncus arteriosus, Transposition of the great arteries, ...	OMIM:217095
Chromosome 9P Deletion Syndrome	Omphalocele, Inguinal hernia, Ventricular septal defect, Perimembranous ventricular septal defect...	OMIM:158170
Fanconi Anemia, Complementation Group J	Microphthalmia, Short thumb, Intrauterine growth retardation	OMIM:609054
Focal Dermal Hypoplasia	Omphalocele, Inguinal hernia, Ventricular septal defect, Abnormal dental enamel morphology, Conge...	ORPHA:2092
Proximal 16P11.2 Microdeletion Syndrome	Dextrocardia, Congenital diaphragmatic hernia, Abnormal heart morphology, Abnormal aortic valve m...	ORPHA:261197
2Q24 Microdeletion Syndrome	Toe syndactyly, Camptodactyly of finger, Long fingers, Bullet-shaped distal phalanx of the hallux...	ORPHA:1617
Axial Mesodermal Dysplasia Spectrum	Omphalocele, Congenital diaphragmatic hernia	ORPHA:1834
Vacterl/Vater Association	Omphalocele, Abnormal cardiac septum morphology, Congenital diaphragmatic hernia	ORPHA:887
Meckel Syndrome, Type 2	Omphalocele	OMIM:603194
8P23.1 Microdeletion Syndrome	Congenital diaphragmatic hernia, Hypertrophic cardiomyopathy, Abnormal cardiac septum morphology,...	ORPHA:251071
Melnick-Needles Syndrome	Omphalocele, Abnormal cardiac septum morphology	ORPHA:2484
Fetal Alcohol Syndrome	Atrial septal defect, Congenital diaphragmatic hernia	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	Microphthalmia, Talipes equinovarus, Intrauterine growth retardation	OMIM:616171
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Inguinal hernia, Bicuspid aortic valve, Congenital diaphragmatic hernia, Cardiomegaly, Elbow flex...	OMIM:245600
Craniotelencephalic Dysplasia	Microphthalmia, Frontal encephalocele, Optic nerve hypoplasia	OMIM:218670
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Clinodactyly, Microphthalmia, Brachydactyly, Syndactyly	OMIM:610023
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features	Inguinal hernia	OMIM:235760
Persistent Müllerian Duct Syndrome	Inguinal hernia	ORPHA:2856
Seckel Syndrome 9	Atrial septal defect, Ventricular septal defect, Congenital diaphragmatic hernia	OMIM:616777
Intellectual Disability-Strabismus Syndrome	Congenital diaphragmatic hernia, Achilles tendon contracture, Congenital finger flexion contractu...	ORPHA:363528
Mosaic Trisomy 1	Omphalocele, Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic hernia,...	ORPHA:1692
Mitochondrial Complex I Deficiency, Nuclear Type 16	Aplasia of the left hemidiaphragm	OMIM:618238
Proximal 16P11.2 Microduplication Syndrome	Congenital diaphragmatic hernia	ORPHA:370079
Zaki Syndrome	Patent foramen ovale, Congenital diaphragmatic hernia	OMIM:619648
Heterotaxy, Visceral, 4, Autosomal	Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit...	OMIM:613751
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated cardiomyo...	OMIM:600649
Craniotelencephalic Dysplasia	Microphthalmia, Septo-optic dysplasia, Frontal encephalocele	ORPHA:1528
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Omphalocele, Enamel hypoplasia, Ventricular septal defect	OMIM:243150
Fryns Syndrome	Omphalocele, Abnormal cardiac septum morphology, Tetralogy of Fallot, Congenital diaphragmatic he...	ORPHA:2059
Foveal Hypoplasia 2	Hypoplasia of the fovea, Microphthalmia	OMIM:609218
Diets-Jongmans Syndrome	Umbilical hernia, Inguinal hernia, Ventricular septal defect, Congenital diaphragmatic hernia	OMIM:618846
Genitopalatocardiac Syndrome	Abnormal cardiac septum morphology, Congenital diaphragmatic hernia	ORPHA:2075
Diamond-Blackfan Anemia 10	Ventricular septal defect, Congenital diaphragmatic hernia, Morgagni diaphragmatic hernia	OMIM:613309
Miller-Dieker Lissencephaly Syndrome	Omphalocele, Inguinal hernia, Abnormality of the abdominal wall, Abnormal heart morphology, Campt...	OMIM:247200
Chromosome 10Q26 Deletion Syndrome	Atrial septal defect, Scapular winging, Omphalocele	OMIM:609625
White-Sutton Syndrome	Ventral hernia, Inguinal hernia, Facial hypotonia, Congenital diaphragmatic hernia, Abnormal hear...	ORPHA:468678
Developmental Delay With Or Without Dysmorphic Facies And Autism	Omphalocele, Inguinal hernia, Ventricular septal defect, Congenital diaphragmatic hernia, Umbilic...	OMIM:618454
Microcephaly-Microcornea Syndrome, Seemanova Type	Microphthalmia	ORPHA:2528
Meacham Syndrome	Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Aplasia of the right hemidiaphrag...	OMIM:608978
Cofs Syndrome	Microphthalmia, Camptodactyly of finger, Intrauterine growth retardation	ORPHA:1466
13Q12.3 Microdeletion Syndrome	Congenital diaphragmatic hernia, Camptodactyly	ORPHA:412035
Microphthalmia, Isolated 6	Microphthalmia	OMIM:613517
Thakker-Donnai Syndrome	Tetralogy of Fallot, Ventricular septal defect, Transposition of the great arteries, Congenital d...	ORPHA:1780
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Double outlet left ventricle, Ventricular septal defect, Congenital diaphragmatic hernia, Patent ...	ORPHA:2255
C Syndrome	Omphalocele, Ventricular septal defect	OMIM:211750
Fibrochondrogenesis 1	Omphalocele, Joint contracture of the hand, Patent foramen ovale, Camptodactyly	OMIM:228520
Tibial Aplasia-Ectrodactyly Syndrome	Omphalocele	ORPHA:3329
Opitz Gbbb Syndrome	Omphalocele, Inguinal hernia, Ventricular septal defect, Congenital diaphragmatic hernia, Abnorma...	ORPHA:2745
Chromosome 1Q41-Q42 Deletion Syndrome	Ventricular septal defect, Congenital diaphragmatic hernia	OMIM:612530
Congenital Heart Defects And Skeletal Malformations Syndrome	Atrial septal defect, Ventricular septal defect, Congenital diaphragmatic hernia, Camptodactyly	OMIM:617602
Trisomy 18	Omphalocele, Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic hernia,...	ORPHA:3380
Facial Clefting, Oblique, 1	Microphthalmia	OMIM:600251
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Ventricular septal defect, Congenital diaphragmatic hernia	OMIM:611812
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Microphthalmia, Occipital encephalocele	ORPHA:324416
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia	OMIM:611038
Czeizel-Losonci Syndrome	Posterolateral diaphragmatic hernia, Aplasia of the left hemidiaphragm, Dextrocardia	ORPHA:2437
Congenital Primary Aphakia	Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia	ORPHA:83461
Hartsfield Syndrome	Encephalocele, Split hand, Aplasia/Hypoplasia of the radius, Microphthalmia, Intrauterine growth ...	ORPHA:2117
Multiple Pterygium Syndrome, Escobar Variant	Inguinal hernia, Multiple joint contractures, Congenital diaphragmatic hernia, Weakness of facial...	OMIM:265000
Pagod Syndrome	Situs inversus totalis, Omphalocele, Hypoplastic left heart, Congenital diaphragmatic hernia	ORPHA:991
Xeroderma Pigmentosum, Complementation Group G	Microphthalmia	OMIM:278780
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency	Elbow flexion contracture, Congenital diaphragmatic hernia	OMIM:618022
Joubert Syndrome 22	Postaxial hand polydactyly, 2-3 toe syndactyly, Postaxial foot polydactyly, Microphthalmia, Intra...	OMIM:615665
Fanconi Anemia, Complementation Group G	Abnormal thumb morphology, Microphthalmia	OMIM:614082
Biemond Syndrome Type 2	Microphthalmia, Preaxial polydactyly	ORPHA:141333
1Q41Q42 Microdeletion Syndrome	Congenital diaphragmatic hernia	ORPHA:250999
Meckel Syndrome, Type 8	Encephalocele, Occipital encephalocele, Anophthalmia, Polydactyly, Talipes equinovarus, Microphth...	OMIM:613885
Dihydropyrimidine Dehydrogenase Deficiency	Microphthalmia	OMIM:274270
White-Sutton Syndrome	Atrial septal defect, Facial hypotonia, Patent foramen ovale, Congenital diaphragmatic hernia	OMIM:616364
3Mc Syndrome 1	Omphalocele, Ventricular septal defect, Diastasis recti, Abnormality of the abdominal wall, Atria...	OMIM:257920
D-Lactic Aciduria With Gout	Inguinal hernia	OMIM:245450
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Microphthalmia	OMIM:120433
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis	Congenital diaphragmatic hernia	OMIM:606164
2Q37 Microdeletion Syndrome	Umbilical hernia, Congenital diaphragmatic hernia	ORPHA:1001
Manitoba Oculotrichoanal Syndrome	Omphalocele	OMIM:248450
Codas Syndrome	Omphalocele, Ventricular septal defect, Atrial septal defect, Atrioventricular canal defect, Enam...	OMIM:600373
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly	Complete atrioventricular canal defect, Subvalvular aortic stenosis	OMIM:217085
Cardiac-Urogenital Syndrome	Cor triatrium sinister, Ventricular septal defect, Dextrocardia, Coronary sinus enlargement, Cong...	OMIM:618280
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Microphthalmia	OMIM:614830
Cat-Eye Syndrome	Microphthalmia, Intrauterine growth retardation	ORPHA:195
Seckel Syndrome 2	Clinodactyly of the 5th finger, Microphthalmia, Heart murmur	OMIM:606744
Oculocerebrocutaneous Syndrome	Microphthalmia, Orbital encephalocele, Anophthalmia	OMIM:164180
Xk Aprosencephaly Syndrome	Microphthalmia, Abnormal morphology of the radius	ORPHA:3469
Iniencephaly	Omphalocele, Arthrogryposis multiplex congenita, Gastroschisis, Congenital diaphragmatic hernia	ORPHA:63259
Fibrochondrogenesis	Omphalocele, Camptodactyly of finger	ORPHA:2021
Otopalatodigital Syndrome, Type I	Omphalocele	OMIM:311300
Cutis Laxa, Autosomal Recessive, Type Ic	Posterolateral diaphragmatic hernia, Inguinal hernia, Morgagni diaphragmatic hernia, Umbilical he...	OMIM:613177
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Abnormal left ventricular function, Microphthalmia, Cardiomyopathy	OMIM:613155
Robinow Syndrome, Autosomal Dominant 3	Omphalocele, Ventricular septal defect, Hypoplastic right heart, Camptodactyly, Patent foramen ovale	OMIM:616894
Cataract 9, Multiple Types	Microphthalmia	OMIM:604219
Limb Body Wall Complex	Ventral hernia, Ventricular septal defect, Diastasis recti, Congenital diaphragmatic hernia, Abdo...	ORPHA:2369
Short-Rib Thoracic Dysplasia 12	Omphalocele, Ventricular septal defect, Patent foramen ovale, Inguinal hernia	OMIM:269860
Oculocerebrocutaneous Syndrome	Congenital diaphragmatic hernia	ORPHA:1647
Pierpont Syndrome	Short toe, Short foot, Short finger, Short palm, Prominent fingertip pads, Microphthalmia	OMIM:602342
Alg9-Cdg	Omphalocele, Torticollis, Ventricular septal defect, Lipodystrophy, Hypoplasia of the musculature...	ORPHA:79328
Pierpont Syndrome	Prominent fingertip pads, Microphthalmia, Short toe, Short finger	ORPHA:487825
Combined Oxidative Phosphorylation Deficiency 41	Elevated circulating creatine kinase concentration, Cardiomegaly	OMIM:618838
Simpson-Golabi-Behmel Syndrome	Omphalocele, Inguinal hernia, Ventricular septal defect, Camptodactyly of finger, Congenital diap...	ORPHA:373
Meckel Syndrome, Type 5	Occipital encephalocele, Bowing of the long bones, Postaxial hand polydactyly, Anencephaly, Posta...	OMIM:611561
Lissencephaly 8	Microphthalmia, Occipital encephalocele, Talipes equinovarus	OMIM:617255
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Rhizomelia, Metaphyseal cupping, Metaphyseal cupping of proximal phalanges, Metaphyseal cupping o...	OMIM:300863
7Q11.23 Microduplication Syndrome	Inguinal hernia, Ventricular septal defect, Congenital diaphragmatic hernia, Atrial septal defect...	ORPHA:96121
Cornelia De Lange Syndrome 1	Inguinal hernia, Ventricular septal defect, Congenital diaphragmatic hernia, Hiatus hernia, Elbow...	OMIM:122470
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Omphalocele, Bicuspid aortic valve, Ventricular septal defect, Parachute mitral valve, Diastasis ...	OMIM:265380
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Microphthalmia, Camptodactyly of finger, Intrauterine growth retardation	ORPHA:48431
Otopalatodigital Syndrome Type 2	Omphalocele, Abnormal cardiac septum morphology, Abnormal heart valve morphology, Camptodactyly o...	ORPHA:90652
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Microphthalmia	OMIM:267760
Medullary Thyroid Carcinoma	Abnormal liver parenchyma morphology	ORPHA:1332
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia	OMIM:615771
Aymé-Gripp Syndrome	Pericarditis, Inguinal hernia, Congenital diaphragmatic hernia, Pericardial effusion, Camptodactyly	ORPHA:1272
Congenital Fibrinogen Deficiency	Abnormal bleeding, Tachycardia, Internal hemorrhage, Prolonged prothrombin time, Gingival bleedin...	ORPHA:335
Developmental And Epileptic Encephalopathy 89	Omphalocele, Flexion contracture	OMIM:619124
Holoprosencephaly-Postaxial Polydactyly Syndrome	Omphalocele, Umbilical hernia, Abnormal cardiac septum morphology	ORPHA:2166
Adams-Oliver Syndrome 5	Inguinal hernia, Right atrial enlargement, Pulmonic stenosis, Umbilical hernia, Patent foramen ov...	OMIM:616028
Microphthalmia, Syndromic 13	Microphthalmia	OMIM:300915
Temtamy Syndrome	Short toe, Genu varum, Clinodactyly of the 5th finger, Microphthalmia, Brachydactyly	ORPHA:1777
Triokinase And Fmn Cyclase Deficiency Syndrome	Microphthalmia, Dilated cardiomyopathy, Reduced systolic function	OMIM:618805
Chromosome 1P36 Deletion Syndrome, Proximal	Bicuspid aortic valve, Ventricular septal defect, Complete atrioventricular canal defect, Partial...	OMIM:619343
Microphthalmia, Isolated 5	Microphthalmia	OMIM:611040
Frontonasal Dysplasia 1	Postaxial hand polydactyly, Anterior basal encephalocele, Radial deviation of finger, Camptodacty...	OMIM:136760
Kagami-Ogata Syndrome	Omphalocele, Inguinal hernia, Diastasis recti	ORPHA:254519
Osteopathia Striata With Cranial Sclerosis	Omphalocele, Ventricular septal defect, Facial palsy, Camptodactyly, Atrial septal defect, Joint ...	OMIM:300373
Gm1 Gangliosidosis	Inguinal hernia, Ventricular septal defect, Camptodactyly of finger, Aplasia/Hypoplasia of the ab...	ORPHA:354
Oligomeganephronia	Secundum atrial septal defect, Congenital diaphragmatic hernia	ORPHA:2260
Ataxia-Telangiectasia-Like Disorder 2	Joint contracture, Congenital diaphragmatic hernia	OMIM:615919
Cloacal Exstrophy	Omphalocele, Bladder exstrophy, Cloacal exstrophy	ORPHA:93929
Microphthalmia, Isolated 8	Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia	OMIM:615113
Linear Skin Defects With Multiple Congenital Anomalies 1	Overriding aorta, Ventricular septal defect, Congenital diaphragmatic hernia, Atrial septal defec...	OMIM:309801
Holoprosencephaly	Omphalocele, Ventricular septal defect, Abnormal pulmonary valve morphology, Congenital diaphragm...	ORPHA:2162
Cardioacrofacial Dysplasia 1	Complete atrioventricular canal defect, Atrioventricular canal defect	OMIM:619142
Cardiomyopathy, Familial Hypertrophic, 27	Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy...	OMIM:618052
Mycophenolate Mofetil Embryopathy	Ventricular septal defect, Congenital diaphragmatic hernia	ORPHA:268249
Exstrophy-Epispadias Complex	Omphalocele, Inguinal hernia, Cystocele, Abnormality of the abdominal wall, Abnormal heart morpho...	ORPHA:322
Congenital Toxoplasmosis	Microphthalmia, Intrauterine growth retardation	ORPHA:858
Specc1L-Related Hypertelorism Syndrome	Omphalocele, Ventricular septal defect, Atrial septal defect, Umbilical hernia, Tetralogy of Fallot	ORPHA:1519
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Atrial septal defect, Congenital diaphragmatic hernia	OMIM:614080
Cardiac Valvular Dysplasia 1	Inguinal hernia, Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, Valvular...	OMIM:212093
Warburg Micro Syndrome 1	Microphthalmia, Overlapping toe	OMIM:600118
Combined Immunodeficiency-Enteropathy Spectrum	Omphalocele, Ventricular septal defect	ORPHA:436252
Acrofacial Dysostosis 1, Nager Type	Tetralogy of Fallot, Ventricular septal defect, Gastroschisis, Congenital diaphragmatic hernia	OMIM:154400
Heterotaxy, Visceral, 12, Autosomal	Ventricular septal defect, Dextrocardia, Situs inversus totalis, Common atrium, Complete atrioven...	OMIM:619702
Matthew-Wood Syndrome	Congenital diaphragmatic hernia	ORPHA:2470
Fryns Syndrome	Omphalocele, Ventricular septal defect, Aplasia of the left hemidiaphragm, Camptodactyly, Atrial ...	OMIM:229850
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Microphthalmia, Polydactyly, Syndactyly	OMIM:602501
Acquired Purpura Fulminans	Shock, Intracranial hemorrhage, Prolonged prothrombin time, Macular purpura, Internal hemorrhage	ORPHA:49566
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Omphalocele, Overriding aorta, Tetralogy of Fallot	ORPHA:3186
Bartsocas-Papas Syndrome 1	Omphalocele, Inguinal hernia, Flexion contracture, Arthrogryposis multiplex congenita, Patent for...	OMIM:263650
Necrotizing Enterocolitis	Gastroschisis, Abnormal heart morphology	ORPHA:391673
Microphthalmia, Syndromic 8	Microphthalmia, Split foot	OMIM:601349
Acrocephalopolydactylous Dysplasia	Omphalocele	OMIM:200995
Porphyria Cutanea Tarda	Elevated hepatic transaminase, Viral hepatitis, Hepatocellular carcinoma, Portal inflammation, Ch...	ORPHA:101330
Acro-Renal-Mandibular Syndrome	Congenital diaphragmatic hernia	ORPHA:958
Congenital Rubella Syndrome	Aplasia/Hypoplasia of the iris, Microphthalmia, Abnormal metaphysis morphology, Intrauterine grow...	ORPHA:290
Marshall-Smith Syndrome	Omphalocele, Ventricular septal defect, Atrial septal defect, Umbilical hernia, Dysplastic aortic...	OMIM:602535
Beckwith-Wiedemann Syndrome	Omphalocele, Diastasis recti, Cardiomegaly, Macroglossia, Cardiomyopathy	OMIM:130650
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Rhizomelia, Metaphyseal chondrodysplasia, Abnormality of the calcaneus, Metaphyseal cupping of me...	ORPHA:163966
Meckel Syndrome, Type 4	Encephalocele, Bowing of the long bones, Postaxial hand polydactyly, Meningocele, Anencephaly, Mi...	OMIM:611134
Ring Chromosome 10 Syndrome	Sandal gap, Microphthalmia, Tapered finger, Intrauterine growth retardation	ORPHA:1438
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Sandal gap, Lens coloboma, 2-3 toe syndactyly, Umbilical hernia, Joint contracture of the 4th fin...	OMIM:618914
Cerebrooculofacioskeletal Syndrome 2	Microphthalmia, Camptodactyly of finger, Rocker bottom foot, Intrauterine growth retardation	OMIM:610756
Developmental Delay With Variable Neurologic And Brain Abnormalities	Microphthalmia, Camptodactyly	OMIM:619694
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Atrial septal defect, Congenital diaphragmatic hernia	OMIM:616546
Distal Deletion 15Q	Bicuspid aortic valve, Mitral atresia, Congenital diaphragmatic hernia, Double outlet right ventr...	ORPHA:1596
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Elevated hepatic transaminase, Giant cell hepatitis, Death in infancy, Hepatic melanin-like lysos...	OMIM:208085
Hydrolethalus Syndrome 1	Omphalocele, Complete atrioventricular canal defect, Agenesis of the diaphragm, Ventricular septa...	OMIM:236680
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Microphthalmia, Camptodactyly of finger, Symphalangism affecting the phalanges of the hand	ORPHA:2547
Smith-Lemli-Opitz Syndrome	Ventricular septal defect, Abnormal dental enamel morphology, Congenital diaphragmatic hernia, Ga...	ORPHA:818
Beckwith-Wiedemann Syndrome	Omphalocele, Inguinal hernia, Diastasis recti, Congenital diaphragmatic hernia, Cardiomegaly, Rha...	ORPHA:116
Moebius Syndrome	Syndactyly, Brachydactyly, Clinodactyly, Split hand, Talipes equinovarus, Lower limb undergrowth,...	OMIM:157900
Esophageal Atresia	Omphalocele, Tetralogy of Fallot, Ventricular septal defect	ORPHA:1199
Tetraamelia Syndrome 1	Gastroschisis, Congenital diaphragmatic hernia	OMIM:273395
Attrv122I Amyloidosis	Increased circulating NT-proBNP concentration, Cardiomegaly, Hypertrophic cardiomyopathy, Aortic ...	ORPHA:85451
Craniofrontonasal Syndrome	Umbilical hernia, Congenital diaphragmatic hernia	OMIM:304110
Braddock-Carey Syndrome 2	Microphthalmia, Clinodactyly	OMIM:619981
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Microphthalmia	OMIM:251270
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Microphthalmia	ORPHA:1473
Microphthalmia With Limb Anomalies	Anophthalmia, Toe syndactyly, Sandal gap, Capitate-hamate fusion, 2-3 toe cutaneous syndactyly, P...	OMIM:206920
Corneal Dystrophy, Posterior Polymorphous, 3	Inguinal hernia	OMIM:609141
Osteoporosis-Pseudoglioma Syndrome	Microphthalmia, Metaphyseal widening, Abnormal lower limb bone morphology, Abnormal femoral neck/...	ORPHA:2788
Subaortic Stenosis-Short Stature Syndrome	Microphthalmia, Arrhythmia, Synostosis of carpal bones	ORPHA:3191
Okamoto Syndrome	Omphalocele, Ventricular septal defect, Abnormal left ventricle morphology, Primum atrial septal ...	ORPHA:2729
Myoectodermal Gonadal Dysgenesis Syndrome	Omphalocele, Diastasis recti	OMIM:618419
Melnick-Needles Syndrome	Omphalocele, Tricuspid valve prolapse, Mitral valve prolapse	OMIM:309350
Autosomal Dominant Keratitis	Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A...	ORPHA:2334
17Q12 Microduplication Syndrome	Microphthalmia, Toe syndactyly, Finger syndactyly	ORPHA:261272
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Omphalocele	OMIM:616300
Bresek Syndrome	Microphthalmia, Postaxial hand polydactyly, Optic nerve hypoplasia, Intrauterine growth retardation	ORPHA:85284
Klippel-Trénaunay Syndrome	Gastrointestinal hemorrhage, Prolonged bleeding time, Pulmonary embolism, Congestive heart failur...	ORPHA:90308
Temtamy Syndrome	Aortic regurgitation, Short 2nd toe, Talipes equinovarus, Microphthalmia, Brachydactyly	OMIM:218340
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Hepatomegaly, Aplasia/Hypoplasia of the pancreas, Abnormal liver parenchyma morphology, Hyperecho...	ORPHA:456312
Denys-Drash Syndrome	Posterolateral diaphragmatic hernia, Congenital diaphragmatic hernia	OMIM:194080
Microphthalmia, Isolated, With Corectopia	Microphthalmia	OMIM:156900
Hamamy Syndrome	Atrial septal defect, Complete atrioventricular canal defect, Inguinal hernia, Enamel hypoplasia	OMIM:611174
Mullegama-Klein-Martinez Syndrome	Facial palsy, Hypoplastic left heart, Apical muscular ventricular septal defect, Congenital diaph...	OMIM:301022
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Microphthalmia, Optic nerve hypoplasia	OMIM:615181
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Microphthalmia	ORPHA:1135
Wolf-Hirschhorn Syndrome	Abnormal heart valve morphology, Congenital diaphragmatic hernia, Abnormal cardiac septum morphol...	ORPHA:280
Perlman Syndrome	Hypoplasia of the abdominal wall musculature, Congenital diaphragmatic hernia	OMIM:267000
Microphthalmia, Syndromic 11	Microphthalmia	OMIM:614402
Cerebrooculofacioskeletal Syndrome 1	Rocker bottom foot, Coxa valga, Second metatarsal posteriorly placed, Camptodactyly, Microphthalmia	OMIM:214150
Developmental And Epileptic Encephalopathy 1	Microphthalmia	OMIM:308350
Omphalocele Syndrome, Shprintzen-Goldberg Type	Omphalocele	ORPHA:3164
Bartsocas-Papas Syndrome 2	Microphthalmia, 2-5 finger cutaneous syndactyly, Absent distal phalanges, Small hand	OMIM:619339
Sandestig-Stefanova Syndrome	Rocker bottom foot, Camptodactyly, Microphthalmia, Clinodactyly, Intrauterine growth retardation	OMIM:618804
Trisomy 13	Anophthalmia, Postaxial hand polydactyly, Aplasia/Hypoplasia of the iris, Ectrodactyly, Microphth...	ORPHA:3378
Adams-Oliver Syndrome	Gastrointestinal hemorrhage, Encephalocele, Finger syndactyly, Brachydactyly, Portal hypertension...	ORPHA:974
Cutis Laxa, Autosomal Recessive, Type Ib	Inguinal hernia, Congenital diaphragmatic hernia	OMIM:614437
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Ventricular septal defect, Congenital diaphragmatic hernia, Partial anomalous pulmonary venous re...	OMIM:301044
Ablepharon Macrostomia Syndrome	Omphalocele, Umbilical hernia, Camptodactyly of finger	ORPHA:920
Pseudoaminopterin Syndrome	Posterolateral diaphragmatic hernia, Inguinal hernia, Patent foramen ovale	ORPHA:221120
Hydrolethalus	Anophthalmia, Micromelia, Postaxial hand polydactyly, Anencephaly, Microphthalmia	ORPHA:2189
Anterior Segment Dysgenesis 5	Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia	OMIM:604229
Curry-Jones Syndrome	Finger syndactyly, Toe syndactyly, Abnormality of thumb phalanx, Preaxial hand polydactyly, Foot ...	ORPHA:1553
Neurooculocardiogenitourinary Syndrome	Microphthalmia, Tricuspid regurgitation	OMIM:618652
Martsolf Syndrome 1	Short metacarpal, Cardiac arrest, Metatarsus adductus, Congestive heart failure, Short toe, Osteo...	OMIM:212720
Cardiospondylocarpofacial Syndrome	Ventricular septal defect, Congenital diaphragmatic hernia, Muscular ventricular septal defect, D...	OMIM:157800
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Omphalocele, Ventricular septal defect, Interphalangeal joint contracture of finger, Diastasis re...	ORPHA:96334
Joubert Syndrome 14	Encephalocele, Postaxial polydactyly, Meningocele, Intracranial hemorrhage, Hypertension, Microph...	OMIM:614424
Monosomy 18P	Microphthalmia, Hypertension, Brachydactyly	ORPHA:1598
Shprintzen Omphalocele Syndrome	Omphalocele	OMIM:182210
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay	Congenital diaphragmatic hernia, Abnormal heart morphology	OMIM:617641
Congenital Muscular Dystrophy With Cerebellar Involvement	Microphthalmia, Occipital encephalocele, Optic nerve hypoplasia, Cardiomyopathy	ORPHA:370959
Baraitser-Winter Syndrome 2	Microphthalmia	OMIM:614583
Kabuki Syndrome	Abnormal cardiac septum morphology, Congenital diaphragmatic hernia	ORPHA:2322
Microphthalmia With Linear Skin Defects Syndrome	Abnormal dental enamel morphology, Congenital diaphragmatic hernia, Dilated cardiomyopathy, Mitra...	ORPHA:2556
Rhabdoid Tumor	Hypertension, Internal hemorrhage	ORPHA:69077
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Microphthalmia	OMIM:613730
Oculogastrointestinal Neurodevelopmental Syndrome	Bilateral microphthalmos, Unilateral microphthalmos	OMIM:619318
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Coxa valga, Hemiatrophy of upper limb, Abnormal femoral neck/head morphology, Wide proximal femor...	ORPHA:163649
Secondary Short Bowel Syndrome	Gastroschisis	ORPHA:95427
Simpson-Golabi-Behmel Syndrome, Type 1	Inguinal hernia, Ventricular septal defect, Facial hypotonia, Congenital diaphragmatic hernia, Di...	OMIM:312870
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Broad proximal phalanges of the hand, Optic nerve hypoplasia, Bilateral microphthalmos, Short foo...	OMIM:607597
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Encephalocele, Microphthalmia, Intrauterine growth retardation	ORPHA:228390
Vitreoretinochoroidopathy	Microphthalmia, Vitreous hemorrhage, Retinal neovascularization	OMIM:193220
C Syndrome	Omphalocele, Aplasia/Hypoplasia of the abdominal wall musculature, Congenital diaphragmatic hernia	ORPHA:1308
Pelvis-Shoulder Dysplasia	Clinodactyly of the 5th finger, Microphthalmia, Spina bifida occulta	OMIM:169550
3P25.3 Microdeletion Syndrome	Broad hallux, Overlapping toe, Proximal placement of thumb, Tapered finger, Postaxial polydactyly...	ORPHA:435638
Poland Syndrome	Dextrocardia, Congenital diaphragmatic hernia, Aplasia of the pectoralis major muscle, Absence of...	ORPHA:2911
Refsum Disease	Short metacarpal, Heart block, Cardiomyopathy, Hammertoe, Microphthalmia	ORPHA:773
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Microphthalmia	OMIM:613153
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Microphthalmia, Heart murmur, Intrauterine growth retardation	ORPHA:2728
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Microphthalmia	OMIM:601794
Meckel Syndrome, Type 1	Omphalocele, Abnormal cardiac septum morphology, Camptodactyly of finger	OMIM:249000
Coffin-Siris Syndrome 1	Inguinal hernia, Ventricular septal defect, Congenital diaphragmatic hernia, Atrial septal defect...	OMIM:135900
Nance-Horan Syndrome	Microphthalmia, Short metacarpal	ORPHA:627
Focal Dermal Hypoplasia	Omphalocele, Inguinal hernia, Diastasis recti, Congenital diaphragmatic hernia, Hiatus hernia, Um...	OMIM:305600
Complete Atrioventricular Septal Defect	Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, Displacement o...	ORPHA:1329
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Microphthalmia, Hypertrophic cardiomyopathy	OMIM:619053
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Microphthalmia	ORPHA:363741
Microphthalmia With Brain And Digit Anomalies	Finger syndactyly, Anophthalmia, Proximal placement of thumb, Postaxial foot polydactyly, Microph...	ORPHA:139471
Fanconi Anemia, Complementation Group I	Optic nerve hypoplasia, Absent thumb, Short thumb, Hypoplasia of the radius, Microphthalmia, Shor...	OMIM:609053
Adams-Oliver Syndrome 2	Microphthalmia, Absent distal phalanges, Short middle phalanx of finger	OMIM:614219
Microphthalmia-Brain Atrophy Syndrome	Bilateral microphthalmos	ORPHA:77299
Oeis Complex	Omphalocele, Bladder exstrophy, Cloacal exstrophy	OMIM:258040
Familial Exudative Vitreoretinopathy	Microphthalmia, Macular telangiectasia, Vitreous hemorrhage, Retinal neovascularization	ORPHA:891
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Absent radius, Aplasia of the 1st metaca...	ORPHA:1352
Congenital Tricuspid Valve Dysplasia	Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri...	ORPHA:555874
Frontonasal Dysplasia 3	Microphthalmia	OMIM:613456
Deafness, X-Linked 7	Unilateral microphthalmos	OMIM:301018
Spondylo-Ocular Syndrome	Microphthalmia, Aplasia/Hypoplasia of the lens	ORPHA:85194
Acrorenal-Mandibular Syndrome	Elbow flexion contracture, Congenital diaphragmatic hernia	OMIM:200980
Microcephaly-Micromelia Syndrome	Micromelia, Absent thumb, Absent radius, Short tibia, Humeroradial synostosis, Forearm undergrowt...	OMIM:251230
Baraitser-Winter Syndrome 1	Microphthalmia, Aortic valve stenosis, Duplication of phalanx of hallux	OMIM:243310
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Microphthalmia, Broad hallux	OMIM:614105
Nasopalpebral Lipoma-Coloboma Syndrome	Clinodactyly of the 5th finger, Microphthalmia	OMIM:167730
Joubert Syndrome 37	Microphthalmia, Postaxial polydactyly	OMIM:619185
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Microphthalmia, Optic nerve hypoplasia	OMIM:614833
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Prominent fingertip pads, Microphthalmia, Overlapping fingers, Overlapping toe	OMIM:618494
Monosomy 9P	Hernia, Congenital diaphragmatic hernia	ORPHA:261112
Linear Skin Defects With Multiple Congenital Anomalies 3	Cardiac arrest, Dilated cardiomyopathy, Ventricular tachycardia, Histiocytoid cardiomyopathy, Mic...	OMIM:300952
Cerebrooculofacioskeletal Syndrome 4	Rocker bottom foot, Camptodactyly of finger, Bilateral microphthalmos, Flared metaphysis, Adducte...	OMIM:610758
Bladder Exstrophy And Epispadias Complex	Inguinal hernia, Bladder exstrophy	OMIM:600057
Inhalational Anthrax	Internal hemorrhage, Hypotension	ORPHA:247257
Fanconi Anemia, Complementation Group S	Microphthalmia, Clinodactyly, Proximal placement of thumb	OMIM:617883
Charge Syndrome	Omphalocele, Overriding aorta, Ventricular septal defect, Facial palsy, Secundum atrial septal de...	OMIM:214800
Multiple Benign Circumferential Skin Creases On Limbs	Microphthalmia, Umbilical hernia, Congestive heart failure	ORPHA:2505
Genitourinary And/Or Brain Malformation Syndrome	Omphalocele	OMIM:618820
Marden-Walker Syndrome	Arachnodactyly, Radioulnar synostosis, Talipes equinovarus, Camptodactyly, Microphthalmia, Intrau...	OMIM:248700
Chromosome 17Q12 Duplication Syndrome	Microphthalmia, Broad thumb, Brachydactyly	OMIM:614526
Ablepharon-Macrostomia Syndrome	Ventral hernia, Omphalocele, Camptodactyly	OMIM:200110
Anterior Segment Dysgenesis 2	Aniridia, Microphthalmia, Congenital aphakia, Anterior segment of eye aplasia	OMIM:610256
Rere-Related Neurodevelopmental Syndrome	Microphthalmia, Intrauterine growth retardation	ORPHA:494344
Myoclonic-Astatic Epilepsy	Microphthalmia, Syndactyly	ORPHA:1942
Microcephaly 20, Primary, Autosomal Recessive	Microphthalmia, Optic nerve hypoplasia, Intrauterine growth retardation	OMIM:617914
Idiopathic Uveal Effusion Syndrome	Microphthalmia	ORPHA:209956
Chromosome 13Q33-Q34 Deletion Syndrome	Encephalocele, Overlapping toe, Tapered finger, Short thumb, Anencephaly, Cutaneous syndactyly, T...	OMIM:619148
Exudative Vitreoretinopathy 2, X-Linked	Microphthalmia, Retinal neovascularization	OMIM:305390
Histiocytoid Cardiomyopathy	Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Junctional ecto...	ORPHA:137675
Holoprosencephaly 7	Omphalocele	OMIM:610828
Down Syndrome	Ventricular septal defect, Complete atrioventricular canal defect, Partial anomalous pulmonary ve...	OMIM:190685
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Postaxial polydactyly, 2-3 toe syndactyly, Postaxial foot polydactyly, Broad distal phalanx of fi...	ORPHA:404440
Meckel Syndrome 14	Occipital encephalocele, Syndactyly, Tricuspid regurgitation, Bowing of the long bones, Postaxial...	OMIM:619879
Oculofaciocardiodental Syndrome	Short thumb, 2-3 toe syndactyly, Genu valgum, Hammertoe, Flexion contracture of the 2nd toe, Radi...	ORPHA:2712
Cornea Plana 2, Autosomal Recessive	Microphthalmia	OMIM:217300
Frontofacionasal Dysplasia	Encephalocele, Microphthalmia	ORPHA:1791
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Small hand, Short foot, Severe intrauterine growth retardation, Short palm, Microphthalmia	OMIM:241410
Gracile Bone Dysplasia	Aniridia, Microphthalmia, Flared metaphysis, Brachydactyly	OMIM:602361
Anterior Segment Dysgenesis 7	Buphthalmos, Microphthalmia	OMIM:269400
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Microphthalmia	OMIM:152950
Diaphragmatic Hernia 4, With Cardiovascular Defects	Diaphragmatic eventration, Aplasia of the left hemidiaphragm, Ventricular septal defect, Aortopul...	OMIM:620025
Stevenson-Carey Syndrome	Microphthalmia, Camptodactyly	OMIM:611961
Congenital Disorder Of Glycosylation, Type Iq	Microphthalmia	OMIM:612379
Frontorhiny	Encephalocele, Camptodactyly of finger, Finger clinodactyly, Basal encephalocele, Cranium bifidum...	ORPHA:391474
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Microphthalmia, Abnormally large globe	OMIM:615249
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Syndactyly, Bilateral microphthalmos, Camptodactyly, Umbilical hernia, Clinodactyly	ORPHA:369891
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Buphthalmos, Microphthalmia	OMIM:212550
Crimean-Congo Hemorrhagic Fever	Bundle branch block, Abnormal left ventricular function, Ecchymosis, Internal hemorrhage, Hemoper...	ORPHA:99827
Trichothiodystrophy 3, Photosensitive	Microphthalmia, Intrauterine growth retardation	OMIM:616395
Diaphanospondylodysostosis	Abnormal liver lobulation	OMIM:608022
Wiskott-Aldrich Syndrome	Prolonged bleeding time, Recurrent intrapulmonary hemorrhage, Epistaxis, Sudden cardiac death, He...	ORPHA:906
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Atrial septal defect, Umbilical hernia, Inguinal hernia, Omphalocele	OMIM:308205
Curry-Jones Syndrome	Duplication of thumb phalanx, Preaxial hand polydactyly, Lipomyelomeningocele, 2-3 finger syndact...	OMIM:601707
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Microphthalmia	ORPHA:231736
Kapur-Toriello Syndrome	Overlapping fingers, Camptodactyly of finger, Short thumb, Microphthalmia, Clinodactyly of the 5t...	OMIM:244300
Pelvis-Shoulder Dysplasia	Syndactyly, Camptodactyly of finger, Spina bifida, Aplasia/Hypoplasia of the fibula, Mesomelic/rh...	ORPHA:2839
Fanconi Anemia, Complementation Group R	Microphthalmia, Radial dysplasia, Absent thumb	OMIM:617244
Ritscher-Schinzel Syndrome 3	Hypoplasia of the ulna, Ulnar bowing, Shortening of all distal phalanges of the fingers, Short fi...	OMIM:619135
Heart And Brain Malformation Syndrome	Hand clenching, Microphthalmia, Camptodactyly of finger	OMIM:616920
Otopalatodigital Syndrome, Type Ii	Atrial septal defect, Umbilical hernia, Omphalocele, Elbow contracture	OMIM:304120
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Omphalocele, Camptodactyly of finger, Inguinal hernia, Abnormal dental enamel morphology	ORPHA:2273
Duane-Radial Ray Syndrome	Syndactyly, Hypoplasia of the ulna, Radial deviation of the hand, Optic disc hypoplasia, Sandal g...	OMIM:607323
Incontinentia Pigmenti	Finger syndactyly, Telangiectasia of the skin, Camptodactyly of finger, Congestive heart failure,...	ORPHA:464
Leopard Syndrome 1	Scapular winging, Complete atrioventricular canal defect, Mitral valve prolapse, Pulmonic stenosi...	OMIM:151100
Cousin Syndrome	Rhizomelia, Dislocation of the femoral head, 4-5 toe syndactyly, Humeroradial synostosis, 2-3 toe...	OMIM:260660
Basel-Vanagaite-Smirin-Yosef Syndrome	Microphthalmia, Pulmonary arterial hypertension, 2-3 toe syndactyly	OMIM:616449
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Bowing of the legs, Fl...	ORPHA:85167
Rodrigues Blindness	Microphthalmia	OMIM:268320
Microphthalmia, Syndromic 5	Microphthalmia, Anophthalmia, Optic nerve hypoplasia	OMIM:610125
Solitary Median Maxillary Central Incisor	Microphthalmia, Anophthalmia	OMIM:147250
Nasopalpebral Lipoma-Coloboma Syndrome	Clinodactyly of the 5th finger, Microphthalmia, Bilateral microphthalmos	ORPHA:2399
Cornelia De Lange Syndrome	Atrial septal defect, Ventricular septal defect, Congenital diaphragmatic hernia	ORPHA:199
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Complete atrioventricular canal defect	ORPHA:476126
Persistent Hyperplastic Primary Vitreous	Phthisis bulbi, Buphthalmos, Macular hypoplasia, Microphthalmia, Hemorrhage of the eye	ORPHA:91495
2Q31.1 Microdeletion Syndrome	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Sandal gap, Abnormal morphology of ulna,...	ORPHA:251014
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Clinodactyly of the 5th finger, Microphthalmia	OMIM:617306
Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	ORPHA:2717
Otodental Syndrome	Microphthalmia, Lens coloboma	ORPHA:2791
Witteveen-Kolk Syndrome	Inguinal hernia, Congenital diaphragmatic hernia, Contracture of the distal interphalangeal joint...	OMIM:613406
1Q21.1 Microdeletion Syndrome	Broad hallux phalanx, Toe syndactyly, Short foot, Hand polydactyly, Talipes equinovarus, Foot pol...	ORPHA:250989
Osteopetrosis, Autosomal Recessive 8	Unilateral microphthalmos	OMIM:615085
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Microphthalmia, Anophthalmia	ORPHA:77298
Basel-Vanagaite-Smirin-Yosef Syndrome	Finger syndactyly, Overlapping fingers, Overlapping toe, Deviation of the 2nd finger, 2-3 toe syn...	ORPHA:464738
Fraser Syndrome	Omphalocele, Umbilical hernia	ORPHA:2052
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Prominent fingertip pads, Microphthalmia, Joint contracture of the 5th finger, 2-3 toe syndactyly	OMIM:620098
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Buphthalmos, Microphthalmia, Phthisis bulbi, Hyphema	OMIM:221900
3Q29 Microduplication Syndrome	Toe syndactyly, Sandal gap, Aniridia, Microphthalmia, Camptodactyly of toe	ORPHA:251038
Hemorrhagic Fever-Renal Syndrome	Shock, Tachycardia, Epistaxis, Hematemesis, Capillary leak, Intracranial hemorrhage, Melena, Hype...	ORPHA:340
Warburg Micro Syndrome 3	Clinodactyly of the 5th finger, Microphthalmia	OMIM:614222
Cohen Syndrome	Finger syndactyly, Arachnodactyly, Sandal gap, Tapered finger, Slender toe, Genu valgum, Clinodac...	ORPHA:193
Galloway-Mowat Syndrome 3	Arachnodactyly, Hypertension, Camptodactyly, Microphthalmia, Intrauterine growth retardation	OMIM:617729
Walker-Warburg Syndrome	Metatarsus valgus, Microphthalmia, Anophthalmia	ORPHA:899
Mosaic Trisomy 9	Rocker bottom foot, Micromelia, Spina bifida, Camptodactyly of finger, Finger clinodactyly, Talip...	ORPHA:99776
Hypoglossia-Hypodactyly Syndrome	Gastroschisis	ORPHA:989
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Encephalocele, Microphthalmia, Dilated cardiomyopathy, Pulmonic stenosis	OMIM:253800
Nance-Horan Syndrome	Microphthalmia, Short phalanx of finger, Broad finger	OMIM:302350
Oculodentodigital Dysplasia, Autosomal Recessive	Fifth finger distal phalanx clinodactyly, 4-5 finger syndactyly, 3-4 finger cutaneous syndactyly,...	OMIM:257850
Warburg Micro Syndrome 4	Microphthalmia	OMIM:615663
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Sandal gap, Broad hallux, Microphthalmia, Clinodactyly, 3-4 toe syndactyly, Brachydactyly	OMIM:618727
Acro-Renal-Ocular Syndrome	Finger syndactyly, Hypoplasia of the ulna, Broad hallux phalanx, Optic disc hypoplasia, Toe synda...	ORPHA:959
Pallister-Killian Syndrome	Omphalocele, Inguinal hernia, Ventricular septal defect, Congenital diaphragmatic hernia, Flexion...	OMIM:601803
3Q29 Microdeletion Syndrome	Clinodactyly of the 5th finger, Microphthalmia, Pulmonary arterial hypertension, Tapered finger	ORPHA:65286
Chondrodysplasia Punctata 2, X-Linked Dominant	Rhizomelia, Postaxial polydactyly, Stippled calcification in carpal bones, Bilateral talipes equi...	OMIM:302960
Warburg Micro Syndrome 2	Overlapping toe, Microphthalmia, Clinodactyly of the 4th toe, Clinodactyly of the 5th toe	OMIM:614225
Fanconi Anemia, Complementation Group F	Absent thumb, Short thumb, Hypoplasia of the radius, 2-3 finger syndactyly, Microphthalmia, Intra...	OMIM:603467
Micro Syndrome	Microphthalmia, Intrauterine growth retardation	ORPHA:2510
Microphthalmia With Limb Anomalies	Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of the 5th finge...	ORPHA:1106
Teebi-Shaltout Syndrome	Syndactyly, Ulnar deviation of the hand, Rocker bottom foot, Metatarsus adductus, Talipes equinov...	OMIM:272950
Atelis Syndrome 2	Supravalvar pulmonary stenosis, Vitreous hemorrhage, Pulmonic stenosis, Microphthalmia, Clinodactyly	OMIM:620185
Vacterl With Hydrocephalus	Anophthalmia, Spina bifida, Hypoplasia of the radius, Microphthalmia, Intrauterine growth retarda...	ORPHA:3412
Frontonasal Dysplasia 2	Encephalocele, Microphthalmia, Intrauterine growth retardation	OMIM:613451
Xeroderma Pigmentosum, Complementation Group D	Microphthalmia, Corneal neovascularization, Telangiectasia	OMIM:278730
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Microphthalmia, Overlapping toe	OMIM:618571
Galloway-Mowat Syndrome 1	Hypoplasia of the iris, Talipes equinovarus, Camptodactyly, Hand clenching, Microphthalmia, Slend...	OMIM:251300
Oculopalatocerebral Syndrome	Microphthalmia	OMIM:257910
8Q24.3 Microdeletion Syndrome	Inguinal hernia, Ventricular septal defect, Complete atrioventricular canal defect, Abnormal hear...	ORPHA:508488
Microphthalmia, Isolated, With Coloboma 9	Microphthalmia	OMIM:615145
Pallister-Hall Syndrome	Syndactyly, Mesoaxial foot polydactyly, Toe syndactyly, Mesoaxial hand polydactyly, Postaxial han...	OMIM:146510
Coloboma, Ocular, Autosomal Dominant	Microphthalmia, Optic nerve aplasia	OMIM:120200
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Proximal placement of thumb, Short metatarsal, Hand monodactyly, Patellar hypoplasia, Short phala...	OMIM:609945
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Anophthalmia, Rhizomelia, 2-3 toe syndactyly, Microphthalmia, 3-4 finger syndactyly	OMIM:615877
X-Linked Dominant Chondrodysplasia Punctata	Microphthalmia, Talipes equinovarus	ORPHA:35173
Meier-Gorlin Syndrome 7	Atrial septal defect, Complete atrioventricular canal defect, Ventricular septal defect	OMIM:617063
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Buphthalmos, Microphthalmia	OMIM:616538
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Buphthalmos, Microphthalmia, Encephalocele	OMIM:613150
Hallermann-Streiff Syndrome	Spina bifida, Metaphyseal widening, Telangiectasia, Hypertension, Pulmonary arterial hypertension...	OMIM:234100
Microphthalmia, Lenz Type	Finger syndactyly, Camptodactyly of finger, Clinodactyly of the 5th finger, Microphthalmia, Compl...	ORPHA:568
Oculo-Palato-Cerebral Syndrome	Short foot, Microphthalmia, Small hand, Intrauterine growth retardation	ORPHA:2714
Kapur-Toriello Syndrome	Microphthalmia	ORPHA:2328
Norrie Disease	Hypoplasia of the iris, Microphthalmia, Buphthalmos	OMIM:310600
Joubert Syndrome 2	Encephalocele, Microphthalmia, Postaxial foot polydactyly, Postaxial hand polydactyly	OMIM:608091
Roberts Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Bowing of the long bones, Sand...	ORPHA:3103
Trichothiodystrophy 4, Nonphotosensitive	Microphthalmia	OMIM:234050
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Aortic regurgitation, Broad hallux, Optic nerve hypoplasia, Spina bifida, Overlapping toe, Preaxi...	ORPHA:508498
8Q21.11 Microdeletion Syndrome	Microphthalmia, Finger syndactyly, Camptodactyly of finger, Abnormal metacarpal morphology	ORPHA:284160
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Encephalocele, Microphthalmia, Optic nerve hypoplasia, Adducted thumb	OMIM:614643
Pierson Syndrome	Rieger anomaly, Hypoplasia of the ciliary body, Retinal hemorrhage, Hypoplasia of the iris, Hyper...	OMIM:609049
Skin Creases, Congenital Symmetric Circumferential, 1	Long fingers, Microphthalmia	OMIM:156610
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Aplasia of the distal phalanx of the 5th toe, Aplasia of the distal phalanx of the 5th finger, Mi...	ORPHA:364577
Chromosome 8Q21.11 Deletion Syndrome	Microphthalmia, Short metacarpal, Camptodactyly, Syndactyly	OMIM:614230
Ectodermal Dysplasia-Blindness Syndrome	Microphthalmia	ORPHA:1806
Ohdo Syndrome, X-Linked	Ulnar deviation of the hand, Overlapping toe, Short thumb, Long thumb, Microphthalmia, Clinodactyly	OMIM:300895
Tetraamelia-Multiple Malformations Syndrome	Microphthalmia, Septo-optic dysplasia	ORPHA:3301
Trichothiodystrophy 1, Photosensitive	Microphthalmia, Telangiectasia	OMIM:601675
Premature Aging Syndrome, Penttinen Type	Brachydactyly, Tibial bowing, Short foot, Osteolytic defects of the distal phalanges of the hand,...	OMIM:601812
Fanconi Anemia, Complementation Group C	Absent thumb, Absent radius, Short thumb, Microphthalmia, Complete duplication of thumb phalanx, ...	OMIM:227645
Adams-Oliver Syndrome 1	Encephalocele, Toe syndactyly, Hypertension, Pulmonary arterial hypertension, Talipes equinovarus...	OMIM:100300
Cat Eye Syndrome	Absent radius, Microphthalmia, Umbilical hernia, Pulmonic stenosis	OMIM:115470
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Omphalocele	ORPHA:93271
Hellp Syndrome	Prolonged prothrombin time, Cerebral hemorrhage, Internal hemorrhage, Hypotension	ORPHA:244242
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Occipital encephalocele, Optic nerve hypoplasia, Meningoencephalocele, Buphthalmos, Microphthalmia	OMIM:236670
Encephalocraniocutaneous Lipomatosis	Hypoplasia of the iris, Microphthalmia	OMIM:613001
Oculoauricular Syndrome	Phthisis bulbi, Macular hypoplasia, Microphakia, Microphthalmia, Spina bifida occulta	OMIM:612109
Papillorenal Syndrome	Microphthalmia, Hypertension	OMIM:120330
Fanconi Anemia, Complementation Group E	Absent thumb, Absent radius, Short thumb, Microphthalmia, Complete duplication of thumb phalanx	OMIM:600901
Basal Cell Nevus Syndrome 1	Spina bifida, Irregular ossification of hand bones, Polydactyly, Short distal phalanx of the thum...	OMIM:109400
Oculodentodigital Dysplasia	4-5 finger syndactyly, Joint contracture of the 5th finger, Arrhythmia, Short middle phalanx of t...	OMIM:164200
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Complete atrioventricular canal defect, Tetralogy of Fallot	OMIM:617925
Marburg Hemorrhagic Fever	Abnormal bleeding, Shock, Tachycardia, Pericarditis, Excessive bleeding after a venipuncture, Hyp...	ORPHA:99826
Fanconi Anemia	Finger syndactyly, Hypoplasia of the ulna, Toe syndactyly, Abnormal morphology of ulna, Spina bif...	ORPHA:84
Fanconi Anemia, Complementation Group A	Absent thumb, Absent radius, Short thumb, Microphthalmia, Complete duplication of thumb phalanx	OMIM:227650
Chilton-Okur-Chung Neurodevelopmental Syndrome	Patent foramen ovale, Aplasia of the right hemidiaphragm, Limb hypertonia	OMIM:619841
Jacobsen Syndrome	Macular hypoplasia, Clinodactyly of the 5th finger, Microphthalmia, Intrauterine growth retardati...	OMIM:147791
Yunis-Varon Syndrome	Aplasia of the distal phalanges of the hand, Abnormal finger morphology, Aplasia of the 1st metac...	ORPHA:3472
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Microphthalmia, Camptodactyly of finger, Broad thumb, Tapered finger	ORPHA:1236
Microgastria-Limb Reduction Defect Syndrome	Abnormal morphology of the radius, Anophthalmia, Abnormality of the humerus, Short thumb, Abnorma...	ORPHA:2538
Myhre Syndrome	Brachydactyly, Overlapping toe, Short toe, 2-3 toe syndactyly, Hypertension, Aortic valve stenosi...	OMIM:139210
Duplication Of Urethra	Gastroschisis	ORPHA:237
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Portal hypertension, Tapered finger, Small hand, Pulmonary arterial hypertension, Microphthalmia,...	OMIM:620005
Lymphedema-Distichiasis Syndrome	Microphthalmia, Arrhythmia	OMIM:153400
Fanconi Anemia, Complementation Group L	Absent thumb, Absent radius, Bilateral talipes equinovarus, Microphthalmia, Intrauterine growth r...	OMIM:614083
Dubowitz Syndrome	Syndactyly, Hypoplasia of the iris, Clinodactyly of the 5th finger, Microphthalmia, Intrauterine ...	OMIM:223370
Stromme Syndrome	Microphthalmia, Preaxial polydactyly, Optic nerve hypoplasia	OMIM:243605
Momo Syndrome	Large hands, Bilateral microphthalmos, Femoral bowing	ORPHA:2563
Meckel Syndrome	Encephalocele, Bowing of the long bones, Anophthalmia, Preaxial hand polydactyly, Postaxial hand ...	ORPHA:564
Rothmund-Thomson Syndrome, Type 2	Short thumb, Small hand, Telangiectasia, Short foot, Talipes equinovarus, Short palm, Microphthalmia	OMIM:268400
Mend Syndrome	Overlapping fingers, Broad hallux, Overlapping toe, Long fingers, 2-3 toe syndactyly, Hand polyda...	ORPHA:401973
Hallermann-Streiff Syndrome	Congestive heart failure, Small hand, Short foot, Clinodactyly of the 5th finger, Microphthalmia	ORPHA:2108
Incontinentia Pigmenti	Hypoplasia of the fovea, Microphthalmia, Retinal hemorrhage	OMIM:308300
Mosaic Variegated Aneuploidy Syndrome	Aortic regurgitation, Microphthalmia, Clinodactyly of the 5th finger, Intrauterine growth retarda...	ORPHA:1052
Microphthalmia, Syndromic 2	Anophthalmia, Broad hallux, Sandal gap, 2-3 toe cutaneous syndactyly, Phthisis bulbi, 2-3 toe syn...	OMIM:300166
Monosomy 13Q14	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Clinodactyly of the 5th finger...	ORPHA:1587
22Q11.2 Deletion Syndrome	Gastrointestinal hemorrhage, Arachnodactyly, Spina bifida, Meningocele, Occipital myelomeningocel...	ORPHA:567
Superficial Siderosis	Abnormal bleeding, Persistent bleeding after trauma, Internal hemorrhage, Subarachnoid hemorrhage	ORPHA:247245
Cockayne Syndrome B	Ivory epiphyses of the phalanges of the hand, Hypoplasia of the iris, Hypertension, Microphthalmi...	OMIM:133540
Monosomy 9Q22.3	Microphthalmia, Umbilical hernia, Polydactyly	ORPHA:77301
Yellow Fever	Abnormal bleeding, Shock, Supraventricular arrhythmia, Excessive bleeding after a venipuncture, H...	ORPHA:99829
Microphthalmia, Syndromic 3	Microphthalmia, Optic nerve aplasia, Anophthalmia, Optic nerve hypoplasia	OMIM:206900
Neu-Laxova Syndrome 1	Finger syndactyly, Toe syndactyly, Rocker bottom foot, Spina bifida, Micromelia, Long fingers, Cl...	OMIM:256520
Xeroderma Pigmentosum, Complementation Group B	Microphthalmia	OMIM:610651
Fanconi Anemia, Complementation Group D2	Absent thumb, Absent radius, Preaxial hand polydactyly, Short thumb, Partial duplication of thumb...	OMIM:227646
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Unilateral microphthalmos, Adducted thumb	OMIM:618874
Acrofrontofacionasal Dysostosis 1	Microphthalmia, Short metacarpal, Broad thumb, Short distal phalanx of finger	OMIM:201180
Steinfeld Syndrome	Microphthalmia, Aplasia/Hypoplasia of the thumb, Hypoplasia of the radius, Hypoplasia of the ulna	OMIM:184705
Cockayne Syndrome Type 3	Subdural hemorrhage, Retinal hemorrhage, Cardiomyopathy, Increased blood pressure, Microphthalmia	ORPHA:90324
Blepharophimosis, Ptosis, And Epicanthus Inversus	Microphthalmia	OMIM:110100
Trichothiodystrophy	Bilateral microphthalmos, Clubbing, Cardiomyopathy, Umbilical hernia, Intrauterine growth retarda...	ORPHA:33364
Phace Association	Microphthalmia, Optic nerve hypoplasia	OMIM:606519
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Branchial cyst, Broad hallux, Pulmonary arterial hypertension, Microphthalmia, Clinodactyly, Intr...	OMIM:620186
Liver Disease, Severe Congenital	Elevated hepatic transaminase, Hepatomegaly, Biliary hyperplasia, Intrahepatic cholestasis, Jaund...	OMIM:619991
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Clinodactyly of the 5th finger, Microphthalmia, Syndactyly, Intrauterine growth retardation	OMIM:616975
Degcags Syndrome	Syndactyly, Tachycardia, Toe syndactyly, Short thumb, Preaxial hand polydactyly, Genu valgum, Pul...	OMIM:619488
Treacher-Collins Syndrome	Encephalocele, Microphthalmia, Branchial fistula	ORPHA:861
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Aplasia of the distal phalanx of the 5th toe, Aplasia of the distal phalanx of the 5th finger, Sh...	OMIM:608670
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Microphthalmia, Anophthalmia	ORPHA:2250
Sarcoidosis	Hepatomegaly, Portal hypertension, Abnormal liver parenchyma morphology, Decreased liver function...	ORPHA:797
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Camptodactyly of finger, Finger clinodactyly, Cranium bifidum occultum, Microphthalmia, Brachydac...	ORPHA:306542
Aicardi Syndrome	Microphthalmia, Proximal placement of thumb, Spina bifida	OMIM:304050
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Microphthalmia, Broad hallux, Arachnodactyly, Short finger	OMIM:601552
Kenny-Caffey Syndrome, Type 2	Microphthalmia, Abnormality of the medullary cavity of the long bones	OMIM:127000
Fontaine Progeroid Syndrome	Syndactyly, Tricuspid regurgitation, Pulmonary arterial hypertension, Umbilical hernia, Absent di...	OMIM:612289
Fraser Syndrome 2	Microphthalmia, Cutaneous syndactyly	OMIM:617666
Holoprosencephaly 9	Microphthalmia, Postaxial hand polydactyly, Anophthalmia, Optic nerve hypoplasia	OMIM:610829
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	2-5 finger syndactyly, Optic nerve hypoplasia, Camptodactyly of finger, 4-5 finger syndactyly, Bi...	ORPHA:468631
Oculocerebrorenal Syndrome Of Lowe	Genu valgum, Buphthalmos, Umbilical hernia, Microphthalmia, Abnormal metaphysis morphology	ORPHA:534
Isolated Arrhinia	Microphthalmia	ORPHA:1134
Autosomal Dominant Kenny-Caffey Syndrome	Stenosis of the medullary cavity of the long bones, Bilateral microphthalmos, Cortical thickening...	ORPHA:93325
Osteoporosis-Pseudoglioma Syndrome	Microphthalmia, Metaphyseal widening, Phthisis bulbi, Tibial bowing	OMIM:259770
Skin Creases, Congenital Symmetric Circumferential, 2	Tapered finger, Long fingers, 2-3 toe syndactyly, Short palm, Clinodactyly of the 5th finger, Mic...	OMIM:616734
Linear Nevus Sebaceus Syndrome	Microphthalmia	ORPHA:2612
Aicardi Syndrome	Microphthalmia, Small hand	ORPHA:50
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Aortic regurgitation, Brachydactyly, Mesoaxial foot polydactyly, Overlapping toe, Broad hallux, D...	OMIM:612474
Charge Syndrome	Anophthalmia, Abnormal tibia morphology, Bifid femur, Clinodactyly of the 5th finger, Microphthal...	ORPHA:138
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Microphthalmia, Anophthalmia	ORPHA:2526
Frontofacionasal Dysplasia	Cranium bifidum occultum, Microphthalmia	OMIM:229400
Chromosome 13Q14 Deletion Syndrome	Clinodactyly of the 5th finger, Microphthalmia, Umbilical hernia, Overlapping toe	OMIM:613884
Cockayne Syndrome	Microphthalmia, Hypertension, Retinal hemorrhage	ORPHA:191
Neuroocular Syndrome	Hypoplasia of the fovea, Hyperextensibility of the finger joints, Tapered finger, Lens coloboma, ...	OMIM:619539
Phace Syndrome	Microphthalmia, Lens coloboma, Optic nerve hypoplasia	ORPHA:42775
Pallister-Hall Syndrome	Mesoaxial polydactyly, Brachydactyly, Toe syndactyly, Overlapping toe, Radial bowing, Broad toe, ...	ORPHA:672
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Cerebral hemorrhage, Retinal hemorrhage, Hypoplasia of the iris, Ischemic stroke, Microphthalmia,...	OMIM:175780
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Buphthalmos, Microphthalmia, Hypoplasia of the retina	OMIM:253280
Renpenning Syndrome 1	Clinodactyly of the 5th finger, Microphthalmia, Camptodactyly, Synostosis of the proximal phalanx...	OMIM:309500
Proboscis Lateralis	Microphthalmia, Anophthalmia, Optic nerve hypoplasia	ORPHA:141099
Fraser Syndrome 1	Encephalocele, Aplasia/Hypoplasia of the thumb, Anophthalmia, Myelomeningocele, Bilateral microph...	OMIM:219000
Bosma Arhinia Microphthalmia Syndrome	Microphthalmia	OMIM:603457
Microphthalmia, Syndromic 6	Finger syndactyly, Thumb contracture, Toe syndactyly, Anophthalmia, Short middle phalanx of finge...	OMIM:607932
Branchiooculofacial Syndrome	Anophthalmia, Proximal placement of thumb, Short thumb, Preaxial hand polydactyly, Branchial anom...	OMIM:113620
Roberts-Sc Phocomelia Syndrome	Hypoplasia of the ulna, Syndactyly, Short humerus, Aplasia of the ulna, Absent thumb, Absent radi...	OMIM:268300
Tuberous Sclerosis Complex	Hypertension, Internal hemorrhage	ORPHA:805
Lowe Oculocerebrorenal Syndrome	Microphthalmia, Finger swelling, Camptodactyly of finger, Genu valgum	OMIM:309000
Townes-Brocks Syndrome	Broad hallux phalanx, Toe syndactyly, Preaxial hand polydactyly, Partial duplication of thumb pha...	ORPHA:857
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Hallux valgus, Syndactyly, Long toe, Ulnar deviation of the hand, Broad hallux, Arachnodactyly, C...	ORPHA:261552
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Hallux valgus, Syndactyly, Long toe, Ulnar deviation of the hand, Broad hallux, Arachnodactyly, C...	ORPHA:261537
Norrie Disease	Hypoplasia of the iris, Microphthalmia, Aplasia/Hypoplasia of the lens	ORPHA:649
Mowat-Wilson Syndrome	Hallux valgus, Syndactyly, Long toe, Ulnar deviation of the hand, Broad hallux, Tapered finger, C...	ORPHA:2152
Vascular Ehlers-Danlos Syndrome	Abnormal bleeding, Telangiectasia of the skin, Transient ischemic attack, Short stature, Renovasc...	ORPHA:286
Mowat-Wilson Syndrome	Microphthalmia, Pulmonic stenosis	OMIM:235730
Pmm2-Cdg	Elevated hepatic transaminase, Hepatic fibrosis, Abnormal liver parenchyma morphology	ORPHA:79318
Holoprosencephaly 1	Microphthalmia	OMIM:236100
Treacher Collins Syndrome 1	Bilateral microphthalmos	OMIM:154500
Craniofacial Microsomia 1	Occipital encephalocele, Anophthalmia, Partial duplication of thumb phalanx, Genu valgum, Branchi...	OMIM:164210
Holoprosencephaly 2	Microphthalmia	OMIM:157170
Microphthalmia, Syndromic 1	Syndactyly, Anophthalmia, Radial deviation of finger, Camptodactyly, Prominent fingertip pads, Mi...	OMIM:309800
Atrophoderma Vermiculata	Heart block	ORPHA:79100
Keratosis Pilaris Atrophicans		OMIM:604093

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 Lrp1

This gene doesn't have any significant Histopathology hits. Please click here to see the raw data.

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 Lrp1.

No publications found that use IMPC mice or data for Lrp1.

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MGI Allele	Allele Type	Produced
Lrp1^{tm1.1(KOMP)Wtsi}	Reporter-tagged deletion allele (post Cre, with no selection cassette)	Mice
Lrp1^{tm1(KOMP)Wtsi}	Reporter-tagged deletion allele (with selection cassette)	Mice, Targeting vectors, ES Cells

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: Lrp1 MGI:96828

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Sleep Wake

Adult LacZ

X-ray

Embryo LacZ

X-ray

X-ray

X-ray

Eye Morphology

Gross Morphology Embryo E12.5

X-ray

Combined SHIRPA and Dysmorphology

Eye Morphology

Auditory Brain Stem Response

Human diseases caused by Lrp1 mutations

Histopathology

IMPC related publications

Order Mouse and ES Cells

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Access Data Release 20.1 Data