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Gene: Mmachc MGI:1914346

Gene Summary

Name:

methylmalonic aciduria cblC type, with homocystinuria

Synonyms:

1810037K07Rik

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage
edema	Mmachc^{tm1.1(NCOM)Mfgc}	HOM	E15.5
preweaning lethality, complete penetrance	Mmachc^{tm1.1(NCOM)Mfgc}	HOM	Early adult
abnormal lung morphology	Mmachc^{tm1.1(NCOM)Mfgc}	HET	Early adult
pallor	Mmachc^{tm1.1(NCOM)Mfgc}	HOM	E15.5
polydactyly	Mmachc^{tm1.1(NCOM)Mfgc}	HOM	E15.5
microphthalmia	Mmachc^{tm1.1(NCOM)Mfgc}	HOM	E15.5
anophthalmia	Mmachc^{tm1.1(NCOM)Mfgc}	HOM	E15.5
small kidney	Mmachc^{tm1.1(NCOM)Mfgc}	HET	Early adult
facial cleft	Mmachc^{tm1.1(NCOM)Mfgc}	HOM	E15.5
abnormal eye morphology	Mmachc^{tm1.1(NCOM)Mfgc}	HOM	E12.5
abnormal embryo size	Mmachc^{tm1.1(NCOM)Mfgc}	HOM	E15.5
enlarged lymph nodes	Mmachc^{tm1.1(NCOM)Mfgc}	HET	Early adult
abnormal epididymis morphology	Mmachc^{tm1.1(NCOM)Mfgc}	HET	Early adult
abnormal craniofacial morphology	Mmachc^{tm1.1(NCOM)Mfgc}	HOM	E15.5
preweaning lethality, incomplete penetrance	Mmachc^{tm1.1(NCOM)Mfgc}	HOM	Early adult

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lacZ Expression

No Adult expression data was found for this gene.

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

Anatomy	Images	Zygosity	Mutant Expr
Axial skeleton	N/A	heterozygote	0.0% (0 of 2)
	N/A		Ambiguous
Brain	N/A	heterozygote	50% (2 of 4)
Brain	N/A	homozygote	Ambiguous
Central nervous system ganglion	N/A	heterozygote	100% (2 of 2)
	N/A		Ambiguous
Ear	N/A	heterozygote	0.0% (0 of 4)
Ear	N/A	homozygote	Ambiguous
Embryo	N/A	heterozygote	100% (4 of 4)
Embryo	N/A	homozygote	100% (1 of 1)
Eye	N/A	heterozygote	50% (2 of 4)
Eye	N/A	homozygote	Ambiguous
Footplate	N/A	heterozygote	0.0% (0 of 4)
Footplate	N/A	homozygote	Ambiguous
Forebrain	N/A	heterozygote	50% (2 of 4)
Forebrain	N/A	homozygote	Ambiguous
Forelimb	N/A	heterozygote	50% (2 of 4)
Forelimb	N/A	homozygote	Ambiguous
Gut	N/A	heterozygote	0.0% (0 of 2)
	N/A		Ambiguous
Handplate	N/A	heterozygote	0.0% (0 of 4)
Handplate	N/A	homozygote	Ambiguous
Head	N/A	heterozygote	0.0% (0 of 4)
Head	N/A	homozygote	Ambiguous
Heart	N/A	heterozygote	50% (2 of 4)
Heart	N/A	homozygote	Ambiguous
Hindbrain	N/A	heterozygote	50% (2 of 4)
Hindbrain	N/A	homozygote	Ambiguous
Hindlimb	N/A	heterozygote	50% (2 of 4)
Hindlimb	N/A	homozygote	Ambiguous
Liver	N/A	heterozygote	50% (2 of 4)
Liver	N/A	homozygote	Ambiguous
Lung	N/A	heterozygote	50% (2 of 4)
Lung	N/A	homozygote	Ambiguous
Mandibular process	N/A	heterozygote	0.0% (0 of 4)
Mandibular process	N/A	homozygote	Ambiguous
Maxillary process	N/A	heterozygote	50% (2 of 4)
Maxillary process	N/A	homozygote	Ambiguous
Midbrain	N/A	heterozygote	50% (2 of 4)
Midbrain	N/A	homozygote	Ambiguous
Nose	N/A	heterozygote	0.0% (0 of 2)
	N/A		Ambiguous
Oral cavity	N/A	heterozygote	50% (2 of 4)
Oral cavity	N/A	homozygote	Ambiguous
Chorioallantoic placenta	N/A	heterozygote	100% (2 of 2)
	N/A		Ambiguous
Skeleton	N/A	heterozygote	0.0% (0 of 2)
	N/A		Ambiguous
Skin	N/A	heterozygote	50% (2 of 4)
Skin	N/A	homozygote	Ambiguous
Spinal cord	N/A	heterozygote	100% (2 of 2)
	N/A		Ambiguous
Tail somite	N/A	heterozygote	50% (2 of 4)
Tail somite	N/A	homozygote	Ambiguous
Tail	N/A	heterozygote	0.0% (0 of 4)
Tail	N/A	homozygote	Ambiguous
Trachea	N/A	heterozygote	0.0% (0 of 2)
	N/A		Ambiguous
Urinary system	N/A	heterozygote	100% (2 of 2)
	N/A		Ambiguous

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

Anatomy	Background staining in controls (WT)

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)
axial skeleton	Ambiguous
brain	0.0%
central nervous system ganglion	Ambiguous
ear	0.0%
embryo	0.0%
eye	0.0%
footplate	0.0%
forebrain	0.0%
forelimb	0.0%
gut	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%
placenta	Ambiguous
skeleton	Ambiguous
skin	0.0%
spinal cord	Ambiguous
tail	0.0%
tail somite group	0.0%
trachea	Ambiguous
urinary system	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.

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Immunophenotyping

Panel A FCS file(s)

6 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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MicroCT E14.5-E15.5

Embryo reconstruction

8 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Gross Morphology Embryo E14.5-E15.5

Images

11 Images

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Embryo LacZ

LacZ images wholemount

20 Images

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Gross Pathology and Tissue Collection

Images

9 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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Immunophenotyping

Panel B FCS file(s)

6 Images

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Eye Morphology

Images Ophthalmoscopy

1 Images

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Combined SHIRPA and Dysmorphology

Images

1 Images

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X-ray

XRay Images Hind Leg and Hip

1 Images

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Human diseases caused by Mmachc 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 Mmachc (2 diseases)
Human diseases predicted to be associated with Mmachc (1171 diseases)

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

Disease	Similarity of phenotypes	Matching phenotypes	Source
Methylmalonic Acidemia With Homocystinuria, Type Cblc		Atrophy of the spinal cord, Hydrocephalus, Dilated cardiomyopathy, Hydrops fetalis, Dehydration, ...	ORPHA:79282
Methylmalonic Aciduria And Homocystinuria, Cblc Type		Cystathioninuria, Homocystinuria	OMIM:277400

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

Disease	Matching phenotypes	Source
Syndactyly Type 2	Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff...	ORPHA:93403
Fryns Microphthalmia Syndrome	Microphthalmia, Anophthalmia, Facial cleft, Neural tube defect	OMIM:600776
Gombo Syndrome	Microphthalmia, Clinodactyly, Radial deviation of finger, Brachydactyly	OMIM:233270
Facial Clefting, Oblique, 1	Microphthalmia, Deep palmar crease, Tessier number 4 facial cleft	OMIM:600251
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Congenital Absence Of Upper Arm And Forearm With Hand Present	Syndactyly, Cleft palate, Abnormal heart morphology, Upper limb phocomelia, Abnormal cardiac sept...	ORPHA:294975
Syndactyly, Type Iv	1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me...	OMIM:186200
Synpolydactyly 1	2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac...	OMIM:186000
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Microphthalmia, Syndromic 12	Anophthalmia, Ventricular septal defect, Intestinal malrotation, Hypoplastic left atrium, Cleft p...	OMIM:615524
Anophthalmia Plus Syndrome	Anophthalmia, Spina bifida, Facial cleft, Cleft palate, Bilateral cleft lip and palate, Deviation...	ORPHA:1104
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Bilateral cleft palate, Short femur, Ventricular septal defect, Facial cleft, Anterior encephaloc...	OMIM:601357
Congenital Radioulnar Synostosis	Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of...	ORPHA:3269
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Optic nerve hypoplasia, Broad proximal phalanges of the hand, High, narrow palate, Bilateral micr...	OMIM:607597
Oculomaxillofacial Dysostosis	Brachydactyly, Camptodactyly of finger, Abnormality of the humerus, Facial cleft, Aplasia/Hypopla...	ORPHA:1794
Mosaic Trisomy 9	Micromelia, Polyhydramnios, Hydrops fetalis, Finger clinodactyly, High palate, Endocardial fibroe...	ORPHA:99776
Meckel Syndrome, Type 8	Encephalocele, Occipital encephalocele, Anophthalmia, Pericardial effusion, Cleft palate, Polydac...	OMIM:613885
Microphthalmia, Isolated, With Coloboma 10	Microphthalmia, Anophthalmia	OMIM:616428
Cerebrooculofacioskeletal Syndrome 3	Rocker bottom foot, Edema, Talipes equinovarus, Microphthalmia, Intrauterine growth retardation	OMIM:616570
Microphthalmia, Isolated, With Coloboma 5	Microphthalmia, Anophthalmia, Bilateral microphthalmos	OMIM:611638
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Triphalangeal Thumb, Nonopposable	Polydactyly, Triphalangeal thumb	OMIM:190600
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits	Brachydactyly, Broad hallux, Overlapping toe, Short hallux, Triangular shaped phalanges of the ha...	OMIM:618167
Frontonasal Dysplasia 3	Microphthalmia, Facial cleft	OMIM:613456
Cerebrooculonasal Syndrome	Postaxial hand polydactyly, Anophthalmia, Facial cleft	ORPHA:66625
Microphthalmia, Isolated 4	Microphthalmia, Postaxial polydactyly	OMIM:613094
Camptosynpolydactyly, Complex	Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly	OMIM:607539
Adams-Oliver Syndrome 4	Atrial septal defect, Ventricular septal defect, Short toe, Absent middle phalanx of the 3rd toe,...	OMIM:615297
Acrofacial Dysostosis, Weyers Type	Postaxial hand polydactyly, Small hand, Facial cleft, Clinodactyly of the 5th finger, Overlapping...	ORPHA:952
Microphthalmia With Limb Anomalies	Toe syndactyly, Sandal gap, Single transverse palmar crease, Anophthalmia, Capitate-hamate fusion...	OMIM:206920
Microphthalmia, Isolated, With Cataract 1	Microphthalmia	OMIM:156850
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia	OMIM:616335
Fibular Hemimelia	Anophthalmia, Bowing of the legs, Tibial bowing, Foot oligodactyly, Short tibia, Arthralgia of th...	ORPHA:93323
Santos Syndrome	Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda...	OMIM:613005
Hypertelorism, Microtia, Facial Clefting Syndrome	2-3 toe syndactyly, Cleft palate, Abnormal heart morphology, Facial cleft, Small thenar eminence,...	OMIM:239800
Oculocerebrocutaneous Syndrome	Anophthalmia, Congenital hip dislocation, Orbital encephalocele, Cleft palate, Microphthalmia	OMIM:164180
Trisomy 13	Atrial septal defect, Anophthalmia, Ventricular septal defect, High, narrow palate, Postaxial han...	ORPHA:3378
Immunodeficiency 75 With Lymphoproliferation	Recurrent respiratory infections, Follicular hyperplasia, Bronchiectasis, Hepatosplenomegaly, Lym...	OMIM:619126
Polydactyly, Preaxial Iv	Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent...	OMIM:174700
Hydrolethalus	Anophthalmia, Micromelia, Polyhydramnios, Postaxial hand polydactyly, Submucous cleft hard palate...	ORPHA:2189
Frontofacionasal Dysplasia	Encephalocele, Microphthalmia, Facial cleft, Cleft palate	ORPHA:1791
Acrofacial Dysostosis, Catania Type	Finger syndactyly, Brachydactyly, Small hand, Facial cleft, Short palm, Clinodactyly of the 5th f...	ORPHA:1786
Microphthalmia, Isolated, With Coloboma 6	Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia	OMIM:613703
Anencephaly 2	Anophthalmia, Anencephaly, Median cleft palate	OMIM:619452
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia	OMIM:611038
Mycophenolate Mofetil Embryopathy	Ventricular septal defect, Hydrocephalus, Tracheoesophageal fistula, Facial cleft, Hydrops fetali...	ORPHA:268249
Trisomy 1Q	Anophthalmia, Toe syndactyly, Arachnodactyly, Camptodactyly of finger, Ventricular septal defect,...	ORPHA:261344
Mmep Syndrome	Microphthalmia, Split foot, Triphalangeal thumb	ORPHA:3434
Microphthalmia, Isolated, With Coloboma 4	Microphthalmia	OMIM:251505
Congenital Varicella Syndrome	Microphthalmia, Micromelia, Intrauterine growth retardation	ORPHA:291
Bardet-Biedl Syndrome 5	Syndactyly, Polydactyly, Brachydactyly	OMIM:615983
Eng-Strom Syndrome	Ventricular septal defect, Camptodactyly of finger, Abnormal cardiac septum morphology, Intrauter...	ORPHA:1937
Supernumerary Nostril	Facial cleft	ORPHA:141096
Jawad Syndrome	Hallux valgus, Single interphalangeal crease of fifth finger, Postaxial polydactyly, 4-5 toe synd...	OMIM:251255
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia	OMIM:251700
Meckel Syndrome, Type 4	Encephalocele, Atrial septal defect, Bowing of the long bones, Ventricular septal defect, Postaxi...	OMIM:611134
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Microphthalmia, Syndactyly, Clinodactyly, Brachydactyly	OMIM:610023
Premature Ovarian Failure 12	Microphthalmia	OMIM:616947
2Q24 Microdeletion Syndrome	Toe syndactyly, Camptodactyly of finger, Long fingers, Bullet-shaped distal phalanx of the hallux...	ORPHA:1617
Bartsocas-Papas Syndrome 1	Hypoplastic iliac wing, Patent foramen ovale, Short phalanx of finger, Syndactyly, Short metacarp...	OMIM:263650
Xk Aprosencephaly Syndrome	Abnormal morphology of the radius, Ventricular septal defect, Polyhydramnios, Atrial septal defec...	ORPHA:3469
Oculocerebrocutaneous Syndrome	Finger syndactyly, Congenital hip dislocation, Aplasia/Hypoplasia of the distal phalanges of the ...	ORPHA:1647
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Pallor	ORPHA:46532
Bardet-Biedl Syndrome 11	Polydactyly	OMIM:615988
Frontonasal Dysplasia 1	Postaxial hand polydactyly, Anterior basal encephalocele, Tetralogy of Fallot, Pectoral muscle hy...	OMIM:136760
Methylmalonic Acidemia With Homocystinuria, Type Cbld	Pallor	ORPHA:79283
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Camptodactyly of finger, Tapered finger, Facial cleft, Microphthalmia, Broad thumb, Bilateral sin...	ORPHA:1236
Microphthalmia, Isolated 8	Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia	OMIM:615113
Constricting Bands, Congenital	Encephalocele, Syndactyly, Facial cleft, Cleft palate, Hand polydactyly, Talipes equinovarus, Ect...	OMIM:217100
Peripheral Cone Dystrophy	Pallor	OMIM:609021
Bardet-Biedl Syndrome 14	Polydactyly	OMIM:615991
Nanophthalmos	Microphthalmia	ORPHA:35612
Microphthalmia With Brain And Digit Anomalies	Finger syndactyly, Anophthalmia, Proximal placement of thumb, Postaxial foot polydactyly, Microph...	ORPHA:139471
Cone-Rod Dystrophy 11	Pallor	OMIM:610381
Bardet-Biedl Syndrome 13	Polydactyly	OMIM:615990
Congenital Heart Block	Pericardial effusion, Hydrops fetalis, Peripheral edema, Pallor, Endocardial fibroelastosis, Intr...	ORPHA:60041
Meckel Syndrome, Type 2	Encephalocele, Bowing of the long bones, Intestinal malrotation, Postaxial hand polydactyly, Meni...	OMIM:603194
Microcephaly-Cardiomyopathy Syndrome	Ventricular septal defect, Sandal gap, High, narrow palate, Dilated cardiomyopathy, Clinodactyly ...	ORPHA:2515
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Camptodactyly of finger, Facial cleft, Cleft palate, Finger clinodactyly, Pectoral muscle hypopla...	ORPHA:306542
Catel-Manzke Syndrome	Atrial septal defect, Ventricular septal defect, Camptodactyly of finger, Metatarsus valgus, Radi...	ORPHA:1388
Joubert Syndrome 22	Postaxial hand polydactyly, 2-3 toe syndactyly, Postaxial foot polydactyly, Microphthalmia, Intra...	OMIM:615665
Feingold Syndrome Type 2	Toe syndactyly, Ventricular septal defect, Jejunal atresia, Short thumb, Short middle phalanx of ...	ORPHA:391646
Joubert Syndrome 18	Occipital encephalocele, Trident pelvis, Bowing of the long bones, Ventricular septal defect, Pos...	OMIM:614815
Fanconi Anemia, Complementation Group I	Atrial septal defect, Ventricular septal defect, Optic nerve hypoplasia, Absent thumb, Short thum...	OMIM:609053
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia	ORPHA:1574
Hartsfield Syndrome	Encephalocele, Split hand, Cleft palate, Lobar holoprosencephaly, Aplasia/Hypoplasia of the radiu...	ORPHA:2117
Feingold Syndrome 2	Ventricular septal defect, Short middle phalanx of the 2nd finger, Short thumb, 2-3 toe syndactyl...	OMIM:614326
Nanophthalmos 4	Microphthalmia	OMIM:615972
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microphthalmia	ORPHA:2432
Acromelic Frontonasal Dysostosis	Encephalocele, Syndactyly, Optic nerve hypoplasia, Midline facial cleft, Preaxial polydactyly, Pr...	OMIM:603671
Fanconi Anemia, Complementation Group J	Microphthalmia, Short thumb, Intrauterine growth retardation	OMIM:609054
Bardet-Biedl Syndrome 7	Clinodactyly, Polydactyly, 2-3 toe syndactyly, Postaxial polydactyly	OMIM:615984
Meckel Syndrome, Type 11	Occipital encephalocele, Polydactyly, Oligohydramnios	OMIM:615397
Biemond Syndrome Type 2	Microphthalmia, Preaxial polydactyly	ORPHA:141333
Cataract 11, Multiple Types	Microphthalmia	OMIM:610623
Microphthalmia, Isolated 2	Microphthalmia	OMIM:610093
Microphthalmia, Isolated, With Coloboma 7	Microphthalmia	OMIM:614497
Unilateral Ocular Duplication	Encephalocele, Polyhydramnios, Midline facial cleft, Cleft palate	ORPHA:3374
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Syndactyly, Ventricular septal defect, Hydrocephalus, Polydactyly, Microphthalmia	OMIM:602501
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Anophthalmia, Ventricular septal defect, Esophageal atresia, Hydrocephalus, Tracheoesophageal fis...	ORPHA:77298
Optic Atrophy 1	Pallor	OMIM:165500
Acute Peripheral Arterial Occlusion	Pallor	ORPHA:90064
Bardet-Biedl Syndrome 10	Polydactyly	OMIM:615987
Microphthalmia, Syndromic 8	Microphthalmia, Premature skin wrinkling, Split foot	OMIM:601349
Carpenter Syndrome	Syndactyly, Finger syndactyly, Toe syndactyly, Postaxial hand polydactyly, Genu valgum, Umbilical...	ORPHA:65759
Dermatitis, Atopic	Dry skin, Pallor, Facial erythema	OMIM:603165
Nemaline Myopathy 9	High palate, Polyhydramnios, Ventricular septal defect, Cleft palate	OMIM:615731
Microphthalmia, Isolated, With Coloboma 3	Microphthalmia	OMIM:610092
Microphthalmia With Limb Anomalies	Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of the 5th finge...	ORPHA:1106
Acropectoral Syndrome	Partial duplication of thumb phalanx, Preaxial polydactyly, Triphalangeal thumb	OMIM:605967
Vacterl With Hydrocephalus	Anophthalmia, Spina bifida, Polyhydramnios, Aqueductal stenosis, Esophageal atresia, Hydrocephalu...	ORPHA:3412
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Ventricular septal defect, Spina bifida, Anencephaly, Cleft palate, Aplasia/Hypoplasia of the rad...	ORPHA:2476
Polydactyly, Preaxial Iii	Preaxial polydactyly, Triphalangeal thumb	OMIM:174600
17Q12 Microduplication Syndrome	Finger syndactyly, Toe syndactyly, Polyhydramnios, Tracheoesophageal fistula, Cleft palate, Atria...	ORPHA:261272
Fraser Syndrome 1	Encephalocele, Aplasia/Hypoplasia of the thumb, Abnormal small intestine morphology, Anophthalmia...	OMIM:219000
Benign Paroxysmal Torticollis Of Infancy	Pallor	ORPHA:71518
Polydactyly, Postaxial, Type A8	Postaxial polydactyly, Genu valgum	OMIM:618123
Microgastria-Limb Reduction Defect Syndrome	Anophthalmia, Abnormal finger morphology, Atrial septal defect, Phocomelia, Microgastria, Aplasti...	ORPHA:2538
Microphthalmia, Syndromic 9	Anophthalmia, Ventricular septal defect, Bilateral microphthalmos, Hypoplastic left atrium, Neona...	OMIM:601186
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Anophthalmia	ORPHA:411986
Fanconi Anemia, Complementation Group G	Abnormal thumb morphology, Microphthalmia	OMIM:614082
Orofaciodigital Syndrome Xviii	Sandal gap, Single transverse palmar crease, Postaxial polydactyly, Preaxial polydactyly, Genu va...	OMIM:617927
Hb Bart'S Hydrops Fetalis	Hydrops fetalis, Pallor, Polyhydramnios, Oligohydramnios	ORPHA:163596
Joubert Syndrome 15	Preaxial polydactyly, Exencephaly	OMIM:614464
3Mc Syndrome 3	Radioulnar synostosis, Clinodactyly, Preaxial polydactyly, Facial cleft	OMIM:248340
Meckel Syndrome, Type 5	Occipital encephalocele, Bowing of the long bones, Postaxial hand polydactyly, Anencephaly, Posta...	OMIM:611561
Congenital Toxoplasmosis	Cardiomegaly, Hydrocephalus, Microphthalmia, Ascites, Intrauterine growth retardation	ORPHA:858
Retinitis Pigmentosa 51	Polydactyly, Pallor	OMIM:613464
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Rhizomelia, Metaphyseal cupping of proximal phalanges, Metaphyseal cupping of metacarpals, Intrau...	OMIM:300863
Meckel Syndrome	Encephalocele, Bowing of the long bones, Anophthalmia, Aplasia/Hypoplasia of the tongue, Situs in...	ORPHA:564
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Microphthalmia, Polyhydramnios, Camptodactyly of finger, Symphalangism affecting the phalanges of...	ORPHA:2547
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Microphthalmia, Talipes equinovarus, Intrauterine growth retardation	OMIM:616171
Synpolydactyly 2	Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar...	OMIM:608180
Breath-Holding Spells	Pallor	OMIM:607578
Fetal Minoxidil Syndrome	Clinodactyly of the 5th finger, Umbilical hernia, Ventricular septal defect	ORPHA:1918
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Pallor	ORPHA:2786
Bresek Syndrome	Aganglionic megacolon, Optic nerve hypoplasia, Postaxial hand polydactyly, Hydrocephalus, Cleft p...	ORPHA:85284
Sandestig-Stefanova Syndrome	Rocker bottom foot, Muscular ventricular septal defect, Perimembranous ventricular septal defect,...	OMIM:618804
Myopathic Ehlers-Danlos Syndrome	Shoulder flexion contracture, Tapered finger, Elbow flexion contracture, Congenital bilateral hip...	ORPHA:536516
Pierpont Syndrome	Short toe, Deep palmar crease, Short finger, Prominent fingertip pads, Microphthalmia, Excessive ...	ORPHA:487825
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Overlapping fingers, Overlapping toe, Hypoplastic right heart, Postaxial polydactyly, Ventricular...	OMIM:618142
Curry-Jones Syndrome	Finger syndactyly, Toe syndactyly, Abnormality of thumb phalanx, Preaxial hand polydactyly, Foot ...	ORPHA:1553
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Atrial septal defect, Overlapping toe, Ventricular septal defect, Patent foramen ovale, High, nar...	OMIM:618494
Temtamy Syndrome	Short toe, Genu varum, Clinodactyly of the 5th finger, Microphthalmia, Brachydactyly	ORPHA:1777
Diethylstilbestrol Syndrome	Hypospadias, Vaginal neoplasm, Abnormal reproductive system morphology, Cryptorchidism, Testicula...	ORPHA:1916
Isolated Arrhinia	Microphthalmia, Facial cleft	ORPHA:1134
Cofs Syndrome	Microphthalmia, Camptodactyly of finger, Intrauterine growth retardation	ORPHA:1466
Leber Congenital Amaurosis 14	Pallor	OMIM:613341
Treacher-Collins Syndrome	Encephalocele, Branchial fistula, Tracheoesophageal fistula, Cleft palate, Facial cleft, Glossopt...	ORPHA:861
Bardet-Biedl Syndrome 19	Ventricular septal defect, Mesoaxial hand polydactyly, Postaxial polydactyly, Partial atrioventri...	OMIM:615996
Frontonasal Dysplasia 2	Encephalocele, Tessier number 13 facial cleft, Microphthalmia, Intrauterine growth retardation, O...	OMIM:613451
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Bowing of the long bones, Rhizomelia, Ventricular septal defect, Proximal placement of thumb, Abn...	ORPHA:93267
Aminopterin/Methotrexate Embryofetopathy	Encephalocele, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Ventricular septal defect, Mic...	ORPHA:1908
Primary Lateral Sclerosis, Juvenile	Abnormal upper motor neuron morphology, Pallor	OMIM:606353
Microphthalmia, Isolated 5	Microphthalmia, Cystoid macular edema	OMIM:611040
Foveal Hypoplasia 2	Hypoplasia of the fovea, Microphthalmia	OMIM:609218
Moebius Syndrome	Syndactyly, Brachydactyly, Microphthalmia, Split hand, Abnormal pelvic girdle bone morphology, Ta...	OMIM:157900
Cat-Eye Syndrome	Microphthalmia, Hip dysplasia, Intrauterine growth retardation	ORPHA:195
Microcephaly-Micromelia Syndrome	Micromelia, Absent thumb, Absent radius, Aqueductal stenosis, Short tibia, Humeroradial synostosi...	OMIM:251230
Microcephaly-Microcornea Syndrome, Seemanova Type	Microphthalmia	ORPHA:2528
Thiamine-Responsive Megaloblastic Anemia Syndrome	Atrial septal defect, Ventricular septal defect, Pallor	ORPHA:49827
Pierpont Syndrome	Short toe, Broad palm, Short foot, Deep palmar crease, Short finger, Short palm, Prominent finger...	OMIM:602342
3P25.3 Microdeletion Syndrome	Atrial septal defect, Broad hallux, Overlapping toe, Proximal placement of thumb, Tapered finger,...	ORPHA:435638
Microphthalmia, Isolated 6	Microphthalmia	OMIM:613517
Septooptic Dysplasia	Optic disc hypoplasia, Polydactyly, Optic nerve hypoplasia, Short finger	OMIM:182230
Optic Atrophy 7 With Or Without Auditory Neuropathy	Hypertrophic cardiomyopathy, Pallor	OMIM:612989
Bardet-Biedl Syndrome 4	Syndactyly, Polydactyly, Brachydactyly	OMIM:615982
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Short palm, Rhizomelia, Metaphyseal chondrodysplasia, Abnormality of the calcaneus, Metaphyseal c...	ORPHA:163966
Walker-Warburg Syndrome	Anophthalmia, Hydrocephalus, Submucous cleft hard palate, Cleft palate, Metatarsus valgus, Microp...	ORPHA:899
Holoprosencephaly	Encephalocele, Anophthalmia, Ventricular septal defect, Abnormal pulmonary valve morphology, Medi...	ORPHA:2162
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Generalized lymphadenopathy, Aplasia of the thymus, Pneumonia, Genital ulcers, Splenomegaly, Recu...	OMIM:602450
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Neonatal death, Microphthalmia, Ventricular septal defect	OMIM:613730
Microphthalmia, Syndromic 2	Anophthalmia, 2-3 toe cutaneous syndactyly, Atrial septal defect, Contracture of the proximal int...	OMIM:300166
Cayler Cardiofacial Syndrome	Tetralogy of Fallot, Ventricular septal defect	OMIM:125520
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Hypertrophic cardiomyopathy, Pallor	OMIM:613561
Craniotelencephalic Dysplasia	Microphthalmia, Septo-optic dysplasia, Frontal encephalocele, Hydrocephalus	ORPHA:1528
Mesoaxial Hexadactyly And Cardiac Malformation	Ventricular septal defect, Hand polydactyly, Pulmonic stenosis, Atrial septal defect, Abnormal 3r...	OMIM:249670
Oculofaciocardiodental Syndrome	Delayed eruption of teeth, Intestinal malrotation, Short thumb, Submucous cleft hard palate, Broa...	ORPHA:2712
Xeroderma Pigmentosum, Complementation Group G	Microphthalmia	OMIM:278780
Congenital Rubella Syndrome	Atrial septal defect, Ventricular septal defect, Aplasia/Hypoplasia of the iris, Microphthalmia, ...	ORPHA:290
Tarp Syndrome	Meckel diverticulum, Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, ...	OMIM:311900
Acute Myelomonocytic Leukemia	Pallor	ORPHA:517
Hemoglobin D Disease	Pallor	ORPHA:90039
Al-Gazali-Bakalinova Syndrome	Epiphyseal dysplasia, Tapered finger, Lymphedema, Flattened epiphysis, Genu valgum, Polydactyly, ...	OMIM:607131
Neurooculocardiogenitourinary Syndrome	Redundant neck skin, Ventricular septal defect, Cardiomegaly, Patent foramen ovale, Atrial septal...	OMIM:618652
Craniotelencephalic Dysplasia	Microphthalmia, Frontal encephalocele, Optic nerve hypoplasia	OMIM:218670
Cerebrooculonasal Syndrome	Encephalocele, Anophthalmia, Optic nerve hypoplasia, Postaxial polydactyly, Postaxial hand polyda...	OMIM:605627
Heart Defects-Limb Shortening Syndrome	Atrial septal defect, Ventricular septal defect, Mesomelic/rhizomelic limb shortening, Abnormal t...	ORPHA:1354
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome	Occipital encephalocele, Postaxial polydactyly	OMIM:213010
Kapur-Toriello Syndrome	Atrial septal defect, Overlapping fingers, Ventricular septal defect, Single transverse palmar cr...	OMIM:244300
Pelvis-Shoulder Dysplasia	Congenital hip dislocation, Hypoplastic scapulae, Hypoplastic ilia, Hypoplastic acetabulae, Short...	OMIM:169550
Familial Focal Epilepsy With Variable Foci	Pallor	ORPHA:98820
Cranioacrofacial Syndrome	Abnormal hand morphology, Dupuytren contracture, Ventricular septal defect, Pulmonic stenosis	OMIM:122850
Anemia, Congenital Dyserythropoietic, Type Ib	Syndactyly, Pallor	OMIM:615631
Dihydropyrimidine Dehydrogenase Deficiency	Microphthalmia	OMIM:274270
Duane-Radial Ray Syndrome	Optic disc hypoplasia, Preaxial polydactyly, Shoulder dislocation, Triphalangeal thumb, Atrial se...	OMIM:607323
Sonoda Syndrome	High axial triradius, Ventricular septal defect	OMIM:270460
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Microphthalmia, Occipital encephalocele, Hydrocephalus	ORPHA:324416
Orofaciodigital Syndrome Xvii	Short middle phalanx of the 2nd finger, High, narrow palate, Partial duplication of thumb phalanx...	OMIM:617926
Adams-Oliver Syndrome	Encephalocele, Finger syndactyly, Brachydactyly, Abnormal pulmonary valve morphology, Absent toe,...	ORPHA:974
Carpenter Syndrome 1	Duplication of the proximal phalanx of the hallux, High palate, Clinodactyly of the 5th finger, A...	OMIM:201000
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Sandal gap, Lens coloboma, 2-3 toe syndactyly, Small thenar eminence, Joint contracture of the 4t...	OMIM:618914
X-Linked Sideroblastic Anemia	Pallor	ORPHA:75563
Linear Skin Defects With Multiple Congenital Anomalies 2	Ventricular hypertrophy, Sandal gap, Atrial septal defect, Microphthalmia, Tetralogy of Fallot	OMIM:300887
Cockayne Syndrome Type 2	Intrauterine growth retardation, Anophthalmia, Delayed eruption of primary teeth	ORPHA:90322
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Microphthalmia	OMIM:120433
14Q11.2 Microdeletion Syndrome	High palate, Toe syndactyly, Ventricular septal defect, Toe clinodactyly	ORPHA:261120
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Anophthalmia, Camptodactyly of finger, High, narrow palate, Ulnar deviation of finger, Talipes eq...	ORPHA:1101
Pseudotrisomy 13 Syndrome	Encephalocele, Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, P...	OMIM:264480
Peroxisome Biogenesis Disorder 8A (Zellweger)	Epiphyseal stippling, Glossoptosis, Ventricular septal defect	OMIM:614876
Mosaic Trisomy 1	Long toe, Broad toe, Toe syndactyly, Arachnodactyly, Single transverse palmar crease, Rocker bott...	ORPHA:1692
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Microphthalmia	OMIM:614830
Brachydactyly, Type B1	Type B brachydactyly, Syndactyly, Ventricular septal defect, Aplasia/Hypoplasia of the distal pha...	OMIM:113000
Matthew-Wood Syndrome	Microphthalmia, Anophthalmia, Intrauterine growth retardation	ORPHA:2470
Pelvis-Shoulder Dysplasia	Syndactyly, Camptodactyly of finger, Spina bifida, Aplasia/Hypoplasia of the fibula, Mesomelic/rh...	ORPHA:2839
Polysyndactyly With Cardiac Malformation	Syndactyly, Ventricular septal defect, Polyhydramnios, Preaxial hand polydactyly, Duplication of ...	OMIM:263630
Pelger-Huet Anomaly	Ventricular septal defect, Upper limb undergrowth, Polydactyly, Short 3rd metacarpal, Umbilical h...	OMIM:169400
Holoprosencephaly 1	Alobar holoprosencephaly, Facial cleft, Single ventricle, Microphthalmia, Ethmocephaly, Median cl...	OMIM:236100
Cerebrooculofacioskeletal Syndrome 4	Rocker bottom foot, Camptodactyly of finger, Adducted thumb, Flared metaphysis, Hip dislocation, ...	OMIM:610758
Joubert Syndrome 40	Optic nerve hypoplasia, Postaxial polydactyly	OMIM:619582
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Anophthalmia, Rhizomelia, 2-3 toe syndactyly, Microphthalmia, 3-4 finger syndactyly	OMIM:615877
Pallister-Hall Syndrome	Anteriorly placed anus, Holoprosencephaly, Neonatal death, Distal shortening of limbs, Syndactyly...	OMIM:146510
Bardet-Biedl Syndrome 9	Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Polyda...	OMIM:615986
Intellectual Developmental Disorder, Autosomal Recessive 79	Ventricular septal defect, Short hallux, Long fingers, Clinodactyly of the 5th finger, Slender fi...	OMIM:620393
Nevus Comedonicus Syndrome	Finger syndactyly, Toe syndactyly, Spina bifida, Preaxial polydactyly, Spina bifida occulta	ORPHA:64754
Cousin Syndrome	Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of the 5th finger, Wrist flexio...	OMIM:260660
Focal Dermal Hypoplasia	Congenital hip dislocation, Anophthalmia, Osteopathia striata, Short metatarsal, Anteriorly place...	OMIM:305600
Bardet-Biedl Syndrome 16	Polydactyly	OMIM:615993
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Ventricular septal defect, Cleft palate, Hydranencephaly, Truncus arteriosus, Short distal phalan...	OMIM:601355
Chromosome 13Q33-Q34 Deletion Syndrome	Encephalocele, Delayed eruption of teeth, Overlapping toe, Single transverse palmar crease, Taper...	OMIM:619148
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Microphthalmia, Camptodactyly of finger, Intrauterine growth retardation	ORPHA:48431
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Macroglossia, Microphthalmia, Hydrocephalus, Cardiomyopathy	OMIM:613155
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Ventricular septal defect, Intestinal malrotation, Postaxial polydactyly, 2-3 toe syndactyly, Cle...	ORPHA:404440
Congenital Sialidosis Type 2	Hypoplasia of the fovea, Edema, Protruding tongue, Hydrocephalus, Abnormal heart morphology, Poly...	ORPHA:93400
Meckel Syndrome, Type 10	Occipital encephalocele, Ulnar deviation of the hand, Postaxial polydactyly, Postaxial hand polyd...	OMIM:614175
Cataract 9, Multiple Types	Microphthalmia	OMIM:604219
Developmental Delay With Variable Neurologic And Brain Abnormalities	Microphthalmia, Cubitus valgus, Down-sloping shoulders, Camptodactyly	OMIM:619694
Congenital Primary Aphakia	Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia	ORPHA:83461
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Short metatarsal, Cone-shaped...	OMIM:617102
Chromosome 3Pter-P25 Deletion Syndrome	Overlapping toe, Postaxial polydactyly, Tapered finger, Macular hypoplasia, High palate, Intraute...	OMIM:613792
Intellectual Developmental Disorder, Autosomal Recessive 73	Clinodactyly of the 5th finger, Ventricular septal defect, Single transverse palmar crease	OMIM:619717
Solitary Median Maxillary Central Incisor	Microphthalmia, Anophthalmia	OMIM:147250
Laurin-Sandrow Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Absent rad...	ORPHA:2378
Lissencephaly 8	Microphthalmia, Occipital encephalocele, Talipes equinovarus	OMIM:617255
Neu-Laxova Syndrome 1	Micromelia, Polyhydramnios, Calcaneovalgus deformity, Neonatal death, Patent foramen ovale, Finge...	OMIM:256520
Solitary Bone Cyst	Abnormal tibia morphology, Abnormal spinal cord morphology, Abnormal pubic bone morphology, Proxi...	ORPHA:83468
Ritscher-Schinzel Syndrome 1	Syndactyly, Ventricular septal defect, Hydrocephalus, Double outlet right ventricle, Cleft palate...	OMIM:220210
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Pallor	ORPHA:276608
Ventricular Septal Defect 1	Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect...	OMIM:614429
Meckel Syndrome 14	Occipital encephalocele, Bowing of the long bones, Syndactyly, Postaxial polydactyly, Postaxial h...	OMIM:619879
Indomethacin Embryofetopathy	Ventricular septal defect, Hydrops fetalis, Cardiomyopathy, Atrial septal defect, Oligohydramnios	ORPHA:1909
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Short long bone, Polyhydramnios, Postaxial polydactyly, Brachydactyly	OMIM:615633
Joubert Syndrome 14	Encephalocele, Ventricular septal defect, Postaxial polydactyly, Hydrocephalus, Meningocele, Clef...	OMIM:614424
Trisomy 18	Atrial septal defect, Ventricular septal defect, Camptodactyly of finger, Spina bifida, Esophagea...	ORPHA:3380
14Q22Q23 Microdeletion Syndrome	Finger syndactyly, Optic nerve aplasia, Toe syndactyly, Anophthalmia, Short foot, Short palm, Cli...	ORPHA:264200
Microphthalmia, Syndromic 5	Microphthalmia, Anophthalmia, Optic nerve hypoplasia	OMIM:610125
Cyclic Vomiting Syndrome	Cardiomyopathy, Pallor	OMIM:500007
Orofaciodigital Syndrome Viii	Syndactyly, Cleft palate, High palate, Polydactyly, Short tibia	OMIM:300484
Short-Rib Thoracic Dysplasia 12	Edema, Bowing of the legs, Polyhydramnios, Lobulated tongue, Holoprosencephaly, Short palm, Neona...	OMIM:269860
1Q21.1 Microdeletion Syndrome	Broad hallux phalanx, Toe syndactyly, Hydrocephalus, Short foot, Hand polydactyly, Abnormal cardi...	ORPHA:250989
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
American Trypanosomiasis	Aganglionic megacolon, Edema, Periorbital edema, Myocarditis, Cardiomyopathy, Pallor	ORPHA:3386
Ring Chromosome 10 Syndrome	Microphthalmia, Intrauterine growth retardation, Sandal gap, Tapered finger	ORPHA:1438
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia	OMIM:615771
Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	ORPHA:2717
Braddock-Carey Syndrome 2	Microphthalmia, Clinodactyly	OMIM:619981
Orofaciodigital Syndrome Type 10	Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Short toe, Preaxia...	ORPHA:2756
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Microphthalmia	OMIM:267760
Silver-Russell Syndrome Due To A Point Mutation	Syndactyly, Cleft palate, Short 5th finger, Polydactyly, Small placenta, Ectrodactyly, Clinodacty...	ORPHA:397590
Microphthalmia, Syndromic 13	Microphthalmia	OMIM:300915
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Encephalocele, Natal tooth, Rhizomelia, Postaxial polydactyly, Hamartoma of tongue, Squared iliac...	OMIM:616300
Congenital Disorder Of Glycosylation, Type Iil	Peau d'orange, Ventricular septal defect, Postaxial polydactyly, Hydrocephalus, Esophageal varix,...	OMIM:614576
Bartsocas-Papas Syndrome 2	Microphthalmia, 2-5 finger cutaneous syndactyly, Absent distal phalanges, Small hand	OMIM:619339
Cerebrooculofacioskeletal Syndrome 1	Rocker bottom foot, Coxa valga, Elbow flexion contracture, Dehydration, Second metatarsal posteri...	OMIM:214150
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Bowin...	ORPHA:85167
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Syndactyly, Brachydactyly, Hypoplastic scapulae, Bowing of the long bones, Micromelia, Postaxial ...	OMIM:614091
Bardet-Biedl Syndrome 22	Postaxial foot polydactyly, Polydactyly	OMIM:617119
Isolated Klippel-Feil Syndrome	Ventricular septal defect, Spina bifida, Cleft palate, Abnormal shoulder morphology, Ectopic anus...	ORPHA:2345
Spontaneous Periodic Hypothermia	Pallor	ORPHA:29822
Hyperinsulinism Due To Ucp2 Deficiency	Hypertrophic cardiomyopathy, Pallor	ORPHA:276556
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Anophthalmia, Edema, Lymphedema, Skin ulcer, Scaling skin, Chylothorax, Microphthalmia, Pleural e...	ORPHA:2526
Warburg Micro Syndrome 1	Microphthalmia, Overlapping toe	OMIM:600118
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Syndactyly, Ventricular septal defect, Abnormality of the hand, Bilateral microphthalmos, Abnorma...	ORPHA:369891
Orofaciodigital Syndrome Vi	Brachydactyly, Toe syndactyly, Short femur, Mesoaxial hand polydactyly, Postaxial polydactyly, Ha...	OMIM:277170
Kcnq2-Related Epileptic Encephalopathy	Pallor, Cerebral edema, Facial erythema	ORPHA:439218
Lambert Syndrome	Intrauterine growth retardation, Branchial anomaly, Ventricular septal defect	ORPHA:1296
Marden-Walker Syndrome	Arachnodactyly, Dextrocardia, High, narrow palate, Pyloric stenosis, Cleft palate, Radioulnar syn...	OMIM:248700
Verheij Syndrome	Branchial cyst, Truncus arteriosus, Optic nerve hypoplasia, Ventricular septal defect, Hip disloc...	OMIM:615583
Osteoporosis-Pseudoglioma Syndrome	Crumpled long bones, Metaphyseal widening, Abnormal femoral neck/head morphology, Microphthalmia,...	ORPHA:2788
Suleiman-El-Hattab Syndrome	Ventricular septal defect, Single transverse palmar crease, Polydactyly, High palate, Atrial sept...	OMIM:618950
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Intrauterine growth retardation, Polydactyly, Hypoplastic ischia	OMIM:616910
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia	Ventricular septal defect, Aplasia/Hypoplasia of the distal phalanges of the toes, Aplasia/Hypopl...	ORPHA:94066
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Short femur, Fractured radius, Ventricular septal defect, Polyhydramnios, Decreased fibular diame...	OMIM:616897
Curry-Jones Syndrome	Anal stenosis, Intestinal pseudo-obstruction, Duplication of thumb phalanx, Intestinal malrotatio...	OMIM:601707
Roifman Syndrome	Hip contracture, Short metacarpal, Noncompaction cardiomyopathy, Ventricular septal defect, Singl...	OMIM:616651
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Coxa valga, Abnormality of the elbow, Flattened epiphysis, Flat acetabular roof, Hemiatrophy of u...	ORPHA:163649
Holt-Oram Syndrome	Finger syndactyly, Atrial septal defect, Ventricular septal defect, Down-sloping shoulders, Absen...	ORPHA:392
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Cutaneous finger syndactyly, Foot o...	ORPHA:93322
Tyshchenko Syndrome	Ventricular septal defect, Polyhydramnios, High, narrow palate, Narrow palate, Cleft palate, High...	OMIM:615102
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hypertrophic cardiomyopathy, Pallor	ORPHA:276575
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Postaxial hand polydactyly, Abnormal cardiac septum morphology, Ventricular septal defect, Hydroc...	ORPHA:83473
Rheumatic Fever	Pericarditis, Abnormal heart valve morphology, Myocarditis, Erythema, Endocarditis, Abnormal aort...	ORPHA:3099
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy	Ventricular septal defect, Overlapping toe, Avascular necrosis of the capital femoral epiphysis, ...	OMIM:614262
Cerebrooculofacioskeletal Syndrome 2	Microphthalmia, Camptodactyly of finger, Rocker bottom foot, Intrauterine growth retardation	OMIM:610756
Gracile Bone Dysplasia	Flared metaphysis, Slender long bone, Aniridia, Microphthalmia, Ascites, Brachydactyly	OMIM:602361
Desbuquois Syndrome	Ventricular septal defect, Camptodactyly of finger, Coxa valga, Elbow dislocation, Small hand, Co...	ORPHA:1425
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect	Aganglionic megacolon, Preaxial foot polydactyly, Polysyndactyly of hallux, Ventricular septal de...	OMIM:235750
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Hypertrophic cardiomyopathy, Pallor	ORPHA:276580
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypoplastic pubic ramus, Proximal placement of thumb, Short metatarsal, Hand monodactyly, Patella...	OMIM:609945
Coenzyme Q10 Deficiency, Primary, 7	Intrauterine growth retardation, Hypertrophic cardiomyopathy, Hypoplastic left heart, Ventricular...	OMIM:616276
Cohen Syndrome	Finger syndactyly, Arachnodactyly, Sandal gap, Ventricular septal defect, Tapered finger, Cubitus...	ORPHA:193
Spinal Muscular Atrophy, Type I	Atrial septal defect, Ventricular septal defect	OMIM:253300
Meckel Syndrome, Type 3	Occipital encephalocele, Postaxial hand polydactyly, Hydrocephalus, Cleft palate, Postaxial foot ...	OMIM:607361
Charge Syndrome	Delayed eruption of teeth, Anophthalmia, Polyhydramnios, Abnormal soft palate morphology, Aqueduc...	ORPHA:138
Focal Dermal Hypoplasia	Finger syndactyly, Toe syndactyly, Ventricular septal defect, Abnormal palmar dermatoglyphics, Sp...	ORPHA:2092
Diabetic Embryopathy	Ventricular septal defect, Hydrocephalus, Tetralogy of Fallot, Cleft palate, Spinal dysraphism, T...	ORPHA:1926
Filippi Syndrome	Ventricular septal defect, Single transverse palmar crease, 2-4 toe syndactyly, Cutaneous syndact...	OMIM:272440
Orofaciodigital Syndrome Iv	Toe syndactyly, Postaxial polydactyly, Hamartoma of tongue, Cleft palate, Lobulated tongue, Hand ...	OMIM:258860
Chromosome 17Q12 Duplication Syndrome	Cleft soft palate, Esophageal atresia, Atrial septal defect, Microphthalmia, Broad thumb, Brachyd...	OMIM:614526
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome	Ventricular septal defect, Bilateral single transverse palmar creases, High, narrow palate, Cleft...	ORPHA:2516
Adams-Oliver Syndrome 2	Single transverse palmar crease, Absent distal phalanges, Short middle phalanx of finger, Microph...	OMIM:614219
2Q31.1 Microdeletion Syndrome	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Sandal gap, Abnormal morphology of ulna,...	ORPHA:251014
Charge Syndrome	Anophthalmia, Abnormal palmar dermatoglyphics, Polyhydramnios, Secundum atrial septal defect, Han...	OMIM:214800
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Clinodactyly of the 5th finger, Delayed eruption of permanent teeth, Ventricular septal defect, R...	OMIM:618506
Diamond-Blackfan Anemia 1	Ventricular septal defect, Tricuspid stenosis, Absent thumb, Hypoplastic ilia, Short thumb, Parti...	OMIM:105650
Cat Eye Syndrome	Meckel diverticulum, Anal stenosis, Anal atresia, Ventricular septal defect, Intestinal malrotati...	OMIM:115470
Phaver Syndrome	Broad hallux phalanx, Ventricular septal defect, Camptodactyly of finger, Short thumb, Myelomenin...	ORPHA:2876
Orofaciodigital Syndrome Xi	Cleft palate, Postaxial polydactyly	OMIM:612913
16P13.11 Microduplication Syndrome	Ventricular septal defect, Arachnodactyly, Hand polydactyly, Transposition of the great arteries,...	ORPHA:261243
Thrombocytopenia-Absent Radius Syndrome	Edema of the dorsum of feet, Edema of the dorsum of hands, Femoral bowing, Abnormal shoulder morp...	OMIM:274000
Dravet Syndrome	Pallor, Tibial torsion	ORPHA:33069
Nephronophthisis 15	Polydactyly	OMIM:614845
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15	Clinodactyly of the 5th finger, High palate, Polydactyly, Upper limb asymmetry	ORPHA:231140
Fallot Complex With Severe Mental And Growth Retardation	Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis	OMIM:601127
Lethal Congenital Contracture Syndrome 10	Overlapping fingers, Overriding aorta, Ventricular septal defect, Cardiomegaly, Hydrops fetalis, ...	OMIM:617022
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Single transverse palmar crease, High palate, Microphthalmia, Hypertrophic cardiomyopathy, Oligoh...	OMIM:619053
Deafness-Lymphedema-Leukemia Syndrome	Pallor, Lymphedema	ORPHA:3226
Noonan Syndrome 12	Ventricular septal defect, Polyhydramnios, Proximal placement of thumb, Anteriorly placed anus, T...	OMIM:618624
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Ventricular septal defect, Protruding tongue, Hydrocephalus, Cleft palate, Drumstick terminal pha...	OMIM:612938
Frontorhiny	Encephalocele, Camptodactyly of finger, Cleft palate, Finger clinodactyly, Basal encephalocele, C...	ORPHA:391474
Monosomy 18P	Lymphedema, Cleft palate, Holoprosencephaly, Microphthalmia, Brachydactyly	ORPHA:1598
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication	OMIM:188740
Galloway-Mowat Syndrome 7	Hallux valgus, Arachnodactyly, Single transverse palmar crease, Ventricular septal defect, Edema,...	OMIM:618348
Hydrolethalus Syndrome 1	Ventricular septal defect, Polyhydramnios, Preaxial hand polydactyly, Postaxial hand polydactyly,...	OMIM:236680
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Short 2nd finger, Sandal gap, Broad hallux, Ventricular septal defect, Secundum atrial septal def...	OMIM:600987
Bardet-Biedl Syndrome 17	Mesoaxial polydactyly, Short fourth metatarsal, Mesoaxial hand polydactyly, Dextrocardia, Situs i...	OMIM:615994
3Q29 Microduplication Syndrome	Toe syndactyly, Sandal gap, Ventricular septal defect, Cleft palate, Ectopic anus, Aniridia, High...	ORPHA:251038
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy	Atrial septal defect, Ventricular septal defect	OMIM:614249
Manitoba Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	OMIM:248450
Heart And Brain Malformation Syndrome	Ventricular septal defect, Camptodactyly of finger, Polyhydramnios, High, narrow palate, Hand cle...	OMIM:616920
Char Syndrome	Toe syndactyly, Mesoaxial foot polydactyly, Mesoaxial hand polydactyly, Ventricular septal defect...	ORPHA:46627
Fetal Trimethadione Syndrome	Ventricular septal defect, High palate, Transposition of the great arteries, Atrial septal defect...	ORPHA:1913
Pyruvate Kinase Deficiency Of Red Cells	Intrauterine growth retardation, Nonimmune hydrops fetalis, Pallor	OMIM:266200
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Ventricular septal defect, Postaxial polydactyly, Abnormally large globe, Hydrocephalus, Atrial s...	OMIM:603387
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Atrial septal defect, Arachnodactyly, Bicuspid aortic valve, Postaxial polydactyly, Tapered finge...	OMIM:619721
Insulin-Like Growth Factor I, Resistance To	Rieger anomaly, Sandal gap, Ventricular septal defect, Small hand, Short foot, High palate, Short...	OMIM:270450
Ivic Syndrome	Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Limited elbow movement, Ab...	OMIM:147750
Hyperinsulinism Due To Hnf1A Deficiency	Pallor	ORPHA:324575
Otopalatodigital Syndrome Type 2	Encephalocele, Bowing of the long bones, Abnormal heart valve morphology, Tarsal synostosis, Shor...	ORPHA:90652
Roberts Syndrome	Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Polyhydramnios, High palate, Clinod...	ORPHA:3103
Periventricular Nodular Heterotopia 7	Contracture of the proximal interphalangeal joint of the 2nd finger, Ventricular septal defect, 1...	OMIM:617201
Subaortic Stenosis-Short Stature Syndrome	Membranous subvalvular aortic stenosis, Subvalvular aortic stenosis, Microphthalmia, Synostosis o...	ORPHA:3191
Evans Syndrome	Pallor, Petechiae	ORPHA:1959
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Lymphedema, Periorbital edema, Rectal prolapse, Cutaneous finger syndactyly, Protein-losing enter...	OMIM:235510
Seckel Syndrome 2	Clinodactyly of the 5th finger, Microphthalmia	OMIM:606744
8P23.1 Duplication Syndrome	Toe syndactyly, Ventricular septal defect, Tetralogy of Fallot, Pulmonic stenosis	ORPHA:251076
Senior-Loken Syndrome 8	Polydactyly, Pallor	OMIM:616307
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Overlapping fingers, Ventricular septal defect, Rocker bottom foot, Optic nerve hypoplasia, Coxa ...	OMIM:301056
Joubert Syndrome 16	Encephalocele, Polydactyly	OMIM:614465
Chromosome 1Q41-Q42 Deletion Syndrome	Ventricular septal defect, Sandal gap, 3-4 finger cutaneous syndactyly, Cleft palate, High palate...	OMIM:612530
Lambotte Syndrome	Intrauterine growth retardation, Ventricular septal defect, Preaxial foot polydactyly, Semilobar ...	OMIM:245552
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Scapular winging, Ventricular septal defect, Single transverse palmar crease, Micromelia, Monkey ...	OMIM:618870
Rere-Related Neurodevelopmental Syndrome	Ventricular septal defect, Abnormal heart morphology, Hip dysplasia, Microphthalmia, Intrauterine...	ORPHA:494344
Congenital Heart Defects, Multiple Types, 4	Ventricular septal defect, Hypoplastic left heart, Aortic valve stenosis, Atrioventricular canal ...	OMIM:615779
Holt-Oram Syndrome	Syndactyly, Hypoplasia of the ulna, Short humerus, Ventricular septal defect, Aplasia of the ulna...	OMIM:142900
Histiocytoid Cardiomyopathy	Ventricular septal defect, Cardiomegaly, Hydrocephalus, Cleft palate, Pallor, Microphthalmia, Con...	ORPHA:137675
3C Syndrome	Finger syndactyly, Ventricular septal defect, Abnormal mitral valve morphology, Intestinal malrot...	ORPHA:7
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome	Hyperextensibility of the finger joints, Toe syndactyly, Arachnodactyly, Overlapping toe, Ventric...	ORPHA:505237
Martsolf Syndrome 1	Short metacarpal, Metatarsus adductus, Slender ulna, Short toe, Osteopathia striata, Broad finger...	OMIM:212720
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Micromelia, Preaxial hand polydactyly, Abnormal pelvis bone ossification, Postaxial hand polydact...	ORPHA:93271
Chondrodysplasia Punctata 2, X-Linked Dominant	Rhizomelia, Postaxial polydactyly, Edema, Polyhydramnios, Epiphyseal stippling, Abnormal pelvic g...	OMIM:302960
Acro-Renal-Ocular Syndrome	Hypoplasia of the ulna, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Abnormal morphol...	ORPHA:959
Fanconi Anemia, Complementation Group R	Tethered cord, Radial dysplasia, Absent thumb, Hydrocephalus, Microphthalmia, Anal atresia	OMIM:617244
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Hypoplasia of the ulna, Finger syndactyly, Ventricular septal defect, Polyhydramnios, Aplasia/Hyp...	ORPHA:2256
Acrocardiofacial Syndrome	Hallux valgus, Finger syndactyly, Toe syndactyly, Mitral stenosis, Camptodactyly of finger, Ventr...	ORPHA:2008
Yunis-Varon Syndrome	Aplasia of the distal phalanges of the hand, Redundant neck skin, Single transverse palmar crease...	ORPHA:3472
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Encephalocele, Intrauterine growth retardation, Microphthalmia, Oligohydramnios	ORPHA:228390
Beta-Thalassemia	Hypertrophic cardiomyopathy, Pallor, Skin ulcer	ORPHA:848
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Paresis of extensor muscles of the big toe, Abnormality of the hand, Hand muscle weakness, Abnorm...	ORPHA:99947
14Q24.1Q24.3 Microdeletion Syndrome	Limited elbow extension and supination, Ventricular septal defect, Intestinal malrotation, Short ...	ORPHA:401935
Fanconi Anemia, Complementation Group C	Ventricular septal defect, Anemic pallor, Absent thumb, Absent radius, Short thumb, Microphthalmi...	OMIM:227645
Limb Body Wall Complex	Cutaneous finger syndactyly, Atrial septal defect, Aplasia of the proximal phalanges of the hand,...	ORPHA:2369
Basal Cell Nevus Syndrome 1	Down-sloping shoulders, Spina bifida, Palmar pits, Hydrocephalus, Hamartomatous stomach polyps, I...	OMIM:109400
Basel-Vanagaite-Smirin-Yosef Syndrome	Finger syndactyly, Atrial septal defect, Overlapping toe, Single transverse palmar crease, Ventri...	ORPHA:464738
Holoprosencephaly 9	Anophthalmia, Optic nerve hypoplasia, Postaxial hand polydactyly, Hydrocephalus, Cleft palate, Bi...	OMIM:610829
Fanconi Anemia	Abnormal femur morphology, High palate, Triphalangeal thumb, Atrial septal defect, Clinodactyly o...	ORPHA:84
Temtamy Syndrome	Hip dislocation, Short 2nd toe, Talipes equinovarus, Microphthalmia, Brachydactyly	OMIM:218340
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Microphthalmia	OMIM:251270
9Q21.13 Microdeletion Syndrome	Abnormal tongue morphology, Abnormal heart morphology, Hip dysplasia, Syringomyelia, Polydactyly	ORPHA:531151
Refsum Disease	Short metacarpal, Hammertoe, Abnormal epiphysis morphology, Microphthalmia, Dry skin	ORPHA:773
Pulmonary Atresia With Ventricular Septal Defect	Ventricular septal defect	OMIM:178370
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Exaggerated median tongue furrow, Ventricular septal defect, Submucous cleft soft palate, Aplasia...	OMIM:608670
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Microphthalmia	ORPHA:1473
Bohring-Opitz Syndrome	Syndactyly, Bilateral cleft palate, Overlapping toe, Ulnar deviation of the wrist, Ventricular se...	OMIM:605039
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Microphthalmia, High palate, Cleft palate	ORPHA:1135
Joubert Syndrome 10	Postaxial polydactyly	OMIM:300804
Leishmaniasis	Pallor, Skin ulcer	ORPHA:507
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Scapular winging, High palate, Pallor	OMIM:600462
Congenital Disorder Of Glycosylation, Type Iq	Microphthalmia, Dry skin, Cutis laxa	OMIM:612379
Microphthalmia, Syndromic 3	Optic nerve aplasia, Anophthalmia, Ventricular septal defect, Optic nerve hypoplasia, Esophageal ...	OMIM:206900
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Left ventricular hypertrophy, Microphthalmia, Hydrocephalus	OMIM:613153
Congenital Muscular Dystrophy With Cerebellar Involvement	Occipital encephalocele, Optic nerve hypoplasia, Hydrocephalus, Macroglossia, Cardiomyopathy, Mic...	ORPHA:370959
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Bicuspid aortic valve, Short palm, Clinodactyly of the 5th finger, Atrioventricular canal defect,...	ORPHA:508498
Orofaciodigital Syndrome V	Sandal gap, Ventricular septal defect, Postaxial polydactyly, Hamartoma of tongue, Aganglionic me...	OMIM:174300
Diamond-Blackfan Anemia 6	Ventricular hypertrophy, Ventricular septal defect, Short thumb, Cleft palate, Mitral valve prola...	OMIM:612561
Congenital Heart Defects, Multiple Types, 5	Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ...	OMIM:617912
Short Stature-Micrognathia Syndrome	Rhizomelia, Ventricular septal defect, Bowing of the legs, Coxa valga, Metaphyseal widening, 2-3 ...	OMIM:617164
Myoclonic-Astatic Epilepsy	Microphthalmia, Syndactyly, Premature skin wrinkling	ORPHA:1942
Trigonocephaly With Short Stature And Developmental Delay	Clinodactyly of the 5th finger, High palate, Ventricular septal defect	OMIM:314320
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies	Overlapping toe, Down-sloping shoulders, Ventricular septal defect, Tapered finger, High palate, ...	OMIM:617452
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation	Atrial septal defect, Ventricular septal defect	OMIM:608227
Holoprosencephaly-Postaxial Polydactyly Syndrome	Encephalocele, Intestinal malrotation, Polyhydramnios, Postaxial hand polydactyly, Hydrocephalus,...	ORPHA:2166
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Anophthalmia, Failure of eruption of permanent teeth, Submucous cleft hard palate, Cleft palate, ...	ORPHA:2250
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Aplastic clavicle, Micromelia, Postaxial polydactyly, Hamartoma of tongue, Polyhydramnios, Hydroc...	OMIM:616546
Teebi-Shaltout Syndrome	Syndactyly, Ulnar deviation of the hand, Ventricular septal defect, Single transverse palmar crea...	OMIM:272950
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Intrauterine growth retardation, Ventricular septal defect, Hypoplastic left heart, Micromelia	ORPHA:2772
Hadziselimovic Syndrome	Ventricular hypertrophy, Ventricular septal defect, High palate, Atrial septal defect, Tetralogy ...	OMIM:612946
Degcags Syndrome	Polyhydramnios, High palate, Pallor, Atrial septal defect, Patent foramen ovale, Syndactyly, Hiat...	OMIM:619488
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Natal tooth, Postaxial polydactyly, Hamartoma of tongue, Esophageal diverticulum, Complete atriov...	OMIM:617925
Primary Myelofibrosis	Ecchymosis, Pallor, Petechiae, Purpura	ORPHA:824
C Syndrome	Short metacarpal, Toe syndactyly, Ventricular septal defect, Micromelia, Postaxial hand polydacty...	OMIM:211750
Cone-Rod Dystrophy 16	Postaxial polydactyly	OMIM:614500
Fanconi Anemia, Complementation Group F	Atrial septal defect, Polyhydramnios, Absent thumb, Short thumb, Hypoplasia of the radius, 2-3 fi...	OMIM:603467
Myelofibrosis	Pallor, Purpura	OMIM:254450
Tricuspid Atresia	Ventricular septal defect, Hypoplasia of right ventricle, Transposition of the great arteries, At...	ORPHA:1209
Fanconi Anemia, Complementation Group E	Anemic pallor, Absent thumb, Absent radius, Short thumb, Microphthalmia, Complete duplication of ...	OMIM:600901
Trigonocephaly-Short Stature-Developmental Delay Syndrome	High palate, Ventricular septal defect, Fifth finger distal phalanx clinodactyly	ORPHA:3369
Oculoauriculofrontonasal Syndrome	Encephalocele, Ventricular septal defect, Cleft palate	ORPHA:398156
Irida Syndrome	Pallor	ORPHA:209981
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Encephalocele, Finger syndactyly, Broad hallux phalanx, Preaxial hand polydactyly, Exencephaly, B...	ORPHA:2211
Basel-Vanagaite-Smirin-Yosef Syndrome	Ventricular septal defect, Single transverse palmar crease, 2-3 toe syndactyly, Cleft palate, Fur...	OMIM:616449
Retinitis Pigmentosa 89	Esophageal varix, Bicuspid aortic valve, Postaxial polydactyly	OMIM:618955
Joubert Syndrome 20	4-5 toe syndactyly, Postaxial polydactyly	OMIM:614970
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Abnormal palmar dermatoglyphics, Cleft palate, Atrial septal defect, Microphthalmia, Intrauterine...	ORPHA:2728
Fanconi Anemia, Complementation Group D2	Anemic pallor, Absent thumb, Absent radius, Preaxial hand polydactyly, Short thumb, Partial dupli...	OMIM:227646
Emanuel Syndrome	Congenital hip dislocation, Truncus arteriosus, Ventricular septal defect, Delayed eruption of pr...	OMIM:609029
Megabladder, Congenital	Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompa...	OMIM:618719
Nance-Horan Syndrome	Microphthalmia, Short metacarpal	ORPHA:627
Meckel Syndrome, Type 1	Occipital encephalocele, Lobulated tongue, Syndactyly, Postaxial foot polydactyly, Abnormal cardi...	OMIM:249000
Non-Functioning Paraganglioma	Pallor	ORPHA:94080
Ritscher-Schinzel Syndrome 3	Hypoplasia of the ulna, Ulnar bowing, Shortening of all distal phalanges of the fingers, Epiphyse...	OMIM:619135
Joubert Syndrome 37	Microphthalmia, Postaxial polydactyly	OMIM:619185
Fetal Alcohol Syndrome	Microphthalmia, Intrauterine growth retardation, Atrial septal defect, Cleft palate	ORPHA:1915
Weill-Marchesani Syndrome	Ventricular septal defect, Short thumb, Pulmonic stenosis, Aortic valve stenosis, Brachydactyly	ORPHA:3449
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Long toe, Overlapping toe, Ventricular septal defect, Parachute mitral valve, Intestinal malrotat...	OMIM:618316
Keratoderma Hereditarium Mutilans	Abnormal spinal cord morphology, Autoamputation of digits, Cleft palate, Honeycomb palmoplantar h...	ORPHA:494
20P13 Microdeletion Syndrome	Finger syndactyly, Clinodactyly, Polydactyly, Brachydactyly	ORPHA:313781
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly	Short long bone, Polydactyly, Brachydactyly	OMIM:613819
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Microphthalmia, Optic nerve hypoplasia	OMIM:615181
Contractural Arachnodactyly, Congenital	Hip contracture, Bowing of the long bones, Arachnodactyly, Bicuspid aortic valve, Ventricular sep...	OMIM:121050
Stevenson-Carey Syndrome	Hip dysplasia, Camptodactyly, Atrial septal defect, Microphthalmia, Joint contracture of the hand	OMIM:611961
Inverted Duplicated Chromosome 15 Syndrome	Ventricular septal defect, 2-3 toe syndactyly, High palate, Talipes equinovarus, Clinodactyly of ...	ORPHA:3306
Oculogastrointestinal Neurodevelopmental Syndrome	Bilateral microphthalmos, Bicuspid aortic valve, Unilateral microphthalmos, Anal atresia	OMIM:619318
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia	Abnormal spinal cord morphology, Acral ulceration, Skin ulcer	ORPHA:139578
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Syndactyly, Postaxial polydactyly, Polyhydramnios, Preaxial polydactyly, Femoral bowing, Short lo...	OMIM:615503
Pentalogy Of Cantrell	Encephalocele, Ventricular septal defect, Abnormal pericardium morphology, Abnormal tibia morphol...	ORPHA:1335
Microphthalmia, Syndromic 11	Microphthalmia	OMIM:614402
Spondylo-Ocular Syndrome	Microphthalmia, Aplasia/Hypoplasia of the lens, Ventricular septal defect	ORPHA:85194
Cerebrocostomandibular Syndrome	Ventricular septal defect, Spina bifida, Myelomeningocele, Meningocele, Cleft palate, Glossoptosi...	ORPHA:1393
Emanuel Syndrome	Delayed eruption of teeth, Congenital hip dislocation, Truncus arteriosus, Ventricular septal def...	ORPHA:96170
Ritscher-Schinzel Syndrome 2	Syndactyly, Atrial septal defect, Broad hallux, Overlapping toe, Camptodactyly of finger, Ventric...	OMIM:300963
Atelis Syndrome 1	Atrial septal defect, High palate, Dry skin, Ventricular septal defect	OMIM:620184
Developmental And Epileptic Encephalopathy 1	Microphthalmia	OMIM:308350
Microphthalmia With Linear Skin Defects Syndrome	Anophthalmia, Hydrocephalus, Dilated cardiomyopathy, Erythema, Mitral valve prolapse, Abnormal ca...	ORPHA:2556
Li-Ghorbani-Weisz-Hubshman Syndrome	Clinodactyly of the 5th finger, Atrial septal defect, Ventricular septal defect, Overlapping toe	OMIM:618974
Joubert Syndrome 7	Encephalocele, Postaxial hand polydactyly, Postaxial polydactyly, Genu valgum	OMIM:611560
Fraser Syndrome	Encephalocele, Finger syndactyly, Anal stenosis, Toe syndactyly, Anophthalmia, Anal atresia, Myel...	ORPHA:2052
Intellectual Developmental Disorder, Autosomal Dominant 23	Broad distal phalanx of finger, Sandal gap, Postaxial polydactyly	OMIM:615761
Fanconi Anemia, Complementation Group A	Anemic pallor, Absent thumb, Absent radius, Short thumb, Microphthalmia, Complete duplication of ...	OMIM:227650
Craniofaciofrontodigital Syndrome	Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morp...	ORPHA:363705
Fanconi Anemia, Complementation Group S	Microphthalmia, Clinodactyly, Proximal placement of thumb	OMIM:617883
Warsaw Breakage Syndrome	Ventricular septal defect, Single transverse palmar crease, 2-3 toe syndactyly, High palate, Clin...	OMIM:613398
Chromosome 5Q12 Deletion Syndrome	Long toe, Ventricular septal defect, Long fingers, Increased nuchal translucency, Macroglossia, A...	OMIM:615668
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Broad hallux, Ventricular septal defect, Clinodactyly of the 2nd toe, Coxa valga, Short distal ph...	OMIM:620073
Chromosome 6Pter-P24 Deletion Syndrome	Broad toe, Atrial septal defect, Ventricular septal defect, Rocker bottom foot, Hydrocephalus, Sh...	OMIM:612582
19P13.3 Microduplication Syndrome	Ventricular septal defect, Long fingers, Hip dislocation, Cleft palate, Hip dysplasia, Intrauteri...	ORPHA:447980
Recombinant Chromosome 8 Syndrome	Atrial septal defect, Ventricular septal defect, Tetralogy of Fallot, Pulmonic stenosis, Camptoda...	OMIM:179613
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Cleft palate, Tetralogy of Fallot, Ventricular septal defect, Abnormal hip bone morphology	ORPHA:1166
Diamond-Blackfan Anemia	Ventricular septal defect, Cleft soft palate, Nonimmune hydrops fetalis, Absent thumb, Short thum...	ORPHA:124
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Ulnar deviation of the hand, Ventricular septal defect, Proximal placement of thumb, Patent foram...	OMIM:620113
Li-Campeau Syndrome	Ventricular septal defect, Single transverse palmar crease, Patellar hypoplasia, Atrial septal de...	OMIM:619189
Microphthalmia, Syndromic 6	Finger syndactyly, Thumb contracture, Toe syndactyly, Anophthalmia, Single transverse palmar crea...	OMIM:607932
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Pallor	OMIM:613839
Cockayne Syndrome Type 1	Anophthalmia, Delayed eruption of primary teeth	ORPHA:90321
Lymphedema-Distichiasis Syndrome	Predominantly lower limb lymphedema, Ventricular septal defect, Nonimmune hydrops fetalis, Lymphe...	OMIM:153400
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Syndactyly, Ventricular septal defect, Micromelia, Postaxial polydactyly, Hypoplastic ilia, Hypop...	OMIM:617895
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Microphthalmia, High palate, Broad hallux, Single transverse palmar crease	OMIM:614105
Microphthalmia, Isolated, With Corectopia	Microphthalmia	OMIM:156900
Conotruncal Heart Malformations	Broad hallux, Postaxial polydactyly, Complete atrioventricular canal defect, Double outlet right ...	OMIM:217095
Rhombencephalosynapsis	Finger syndactyly, Septo-optic dysplasia, Aganglionic megacolon, Esophageal atresia, Hydrocephalu...	ORPHA:59315
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction	Ventricular septal defect	OMIM:613759
Multiple Benign Circumferential Skin Creases On Limbs	Edema, Cleft palate, Upper limb asymmetry, Umbilical hernia, Microphthalmia	ORPHA:2505
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Pallor	OMIM:611590
Fumarase Deficiency	Necrotizing enterocolitis, Polyhydramnios, Perimembranous ventricular septal defect, High palate,...	OMIM:606812
Adams-Oliver Syndrome 1	Encephalocele, Toe syndactyly, Bicuspid aortic valve, Ventricular septal defect, Cleft palate, Hy...	OMIM:100300
Joubert Syndrome 23	Polydactyly	OMIM:616490
Noonan Syndrome 8	Atrial septal defect, Ventricular septal defect, Polyhydramnios, Pleural effusion, Pulmonic steno...	OMIM:615355
Orofaciodigital Syndrome Type 6	Syndactyly, Mesoaxial polydactyly, Hamartoma of tongue, Central Y-shaped metacarpal, Preaxial pol...	ORPHA:2754
Diamond-Blackfan Anemia 7	Small hypothenar eminence, Ventricular septal defect, Polyhydramnios, Secundum atrial septal defe...	OMIM:612562
Nasopalpebral Lipoma-Coloboma Syndrome	Clinodactyly of the 5th finger, Microphthalmia	OMIM:167730
Lymphatic Malformation 7	Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha...	OMIM:617300
Esophageal Atresia	Barrett esophagus, Ventricular septal defect, Intestinal malrotation, Polyhydramnios, Pyloric ste...	ORPHA:1199
Endocrine-Cerebroosteodysplasia	Syndactyly, Bowed forearm bones, Ulnar deviation of the hand, Sandal gap, Single transverse palma...	OMIM:612651
Braddock-Carey Syndrome 1	Aortic valve prolapse, Ventricular septal defect, Small hand, Cleft palate, Anteriorly placed anu...	OMIM:619980
Weill-Marchesani Syndrome 2	Short metacarpal, Striae distensae, Ventricular septal defect, Microspherophakia, Short metatarsa...	OMIM:608328
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome	Atrial septal defect, Bicuspid aortic valve, Single transverse palmar crease, Ventricular septal ...	ORPHA:329224
Aase-Smith Syndrome I	Ventricular septal defect, Hydrocephalus, Cleft palate, Talipes equinovarus, Slender finger	OMIM:147800
Miller-Dieker Lissencephaly Syndrome	Delayed eruption of teeth, Single transverse palmar crease, Polyhydramnios, Cleft palate, Abnorma...	OMIM:247200
Microcephaly-Capillary Malformation Syndrome	Ventricular septal defect, Cleft palate, Right ventricular hypertrophy, Atrial septal defect, Cli...	OMIM:614261
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Hamartoma of tongue, Intestinal...	OMIM:613091
Laurence-Moon Syndrome	Polydactyly, Abnormality of the hand	OMIM:245800
Congenital Fibrinogen Deficiency	Clubbing of fingers, Left ventricular hypertrophy, Microphthalmia, Volvulus, Right ventricular hy...	ORPHA:335
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Brachydactyly, Sandal gap, Broad hallux, Microphthalmia, Clinodactyly, 3-4 toe syndactyly	OMIM:618727
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Bilateral single transverse palmar creases, Ventricular septal defect, Cleft palate, Large hands,...	ORPHA:1770
Kury-Isidor Syndrome	Finger syndactyly, Ventricular septal defect, Rocker bottom foot, Proximal placement of thumb, Hi...	OMIM:619762
Chromosome 15Q14 Deletion Syndrome	Atrial septal defect, Ventricular septal defect, Cleft palate	OMIM:616898
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Ventricular septal defect, Postaxial hand polydactyly, Hydrocephalus, Cone-shaped epiphyses of th...	OMIM:615630
Galloway-Mowat Syndrome 3	Arachnodactyly, Edema, Hiatus hernia, Hip dislocation, Oligohydramnios, High palate, Camptodactyl...	OMIM:617729
Fryns Syndrome	Single transverse palmar crease, Proximal placement of thumb, Polyhydramnios, Atrial septal defec...	OMIM:229850
Stromme Syndrome	Jejunal atresia, Optic nerve hypoplasia, Intestinal malrotation, Hydrocephalus, Preaxial polydact...	OMIM:243605
Costello Syndrome	Ventricular septal defect, Redundant skin, Polyhydramnios, Lack of skin elasticity, Narrow palate...	ORPHA:3071
Idiopathic Pulmonary Hemosiderosis	Pallor, Cardiomegaly	ORPHA:99931
Atrial Septal Defect 2	Ventricular septal defect, Dextrocardia, Pulmonic stenosis, Atrial septal defect, Atrioventricula...	OMIM:607941
Distal 22Q11.2 Microdeletion Syndrome	Branchial fistula, Bowing of the long bones, Toe syndactyly, Arachnodactyly, Sandal gap, Camptoda...	ORPHA:261330
Fryns Syndrome	Aganglionic megacolon, Intestinal malrotation, Polyhydramnios, Cleft palate, Duodenal atresia, Ab...	ORPHA:2059
Drug-Induced Autoimmune Hemolytic Anemia	Pallor	ORPHA:90037
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Small hand, Short foot, Severe intrauterine growth retardation, Short palm, Microphthalmia, Bifid...	OMIM:241410
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Microphthalmia, Lymphedema	OMIM:152950
Mend Syndrome	Overlapping toe, Broad hallux, Long fingers, Hydrocephalus, 2-3 toe syndactyly, Cleft palate, Abn...	ORPHA:401973
Nephrotic Syndrome, Type 11	Ventricular septal defect, Arachnodactyly, Partial duplication of thumb phalanx, Dilated cardiomy...	OMIM:616730
Mosaic Variegated Aneuploidy Syndrome	Intestinal polyposis, Atrial septal defect, Stomach cancer, Polyhydramnios, Increased nuchal tran...	ORPHA:1052
Bardet-Biedl Syndrome 3	Postaxial polydactyly, Brachydactyly	OMIM:600151
Meige Disease	Lymph node hypoplasia, Pleural effusion, Absence of lymph node germinal center	ORPHA:90186
19Q13.11 Microdeletion Syndrome	Finger syndactyly, Toe syndactyly, Congenital hip dislocation, Ventricular septal defect, Toe cli...	ORPHA:217346
Baraitser-Winter Syndrome 2	Microphthalmia	OMIM:614583
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Redundant neck skin, Ventricular septal defect, Polyhydramnios, Camptodactyly, Atrial septal defe...	OMIM:617360
Anterior Segment Dysgenesis 5	Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia	OMIM:604229
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Encephalocele, Hydrocephalus, Dilated cardiomyopathy, Myocardial fibrosis, Transposition of the g...	OMIM:253800
Genitopalatocardiac Syndrome	Double outlet right ventricle, Ventricular septal defect, Transposition of the great arteries, Cl...	OMIM:231060
Waldenström Macroglobulinemia	Periorbital edema, Pedal edema, Pallor, Pleural effusion, Purpura	ORPHA:33226
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Bicuspid aortic valve, Ventricular septal defect, Increased nuchal translucency, Cleft palate, Ab...	ORPHA:453499
8Q12 Microduplication Syndrome	Short foot, Atrial septal defect, Ventricular septal defect	ORPHA:228399
19P13.12 Microdeletion Syndrome	Finger syndactyly, Toe clinodactyly, Atrial septal defect, Sandal gap, Ventricular septal defect,...	ORPHA:254346
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Microphthalmia	OMIM:601794
Beta-Ketothiolase Deficiency	Pallor, Edema, Dehydration	ORPHA:134
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Short 5th finger, Ac...	ORPHA:500159
Steinfeld Syndrome	Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Hypoplasia of the radius, Abnormal heart...	OMIM:184705
Baraitser-Winter Syndrome 1	Microphthalmia, Duplication of phalanx of hallux, Bicuspid aortic valve, Aortic valve stenosis	OMIM:243310
Cold Agglutinin Disease	Pallor	ORPHA:56425
Syngap1-Related Developmental And Epileptic Encephalopathy	High palate, Postaxial polydactyly	ORPHA:544254
Hand-Foot-Genital Syndrome	Shortening of all middle phalanges of the fingers, Ventricular septal defect, Short hallux, Proxi...	ORPHA:2438
Triokinase And Fmn Cyclase Deficiency Syndrome	Microphthalmia, Dilated cardiomyopathy	OMIM:618805
Fanconi Anemia, Complementation Group B	Ventricular septal defect, Optic disc hypoplasia, Absent thumb, Esophageal atresia, Hydrocephalus...	OMIM:300514
Acquired Idiopathic Sideroblastic Anemia	Pallor	ORPHA:75564
Myhre Syndrome	Atrial septal defect, Overlapping toe, Ventricular septal defect, Pericardial effusion, Short toe...	OMIM:139210
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Single transverse palmar crease, Micromelia, Delayed epiphyseal ossification, Preaxial polydactyl...	OMIM:210710
Frank-Ter Haar Syndrome	Redundant neck skin, Abnormally large globe, Secundum atrial septal defect, High palate, Short pa...	OMIM:249420
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Microphthalmia	ORPHA:363741
Grange Syndrome	Syndactyly, Ventricular septal defect, Short palm	ORPHA:79094
Heterotaxy, Visceral, 1, X-Linked	Congenital hip dislocation, Polyhydramnios, Cardiomegaly, Aqueductal stenosis, Dextrotranspositio...	OMIM:306955
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Pallor	OMIM:246450
Congenital Heart Defects, Multiple Types, 2	Bicuspid aortic valve, Ventricular septal defect, Myxomatous mitral valve degeneration, Subvalvul...	OMIM:614980
Bardet-Biedl Syndrome 8	Situs inversus totalis, Postaxial polydactyly	OMIM:615985
Adams-Oliver Syndrome 6	Syndactyly, Ventricular septal defect, Esophageal varix, Foot oligodactyly, Truncus arteriosus, B...	OMIM:616589
Filippi Syndrome	Enlarged epiphyses, Finger syndactyly, Ventricular septal defect, Clinodactyly of the 5th finger,...	ORPHA:3255
Okamoto Syndrome	Exaggerated median tongue furrow, Anal stenosis, Tethered cord, Ventricular septal defect, Intest...	ORPHA:2729
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Ventricular septal defect, Polyhydramnios, Hydrops fetalis, Intestinal atresia, Abnormal tricuspi...	ORPHA:3405
Renal Cysts And Diabetes Syndrome	Hypospadias, Proteinuria, Unilateral renal agenesis, Renal hypoplasia, Renal cyst, Stage 5 chroni...	OMIM:137920
Familial Exudative Vitreoretinopathy	Microphthalmia, Macular edema, Lymphedema	ORPHA:891
Coffin-Siris Syndrome 7	Ventricular septal defect, Bicuspid aortic valve, Polyhydramnios, Oligohydramnios, Clinodactyly o...	OMIM:618027
Agammaglobulinemia, X-Linked	Recurrent pneumonia, Epididymitis, Bronchiectasis, Bronchiolitis obliterans, Lymph node hypoplasi...	OMIM:300755
Orofaciodigital Syndrome I	Syndactyly, Hamartoma of tongue, Myelomeningocele, Hydrocephalus, Cleft palate, Abnormal heart mo...	OMIM:311200
Purine Nucleoside Phosphorylase Deficiency	Pneumonia, Splenomegaly, Recurrent upper respiratory tract infections, Lymph node hypoplasia, Rec...	OMIM:613179
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Atrial septal defect, Ventricular septal defect, Cleft palate, Short 5th finger, High palate, Tri...	OMIM:220500
Cooper-Jabs Syndrome	Ventricular septal defect, Camptodactyly of finger, Proximal placement of thumb, Anteriorly place...	ORPHA:1488
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Bicuspid aortic valve, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification, Hi...	OMIM:271640
Retinitis Pigmentosa 75	Pallor	OMIM:617023
Mixed-Type Autoimmune Hemolytic Anemia	Pallor	ORPHA:90036
Mend Syndrome	Redundant neck skin, Overlapping toe, Broad hallux, Long fingers, Hydrocephalus, 2-3 toe syndacty...	OMIM:300960
Joubert Syndrome 27	Polydactyly	OMIM:617120
Prune Belly Syndrome	Congenital hip dislocation, Ventricular septal defect, Intestinal malrotation, Oligohydramnios, T...	ORPHA:2970
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Radial bowing, Single transverse palmar crease, Micromelia, Postaxial polydactyly, Ulnar bowing, ...	OMIM:617866
X-Linked Dominant Chondrodysplasia Punctata	Neonatal epiphyseal stippling, Hip dislocation, Upper limb asymmetry, Epiphyseal stippling, Talip...	ORPHA:35173
Joubert Syndrome 21	Encephalocele, Occipital encephalocele, Anophthalmia	OMIM:615636
Proboscis Lateralis	Anophthalmia, Ventricular septal defect, Optic nerve hypoplasia, High palate, Holoprosencephaly, ...	ORPHA:141099
Microphthalmia-Brain Atrophy Syndrome	Bilateral microphthalmos	ORPHA:77299
Left Ventricular Noncompaction 1	Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricular noncompaction cardiomyo...	OMIM:604169
Apert Syndrome	Limited elbow movement, Delayed epiphyseal ossification, Cutaneous finger syndactyly, Broad dista...	OMIM:101200
Anemia, Sideroblastic, 1	Anemic pallor	OMIM:300751
Oculodentodigital Dysplasia, Autosomal Recessive	Broad long bones, Fifth finger distal phalanx clinodactyly, 4-5 finger syndactyly, 3-4 finger cut...	OMIM:257850
Jansen-De Vries Syndrome	Bicuspid aortic valve, Ventricular septal defect, Small hand, Short foot, Brachydactyly	OMIM:617450
Trichothiodystrophy 3, Photosensitive	Natal tooth, Pyloric stenosis, Microphthalmia, Meckel diverticulum, Intrauterine growth retardation	OMIM:616395
Jacobsen Syndrome	Atrial septal defect, Ventricular septal defect, Pyloric stenosis, Hydrocephalus, Macular hypopla...	OMIM:147791
Joubert Syndrome 17	Preaxial polydactyly, Postaxial polydactyly, 3-4 finger syndactyly	OMIM:614615
Anemia, Hypochromic Microcytic, With Iron Overload 2	Pallor	OMIM:615234
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Overriding aorta, Bicuspid aortic valve, Sandal gap, Ventricular septal defect, 2-3 toe syndactyl...	ORPHA:477817
Deafness, X-Linked 7	Unilateral microphthalmos	OMIM:301018
Cardioacrofacial Dysplasia 1	Postaxial polydactyly, Complete atrioventricular canal defect, Genu valgum, Limb undergrowth, Atr...	OMIM:619142
Larsen Syndrome	Short metacarpal, Ventricular septal defect, Spatulate thumbs, Elbow dislocation, Spinal cord com...	OMIM:150250
Sepsis In Premature Infants	Edema, Pallor, Petechiae, Purpura	ORPHA:90051
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency	Pallor	ORPHA:13
Burn-Mckeown Syndrome	Ventricular septal defect, 2-3 toe syndactyly, Cleft palate, Atrial septal defect, Bifid uvula	OMIM:608572
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Hypertrophic cardiomyopathy, Ventricular septal defect	OMIM:616277
Chromosome 18Q Deletion Syndrome	Toe syndactyly, Overlapping toe, Rocker bottom foot, Proximal placement of thumb, Absence of the ...	OMIM:601808
Mckusick-Kaufman Syndrome	Finger syndactyly, Ventricular septal defect, Tarsal synostosis, Aganglionic megacolon, Postaxial...	ORPHA:2473
Plummer-Vinson Syndrome	Glossitis, Tongue atrophy, Esophageal web, Pallor	ORPHA:54028
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Microphthalmia, Overlapping toe, Cleft palate, Abnormal heart morphology	OMIM:618571
Chromosome 9P Deletion Syndrome	Long toe, Sandal gap, Ventricular septal defect, Hallux varus, Tapered finger, High, narrow palat...	OMIM:158170
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Atrial septal defect, Scapular winging, Sandal gap, Single transverse palmar crease, Ventricular ...	OMIM:617061
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Brachydactyly, Aplasia of the distal phalanx of the 5th toe, Oligohydramnios, Cleft palate, Aplas...	ORPHA:364577
Kapur-Toriello Syndrome	Microphthalmia, Tetralogy of Fallot, Ventricular septal defect, Intestinal malrotation	ORPHA:2328
Catel-Manzke Syndrome	Single transverse palmar crease, Glossoptosis, High palate, Clinodactyly of the 5th finger, Bifid...	OMIM:616145
Nance-Horan Syndrome	Microphthalmia, Short phalanx of finger, Broad finger	OMIM:302350
Rabson-Mendenhall Syndrome	Ventricular septal defect, Furrowed tongue, Cardiomyopathy, Advanced eruption of teeth, Macroglos...	ORPHA:769
Methimazole Embryofetopathy	Ventricular septal defect, Polyhydramnios, Esophageal atresia, Tracheoesophageal fistula, Intraut...	ORPHA:1923
Encephalocraniocutaneous Lipomatosis	Ventricular septal defect, Hydrocephalus, Hypoplasia of the iris, Subvalvular aortic stenosis, At...	OMIM:613001
Vater/Vacterl Association	Occipital encephalocele, Syndactyly, Tethered cord, Ventricular septal defect, Spina bifida, Abse...	OMIM:192350
Osteopathia Striata With Cranial Sclerosis	Polyhydramnios, Osteopathia striata, High palate, Atrial septal defect, Clinodactyly of the 5th f...	OMIM:300373
Tarp Syndrome	Finger syndactyly, Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Cl...	ORPHA:2886
Codas Syndrome	Delayed eruption of teeth, Short metacarpal, Congenital hip dislocation, Ventricular septal defec...	ORPHA:1458
Lateral Meningocele Syndrome	Tethered cord, Ventricular septal defect, Bicuspid aortic valve, Hydrocephalus, Meningocele, Clef...	OMIM:130720
Mitochondrial Complex Iii Deficiency, Nuclear Type 7	Intrauterine growth retardation, Postaxial polydactyly, Oligohydramnios	OMIM:615824
Galloway-Mowat Syndrome 1	Hiatus hernia, Hypoplasia of the iris, High palate, Talipes equinovarus, Camptodactyly, Hand clen...	OMIM:251300
Developmental And Epileptic Encephalopathy 66	Clinodactyly of the 5th finger, Atrial septal defect, Ventricular septal defect, Dextrocardia	OMIM:618067
Yuan-Harel-Lupski Syndrome	Bicuspid aortic valve, Sandal gap, Ventricular septal defect, Syringomyelia, High palate, Clinoda...	OMIM:616652
Joubert Syndrome 2	Encephalocele, Postaxial hand polydactyly, Hydrocephalus, Postaxial foot polydactyly, High palate...	OMIM:608091
Chromosome 13Q14 Deletion Syndrome	Overlapping toe, Single transverse palmar crease, Ventricular septal defect, Patent foramen ovale...	OMIM:613884
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Microphthalmia, Optic nerve hypoplasia	OMIM:614833
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Pallor	ORPHA:263455
Rubinstein-Taybi Syndrome 1	Single transverse palmar crease, Polyhydramnios, High, narrow palate, High palate, Hypoplastic il...	OMIM:180849
Koolen-De Vries Syndrome	Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Pyloric stenosis, Hypotro...	OMIM:610443
Ellis Van Creveld Syndrome	Delayed eruption of teeth, Ventricular septal defect, Dextrocardia, Micromelia, Abnormal heart va...	ORPHA:289
Pallister-Hall Syndrome	Holoprosencephaly, Atrial septal defect, Atrioventricular canal defect, Bifid uvula, Mesoaxial po...	ORPHA:672
Woods Syndrome	Ventricular septal defect, Limited elbow extension, 3-4 finger cutaneous syndactyly, Single trans...	OMIM:615236
Roberts-Sc Phocomelia Syndrome	Polyhydramnios, Tetraphocomelia, High palate, Atrial septal defect, Phocomelia, Wrist flexion con...	OMIM:268300
22Q11.2 Deletion Syndrome	Polyhydramnios, Atrial septal defect, Arachnodactyly, Spina bifida, Umbilical hernia, Truncus art...	ORPHA:567
3-Hydroxy-3-Methylglutaric Aciduria	Dilated cardiomyopathy, Pallor, Edema, Dehydration	ORPHA:20
Craniofacial Microsomia 1	Occipital encephalocele, Anophthalmia, Ventricular septal defect, Partial duplication of thumb ph...	OMIM:164210
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Overriding aorta, Ventricular septal defect, Nonimmune hydrops fetalis, Intrauterine growth retar...	OMIM:617021
Hogue-Janssen Syndrome 2	Broad hallux, Postaxial polydactyly, Hydrocephalus, Hip dysplasia, Deviation of the 5th finger	OMIM:616362
Brachytelephalangic Chondrodysplasia Punctata	Calcaneal epiphyseal stippling, Optic disc hypoplasia, Optic nerve hypoplasia, Ventricular septal...	ORPHA:79345
Fadd-Related Immunodeficiency	Ventricular septal defect	ORPHA:306550
Intellectual Developmental Disorder, Autosomal Dominant 47	Intrauterine growth retardation, Increased nuchal translucency, Ventricular septal defect	OMIM:617635
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Redundant neck skin, Ventricular septal defect, Polyhydramnios, Lymphedema, Postaxial hand polyda...	OMIM:235255
Dominant Beta-Thalassemia	Bowing of the long bones, Dilated cardiomyopathy, Skin ulcer, Genu valgum, Pallor	ORPHA:231226
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Aganglionic megacolon, Ventricular septal defect, Tapered finger, Interphalangeal thumb joint con...	OMIM:613870
Ventriculomegaly With Cystic Kidney Disease	Hydrocephalus, Polyhydramnios, Ventricular septal defect, Postaxial polydactyly	OMIM:219730
Branchiooculofacial Syndrome	Anophthalmia, Single transverse palmar crease, Proximal placement of thumb, Malrotation of colon,...	OMIM:113620
Fontaine Progeroid Syndrome	Syndactyly, Atrial septal defect, Dermal translucency, Bicuspid aortic valve, Redundant skin, Pro...	OMIM:612289
Hallermann-Streiff Syndrome	Natal tooth, Spina bifida, Abnormality of the hand, High, narrow palate, Metaphyseal widening, Na...	OMIM:234100
Incontinentia Pigmenti	Delayed eruption of teeth, Finger syndactyly, Camptodactyly of finger, Abnormal hand morphology, ...	ORPHA:464
Idiopathic Uveal Effusion Syndrome	Microphthalmia	ORPHA:209956
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Redundant neck skin, Ventricular septal defect, Polyhydramnios, Abnormally large globe, Postaxial...	ORPHA:1655
Mosaic Trisomy 16	Syndactyly, Ventricular septal defect, Single transverse palmar crease, Large placenta, Short thu...	ORPHA:1708
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Atrial septal defect, Intrauterine growth retardation, Postaxial hand polydactyly, Ventricular se...	ORPHA:75389
Incontinentia Pigmenti	Hypoplasia of the fovea, Microphthalmia, Erythema, Pallor	OMIM:308300
Autosomal Dominant Keratitis	Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A...	ORPHA:2334
Cone-Rod Dystrophy 8	Pallor	OMIM:605549
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Lymph node hypoplasia, Pneumonia, Absent tonsils	ORPHA:276
Intellectual Developmental Disorder, Autosomal Dominant 48	Umbilical hernia, Ventricular septal defect, Bicuspid aortic valve, Intrauterine growth retardation	OMIM:617751
Tay-Sachs Disease	Pallor	OMIM:272800
Beta-Thalassemia Intermedia	Spinal cord compression, Pallor, Skin ulcer	ORPHA:231222
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Single transverse palmar crease, 2-3 toe syndactyly, Cleft palate, Joint contracture of the 5th f...	OMIM:620098
Lateral Meningocele Syndrome	Ventricular septal defect, High, narrow palate, Meningocele, Dural ectasia, Syringomyelia, High p...	ORPHA:2789
Down Syndrome	Redundant neck skin, Single transverse palmar crease, Hypoplastic iliac wing, Atrial septal defec...	OMIM:190685
Premature Aging Syndrome, Penttinen Type	Brachydactyly, Palmoplantar hyperkeratosis, Tibial bowing, Short foot, Slender long bone, Corneal...	OMIM:601812
Generalized Juvenile Polyposis/Juvenile Polyposis Coli	Anemic pallor, Edema	ORPHA:329971
Primary Non-Essential Cutis Verticis Gyrata	Atrial septal defect, Ventricular septal defect	ORPHA:357225
Intellectual Developmental Disorder, X-Linked, Syndromic, 35	Atrial septal defect, Contracture of the proximal interphalangeal joint of the 2nd finger, Ventri...	OMIM:300998
Maternal Phenylketonuria	Ventricular septal defect, Bifid distal phalanx of the thumb, Esophageal atresia, Double outlet r...	ORPHA:2209
Cranioectodermal Dysplasia 3	Rhizomelia, Sandal gap, Postaxial polydactyly, 2-4 toe syndactyly, 2-3 toe syndactyly, Cutis laxa...	OMIM:614099
Pyruvate Dehydrogenase E1-Alpha Deficiency	Limb undergrowth, Intrauterine growth retardation, Ventricular septal defect, Single transverse p...	ORPHA:79243
Lymphedema, Cardiac Septal Defects, And Characteristic Facies	Overriding aorta, Ventricular septal defect, Lymphedema, Hydrops fetalis, Atrial septal defect, O...	OMIM:601927
Acrofacial Dysostosis 1, Nager Type	Aplasia/Hypoplasia of the thumb, Aqueductal stenosis, Foot oligodactyly, Triphalangeal thumb, Bro...	OMIM:154400
Warburg Micro Syndrome 2	Overlapping toe, Microphthalmia, Clinodactyly of the 4th toe, Clinodactyly of the 5th toe	OMIM:614225
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Ventricular septal defect, Intestinal malrotation, Hamartoma of tongue, Preaxial hand polydactyly...	OMIM:263520
Radio-Tartaglia Syndrome	Ventricular septal defect, Tapered finger, High, narrow palate, High palate, Dry skin, Striae dis...	OMIM:619312
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation	Ventricular septal defect, Talipes equinovarus	OMIM:209770
Congenital Heart Defects And Skeletal Malformations Syndrome	Atrial septal defect, Arachnodactyly, Sandal gap, Ventricular septal defect, Intestinal malrotati...	OMIM:617602
3Q29 Microdeletion Syndrome	Tapered finger, High palate, Subvalvular aortic stenosis, Clinodactyly of the 5th finger, Microph...	ORPHA:65286
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Ventricular septal defect, Polyhydramnios, Large placenta, Abnormal heart morphology, Umbilical h...	ORPHA:254534
Smith-Lemli-Opitz Syndrome	Proximal placement of thumb, Polyhydramnios, Holoprosencephaly, Advanced eruption of teeth, Atria...	ORPHA:818
Elliptocytosis 1	Pallor	OMIM:611804
Multiple Osteochondromas	Deformed radius, Abnormal hand morphology, Metaphyseal widening, Abnormal tibia morphology, Abnor...	ORPHA:321
Idiopathic Hypereosinophilic Syndrome	Swelling of proximal interphalangeal joints, Malabsorption, Angioedema, Dilated cardiomyopathy, C...	ORPHA:3260
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Clinodactyly of the 5th finger, Microphthalmia	OMIM:617306
Codas Syndrome	Delayed eruption of teeth, Short humerus, Short metacarpal, Congenital hip dislocation, Metaphyse...	OMIM:600373
Refractory Anemia With Excess Blasts	Anemic pallor, Pedal edema	ORPHA:86839
Monosomy 9Q22.3	Delayed eruption of teeth, Palmar pits, Hydrocephalus, Cardiac fibroma, Polydactyly, Microphthalm...	ORPHA:77301
Global Developmental Delay With Or Without Impaired Intellectual Development	Atrial septal defect, Ventricular septal defect	OMIM:618330
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Ventricular septal defect, Cleft palate	OMIM:620210
Myopathy, Mitochondrial, And Ataxia	High palate, Pallor	OMIM:617675
Intellectual Developmental Disorder, Autosomal Recessive 71	Ventricular septal defect, Abnormally large globe	OMIM:618504
Tetraamelia-Multiple Malformations Syndrome	Septo-optic dysplasia, Polyhydramnios, Hydrocephalus, Aplasia/Hypoplasia involving the pelvis, Mi...	ORPHA:3301
Oculo-Palato-Cerebral Syndrome	High, narrow palate, Small hand, Cleft palate, Short foot, Microphthalmia, Intrauterine growth re...	ORPHA:2714
Ulnar-Mammary Syndrome	Abnormal morphology of the radius, Ventricular septal defect, Camptodactyly of finger, Abnormalit...	ORPHA:3138
Microcephaly 20, Primary, Autosomal Recessive	Microphthalmia, Optic nerve hypoplasia, Intrauterine growth retardation	OMIM:617914
Lethal Congenital Contracture Syndrome 2	Polyhydramnios, Dilated cardiomyopathy, Ventricular septal defect, Edema	OMIM:607598
Cornea Plana 2, Autosomal Recessive	Microphthalmia	OMIM:217300
Autoimmune Hemolytic Anemia, Warm Type	Pallor	ORPHA:90033
Oculodentodigital Dysplasia	Finger syndactyly, Toe syndactyly, Ventricular septal defect, Camptodactyly of finger, Short hall...	ORPHA:2710
Microphthalmia, Lenz Type	Finger syndactyly, Camptodactyly of finger, Abnormal shoulder morphology, Clinodactyly of the 5th...	ORPHA:568
Hypotonia, Infantile, With Psychomotor Retardation	Ventricular septal defect	OMIM:616816
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Celiac disease, Abnorm...	ORPHA:284169
Linear Skin Defects With Multiple Congenital Anomalies 1	Overriding aorta, Ventricular septal defect, Single transverse palmar crease, Hydrocephalus, Clef...	OMIM:309801
Anterior Segment Dysgenesis 2	Aniridia, Microphthalmia, Congenital aphakia, Anterior segment of eye aplasia	OMIM:610256
Delpire-Mcneill Syndrome	Ventricular septal defect, Hip dislocation, Tracheoesophageal fistula	OMIM:619083
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Unilateral microphthalmos, Mitral valve prolapse, Bilateral cleft lip and palate, High palate, An...	OMIM:618874
Tatton-Brown-Rahman Syndrome	Atrial septal defect, Umbilical hernia, Ventricular septal defect, Optic nerve hypoplasia	OMIM:615879
Mosaic Trisomy 20	Ventricular septal defect, Down-sloping shoulders, Abnormal spinal cord morphology, Dysplastic tr...	ORPHA:1724
Oculodentodigital Dysplasia	Atrial septal defect, 4-5 finger syndactyly, Hip dislocation, Cleft palate, High palate, Joint co...	OMIM:164200
Donnai-Barrow Syndrome	Umbilical hernia, Ventricular septal defect, Intestinal malrotation	ORPHA:2143
De Barsy Syndrome	Delayed eruption of teeth, Dermal translucency, Congenital hip dislocation, Ventricular septal de...	ORPHA:2962
Nasopalpebral Lipoma-Coloboma Syndrome	Clinodactyly of the 5th finger, Microphthalmia, Bilateral microphthalmos	ORPHA:2399
Von Hippel-Lindau Syndrome	Papillary cystadenoma of the epididymis, Pulmonary capillary hemangiomatosis, Multiple renal cyst...	OMIM:193300
Den Hoed-De Boer-Voisin Syndrome	Delayed eruption of teeth, Lactose intolerance, Sandal gap, Ventricular septal defect, Small hand...	OMIM:619229
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Atrial septal defect, Toe syndactyly, Bicuspid aortic valve, Single transverse palmar crease, Pro...	OMIM:610759
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Encephalocele, Hydrocephalus, Cleft palate, Buphthalmos, Macroglossia, Microphthalmia	OMIM:613150
Carpenter Syndrome 2	Single transverse palmar crease, High, narrow palate, Preaxial polydactyly, Coxa vara, Cutaneous ...	OMIM:614976
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Exaggerated median tongue furrow, Bicuspid aortic valve, Optic nerve hypoplasia, Postaxial polyda...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Exaggerated median tongue furrow, Bicuspid aortic valve, Optic nerve hypoplasia, Postaxial polyda...	ORPHA:352665
Beta-Thalassemia Major	Bowing of the long bones, Dilated cardiomyopathy, Skin ulcer, Genu valgum, Pallor	ORPHA:231214
Ectodermal Dysplasia-Blindness Syndrome	Microphthalmia, Skin ulcer	ORPHA:1806
Dyrk1A-Related Intellectual Disability Syndrome	Hallux valgus, Toe syndactyly, Arachnodactyly, Ventricular septal defect, Pyloric stenosis, Oligo...	ORPHA:464306
Microphthalmia, Syndromic 1	Syndactyly, Anophthalmia, Bicuspid aortic valve, Abnormal palmar dermatoglyphics, Down-sloping sh...	OMIM:309800
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Tibial bowing, Shoulder dislocation, High palate, Short phalanx of finger, Bilateral single trans...	OMIM:143095
Chromosome 8Q21.11 Deletion Syndrome	Syndactyly, Short metacarpal, Cleft palate, High palate, Camptodactyly, Microphthalmia, Absent pa...	OMIM:614230
Chromosome 1P36 Deletion Syndrome, Proximal	Bicuspid aortic valve, Ventricular septal defect, Complete atrioventricular canal defect, Dilated...	OMIM:619343
Anterior Segment Dysgenesis 7	Buphthalmos, Microphthalmia	OMIM:269400
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Buphthalmos, Microphthalmia	OMIM:212550
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Occipital encephalocele, Abnormal acetabulum morphology, Redundant neck skin, Postaxial polydacty...	ORPHA:397715
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Microphthalmia, Abnormally large globe	OMIM:615249
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Microphthalmia	ORPHA:231736
Warburg Micro Syndrome 3	Clinodactyly of the 5th finger, Microphthalmia, Narrow palate	OMIM:614222
Noonan Syndrome 10	Atrial septal defect, Ventricular septal defect, Increased nuchal translucency, Mitral valve prol...	OMIM:616564
Autosomal Recessive Robinow Syndrome	Abnormal tricuspid valve morphology, Atrial septal defect, Clinodactyly of the 5th finger, Bilate...	ORPHA:1507
Congenital Gerbode Defect	Ventricular septal defect, Right atrial enlargement, Pedal edema, Perimembranous ventricular sept...	ORPHA:99095
Sotos Syndrome	Ventricular septal defect, High, narrow palate, Muscular ventricular septal defect, Long metacarp...	OMIM:117550
X Small Rings	Toe syndactyly, Bicuspid aortic valve, Ventricular septal defect, Tapered finger, 2-3 toe syndact...	ORPHA:96201
Senior-Loken Syndrome 9	Polydactyly, Hypoplasia of the femoral head	OMIM:616629
Weiss-Kruszka Syndrome	Bicuspid aortic valve, Single transverse palmar crease, Proximal placement of thumb, Ventricular ...	OMIM:618619
Deafness, Congenital Heart Defects, And Posterior Embryotoxon	Tetralogy of Fallot, Ventricular septal defect	OMIM:617992
Hereditary Pheochromocytoma-Paraganglioma	Aniridia, Pallor	ORPHA:29072
Childhood Absence Epilepsy	Pallor	ORPHA:64280
Multifocal Atrial Tachycardia	Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy, ...	ORPHA:3282
Fanconi Anemia, Complementation Group L	Absent thumb, Absent radius, Esophageal atresia, Hydrocephalus, Tracheoesophageal fistula, Cleft ...	OMIM:614083
Klippel-Feil Syndrome 2, Autosomal Recessive	Ventricular septal defect, Cleft palate	OMIM:214300
Loeys-Dietz Syndrome 2	Bicuspid aortic valve, Bicuspid pulmonary valve, Atrial septal defect, Bifid uvula, Syndactyly, A...	OMIM:610168
8Q24.3 Microdeletion Syndrome	Branchial cyst, Congenital hip dislocation, Single transverse palmar crease, Micromelia, Finger c...	ORPHA:508488
Short Stature And Facioauriculothoracic Malformations	High palate, Ventricular septal defect, Cleft palate	OMIM:609654
Ohdo Syndrome, X-Linked	Ulnar deviation of the hand, Overlapping toe, Hiatus hernia, Short thumb, Hip dysplasia, High pal...	OMIM:300895
Weill-Marchesani Syndrome 1	Ventricular septal defect, Microspherophakia, Broad palm, Narrow palate, Pulmonic stenosis, Broad...	OMIM:277600
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Bicuspid aortic valve, Polyhydramnios, High palate, Cervical cord compression, Atrial septal defe...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Bicuspid aortic valve, Polyhydramnios, High palate, Cervical cord compression, Atrial septal defe...	ORPHA:353277
Hereditary Spherocytosis	Restrictive cardiomyopathy, Pallor, Skin ulcer	ORPHA:822
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Broad hallux, Ventricular septal defect, Small hand, Cleft palate, Tibial bowing, Short foot, Bro...	ORPHA:251028
Alagille Syndrome	Hypoplasia of the ulna, Atrial septal defect, Ventricular septal defect, Clinodactyly of the 5th ...	ORPHA:52
Hereditary Folate Malabsorption	Glossitis, Pallor	ORPHA:90045
8Q21.11 Microdeletion Syndrome	Finger syndactyly, Camptodactyly of finger, Abnormal metacarpal morphology, Microphthalmia, Absen...	ORPHA:284160
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Redundant neck skin, Single transverse palmar crease, Polyhydramnios, Tibial bowing, Hypoplastic ...	ORPHA:96334
Bardet-Biedl Syndrome 1	Syndactyly, Aganglionic megacolon, Postaxial polydactyly, High, narrow palate, Postaxial hand pol...	OMIM:209900
Congenitally Uncorrected Transposition Of The Great Arteries	Levotransposition of the great arteries, Ventricular septal defect, Abnormal pulmonary valve morp...	ORPHA:860
Mandibulofacial Dysostosis, Guion-Almeida Type	Ventricular septal defect, Proximal placement of thumb, Preaxial hand polydactyly, Esophageal atr...	OMIM:610536
Autosomal Recessive Malignant Osteopetrosis	Delayed eruption of teeth, Bowing of the long bones, Abnormal pulmonary valve morphology, Hydroce...	ORPHA:667
Letterer-Siwe Disease	Pallor	OMIM:246400
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Syndactyly, Ventricular septal defect, Patent foramen ovale, Furrowed tongue, Hip dysplasia, High...	OMIM:616975
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Bicuspid aortic valve, Single transverse palmar crease, High palate, Atrial septal defect, Clinod...	OMIM:612474
Rodrigues Blindness	Microphthalmia	OMIM:268320
Cranioectodermal Dysplasia 2	Syndactyly, Rhizomelia, Polyhydramnios, Postaxial hand polydactyly, Hydrops fetalis, Cleft palate...	OMIM:613610
Noonan Syndrome 2	Atrial septal defect, Mitral stenosis, Ventricular septal defect, Polyhydramnios, Increased nucha...	OMIM:605275
Congenital Dyserythropoietic Anemia Type Iii	Pallor	ORPHA:98870
Townes-Brocks Syndrome 1	Short metatarsal, Holoprosencephaly, Triphalangeal thumb, Atrial septal defect, 2-4 finger syndac...	OMIM:107480
Trichothiodystrophy 4, Nonphotosensitive	Microphthalmia, Ventricular septal defect	OMIM:234050
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Bicuspid aortic valve, Ventricular septal defect, Abnormal hand morphology, Osteolysis involving ...	ORPHA:371428
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Postaxial polydactyly, Tapered finger, Small hand, Hip dislocation, Cleft palate, Short foot, Hip...	OMIM:300968
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Intestinal obstruction, Ventricular septal defect, Intestinal malrotation, Ileal atresia, Jejunal...	OMIM:243150
Fructose-1,6-Bisphosphatase Deficiency	Pallor	ORPHA:348
Cardiofaciocutaneous Syndrome 3	Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis	OMIM:615279
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Overriding aorta, Abnormality of the hum...	ORPHA:3186
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	High palate, Polydactyly, Abnormal heart morphology	ORPHA:314655
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Hallux valgus, Short metacarpal, Ventricular septal defect, Metaphyseal chondrodysplasia, Intraut...	ORPHA:166035
Distal Deletion 19P	Long toe, Ventricular septal defect, Arachnodactyly, Cleft palate, Tricuspid valve prolapse, Umbi...	ORPHA:96129
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Ventricular septal defect, Persistence of primary teeth, Hiatus hernia, Atrial septal defect, Umb...	OMIM:619769
Au-Kline Syndrome	Overlapping toe, Postaxial polydactyly, Coxa valga, Lipomyelomeningocele, Cleft palate, Deep palm...	OMIM:616580
Kagami-Ogata Syndrome	Atrial septal defect, Ventricular septal defect, Polyhydramnios, Coxa valga, Long fingers, Pulmon...	OMIM:608149
Mosaic Variegated Aneuploidy Syndrome 2	Atrial septal defect, Rhizomelia, Single transverse palmar crease, Ventricular septal defect, Sev...	OMIM:614114
Thiamine-Responsive Megaloblastic Anemia Syndrome	Atrial septal defect, Cardiomyopathy, Ventricular septal defect, Situs inversus totalis	OMIM:249270
Micro Syndrome	Microphthalmia, Intrauterine growth retardation, High palate	ORPHA:2510
Gm1 Gangliosidosis	Ventricular septal defect, Camptodactyly of finger, Hydrops fetalis, Abnormal heart morphology, C...	ORPHA:354
Skraban-Deardorff Syndrome	Ventricular septal defect, Cleft palate	OMIM:617616
Bardet-Biedl Syndrome 6	Syndactyly, Postaxial polydactyly	OMIM:605231
Severe X-Linked Intellectual Disability, Gustavson Type	Congenital hip dislocation, Ventricular septal defect, Rocker bottom foot, Calcaneovalgus deformi...	ORPHA:3078
Transaldolase Deficiency	Ventricular septal defect, Atrial septal defect, Intrauterine growth retardation, Patent foramen ...	OMIM:606003
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Branchial cyst, Atrial septal defect, Natal tooth, Broad hallux, Single transverse palmar crease,...	OMIM:620186
Timothy Syndrome	Ventricular septal defect, Cardiomegaly, Cutaneous syndactyly, Tetralogy of Fallot, Patent forame...	OMIM:601005
Osteopetrosis, Autosomal Recessive 8	Unilateral microphthalmos	OMIM:615085
Pseudoaminopterin Syndrome	Brachydactyly, Overlapping toe, Single transverse palmar crease, Limited elbow movement, Postaxia...	ORPHA:221120
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Dextrotransposition of the great arteries, High palate, Ventricular septal defect, Brachydactyly	OMIM:619995
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Ventricular septal defect, Oligohydramnios, Dehydration, Hip dysplasia, Atrial septal defect, Pat...	OMIM:208085
Skin Creases, Congenital Symmetric Circumferential, 1	Microphthalmia, Long fingers, High palate, Cleft palate	OMIM:156610
Sifrim-Hitz-Weiss Syndrome	Ventricular septal defect, Tapered finger, Flat acetabular roof, Anteriorly placed anus, Short fe...	OMIM:617159
Sporadic Pheochromocytoma/Secreting Paraganglioma	Pallor	ORPHA:276621
Ogden Syndrome	High, narrow palate, Ventricular septal defect, Broad hallux, Cutis laxa	ORPHA:276432
Jacobsen Syndrome	Broad hallux phalanx, Finger syndactyly, Toe syndactyly, Ventricular septal defect, Intestinal ma...	ORPHA:2308
Infection-Related Hemolytic Uremic Syndrome	Edema, Intestinal perforation, Myocarditis, Pleural empyema, Pallor, Intussusception, Acute colit...	ORPHA:544482
Dubowitz Syndrome	Delayed eruption of teeth, Syndactyly, Single transverse palmar crease, Velopharyngeal insufficie...	OMIM:223370
Pearson Marrow-Pancreas Syndrome	Villous atrophy, Malabsorption, Erythema, Hydrops fetalis, Dehydration, Pallor, Steatorrhea	OMIM:557000
Marshall-Smith Syndrome	Distal widening of metacarpals, Coxa vara, Anteriorly placed anus, Glossoptosis, High palate, Cer...	OMIM:602535
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Congenital hip dislocation, Bicuspid aortic valve, Ventricular septal defect, Pyloric stenosis, S...	ORPHA:457279
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Bicuspid aortic valve, Parachute mitral valve, Polyhydramnios, Atrial septal defect, Neonatal dea...	OMIM:265380
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Encephalocele, Optic nerve hypoplasia, Hydrocephalus, Microphthalmia, Adducted thumb	OMIM:614643
Loeys-Dietz Syndrome 5	Atrial septal defect, Scapular winging, Arachnodactyly, Ventricular septal defect, Cleft soft pal...	OMIM:615582
Holoprosencephaly 7	Bilateral cleft palate, Occipital meningocele, Alobar holoprosencephaly, Hydrocephalus, Bilateral...	OMIM:610828
Cornelia De Lange Syndrome 1	Single transverse palmar crease, Micromelia, Proximal placement of thumb, High, narrow palate, Hi...	OMIM:122470
Recombinant 8 Syndrome	Atrial septal defect, Ventricular septal defect, Camptodactyly of finger, Redundant skin, Patella...	ORPHA:96167
Alternating Hemiplegia Of Childhood	Cardiomyopathy, Pallor, Dehydration	ORPHA:2131
Atelis Syndrome 2	Single transverse palmar crease, Supravalvar pulmonary stenosis, High palate, Pulmonic stenosis, ...	OMIM:620185
Khan-Khan-Katsanis Syndrome	Tethered cord, Postaxial polydactyly, Buphthalmos, Intrauterine growth retardation, Clinodactyly,...	OMIM:618460
King-Denborough Syndrome	High palate, Ventricular septal defect	OMIM:619542
Helsmoortel-Van Der Aa Syndrome	Atrial septal defect, Broad hallux, Sandal gap, Tapered finger, High, narrow palate, Small hand, ...	OMIM:615873
Seckel Syndrome 9	Ventricular septal defect, Polyhydramnios, Talipes equinovarus, Atrial septal defect, Intrauterin...	OMIM:616777
Cardiofacioneurodevelopmental Syndrome	Ventricular septal defect, Cleft palate, Pulmonic stenosis, Camptodactyly, Clinodactyly of the 5t...	OMIM:619123
Joubert Syndrome 39	Occipital encephalocele, Hypoplastic left heart, Joint contracture of the 5th finger, Postaxial p...	OMIM:619562
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Toe syndactyly, Bilateral single transverse palmar creases, Ventricular septal defect, Dextrocard...	OMIM:619657
Stankiewicz-Isidor Syndrome	Ventricular septal defect, Absent thumb, Short thumb, 2-3 toe syndactyly, Truncus arteriosus	OMIM:617516
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome	Preaxial polydactyly	ORPHA:2921
Otodental Syndrome	Delayed eruption of teeth, Microphthalmia, Lens coloboma	ORPHA:2791
Chime Syndrome	Ventricular septal defect, Aplastic clavicle, Aplasia/Hypoplasia of the phalanges of the hand, Hi...	ORPHA:3474
Cardiac Valvular Dysplasia 1	Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, Edema, Valvular pulmonary...	OMIM:212093
Short Stature, Developmental Delay, And Congenital Heart Defects	Atrial septal defect, Patent foramen ovale, Ventricular septal defect	OMIM:617044
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type	Ventricular septal defect, Arachnodactyly, Talipes equinovarus, Camptodactyly, Atrial septal defect	OMIM:301039
Imerslund-Gräsbeck Syndrome	Glossitis, Pallor	ORPHA:35858
Exudative Vitreoretinopathy 2, X-Linked	Microphthalmia	OMIM:305390
Ventricular Septal Defect 3	Atrial septal defect, Ventricular septal defect	OMIM:614432
Sacral Defect With Anterior Meningocele	Myeloschisis, Tethered cord, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract, Bi...	OMIM:600145
Right Atrial Isomerism	Right atrial isomerism, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Complete...	OMIM:208530
Serkal Syndrome	Malrotation of small bowel, Ventricular septal defect, Pulmonic stenosis, Oligohydramnios	ORPHA:139466
Monosomy 13Q14	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Clinodactyly of the 5th finger, Microphthalmi...	ORPHA:1587
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Pallor	ORPHA:331206
3Mc Syndrome 1	Atrial septal defect, Ventricular septal defect, Single interphalangeal crease of fifth finger, C...	OMIM:257920
Pontocerebellar Hypoplasia, Type 17	Secundum atrial septal defect, Intrauterine growth retardation, Ventricular septal defect	OMIM:619909
Congenital Heart Defects, Multiple Types, 6	Ventricular septal defect, Secundum atrial septal defect, Complete atrioventricular canal defect,...	OMIM:613854
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Occipital encephalocele, Optic nerve hypoplasia, Meningoencephalocele, Hydrocephalus, Cleft palat...	OMIM:236670
Craniofacioskeletal Syndrome	Atrial septal defect, Ventricular septal defect, Small hand, Cleft palate, Short foot, Short palm...	OMIM:300712
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Hallux valgus, Ventricular septal defect, Abnormal pulmonary valve morphology, Cleft soft palate,...	ORPHA:268261
Meier-Gorlin Syndrome 7	2-4 finger syndactyly, Anal stenosis, Ventricular septal defect, Bowing of the legs, Aplasia/Hypo...	OMIM:617063
Van Esch-O'Driscoll Syndrome	Atrial septal defect, Ventricular septal defect, Esophageal atresia, Pulmonary valve atresia, Tra...	OMIM:301030
Non-Functioning Pituitary Adenoma	Pallor	ORPHA:91349
Congenital Alveolar Capillary Dysplasia	Bicuspid aortic valve, Ventricular septal defect, Aganglionic megacolon, Intestinal malrotation, ...	ORPHA:210122
Hajdu-Cheney Syndrome	Coarse metaphyseal trabecularization, Brachydactyly, Bowing of the long bones, Mitral stenosis, V...	ORPHA:955
Craniofacial Dyssynostosis With Short Stature	Pyloric stenosis, Hydrocephalus, Ventricular septal defect	OMIM:218350
Beck-Fahrner Syndrome	High palate, Hip dysplasia, Ventricular septal defect, Cardiomegaly	OMIM:618798
Peroxisome Biogenesis Disorder 1A (Zellweger)	Ulnar deviation of the hand, Ventricular septal defect, Single transverse palmar crease, Rocker b...	OMIM:214100
Double Outlet Right Ventricle	Ventricular septal defect, Intestinal malrotation, Submucous cleft hard palate, Double outlet rig...	ORPHA:3426
22Q11.2 Duplication Syndrome	Ventricular septal defect, Cleft palate, Hypoplastic left heart, Transposition of the great arter...	ORPHA:1727
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Pallor	ORPHA:300298
Donnai-Barrow Syndrome	Ventricular septal defect, Intestinal malrotation, Hypoplasia of the iris, Short sternum, Umbilic...	OMIM:222448
Warburg Micro Syndrome 4	Microphthalmia	OMIM:615663
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Ventricular septal defect, Coxa valga, Tapered finger, Protruding tongue, Macroglossia, Perimembr...	OMIM:301040
Simpson-Golabi-Behmel Syndrome, Type 1	Polyhydramnios, Narrow greater sciatic notch, Short palm, Atrial septal defect, Exaggerated media...	OMIM:312870
Fixed Subaortic Stenosis	Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm...	ORPHA:3092
Ogden Syndrome	Congenital hip dislocation, Bicuspid aortic valve, Redundant skin, Redundant neck skin, Cardiomeg...	OMIM:300855
Adnp Syndrome	Broad hallux, Single transverse palmar crease, Sandal gap, Abnormal toe morphology, Abnormal fing...	ORPHA:404448
Trichothiodystrophy	Ventricular septal defect, High, narrow palate, Bilateral microphthalmos, Clubbing, Cardiomyopath...	ORPHA:33364
Noonan Syndrome 4	Ventricular septal defect, Polyhydramnios, Pulmonic stenosis, Atrial septal defect, Cubitus valgu...	OMIM:610733
Adenohypophysitis	Pallor	ORPHA:95512
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Delayed eruption of teeth, Ventricular septal defect, Broad 2nd toe, Tetralogy of Fallot, Palmopl...	OMIM:280000
Vitreoretinochoroidopathy	Microphthalmia	OMIM:193220
Acrofrontofacionasal Dysostosis 1	Short metacarpal, Microphthalmia, Acetabular dysplasia, Broad thumb, Short distal phalanx of finger	OMIM:201180
Aregenerative Anemia	Pallor	ORPHA:101096
Marden-Walker Syndrome	Arachnodactyly, Camptodactyly of finger, Ventricular septal defect, Dextrocardia, Metatarsus addu...	ORPHA:2461
Robinow Syndrome, Autosomal Dominant 3	Syndactyly, Hypoplastic right heart, Ventricular septal defect, Patent foramen ovale, Cleft palat...	OMIM:616894
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Ventricular septal defect, Intestinal malrotation, Cleft palate, Atrial septal defect, Brachydactyly	ORPHA:457193
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Ventricular septal defect, Abnormal thumb morphology, Metatarsus adductus, Abnormal right ventric...	ORPHA:500095
16Q24.3 Microdeletion Syndrome	Ventricular septal defect, Optic nerve hypoplasia, Proximal placement of thumb, Dilated cardiomyo...	ORPHA:261250
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Pallor	OMIM:194380
Chromosome 15Q25 Deletion Syndrome	Ventricular septal defect, Dextrocardia, Long fingers, Cleft palate, Coronary artery fistula, Abn...	OMIM:614294
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Rocker bottom foot, Single transverse palmar crease, Postaxial polydactyly, Edema, Long fingers, ...	OMIM:617527
Dysosteosclerosis	Delayed eruption of teeth, Abnormal metaphysis morphology, Ventricular septal defect, Coarse meta...	ORPHA:1782
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Hyperextensibility of the finger joints, Ventricular septal defect, Arachnodactyly, High palate, ...	OMIM:309520
Momo Syndrome	Delayed eruption of teeth, Bilateral microphthalmos, Femoral bowing, Large hands, Short sternum, ...	ORPHA:2563
Panhypophysitis	Pallor	ORPHA:95513
Pontocerebellar Hypoplasia, Type 8	Ventricular septal defect, Patent foramen ovale, Talipes equinovarus	OMIM:614961
Oculopalatocerebral Syndrome	Microphthalmia	OMIM:257910
Microphthalmia, Isolated, With Coloboma 9	Microphthalmia	OMIM:615145
Wolf-Hirschhorn Syndrome	Single transverse palmar crease, Atrial septal defect, Intrauterine growth retardation, Tethered ...	OMIM:194190
16P13.11 Microdeletion Syndrome	Atrial septal defect, Ventricular septal defect, Camptodactyly of finger, Cleft palate, Talipes e...	ORPHA:261236
46,Xx Sex Reversal 5	Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect	OMIM:618901
Sheehan Syndrome	Dry skin, Pallor	ORPHA:91355
Bardet-Biedl Syndrome 12	Postaxial foot polydactyly, Postaxial hand polydactyly, Polydactyly	OMIM:615989
Rothmund-Thomson Syndrome, Type 2	Delayed eruption of teeth, Congenital hip dislocation, Short thumb, Small hand, Short foot, Anter...	OMIM:268400
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Pallor	OMIM:300908
Pituitary Apoplexy	Pallor	ORPHA:95613
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Atrial septal defect, Postaxial hand polydactyly, Redundant neck skin, Ventricular septal defect	ORPHA:2519
Biliary, Renal, Neurologic, And Skeletal Syndrome	Edema, Polyhydramnios, Secundum atrial septal defect, Aqueductal stenosis, Primum atrial septal d...	OMIM:619534
Robinow Syndrome	Syndactyly, Brachydactyly, Ventricular septal defect, Bifid distal phalanx of the thumb, Persiste...	ORPHA:97360
Orofaciodigital Syndrome Xiv	Occipital encephalocele, Natal tooth, Broad hallux, Ventricular septal defect, Hamartoma of tongu...	OMIM:615948
Thakker-Donnai Syndrome	Communicating hydrocephalus, Ventricular septal defect, Tracheoesophageal fistula, Rectovaginal f...	ORPHA:1780
Phelan-Mcdermid Syndrome	Ventricular septal defect, Palpebral edema, Lymphedema, 2-3 toe syndactyly, Large hands, High pal...	OMIM:606232
Coloboma, Ocular, Autosomal Dominant	Microphthalmia, Optic nerve aplasia	OMIM:120200
Simpson-Golabi-Behmel Syndrome	Finger syndactyly, Atrial septal defect, Congenital hip dislocation, Toe syndactyly, Camptodactyl...	ORPHA:373
Systemic Mastocytosis With Associated Hematologic Neoplasm	Pallor, Peptic ulcer	ORPHA:98849
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Ventricular septal defect, Erythema, High palate, Talipes equinovarus, Hand clenching, Intrauteri...	OMIM:614653
Pierson Syndrome	Rieger anomaly, Hypoplasia of the ciliary body, Edema, Hypoplasia of the iris, Macular hypoplasia...	OMIM:609049
Heterotaxy, Visceral, 4, Autosomal	Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit...	OMIM:613751
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects	Ventricular septal defect, Secundum atrial septal defect, Subvalvular aortic stenosis, Left ventr...	OMIM:108900
Histiocytosis-Lymphadenopathy Plus Syndrome	Hallux valgus, Ventricular septal defect, Rocker bottom foot, Camptodactyly of finger, Cardiomega...	OMIM:602782
Linear Skin Defects With Multiple Congenital Anomalies 3	Histiocytoid cardiomyopathy, Microphthalmia, Dilated cardiomyopathy, Delayed eruption of primary ...	OMIM:300952
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Buphthalmos, Microphthalmia, Hypoplasia of the retina, Pallor	OMIM:253280
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Hip contracture, Ventricular septal defect, Tarsal synostosis, Elbow flexion contracture, Cleft p...	OMIM:178110
Meacham Syndrome	Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Partial anomalous pulmonary venou...	OMIM:608978
Trichothiodystrophy 1, Photosensitive	Microphthalmia, Intestinal obstruction, Dry skin, Malabsorption	OMIM:601675
Teebi Hypertelorism Syndrome 1	Natal tooth, Ventricular septal defect, Small hand, Broad palm, Atrial septal defect	OMIM:145420
Renpenning Syndrome 1	Atrial septal defect, Ventricular septal defect, Situs inversus totalis, Tetralogy of Fallot, Cle...	OMIM:309500
Retinitis Pigmentosa And Erythrocytic Microcytosis	Pallor	OMIM:616959
Tbck-Related Intellectual Disability Syndrome	Broad toe, Ventricular septal defect, High, narrow palate, 2-3 toe syndactyly, Macroglossia, Broa...	ORPHA:488632
Alg9-Cdg	Villous atrophy, Ulnar deviation of the hand, Rhizomelia, Ventricular septal defect, Pericardial ...	ORPHA:79328
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Broad hallux, 1-2 toe syndactyly, Ventricular septal defect, Tapered finger, Partial anomalous pu...	OMIM:301044
Prolactinoma	Pallor	ORPHA:2965
Structural Heart Defects And Renal Anomalies Syndrome	Overlapping toe, Ventricular septal defect, Partial anomalous pulmonary venous return, Atrial sep...	OMIM:617478
15Q14 Microdeletion Syndrome	Atrial septal defect, Ventricular septal defect, Cleft palate	ORPHA:261190
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Buphthalmos, Microphthalmia	OMIM:616538
Cockayne Syndrome B	Delayed eruption of primary teeth, Ivory epiphyses of the phalanges of the hand, Hypoplasia of th...	OMIM:133540
Cerebellofaciodental Syndrome	Ventricular septal defect, Single transverse palmar crease, Tapered finger, Shortening of all dis...	OMIM:616202
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Tapered finger, Small hand, Hip dysplasia, Atrial septal defect, Microphthalmia, Patent foramen o...	OMIM:620005
Paternal Uniparental Disomy Of Chromosome 6	Ventricular septal defect, Cardiomegaly, Oligohydramnios, Dehydration, Macroglossia, High palate,...	ORPHA:96191
Holoprosencephaly 13, X-Linked	Septo-optic dysplasia, Ventricular septal defect, Optic nerve hypoplasia, Alobar holoprosencephal...	OMIM:301043
Townes-Brocks Syndrome	Broad hallux phalanx, Atrial septal defect, Toe syndactyly, Rectoperineal fistula, Abnormal pulmo...	ORPHA:857
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Pericardial effusion, Intrauterine growth retardation, Hypertrophic cardiomyopathy, Ventricular s...	OMIM:618775
Fraser Syndrome 2	Microphthalmia, Oligohydramnios, Cutaneous syndactyly	OMIM:617666
Ulnar-Mammary Syndrome	Deformed radius, Aplasia of the 3rd metacarpal, Aplasia of the 4th metacarpal, Aplasia of the 4th...	OMIM:181450
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Intrauterine growth retardation, Ventricular septal defect, Cleft palate, Oligohydramnios	OMIM:611812
Trichohepatoneurodevelopmental Syndrome	Overlapping toe, Ventricular septal defect, Polyhydramnios, Hip dislocation, Short foot, Macroglo...	OMIM:618268
Peroxisome Biogenesis Disorder 5A (Zellweger)	Ventricular septal defect, Single transverse palmar crease, Palpebral edema, Metatarsus adductus,...	OMIM:614866
Tetrasomy 9P	Pericarditis, Hypoplastic scapulae, Abnormal mitral valve morphology, Dextrocardia, Median cleft ...	ORPHA:3310
Cardiac Diverticulum	Bicuspid aortic valve, Mitral stenosis, Left ventricular hypertrophy, Ventricular septal defect, ...	ORPHA:1686
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Long toe, Hyperextensibility of the finger joints, Ventricular septal defect, Rocker bottom foot,...	ORPHA:163979
Coffin-Siris Syndrome 4	Ventricular septal defect, Mitral atresia, Cleft palate, Prominent interphalangeal joints, Macrog...	OMIM:614609
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Broad hallux, Arachnodactyly, Cubitus valgus, High palate, Short finger, Microphthalmia, Bifid uvula	OMIM:601552
Norrie Disease	Hypoplasia of the iris, Microphthalmia, Buphthalmos	OMIM:310600
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature	Ventricular septal defect, Pedal edema	OMIM:126320
Yunis-Varon Syndrome	Congenital hip dislocation, Redundant neck skin, Single transverse palmar crease, Polyhydramnios,...	OMIM:216340
Aortic Valve Disease 1	Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou...	OMIM:109730
Smith-Lemli-Opitz Syndrome	Micromelia, Proximal placement of thumb, 2-3 toe cutaneous syndactyly, Holoprosencephaly, Atrial ...	OMIM:270400
Distal Duplication 5Q	Hypoplasia of the ulna, Ventricular septal defect, Dextrocardia, Absent thumb, Hypoplasia of the ...	ORPHA:96097
Keutel Syndrome	Ventricular septal defect, Short distal phalanx of finger	ORPHA:85202
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Ventricular septal defect, Optic nerve hypoplasia, Polyhydramnios, High palate, Pulmonic stenosis...	OMIM:617506
Neuroocular Syndrome	Hypoplasia of the fovea, Hyperextensibility of the finger joints, Scapular winging, Tapered finge...	OMIM:619539
Witteveen-Kolk Syndrome	Branchial fistula, Toe syndactyly, Overlapping toe, Arachnodactyly, Proximal placement of thumb, ...	OMIM:613406
Distal 22Q11.2 Microduplication Syndrome	Branchial fistula, Toe syndactyly, Ventricular septal defect, Camptodactyly of finger, Palpebral ...	ORPHA:261337
Papillorenal Syndrome	Microphthalmia, Edema	OMIM:120330
Cornelia De Lange Syndrome	Micromelia, Proximal placement of thumb, High palate, Atrial septal defect, Clinodactyly of the 5...	ORPHA:199
Aicardi Syndrome	Proximal placement of thumb, Spina bifida, Hiatus hernia, Cleft palate, Microphthalmia	OMIM:304050
Trichohepatoenteric Syndrome 1	Villous atrophy, Ventricular septal defect, Polyhydramnios, Avascular necrosis of the capital fem...	OMIM:222470
Phace Association	Microphthalmia, Ventricular septal defect, Optic nerve hypoplasia	OMIM:606519
X-Linked Intellectual Disability, Nascimento Type	Overlapping toe, Ventricular septal defect, Double outlet right ventricle, Clubbing of toes, Dry ...	ORPHA:163956
Feingold Syndrome 1	Ventricular septal defect, Tricuspid stenosis, Jejunal atresia, Polyhydramnios, Short thumb, Shor...	OMIM:164280
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Palmoplantar keratoderma, Ventricular septal defect, 2-3 toe syndactyly, Cleft palate	OMIM:106260
Heart Defects, Congenital, And Other Congenital Anomalies	Double outlet left ventricle, Ventricular septal defect, Intestinal malrotation, Colon perforatio...	OMIM:600001
Mullegama-Klein-Martinez Syndrome	Cleft palate, Submucous cleft of soft and hard palate, Hypoplastic left heart, Polydactyly, Apica...	OMIM:301022
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Ventricular septal defect, Polyhydramnios, Tapered finger, Short toe, Oligohydramnios, Short foot...	ORPHA:464311
Cerebrocostomandibular Syndrome	Short humerus, Atrial septal defect, Congenital hip dislocation, Calcaneal epiphyseal stippling, ...	OMIM:117650
Von Hippel-Lindau Disease	Myocarditis, Cardiomyopathy, Pallor, Macular edema	ORPHA:892
Ciliary Dyskinesia, Primary, 30	Situs inversus totalis, Ventricular septal defect, Dextrocardia	OMIM:616037
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Natal tooth, Ventricular septal defect	OMIM:616901
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Unilateral cleft palate, Submucous cleft hard palate, Ventricular septal defect, Dysplastic pulmo...	OMIM:619103
Diamond-Blackfan Anemia 12	Ventricular septal defect, Triphalangeal thumb	OMIM:615550
Oculocerebrorenal Syndrome Of Lowe	Delayed eruption of teeth, Malabsorption, Hip dislocation, Narrow palate, Genu valgum, Buphthalmo...	ORPHA:534
Cardiac-Urogenital Syndrome	Cor triatrium sinister, Ventricular septal defect, Dextrocardia, Coronary sinus enlargement, Inte...	OMIM:618280
Chromosome 16P13.3 Duplication Syndrome	Sandal gap, Rocker bottom foot, Proximal placement of thumb, Tapered finger, Ventricular septal d...	OMIM:613458
Femoral-Facial Syndrome	Short third metatarsal, Short humerus, Short fourth metatarsal, Toe syndactyly, Short fifth metat...	OMIM:134780
Noonan Syndrome 1	Ventricular septal defect, Lymphedema, High, narrow palate, Cleft palate, Hypertrophic cardiomyop...	OMIM:163950
Hallermann-Streiff Syndrome	Natal tooth, High, narrow palate, Small hand, Short foot, Glossoptosis, Clinodactyly of the 5th f...	ORPHA:2108
Zellweger Syndrome	Ventricular septal defect, Malabsorption, Pyloric stenosis, Epiphyseal stippling, High palate	ORPHA:912
Beaulieu-Boycott-Innes Syndrome	Velopharyngeal insufficiency, Ventricular septal defect	OMIM:613680
Velocardiofacial Syndrome	Ventricular septal defect, Abnormality of the hand, Velopharyngeal insufficiency, Submucous cleft...	OMIM:192430
Spinal Arteriovenous Metameric Syndrome	Abnormal spinal cord morphology, Spinal arteriovenous malformation	ORPHA:53721
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Hip dysplasia, Ventricular septal defect, Right ventricular hypertrophy	OMIM:613404
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Double outlet left ventricle, Ventricular septal defect, Intestinal malrotation, Patent foramen o...	ORPHA:2255
Congenital Total Pulmonary Venous Return Anomaly	Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Cardiomegaly, Su...	ORPHA:99125
Kaufman Oculocerebrofacial Syndrome	Atrial septal defect, Congenital hip dislocation, Long palm, Single transverse palmar crease, Ven...	OMIM:244450
Coffin-Siris Syndrome 1	Single transverse palmar crease, Prominent interphalangeal joints, High palate, Atrial septal def...	OMIM:135900
Myopathy With Extrapyramidal Signs	Ventricular septal defect	OMIM:615673
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Metaphyseal dysplasia, Short metacarpal, Ventricular septal defect, Metaphyseal chondrodysplasia,...	OMIM:250410
Kleefstra Syndrome	Delayed eruption of teeth, Ventricular septal defect, Bicuspid aortic valve, Pyloric stenosis, Ma...	ORPHA:261494
Arboleda-Tham Syndrome	Brachydactyly, Sandal gap, Deviation of the hallux, Short hallux, Ventricular septal defect, Secu...	OMIM:616268
Hajdu-Cheney Syndrome	Ventricular septal defect, Intestinal malrotation, Hydrocephalus, Foot acroosteolysis, Osteolytic...	OMIM:102500
Monosomy 9P	Proximal placement of thumb, Abnormality of the tarsal bones, Postaxial hand polydactyly, Cleft p...	ORPHA:261112
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome	High palate, Ventricular septal defect, Cleft palate	ORPHA:52055
Congenital Disorder Of Glycosylation, Type Iia	Ventricular septal defect, Proximal placement of thumb, Protruding tongue, Coxa valga, Slender lo...	OMIM:212066
15Q11.2 Microdeletion Syndrome	Ventricular septal defect, Abnormal heart morphology, Total anomalous pulmonary venous return, At...	ORPHA:261183
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Ventricular septal defect, Pericardial effusion, Dilated cardiomyopathy, Anteriorly placed anus, ...	ORPHA:26793
Tsh-Secreting Pituitary Adenoma	Pericardial effusion, Pallor	ORPHA:91347
Kinsship Syndrome	Single transverse palmar crease, Coxa valga, Hip dislocation, Fibular hypoplasia, Polydactyly, Me...	OMIM:619297
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Abnormal spinal cord morphology, Flexion contracture of finger, Camptodactyly	ORPHA:88628
Oculoauricular Syndrome	Phthisis bulbi, Macular hypoplasia, Microphakia, Microphthalmia, Spina bifida occulta	OMIM:612109
Congenitally Corrected Transposition Of The Great Arteries	Atrial situs ambiguous, Abnormal left ventricular outflow tract morphology, Abnormal tricuspid va...	ORPHA:216694
Opitz Gbbb Syndrome	Ventricular septal defect, Rectourethral fistula, Cleft palate, High palate, Umbilical hernia, An...	OMIM:300000
Persistent Hyperplastic Primary Vitreous	Buphthalmos, Microphthalmia, Phthisis bulbi, Macular hypoplasia	ORPHA:91495
Kenny-Caffey Syndrome, Type 2	Microphthalmia, Thickened cortex of long bones, Abnormality of the medullary cavity of the long b...	OMIM:127000
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Ventricular septal defect, Dry skin, Optic disc hypoplasia	OMIM:619306
Bardet-Biedl Syndrome 20	Postaxial polydactyly, Postaxial hand polydactyly, 2-3 toe syndactyly, Atrial septal defect, Prea...	OMIM:619471
X-Linked Lissencephaly With Abnormal Genitalia	Aganglionic megacolon, Ventricular septal defect, Malabsorption	ORPHA:452
Scimitar Syndrome	Ventricular septal defect, Dextrocardia, Mitral atresia, Partial anomalous pulmonary venous retur...	ORPHA:185
Noonan Syndrome 3	Ventricular septal defect, Polyhydramnios, Mitral valve prolapse, High palate, Pulmonic stenosis,...	OMIM:609942
Noonan Syndrome 9	Ventricular septal defect, Pulmonic stenosis	OMIM:616559
Skin Creases, Congenital Symmetric Circumferential, 2	Tapered finger, Long fingers, 2-3 toe syndactyly, Short palm, Clinodactyly of the 5th finger, Mic...	OMIM:616734
Opitz Gbbb Syndrome	Natal tooth, Ventricular septal defect, Tracheoesophageal fistula, Cleft palate, Abnormal heart m...	ORPHA:2745
Atrial Septal Defect 1	Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec...	OMIM:108800
Developmental Delay With Or Without Dysmorphic Facies And Autism	Ventricular septal defect, 2-3 toe cutaneous syndactyly, Cleft palate, Short foot, Clinodactyly o...	OMIM:618454
Criss-Cross Heart	Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten...	ORPHA:1461
Syndromic Diarrhea	Villous atrophy, Bicuspid aortic valve, Ventricular septal defect, Gastritis, Dry skin, Abnormal ...	ORPHA:84064
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	2-5 finger syndactyly, Camptodactyly of finger, Optic nerve hypoplasia, 4-5 finger syndactyly, Bi...	ORPHA:468631
Omodysplasia 1	Short humerus, Rhizomelia, Increased fibular diameter, Ventricular septal defect, Short tibia, Fi...	OMIM:258315
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Natal tooth, Broad hallux, Bicuspid aortic valve, Ventricular septal defect, Intestinal malrotati...	ORPHA:353281
Tetraamelia Syndrome 2	Glossoptosis, Ankyloglossia, Ventricular septal defect, Cleft palate	OMIM:618021
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Buphthalmos, Microphthalmia, Phthisis bulbi	OMIM:221900
Neurocardiofaciodigital Syndrome	Syndactyly, Double inlet left ventricle, Polydactyly, High palate, Atrial septal defect, Tetralog...	OMIM:619869
Aicardi Syndrome	Intestinal polyposis, Hiatus hernia, Malabsorption, Small hand, Cleft palate, Hip dysplasia, Micr...	ORPHA:50
Osteoporosis-Pseudoglioma Syndrome	Ventricular septal defect, Metaphyseal widening, Phthisis bulbi, Tibial bowing, Microphthalmia	OMIM:259770
Truncus Arteriosus	Pulmonary edema, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Abnorm...	ORPHA:3384
Chops Syndrome	Ventricular septal defect, High, narrow palate, Anomalous pulmonary venous return, Patent foramen...	OMIM:616368
Autosomal Dominant Kenny-Caffey Syndrome	Stenosis of the medullary cavity of the long bones, Persistence of primary teeth, Bilateral micro...	ORPHA:93325
Multiple Endocrine Neoplasia Type 2	Abnormal tongue morphology, Aganglionic megacolon, Pallor, Ganglioneuromatosis	ORPHA:653
Diaphragmatic Hernia 4, With Cardiovascular Defects	Finger syndactyly, Ventricular septal defect, Optic nerve hypoplasia, Polyhydramnios, 2-3 toe syn...	OMIM:620025
Heterotaxy, Visceral, 5, Autosomal	Right atrial isomerism, Ventricular septal defect, Dextrocardia, Intestinal malrotation, Partial ...	OMIM:270100
Lissencephaly 9 With Complex Brainstem Malformation	Ventricular septal defect	OMIM:618325
Costello Syndrome	Hyperextensibility of the finger joints, Redundant neck skin, Ventricular septal defect, Limited ...	OMIM:218040
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Short humerus, Short femur, Polydactyly, Hypertrophic cardiomyopathy, Patent foramen ovale	ORPHA:17
Neurodevelopmental Disorder With Language Delay And Seizures	Ventricular septal defect	OMIM:619908
Xeroderma Pigmentosum, Complementation Group B	Microphthalmia	OMIM:610651
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Postaxial polydactyly, Polyhydramnios, Postaxial hand polydactyly, Aplasia of the epiglottis, Con...	OMIM:617088
Holoprosencephaly 2	Median cleft lip and palate, Alobar holoprosencephaly, Submucous cleft hard palate, Bilateral cle...	OMIM:157170
Coffin-Siris Syndrome	Delayed eruption of teeth, Ventricular septal defect, Abnormal heart morphology, Short 5th finger...	ORPHA:1465
Blepharophimosis, Ptosis, And Epicanthus Inversus	Microphthalmia, High palate	OMIM:110100
Choanal Atresia	Polydactyly	ORPHA:137914
Koolen-De Vries Syndrome Due To A Point Mutation	Hand muscle atrophy, Atrial septal defect, Anomaly of lower limb diaphyses, Arachnodactyly, Bicus...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Hand muscle atrophy, Atrial septal defect, Anomaly of lower limb diaphyses, Arachnodactyly, Bicus...	ORPHA:363958
Specc1L-Related Hypertelorism Syndrome	Finger syndactyly, Atrial septal defect, Ventricular septal defect, Short toe, Advanced eruption ...	ORPHA:1519
Intellectual Developmental Disorder, Autosomal Dominant 53	Short femur, Ventricular septal defect, Intestinal malrotation, Genu valgum, Duodenal atresia	OMIM:617798
Xeroderma Pigmentosum, Complementation Group D	Microphthalmia	OMIM:278730
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	High palate, Ventricular septal defect, Bifid uvula	OMIM:300472
Peters-Plus Syndrome	Single transverse palmar crease, Limited elbow movement, Proximal placement of thumb, Polyhydramn...	OMIM:261540
Chromosome 14Q11-Q22 Deletion Syndrome	Ventricular septal defect, Macroglossia, High palate, Mesomelia, Patent foramen ovale, Hip sublux...	OMIM:613457
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Ventricular septal defect, Polyhydramnios, Deep palmar crease, High palate, Pulmonic stenosis, At...	OMIM:607721
Goldberg-Shprintzen Syndrome	Ventricular septal defect, Aganglionic megacolon, Tapered finger, Increased femoral anteversion, ...	OMIM:609460
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Broad hallux, Optic nerve hypoplasia, Postaxial polydactyly, Hip dysplasia, Clinodactyly of the 5...	ORPHA:457284
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Delayed eruption of teeth, Finger syndactyly, Ventricular septal defect, Submucous cleft soft pal...	ORPHA:1071
X-Linked Cerebral Adrenoleukodystrophy	Myelopathy, Abnormal spinal cord morphology	ORPHA:139396
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Hyperextensibility of the finger joints, Internally rotated shoulders, Single transverse palmar c...	OMIM:619503
Congenital Disorder Of Glycosylation, Type It	Ventricular septal defect, Cardiomegaly, Dilated cardiomyopathy, Cleft palate, Bifid uvula	OMIM:614921
Mgat2-Cdg	Abnormal heart morphology, Ventricular septal defect, Hydrops fetalis, Brachydactyly	ORPHA:79329
Viss Syndrome	Chronic gastritis, Polyhydramnios, High, narrow palate, Right ventricular dilatation, High palate...	OMIM:619472
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome...	OMIM:620066
Frontofacionasal Dysplasia	Cranium bifidum occultum, Microphthalmia, Bifid uvula	OMIM:229400
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Atrial septal defect, Ventricular septal defect, Camptodactyly of finger, Polyhydramnios, Submuco...	ORPHA:3047
Acute Disseminated Encephalomyelitis	Abnormal spinal cord morphology, Cerebral edema, Myelitis	ORPHA:83597
Phace Syndrome	Optic nerve hypoplasia, Lens coloboma, Abnormal heart morphology, Abnormal cardiac septum morphol...	ORPHA:42775
Heterotaxy, Visceral, 8, Autosomal	Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Hypoplast...	OMIM:617205
Hypoplastic Left Heart Syndrome 2	Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia	OMIM:614435
Heterotaxy, Visceral, 12, Autosomal	Ventricular septal defect, Dextrocardia, Situs inversus totalis, Common atrium, Complete atrioven...	OMIM:619702
7Q11.23 Microduplication Syndrome	Ventricular septal defect, Single transverse palmar crease, Long fingers, Hydrocephalus, High pal...	ORPHA:96121
Craniotubular Dysplasia, Ikegawa Type	Metaphyseal dysplasia, Ventricular septal defect, Phthisis bulbi, Broad ischia, Diaphyseal dyspla...	OMIM:619727
Fanconi Anemia, Complementation Group N	Short thumb, Ventricular septal defect	OMIM:610832
Thauvin-Robinet-Faivre Syndrome	Ventricular septal defect, Bowing of the legs, Pedal edema, Mitral valve prolapse, Macroglossia, ...	OMIM:617107
Transketolase Deficiency	Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Abnormal heart morphology	ORPHA:488618
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Atrial septal defect, Coronary artery fistula, Ventricular septal defect, Neonatal death	OMIM:620024
Cntnap2-Related Developmental And Epileptic Encephalopathy	Preaxial polydactyly	ORPHA:163681
Holoprosencephaly 14	Ventricular septal defect, Alobar holoprosencephaly, Aqueductal stenosis, Hydrocephalus, Aortic v...	OMIM:619895
Aortic Arch Interruption	Bicuspid aortic valve, Ventricular septal defect, Aortic valve atresia, Double outlet right ventr...	ORPHA:2299
Floating-Harbor Syndrome	Hypospadias, Precocious puberty, Cryptorchidism, Stage 5 chronic kidney disease, Renal cyst, Neph...	ORPHA:2044
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Left ventricular hypertrophy, Ventricular septal defect, Patent foramen ovale, Biventricular hype...	OMIM:615474
Orofaciodigital Syndrome Type 14	Broad hallux, Deviation of the hallux, Ventricular septal defect, Hamartoma of tongue, Postaxial ...	ORPHA:434179
Congenital Tracheomalacia	Ventricular septal defect, Cardiomegaly, Esophageal atresia, Partial anomalous pulmonary venous r...	ORPHA:95430
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Broad toe, Atrial septal defect, Tethered cord, Ventricular septal defect, Single transverse palm...	OMIM:619522
Renal Agenesis	Ventricular septal defect, Talipes equinovarus, Anal atresia, Oligohydramnios	ORPHA:411709
Combined Immunodeficiency-Enteropathy Spectrum	Ventricular septal defect, Intestinal malrotation, Polyhydramnios, Jejunoileal ulceration, Rectal...	ORPHA:436252
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Atrial septal defect, Ventricular septal defect	OMIM:610978
Floating-Harbor Syndrome	Hypospadias, Cryptorchidism, Glandular hypospadias, Nephrocalcinosis, Hydronephrosis, Congenital ...	OMIM:136140
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Ventricular hypertrophy, Ventricular septal defect	ORPHA:369929
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Hallux valgus, Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Submucou...	OMIM:300967
Williams Syndrome	Bicuspid aortic valve, Redundant skin, Cardiomegaly, Periorbital edema, Rectal prolapse, Atrial s...	ORPHA:904
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Bicuspid aortic valve, Cleft hard palate, Calcaneovalgus deformity, Bifid uvula, Long hallux, Lon...	ORPHA:261537
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Hallux valgus, Congenital hip dislocation, Overlapping toe, Postaxial polydactyly, Tapered finger...	ORPHA:480880
Leigh Syndrome	Intrauterine growth retardation, Hypertrophic cardiomyopathy, Ventricular septal defect	ORPHA:506
Early Infantile Epileptic Encephalopathy	Ventricular septal defect, Cleft palate, Short finger, Broad finger, Umbilical hernia, Broad phal...	ORPHA:1934
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Ventricular septal defect, Split hand, Clubbing, Cleft palate, Tetralogy of Fallot	OMIM:600460
Pallister-Killian Syndrome	Congenital hip dislocation, Edema of the dorsum of feet, Single transverse palmar crease, Polyhyd...	OMIM:601803
Chromosome 1P36 Deletion Syndrome, Distal	Bicuspid aortic valve, High palate, Atrial septal defect, Clinodactyly of the 5th finger, Patent ...	OMIM:607872
Diets-Jongmans Syndrome	Ventricular septal defect, Polyhydramnios, Hip dysplasia, Umbilical hernia, Duodenal atresia	OMIM:618846
Zttk Syndrome	Ventricular septal defect, Submucous cleft hard palate, Small hand, Short foot, High palate, Atri...	OMIM:617140
Tetraamelia Syndrome 1	Hydrocephalus, Cleft palate, Hypoplastic pelvis, Microphthalmia, Anal atresia	OMIM:273395
Retinitis Pigmentosa 74	Polydactyly	OMIM:616562
Meacham Syndrome	Ventricular septal defect, Situs inversus totalis, Anomalous pulmonary venous return, Conotruncal...	ORPHA:3097
Genitopatellar Syndrome	Delayed eruption of teeth, Hip contracture, Anal stenosis, Congenital hip dislocation, Ventricula...	OMIM:606170
Legius Syndrome	Mitral valve prolapse, Diaphyseal dysplasia, Polydactyly, Pulmonic stenosis, Clinodactyly of the ...	ORPHA:137605
Autosomal Dominant Coarctation Of Aorta	Hypoplastic left heart, Ventricular septal defect	ORPHA:1455
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Bicuspid aortic valve, Cleft hard palate, Calcaneovalgus deformity, Bifid uvula, Long hallux, Lon...	ORPHA:261552
Lacrimoauriculodentodigital Syndrome 1	Hypoplasia of the ulna, Broad hallux, Absence of Stensen duct, Delayed eruption of primary teeth,...	OMIM:149730
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Ventricular septal defect, Small hand, Fibular hypoplasia, Abnormal heart morphology, Hypoplasia ...	ORPHA:444077
Mowat-Wilson Syndrome	Bicuspid aortic valve, Cleft hard palate, Calcaneovalgus deformity, Bifid uvula, Long toe, Syndac...	ORPHA:2152
Linear Nevus Sebaceus Syndrome	Microphthalmia	ORPHA:2612
Mowat-Wilson Syndrome	Delayed eruption of teeth, Ventricular septal defect, Aganglionic megacolon, Pyloric stenosis, Su...	OMIM:235730
Culler-Jones Syndrome	Cleft palate, Postaxial polydactyly	OMIM:615849
Combined Oxidative Phosphorylation Deficiency 15	Ventricular septal defect, Small hand, Single transverse palmar crease, Ventricular septal hypert...	OMIM:614947
Amoebiasis Due To Free-Living Amoebae	Myocardial necrosis, Abnormal spinal cord morphology, Cerebral edema, Skin ulcer	ORPHA:68
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Bicuspid aortic valve, Single transverse palmar crease, Ventricular septal defect, Palpebral edem...	OMIM:619475
Cerebellar-Facial-Dental Syndrome	Ventricular septal defect, Single transverse palmar crease, Tapered finger, Mitral valve prolapse...	ORPHA:444072
Congenital Tracheal Stenosis	Ventricular septal defect, Polyhydramnios, Abnormal stomach morphology, Fetal ascites, Tracheoeso...	ORPHA:141127
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Ventricular septal defect, Abnormal tibia morphology, Hydrocephalus, Genu valgum, Abnormal heart ...	ORPHA:363700
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Sandal gap, Optic nerve hypoplasia, Ventricular septal defect, Long fingers, Cutaneous syndactyly...	OMIM:620330
Lowe Oculocerebrorenal Syndrome	Camptodactyly of finger, Wrist swelling, Hip dislocation, Genu valgum, Finger swelling, Microphth...	OMIM:309000
Diamond-Blackfan Anemia 5	Ventricular septal defect	OMIM:612528
Brain-Lung-Thyroid Syndrome	Atrial septal defect, Ventricular septal defect, Abnormal cardiac septum morphology, Patent foram...	ORPHA:209905
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome	Atrial septal defect, Toe syndactyly, Ventricular septal defect, Single transverse palmar crease,...	ORPHA:459070
Faciocardiomelic Syndrome	Slender long bone, Common atrium, Polydactyly, Hypoplastic pelvis	OMIM:612731
Eisenmenger Syndrome	Ventricular septal defect, Clubbing, Pedal edema, Aortopulmonary window, Abnormal heart morpholog...	ORPHA:97214
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Ventricular septal defect, Metatarsus adductus, Osteopathia striata, Increased axial length of th...	ORPHA:513456
Adrenomyeloneuropathy	Dorsal column degeneration, Atrophy of the spinal cord, Abnormal spinal cord morphology	ORPHA:139399
Treacher Collins Syndrome 1	Cleft soft palate, Bilateral microphthalmos, Cleft palate, Abnormal heart morphology, Abnormal pa...	OMIM:154500
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Hallux valgus, Atrial septal defect, Ventricular septal defect, High, narrow palate, Abnormal lef...	ORPHA:466791
Cockayne Syndrome	Microphthalmia, Premature skin wrinkling, Abnormal epiphysis morphology, Delayed eruption of prim...	ORPHA:191
Hardikar Syndrome	Ventricular septal defect, Cleft soft palate, Intestinal malrotation, Celiac disease, Partial ano...	OMIM:301068
Cardiospondylocarpofacial Syndrome	Atrial septal defect, Ventricular septal defect, Tarsal synostosis, Muscular ventricular septal d...	OMIM:157800
Diamond-Blackfan Anemia 10	Ventricular septal defect, Cleft palate	OMIM:613309
Bosma Arhinia Microphthalmia Syndrome	Microphthalmia, High palate, Cleft palate	OMIM:603457
Cockayne Syndrome Type 3	Microphthalmia, Cardiomyopathy	ORPHA:90324
Liver Disease, Severe Congenital	Chronic gastritis, Dermal translucency, Pulmonary edema, Ventricular septal defect, Left atrial e...	OMIM:619991
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	High, narrow palate, Hydrocephalus, Ventricular septal defect	OMIM:619575
Kabuki Syndrome 1	Atrial septal defect, Anal stenosis, Congenital hip dislocation, Ventricular septal defect, Intes...	OMIM:147920
Penile Agenesis	Ventricular septal defect, Rectal fistula, Atrophy of the spinal cord, Tracheoesophageal fistula,...	ORPHA:49
Double Outlet Left Ventricle	Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, ...	ORPHA:3427
Laubry-Pezzi Syndrome	Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Abnormal aortic valve cu...	ORPHA:99094
Combined Pituitary Hormone Deficiencies, Genetic Forms	Septo-optic dysplasia, Optic nerve hypoplasia, Polydactyly, Holoprosencephaly, Abnormal digit mor...	ORPHA:95494
Williams-Beuren Syndrome	Hallux valgus, Atrial septal defect, Colonic diverticula, Bicuspid aortic valve, Down-sloping sho...	OMIM:194050
Cutis Laxa, Autosomal Dominant 1	Ventricular septal defect, Redundant skin, Cutis laxa	OMIM:123700
Orotic Aciduria	Atrial septal defect, Ventricular septal defect	OMIM:258900
Primary Sjögren Syndrome	Abnormal spinal cord morphology, Xerostomia, Skin ulcer, Dry skin, Parotitis, Purpura	ORPHA:289390
Johanson-Blizzard Syndrome	Colonic diverticula, Atrial septal defect, Ventricular septal defect, Single transverse palmar cr...	OMIM:243800
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Atrophy of the spinal cord, Hydrocephalus, Dilated cardiomyopathy, Hydrops fetalis, Dehydration, ...	ORPHA:79282
Keutel Syndrome	Ventricular septal defect, Short hallux, Premature fusion of phalangeal epiphyses, Short thumb, S...	OMIM:245150
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	High palate, Ventricular septal defect	OMIM:619418
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities	Rectoperineal fistula, Ventricular septal defect, Anteriorly placed anus, Hypoplastic left heart,...	OMIM:618748
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Ventricular septal defect, Overlapping toe, Intestinal malrotation, Hiatus hernia, Clinodactyly o...	OMIM:616682
Superficial Siderosis	Atrophy of the spinal cord, Abnormal spinal cord morphology	ORPHA:247245
Alzahrani-Kuwahara Syndrome	Ventricular septal defect, Coronary sinus enlargement, Atrial septal defect, Dry skin, Patent for...	OMIM:619268
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Ventricular septal defect, Aortopulmonary window, Hypoplastic left heart, Transposition of the gr...	ORPHA:99050
Ciliary Dyskinesia, Primary, 20	Atrial situs inversus, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Double ou...	OMIM:615067
Right Pulmonary Artery, Anomalous Origin Of, Familial	Patent foramen ovale, Ventricular septal defect	OMIM:610338
Sotos Syndrome	Hip contracture, Ventricular septal defect, Aganglionic megacolon, No permanent dentition, Bilate...	ORPHA:821
Alagille Syndrome 1	Hypoplasia of the ulna, Ventricular septal defect, Atrial septal defect, Tetralogy of Fallot, Sho...	OMIM:118450
Goodpasture Syndrome	Pallor	OMIM:233450
Digeorge Syndrome	Ventricular septal defect, High, narrow palate, Cleft palate, High palate, Umbilical hernia, Trun...	OMIM:188400
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Hip dysplasia, Pulmo...	ORPHA:438213
Norrie Disease	Hypoplasia of the iris, Microphthalmia, Aplasia/Hypoplasia of the lens	ORPHA:649
Congenital Disorder Of Glycosylation, Type Iiw	Tetralogy of Fallot, Ventricular septal defect, Ankyloglossia	OMIM:619525
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Hypoplasia of the iris, Microphthalmia, Hydrocephalus	OMIM:175780
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Cystathioninuria, Homocystinuria	OMIM:277400

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 Mmachc

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 Mmachc.

There are 3 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Sexual Dimorphism of the Mouse Plasma Metabolome Is Associated with Phenotypes of 30 Gene Knockout Lines.	Metabolites (August 2023)	Mmachc^{tm1.1(NCOM)Mfgc}	PMC10456929
Proteotyping of knockout mouse strains reveals sex- and strain-specific signatures in blood plasma.	NPJ systems biology and applications (May 2021)	Mmachc^{tm1.1(NCOM)Mfgc}	PMC8163790
Mouse models to study the pathophysiology of combined methylmalonic acidemia and homocystinuria, cblC type.	Developmental biology (September 2020)	Mmachc^{tm1.1(NCOM)Mfgc}	32941884

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

MGI Allele	Allele Type	Produced
Mmachc^{tm299933(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Mmachc^{tm1(NCOM)Mfgc}	Reporter-tagged deletion allele (with selection cassette)	Mice, Targeting vectors, ES Cells
Mmachc^{tm1.1(NCOM)Mfgc}	Reporter-tagged deletion allele (post Cre, with no selection cassette)	Mice, Tissue

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: Mmachc MGI:1914346

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

Immunophenotyping

X-ray

MicroCT E14.5-E15.5

X-ray

Gross Morphology Embryo E14.5-E15.5

Embryo LacZ

Gross Pathology and Tissue Collection

X-ray

Immunophenotyping

Eye Morphology

Combined SHIRPA and Dysmorphology

X-ray

Human diseases caused by Mmachc mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data