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Gene: Cep290 MGI:2384917

Gene Summary

Name:

centrosomal protein 290

Synonyms:

b2b1454Clo, Nphp6, Kiaa, b2b1752Clo

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	P Value
abnormal blood vessel morphology	Cep290^em1(IMPC)Mbp	HOM	E18.5	0.00
decreased mean corpuscular hemoglobin	Cep290^em1(IMPC)Mbp	HET	Early adult	6.77×10^-05
abnormal facial morphology	Cep290^em1(IMPC)Mbp	HOM	E18.5	0.00
no spontaneous movement	Cep290^em1(IMPC)Mbp	HET	E18.5	0.00
preweaning lethality, incomplete penetrance	Cep290^em1(IMPC)Mbp	HOM	Early adult	0.00
no spontaneous movement	Cep290^em1(IMPC)Mbp	HOM	E18.5	0.00
hemorrhage	Cep290^em1(IMPC)Mbp	HOM	E18.5	0.00
abnormal head shape	Cep290^em1(IMPC)Mbp	HOM	E18.5	0.00
decreased mean corpuscular hemoglobin concentration	Cep290^em1(IMPC)Mbp	HET	Early adult	3.15×10^-05

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lacZ Expression

Expression data not available

Associated Images

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

MicroCT E18.5

Embryo reconstruction

5 Images

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Gross Morphology Embryo E18.5

Images

8 Images

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X-ray

XRay Images Whole Body Dorso Ventral

30 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Human diseases caused by Cep290 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 Cep290 (10 diseases)
Human diseases predicted to be associated with Cep290 (2416 diseases)

The table below shows human diseases associated to Cep290 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Leber Congenital Amaurosis 10	Hyposmia	OMIM:611755
Joubert Syndrome 5	Occipital encephalocele, Aggressive behavior, Impaired renal concentrating ability, Stage 5 chron...	OMIM:610188
Meckel Syndrome	Accessory spleen, Ureteral duplication, Multicystic kidney dysplasia, Pancreatic fibrosis, Microg...	ORPHA:564
Senior-Loken Syndrome	Abnormality of retinal pigmentation, Retinal dystrophy	ORPHA:3156
Leber Congenital Amaurosis	Abnormality of retinal pigmentation, Abnormal optic disc morphology	ORPHA:65
Senior-Loken Syndrome 6	Rod-cone dystrophy, Stage 5 chronic kidney disease	OMIM:610189
Bardet-Biedl Syndrome 14	Renal insufficiency, Rod-cone dystrophy	OMIM:615991
Bardet-Biedl Syndrome	Hypoplasia of penis, Multicystic kidney dysplasia, Cryptorchidism, Nephrotic syndrome, Pigmentary...	ORPHA:110
Meckel Syndrome, Type 4	Atrial septal defect, Bile duct proliferation, Ventricular septal defect, Renal cyst	OMIM:611134
Joubert Syndrome With Oculorenal Defect	Encephalocele, Renal insufficiency, Aganglionic megacolon, Retinal dystrophy, Hydrocephalus, Chor...	ORPHA:2318

The table below shows human diseases predicted to be associated to Cep290 by phenotypic similarity.

Disease	Matching phenotypes	Source
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Hemoglobin-Delta locus	Imbalanced hemoglobin synthesis, Anemia	OMIM:142000
Atr-16 syndrome	Abnormal erythrocyte morphology	DECIPHER:65
Hemoglobin E-Beta-Thalassemia Syndrome	Abnormal hemoglobin, Anemia	ORPHA:231249
Stargardt Disease 1	Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy	OMIM:248200
Acetophenetidin Sensitivity	Hemolytic anemia, Methemoglobinemia	OMIM:200300
Choroidal Dystrophy, Central Areolar, 1	Pigmentary retinopathy, Chorioretinal atrophy, Choriocapillaris atrophy	OMIM:215500
Retinal Dysplasia, Primary	Retinal dysplasia, Falciform retinal fold	OMIM:312550
Diamond-Blackfan Anemia-Like	Steroid-responsive anemia, Pure red cell aplasia	OMIM:617911
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole	Drusen, Reticular pigmentary degeneration, Retinal dystrophy	OMIM:267800
Macular Degeneration, Age-Related, 13	Drusen, Macular degeneration, Choroidal neovascularization, Macular scar	OMIM:615439
Delta-Beta-Thalassemia	Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231237
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Retinitis Pigmentosa 48	Macular degeneration, Rod-cone dystrophy	OMIM:613827
Retinitis Pigmentosa 36	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro...	OMIM:610599
Anosmia For Isobutyric Acid	Partial anosmia	OMIM:207000
Diamond-Blackfan Anemia 19	Erythroid hypoplasia, Steroid-responsive anemia, Anemia	OMIM:618312
Anosmia For Butyl Mercaptan	Anosmia	OMIM:270350
Anosmia, Isolated Congenital, X-Linked	Anosmia	OMIM:301700
Anosmia, Isolated Congenital	Anosmia	OMIM:107200
Isovaleric Acid, Inability To Smell	Anosmia	OMIM:243450
Night Blindness, Congenital Stationary, Type 1D	Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re...	OMIM:613830
Doyne Honeycomb Retinal Dystrophy	Reticular pigmentary degeneration, Retinal dystrophy	OMIM:126600
Retinal Degeneration And Epilepsy	Retinal degeneration	OMIM:267740
Macular Dystrophy, Patterned, 3	Rod-cone dystrophy, Choroidal neovascularization, Macular atrophy	OMIM:617111
Tricuspid Atresia	Ventricular septal defect, Hypoplasia of right ventricle, Coarctation of aorta, Persistent left s...	ORPHA:1209
Cone-Rod Dystrophy 7	Cone/cone-rod dystrophy, Bull's eye maculopathy, Macular atrophy	OMIM:603649
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10	Neural tube defect, Retinal dysplasia, Cerebellar dysplasia	OMIM:615041
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Atrophia Maculosa Varioliformis Cutis, Familial	Macular atrophy	OMIM:601341
Transient Erythroblastopenia Of Childhood	Transient erythroblastopenia, Anemia	OMIM:227050
Macular Degeneration, Age-Related, 6	Macular degeneration	OMIM:613757
Macular Degeneration, Age-Related, 15	Macular degeneration	OMIM:615591
Macular Degeneration, Age-Related, 11	Macular degeneration	OMIM:611953
Macular Degeneration, Age-Related, 4	Macular degeneration	OMIM:610698
Macular Degeneration, Age-Related, 7	Macular degeneration	OMIM:610149
Macular Degeneration, Age-Related, 2	Macular degeneration	OMIM:153800
Macular Degeneration, Early-Onset	Macular degeneration, Choroidal neovascularization	OMIM:616118
Macular Dystrophy, Retinal, 2	Macular dystrophy, Perifoveal ring of hyperautofluorescence, Granular macular appearance, Retinal...	OMIM:608051
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Oocyte/Zygote/Embryo Maturation Arrest 9	Oocyte arrest at metaphase I, Female infertility	OMIM:619011
Macular Dystrophy, Retinal, 1, North Carolina Type	Drusen, Macular dystrophy, Abnormality of macular pigmentation, Peripheral retinal atrophy	OMIM:136550
Oocyte/Zygote/Embryo Maturation Arrest 4	Oocyte arrest at metaphase I, Female infertility	OMIM:617743
Oocyte/Zygote/Embryo Maturation Arrest 2	Oocyte arrest at metaphase I, Female infertility	OMIM:616780
Stargardt Disease 4	Macular degeneration, Retinal flecks	OMIM:603786
Oocyte/Zygote/Embryo Maturation Arrest 14	Oocyte maturation arrest, Female infertility	OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5	Lack of oocyte pronucleus formation, Female infertility	OMIM:617996
Stargardt Disease 3	Macular dystrophy, Macular atrophy, Macular flecks	OMIM:600110
Heterotaxy, Visceral, 4, Autosomal	Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit...	OMIM:613751
Exudative Vitreoretinopathy 7	Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration	OMIM:617572
Hemoglobin H Disease	Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Leber Congenital Amaurosis 13	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of ret...	OMIM:612712
Musk, Inability To Smell	Anosmia	OMIM:254150
Macular Degeneration, Atrophic, X-Linked	Macular degeneration	OMIM:300834
Leber Congenital Amaurosis 19	Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels	OMIM:618513
Late-Onset Retinal Degeneration	Sub-RPE deposits, Choroidal neovascularization, Chorioretinal degeneration, Retinopathy, Retinal ...	OMIM:605670
Retinoschisis 1, X-Linked, Juvenile	Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula...	OMIM:312700
Grouped Pigmentation Of The Retina	Abnormality of retinal pigmentation	OMIM:233800
Hyperreflexia	Abnormality of retinal pigmentation	OMIM:145290
Retinopathy, Pericentral Pigmentary, Dominant	Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat...	OMIM:180210
Hyperleucine-Isoleucinemia	Retinal degeneration	OMIM:238340
Macular Dystrophy, Vitelliform, 2	Macular dystrophy, Cystoid macular degeneration, Subretinal fluid	OMIM:153700
Spermatogenic Failure 59	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619645
Spermatogenic Failure 60	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619646
Spermatogenic Failure 74	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619937
Spermatogenic Failure 73	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619878
Retinitis Pigmentosa 31	Rod-cone dystrophy, Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels	OMIM:609923
X-Linked Retinal Dysplasia	Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia	ORPHA:1852
Nephronophthisis 16	Renal insufficiency, Situs inversus totalis, Patent ductus arteriosus, Stage 5 chronic kidney dis...	OMIM:615382
Oocyte/Zygote/Embryo Maturation Arrest 13	Female infertility	OMIM:620154
Oocyte/Zygote/Embryo Maturation Arrest 8	Female infertility	OMIM:619009
Beta-Thalassemia, Dominant Inclusion Body Type	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu...	OMIM:603902
Ventricular Septal Defect 1	Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect...	OMIM:614429
Liberfarb Syndrome	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal degeneration, Retinal pigment...	OMIM:618889
Oocyte/Zygote/Embryo Maturation Arrest 12	Female infertility	OMIM:619697
Cayler Cardiofacial Syndrome	Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect	OMIM:125520
Right Atrial Isomerism	Right atrial isomerism, Ventricular septal defect, Dextrocardia, Aortopulmonary collateral arteri...	OMIM:208530
Sorsby Pseudoinflammatory Fundus Dystrophy	Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Macular dystro...	ORPHA:59181
Heterotaxy, Visceral, 6, Autosomal	Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Right aortic arch, Hypoplast...	OMIM:614779
Leber Congenital Amaurosis 10	Hyposmia	OMIM:611755
Alpha-Thalassemia Myelodysplasia Syndrome	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:300448
Laterality Defects, Autosomal Dominant	Situs inversus totalis, Heterotaxy, Asplenia	OMIM:601086
Spermatogenic Failure 57	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi...	OMIM:619528
Spermatogenic Failure 50	Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size	OMIM:619145
Macular Dystrophy, Retinal, 3	Macular drusen, Retinal pigment epithelial atrophy	OMIM:608850
Cleft Lip-Retinopathy Syndrome	Abnormality of retinal pigmentation, Retinopathy	ORPHA:1995
Premature Ovarian Failure 19	Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility	OMIM:619245
Genitopalatocardiac Syndrome	Ventricular septal defect, Hypospadias, Micrognathia, Renal cyst, Right aortic arch, Transpositio...	OMIM:231060
Spermatogenic Failure 32	Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype	OMIM:618115
Spermatogenic Failure 71	Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype	OMIM:619831
Spermatogenic Failure 62	Male infertility, Non-obstructive azoospermia	OMIM:619673
Spermatogenic Failure 61	Male infertility, Non-obstructive azoospermia	OMIM:619672
Senior-Loken Syndrome 4	Polyuria, Stage 5 chronic kidney disease, Nephronophthisis, Polydipsia, Rod-cone dystrophy	OMIM:606996
Spermatogenic Failure 52	Male infertility, Azoospermia	OMIM:619202
Spermatogenic Failure 23	Male infertility, Azoospermia	OMIM:617707
Spermatogenic Failure 4	Male infertility, Azoospermia	OMIM:270960
Spermatogenic Failure, Y-Linked, 2	Male infertility, Azoospermia	OMIM:415000
Congenital Heart Defects, Multiple Types, 6	Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a...	OMIM:613854
Retinitis Pigmentosa Inversa With Deafness	Rod-cone dystrophy, Retinitis pigmentosa inversa	OMIM:268010
Anemia, Sideroblastic, 4	Abnormal erythrocyte morphology, Sideroblastic anemia	OMIM:182170
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia	Cryptorchidism, Anosmia, Decreased testicular size	OMIM:614858
Cone-Rod Dystrophy 22	Retinal pigment epithelial atrophy, Bull's eye maculopathy, Hyperautofluorescent macular lesion, ...	OMIM:619531
Stargardt Disease	Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment...	ORPHA:827
Retinitis Pigmentosa 32	Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor...	OMIM:609913
Retinal Cone Dystrophy 1	Cone/cone-rod dystrophy, Bull's eye maculopathy, Retinal degeneration	OMIM:180020
Premature Ovarian Failure 2B	Premature ovarian insufficiency, Primary amenorrhea, Female infertility, Delayed puberty	OMIM:300604
Ceroid Lipofuscinosis, Neuronal, 6A	Retinal degeneration	OMIM:601780
Retinitis Pigmentosa 33	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R...	OMIM:610359
Bardet-Biedl Syndrome 13	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:615990
Thumb Agenesis, Short Stature, And Immunodeficiency	Anosmia	OMIM:274190
Choroideremia	Bone spicule pigmentation of the retina, Chorioretinal degeneration, Retinal pigment epithelial m...	OMIM:303100
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia	ORPHA:231393
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Retinal degeneration	OMIM:251700
Heterotaxy, Visceral, 7, Autosomal	Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypoplasia of right ventricl...	OMIM:616749
Spermatogenic Failure 17	Male infertility	OMIM:617214
Central Areolar Choroidal Dystrophy	Macular atrophy, Foveal photoreceptor outer segment loss on macular OCT, Drusen, Retinal pigment ...	ORPHA:75377
Retinitis Pigmentosa 39	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:613809
Cone-Rod Dystrophy 11	Cone/cone-rod dystrophy, Macular degeneration, Bull's eye maculopathy, Macular atrophy	OMIM:610381
Hydatidiform Mole, Recurrent, 3	Female infertility	OMIM:618431
Hydatidiform Mole, Recurrent, 4	Female infertility	OMIM:618432
Retinitis Pigmentosa 70	Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of...	OMIM:615922
Persistent Placoid Maculopathy	Hypoplasia of the fovea, Retinal pigment epithelial mottling, Choroidal neovascularization, Abnor...	ORPHA:97341
Oocyte/Zygote/Embryo Maturation Arrest 10	Female infertility	OMIM:619176
Night Blindness, Congenital Stationary, Autosomal Dominant 1	Congenital stationary night blindness, Bone spicule pigmentation of the retina	OMIM:610445
Oocyte/Zygote/Embryo Maturation Arrest 11	Female infertility	OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 6	Female infertility	OMIM:618353
Progesterone Resistance	Female infertility	OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 15	Female infertility	OMIM:616814
Oocyte/Zygote/Embryo Maturation Arrest 3	Female infertility	OMIM:617712
Oocyte/Zygote/Embryo Maturation Arrest 7	Female infertility	OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 18	Female infertility	OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19	Female infertility	OMIM:620333
Oocyte/Zygote/Embryo Maturation Arrest 1	Female infertility	OMIM:615774
Familial Drusen	Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid...	ORPHA:75376
Polycystic Kidney Disease 5	Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co...	OMIM:617610
Retinitis Pigmentosa 81	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A...	OMIM:617871
Bardet-Biedl Syndrome 10	Renal insufficiency, Rod-cone dystrophy, Retinal dystrophy, Renal cyst	OMIM:615987
Leber Congenital Amaurosis With Early-Onset Deafness	Retinal pigment epithelial mottling, Peripapillary atrophy, Retinal degeneration	OMIM:617879
Retinitis Pigmentosa 68	Rod-cone dystrophy, Bone spicule pigmentation of the retina, Retinal atrophy	OMIM:615725
Nephronophthisis	Abnormality of retinal pigmentation	ORPHA:655
Bothnia Retinal Dystrophy	Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinitis, Abnormal ...	ORPHA:85128
Nephronophthisis 14	Situs inversus totalis, Polycystic kidney dysplasia, Nephronophthisis	OMIM:614844
Homocarnosinosis	Abnormality of skin pigmentation, Abnormality of retinal pigmentation	OMIM:236130
Conotruncal Heart Malformations	Complete atrioventricular canal defect, Double outlet right ventricle, Coarctation of aorta, Tran...	OMIM:217095
Apnea, Obstructive Sleep	Anosmia	OMIM:107650
Macular Degeneration, Age-Related, 1	Macular drusen, Choroidal neovascularization, Geographic atrophy, Macular hemorrhage, Macular deg...	OMIM:603075
Senior-Loken Syndrome 7	Retinal degeneration	OMIM:613615
Best Vitelliform Macular Dystrophy	Choroideremia, Cystoid macular degeneration	ORPHA:1243
Charcot-Marie-Tooth Disease, Demyelinating, Type 1H	Macular degeneration	OMIM:619764
Peripheral Cone Dystrophy	Cone/cone-rod dystrophy, Optic disc pallor, Optic atrophy, Peripheral retinal degeneration	OMIM:609021
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia	Cryptorchidism, Anosmia	OMIM:612370
Retinitis Pigmentosa 30	Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal atrophy, Rod-cone dystrophy...	OMIM:607921
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations	Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot	OMIM:601322
16P13.11 Microduplication Syndrome	Ventricular septal defect, Coarctation of aorta, Transposition of the great arteries, Atrial sept...	ORPHA:261243
Deafness-Infertility Syndrome	Male infertility, Azoospermia	ORPHA:94064
Fallot Complex With Severe Mental And Growth Retardation	Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis	OMIM:601127
Cone-Rod Dystrophy 5	Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Macular degeneration	OMIM:600977
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Persistence of hemoglobin F, Splenomegaly, Anemia	ORPHA:46532
Retinitis Pigmentosa 57	Optic disc pallor, Bone spicule pigmentation of the retina, Absent foveal reflex, Rod-cone dystro...	OMIM:613582
Tn Polyagglutination Syndrome	Abnormal erythrocyte morphology	OMIM:300622
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Heterotaxy, Visceral, 2, Autosomal	Dextrocardia, Situs inversus totalis, Atrioventricular canal defect, Asplenia, Left atrial isomer...	OMIM:605376
Female Infertility Due To Oocyte Meiotic Arrest	Abnormal spermatogenesis, Oocyte arrest at metaphase I, Abnormal meiosis, Female infertility	ORPHA:488191
Retinitis Pigmentosa 11	Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul...	OMIM:600138
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome	Abnormality of retinal pigmentation	ORPHA:2579
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia	Anosmia	OMIM:615270
Meacham Syndrome	Accessory spleen, Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Patent ductus a...	OMIM:608978
Bardet-Biedl Syndrome 16	Renal insufficiency, Renal agenesis, Stage 5 chronic kidney disease, Renal cyst, Rod-cone dystrop...	OMIM:615993
Usher Syndrome, Type Iv	Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retina, Retinal atrophy, Re...	OMIM:618144
Spermatogenic Failure 35	Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ...	OMIM:618341
Spermatogenic Failure 20	Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella	OMIM:617593
Nanophthalmos	Abnormality of retinal pigmentation, Abnormal choroid morphology	ORPHA:35612
Spermatogenic Failure 30	Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest	OMIM:618110
Heterotaxy, Visceral, 12, Autosomal	Left Isomerism, Dextrotransposition of the great arteries, Pulmonary artery atresia, Atrial septa...	OMIM:619702
Spermatogenic Failure 29	Male infertility, Non-obstructive azoospermia, Immotile sperm	OMIM:618091
Retinitis Pigmentosa 47	Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy	OMIM:613758
Transposition Of The Great Arteries, Dextro-Looped	Transposition of the great arteries	OMIM:608808
Reticular Dystrophy Of Retinal Pigment Epithelium	Abnormality of retinal pigmentation, Pigmentary retinopathy	OMIM:179840
Retinitis Pigmentosa 13	Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce...	OMIM:600059
Spinocerebellar Ataxia, Autosomal Recessive 12	Cerebellar atrophy, Optic atrophy, Retinal degeneration	OMIM:614322
Spermatogenic Failure 48	Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia	OMIM:619108
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia	Hyposmia, Anosmia, Bifid nose, Decreased testicular size	OMIM:614838
Congenital Heart Defects, Multiple Types, 4	Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Aortic valve stenosis, A...	OMIM:615779
Heinz Body Anemias	Nonspherocytic hemolytic anemia, Heinz bodies, Heinz body anemia	OMIM:140700
Wagner Vitreoretinopathy	Retinal pigment epithelial atrophy, Optically empty vitreous, Optic atrophy, Chorioretinal atroph...	OMIM:143200
Bothnia Retinal Dystrophy	Macular degeneration, Retinal dystrophy	OMIM:607475
Hypogonadotropic Hypogonadism 17 With Or Without Anosmia	Hyposmia	OMIM:615266
Bardet-Biedl Syndrome 17	Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Polydipsia, Polyuria, Macular a...	OMIM:615994
Spermatogenic Failure 22	Male infertility, Non-obstructive azoospermia, Cryptozoospermia	OMIM:617706
Retinitis Pigmentosa 4	Bone spicule pigmentation of the retina, Retinal atrophy, Pigmentary retinopathy, Rod-cone dystro...	OMIM:613731
Pulmonary Atresia With Ventricular Septal Defect	Pulmonary artery atresia, Ventricular septal defect	OMIM:178370
Nephronophthisis 11	Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico...	OMIM:613550
Hyperprolactinemia	Menorrhagia, Oligomenorrhea, Female infertility	OMIM:615555
Oocyte/Zygote/Embryo Maturation Arrest 17	Female infertility, Amenorrhea	OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20	Female infertility, Amenorrhea	OMIM:620383
Progressive Bifocal Chorioretinal Atrophy	Pigmentary retinopathy, Chorioretinal dystrophy, Macular atrophy	ORPHA:75373
Spermatogenic Failure 72	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent...	OMIM:619867
Spermatogenic Failure 34	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent...	OMIM:618153
Retinitis Pigmentosa 90	Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Hyperautofluorescent...	OMIM:619007
Spermatogenic Failure 46	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh...	OMIM:619095
Spermatogenic Failure 33	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh...	OMIM:618152
Spermatogenic Failure 37	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh...	OMIM:618429
Spermatogenic Failure 18	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh...	OMIM:617576
Spermatogenic Failure, X-Linked, 5	Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A...	OMIM:301099
Spermatogenic Failure 27	Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ...	OMIM:617965
Spermatogenic Failure 25	Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia	OMIM:617960
Spermatogenic Failure 43	Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ...	OMIM:618751
Spermatogenic Failure 49	Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe...	OMIM:619144
Spermatogenic Failure 45	Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe...	OMIM:619094
Spermatogenic Failure 19	Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe...	OMIM:617592
Spermatogenic Failure 82	Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro...	OMIM:620353
Atrial Septal Defect 4	Atrial septal defect, Patent foramen ovale, Coarctation of aorta	OMIM:611363
Spermatogenic Failure 83	Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog...	OMIM:620354
Spermatogenic Failure 3	Male infertility, Reduced sperm motility	OMIM:606766
Spermatogenic Failure, Y-Linked, 1	Male infertility, Reduced sperm motility	OMIM:400042
Spermatogenic Failure 55	Male infertility, Reduced sperm motility	OMIM:619380
Congenital Heart Defects, Multiple Types, 5	Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ...	OMIM:617912
Renal-Hepatic-Pancreatic Dysplasia 1	Asplenia, Hepatic fibrosis, Atrial septal defect, Hepatomegaly, Portal hypertension, Malformation...	OMIM:208540
Bestrophinopathy, Autosomal Recessive	Retinal pigment epithelial atrophy, Retinal flecks	OMIM:611809
Retinitis Pigmentosa 96	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal thinning	OMIM:620228
Partial Chromosome Y Deletion	Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato...	ORPHA:1646
Diamond-Blackfan Anemia 16	Atrial septal defect, Anemia, Pulmonic stenosis	OMIM:617408
Retinitis Pigmentosa 38	Optic disc pallor, Peripheral retinal atrophy, Macular atrophy, Rod-cone dystrophy	OMIM:613862
Chondrodysplasia Punctata 1, X-Linked Recessive	Short nasal septum, Anosmia, Depressed nasal bridge, Short nose	OMIM:302950
Hypoglossia With Situs Inversus	Situs inversus totalis, Asplenia, Polysplenia, Micrognathia	OMIM:612776
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:1574
Retinitis Pigmentosa 54	Fundus atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retin...	OMIM:613428
Ataxia-Tapetoretinal Degeneration Syndrome	Pigmentary retinopathy, Rod-cone dystrophy	ORPHA:1178
Ventricular Septal Defect 3	Atrial septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Ventricular septal defect	OMIM:614432
Retinitis Pigmentosa 62	Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Rod-cone dyst...	OMIM:614181
Retinitis Pigmentosa 95	Optic disc pallor, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluoresce...	OMIM:620102
Retinitis Pigmentosa 88	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular...	OMIM:618826
Intellectual Developmental Disorder And Retinitis Pigmentosa	Abnormal flash visual evoked potentials, Optic disc pallor, Bone spicule pigmentation of the reti...	OMIM:618195
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia	Anosmia	OMIM:615267
RCAD (renal cysts and diabetes)	Abnormality of the liver, Multiple renal cysts	DECIPHER:47
Spermatogenic Failure 70	Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia	OMIM:619828
Heterotaxy, Visceral, 1, X-Linked	Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great arteries, Atrial septal...	OMIM:306955
Spermatogenic Failure 36	Male infertility, Abnormal sperm morphology	OMIM:618420
Progressive Cone Dystrophy	Abnormality of retinal pigmentation	ORPHA:1871
Bardet-Biedl Syndrome 9	Renal insufficiency, Bone spicule pigmentation of the retina, Polydipsia, Rod-cone dystrophy, Pol...	OMIM:615986
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia	Hyposmia, Cryptorchidism, Anosmia, Decreased testicular size	OMIM:610628
Retinitis Pigmentosa 61	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:614180
Bardet-Biedl Syndrome 4	Abnormality of the kidney, Cryptorchidism, Renal cyst, Rod-cone dystrophy, Retinal degeneration	OMIM:615982
Ceroid Lipofuscinosis, Neuronal, 2	Retinal degeneration	OMIM:204500
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Cystoid macular degeneration, Macular atrophy, Retinal degeneration	OMIM:267760
Cone-Rod Dystrophy 24	Cone/cone-rod dystrophy, Macular drusen, Macular atrophy, Pigmentary retinopathy, Macular degener...	OMIM:620342
Retinitis Pigmentosa 76	Bone spicule pigmentation of the retina, Retinal thinning, Hyperautofluorescent macular lesion, P...	OMIM:617123
Nephronophthisis-Like Nephropathy 2	Renal insufficiency, Polyuria, Periglomerular fibrosis, Stage 5 chronic kidney disease, Tubular l...	OMIM:619468
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:2246
Retinitis Pigmentosa 9	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atrophy, Macular edema	OMIM:180104
Retinitis Pigmentosa 40	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:613801
Cyanosis, Transient Neonatal	Reticulocytosis, Methemoglobinemia, Anemia	OMIM:613977
Retinitis Pigmentosa 80	Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retinal blood vessels	OMIM:617781
Spermatogenic Failure 56	Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ...	OMIM:619515
Spermatogenic Failure 65	Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ...	OMIM:619712
Spermatogenic Failure, X-Linked, 3	Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s...	OMIM:301059
Spermatogenic Failure 80	Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag...	OMIM:620222
Spermatogenic Failure 40	Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ...	OMIM:618664
Spermatogenic Failure 76	Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp...	OMIM:620084
Retinitis Pigmentosa 73	Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge...	OMIM:616544
Spermatogenic Failure 58	Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla...	OMIM:619585
Spermatogenic Failure 47	Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella	OMIM:619102
Oculorenocerebellar Syndrome	Glomerular sclerosis, Nephropathy, Retinal degeneration	OMIM:257970
Retinitis Pigmentosa 84	Bone spicule pigmentation of the retina, Macular atrophy, Macular coloboma, Rod-cone dystrophy, A...	OMIM:618220
Pigmented Paravenous Chorioretinal Atrophy	Bone spicule pigmentation of the retina, Paravenous chorioretinal atrophy, Vitreoretinopathy	OMIM:172870
Spermatogenic Failure 79	Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia	OMIM:620196
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia	Hyposmia, Cryptorchidism, Anosmia	OMIM:612702
Cone-Rod Dystrophy 13	Cone/cone-rod dystrophy, Macular degeneration	OMIM:608194
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Bicuspid aortic valve, Unilateral renal agenesis, Anomalous origin of left coronary artery from t...	OMIM:618845
Spermatogenic Failure 7	Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia	OMIM:612997
Retinitis Pigmentosa 19	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R...	OMIM:601718
Retinitis Pigmentosa 87 With Choroidal Involvement	Pigmentary retinopathy, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Nummular ...	OMIM:618697
Ophthalmoplegia, External, And Myopia	Retinal degeneration, Chorioretinal degeneration	OMIM:311000
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia	Hyposmia	OMIM:615271
Spermatogenic Failure 63	Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia	OMIM:619689
Spermatogenic Failure 10	Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia	OMIM:614822
Spermatogenic Failure 11	Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia	OMIM:615081
Spermatogenic Failure 78	Male infertility, Microcephalic sperm head, Tapered sperm head	OMIM:620170
Spermatogenic Failure 1	Male infertility, Cryptozoospermia, Oligozoospermia	OMIM:258150
Cone-Rod Dystrophy 16	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Beaten bronz...	OMIM:614500
Morm Syndrome	Hyperactivity, Retinal atrophy, Retinal dystrophy, Abnormality of the kidney, Aggressive behavior...	ORPHA:75858
Retinitis Pigmentosa 27	Bone spicule pigmentation of the retina, Peripapillary chorioretinal atrophy, Macular atrophy, Ch...	OMIM:613750
Macular Dystrophy, Vitelliform, 3	Choroidal neovascularization, Macular atrophy, Drusen, Vitelliform-like macular lesions, Macular ...	OMIM:608161
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Pigmentary retinopathy	OMIM:609016
Cone Dystrophy 3	Cone/cone-rod dystrophy, Macular atrophy	OMIM:602093
Retinitis Pigmentosa 28	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:606068
Senior-Loken Syndrome 1	Renal insufficiency, Retinal dystrophy, Polyuria, Thickening of the tubular basement membrane, Im...	OMIM:266900
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia	Rhegmatogenous retinal detachment, Lattice retinal degeneration	OMIM:619248
Blue Cone Monochromatism	Abnormality of retinal pigmentation	ORPHA:16
Retinal Dystrophy And Obesity	Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Retinal dots, Peripapi...	OMIM:616188
Spermatogenic Failure 42	Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe...	OMIM:618745
X-Linked Neurodegenerative Syndrome, Bertini Type	Macular degeneration	ORPHA:85334
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility	Situs inversus totalis, Dextrocardia, Asplenia	OMIM:618948
Hanac Syndrome	Hematuria, Renal insufficiency, Multiple renal cysts, Retinal vascular tortuosity	ORPHA:73229
Spermatogenic Failure 39	Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel...	OMIM:618643
Spermatogenic Failure 5	Male infertility, Multiflagellar spermatozoa, Macrozoospermia	OMIM:243060
Body Mass Index Quantitative Trait Locus 19	Hyposmia, Anosmia	OMIM:617885
Retinitis Pigmentosa 7	Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood v...	OMIM:608133
Retinitis Pigmentosa 17	Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:600852
Spermatogenic Failure 54	Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit...	OMIM:619379
Poretti-Boltshauser Syndrome	Dilated fourth ventricle, Cerebellar dysplasia, Cerebellar vermis hypoplasia, Retinal atrophy, Re...	OMIM:615960
Spermatogenic Failure 44	Male infertility, Acephalic spermatozoa, Reduced sperm motility	OMIM:619044
Spermatogenic Failure 21	Male infertility, Acephalic spermatozoa, Reduced sperm motility	OMIM:617644
Spermatogenic Failure 16	Male infertility, Acephalic spermatozoa, Reduced sperm motility	OMIM:617187
Spermatogenic Failure 41	Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella	OMIM:618670
Spermatogenic Failure 53	Male infertility, Tapered sperm head	OMIM:619258
Spermatogenic Failure 31	Male infertility, Acephalic spermatozoa	OMIM:618112
Spermatogenic Failure 26	Male infertility, Acephalic spermatozoa	OMIM:617961
Congenitally Uncorrected Transposition Of The Great Arteries	Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon...	ORPHA:860
Peroxisome Biogenesis Disorder 3A (Zellweger)	Hepatomegaly, Polycystic kidney dysplasia, Vascular dilatation	OMIM:614859
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease	Renal insufficiency, Cerebral berry aneurysm, Mitral valve prolapse, Polycystic kidney dysplasia,...	OMIM:173900
Male Infertility Due To Acephalic Spermatozoa	Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re...	ORPHA:529970
Exudative Vitreoretinopathy 3	Retinal detachment, Retinal exudate, Exudative vitreoretinopathy, Retinal hole, Retinal fold	OMIM:605750
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Ventricular septal defect, Dextrocardia, Thoracic aortic aneurysm, Asplenia, Patent ductus arteri...	OMIM:619657
Primary Ciliary Dyskinesia	Abnormal atrial arrangement, Atrial situs ambiguous, Situs inversus totalis, Asplenia, Anomalous ...	ORPHA:244
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm	Male infertility, Abnormal sperm morphology, Immotile sperm	OMIM:608653
Aural Atresia, Congenital	Hyposmia	OMIM:607842
Congenital Amegakaryocytic Thrombocytopenia	Thrombocytopenia, Abnormal hemoglobin, Anemia	ORPHA:3319
Congenital Heart Defects, Multiple Types, 9	Mitral atresia, Aortopulmonary collateral arteries, Arteria lusoria, Double outlet right ventricl...	OMIM:620294
Diamond-Blackfan Anemia 3	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia	OMIM:610629
Distal 7Q11.23 Microdeletion Syndrome	Atrial septal defect, Patent ductus arteriosus	ORPHA:254351
Renal Hypoplasia	Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ...	ORPHA:93101
Oliver-Mcfarlane Syndrome	Severe short stature, Small for gestational age, Hypogonadotropic hypogonadism, Cryptorchidism, P...	OMIM:275400
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia	Cryptorchidism, Anosmia, Decreased testicular size	OMIM:614880
Cone Rod Dystrophy	Abnormality of retinal pigmentation	ORPHA:1872
Partial Atrioventricular Septal Defect	Bicuspid aortic valve, Transient ischemic attack, Coronary sinus enlargement, Partial atrioventri...	ORPHA:1330
Nephronophthisis 9	Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis	OMIM:613824
Cardiac-Urogenital Syndrome	Patent urachus, Scimitar anomaly, Atrial septal defect, Micropenis, Mesocardia, Penoscrotal hypos...	OMIM:618280
Polycystic Kidney Disease 7	Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Multiple renal cysts, Renal i...	OMIM:620056
Hepatorenocardiac Degenerative Fibrosis	Portal hypertension, Hepatocellular carcinoma, Hypersplenism, Jaundice, Renal cyst, Hepatosplenom...	OMIM:619902
Ceroid Lipofuscinosis, Neuronal, 7	Retinopathy, Pigmentary retinopathy, Optic atrophy	OMIM:610951
Microphthalmia, Isolated 5	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, F...	OMIM:611040
Retinitis Pigmentosa 86	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N...	OMIM:618613
Megabladder, Congenital	Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, ...	OMIM:618719
Central Retinal Vein Occlusion	Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P...	ORPHA:411527
Retinitis Pigmentosa 69	Pigmentary retinopathy, Perifoveal hypoautofluorescence, Rod-cone dystrophy	OMIM:615780
Cone-Rod Dystrophy, X-Linked, 1	Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy, Hypoautofluorescent macu...	OMIM:304020
Renal Glucosuria	Polyuria, Enuresis nocturna, Glycosuria, Polydipsia, Polyphagia	OMIM:233100
Spermatogenic Failure 64	Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti...	OMIM:619696
Isochromosomy Yp	Male infertility, Azoospermia, Decreased testicular size	ORPHA:98797
Asherman Syndrome	Metrorrhagia, Dysmenorrhea, Abnormality of the menstrual cycle, Decreased fertility in females, S...	ORPHA:137686
Retinitis Pigmentosa 79	Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retin...	OMIM:617460
Campomelia, Cumming Type	Pancreatic cysts, Polycystic liver disease, Polysplenia, Polycystic kidney dysplasia	OMIM:211890
Bietti Crystalline Dystrophy	Retinal pigment epithelial atrophy, Retinal thinning, Chorioretinal degeneration, Retinal pigment...	ORPHA:41751
White Forelock With Malformations	Atrial septal defect, Prominent veins on trunk	OMIM:277740
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia	Retinal degeneration	OMIM:617173
Microphthalmia, Syndromic 9	Renal malrotation, Ventricular septal defect, Micrognathia, Patent ductus arteriosus, Hypoplastic...	OMIM:601186
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia	Cryptorchidism, Anosmia, Azoospermia, Hyposmia, Decreased testicular size	OMIM:614897
Ceroid Lipofuscinosis, Neuronal, 3	Abnormal cerebellum morphology, Optic atrophy, Macular degeneration, Rod-cone dystrophy, Retinal ...	OMIM:204200
Nephronophthisis 1	Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico...	OMIM:256100
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Hepatomegaly, Recurrent urinary tract infections, Renal insufficiency, Dextrocardia, Situs invers...	OMIM:613095
Indomethacin Embryofetopathy	Renal insufficiency, Multicystic kidney dysplasia, Ventricular septal defect, Cardiomyopathy, Atr...	ORPHA:1909
Atrial Septal Defect 2	Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Pulmonic stenosis, Atrial sept...	OMIM:607941
Macular Degeneration, Age-Related, 3	Drusen, Macular degeneration, Decreased nerve conduction velocity, Choroidal neovascularization	OMIM:608895
Ciliary Dyskinesia, Primary, 14	Situs inversus totalis, Heterotaxy, Chronic sinusitis, Polysplenia	OMIM:613807
Neuropathy, Ataxia, And Retinitis Pigmentosa	Retinal pigment epithelial mottling, Rod-cone dystrophy, Retinopathy	OMIM:551500
Heterotaxy, Visceral, 8, Autosomal	Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm...	OMIM:617205
Achromatopsia 7	Hypoplasia of the fovea, Absent foveal reflex, Macular atrophy	OMIM:616517
Meckel Syndrome 13	Polycystic kidney dysplasia, Micrognathia	OMIM:617562
Retinitis Pigmentosa 77	Bone spicule pigmentation of the retina, Retinal atrophy, Rod-cone dystrophy, Cystoid macular ede...	OMIM:617304
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinal dystrophy, R...	OMIM:616108
Nephronophthisis 4	Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t...	OMIM:606966
Type 1 Diabetes Mellitus	Polydipsia, Polyphagia, Polyuria	OMIM:222100
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia	Hyposmia, Cryptorchidism, Anosmia	OMIM:244200
Achromatopsia	Hypoplasia of the fovea, Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling,...	ORPHA:49382
Atrial Septal Defect 8	Atrial septal defect, Anomalous pulmonary venous return	OMIM:614433
Retinitis Pigmentosa 6	Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal degeneration	OMIM:312612
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease	Dilatation of the cerebral artery, Hepatic cysts, Polycystic kidney dysplasia	OMIM:600666
Nephronophthisis 3	Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c...	OMIM:604387
Woronets Trait	Red blood cell keratocytosis	OMIM:194320
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia	Cryptorchidism, Decreased testicular size, Abnormality of the sense of smell	OMIM:146110
Nephronophthisis 15	Retinal degeneration, Nephronophthisis	OMIM:614845
8p23.1 deletion syndrome	Atrial septal defect, Atrioventricular canal defect, Abnormal heart morphology	DECIPHER:39
Deafness-Infertility Syndrome	Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma...	OMIM:611102
Myopia, High, With Cataract And Vitreoretinal Degeneration	Retinal detachment, Vitreous floaters, Peripheral vitreoretinal degeneration, Lattice retinal deg...	OMIM:614292
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Retinal dystrophy, Ch...	OMIM:251270
Hypogonadotropic Hypogonadism 25 With Anosmia	Cryptorchidism, Anosmia	OMIM:618841
Chromosome 16P13.3 Deletion Syndrome, Proximal	Hypoplastic left heart, Abnormality of the kidney, Polysplenia, Micrognathia	OMIM:610543
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility	Partial atrioventricular canal defect, Situs inversus totalis, Primum atrial septal defect, Polys...	OMIM:619608
Retinopathy, Pericentral Pigmentary, Autosomal Recessive	Pigmentary retinopathy	OMIM:268060
Renal Tubular Dysgenesis	Tetralogy of Fallot, Proximal tubulopathy, Multiple renal cysts, Nephropathy, Renotubular dysgenesis	ORPHA:3033
Cone-Rod Dystrophy 15	Rod-cone dystrophy, Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels	OMIM:613660
Atrioventricular Septal Defect 5	Muscular ventricular septal defect, Atrioventricular canal defect, Hypoplastic left heart	OMIM:614474
Fundus Dystrophy, Pseudoinflammatory, Recessive Form	Retinal hemorrhage, Central retinal exudate, Peripheral retinal degeneration	OMIM:264420
Pentalogy Of Cantrell	Absent gallbladder, Ventricular septal defect, Abnormal pericardium morphology, Hypospadias, Rena...	ORPHA:1335
Cone-Rod Dystrophy 21	Retinal dystrophy, Macular atrophy	OMIM:616502
Congenital Disorder Of Glycosylation, Type If	Ventriculomegaly, Optic atrophy, Renal cortical cysts	OMIM:609180
Heterotaxy, Visceral, 5, Autosomal	Ureteral duplication, Asplenia, Dextrotransposition of the great arteries, Atrial septal defect, ...	OMIM:270100
Peroxisome Biogenesis Disorder 9B	Anosmia, Total anosmia	OMIM:614879
Mpdu1-Cdg	Ventriculomegaly, Optic atrophy, Renal cortical cysts	ORPHA:79323
Mesoaxial Hexadactyly And Cardiac Malformation	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Pulmonic stenosis	OMIM:249670
Ochoa Syndrome	Recurrent urinary tract infections, Renal insufficiency, Urinary incontinence, Cryptorchidism, Ur...	ORPHA:2704
Cutis Laxa, Autosomal Recessive, Type Ic	Accessory spleen, Micrognathia, Vascular dilatation, Hypoplasia of the thymus, Multiple bladder d...	OMIM:613177
Spondylometaphyseal Dysplasia, Axial	Cone/cone-rod dystrophy, Short stature, Rhizomelia, Optic atrophy, Disproportionate short-trunk s...	OMIM:602271
Cranioacrofacial Syndrome	Ventricular septal defect, Pulmonic stenosis	OMIM:122850
Ciliary Dyskinesia, Primary, 25	Situs inversus totalis, Recurrent sinusitis, Dextrocardia, Polysplenia	OMIM:615482
Oligomeganephronia	Renal insufficiency, Proteinuria, Unilateral renal agenesis, Abnormal renal cortex morphology, Gl...	ORPHA:2260
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Ventricular septal defect, Renal hypoplasia/aplasia, Micrognathia, Abnormal aortic morphology, Mu...	ORPHA:1166
Deafness, Congenital Heart Defects, And Posterior Embryotoxon	Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis	OMIM:617992
Fetal Trimethadione Syndrome	Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Transposition of the great ...	ORPHA:1913
Retinal Cone Dystrophy 4	Cone/cone-rod dystrophy, Retinal pigment epithelial mottling	OMIM:610478
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia	Anosmia	OMIM:614839
Ritscher-Schinzel Syndrome 1	Ventricular septal defect, Hypospadias, Micrognathia, Missing ribs, Double outlet right ventricle...	OMIM:220210
Joubert Syndrome 20	Retinopathy, Self-mutilation, Renal cyst, Aggressive behavior	OMIM:614970
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia	Anosmia	OMIM:614842
Sonoda Syndrome	Ventricular septal defect	OMIM:270460
Optic Atrophy 5	Optic disc pallor, Abnormality of pattern visual evoked potentials, Optic atrophy	OMIM:610708
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia	Hyposmia, Cryptorchidism, Anosmia, Choanal atresia	OMIM:147950
Choroideremia	Abnormality of retinal pigmentation	ORPHA:180
Joubert Syndrome 5	Occipital encephalocele, Aggressive behavior, Impaired renal concentrating ability, Stage 5 chron...	OMIM:610188
Aneurysm Of Interventricular Septum	Vascular dilatation, Abnormal ventricular septum morphology	OMIM:105805
Diabetes And Deafness, Maternally Inherited	Pigmentary retinopathy, Retinal degeneration	OMIM:520000
Ceroid Lipofuscinosis, Neuronal, 1	Macular degeneration, Optic atrophy, Retinal degeneration	OMIM:256730
Spermatogenic Failure, X-Linked, 6	Male infertility, Coiled sperm flagella, Reduced sperm motility, Absent sperm axoneme central pai...	OMIM:301101
Meacham Syndrome	Ventricular septal defect, Situs inversus totalis, Abnormality of the spleen, Patent ductus arter...	ORPHA:3097
Carpenter Syndrome 1	Hydroureter, Ventricular septal defect, Micrognathia, Hypoplasia of the maxilla, Persistence of p...	OMIM:201000
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, Pericardial effusion, T lymphocytopen...	OMIM:619313
Senior-Loken Syndrome 3	Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisi...	OMIM:606995
Retinitis Pigmentosa 41	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary reti...	OMIM:612095
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Hyperactivity, Polyuria, Renal magnesium wasting, Self-biting, Nephrocalcinosis, Ventriculomegaly...	OMIM:618314
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Small for gestational age, Cryptorchidism, Growth delay, Pigmentary retinopathy, Hypogonadism, Re...	ORPHA:3363
Cardiac Septal Defects With Coarctation Of The Aorta	Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta	OMIM:212090
Nephronophthisis 2	Absence of renal corticomedullary differentiation, Stage 5 chronic kidney disease, Chronic tubulo...	OMIM:602088
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Cystinosis	Renal insufficiency, Proteinuria, Abnormal repetitive mannerisms, Renal tubular dysfunction, Amin...	ORPHA:213
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production	OMIM:603529
Persistent Mullerian Duct Syndrome, Types I And Ii	Male infertility, Bilateral cryptorchidism	OMIM:261550
Recombinant Chromosome 8 Syndrome	Ventricular septal defect, Micrognathia, Patent ductus arteriosus, Pulmonic stenosis, Atrial sept...	OMIM:179613
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia	ORPHA:846
Feingold Syndrome 1	Accessory spleen, Ventricular septal defect, Tricuspid stenosis, Micrognathia, Asplenia, Short th...	OMIM:164280
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, 11 pairs of ribs, Severe B lymphocytopenia, Portal hypertension, Micrognathia, ...	OMIM:620005
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Truncus arteriosus, Malformation of the hepatic ductal plate, Situs inversus totali...	OMIM:615415
Renal Dysplasia, Cystic, Susceptibility To	Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal...	OMIM:601331
Alagille Syndrome 2	Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Cholestasis, Hematuria, Renal tub...	OMIM:610205
Criss-Cross Heart	Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten...	ORPHA:1461
Congenital Disorder Of Glycosylation, Type Il	Hepatomegaly, Pericardial effusion, Hepatosplenomegaly, Abnormal cardiac septum morphology, Polyc...	OMIM:608776
Spermatogenic Failure 81	Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia	OMIM:620277
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome	Dilated fourth ventricle, Cerebellar dysplasia, Retinal atrophy, Retinal dystrophy, Elongated sup...	ORPHA:370022
Hyperostosis Cranialis Interna	Hyposmia, Anosmia	OMIM:144755
Joubert Syndrome 16	Encephalocele, Retinal dystrophy, Renal cyst, Nephronophthisis, Dandy-Walker malformation	OMIM:614465
Distal Duplication 17Q	Accessory spleen, Rhizomelia, Micrognathia, Abnormal heart morphology, Vesicoureteral reflux, Ren...	ORPHA:3379
Retinitis Pigmentosa 58	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro...	OMIM:613617
Retinitis Pigmentosa 45	Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:613767
Meckel Syndrome	Accessory spleen, Ureteral duplication, Multicystic kidney dysplasia, Pancreatic fibrosis, Microg...	ORPHA:564
Leber Congenital Amaurosis 9	Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macular scar, Macul...	OMIM:608553
Biliary, Renal, Neurologic, And Skeletal Syndrome	Secundum atrial septal defect, Primum atrial septal defect, Inlet ventricular septal defect, Hepa...	OMIM:619534
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome	Hydrocephalus, Optic atrophy, Dandy-Walker malformation	ORPHA:1538
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia	Cryptorchidism, Anosmia, Decreased testicular size	OMIM:616030
Retinitis Pigmentosa 10	Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at...	OMIM:180105
Morning Glory Disc Anomaly	Retinal detachment, Optic disc coloboma, Abnormality of retinal pigmentation	ORPHA:35737
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hepatomegaly, Microretrognathia, Ventricular septal defect, Microvesicular hepa...	OMIM:619418
Blepharophimosis With Ptosis, Syndactyly, And Short Stature	Anosmia, Wide nasal bridge	OMIM:210745
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction	Howell-Jolly bodies, Ventricular septal defect, Portal inflammation, Left superior vena cava drai...	OMIM:613759
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Occipital encephalocele, Renal insufficiency, Ventriculomegaly, Hypospadias, Retinal dystrophy, S...	ORPHA:397715
Adenosine Triphosphatase Deficiency, Anemia Due To	Nonspherocytic hemolytic anemia	OMIM:102800
Hemolytic Anemia With Thermal Sensitivity Of Red Cells	Congenital hemolytic anemia	OMIM:235370
Hemoglobin--Variants For Which The Chain Carrying The Mutation Is Unknown Or Uncertain	Compensated hemolytic anemia	OMIM:142309
Anemia, Nonspherocytic Hemolytic, Associated With Abnormality Of Red Cell Membrane	Nonspherocytic hemolytic anemia	OMIM:206300
Canavan Disease	Abnormality of visual evoked potentials, Abnormality of retinal pigmentation, Optic atrophy	ORPHA:141
Nephronophthisis 18	Retinitis, Hydrocephalus, Stage 5 chronic kidney disease, Thickened glomerular basement membrane,...	OMIM:615862
Meckel Syndrome, Type 1	Accessory spleen, Hypoplasia of the bladder, Natal tooth, Renal agenesis, Malformation of the hep...	OMIM:249000
Blepharophimosis-Ptosis-Esotropia-Syndactyly-Short Stature Syndrome	Anosmia	ORPHA:2057
Birdshot Chorioretinopathy	Retinal detachment, Optic disc pallor, Abnormal chorioretinal morphology, Choroidal neovasculariz...	ORPHA:179
Bardet-Biedl Syndrome 21	Cone/cone-rod dystrophy, Hypoplasia of the fovea, Retinal atrophy, Retinal thinning, Hyperautoflu...	OMIM:617406
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Aplasia/Hypoplasia involving the nose, Choanal atresia, Abnormality of the sense of smell	ORPHA:1135
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy	Atrial septal defect, Ventricular septal defect	OMIM:614249
Spastic Paraplegia 11, Autosomal Recessive	Urinary incontinence, Urinary urgency, Macular degeneration, Dysphagia, Urinary bladder sphincter...	OMIM:604360
Retinitis Pigmentosa 92	Pigmentary retinopathy	OMIM:619614
Hypercalcemia, Infantile, 2	Polyuria, Hypercalciuria, Renal phosphate wasting, Nephrocalcinosis, Medullary nephrocalcinosis	OMIM:616963
Spinal Muscular Atrophy, Type I	Atrial septal defect, Ventricular septal defect	OMIM:253300
Bardet-Biedl Syndrome 2	Rod-cone dystrophy, Hypogonadism, Obesity, Retinal degeneration	OMIM:615981
Multiple Mitochondrial Dysfunctions Syndrome 5	Pigmentary retinopathy	OMIM:617613
Adenylate Kinase Deficiency, Hemolytic Anemia Due To	Hemolytic anemia	OMIM:612631
Retinitis Pigmentosa 1	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re...	OMIM:180100
6-Phosphogluconolactonase Deficiency	Hemolytic anemia	OMIM:172150
Isolated Polycystic Liver Disease	Hepatomegaly, Polycystic liver disease, Abnormality of the pancreas, Multiple renal cysts, Vascul...	ORPHA:2924
Indifference To Pain, Congenital, Autosomal Recessive	Hyposmia, Anosmia	OMIM:243000
Lissencephaly Syndrome, Norman-Roberts Type	Atrial septal defect, Hypoplastic spleen, Patent foramen ovale	ORPHA:89844
Aortic Valve Disease 3	Bicuspid aortic valve, Aortic root aneurysm, Ascending aortic dissection, Atrial septal defect, A...	OMIM:618496
Meckel Syndrome, Type 11	Polycystic kidney dysplasia	OMIM:615397
Nephronophthisis 20	Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral...	OMIM:617271
Leber Congenital Amaurosis 8	Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fundus, Pigmentary retinopa...	OMIM:613835
Distal Triplication 15Q	Abnormality of the kidney, Micrognathia, Patent ductus arteriosus, Hypoplastic aortic arch, Dilat...	ORPHA:314588
Congenital Stationary Night Blindness	Abnormality of retinal pigmentation, Retinal thinning, Congenital stationary night blindness with...	ORPHA:215
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Cryptorchidism, Azoospermia, Anosmia, Decreased testicular size	OMIM:614837
Eng-Strom Syndrome	Abnormal cardiac septum morphology, Ventricular septal defect	ORPHA:1937
Spinocerebellar Ataxia, Autosomal Recessive 29	Retinal pigment epithelial mottling, Optic disc pallor	OMIM:619389
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differe...	OMIM:263200
Double Outlet Right Ventricle	Ventricular septal defect, Double outlet right ventricle, Coarctation of aorta, Heterotaxy, Hypop...	ORPHA:3426
Arima Syndrome	Dilated fourth ventricle, Occipital meningocele, Proteinuria, Polyuria, Retinal dystrophy, Optic ...	OMIM:243910
Vitreoretinal Degeneration, Snowflake Type	Retinal detachment, Snowflake vitreoretinal degeneration, Optically empty vitreous, Retinal dots	OMIM:193230
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Ventricular septal defect, Patent ductus arteriosus, Arteria lusoria, Abnormal aortic arch morpho...	ORPHA:99050
Gillessen-Kaesbach-Nishimura Syndrome	Micrognathia, Abnormal heart morphology, Periportal fibrosis, Polycystic kidney dysplasia, Retrog...	OMIM:263210
Ciliary Dyskinesia, Primary, 40	Left Isomerism, Situs inversus totalis, Patent ductus arteriosus, Right aortic arch, Interrupted ...	OMIM:618300
Hyperparathyroidism 2 With Jaw Tumors	Pancreatic adenocarcinoma, Nephrolithiasis, Papillary renal cell carcinoma, Recurrent pancreatiti...	OMIM:145001
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction	Retinal pigment epithelial mottling, Central retinal vessel vascular tortuosity, Hyporeflective s...	ORPHA:506353
Apparent Mineralocorticoid Excess	Renal insufficiency, Hypertensive retinopathy, Abnormal urine sodium concentration, Nephrocalcino...	ORPHA:320
Adenosine Triphosphate, Elevated, Of Erythrocytes	Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia	OMIM:102900
Leber Congenital Amaurosis 4	Cone/cone-rod dystrophy, Optic disc pallor, Macular atrophy, Attenuation of retinal blood vessels	OMIM:604393
Meckel Syndrome, Type 8	Pericardial effusion, Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys	OMIM:613885
Leber Congenital Amaurosis 2	Optic disc pallor, Fundus atrophy, Absent foveal reflex, Pigmentary retinopathy, Attenuation of r...	OMIM:204100
Atrial Septal Defect 1	Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec...	OMIM:108800
Hypotaurinemic Retinal Degeneration And Cardiomyopathy	Retinal thinning, Peripheral retinal atrophy, Macular atrophy, Retinal pigment epithelial mottlin...	OMIM:145350
Heart Defects-Limb Shortening Syndrome	Abnormal mitral valve morphology, Atrial septal defect, Ventricular septal defect, Abnormal tricu...	ORPHA:1354
Chudley-Mccullough Syndrome	Hydrocephalus, Cerebellar hypoplasia, Cerebellar dysplasia	OMIM:604213
Truncus Arteriosus	Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort...	ORPHA:3384
Spermatogenic Failure, X-Linked, 2	Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest	OMIM:309120
Adams-Oliver Syndrome 4	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:615297
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Decreased glome...	OMIM:618061
Cone-Rod Dystrophy 3	Cone/cone-rod dystrophy, Optic disc pallor, Bull's eye maculopathy, Pigmentary retinopathy, Atten...	OMIM:604116
Infundibulopelvic Dysgenesis	Multicystic kidney dysplasia, Microscopic hematuria	OMIM:600989
Ceroid Lipofuscinosis, Neuronal, 5	Cerebellar atrophy, Retinal degeneration	OMIM:256731
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome	Abnormality of retinal pigmentation, Facial palsy	ORPHA:2743
Congenital Heart Defects, Multiple Types, 3	Atrial septal defect, Tetralogy of Fallot, Persistent left superior vena cava, Abnormal heart mor...	OMIM:614954
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Cryptorchidism, Anosmia, Decreased testicular size	OMIM:614841
Retinitis Pigmentosa 46	Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels	OMIM:612572
Hypercalcemia, Infantile, 1	Polyuria, Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, Medullary nephrocalcinosis	OMIM:143880
Solitary Median Maxillary Central Incisor	Abnormal nasopharynx morphology, Midnasal stenosis, Choanal atresia, Anosmia, Pyriform aperture s...	OMIM:147250
Trisomy 17P	Hypoplasia of penis, Urethral valve, Micrognathia, Patent ductus arteriosus, Urethral stenosis, H...	ORPHA:261290
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Short humerus, Dextrocardia, Absent radius, Urethral atresia, Isomerism, Transposition of the gre...	OMIM:314390
Thomas Syndrome	Multicystic kidney dysplasia, Hypoplastic left heart, Renal hypoplasia/aplasia	ORPHA:3316
Premature Ovarian Failure 13	Oligomenorrhea, Female infertility, Amenorrhea	OMIM:617442
Brachytelephalangy-Dysmorphism-Kallmann Syndrome	Abnormal nostril morphology, Short nose, Anosmia	ORPHA:1295
Retinitis Pigmentosa 50	Retinal detachment, Optic disc pallor, Retinal flecks, Rod-cone dystrophy, Attenuation of retinal...	OMIM:613194
Hsd10 Mitochondrial Disease	Restlessness, Aggressive behavior, Optic atrophy, Abnormal mitochondrial morphology, Agitation, R...	OMIM:300438
Intellectual Developmental Disorder, Autosomal Dominant 66	Secundum atrial septal defect, Aortic root aneurysm, Transposition of the great arteries, Cerebra...	OMIM:619910
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects	Ventricular septal defect, Secundum atrial septal defect, Subvalvular aortic stenosis, Left ventr...	OMIM:108900
Autosomal Dominant Coarctation Of Aorta	Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m...	ORPHA:1455
Bornholm Eye Disease	Abnormality of retinal pigmentation, Optic nerve hypoplasia	OMIM:300843
Retinitis Pigmentosa 56	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P...	OMIM:613581
Leukoencephalopathy With Dystonia And Motor Neuropathy	Hyposmia, Azoospermia	OMIM:613724
Retinitis Pigmentosa 12	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re...	OMIM:600105
Oguchi Disease	Congenital stationary night blindness, Macular degeneration, Rod-cone dystrophy, Mizuo phenomenon	ORPHA:75382
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Chronic kidney disease, Renal cyst, Anemia, Focal segmental glomerulosclerosis, Neutropenia, Neph...	OMIM:617056
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy	Pigmentary retinopathy	OMIM:619090
22Q11.2 Duplication Syndrome	Ventricular septal defect, Hypoplastic left heart, Transposition of the great arteries, Interrupt...	ORPHA:1727
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome	Absent foveal reflex, Retinal dystrophy, Peripheral retinal atrophy	OMIM:615147
Central Diabetes Insipidus	Polydipsia, Nocturia, Anorexia	ORPHA:178029
Ciliary Dyskinesia, Primary, 39	Double outlet right ventricle, Dextrocardia	OMIM:618254
Fanconi Anemia, Complementation Group W	Hypoplasia of the radius, Renal hypoplasia, Polysplenia, Absent thumb	OMIM:617784
Stromme Syndrome	Accessory spleen, Bilateral renal hypoplasia, Hydronephrosis, Micrognathia	OMIM:243605
Retinitis Pigmentosa 2	Bull's eye maculopathy, Chorioretinal degeneration, Fundus atrophy, Pigmentary retinopathy, Rod-c...	OMIM:312600
Ciliary Dyskinesia, Primary, 1	Absent outer dynein arms, Nasal polyposis, Anosmia, Chronic rhinitis	OMIM:244400
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Pigmentary retinopathy, Proximal tubulopathy, Polyuria	OMIM:560000
Phenobarbital Embryopathy	Mandibular prognathia, Hypospadias, Aplasia/Hypoplasia of fingers, Abnormal mitral valve morpholo...	ORPHA:1919
Renal Coloboma Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Optic disc coloboma, Optic nerve dysplasia, Re...	ORPHA:1475
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Cryptorchidism, Anosmia, Azoospermia, Hyposmia, Testicular atrophy, Decreased testicular size	OMIM:308700
Cardiac Diverticulum	Bicuspid aortic valve, Bicuspid pulmonary valve, Pulmonary artery hypoplasia, Atrial septal defec...	ORPHA:1686
Congenital Heart Defects, Multiple Types, 2	Bicuspid aortic valve, Ventricular septal defect, Myxomatous mitral valve degeneration, Subvalvul...	OMIM:614980
Cone-Rod Dystrophy 8	Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Macular degeneration, Retinal arter...	OMIM:605549
Rhyns Syndrome	Multicystic kidney dysplasia, Rod-cone dystrophy, Nephronophthisis	ORPHA:140976
Retinitis Pigmentosa 83	Bone spicule pigmentation of the retina, Vitreous floaters, Asteroid hyalosis, Rod-cone dystrophy...	OMIM:618173
Hypomagnesemia 3, Renal	Recurrent urinary tract infections, Polyuria, Hypocitraturia, Renal magnesium wasting, Chronic ki...	OMIM:248250
Premature Ovarian Failure 20	Secondary amenorrhea, Female infertility	OMIM:619938
Spinocerebellar Ataxia 7	Macular degeneration, Optic atrophy, Pigmentary retinopathy	OMIM:164500
Oculocutaneous Albinism Type 1	Hypoplasia of the fovea, White eyelashes, White eyebrow, Blue irides, Depigmented fundus, Iris tr...	ORPHA:352731
Microcephaly-Cardiomyopathy Syndrome	Abnormality of retinal pigmentation	ORPHA:2515
Multiple Acyl-Coa Dehydrogenase Deficiency	Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Proximal tubulopathy, Ethylma...	OMIM:231680
Femoral-Facial Syndrome	Short femur, Micrognathia, Renal hypoplasia/aplasia, Long penis, Abnormal localization of kidney,...	ORPHA:1988
Fadd-Related Immunodeficiency	Pulmonary artery atresia, Ventricular septal defect, Hepatic fibrosis	ORPHA:306550
Renal Hypodysplasia/Aplasia 3	Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r...	OMIM:617805
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Hyperactivity, Aggressive behavior, Hydrocephalus, Optic atrophy, Abnormal repetitive mannerisms	OMIM:619470
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Optic disc pallor, Ectopic kidney, Cryptorchidism, Cystic renal dysplasia, Ventriculomegaly	OMIM:613730
Meckel Syndrome, Type 7	Multicystic kidney dysplasia, Multiple glomerular cysts, Portal hypertension, Situs inversus tota...	OMIM:267010
Cone-Rod Dystrophy 10	Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of...	OMIM:610283
Rubinstein-Taybi Syndrome 1	Micrognathia, Hypoplasia of the maxilla, Aortic isthmus hypoplasia, Hepatic hemangioma, Atrial se...	OMIM:180849
Retinitis Pigmentosa 49	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re...	OMIM:613756
Chromosome 15Q25 Deletion Syndrome	Macrocytic anemia, Ventricular septal defect, Dextrocardia, Coronary artery fistula, Abnormal car...	OMIM:614294
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement	Abnormality of retinal pigmentation, Macular coloboma, Chorioretinal coloboma	ORPHA:2196
Peroxisome Biogenesis Disorder 6A (Zellweger)	Colpocephaly, Renal cyst	OMIM:614870
Hypoplastic Left Heart Syndrome	Mitral atresia, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplastic left heart, Atrial...	ORPHA:2248
Retinitis Pigmentosa 51	Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of...	OMIM:613464
Spermatogenic Failure, X-Linked, 7	Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop...	OMIM:301106
Joubert Syndrome 6	Dilated fourth ventricle, Enlarged fossa interpeduncularis, Stage 5 chronic kidney disease, Nephr...	OMIM:610688
Premature Ovarian Failure 6	Streak ovary, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea, Primary ...	OMIM:612310
Joubert Syndrome 18	Ventricular septal defect, Renal cyst, Horseshoe kidney, Intrahepatic biliary atresia, Retrognathia	OMIM:614815
Isolated Follicle Stimulating Hormone Deficiency	Hyperplasia of the Leydig cells, Anosmia, Oligozoospermia, Azoospermia, Abnormal sperm morphology...	ORPHA:52901
Aplasia Cutis-Myopia Syndrome	Abnormality of retinal pigmentation	ORPHA:1117
Syndromic Diarrhea	Hepatomegaly, Lymphopenia, Ventricular septal defect, Bicuspid aortic valve, Hepatoblastoma, Incr...	ORPHA:84064
Eem Syndrome	Macular dystrophy, Abnormality of retinal pigmentation, Retinopathy	ORPHA:1897
Oculocutaneous Albinism Type 4	Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,...	ORPHA:79435
Senior-Boichis Syndrome	Polydipsia, Thickening of the tubular basement membrane, Aggressive behavior, Chronic kidney dise...	ORPHA:84081
Peroxisome Biogenesis Disorder 2A (Zellweger)	Intrahepatic biliary dysgenesis, Hepatomegaly, Micrognathia, Jaundice, Abnormal heart morphology,...	OMIM:214110
Whim Syndrome 2	Tetralogy of Fallot, Chronic neutropenia	OMIM:619407
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Cerebellar atrophy, Optic disc pallor, Macular atrophy, Hypoplasia of the pons, Optic atrophy, Ce...	OMIM:616171
Abetalipoproteinemia	Retinopathy, Retinal degeneration	OMIM:200100
Mucolipidosis Iv	Cerebellar atrophy, Optic atrophy, Retinal degeneration	OMIM:252650
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps	Renal insufficiency, Retinal arteriolar tortuosity, Retinal hemorrhage, Renal cyst, Hematuria	OMIM:611773
Cone-Rod Dystrophy 20	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina	OMIM:615973
Papillorenal Syndrome	Renal malrotation, Multicystic kidney dysplasia, Retinal detachment, Proteinuria, Morning glory a...	OMIM:120330
Testicular Anomalies With Or Without Congenital Heart Disease	Corpus cavernosum hypoplasia, Tetralogy of Fallot, Microphallus, Perineal hypospadias	OMIM:615542
Glutathione Synthetase Deficiency	Pigmentary retinopathy	OMIM:266130
Birdshot Chorioretinopathy	Retinal pigment epithelial atrophy, Abnormal chorioretinal morphology, Vitritis, Vitreous floaters	OMIM:605808
Aortic Valve Disease 1	Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou...	OMIM:109730
Peroxisome Biogenesis Disorder 1A (Zellweger)	Optic disc pallor, Hypospadias, Cryptorchidism, Subependymal cysts, Pigmentary retinopathy, Amino...	OMIM:214100
Atrial Septal Defect 6	Atrial septal defect	OMIM:613087
Kallmann Syndrome With Spastic Paraplegia	Cryptorchidism, Anosmia, Testicular atrophy	OMIM:308750
Scimitar Syndrome	Pulmonary artery hypoplasia, Atrial septal defect, Single ventricle, Patent ductus arteriosus, Pa...	ORPHA:185
Diabetic Embryopathy	Ventricular septal defect, Abnormality of the pancreas, Abnormal aortic morphology, Transposition...	ORPHA:1926
Bartter Syndrome, Type 3	Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Polyuria, Renal salt wasting,...	OMIM:607364
Retinitis Pigmentosa 43	Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Rod-cone dyst...	OMIM:613810
Stormorken Syndrome	Howell-Jolly bodies, Subarachnoid hemorrhage, Asplenia, Thrombocytopenia, Stroke-like episode, He...	OMIM:185070
Isochromosomy Yq	Male infertility, Azoospermia, Decreased testicular size	ORPHA:98798
Severe Early-Childhood-Onset Retinal Dystrophy	Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A...	ORPHA:364055
Peroxisome Biogenesis Disorder 8A (Zellweger)	Hepatomegaly, Jaundice, Ventricular septal defect	OMIM:614876
Septo-Optic Dysplasia Spectrum	Hypoplasia of penis, Septo-optic dysplasia, Optic nerve hypoplasia, Cryptorchidism, Polydipsia, A...	ORPHA:3157
Teratoma, Pineal	Polydipsia, Polyuria	OMIM:273120
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Overriding aorta, Micrognathia, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect...	ORPHA:3304
Jalili Syndrome	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro...	OMIM:217080
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Accessory spleen, Ventricular septal defect	OMIM:619306
Diprosopus	Abnormality of retinal pigmentation	ORPHA:1681
Johnson Neuroectodermal Syndrome	Bulbous nose, Anosmia, Choanal atresia	ORPHA:2316
Retinitis Pigmentosa 60	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R...	OMIM:613983
Ciliary Dyskinesia, Primary, 50	Male infertility, Reduced progressive sperm motility, Coiled sperm flagella, Short sperm flagella...	OMIM:620356
Cleidocranial Dysplasia, Recessive Form	Brachycephaly	OMIM:216330
Bardet-Biedl Syndrome 6	Pigmentary retinopathy, Rod-cone dystrophy, Hypospadias, Renal cyst	OMIM:605231
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Hydrocephalus, Retinal dysplasia, Ventriculomegaly	OMIM:614830
Retinitis Punctata Albescens	Retinal atrophy, Macular atrophy, Retinal pigment epithelial mottling, Absent foveal reflex, Pigm...	ORPHA:52427
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Recurrent urinary tract infections, Polycystic liver disease, Hepatic cysts,...	ORPHA:730
Kearns-Sayre Syndrome	Abnormality of retinal pigmentation	ORPHA:480
Reese Retinal Dysplasia	Remnants of the hyaloid vascular system, Retinal dysplasia	OMIM:266400
Right Pulmonary Artery, Anomalous Origin Of, Familial	Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ...	OMIM:610338
Optic Atrophy 8	Abnormality of pattern visual evoked potentials, Optic atrophy, Prolonged somatosensory evoked po...	OMIM:616648
Diencephalic Syndrome	Hydrocephalus, Long penis, Optic atrophy	ORPHA:1672
Kleine-Levin Syndrome	Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Agitatio...	ORPHA:33543
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)	Retinal degeneration	OMIM:616896
Peroxisome Biogenesis Disorder 5A (Zellweger)	Hypospadias, Cryptorchidism, Optic nerve dysplasia, Optic atrophy, Renal cyst, Pigmentary retinop...	OMIM:614866
Retinitis Pigmentosa 25	Optic disc pallor, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Rod-cone dystr...	OMIM:602772
Spermatogenic Failure 6	Male infertility, Decreased acrosin in sperm head, Globozoospermia	OMIM:102530
X-Linked Intellectual Disability-Plagiocephaly Syndrome	Plagiocephaly, Flat occiput, Brachycephaly, Bradycardia	ORPHA:2898
Nphp3-Related Meckel-Like Syndrome	Multicystic kidney dysplasia, Abnormality of the pancreas, Abnormal liver parenchyma morphology, ...	ORPHA:3032
Senior-Loken Syndrome	Abnormality of retinal pigmentation, Retinal dystrophy	ORPHA:3156
Spermatogenic Failure 38	Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility, Tapered sperm h...	OMIM:618433
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hydrocephalus, Chronic kidney disease, Nephronophthisis, Retinal degeneration, Ventriculomegaly	OMIM:615630
Carpenter Syndrome	Patent ductus arteriosus, Polysplenia	ORPHA:65759
Tetralogy Of Fallot And Glaucoma	Tetralogy of Fallot	OMIM:187501
Spermatogenic Failure 9	Male infertility, Globozoospermia	OMIM:613958
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Cerebellar dysplasia, Retinal detachment, Optic nerve hypoplasia, Hypoplasia of the pons, Hydroce...	OMIM:615181
Spermatogenic Failure 67	Male infertility, Globozoospermia	OMIM:619803
Spermatogenic Failure 68	Male infertility, Globozoospermia	OMIM:619805
Spermatogenic Failure 69	Male infertility, Globozoospermia	OMIM:619826
Spermatogenic Failure 66	Male infertility, Globozoospermia	OMIM:619799
Odontochondrodysplasia 1	Delayed eruption of teeth, Short metacarpal, Micromelia, Polycystic kidney dysplasia, Mesomelia, ...	OMIM:184260
Ring Chromosome Y Syndrome	Male infertility, Streak ovary, Unilateral cryptorchidism, Short stature, Female infertility, Cry...	ORPHA:261529
Transaldolase Deficiency	Thrombocytopenia, Hepatosplenomegaly, Biventricular hypertrophy, Coarctation of aorta, Cirrhosis,...	ORPHA:101028
Sjogren-Larsson Syndrome	Macular crystals, Retinal pigment epithelial atrophy, Retinal thinning, Macular degeneration, Mac...	OMIM:270200
Hydrolethalus Syndrome 1	Accessory spleen, Ventricular septal defect, Hypospadias, Micrognathia, Complete atrioventricular...	OMIM:236680
Mitochondrial Complex I Deficiency, Nuclear Type 39	Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Hypertrophic cardio...	OMIM:620135
Developmental And Epileptic Encephalopathy 36	Hydrocephalus, Optic atrophy, Self-mutilation	OMIM:300884
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Abnormal renal morphology, Ab...	ORPHA:477817
Structural Heart Defects And Renal Anomalies Syndrome	Renal insufficiency, Ventricular septal defect, Partial anomalous pulmonary venous return, Renal ...	OMIM:617478
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Ventriculomegaly, Abnormal repetitive mannerisms, Hydrocephalus, Attention deficit hyperactivity ...	OMIM:618709
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Patent foramen ovale, Transposition of the great arteries	OMIM:616789
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Mesenteric cyst, Ventricular septal defect, Hypospadias, Parachute mitral valve, Patent ductus ar...	OMIM:618316
Fried Syndrome	Hydrocephalus, Abnormal optic nerve morphology, Aggressive behavior	ORPHA:85335
Hydrocephalus, Congenital, 1	Hydrocephalus, Ventriculomegaly	OMIM:236600
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation	Atrial septal defect, Ventricular septal defect	OMIM:608227
Diabetes Insipidus, Nephrogenic, 2, Autosomal	Polydipsia, Megacystis, Polyuria	OMIM:125800
Leber Congenital Amaurosis 1	Pigmentary retinopathy, Fundus atrophy, Optic disc drusen, Attenuation of retinal blood vessels	OMIM:204000
Diabetes Insipidus, Nephrogenic, 1, X-Linked	Polydipsia, Megacystis, Polyuria	OMIM:304800
Fetal Minoxidil Syndrome	Ventricular septal defect	ORPHA:1918
Short Stature, Developmental Delay, And Congenital Heart Defects	Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect	OMIM:617044
Sjögren-Larsson Syndrome	Retinopathy, Macular degeneration, Generalized hyperpigmentation, Abnormality of retinal pigmenta...	ORPHA:816
Spermatogenic Failure 75	Male infertility, Non-obstructive azoospermia	OMIM:619949
Mosaic Trisomy 1	Renal cortical cysts, Renal cyst, Lateral ventricle dilatation, Micropenis, Penile hypospadias, A...	ORPHA:1692
Retinitis Pigmentosa 23	Rod-cone dystrophy, Retinal pigment epithelial atrophy, Absent foveal reflex, Attenuation of reti...	OMIM:300424
Venous Malformations, Multiple Cutaneous And Mucosal	Venous malformation	OMIM:600195
Immunodeficiency 47	Normocytic anemia, Accessory spleen, Hepatomegaly, Splenomegaly, Cholestasis, Leukopenia, Hepatic...	OMIM:300972
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Hypoplastic scapulae, Hypospadias, Micromelia, Renal hypoplasia, Renal cyst, Hepatic fibrosis, Sh...	OMIM:614091
Retinitis Pigmentosa 3	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Perifoveal hypoautofluorescence	OMIM:300029
8P23.1 Duplication Syndrome	Tetralogy of Fallot, Ventricular septal defect, Hydronephrosis, Pulmonic stenosis	ORPHA:251076
Nephrogenic Diabetes Insipidus	Renal insufficiency, Hydroureter, Anorexia, Functional abnormality of the bladder, Enuresis noctu...	ORPHA:223
Joubert Syndrome 7	Encephalocele, Retinal dystrophy, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis	OMIM:611560
Infantile Nephropathic Cystinosis	Hyperphosphaturia, Abnormal tubulointerstitial morphology, Renal tubular dysfunction, Glycosuria,...	ORPHA:411629
Prune Belly Syndrome	Multicystic kidney dysplasia, Recurrent urinary tract infections, Ventricular septal defect, Rena...	ORPHA:2970
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Polycystic liver disease, Renal cyst	OMIM:174050
Isolated Splenogonadal Fusion	Abnormal penis morphology, Ectopia of the spleen, Polysplenia	ORPHA:457083
Congenital Anomalies Of Kidney And Urinary Tract 3	Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr...	OMIM:618270
Roberts-Sc Phocomelia Syndrome	Accessory spleen, Hypoplasia of the ulna, Short humerus, Ventricular septal defect, Hypospadias, ...	OMIM:268300
Holoprosencephaly 11	Polysplenia	OMIM:614226
Heimler Syndrome 1	Macular dystrophy, Retinal pigment epithelial mottling	OMIM:234580
Fetal Encasement Syndrome	Upper limb undergrowth, Horseshoe kidney, Increased urinary 8-oxo-7,8-dihydroguanosine level, Low...	OMIM:613630
Hypoplastic Left Heart Syndrome 2	Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia	OMIM:614435
Jalili Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:1873
Atrial Septal Defect 5	Secundum atrial septal defect	OMIM:612794
Atrial Septal Defect 3	Secundum atrial septal defect	OMIM:614089
Exudative Vitreoretinopathy 6	Retinal detachment, Tractional retinal detachment, Patchy atrophy of the retinal pigment epitheli...	OMIM:616468
Acrocephalopolydactylous Dysplasia	Hepatomegaly, Pancreatic fibrosis, Micromelia, Hepatic fibrosis, Polysplenia, Cystic renal dyspla...	OMIM:200995
Fanconi Anemia, Complementation Group O	Absent thumb, Short thumb, Hypoplasia of the radius, Stage 5 chronic kidney disease, Renal cyst, ...	OMIM:613390
Polysyndactyly With Cardiac Malformation	Atrial septal defect, Ventricular septal defect, Hepatic cysts, Renal cyst	OMIM:263630
Heart Defects, Congenital, And Other Congenital Anomalies	Absent gallbladder, Double outlet left ventricle, Ventricular septal defect, Patent foramen ovale...	OMIM:600001
Cone-Rod Dystrophy 2	Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Retinal pigment epithelial atro...	OMIM:120970
Cystinosis, Nephropathic	Renal insufficiency, Hyperphosphaturia, Proteinuria, Polyuria, Oral-pharyngeal dysphagia, Retinal...	OMIM:219800
Transketolase Deficiency	Increased level of ribose in urine, Hepatomegaly, Ventricular septal defect, Abnormal coronary ar...	ORPHA:488618
Hypotrichosis With Juvenile Macular Degeneration	Macular degeneration, Freckling, Abnormality of macular pigmentation, Melanocytic nevus	ORPHA:1573
Refsum Disease, Classic	Anosmia	OMIM:266500
Senior-Loken Syndrome 9	Retinal dystrophy, Stage 5 chronic kidney disease, Tubulointerstitial nephritis, Macular degenera...	OMIM:616629
Leber Congenital Amaurosis	Abnormality of retinal pigmentation, Abnormal optic disc morphology	ORPHA:65
Formiminoglutamic Aciduria	Atrial septal defect, Anemia, Megaloblastic anemia	ORPHA:51208
Congenital Pulmonary Valvar Stenosis	Atrial septal defect	ORPHA:3189
Late-Onset Retinal Degeneration	Multifocal subretinal deposits, Choroidal neovascularization, Macular atrophy, Drusen, Patchy atr...	ORPHA:67042
Verheij Syndrome	Renal agenesis, Ventricular septal defect, Renal hypoplasia, Renal cyst, Short 5th finger, Truncu...	OMIM:615583
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy	Anosmia	OMIM:601152
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Renal dysplasia, Ureteral duplication, Renal insufficiency, Hepatomegaly, Long-chain dicarboxylic...	OMIM:608836
Retinal Cone Dystrophy 3B	Cone/cone-rod dystrophy, Macular atrophy	OMIM:610356
Meckel Syndrome 14	Microretrognathia, Micrognathia, Hepatic fibrosis, Polycystic kidney dysplasia, Retrognathia, Sin...	OMIM:619879
Congenital Alveolar Capillary Dysplasia	Absent gallbladder, Bicuspid aortic valve, Ventricular septal defect, Asplenia, Patent ductus art...	ORPHA:210122
Kufor-Rakeb Syndrome	Hyposmia, Anosmia	OMIM:606693
Feingold Syndrome Type 2	Ventricular septal defect	ORPHA:391646
Phelan-Mcdermid Syndrome	Ventricular septal defect, Abnormality of the kidney, Micrognathia, Patent ductus arteriosus, Den...	OMIM:606232
1Q21.1 Microduplication Syndrome	Cryptorchidism, Hydrocephalus, Hypospadias, Attention deficit hyperactivity disorder	ORPHA:250994
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Cardiomegaly, Red-brown urine, Renal tu...	ORPHA:228308
Laurence-Moon Syndrome	Pigmentary retinopathy, Chorioretinal atrophy	OMIM:245800
East Syndrome	Salt craving, Renal salt wasting, Renal magnesium wasting, Enuresis, Abnormal urinary electrolyte...	ORPHA:199343
Cranioectodermal Dysplasia 2	Hepatomegaly, Renal insufficiency, Rhizomelia, Cholangitis, Micrognathia, Splenomegaly, Patent du...	OMIM:613610
46,Xx Sex Reversal 5	Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect	OMIM:618901
Ventricular Septal Defect 2	Perimembranous ventricular septal defect	OMIM:614431
Thiamine-Responsive Megaloblastic Anemia Syndrome	Sideroblastic anemia, Ventricular septal defect, Situs inversus totalis, Thiamine-responsive mega...	OMIM:249270
Adams-Oliver Syndrome 6	Ventricular septal defect, Portal hypertension, Splenomegaly, Renal hypoplasia, Hepatic fibrosis,...	OMIM:616589
Peroxisomal Acyl-Coa Oxidase Deficiency	Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy	OMIM:264470
Carnitine Palmitoyltransferase Ii Deficiency	Hepatomegaly, Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial necrosis,...	ORPHA:157
Methylmalonic Acidemia With Homocystinuria	Hydrocephalus, Retinopathy	ORPHA:26
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy	Atrial septal defect, Ventricular septal defect, Pulmonic stenosis	OMIM:614262
Chromosome 8Q12.1-Q21.2 Deletion Syndrome	Hydrocephalus	OMIM:600257
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation	Ventricular septal defect	OMIM:209770
Hsd10 Disease, Infantile Type	Restlessness, Retinal degeneration, Optic atrophy, Increased CSF lactate, Dysphagia, Abnormal con...	ORPHA:391428
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal salt wasting, I...	OMIM:602522
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive	Macrocytic anemia, Macrocytic dyserythropoietic anemia	OMIM:619789
Myoectodermal Gonadal Dysgenesis Syndrome	Accessory spleen, Unilateral renal agenesis, Short palm	OMIM:618419
Cardiomyopathy, Dilated, 2H	Secundum atrial septal defect, Muscular ventricular septal defect	OMIM:620203
Maternal Phenylketonuria	Ventricular septal defect, Micrognathia, Abnormal renal morphology, Abnormal heart morphology, Co...	ORPHA:2209
Developmental And Epileptic Encephalopathy 28	Optic atrophy, Retinal degeneration	OMIM:616211
Catel-Manzke Syndrome	Atrial septal defect, Ventricular septal defect	ORPHA:1388
Joubert Syndrome 28	Optic disc pallor, Pigmentary retinopathy	OMIM:617121
Scheie Syndrome	Retinal degeneration	OMIM:607016
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Abnormality of retinal pigmentation	ORPHA:397951
Azoospermia, Obstructive, With Nephrolithiasis	Male infertility, Obstructive azoospermia	OMIM:301060
Multiple Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Acute pancreatitis, Glutaric aciduria, Lacticaciduria, Abnormal heart morphology, C...	ORPHA:26791
Bardet-Biedl Syndrome 19	Renal insufficiency, Ventricular septal defect, Partial atrioventricular canal defect, Patent duc...	OMIM:615996
Renpenning Syndrome	Mandibular prognathia, Malar flattening, Heterotaxy, Hypospadias	ORPHA:3242
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Duplicated collecting system, Hepatomegaly, Ventricular septal defect, Hypospadias, Vesicouretera...	OMIM:301056
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	Hydrocephalus, Ventriculomegaly	OMIM:615938
Megalencephaly, Autosomal Dominant	Hydrocephalus	OMIM:155350
Diamond-Blackfan Anemia 6	Ventricular hypertrophy, Macrocytic anemia, Ventricular septal defect, Patent ductus arteriosus, ...	OMIM:612561
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii	Atrial septal defect	OMIM:113301
Congenital Hydrocephalus	Hydrocephalus, Optic atrophy, Colpocephaly, Macular hypoplasia, Ventriculomegaly	ORPHA:2185
Alport Syndrome	Mesangial hypercellularity, Macular degeneration, Nephritis, Tubulointerstitial fibrosis, Glomeru...	ORPHA:63
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities	Secundum atrial septal defect, Pulmonic stenosis	OMIM:178650
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Hydrocephalus	ORPHA:2807
Xk Aprosencephaly Syndrome	Atrial septal defect, Ventricular septal defect	ORPHA:3469
Congenital Megacalycosis	Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne...	ORPHA:93109
Bardet-Biedl Syndrome 3	Pigmentary retinopathy, Rod-cone dystrophy	OMIM:600151
Hyperaldosteronism, Familial, Type Iii	Hypercalciuria, Polydipsia, Polyuria	OMIM:613677
Primary Non-Essential Cutis Verticis Gyrata	Atrial septal defect, Ventricular septal defect	ORPHA:357225
Retinitis Pigmentosa 14	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal arteriolar constriction, Rod-...	OMIM:600132
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Occipital encephalocele, Hydrocephalus, Retinal dysplasia, Ventriculomegaly	ORPHA:324416
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect	Ventricular septal defect	OMIM:235750
Cone-Rod Dystrophy And Hearing Loss 1	Macular degeneration, Retinal atrophy	OMIM:617236
Spermatogenic Failure 15	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:616950
Asthma, Nasal Polyps, And Aspirin Intolerance	Nasal polyposis	OMIM:208550
Spastic Paraplegia 15, Autosomal Recessive	Urinary incontinence, Urinary urgency, Macular degeneration, Urinary bladder sphincter dysfunctio...	OMIM:270700
Peroxisome Biogenesis Disorder 12A (Zellweger)	Prominence of the premaxilla, Patent ductus arteriosus, Renal tubular dysfunction, Atrial septal ...	OMIM:614886
Acquired Central Diabetes Insipidus	Pollakisuria, Polydipsia	ORPHA:95626
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Heterochromia iridis	ORPHA:1390
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis	Hemolytic anemia, Elliptocytosis, Anemia of inadequate production	OMIM:166910
Cofs Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:1466
8P23.1 Microdeletion Syndrome	Patent ductus arteriosus, Pulmonary artery stenosis, Hypertrophic cardiomyopathy, Abnormal cardia...	ORPHA:251071
Feingold Syndrome 2	Ventricular septal defect	OMIM:614326
Ring Chromosome 14 Syndrome	Pigmentary retinopathy	OMIM:616606
Congenital Myopathy 11	Atrial septal defect, Patent ductus arteriosus, Patent foramen ovale	OMIM:619967
Iron-Refractory Iron Deficiency Anemia	Poikilocytosis, Hypochromic microcytic anemia, Anisocytosis	OMIM:206200
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Cerebellar atrophy, Optic disc pallor, Macular coloboma, Macular atrophy, Geographic atrophy, Cer...	OMIM:619260
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Nephrocalcinosis, Polyuria	OMIM:620152
Waardenburg-Shah Syndrome	Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ag...	ORPHA:897
Pineocytoma	Hydrocephalus, Increased CSF protein concentration	ORPHA:251912
Atrial Septal Defect 9	Secundum atrial septal defect, Bicuspid aortic valve	OMIM:614475
Myopia 3, Autosomal Dominant	Retinal detachment	OMIM:603221
Myopia 2, Autosomal Dominant	Retinal detachment	OMIM:160700
Myopia 5, Autosomal Dominant	Retinal detachment	OMIM:608474
Myopia 25, Autosomal Dominant	Retinal detachment	OMIM:617238
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2	Hydrocephalus, Ventriculomegaly	OMIM:615937
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Micromelia, Micrognathia, Missing ribs, Short ribs, Polycystic kidney dysplasia, Hyperechogenic k...	OMIM:617866
Distal Renal Tubular Acidosis	Hyperphosphaturia, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinosis,...	ORPHA:18
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Abnormality of the tonsils, Secundum atrial septal defect, Decreased proportion of CD8-positive T...	OMIM:611926
Dohle Bodies And Leukemia	Secundum atrial septal defect, Leukocyte inclusion bodies, Acute myeloid leukemia, Anemia	OMIM:223350
Spherocytosis, Type 3	Hemolytic anemia, Spherocytosis	OMIM:270970
Ataxia With Vitamin E Deficiency	Abnormality of visual evoked potentials, Abnormality of retinal pigmentation	ORPHA:96
Grange Syndrome	Patent ductus arteriosus, Ventricular septal defect, Arterial stenosis	ORPHA:79094
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, Pe...	ORPHA:232
Retinal Dystrophy And Iris Coloboma With Or Without Cataract	Retinal atrophy	OMIM:616722
Spermatogenic Failure 2	Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia	OMIM:108420
Senior-Loken Syndrome 6	Rod-cone dystrophy, Stage 5 chronic kidney disease	OMIM:610189
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Renal agenesis, H...	ORPHA:93111
Say Syndrome	Short distal phalanx of finger, Micrognathia, Proximal renal tubular acidosis, Cystic renal dyspl...	OMIM:181180
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis	Renal angiomyolipoma, Polycystic kidney dysplasia	OMIM:600273
Craniofacial Conodysplasia	Hydrocephalus	ORPHA:85168
Oculocutaneous Albinism Type 1B	Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,...	ORPHA:79434
Tricho-Retino-Dento-Digital Syndrome	Abnormality of retinal pigmentation	ORPHA:1264
Retinitis Pigmentosa 72	Optic disc pallor, Bone spicule pigmentation of the retina, Peripapillary atrophy, Rod-cone dystr...	OMIM:616469
Craniotelencephalic Dysplasia	Septo-optic dysplasia, Hydrocephalus, Frontal encephalocele, Optic atrophy, Agenesis of corpus ca...	ORPHA:1528
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Salt craving, Polyuria, Renal salt wasting, Enuresis, Hypocalciuria, Renal sodium wasting, Polydi...	OMIM:612780
Helix Syndrome	Renal insufficiency, Polyuria, Nephrolithiasis, Hypocalciuria, Polydipsia	OMIM:617671
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Double outlet left ventricle, Ventricular septal defect, Patent foramen ovale, Congenital defect ...	ORPHA:2255
Weiss-Kruszka Syndrome	Left ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Dextrotranspositi...	OMIM:618619
Meckel Syndrome, Type 9	Limb undergrowth, Multicystic kidney dysplasia	OMIM:614209
Blepharoptosis-Myopia-Ectopia Lentis Syndrome	Abnormality of retinal pigmentation	ORPHA:1259
Oculocutaneous Albinism Type 2	Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, White eye...	ORPHA:79432
Nemaline Myopathy 9	Ventricular septal defect	OMIM:615731
Simpson-Golabi-Behmel Syndrome	Mandibular prognathia, Ureteral duplication, Hypoplasia of penis, Multicystic kidney dysplasia, V...	ORPHA:373
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome	Carious teeth, Multicystic kidney dysplasia	ORPHA:3270
Blindness-Scoliosis-Arachnodactyly Syndrome	Retinal detachment, Abnormality of retinal pigmentation	ORPHA:171844
Chromosome 15Q14 Deletion Syndrome	Atrial septal defect, Ventricular septal defect	OMIM:616898
Choroidal Atrophy-Alopecia Syndrome	Abnormality of retinal pigmentation, Patchy atrophy of the retinal pigment epithelium	ORPHA:1433
Caroli Disease	Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c...	ORPHA:53035
Left Ventricular Noncompaction 1	Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricular noncompaction cardiomyo...	OMIM:604169
Li-Campeau Syndrome	Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale	OMIM:619189
Ceroid Lipofuscinosis, Neuronal, 10	Cerebellar atrophy, Rod-cone dystrophy, Retinal atrophy	OMIM:610127
Enhanced S-Cone Syndrome	Pigmentary retinopathy, Retinoschisis, Vitreoretinopathy, Macular edema	OMIM:268100
Congenital Total Pulmonary Venous Return Anomaly	Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca...	ORPHA:99125
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Perimembranous ventricular septal defect, Transposition of the great arteries, Pulmonic stenosis	OMIM:617877
Diamond-Blackfan Anemia 4	Macrocytic anemia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Atrial septal defect	OMIM:612527
Myopia 28, Autosomal Recessive	Retinal detachment	OMIM:619781
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome	Renal agenesis, Ventricular septal defect, Renal hypoplasia/aplasia, Micrognathia, Abnormal aorti...	ORPHA:2516
Joubert Syndrome 35	Multicystic kidney dysplasia, Recurrent urinary tract infections, Renal fibrosis, Rod-cone dystro...	OMIM:618161
Narp Syndrome	Retinal arteriolar tortuosity, Retinal pigment epithelial mottling, Rod-cone dystrophy, Optic dis...	ORPHA:644
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities	Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Cerebellar dysplasia	OMIM:616531
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome	Multicystic kidney dysplasia	ORPHA:2091
C Syndrome	Cryptorchidism, Renal cortical cysts	OMIM:211750
Coach Syndrome 1	Hepatomegaly, Unilateral renal agenesis, Portal hypertension, Splenomegaly, Multiple small medull...	OMIM:216360
Refsum Disease	Anosmia	ORPHA:773
Hereditary Central Diabetes Insipidus	Polydipsia	ORPHA:30925
Autosomal Recessive Polycystic Kidney Disease	Cholangitis, Micrognathia, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepat...	ORPHA:731
Ovarian Dysgenesis 3	Primary amenorrhea, Female infertility, Delayed puberty	OMIM:614324
Wolfram Syndrome	Recurrent urinary tract infections, Dysuria, Optic atrophy, Abnormality of the urinary system, Ab...	ORPHA:3463
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome	Undetectable visual evoked potentials, Patchy atrophy of the retinal pigment epithelium, Rod-cone...	ORPHA:436245
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Truncus arteriosus, Ventricular septal defect, Unilateral renal agenesis, Short distal phalanx of...	OMIM:601355
Acute Zonal Occult Outer Retinopathy	Macular drusen, Retinal pigment epithelial atrophy, Abnormal retinal vascular morphology, Retinal...	ORPHA:284454
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Hepatitis, Renal cyst, Cholest...	OMIM:610199
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Ventricular septal defect, Dextrotransposition of the great arteries	OMIM:619995
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Cryptorchidism, Anosmia, Single naris, Absent nares, Hyposmia	ORPHA:2250
Hadziselimovic Syndrome	Ventricular hypertrophy, Ventricular septal defect, Atrial septal defect, Tetralogy of Fallot, Pu...	OMIM:612946
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome	Abnormality of retinal pigmentation	ORPHA:2521
Fryns Syndrome	Microretrognathia, Ureteral duplication, Ectopic pancreatic tissue, Hypospadias, Ventricular sept...	OMIM:229850
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4	Vesicoureteral reflux, Ventriculomegaly, Renal cortical cysts	OMIM:618548
Retinitis Pigmentosa 37	Pigmentary retinopathy, Rod-cone dystrophy, Cystoid macular degeneration	OMIM:611131
Birt-Hogg-Dubé Syndrome	Abnormality of retinal pigmentation	ORPHA:122
Bone Marrow Failure Syndrome 6	Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia	OMIM:618849
Diamond-Blackfan Anemia 12	Macrocytic anemia, Ventricular septal defect, Reticulocytopenia, Normochromic anemia	OMIM:615550
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Hydrocephalus, Agenesis of corpus callosum	OMIM:166990
Orofaciodigital Syndrome I	Microretrognathia, Proteinuria, Vascular dilatation, Pancreatic cysts, Supernumerary tooth, Cario...	OMIM:311200
Cardiomyopathy, Dilated, 2D	Perinuclear cardiomyocyte vacuolization, Muscular ventricular septal defect, Dilated cardiomyopat...	OMIM:619371
Trisomy X	Multicystic kidney dysplasia, Attention deficit hyperactivity disorder, Renal hypoplasia/aplasia	ORPHA:3375
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome	Hydrocephalus	ORPHA:2703
Pyropoikilocytosis, Hereditary	Pyropoikilocytosis, Hemolytic anemia, Microspherocytosis, Elliptocytosis	OMIM:266140
Coloboma Of Optic Nerve	Retinal detachment, Optic disc coloboma	OMIM:120430
Mmep Syndrome	Ventricular septal defect	ORPHA:3434
Retinitis Pigmentosa 75	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:617023
Vitreoretinochoroidopathy	Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re...	OMIM:193220
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature	Varicose veins, Patent ductus arteriosus, Ventricular septal defect, Peripheral arterial stenosis	OMIM:126320
Global Developmental Delay With Or Without Impaired Intellectual Development	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:618330
Retinitis Pigmentosa 66	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:615233
Aortic Arch Interruption	Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Aortic valve atresia,...	ORPHA:2299
Mirage Syndrome	Recurrent urinary tract infections, Hypospadias, Thrombocytopenia, Patent ductus arteriosus, Intr...	OMIM:617053
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome	Macular degeneration, Choroidal neovascularization	ORPHA:404451
Senior-Loken Syndrome 8	Global glomerulosclerosis, Retinal dystrophy, Glomerular subepithelial immune-complex deposits, M...	OMIM:616307
Thiamine-Responsive Megaloblastic Anemia Syndrome	Ventricular septal defect, Megaloblastic anemia, Stroke, Atrial septal defect, Thrombocytopenia	ORPHA:49827
Alg6-Cdg	Rod-cone dystrophy, Cerebellar hypoplasia, Retinal degeneration	ORPHA:79320
Femoral-Facial Syndrome	Short third metatarsal, Short humerus, Short fourth metatarsal, Short fifth metatarsal, Renal age...	OMIM:134780
Adenine Phosphoribosyltransferase Deficiency	Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Dysuria, Chronic kidney dis...	ORPHA:976
Hyperparathyroidism, Neonatal Severe	Hyperphosphaturia, Polyuria, Hypercalciuria, Aminoaciduria, Polydipsia	OMIM:239200
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome	Failure to thrive, Premature ovarian insufficiency, Short stature, Female infertility	OMIM:619518
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly	Complete atrioventricular canal defect, Coarctation of aorta, Subvalvular aortic stenosis	OMIM:217085
22Q11.2 Deletion Syndrome	Micrognathia, Abnormal aortic arch morphology, Hypoplasia of the thymus, Vesicoureteral reflux, A...	ORPHA:567
Floating-Harbor Syndrome	Hypoplasia of the maxilla, Renal cyst, Nephrocalcinosis, Atrial septal defect, Mesocardia, Short ...	ORPHA:2044
Xeroderma Pigmentosum, Complementation Group G	Defective DNA repair after ultraviolet radiation damage	OMIM:278780
Coenzyme Q10 Deficiency, Primary, 7	Patent ductus arteriosus, Ventricular septal defect, Hypertrophic cardiomyopathy, Hypoplastic lef...	OMIM:616276
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome	Atrial septal defect	ORPHA:52056
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Short metacarpal, Ventricular septal defect, Micrognathia, Renal cyst, Horseshoe kidney, Abnormal...	ORPHA:166035
Alpha-Methylacyl-Coa Racemase Deficiency	Pigmentary retinopathy, Rod-cone dystrophy	OMIM:614307
Wolf-Hirschhorn Syndrome	Accessory spleen, Ventricular septal defect, Hypospadias, Short hallux, Micrognathia, Short thumb...	OMIM:194190
Wolcott-Rallison Syndrome	Hepatomegaly, Renal insufficiency, Jaundice, Chronic kidney disease, Iron deficiency anemia, Abno...	ORPHA:1667
Retinitis Pigmentosa	Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Optic atrophy	ORPHA:791
Caroli Syndrome	Hepatomegaly, Cholangiocarcinoma, Liver abscess, Abnormality of the kidney, Cholangitis, Portal h...	ORPHA:480520
Autosomal Dominant Optic Atrophy Plus Syndrome	Absent brainstem auditory responses, Optic atrophy, Abnormal retinal nerve fiber layer morphology...	ORPHA:1215
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Cerebellar vermis hypoplasia, Retinal dystrophy, Hydrocephalus, Cerebellar hypoplasia, Cerebellar...	OMIM:613155
Ovalocytosis, Southeast Asian	Hemolytic anemia, Elliptocytosis	OMIM:166900
Exudative Vitreoretinopathy 1	Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin...	OMIM:133780
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con...	OMIM:301083
Coach Syndrome 2	Hyperechogenic kidneys, Agenesis of corpus callosum, Hydrocephalus, Chorioretinal coloboma	OMIM:619111
Proteus Syndrome	Splenomegaly, Facial hyperostosis, Lymphangioma, Mandibular hyperostosis, Venous malformation	OMIM:176920
Hajdu-Cheney Syndrome	Hypospadias, Ventricular septal defect, Micrognathia, Absent frontal sinuses, Patent ductus arter...	OMIM:102500
2,4-Dienoyl-Coa Reductase Deficiency	Hydrocephalus, Optic atrophy, Increased CSF lactate, Colpocephaly, Hyperlysinuria, Increased CSF ...	OMIM:616034
Bilateral Frontoparietal Polymicrogyria	Hypoplasia of the pons, Abnormal cerebellum morphology, Cerebellar vermis hypoplasia, Cerebellar ...	ORPHA:101070
Developmental And Epileptic Encephalopathy 102	Atrial septal defect, Hepatomegaly, Situs inversus totalis	OMIM:619881
15Q11.2 Microdeletion Syndrome	Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Total anomalous pulmo...	ORPHA:261183
Hypobetalipoproteinemia, Familial, 1	Rod-cone dystrophy, Retinal degeneration	OMIM:615558
Retinal Dystrophy With Or Without Macular Staphyloma	Retinal pigment epithelial mottling, Bone spicule pigmentation of the retina, Retinal dystrophy, ...	OMIM:617547
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Cryptorchidism, Hydrocephalus, Rod-cone dystrophy, Retinal coloboma	OMIM:601794
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Proteinuria, Polyuria, Renal salt wasting, Chronic kidney disease, Hyperechogenic kidneys	OMIM:613845
Beaulieu-Boycott-Innes Syndrome	Recurrent urinary tract infections, Ventricular septal defect, Unilateral renal agenesis, Microgn...	OMIM:613680
Oculocutaneous Albinism Type 1A	Hypoplasia of the fovea, Hypopigmentation of hair, Albinism, Ocular albinism, Abnormal optic nerv...	ORPHA:79431
Hb Bart'S Hydrops Fetalis	Splenomegaly, Abnormal hemoglobin, Anemia	ORPHA:163596
Gitelman Syndrome	Salt craving, Polyuria, Renal magnesium wasting, Enuresis, Hypocalciuria, Polydipsia, Nocturia, R...	OMIM:263800
Aorta Coarctation	Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Patent ductus arteriosus, Hy...	ORPHA:1457
Spermatogenic Failure 77	Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia	OMIM:620103
Cardiomyopathy, Dilated, 1Oo	Atrial septal defect, Dilated cardiomyopathy	OMIM:620247
Kallmann Syndrome-Heart Disease Syndrome	Bilateral cryptorchidism, Decreased testicular size, Partial anosmia, Total anosmia	ORPHA:2326
Aortic Valve Disease 2	Bicuspid aortic valve, Calcification of the aorta, Aortic tortuosity, Coarctation of aorta, Ascen...	OMIM:614823
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Polydipsia, Nephrolithiasis	ORPHA:369929
Ciliary Dyskinesia, Primary, 20	Atrial situs inversus, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Pulmonary...	OMIM:615067
Cardiofacioneurodevelopmental Syndrome	Ventricular septal defect, Micrognathia, Asplenia, Abdominal situs inversus, Pulmonic stenosis, A...	OMIM:619123
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Multicystic kidney dysplasia, Meningocele, Renal cyst, Chorioretinal coloboma, Ventriculomegaly	ORPHA:2031
Bresek Syndrome	Renal dysplasia, Hypoplasia of the bladder, Aganglionic megacolon, Optic nerve hypoplasia, Crypto...	ORPHA:85284
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Abnormal aortic morphology, Ventricular septal defect, Abnormal tricuspid valve morphology, Anemia	ORPHA:3405
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume	OMIM:300946
Congenital Heart Defects, Multiple Types, 7	Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s...	OMIM:618780
Dextrocardia	Dextrocardia, Situs inversus totalis, Abnormality of the spleen, Abnormal renal morphology, Abnor...	ORPHA:1666
Ramon Syndrome	Abnormality of retinal pigmentation	ORPHA:3019
Vitreoretinopathy, Neovascular Inflammatory	Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po...	OMIM:193235
Spinocerebellar Ataxia Type 32	Male infertility, Azoospermia, Testicular atrophy	ORPHA:276183
Epidermal Nevus Syndrome	Polycystic kidney dysplasia, Aortic aneurysm	ORPHA:35125
10Q22.3Q23.3 Microduplication Syndrome	Microretrognathia, Tetralogy of Fallot, Hypospadias	ORPHA:276422
Transaldolase Deficiency	Hepatomegaly, Pancytopenia, Ventricular septal defect, Thrombocytopenia, Micronodular cirrhosis, ...	OMIM:606003
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Ventricular septal defect, Pancreatic fibrosis, Disproportionate shortening of the tibia, Hepatic...	OMIM:263520
Atypical Teratoid Rhabdoid Tumor	Hydrocephalus	ORPHA:99966
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Crossed fused renal ectopia, Ventricular septal defect, Hypoplastic right heart, Unilateral renal...	OMIM:618142
Congenital Rubella Syndrome	Hepatomegaly, Ventricular septal defect, Splenomegaly, Jaundice, Patent ductus arteriosus, Anemia...	ORPHA:290
Juvenile Neuronal Ceroid Lipofuscinosis	Optic disc pallor, Pigmentary retinopathy, Retinal degeneration	ORPHA:79264
Branchiootorenal Syndrome 1	Renal malrotation, Unilateral renal agenesis, Renal steatosis, Polycystic kidney dysplasia, Vesic...	OMIM:113650
Hyperparathyroidism-Jaw Tumor Syndrome	Renal insufficiency, Polydipsia, Renal hamartoma, Testicular neoplasm, Nephrolithiasis, Renal cys...	ORPHA:99880
Familial Cold Urticaria	Polydipsia	ORPHA:47045
Gorlin Syndrome	Cryptorchidism, Wide nasal bridge, Abnormality of the sense of smell	ORPHA:377
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Polycythemia	OMIM:250800
Polycystic Liver Disease 4 With Or Without Kidney Cysts	Renal cyst, Hepatic cysts	OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts	Renal cyst, Hepatic cysts	OMIM:617874
Aceruloplasminemia	Retinal degeneration	OMIM:604290
Idiopathic Steroid-Resistant Nephrotic Syndrome	Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Stage 5...	ORPHA:567548
Neurodegeneration With Brain Iron Accumulation 2A	Cerebellar atrophy, Decreased nerve conduction velocity, Optic atrophy, Cerebral atrophy, Neurode...	OMIM:256600
Joubert Syndrome 39	Hypoplastic left heart, Polycystic kidney dysplasia	OMIM:619562
Simpson-Golabi-Behmel Syndrome, Type 1	Mandibular prognathia, Renal cyst, Short palm, Hepatoblastoma, Atrial septal defect, Hepatomegaly...	OMIM:312870
Bietti Crystalline Corneoretinal Dystrophy	Chorioretinal atrophy, Retinal degeneration	OMIM:210370
Amelogenesis Imperfecta, Type Ig	Renal insufficiency, Polyuria, Impaired renal concentrating ability, Nephrocalcinosis, Enuresis	OMIM:204690
Juvenile Nephropathic Cystinosis	Renal insufficiency, Proteinuria, Chronic kidney disease, Abnormal urine potassium concentration,...	ORPHA:411634
Intellectual Developmental Disorder, Autosomal Recessive 73	Patent ductus arteriosus, Ventricular septal defect	OMIM:619717
Kallmann Syndrome	Hyposmia, Cryptorchidism, Anosmia, Decreased testicular size	ORPHA:478
Juvenile Paget Disease	Abnormality of retinal pigmentation, Optic atrophy, Melanocytic nevus	ORPHA:2801
Parathyroid Carcinoma	Renal insufficiency, Polydipsia, Renal hamartoma, Testicular neoplasm, Nephrolithiasis, Renal cys...	ORPHA:143
Distal Deletion 12Q	Ectopic kidney, Micrognathia, Patent ductus arteriosus, Supernumerary tooth, Biliary atresia, Ann...	ORPHA:96149
Erythrocytosis, Familial, 3	Increased red blood cell mass, Increased hematocrit, Increased hemoglobin	OMIM:609820
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Cerebellar dysplasia, Retinal detachment, Agenesis of cerebellar vermis, Hypoplasia of the pons, ...	OMIM:613153
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Occipital encephalocele, Hydrocephalus, Optic atrophy	ORPHA:352682
Xfe Progeroid Syndrome	Renal insufficiency, Proteinuria, Optic atrophy, Defective DNA repair after ultraviolet radiation...	OMIM:610965
14Q24.1Q24.3 Microdeletion Syndrome	Ventricular septal defect, Abnormal heart morphology, Atrial septal defect, Truncus arteriosus, P...	ORPHA:401935
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Hepatomegaly, Recurrent urinary tract infections, Ventricular septal defect, Splenomegaly, Coarct...	OMIM:620210
Familial Hyperaldosteronism Type Iii	Polydipsia, Hypercalciuria	ORPHA:251274
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Hypoplasia of the ulna, Hypoplasia of penis, Ventricular septal defect, Micrognathia, Aplasia/Hyp...	ORPHA:2256
Axial Mesodermal Dysplasia Spectrum	Renal hypoplasia/aplasia, Micrognathia, Abnormality of the spleen, Missing ribs, Abnormality of t...	ORPHA:1834
Cryohydrocytosis	Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis	OMIM:185020
Ventriculomegaly With Cystic Kidney Disease	Renal insufficiency, Ventricular septal defect, Tubular luminal dilatation, Renal corticomedullar...	OMIM:219730
Erythrocytosis, Familial, 7	Increased hematocrit, Polycythemia	OMIM:617981
Mitochondrial Complex I Deficiency, Nuclear Type 11	Pigmentary retinopathy	OMIM:618234
Gracile Bone Dysplasia	Asplenia, Micropenis, Hypoplastic spleen	OMIM:602361
Braddock-Carey Syndrome 1	Multicystic kidney dysplasia, Aortic valve prolapse, Ventricular septal defect, Small hand, Ename...	OMIM:619980
Cone-Rod Dystrophy 6	Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Chorioretinal ...	OMIM:601777
Asplenia, Isolated Congenital	Asplenia, Thrombocytosis, Howell-Jolly bodies	OMIM:271400
Neurooculocardiogenitourinary Syndrome	Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Atrial septal defect, Patent f...	OMIM:618652
8P11.2 Deletion Syndrome	Cryptorchidism, Anosmia, Azoospermia, Depressed nasal bridge	ORPHA:251066
Joubert Syndrome 1	Optic disc pallor, Hyperactivity, Enlarged fossa interpeduncularis, Retinal dystrophy, Aggressive...	OMIM:213300
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Ventricular septal defect, Bicuspid aortic valve, Mitral valve prolapse, Coarctation of aorta, Po...	ORPHA:371428
Rabson-Mendenhall Syndrome	Nephrocalcinosis, Polydipsia, Long penis, Retinopathy	ORPHA:769
3-Methylglutaconic Aciduria, Type Iv	Cerebellar dysplasia	OMIM:250951
Cerebellar Ataxia-Hypogonadism Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:1173
Congenital Disorder Of Glycosylation, Type Ib	Hepatomegaly, Renal cyst, Proximal tubulopathy, Hepatic fibrosis, Cirrhosis, Lymphangiectasis	OMIM:602579
Cystic Echinococcosis	Abnormal peritoneum morphology, Hepatomegaly, Eosinophilia, Peritoneal abscess, Abnormality of th...	ORPHA:400
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Li-Ghorbani-Weisz-Hubshman Syndrome	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:618974
Mosaic Trisomy 9	Hypoplasia of penis, Abnormal heart valve morphology, Ventricular septal defect, Dextrocardia, Mi...	ORPHA:99776
Thakker-Donnai Syndrome	Tetralogy of Fallot, Ventricular septal defect, Transposition of the great arteries	ORPHA:1780
Lambert Syndrome	Ventricular septal defect, Hypospadias, Jaundice, Cholestasis, Intrahepatic biliary atresia, Mala...	ORPHA:1296
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Retinopathy, Abnormality of retinal pigmentation, Abnormal chorioretinal morphology, Chorioretina...	ORPHA:5
Waardenburg Syndrome, Type 4C	Cryptorchidism, Anosmia	OMIM:613266
Beckwith-Wiedemann Syndrome	Cryptorchidism, Nephrolithiasis, Renal cortical cysts, Nephrocalcinosis, Vesicoureteral reflux, N...	OMIM:130650
Cystic Hamartoma Of Lung And Kidney	Multicystic kidney dysplasia	ORPHA:2111
Ciliary Dyskinesia With Defective Radial Spokes	Nasal polyposis, Absent respiratory ciliary axoneme radial spokes, Chronic rhinitis	OMIM:242670
Ververi-Brady Syndrome	Transposition of the great arteries	OMIM:617982
Kleefstra Syndrome	Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of penis, Renal insufficiency, Ventr...	ORPHA:261494
Beta-Thalassemia	Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Anemia, Thrombocytopenia	ORPHA:848
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Cryptorchidism, Anosmia	OMIM:619718
Bardet-Biedl Syndrome 14	Renal insufficiency, Rod-cone dystrophy	OMIM:615991
Retinitis Pigmentosa And Erythrocytic Microcytosis	Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Epiretinal membrane, Phot...	OMIM:616959
Proximal Renal Tubular Acidosis	Hyperphosphaturia, Bicarbonaturia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis, H...	ORPHA:47159
Ventriculomegaly With Defects Of The Radius And Kidney	Ureteral duplication, Renal agenesis, Ectopic kidney, Hydrocephalus, Horseshoe kidney, Lateral ve...	OMIM:602200
Erythrocytosis, Familial, 6	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617980
Bardet-Biedl Syndrome	Hypoplasia of penis, Multicystic kidney dysplasia, Cryptorchidism, Nephrotic syndrome, Pigmentary...	ORPHA:110
Marcus-Gunn Syndrome	Choanal atresia, Abnormality of the sense of smell	ORPHA:91412
Multiple Sulfatase Deficiency	Hydrocephalus, Mucopolysacchariduria, Retinal degeneration, Increased CSF protein concentration, ...	OMIM:272200
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Retinal pigment epithelial mottling, Retinopathy	OMIM:219900
Bartter Syndrome, Type 5, Antenatal, Transient	Hypercalciuria, Medullary nephrocalcinosis, Polyuria	OMIM:300971
Meckel Syndrome, Type 4	Atrial septal defect, Bile duct proliferation, Ventricular septal defect, Renal cyst	OMIM:611134
Noonan Syndrome 11	Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis	OMIM:618499
8Q12 Microduplication Syndrome	Atrial septal defect, Ventricular septal defect	ORPHA:228399
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Renal dysplasia, Renal insufficiency, Unilateral renal agenesis, Abnormal heart morphology, Polyc...	ORPHA:2237
Leber Congenital Amaurosis 15	Optic disc pallor, Pigmentary retinopathy, Peripapillary atrophy, Dull foveal reflex, Retinal deg...	OMIM:613843
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Normal pressure hydrocephalus, Ventriculomegaly	OMIM:611808
Adenine Phosphoribosyltransferase Deficiency	2,8-dihydroxyadenine crystalluria, Renal insufficiency, Urolithiasis, Nephrolithiasis, Oliguria, ...	OMIM:614723
Pearson Syndrome	Renal cyst, Abnormality of the liver, Neutropenia, Hepatic steatosis, Reticulocytosis, Hepatomega...	ORPHA:699
Familial Cutaneous Collagenoma	Atrial septal defect, Cardiomyopathy	ORPHA:53296
Holoprosencephaly	Aplasia/Hypoplasia involving the nose, Anteverted nares, Choanal atresia, Cryptorchidism, Anosmia...	ORPHA:2162
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Bicuspid aortic valve, Parachute mitral valve, Micrognathia, Asplenia, Atrial septal defect, Atri...	OMIM:265380
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Aplastic clavicle, Micromelia, Short ribs, Polycystic kidney dysplasia, Atrial septal defect, Mic...	OMIM:616546
Congenital Muscular Dystrophy, Fukuyama Type	Hydrocephalus, Optic atrophy, Retinal dysplasia, Ventriculomegaly	ORPHA:272
Von Willebrand Disease	Abnormal mitral valve morphology, Venous insufficiency	ORPHA:903
Joubert Syndrome 14	Encephalocele, Morning glory anomaly, Hydrocephalus, Meningocele, Optic atrophy, Renal cyst, Dand...	OMIM:614424
Congenital Toxoplasmosis	Abnormality of retinal pigmentation	ORPHA:858
Late Infantile Neuronal Ceroid Lipofuscinosis	Abnormality of visual evoked potentials, Abnormal amplitude of flash visual evoked potentials, Re...	ORPHA:168491
Tuberous Sclerosis Complex	Renal insufficiency, Abnormality of the kidney, Chronic kidney disease, Stage 5 chronic kidney di...	ORPHA:805
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome	Abnormality of the sense of smell	ORPHA:3201
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Dilated cardiomyopathy, Myocardial fibrosis, Transposition of the great arteries, Pulmonic stenos...	OMIM:253800
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay	Patent foramen ovale	OMIM:618832
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Renal hypoplasia, Renal cyst, Ureteral agenesis, Multinucleated neuron, Hydranencephaly, Renal dy...	OMIM:236500
Nephrotic Syndrome, Type 11	Diffuse mesangial sclerosis, Ventricular septal defect, Proteinuria, Minimal change glomeruloneph...	OMIM:616730
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Renal cyst, Horseshoe kidney, Hypoautofluorescent retinal lesion, Rod-cone dystrophy, Retinal deg...	OMIM:250410
14Q11.2 Microdeletion Syndrome	Patent ductus arteriosus, Ventricular septal defect	ORPHA:261120
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)	Macular degeneration, Neurogenic bladder, Dysphagia	OMIM:619780
Mckusick-Kaufman Syndrome	Urethral stricture, Multicystic kidney dysplasia, Ventricular septal defect, Renal hypoplasia/apl...	ORPHA:2473
Noonan Syndrome 12	Lymphopenia, Tetralogy of Fallot, Ventricular septal defect, Thrombocytopenia	OMIM:618624
Night Blindness, Congenital Stationary, Type 1B	Congenital stationary night blindness, Bone spicule pigmentation of the retina	OMIM:257270
Posterior Column Ataxia With Retinitis Pigmentosa	Bone spicule pigmentation of the retina, Decreased sensory nerve conduction velocity, Optic atrop...	OMIM:609033
Neonatal Adrenoleukodystrophy	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:44
X-Linked Intellectual Disability, Nascimento Type	Ventricular septal defect, Hypospadias, Patent ductus arteriosus, Double outlet right ventricle, ...	ORPHA:163956
Parkinson Disease 8, Autosomal Dominant	Hyposmia	OMIM:607060
Elliptocytosis 3	Decreased mean corpuscular volume, Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia	OMIM:617948
Down Syndrome	Ventricular septal defect, Short middle phalanx of the 5th finger, Complete atrioventricular cana...	OMIM:190685
Stankiewicz-Isidor Syndrome	Ureteral duplication, Ventricular septal defect, Hypospadias, Micrognathia, Absent thumb, Short t...	OMIM:617516
Lymphedema, Cardiac Septal Defects, And Characteristic Facies	Overriding aorta, Ventricular septal defect, Patent ductus arteriosus, Vascular ring, Atrial sept...	OMIM:601927
Beemer Lethal Malformation Syndrome	Hydrocephalus	OMIM:209970
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Hypoplasia of the ulna, Fibular hypoplasia, Short ribs, Polycystic kidney dysplasia, Absent tibia...	OMIM:613091
Kaposiform Lymphangiomatosis	Epidural hemorrhage, Pericardial effusion, Pancreatic cysts, Thrombocytopenia, Splenomegaly, Abno...	ORPHA:464329
Oculopharyngodistal Myopathy 3	Pigmentary retinopathy	OMIM:619473
Chromosome 1P36 Deletion Syndrome, Proximal	Bicuspid aortic valve, Ventricular septal defect, Complete atrioventricular canal defect, Patent ...	OMIM:619343
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia	Azoospermia, Testicular microlithiasis, Abnormality of the Leydig cells, Abnormality of the sense...	OMIM:228300
Distal Deletion 15Q	Multicystic kidney dysplasia, Bicuspid aortic valve, Mitral atresia, Hypospadias, Micrognathia, D...	ORPHA:1596
Diaphanospondylodysostosis	Multiple renal cysts, Missing ribs	ORPHA:66637
Masa Syndrome	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	OMIM:303350
Retinitis Pigmentosa 74	Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy	OMIM:616562
Ogden Syndrome	Bicuspid aortic valve, Cardiomegaly, Secundum atrial septal defect, Microvesicular hepatic steato...	OMIM:300855
Renal Dysplasia	Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure...	ORPHA:93108
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Abnormal cardiac septum morphology, Ventricular septal defect	ORPHA:83473
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	11 pairs of ribs, Short humerus, Short metacarpal, Short femur, Ventricular septal defect, Microm...	OMIM:210710
Linear Skin Defects With Multiple Congenital Anomalies 2	Atrial septal defect, Ventricular hypertrophy, Tetralogy of Fallot	OMIM:300887
Spermatogenic Failure 28	Male infertility, Non-obstructive azoospermia, Decreased testicular size	OMIM:618086
1Q44 Microdeletion Syndrome	Optic disc hypoplasia, Hydrocephalus, Horseshoe kidney, Vesicoureteral reflux, Agenesis of corpus...	ORPHA:238769
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Hydrocephalus	ORPHA:1008
Joubert Syndrome 2	Encephalocele, Enlarged fossa interpeduncularis, Renal insufficiency, Retinal dystrophy, Hydrocep...	OMIM:608091
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent	Hydrocephalus	OMIM:266100
Autosomal Recessive Spastic Paraplegia Type 15	Pigmentary retinopathy, Retinal flecks, Yellow/white lesions of the retina	ORPHA:100996
Genitopalatocardiac Syndrome	Multicystic kidney dysplasia, Hypospadias, Micrognathia, Abnormal mesentery morphology, Abnormali...	ORPHA:2075
Pseudotrisomy 13 Syndrome	11 pairs of ribs, Ventricular septal defect, Dextrocardia, Renal agenesis, Complete atrioventricu...	OMIM:264480
Cortical Dysplasia, Complex, With Other Brain Malformations 9	Hydrocephalus, Optic atrophy	OMIM:618174
Combined Oxidative Phosphorylation Deficiency 11	Hepatomegaly, Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Cardiomy...	OMIM:614922
Congenital Muscular Dystrophy With Intellectual Disability	Pigmentary retinopathy, Facial palsy	ORPHA:370968
Maternal Uniparental Disomy Of Chromosome 2	Renal insufficiency, Hypospadias, Bilateral cryptorchidism, Chordee, Renal dysplasia, Retinal deg...	ORPHA:96179
Cardiofaciocutaneous Syndrome 3	Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis	OMIM:615279
Pontocerebellar Hypoplasia, Type 15	Hydrocephalus, Partial agenesis of the corpus callosum, Agenesis of corpus callosum	OMIM:619302
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hyperchloriduria, Renal insufficiency, Polyuria, Increased urinary potassium, Renal salt wasting,...	OMIM:613090
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Retinal detachment, Retinal dystrophy, Macular atrophy, Chorioretinal coloboma	OMIM:212550
Walker-Warburg Syndrome	Retinal detachment, Hypoplasia of penis, Ventriculomegaly, Retinal dystrophy, Chorioretinal dyspl...	ORPHA:899
Interstitial Nephritis, Karyomegalic	Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Tubulointerstitial ne...	OMIM:614817
Acrorenal-Mandibular Syndrome	Hypoplasia of the ulna, Hypoplastic scapulae, Renal agenesis, Micrognathia, Missing ribs, Hypopla...	OMIM:200980
Diamond-Blackfan Anemia 5	Macrocytic anemia, Ventricular septal defect, Erythroid hypoplasia, Reticulocytopenia, Leukopenia	OMIM:612528
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Hydrocephalus, Agenesis of corpus callosum, Retinal degeneration	OMIM:615249
Huntington Disease	Abnormality of the sense of smell	ORPHA:399
Medullary cystic kidney disease 2	Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Enuresis, Tubulointerstitia...	OMIM:603860
Zika Virus Disease	Optic disc hypoplasia, Macular atrophy, Retinal pigment epithelial mottling, Chorioretinal atroph...	ORPHA:448237
Diets-Jongmans Syndrome	Heterotaxy, Interrupted inferior vena cava with azygous continuation, Ventricular septal defect, ...	OMIM:618846
Long Qt Syndrome 16	Patent ductus arteriosus after birth at term, Perimembranous ventricular septal defect	OMIM:618782
Congenital Disorder Of Glycosylation, Type Iid	Hydrocephalus, Dandy-Walker malformation	OMIM:607091
Hydrocephalus, Autosomal Dominant	Hydrocephalus, Dandy-Walker malformation	OMIM:123155
Primary Unilateral Adrenal Hyperplasia	Polydipsia, Increased urinary potassium	ORPHA:231580
Holoprosencephaly 5	Syntelencephaly, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Lateral ventri...	OMIM:609637
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Increased urine alpha-ketoglutarate concentration, Ventricular septal defect, Renal agenesis, Pat...	OMIM:220500
Cardioacrofacial Dysplasia 1	Complete atrioventricular canal defect, Atrioventricular canal defect	OMIM:619142
Corpus Callosum Agenesis-Neuronopathy Syndrome	Abnormality of retinal pigmentation	ORPHA:1496
Whipple Disease	Polydipsia, Hydrocephalus, Anorexia	ORPHA:3452
Red Cell Permeability Defect	Elliptocytosis	OMIM:179650
Orofaciodigital Syndrome Xvii	Short middle phalanx of the 2nd finger, Renal hypoplasia, Retrognathia, Micropenis, Tetralogy of ...	OMIM:617926
47,Xyy Syndrome	Hyperactivity, Hypospadias, Impulsivity, Cryptorchidism, Hydrocephalus, Congenital stationary nig...	ORPHA:8
Cardiac Valvular Dysplasia 1	Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, Valvular pulmonary stenos...	OMIM:212093
Multifocal Atrial Tachycardia	Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy, ...	ORPHA:3282
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia	Patent foramen ovale	OMIM:617182
Renal Hypoplasia, Bilateral	Proteinuria, Cryptorchidism, Chronic kidney disease, Renal hypoplasia, Renal cyst, Oliguria, Beta...	ORPHA:97362
Trisomy 13	Ventricular septal defect, Patent ductus arteriosus, Abnormality of the ureter, Multiple renal cy...	ORPHA:3378
Atelis Syndrome 1	Ventricular septal defect, Anemia, Leukopenia, Atrial septal defect, Thrombocytopenia	OMIM:620184
Pediatric-Onset Graves Disease	Hyperactivity, Polydipsia, Polyphagia	ORPHA:525731
Jeune Syndrome	Abnormality of retinal pigmentation	ORPHA:474
Meckel Syndrome, Type 10	Dilated fourth ventricle, Occipital encephalocele, Hypospadias, Anencephaly, Renal cyst, Micropen...	OMIM:614175
Lissencephaly 5	Occipital encephalocele, Hydrocephalus, Optic atrophy	OMIM:615191
Non-Specific Early-Onset Epileptic Encephalopathy	Impulsivity, Optic atrophy, Retinal degeneration, Attention deficit hyperactivity disorder	ORPHA:442835
Heme Oxygenase 1 Deficiency	Hemolytic anemia, Hepatomegaly, Proteinuria, Asplenia, Cervical lymphadenopathy, Lymphadenopathy,...	OMIM:614034
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Decreased testicular size, Communicating hydrocephalus, Multicystic kidney dysplasia, Occipital e...	OMIM:615287
Craniofacial Dyssynostosis With Short Stature	Hypospadias, Cryptorchidism, Hydrocephalus, Horseshoe kidney, Agenesis of corpus callosum, Ventri...	OMIM:218350
Fanconi Anemia, Complementation Group D2	Duplicated collecting system, Renal agenesis, Ectopic kidney, Cryptorchidism, Hydrocephalus, Hors...	OMIM:227646
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations	Abnormality of visual evoked potentials, Optic disc pallor, Abnormal auditory evoked potentials	OMIM:617523
Neuromuscular Oculoauditory Syndrome	Decreased nerve conduction velocity, Chorioretinal lacunae, Retinal pigment epithelial mottling, ...	OMIM:618733
Peroxisome Biogenesis Disorder 11A (Zellweger)	Multiple renal cysts, Renal cyst	OMIM:614883
Retinitis Pigmentosa 82 With Or Without Situs Inversus	Optic disc pallor, Rod-cone dystrophy, Macular atrophy	OMIM:615434
Axial Osteomalacia	Polycystic liver disease, Renal cyst	OMIM:109130
Khan-Khan-Katsanis Syndrome	Ureteral duplication, Patent ductus arteriosus after premature birth, Micrognathia, Renal hypopla...	OMIM:618460
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Abnormality of retinal pigmentation	ORPHA:3085
Bartter Syndrome, Type 2, Antenatal	Hyperchloriduria, Polyuria, Renal salt wasting, Increased urinary potassium, Hypercalciuria, Hype...	OMIM:241200
6P22 Microdeletion Syndrome	Hydrocephalus, Hydronephrosis	ORPHA:251046
15q26 overgrowth syndrome	Mandibular prognathia, Renal agenesis, Abnormality of the kidney, Micrognathia, Horseshoe kidney,...	DECIPHER:81
Tetraamelia-Multiple Malformations Syndrome	Multicystic kidney dysplasia, Septo-optic dysplasia, Cryptorchidism, Hydrocephalus, Optic atrophy...	ORPHA:3301
Yuan-Harel-Lupski Syndrome	Ventricular septal defect, Double outlet right ventricle, Bicuspid aortic valve, Aortic root aneu...	OMIM:616652
Microphthalmia, Syndromic 12	Hypoplastic left atrium, Ventricular septal defect	OMIM:615524
Orotic Aciduria	Ventricular septal defect, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-res...	OMIM:258900
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia	Atrial septal defect	OMIM:620094
Neurocutaneous Melanocytosis	Abnormality of retinal pigmentation, Generalized hyperpigmentation, Numerous congenital melanocyt...	ORPHA:2481
Polyendocrine-Polyneuropathy Syndrome	Decreased testicular size, Abnormality of the sense of smell	OMIM:616113
Hypotonia, Infantile, With Psychomotor Retardation	Ventricular septal defect	OMIM:616816
Tetraamelia Syndrome 2	Microretrognathia, Ventricular septal defect, Micrognathia, Hypoplastic pulmonary veins, Micropen...	OMIM:618021
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Pigmentary retinopathy, Optic atrophy	OMIM:252011
Joubert Syndrome 23	Cerebellar dysplasia	OMIM:616490
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Restless legs, Hydrocephalus, Optic atrophy	ORPHA:99947
Panhypophysitis	Orthostatic hypotension, Hyposthenuria, Polydipsia	ORPHA:95513
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Ventriculomegaly, Hydrocephalus, Chorioretinal coloboma, Dysphagia, Dandy-Walker malformation	ORPHA:163961
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Giant cell hepatitis, Ventricular septal defect, Micrognathia, Hepatic melanin-like lysosomal pig...	OMIM:208085
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Renal insufficiency, Proteinuria, Hemolytic-uremic syndrome, Cystathioninuria, Hydrocephalus, Dec...	OMIM:277400
3-Methylglutaconic Aciduria Type 7	Renal insufficiency, Renal cyst, Nephrocalcinosis, Cardiomyopathy, 3-Methylglutaconic aciduria, B...	ORPHA:445038
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Ventricular septal defect, Patent ductus arteriosus, Persistence of hemoglobin F, Increased size ...	OMIM:619769
Pericardial And Diaphragmatic Defect	Bicuspid aortic valve, Patent ductus arteriosus, Abnormal heart morphology, Atrial septal defect,...	ORPHA:2847
Thoracoabdominal Syndrome	Patent ductus arteriosus, Ectopia cordis, Transposition of the great arteries	OMIM:313850
Paget Disease Of Bone 5, Juvenile-Onset	Increased urine deoxypyridinoline level, Macular scar, Hypercalciuria, Angioid streaks of the fun...	OMIM:239000
Klippel-Trénaunay Syndrome	Hepatomegaly, Peripheral arteriovenous fistula, Microcytic anemia, Venous insufficiency, Patent d...	ORPHA:90308
Coronary Arterial Fistula	Bicuspid aortic valve, Cardiomegaly, Patent ductus arteriosus, Coronary artery aneurysm, Abnormal...	ORPHA:2041
Giant Cell Arteritis	Pericarditis, Renal insufficiency, Mediastinal lymphadenopathy, Vasculitis, Hematuria, Aortic dis...	ORPHA:397
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Atrial septal defect, Bicuspid aortic valve	OMIM:617744
Mitochondrial Complex Iv Deficiency, Nuclear Type 15	Pigmentary retinopathy	OMIM:619059
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:613870
Toxic Epidermal Necrolysis	Renal insufficiency, Dysuria, Abnormality of the urethra, Dysphagia, Polydipsia	ORPHA:537
Trisomy 1Q	Microretrognathia, Multicystic kidney dysplasia, Ventricular septal defect, Patent ductus arterio...	ORPHA:261344
Multisystemic Smooth Muscle Dysfunction Syndrome	Aortic arch aneurysm, Thoracic aortic aneurysm, Brachiocephalic artery aneurysm, Patent ductus ar...	OMIM:613834
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Hypoplastic left heart, Ventricular septal defect	ORPHA:2476
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Retinal degeneration	ORPHA:542306
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy	Pigmentary retinopathy	ORPHA:329336
Erdheim-Chester Disease	Hydronephrosis, Renal insufficiency, Polydipsia, Dysuria	ORPHA:35687
Hemangioblastoma	Retinal capillary hemangioma, Neurogenic bladder, Hydrocephalus	ORPHA:252054
Adult-Onset Autosomal Recessive Cerebellar Ataxia	Cerebellar atrophy, Macular degeneration	ORPHA:284289
Bosma Arhinia Microphthalmia Syndrome	Cryptorchidism, Anosmia, Choanal atresia, Aplasia of the nose	OMIM:603457
Atrioventricular Septal Defect 4	Primum atrial septal defect	OMIM:614430
Waardenburg Syndrome, Type 2E	Anosmia	OMIM:611584
Holt-Oram Syndrome	Ventricular septal defect, Patent ductus arteriosus, Anomalous pulmonary venous return, Abnormal ...	ORPHA:392
Ciliary Dyskinesia, Primary, 37	Female infertility	OMIM:617577
Desmoid Tumor	Abnormality of retinal pigmentation	ORPHA:873
Cat Eye Syndrome	Ventricular septal defect, Renal agenesis, Micrognathia, Absent radius, Patent ductus arteriosus,...	OMIM:115470
Thrombocytopenia-Absent Radius Syndrome	Abnormality of the kidney, Micrognathia, Absent radius, Aplasia/hypoplasia of the humerus, Aplasi...	ORPHA:3320
Weill-Marchesani Syndrome	Aortic valve stenosis, Ventricular septal defect, Pulmonic stenosis	ORPHA:3449
Band Heterotopia	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Lateral ventricle dilatation	OMIM:600348
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat...	OMIM:174000
Lessel-Kreienkamp Syndrome	Bicuspid aortic valve, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Patent ...	OMIM:619149
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Hypoplasia of the ulna, Ureteral stenosis, Hydroureter, Patent ductus arteriosus, Hypercalciuria,...	OMIM:615398
Hydrolethalus	Cryptorchidism, Abnormality of the sense of smell	ORPHA:2189
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome	Hypoplasia of penis, Tetralogy of Fallot, Hypospadias	ORPHA:1381
Peroxisomal Acyl-Coa Oxidase Deficiency	Abnormality of visual evoked potentials, Optic atrophy	ORPHA:2971
Congenital Disorder Of Glycosylation, Type Iil	Hepatomegaly, Pancytopenia, Ventricular septal defect, Unilateral renal agenesis, Splenomegaly, P...	OMIM:614576
Trichohepatoenteric Syndrome 1	Galactosuria, Hypospadias, Renal cortical microcysts	OMIM:222470
Familial Peripheral Male-Limited Precocious Puberty	Male infertility, Macroorchidism, Oligozoospermia	ORPHA:3000
Williams-Beuren Region Duplication Syndrome	Unilateral renal agenesis, Cryptorchidism, Hydrocephalus, Attention deficit hyperactivity disorde...	OMIM:609757
Chromosome 16Q12 Duplication Syndrome	Temporal optic disc pallor, Retinal pigment epithelial mottling	OMIM:619649
Mucolipidosis Type Iv	Abnormality of retinal pigmentation, Retinopathy	ORPHA:578
Intellectual Developmental Disorder, Autosomal Dominant 21	Atrial septal defect, Patent ductus arteriosus, Coarctation of aorta	OMIM:615502
Superficial Siderosis	Anosmia, Partial anosmia	ORPHA:247245
Familial Hyperaldosteronism Type I	Polydipsia	ORPHA:403
Peroxisome Biogenesis Disorder 1B	Hyperoxaluria, Rod-cone dystrophy, Optic atrophy, Renal cyst	OMIM:601539
Neural Tube Defects, Susceptibility To	Urinary incontinence, Hydrocephalus, Myelomeningocele, Anencephaly, Spina bifida occulta	OMIM:182940
Hypouricemia, Renal, 1	Proteinuria, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricosuria, Renal co...	OMIM:220150
Biemond Syndrome Type 2	Hydrocephalus, Hypospadias	ORPHA:141333
Neurodevelopmental Disorder With Seizures And Brain Abnormalities	Retinal pigment epithelial mottling	OMIM:619517
Fanconi Anemia, Complementation Group A	Duplicated collecting system, Renal agenesis, Ectopic kidney, Cryptorchidism, Abnormal renal morp...	OMIM:227650
Intellectual Developmental Disorder, Autosomal Recessive 79	Ventricular septal defect	OMIM:620393
Acitretin/Etretinate Embryopathy	Aplasia/hypoplasia involving bones of the lower limbs, Aplasia/Hypoplasia of the maxilla, Aplasia...	ORPHA:40366
Marden-Walker Syndrome	Abnormal penis morphology, Renal dysplasia, Multicystic kidney dysplasia, Hydroureter, Ventricula...	ORPHA:2461
Fixed Subaortic Stenosis	Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Abnorma...	ORPHA:3092
Fanconi Anemia, Complementation Group B	Abnormality of chromosome stability, Optic disc hypoplasia, Renal agenesis, Hydrocephalus, Microp...	OMIM:300514
Lethal Congenital Contracture Syndrome 2	Dilated cardiomyopathy, Ventricular septal defect, Hydronephrosis, Micrognathia	OMIM:607598
Joubert Syndrome With Oculorenal Defect	Encephalocele, Renal insufficiency, Aganglionic megacolon, Retinal dystrophy, Hydrocephalus, Chor...	ORPHA:2318
Crome Syndrome	Cerebellar dysplasia	OMIM:218900
Roberts Syndrome	Aplasia/Hypoplasia of the thumb, Micrognathia, Long penis, Mesomelic arm shortening, Hypoplasia o...	ORPHA:3103
Hypomandibular Faciocranial Dysostosis	Atrial septal defect, Patent ductus arteriosus	OMIM:241310
Zttk Syndrome	Polyuria, Unilateral renal agenesis, Dysplastic corpus callosum, Optic atrophy, Horseshoe kidney,...	OMIM:617140
X-Linked Lissencephaly With Abnormal Genitalia	Hypoplasia of penis, Ventricular septal defect, Micrognathia, Patent ductus arteriosus, Exocrine ...	ORPHA:452
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Renal agenesis, Hypospadias, Cryptorchidism, Hydrocephalus, Renal hypoplasia, Micropenis	ORPHA:171839
Central Precocious Puberty In Male	Attention deficit hyperactivity disorder, Hydrocephalus, Abnormality of the testis size, Aggressi...	ORPHA:649929
Thauvin-Robinet-Faivre Syndrome	Renal malrotation, Transient neutropenia, Ventricular septal defect, Renal cyst, Mitral valve pro...	OMIM:617107
Gitelman Syndrome	Salt craving, Proteinuria, Urinary incontinence, Decreased urinary potassium, Tubulointerstitial ...	ORPHA:358
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked	Male infertility, Azoospermia	OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of	Male infertility, Azoospermia	OMIM:277180
Distal 7Q11.23 Microduplication Syndrome	Cryptorchidism, Hydrocephalus, Frontal encephalocele, Attention deficit hyperactivity disorder	ORPHA:261102
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Hypertrophic cardiomyopathy, Ventricular septal defect	OMIM:616277
Hyperinsulinemic Hypoglycemia, Familial, 8	Atrial septal defect	OMIM:620211
Fanconi Anemia, Complementation Group E	Duplicated collecting system, Renal agenesis, Ectopic kidney, Cryptorchidism, Horseshoe kidney, D...	OMIM:600901
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:2518
Congenital Bilateral Absence Of Vas Deferens	Male infertility, Obstructive azoospermia, Oligozoospermia	ORPHA:48
Arthrogryposis, Distal, Type 5	Abnormality of retinal pigmentation, Retinal fold	OMIM:108145
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Bicuspid aortic valve, Patent ductus arteriosus, Anomalous pulmonary venous return, Coarctation o...	ORPHA:1120
Noonan Syndrome 8	Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Hyp...	OMIM:615355
Microgastria-Limb Reduction Defect Syndrome	Hepatomegaly, Multicystic kidney dysplasia, Crossed fused renal ectopia, Renal agenesis, Aplastic...	ORPHA:2538
Aprosencephaly And Cerebellar Dysgenesis	Poorly formed metencephalon, Aprosencephaly, Retinal dysplasia, Cerebellar dysplasia	OMIM:601374
Dandy-Walker Malformation With Postaxial Polydactyly	Dilated fourth ventricle, Hydrocephalus, Chorioretinal atrophy, Dandy-Walker malformation	OMIM:220220
Micro Syndrome	Abnormality of visual evoked potentials, Abnormality of retinal pigmentation, Optic atrophy, Reti...	ORPHA:2510
Meckel Syndrome, Type 3	Occipital encephalocele, Multicystic kidney dysplasia, Hydrocephalus, Dandy-Walker malformation	OMIM:607361
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Decreased renal tubular phosphate excretion, Nephrocalcinosis, Angioid streaks of the fundus, Inc...	OMIM:211900
Chromosome Xp11.3 Deletion Syndrome	Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy, Attenuation of retinal blood vessels	OMIM:300578
Birt-Hogg-Dube Syndrome 1	Renal neoplasm, Renal cell carcinoma, Renal cyst	OMIM:135150
Adams-Oliver Syndrome 5	Portal vein thrombosis, Hypersplenism, Splenomegaly, Right atrial enlargement, Pulmonic stenosis,...	OMIM:616028
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism	Pigmentary retinopathy, Rod-cone dystrophy	OMIM:268020
Megalencephaly	Atrial septal defect	ORPHA:2477
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Renal insufficiency, Proteinuria, Pancreatic cysts, Chronic kidney disease, Renal cyst, Nephritis...	OMIM:208500
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Ventriculomegaly, Hydrocephalus, Optic atrophy, Pigmentary retinopathy, Lateral ventricle dilatat...	OMIM:613154
Developmental And Epileptic Encephalopathy 66	Ventricular septal defect, Dextrocardia, Neutropenia, Atrial septal defect, Anemia	OMIM:618067
Crouzon Syndrome With Acanthosis Nigricans	Brachycephaly, Craniosynostosis, Midface retrusion	OMIM:612247
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Retinal detachment, Aggressive behavior, Hydrocephalus, Optic atrophy, Self-injurious behavior, C...	OMIM:619833
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Retinal detachment, Occipital encephalocele, Retinal atrophy, Ventriculomegaly, Optic nerve hypop...	OMIM:236670
Hydrocephaly-Low Insertion Umbilicus Syndrome	Abnormality of the urinary system, Patent ductus arteriosus, Tetralogy of Fallot, Anomalous pulmo...	ORPHA:2184
Ciliary Dyskinesia, Primary, 45	Male infertility	OMIM:618801
Classic Pantothenate Kinase-Associated Neurodegeneration	Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy	ORPHA:216866
Mepan Syndrome	Cerebellar atrophy, Optic atrophy, Cerebral atrophy, Abnormality of visual evoked potentials	ORPHA:508093
Nabais Sa-De Vries Syndrome, Type 2	Multicystic kidney dysplasia, Hypoplastic left heart, Micrognathia	OMIM:618829
Pagod Syndrome	Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Situs inversus totalis, Abnormality of th...	ORPHA:991
Krabbe Disease	Decreased nerve conduction velocity, Hydrocephalus, Optic atrophy, Increased CSF protein concentr...	OMIM:245200
Mucolipidosis Iii Alpha/Beta	Retinopathy, Retinal degeneration	OMIM:252600
Congenital Muscular Dystrophy With Cerebellar Involvement	Dilated fourth ventricle, Retinal detachment, Occipital encephalocele, Optic nerve hypoplasia, Hy...	ORPHA:370959
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Cryptorchidism, Anosmia	OMIM:609136
Knobloch Syndrome	Retinal detachment, Occipital encephalocele, Hydrocephalus, Abnormal vitreous humor morphology, M...	ORPHA:1571
Autosomal Recessive Spastic Paraplegia Type 44	Abnormality of visual evoked potentials, Abnormal auditory evoked potentials, Abnormality of soma...	ORPHA:320401
Optic Pathway Glioma	Papilledema, Hydrocephalus, Optic atrophy	ORPHA:2086
Bardet-Biedl Syndrome 12	Hydronephrosis, Rod-cone dystrophy, Hydroureter, Cystic renal dysplasia	OMIM:615989
Angioosteohypotrophic Syndrome	Hypoplasia of the ulna, Prominent superficial veins, Short humerus, Aplasia/hypoplasia involving ...	ORPHA:75508
Alveolar Echinococcosis	Liver abscess, Abnormal pericardium morphology, Cholangitis, Portal hypertension, Pancreatic cyst...	ORPHA:284
Developmental And Epileptic Encephalopathy 90	Atrial septal defect	OMIM:301058
Greig Cephalopolysyndactyly Syndrome	Hypospadias, Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	OMIM:175700
Hamel Cerebro-Palato-Cardiac Syndrome	Atrial septal defect	ORPHA:93946
Mosaic Variegated Aneuploidy Syndrome 1	Multicystic kidney dysplasia, Hypospadias, Nephroblastoma, Micrognathia, Renal cyst, Short sternu...	OMIM:257300
Galloway-Mowat Syndrome 7	Diffuse mesangial sclerosis, Ventricular septal defect, Proteinuria, Minimal change glomeruloneph...	OMIM:618348
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2	Pigmentary retinopathy, Facial palsy	OMIM:613156
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia	Ventricular septal defect	ORPHA:94066
Ebstein Malformation Of The Tricuspid Valve	Abnormal endocardium morphology, Patent ductus arteriosus, Ebstein anomaly of the tricuspid valve...	ORPHA:1880
Neuropathy, Hereditary Sensory And Autonomic, Type Viii	Hyposmia	OMIM:616488
Aromatase Deficiency	Male infertility, Macroorchidism, postpubertal, Eunuchoid habitus, Hypergonadotropic hypogonadism...	ORPHA:91
Ciliary Dyskinesia, Primary, 42	Recurrent sinusitis, Nasal polyposis, Chronic rhinitis	OMIM:618695
Aminopterin/Methotrexate Embryofetopathy	Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Ventricular septal defect, Micromelia, Mi...	ORPHA:1908
Delpire-Mcneill Syndrome	Ventricular septal defect	OMIM:619083
Diamond-Blackfan Anemia 7	Macrocytic anemia, Ventricular septal defect, Secundum atrial septal defect, Short thumb, Patent ...	OMIM:612562
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Ureteropelvic junction obstruction, Duplicated collecting system, Hepatomegaly, Delayed eruption ...	OMIM:280000
Fryns Syndrome	Multicystic kidney dysplasia, Hypospadias, Micrognathia, Abnormal aortic arch morphology, Abnorma...	ORPHA:2059
Short-Rib Thoracic Dysplasia 12	Hepatomegaly, Natal tooth, Hypoplastic scapulae, Ventricular septal defect, Splenomegaly, Patent ...	OMIM:269860
Cln3 Disease	Pigmentary retinopathy, Optic atrophy, Bull's eye maculopathy	ORPHA:228346
Kawasaki Disease	Pericarditis, Abnormal heart valve morphology, Proteinuria, Myocarditis, Leukocytosis, Vasculitis...	ORPHA:2331
Xeroderma Pigmentosum, Complementation Group F	Deficient excision of UV-induced pyrimidine dimers in DNA, Defective DNA repair after ultraviolet...	OMIM:278760
Bor Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Vesicoureteral reflu...	ORPHA:107
8Q21.11 Microdeletion Syndrome	Cryptorchidism, Wide nose, Underdeveloped nasal alae, Abnormality of the sense of smell	ORPHA:284160
Macrophthalmia, Colobomatous, With Microcornea	Optic disc coloboma, Macular atrophy, Chorioretinal coloboma	OMIM:602499
Corpus Callosum, Partial Agenesis Of, X-Linked	Hydrocephalus, Partial agenesis of the corpus callosum, Aganglionic megacolon, Ventriculomegaly	OMIM:304100
Congenitally Corrected Transposition Of The Great Arteries	Atrial situs ambiguous, Abnormal left ventricular outflow tract morphology, Abnormal tricuspid va...	ORPHA:216694
Edinburgh Malformation Syndrome	Hydrocephalus	OMIM:129850
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus	Coiled sperm flagella, Short sperm flagella, Nasal polyposis, Recurrent sinusitis	OMIM:620197
Hogue-Janssen Syndrome 2	Ventriculomegaly, Agenesis of corpus callosum, Hydrocephalus, Unilateral renal agenesis	OMIM:616362
Fanconi Anemia, Complementation Group R	Hydrocephalus, Pelvic kidney, Chromosomal breakage induced by crosslinking agents	OMIM:617244
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Ventricular septal defect, Secundum atrial septal defect, Coarctation of aorta, Perimembranous ve...	OMIM:600987
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Glomerulopathy, Renal insufficiency, Ketonuria, Macular coloboma, Hemolytic-uremic syndrome, Hydr...	ORPHA:79282
Leigh Syndrome	Pigmentary retinopathy, Optic atrophy	OMIM:256000
Isolated Right Ventricular Hypoplasia	Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig...	ORPHA:439
Cardiac, Facial, And Digital Anomalies With Developmental Delay	Mitral atresia, Patent ductus arteriosus, Double outlet right ventricle, Supravalvar pulmonary st...	OMIM:618164
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic atrophy	OMIM:268315
Temple-Baraitser Syndrome	Atrial septal defect, Pulmonic stenosis	OMIM:611816
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Cerebellar atrophy, Optic disc pallor, Decreased nerve conduction velocity, Optic atrophy, Abnorm...	ORPHA:485421
Meckel Syndrome, Type 2	Encephalocele, Meningocele, Anencephaly, Renal cyst, Dandy-Walker malformation	OMIM:603194
Mody	Abnormality of the kidney, Renal cyst, Glycosuria, Nephropathy, Retinopathy	ORPHA:552
Joubert Syndrome 21	Encephalocele, Occipital encephalocele, Optic atrophy, Megalopapilla, Renal cyst, Dysphagia, Hype...	OMIM:615636
Multiple Sulfatase Deficiency	Abnormality of retinal pigmentation, Hydrocephalus, Optic atrophy, Mucopolysacchariduria, Abnorma...	ORPHA:585
Tuberous Sclerosis 1	Dental enamel pits, Renal cyst, Cardiac rhabdomyoma, Renal cell carcinoma, Renal angiomyolipoma, ...	OMIM:191100
3-Methylglutaconic Aciduria, Type V	Noncompaction cardiomyopathy, Microvesicular hepatic steatosis, Dilated cardiomyopathy, Normochro...	OMIM:610198
Timothy Syndrome	Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Tetralogy of Fallot, Patent fo...	OMIM:601005
Pallister-Hall Syndrome	Renal dysplasia, Natal tooth, Hydroureter, Ventricular septal defect, Distal urethral duplication...	OMIM:146510
Ciliary Dyskinesia, Primary, 19	Rhinitis, Nasal polyposis, Recurrent sinusitis, Absent inner and outer dynein arms	OMIM:614935
Dandy-Walker Syndrome	Dilated fourth ventricle, Hydrocephalus	OMIM:220200
Vacterl/Vater Association	Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Ectopic kidney, A...	ORPHA:887
Gómez-López-Hernández Syndrome	Hydrocephalus	ORPHA:1532
Craniosynostosis 6	Turricephaly, Craniosynostosis, Parietal foramina, Brachycephaly, Plagiocephaly, Right unilambdoi...	OMIM:616602
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Ventricular septal defect	OMIM:618506
Zellweger Syndrome	Hepatomegaly, Multicystic kidney dysplasia, Ventricular septal defect, Hypospadias, Micrognathia,...	ORPHA:912
Congenital Bile Acid Synthesis Defect Type 2	Dark urine, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, Jaundice, Renal cys...	ORPHA:79303
Intellectual Developmental Disorder, Autosomal Dominant 39	Hydrocephalus, Polyphagia, Self-mutilation, Aggressive behavior	OMIM:616521
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Retinal detachment, Optic disc pallor, Hypospadias, Unilateral renal agenesis, Cryptorchidism, Re...	ORPHA:464311
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Giant cell hepatitis, Hepatomegaly, Ventricular septal defect, Proteinuria, Jaundice, Nephrocalci...	OMIM:613404
Chime Syndrome	Ventricular septal defect, Tetralogy of Fallot, Acute leukemia, Transposition of the great arteri...	ORPHA:3474
Pyruvate Dehydrogenase E2 Deficiency	Retinal degeneration	ORPHA:79244
Severe Oculo-Renal-Cerebellar Syndrome	Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Optic atrophy, Hypopig...	ORPHA:2715
Neurodevelopmental Disorder With Or Without Autism Or Seizures	Atrial septal defect, Pulmonic stenosis	OMIM:619239
Isotretinoin-Like Syndrome	Bicuspid aortic valve, Micrognathia, Abnormal cardiac ventricle morphology, Patent ductus arterio...	ORPHA:2306
Ciliary Dyskinesia, Primary, 30	Situs inversus totalis, Ventricular septal defect, Dextrocardia	OMIM:616037
Infantile Sialic Acid Storage Disease	Nephrotic syndrome, Hydrocephalus	OMIM:269920
Meckel Syndrome, Type 5	Occipital encephalocele, Anencephaly, Renal cyst	OMIM:611561
Vici Syndrome	Abnormality of retinal pigmentation, Optic atrophy, Hypopigmentation of the skin, Abnormal macula...	ORPHA:1493
Proximal 16P11.2 Microdeletion Syndrome	Multicystic kidney dysplasia, Dextrocardia, Micrognathia, Abnormal heart morphology, Abnormal aor...	ORPHA:261197
Diamond-Blackfan Anemia 10	Macrocytic anemia, Ventricular septal defect, Ectopic kidney, Micrognathia, Patent ductus arterio...	OMIM:613309
Developmental Delay With Or Without Dysmorphic Facies And Autism	Ventricular septal defect, Micrognathia, Patent ductus arteriosus, Renal hypoplasia, Renal cyst, ...	OMIM:618454
Muscle-Eye-Brain Disease	Hydrocephalus, Meningocele, Optic atrophy, Holoprosencephaly	ORPHA:588
Spermatogenic Failure 14	Male infertility, Azoospermia	OMIM:615842
Axial Spondylometaphyseal Dysplasia	Optic atrophy, Rod-cone dystrophy, Retinal dystrophy, Peripheral retinal degeneration	ORPHA:168549
Bartter Syndrome, Type 1, Antenatal	Hyperchloriduria, Polyuria, Renal salt wasting, Increased urinary potassium, Hypercalciuria, Hype...	OMIM:601678
Autism Spectrum Disorder Due To Auts2 Deficiency	Atrial septal defect, Abnormal heart morphology	ORPHA:352490
Chromosome 17Q12 Deletion Syndrome	Mandibular prognathia, Hypoplasia of the bladder, Multicystic kidney dysplasia, Recurrent urinary...	OMIM:614527
Oxoglutaric Aciduria	Abnormality of Krebs cycle metabolism, Hydrocephalus, Abnormal urine alpha-ketoglutarate concentr...	ORPHA:31
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation	Cerebellar atrophy, Corpus callosum atrophy, Optic atrophy, Cerebral atrophy, Brain atrophy, Abno...	OMIM:616875
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Aplasia of the thymus, Patent ductus arteriosus, T lymphocytopenia, Abnormal B cell morphology, P...	OMIM:618223
Chromosome 5Q12 Deletion Syndrome	Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale	OMIM:615668
Cerebrocostomandibular Syndrome	11 pairs of ribs, 10 pairs of ribs, Short humerus, Ventricular septal defect, Ectopic kidney, Mic...	OMIM:117650
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Micrognathia, Patent ductus arteriosus, Hypercalciuria, Renal cyst, Abnormal heart morphology, Ne...	ORPHA:369837
Kleeblattschaedel	Hydrocephalus	OMIM:148800
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Papilledema, Hydrocephalus	OMIM:260500
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Atrial septal defect	OMIM:615160
Spermatogenic Failure, X-Linked, 4	Male infertility, Azoospermia	OMIM:301077
Frontoocular Syndrome	Atrial septal defect, Pulmonic stenosis	OMIM:605321
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Communicating hydrocephalus, Hydrocephalus, Optic atrophy, Colpocephaly, Macular hypoplasia, Chor...	OMIM:615219
Joubert Syndrome 3	Pigmentary retinopathy, Retinal dystrophy	OMIM:608629
Tuberous Sclerosis 2	Absence of renal corticomedullary differentiation, Retinal hamartoma, Renal cyst, Achromatic reti...	OMIM:613254
De Sanctis-Cacchione Syndrome	Bilateral cryptorchidism, Optic atrophy, Defective DNA repair after ultraviolet radiation damage,...	OMIM:278800
Congenital Tricuspid Valve Dysplasia	Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri...	ORPHA:555874
Intellectual Developmental Disorder, Autosomal Dominant 70	Retinal detachment, Hydrocephalus, Optic nerve hypoplasia, Retinal telangiectasia	OMIM:620157
Autosomal Recessive Spastic Paraplegia Type 11	Orthostatic hypotension, Abnormality of pattern visual evoked potentials, Retinal degeneration	ORPHA:2822
Intellectual Developmental Disorder, X-Linked 30	Restlessness, Hyperactivity, Aggressive behavior, Hydrocephalus, Agitation	OMIM:300558
Fanconi Anemia, Complementation Group C	Duplicated collecting system, Renal agenesis, Ectopic kidney, Cryptorchidism, Horseshoe kidney, D...	OMIM:227645
Joubert Syndrome 8	Optic disc pallor, Pigmentary retinopathy	OMIM:612291
Fanconi Anemia, Complementation Group I	Ventricular septal defect, Absent thumb, Short thumb, Short 1st metacarpal, Abnormal renal morpho...	OMIM:609053
Meckel Syndrome, Type 6	Occipital encephalocele, Hydrocephalus, Anencephaly, Renal cyst, Horseshoe kidney, Aplasia of the...	OMIM:612284
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency	Hypoplasia of the pons, Cerebellar atrophy, Cerebellar hypoplasia, Retinal atrophy	ORPHA:412057
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Microretrognathia, Carious teeth, Dental malocclusion, Renal cyst	OMIM:615560
Roifman Syndrome	Noncompaction cardiomyopathy, Hepatomegaly, Ventricular septal defect, Eosinophilia, Splenomegaly...	OMIM:616651
Joubert Syndrome With Hepatic Defect	Occipital encephalocele, Multicystic kidney dysplasia, Renal insufficiency, Hydrocephalus, Optic ...	ORPHA:1454
Genitopatellar Syndrome	Delayed eruption of teeth, Multicystic kidney dysplasia, Micrognathia, Patellar aplasia, Short pa...	ORPHA:85201
Laubry-Pezzi Syndrome	Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Abnormal aortic valve cu...	ORPHA:99094
20P12.3 Microdeletion Syndrome	Atrial septal defect	ORPHA:261295
Frank-Ter Haar Syndrome	Ventricular septal defect, Micrognathia, Secundum atrial septal defect, Dental malocclusion, Mitr...	OMIM:249420
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Overriding aorta, Ventricular septal defect, Extramedullary hematopoiesis, ...	OMIM:617021
Bardet-Biedl Syndrome 1	Bone spicule pigmentation of the retina, Retinal dystrophy, Abnormality of the kidney, Aganglioni...	OMIM:209900
Feingold Syndrome Type 1	Renal dysplasia, Renal insufficiency, Tricuspid stenosis, Abnormality of the kidney, Micrognathia...	ORPHA:391641
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	OMIM:618577
Mohr-Tranebjaerg Syndrome	Absent brainstem auditory responses, Caudate atrophy, Optic atrophy, Abnormality of visual evoked...	ORPHA:52368
Pantothenate Kinase-Associated Neurodegeneration	Bull's eye maculopathy, Impulsivity, Optic atrophy, Pigmentary retinopathy, Retinal flecks, Tics,...	ORPHA:157850
Methimazole Embryofetopathy	Abnormal aortic morphology, Ventricular septal defect, Coarctation of aorta	ORPHA:1923
Radio-Renal Syndrome	Multicystic kidney dysplasia, Renal agenesis, Micromelia, Renal hypoplasia/aplasia, Micrognathia,...	ORPHA:3015
Pseudoxanthoma Elasticum	Choroidal neovascularization, Retinal hemorrhage, Renovascular hypertension, Angioid streaks of t...	OMIM:264800
Alagille Syndrome 1	Multiple small medullary renal cysts, Vesicoureteral reflux, Atrial septal defect, Hypoplasia of ...	OMIM:118450
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Ventricular septal defect, Coarctation of aorta, Abnormal heart morphology, Persistent left super...	OMIM:618494
Noonan Syndrome 9	Hydroureter, Ventricular septal defect, Pulmonic stenosis, Coarctation of aorta	OMIM:616559
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Patent ductus arteriosus, Patent foramen ovale	OMIM:616867
Ciliary Dyskinesia, Primary, 36, X-Linked	Male infertility	OMIM:300991
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arterios...	ORPHA:284169
Al-Raqad Syndrome	Atrial septal defect	OMIM:616459
Diaphanospondylodysostosis	Nephrogenic rest, Micrognathia, Missing ribs, Nephroblastomatosis, Horseshoe kidney, Abnormal liv...	OMIM:608022
Histiocytosis-Lymphadenopathy Plus Syndrome	Hepatomegaly, Ventricular septal defect, Cardiomegaly, Retroperitoneal fibrosis, Splenomegaly, Pa...	OMIM:602782
Seizures-Scoliosis-Macrocephaly Syndrome	Atrial septal defect	ORPHA:466926
Kagami-Ogata Syndrome	Hepatomegaly, Ventricular septal defect, Micrognathia, Hypoplasia of the maxilla, Splenomegaly, P...	OMIM:608149
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Nephroblastoma, Hydrocephalus, Ventriculomegaly	OMIM:602501
Bone Dysplasia, Lethal Holmgren Type	Hepatomegaly, Patent ductus arteriosus, Atrial septal defect, Hypertrophic cardiomyopathy, Anemia	ORPHA:1842
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Splenomegaly, Nephroblastoma, Renal hypoplasia, Venous malformation	OMIM:612918
Mucopolysaccharidosis Type 3	Hyperactivity, Ventriculomegaly, Aggressive behavior, Heparan sulfate excretion in urine, Hyperse...	ORPHA:581
Vitamin K Antagonist Embryofetopathy	Myelomeningocele, Optic atrophy, Hydrocephalus	ORPHA:1914
Pelizaeus-Merzbacher Disease	Abnormality of visual evoked potentials, Optic atrophy, Cerebral cortical atrophy	ORPHA:702
Renal Cysts And Diabetes Syndrome	Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Pro...	OMIM:137920
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1	Abnormality of visual evoked potentials, Nonarteritic anterior ischemic optic neuropathy	OMIM:125310
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Pigmentary retinopathy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Abnormal sen...	ORPHA:88628
Liposarcoma	Varicose veins, Abnormality of the kidney	ORPHA:69078
Trigonocephaly With Short Stature And Developmental Delay	Ventricular septal defect	OMIM:314320
Even-Plus Syndrome	Atrial septal defect, Patent foramen ovale	OMIM:616854
Congenital Disorder Of Glycosylation, Type Ia	Hepatomegaly, Pericarditis, Proteinuria, Pericardial effusion, Renal cyst, Stroke-like episode, C...	OMIM:212065
Aceruloplasminemia	Macular degeneration, Abnormality of retinal pigmentation, Retinal degeneration	ORPHA:48818
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Atrial septal defect, Pulmonary artery stenosis, Ventricular septal defect	ORPHA:75389
Gjc2-Related Late-Onset Primary Lymphedema	Venous insufficiency, Varicose veins, Hypoplasia of lymphatic vessels, Abnormal lymphatic vessel ...	ORPHA:568051
Adams-Oliver Syndrome 2	Hydrocephalus, Optic atrophy, Lateral ventricle dilatation	OMIM:614219
Thymic Neuroendocrine Tumor	Calcium nephrolithiasis, Chronic noninfectious lymphadenopathy, Pancreatic islet cell adenoma, Ne...	ORPHA:97289
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Patent ductus arteriosus, Coarctation of aorta, Normochromic anemia, Neutropenia, Atrial septal d...	OMIM:614857
Pallister-Hall-Like Syndrome	Occipital encephalocele, Micropenis, Hydrocephalus, Renal dysplasia	OMIM:241800
Stormorken-Sjaastad-Langslet Syndrome	Asplenia, Anemia	ORPHA:3204
Hurler Syndrome	Heparan sulfate excretion in urine, Hydrocephalus, Dermatan sulfate excretion in urine, Urinary g...	OMIM:607014
3C Syndrome	Hypoplasia of penis, Ventriculomegaly, Hypospadias, Hydrocephalus, Optic atrophy, Chorioretinal c...	ORPHA:7
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia	Unilateral renal atrophy, Pyelonephritis, Varicose veins, Nephritis, Renal dysplasia	OMIM:314300
Pituitary Dermoid And Epidermoid Cysts	Polydipsia, Oligozoospermia	ORPHA:91351
Holoprosencephaly 13, X-Linked	Ventricular septal defect, Micrognathia, Patent ductus arteriosus, Hypoplastic left heart, Double...	OMIM:301043
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Abnormality of the kidney, Hydrocephalus, Tubulointerstitial nephritis, Enuresis, Attention defic...	ORPHA:459061
Combined Oxidative Phosphorylation Deficiency 9	Hepatic steatosis, Hypertrophic cardiomyopathy, Patent foramen ovale, Hepatomegaly	OMIM:614582
Abruzzo-Erickson Syndrome	Atrial septal defect	ORPHA:921
Kaposi Sarcoma	Venous insufficiency, Abnormality of the spleen, Abnormality of the liver, Generalized lymphadeno...	ORPHA:33276
Klippel-Feil Syndrome 2, Autosomal Recessive	Ventricular septal defect	OMIM:214300
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Ventricular septal defect, Hypoplastic left heart	ORPHA:2772
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Patent ductus arteriosus, Renal cyst, Coarctation of aorta, Mitral stenosis, Renal dysplasia	OMIM:617260
Robinow Syndrome	Multicystic kidney dysplasia, Ventricular septal defect, Micrognathia, Persistence of primary tee...	ORPHA:97360
Trigonocephaly-Short Stature-Developmental Delay Syndrome	Ventricular septal defect	ORPHA:3369
Pettigrew Syndrome	Ventriculomegaly, Aggressive behavior, Aqueductal stenosis, Hydrocephalus, Optic atrophy, Self-in...	OMIM:304340
Trichothiodystrophy	Ventriculomegaly, Cryptorchidism, Partial agenesis of the corpus callosum, Defective DNA repair a...	ORPHA:33364
17Q12 Microduplication Syndrome	Atrial septal defect	ORPHA:261272
Pelvis-Shoulder Dysplasia	Spina bifida, Hydrocephalus, Retinal coloboma, Hydranencephaly, Hydronephrosis	ORPHA:2839
Microcephaly-Capillary Malformation Syndrome	Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Right ventricular hypertrophy	OMIM:614261
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome	Multicystic kidney dysplasia, Retrognathia, Fetal megacystis, Short palm	ORPHA:73246
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis	Hydrocephalus	OMIM:236660
Charge Syndrome	Micrognathia, Secundum atrial septal defect, Hand monodactyly, Atrial septal defect, Pulmonary ar...	OMIM:214800
Beta-Mercaptolactate Cysteine Disulfiduria	Atrial septal defect	ORPHA:1035
Tyshchenko Syndrome	Atrial septal defect, Ventricular septal defect, Pulmonic stenosis	OMIM:615102
2P15P16.1 Microdeletion Syndrome	Decreased testicular size, Multicystic kidney dysplasia, Facial palsy, Optic nerve hypoplasia, Op...	ORPHA:261349
Double Outlet Left Ventricle	Double outlet left ventricle, Ventricular septal defect, Abnormal coronary artery course, Cardiom...	ORPHA:3427
Vacterl Association With Hydrocephalus	Aqueductal stenosis, Hydrocephalus, Renal hypoplasia	OMIM:276950
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Anuria, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic kidney disease, Hematuria, Acute ...	OMIM:612925
Sporadic Adult-Onset Ataxia Of Unknown Etiology	Urinary incontinence, Macular degeneration, Abnormal autonomic nervous system physiology, Dysphag...	ORPHA:247234
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type	Atrial septal defect, Aortic root aneurysm, Ventricular septal defect	OMIM:301039
Classic Galactosemia	Male infertility, Premature ovarian insufficiency, Decreased fertility in females, Cryptorchidism...	ORPHA:79239
Cerebral Visual Impairment	Optic disc pallor, Optic nerve hypoplasia, Hydrocephalus, Optic atrophy, Retinopathy of prematuri...	ORPHA:447788
Cornelia De Lange Syndrome 1	Delayed eruption of teeth, Ventricular septal defect, Hypospadias, Proteinuria, Ectopic kidney, M...	OMIM:122470
Developmental And Epileptic Encephalopathy 18	Atrial septal defect	OMIM:615476
Hydrocephalus, Congenital, 3, With Brain Anomalies	Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Hydranencephaly, Dandy-Walker malformation	OMIM:617967
Woods Syndrome	Ventricular septal defect	OMIM:615236
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome	Corpus callosum atrophy, Optic atrophy, Cerebral atrophy, Abnormality of visual evoked potentials...	ORPHA:480898
Coffin-Siris Syndrome 5	Atrial septal defect	OMIM:616938
Diarrhea 10, Protein-Losing Enteropathy Type	Cryptorchidism, Renal dysplasia, Polyuria	OMIM:618183
Glutaryl-Coa Dehydrogenase Deficiency	Communicating hydrocephalus, Glutaric aciduria, Chronic kidney disease, Retinal hemorrhage, Subep...	ORPHA:25
Isotretinoin Embryopathy-Like Syndrome	Conotruncal defect, Micrognathia	OMIM:243440
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatomegaly, Ventricular septal defect, Thyroid lymphangiectasia, Micrognathia, Pancreatic lymph...	OMIM:235255
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Atrial septal defect, Ventricular septal defect, Vascular ring	OMIM:603387
Paternal Uniparental Disomy Of Chromosome 5	Secundum atrial septal defect	ORPHA:96190
Ebstein Anomaly	Atrial septal defect, Ebstein anomaly of the tricuspid valve	OMIM:224700
Hydrocephalus, Normal-Pressure, 1	Normal pressure hydrocephalus, Urinary incontinence	OMIM:236690
Ulbright-Hodes Syndrome	Abnormal penis morphology, Short humerus, Short metacarpal, Micrognathia, Hypoplasia of the radiu...	ORPHA:3404
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome	Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Atrial septal defect,...	ORPHA:329224
Hereditary Methemoglobinemia	Methemoglobinemia	ORPHA:621
Mckusick-Kaufman Syndrome	Vesicovaginal fistula, Hydroureter, Hydronephrosis, Polycystic kidney dysplasia	OMIM:236700
Lowry-Wood Syndrome	Abnormality of retinal pigmentation	ORPHA:1824
Peroxisome Biogenesis Disorder 4A (Zellweger)	Hepatomegaly, Renal cyst	OMIM:614862
Campomelia, Cumming Type	Hepatomegaly, Multicystic kidney dysplasia, Micromelia, Pancreatic cysts, Abnormality of the panc...	ORPHA:1318
Cockayne Syndrome Type 3	Optic disc pallor, Neurogenic bladder, Renal insufficiency, Hydroureter, Retinal atrophy, Unilate...	ORPHA:90324
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Hydrocephalus, Optic atrophy	ORPHA:93262
Neurodegeneration With Brain Iron Accumulation 1	Motor tics, Hyperactivity, Urinary incontinence, Optic atrophy, Phonic tics, Pigmentary retinopat...	OMIM:234200
Mulibrey Nanism	Pigmentary retinopathy	OMIM:253250
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Retinal thinning, ...	ORPHA:85167
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Aggressive behavior, Enuresis, Self-injurious behavior, Abnormal autonomic nervous system physiol...	ORPHA:293987
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Microretrognathia, Natal tooth, Rhizomelia, Patent ductus arteriosus, Renal hypoplasia, Renal cys...	OMIM:616300
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Urinary incontinence, Micrognathia, Unilateral radial aplasia, Complete atrioventricular canal de...	ORPHA:476126
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies	Brachycephaly, Craniosynostosis	OMIM:614416
Ciliary Dyskinesia, Primary, 34	Male infertility, Immotile sperm	OMIM:617091
Hemihyperplasia-Multiple Lipomatosis Syndrome	Abnormal venous morphology, Abnormal cerebral vascular morphology, Abnormality of the lymphatic s...	ORPHA:276280
Congenital Sialidosis Type 2	Hypoplasia of the fovea, Abnormality of the kidney, Hydrocephalus, Optic atrophy, Yellow/white le...	ORPHA:93400
Friedreich Ataxia	Abnormality of visual evoked potentials, Decreased sensory nerve conduction velocity, Optic atrop...	OMIM:229300
Microscopic Polyangiitis	Glomerulopathy, Renal insufficiency, Abnormal retinal vascular morphology, Oliguria, Hematuria	ORPHA:727
Atelosteogenesis Type I	Multiple renal cysts, Retinal dysplasia	ORPHA:1190
Craniofaciofrontodigital Syndrome	Prominent superficial veins, Anomalous branches of internal carotid artery, Bicuspid aortic valve...	ORPHA:363705
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Delayed eruption of teeth, Pericardial lymphangiectasia, Ventricular septal defect, Thyroid lymph...	OMIM:235510
Complete Atrioventricular Septal Defect	Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ...	ORPHA:1329
Biemond Syndrome Ii	Hydrocephalus	OMIM:210350
White Forelock With Malformations	Atrial septal defect	ORPHA:2475
Cardiomyopathy, Familial Hypertrophic, 11	Atrial septal defect, Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Subaortic ventri...	OMIM:612098
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Absent gallbladder, Natal tooth, Micrognathia, Complete atrioventricular canal defect, Fibular hy...	OMIM:617925
Joubert Syndrome With Renal Defect	Encephalocele, Renal insufficiency, Aganglionic megacolon, Hydrocephalus, Nephropathy, Agenesis o...	ORPHA:220497
Tetrasomy 15Q26	Hydrocephalus, Dandy-Walker malformation, Hydronephrosis, Horseshoe kidney	OMIM:614846
Potocki-Lupski Syndrome	Atrial septal defect, Patent foramen ovale	OMIM:610883
Parkes Weber Syndrome	Peripheral arteriovenous fistula, Cerebral arteriovenous malformation, Subarachnoid hemorrhage, V...	ORPHA:90307
Alexander Disease	Hydrocephalus, Increased CSF protein concentration	OMIM:203450
Pontocerebellar Hypoplasia, Type 17	Secundum atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:619909
Cutis Marmorata Telangiectatica Congenita	Multicystic kidney dysplasia, Micrognathia, Patent ductus arteriosus, Arterial stenosis, Arteriov...	ORPHA:1556
Burn-Mckeown Syndrome	Atrial septal defect, Ventricular septal defect	OMIM:608572
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Encephalocele, Retinal detachment, Ventriculomegaly, Remnants of the hyaloid vascular system, Opt...	OMIM:614643
Werner Syndrome	Retinal degeneration	OMIM:277700
15Q14 Microdeletion Syndrome	Atrial septal defect, Ventricular septal defect	ORPHA:261190
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Renal malrotation, Multicystic kidney dysplasia, Transient neutropenia, Ventricular septal defect...	ORPHA:500095
Peutz-Jeghers Syndrome	Pancreatic adenocarcinoma, Enlarged polycystic ovaries, Biliary tract neoplasm, Abnormality of th...	ORPHA:2869
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6	Patent foramen ovale	OMIM:615156
Methemoglobinemia And Ambiguous Genitalia	Methemoglobinemia	OMIM:250790
Thanatophoric Dysplasia Type 2	Encephalocele, Abnormality of the kidney, Hydrocephalus, Holoprosencephaly, Ventriculomegaly	ORPHA:93274
Serkal Syndrome	Abnormal penis morphology, Hypoplasia of the bladder, Renal agenesis, Ventricular septal defect, ...	ORPHA:139466
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome	Venous insufficiency, Lymphangioma, Arteriovenous malformation	ORPHA:137608
Lipodystrophy, Familial Partial, Type 7	Pigmentary retinopathy, Orthostatic hypotension, Polyuria, Dysphagia	OMIM:606721
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Secundum atrial septal defect, Leukopenia, Hypoplasia of the thymus, Neutropenia, Hepatomegaly, P...	OMIM:612541
Kleefstra Syndrome 1	Mandibular prognathia, Natal tooth, Hypospadias, Persistence of primary teeth, Abnormal renal mor...	OMIM:610253
Holoprosencephaly-Craniosynostosis Syndrome	Abnormality of retinal pigmentation	ORPHA:2163
Dyrk1A-Related Intellectual Disability Syndrome	Optic disc pallor, Hyperactivity, Hypospadias, Unilateral renal agenesis, Cryptorchidism, Renal c...	ORPHA:464306
Achalasia-Addisonianism-Alacrima Syndrome	Abnormality of visual evoked potentials, Orthostatic hypotension, Optic atrophy, Abnormal autonom...	OMIM:231550
2Q37 Microdeletion Syndrome	Short metacarpal, Multicystic kidney dysplasia, Small hand, Short foot, Abnormal aortic morpholog...	ORPHA:1001
Congenital Gerbode Defect	Ventricular septal defect, Right atrial enlargement, Perimembranous ventricular septal defect, Pu...	ORPHA:99095
Proteus-Like Syndrome	Mandibular prognathia, Thymus hyperplasia, Venous insufficiency, Splenomegaly, Polycystic ovaries	ORPHA:2969
Acro-Renal-Mandibular Syndrome	Abnormality of the sense of smell	ORPHA:958
Suleiman-El-Hattab Syndrome	Atrial septal defect, Ventricular septal defect, Patent foramen ovale	OMIM:618950
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Ventricular septal defect, Micrognathia, Pancreatic lymphangiectasis, Splenomegaly,...	ORPHA:1655
Blepharophimosis, Ptosis, And Epicanthus Inversus	Premature ovarian insufficiency, Irregular menstruation, Female infertility, Amenorrhea	OMIM:110100
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Atrial septal defect	OMIM:619356
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Mandibular prognathia, Micrognathia, Ascending aorta hypoplasia, Micropenis, Pelvic kidney, Hepat...	OMIM:619503
Sweeney-Cox Syndrome	Micrognathia, Asplenia, Patent ductus arteriosus, Short clavicles, Patent foramen ovale, Short di...	OMIM:617746
Hypermethioninemia Due To Adenosine Kinase Deficiency	Secundum atrial septal defect, Cholestasis, Coarctation of aorta, Portal fibrosis, Pulmonic steno...	OMIM:614300
Campomelic Dysplasia	Depressed nasal bridge, Abnormality of the sense of smell	ORPHA:140
Charge Syndrome	Cryptorchidism, Anosmia, Depressed nasal bridge, Choanal atresia	ORPHA:138
Acalvaria	Hydrocephalus, Holoprosencephaly, Spina bifida	ORPHA:945
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties	Atrial septal defect, Pericardial effusion, Multiple muscular ventricular septal defects, Aortic ...	OMIM:620070
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Abnormal heart morpho...	ORPHA:500159
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome	Atrial septal defect	ORPHA:521308
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Acute kidney injury	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Acute kidney injury	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Acute kidney injury	OMIM:612926
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Ureteral duplication, Cholangitis, Micrognathia, Short metatarsal, Renal cyst, Hepatic fibrosis, ...	OMIM:266920
Craniosynostosis 2	Frontal bossing, Turricephaly, Craniosynostosis, Unicoronal synostosis, Brachycephaly, Trigonocep...	OMIM:604757
Schuurs-Hoeijmakers Syndrome	Patent foramen ovale, Patent ductus arteriosus, Abnormal cardiac septum morphology, Bicuspid aort...	OMIM:615009
Hajdu-Cheney Syndrome	Hepatomegaly, Ventricular septal defect, Mitral stenosis, Hypospadias, Micrognathia, Absent front...	ORPHA:955
Isolated Succinate-Coq Reductase Deficiency	Pigmentary retinopathy	ORPHA:3208
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Retinal pigment epithelial mottling	OMIM:617102
Mucopolysaccharidosis, Type Ii	Papilledema, Abnormality of retinal pigmentation, Heparan sulfate excretion in urine, Hydrocephal...	OMIM:309900
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Restrictive cardiomyopathy, Patent foramen ovale	ORPHA:88630
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome	Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia, Abnormality of the urethra, ...	ORPHA:2973
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Impulsivity, Aggressive behavior, Dilated third ventricle, Cryptorchidism, Hydrocephalus, Abnorma...	ORPHA:500055
Temple Syndrome	Cryptorchidism, Hydrocephalus, Polyphagia	ORPHA:254516
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Acute kidney injury	OMIM:612924
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Retinal pigment epithelial mottling	OMIM:614105
Smith-Lemli-Opitz Syndrome	Micromelia, Micrognathia, Renal cyst, Atrial septal defect, Micropenis, Hepatic steatosis, Penosc...	OMIM:270400
Pontocerebellar Hypoplasia, Type 7	Cryptorchidism, Hydrocephalus, Optic atrophy, Micropenis, Ventriculomegaly	OMIM:614969
Crouzon Syndrome	Hydrocephalus, Optic atrophy	ORPHA:207
Greig Cephalopolysyndactyly Syndrome	Hydrocephalus, Agenesis of corpus callosum	ORPHA:380
Developmental And Epileptic Encephalopathy 49	Hyperactivity, Dysplastic corpus callosum, Hydrocephalus, Optic atrophy, Dandy-Walker malformatio...	OMIM:617281
Immunodeficiency 110 With Lymphoproliferation	Autoimmune hemolytic anemia, Secundum atrial septal defect, Neutropenia, Lymphopenia, Patent fora...	OMIM:614868
Ciliary Dyskinesia, Primary, 22	Nasal polyposis, Rhinitis, Recurrent sinusitis, Absent inner and outer dynein arms	OMIM:615444
Duplication Of Urethra	Urethral stricture, Recurrent urinary tract infections, Anuria, Hypospadias, Urinary incontinence...	ORPHA:237
Beta-Thalassemia Intermedia	Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate production, Splenom...	ORPHA:231222
Microphthalmia, Syndromic 2	Delayed eruption of teeth, Ventricular septal defect, Dextrocardia, Hypospadias, Persistence of p...	OMIM:300166
Snijders Blok-Campeau Syndrome	Atrial septal defect, Perimembranous ventricular septal defect, Pulmonic stenosis	OMIM:618205
Rhombencephalosynapsis	Septo-optic dysplasia, Aganglionic megacolon, Hydrocephalus, Abnormal renal morphology, Ventricul...	ORPHA:59315
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Bicuspid aortic valve, Muscular ventricular septal defect, Patent ductus arteriosus, Coarctation ...	OMIM:612474
Viss Syndrome	Tortuous cerebral arteries, Epidural hemorrhage, Micrognathia, Right ventricular dilatation, Atri...	OMIM:619472
Hydrolethalus Syndrome 2	Agenesis of corpus callosum, Hydrocephalus, Anencephaly, Ventriculomegaly	OMIM:614120
Pai Syndrome	Nasal polyposis, Depressed nasal bridge, Midline defect of the nose	ORPHA:1993
Frontal Encephalocele	Encephalocele, Hydrocephalus, Spina bifida	ORPHA:1931
Skraban-Deardorff Syndrome	Right aortic arch, Ventricular septal defect	OMIM:617616
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency	Venous insufficiency, Abnormal cerebral vascular morphology	ORPHA:745
Absence Of The Pulmonary Artery	Abnormal coronary artery morphology, Cardiomegaly, Patent ductus arteriosus, Abnormal heart morph...	ORPHA:980
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Ventricular septal defect, Pericardial effusion, Normochromic anemia, Cholelithiasis, Hypertrophi...	OMIM:618775
Ciliary Dyskinesia, Primary, 2	Nasal polyposis, Absent inner and outer dynein arms	OMIM:606763
Sturge-Weber Syndrome	Retinal detachment, Abnormal retinal vascular morphology, Hydrocephalus, Optic atrophy, Abnormal ...	ORPHA:3205
Joubert Syndrome With Ocular Defect	Encephalocele, Aganglionic megacolon, Retinal dystrophy, Hydrocephalus, Retinal coloboma, Agenesi...	ORPHA:220493
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale	OMIM:618870
Thrombocytopenia-Absent Radius Syndrome	Ureteral duplication, Micrognathia, Vesicoureteral reflux, Axial malrotation of the kidney, Atria...	OMIM:274000
D-Bifunctional Protein Deficiency	Hepatomegaly, Micrognathia, Splenomegaly, Cholestasis, Renal cyst, Bile duct proliferation, Retro...	OMIM:261515
Czeizel-Losonci Syndrome	Spina bifida, Myelomeningocele, Hydrocephalus, Ureteral agenesis, Abnormality of the urinary syst...	ORPHA:2437
Hydrocephalus-Obesity-Hypogonadism Syndrome	Azoospermia, Hydrocephalus	ORPHA:2183
Plasminogen Deficiency, Type I	Ventriculomegaly, Hydrocephalus, Nephrolithiasis, Nephritis, Dandy-Walker malformation	OMIM:217090
Zechi-Ceide Syndrome	Atrial septal defect, Abnormal heart morphology	ORPHA:217017
Emanuel Syndrome	Ventriculomegaly, Unilateral renal agenesis, Cryptorchidism, Hydrocephalus, Renal hypoplasia, Dys...	ORPHA:96170
Sifrim-Hitz-Weiss Syndrome	Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Atrial septal defect, ...	OMIM:617159
Omphalocele-Cleft Palate Syndrome, Lethal	Hydrocephalus	OMIM:258320
Pseudoxanthoma Elasticum, Forme Fruste	Macular degeneration, Retinal hemorrhage, Angioid streaks of the fundus	OMIM:177850
Radial Aplasia, X-Linked	Hydrocephalus, Penile hypospadias	OMIM:312190
Congenital Heart Block	Pericardial effusion, Patent ductus arteriosus, Patent foramen ovale, Endocardial fibroelastosis	ORPHA:60041
Aicardi-Goutieres Syndrome 4	Hydrocephalus, Ventriculomegaly, CSF lymphocytic pleiocytosis	OMIM:610333
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis	Hydrocephalus	ORPHA:1516
Cockayne Syndrome	Abnormality of retinal pigmentation, Neurogenic bladder, Renal insufficiency, Proteinuria, Urinar...	ORPHA:191
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Nephrocalcinosis, Aminoaciduria, Rod-cone dystrophy, Communicating hydrocephalus	OMIM:616084
8Q24.3 Microdeletion Syndrome	Micromelia, Bilateral renal hypoplasia, Vesicoureteral reflux, Atrioventricular canal defect, Pel...	ORPHA:508488
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Cerebellar dysplasia, Retinal atrophy, Hydrocephalus, Optic atrophy, Hypoplasia of the retina, Re...	OMIM:253280
Lambotte Syndrome	Ventricular septal defect	OMIM:245552
Albers-Schönberg Osteopetrosis	Hydrocephalus, Optic atrophy, Facial palsy	ORPHA:53
Neurodevelopmental Disorder With Language Delay And Seizures	Ventricular septal defect	OMIM:619908
15Q Overgrowth Syndrome	Ureterovesical stenosis, Hydrocephalus, Abnormal renal morphology, Horseshoe kidney, Congenital s...	ORPHA:314585
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Hydrocephalus, Optic atrophy, Inappropriate laughter, Dandy-Walker malformation, Agenesis of corp...	OMIM:618476
Immunodeficiency 13	Recurrent sinusitis, Nasal polyposis, Recurrent upper respiratory tract infections	OMIM:615518
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Ventricular septal defect, Hypospadias, Micrognathia, Patent ductus arteriosus, Renal cyst, Vesic...	OMIM:616975
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Hypoplasia of penis, Hypospadias, Cryptorchidism, Hydrocephalus, Holoprosencephaly, Agenesis of c...	ORPHA:77298
Chromosome 6Pter-P24 Deletion Syndrome	Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Tetralogy of Fallot, P...	OMIM:612582
Von Hippel-Lindau Disease	Papilledema, Retinal detachment, Hypertensive retinopathy, Elevated urinary catecholamine level, ...	ORPHA:892
Wolfram Syndrome 1	Pigmentary retinopathy, Optic atrophy	OMIM:222300
Filippi Syndrome	Ventricular septal defect	OMIM:272440
Craniofacioskeletal Syndrome	Absent gallbladder, Hypospadias, Ventricular septal defect, Micrognathia, Patent ductus arteriosu...	OMIM:300712
Focal Dermal Hypoplasia	Multicystic kidney dysplasia, Ventricular septal defect, Abnormal dental enamel morphology, Renal...	ORPHA:2092
Coffin-Siris Syndrome 6	Atrial septal defect	OMIM:617808
Ellis Van Creveld Syndrome	Delayed eruption of teeth, Hydroureter, Ventricular septal defect, Dextrocardia, Abnormal heart v...	ORPHA:289
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa	Nasal polyposis	OMIM:155145
Noonan Syndrome 2	Abnormal coronary artery origin, Mitral stenosis, Ventricular septal defect, Patent ductus arteri...	OMIM:605275
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy	Atrial septal defect	OMIM:611087
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	ORPHA:2519
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Atrial septal defect, Hyposegmentation of neutrophil nuclei, Patent foramen ovale	OMIM:620075
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome	Atrial septal defect	ORPHA:500533
Emanuel Syndrome	Recurrent urinary tract infections, Ventriculomegaly, Unilateral renal agenesis, Cryptorchidism, ...	OMIM:609029
Lymphangioleiomyomatosis	Abnormal urinary color, Renal neoplasm, Retinal hamartoma, Hydrocephalus, Optic atrophy, Hematuri...	ORPHA:538
Alexander Disease Type I	Hydrocephalus, Dysphagia	ORPHA:363717
Rhizomelic Limb Shortening With Dysmorphic Features	Patent foramen ovale	OMIM:618821
Houge-Janssens Syndrome 3	Atrial septal defect, Muscular ventricular septal defect	OMIM:618354
Young-Onset Parkinson Disease	Hyposmia	ORPHA:2828
Mucopolysaccharidosis Type 2	Communicating hydrocephalus, Papilledema, Abnormality of retinal pigmentation, Hyperactivity, Imp...	ORPHA:580
Chiari Malformation Type Ii	Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Dysphagia, Agenesis of corpus...	OMIM:207950
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Pigmentary retinopathy, Rod-cone dystrophy	ORPHA:2235
Histiocytoid Cardiomyopathy	Hydrocephalus, Optic atrophy, Renal cyst, Polycystic ovaries, Agenesis of corpus callosum	ORPHA:137675
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Hyperactivity, Optic nerve hypoplasia, Unilateral renal agenesis, Hydrocephalus, Agenesis of corp...	ORPHA:457284
Xeroderma Pigmentosum, Complementation Group B	Decreased nerve conduction velocity, Pigmentary retinopathy, Freckling, Optic atrophy	OMIM:610651
Thanatophoric Dysplasia	Atrial septal defect, Patent ductus arteriosus	ORPHA:2655
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities	Optic disc pallor, Optic atrophy, Pigmentary retinopathy	OMIM:617282
Pelger-Huet Anomaly	Ventricular septal defect, Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Gia...	OMIM:169400
Lujan-Fryns Syndrome	Atrial septal defect	ORPHA:776
Mycophenolate Mofetil Embryopathy	Hydrocephalus, Agenesis of corpus callosum, Chorioretinal coloboma, Ectopic kidney	ORPHA:268249
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Ventricular septal defect	ORPHA:93267
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Hyperactivity, Retinal dystrophy, Aqueductal stenosis, Cryptorchidism, Fetal pyelectasis, Hydroce...	OMIM:619512
Hand-Foot-Genital Syndrome	Shortening of all middle phalanges of the fingers, Recurrent urinary tract infections, Ventricula...	ORPHA:2438
16P12.1P12.3 Triplication Syndrome	Atrial septal defect, Abnormal tricuspid valve morphology, Abnormal intrahepatic bile duct morpho...	ORPHA:485405
Penile Agenesis	Urethral atresia, male, Ventricular septal defect, Hydroureter, Fetal pyelectasis, Bilateral rena...	ORPHA:49
Ethylene Glycol Poisoning	Renal insufficiency, Facial palsy, Renal tubular epithelial necrosis, Renal tubular dysfunction, ...	ORPHA:31826
Nephronophthisis-Like Nephropathy 1	Tubular basement membrane disintegration, Chronic pancreatitis, Pancreatic cysts, Stage 5 chronic...	OMIM:613159
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Muscular ventricular septal defect, Patent ductus arteriosus, Abnormal heart morphology, Perimemb...	ORPHA:363444
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Chronic active hepatitis, Asplenia, Nephrocalcinosis, Cholelithiasis, Enamel hypoplasia	OMIM:240300
Autosomal Recessive Robinow Syndrome	Hypoplasia of penis, Multicystic kidney dysplasia, Ventricular septal defect, Abnormal pulmonary ...	ORPHA:1507
Encephalocraniocutaneous Lipomatosis	Cryptorchidism, Hydrocephalus, Pelvic kidney, Agenesis of corpus callosum, Hydronephrosis, Dandy-...	OMIM:613001
Congenital Bile Acid Synthesis Defect Type 4	Pigmentary retinopathy	ORPHA:79095
Cohen Syndrome	Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal dystrophy, Bull's eye macul...	OMIM:216550
Harrod Syndrome	Multicystic kidney dysplasia, Hypospadias, Dental malocclusion	ORPHA:2115
Mannosidosis, Alpha B, Lysosomal	Cerebellar atrophy, Retinal degeneration	OMIM:248500
Ferguson-Bonni Neurodevelopmental Syndrome	Patent foramen ovale, Coronary-pulmonary artery fistula	OMIM:619699
Genetic Recurrent Myoglobinuria	Dark urine, Renal insufficiency, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Oliguri...	ORPHA:99845
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Multiple cafe-au-lait spots, Abnormality of retinal pigmentation, Melanocytic nevus, Generalized ...	ORPHA:1969
Phace Association	Anomalous branches of internal carotid artery, Ventricular septal defect, Patent ductus arteriosu...	OMIM:606519
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Macroorchidism, Hydrocephalus	OMIM:300886
Methylcobalamin Deficiency Type Cble	Hemolytic-uremic syndrome, Glomerulopathy, Hydrocephalus, Ventriculomegaly	ORPHA:2169
Lacrimoauriculodentodigital Syndrome	Cryptorchidism, Anosmia, Choanal atresia	ORPHA:2363
Attenuated Familial Adenomatous Polyposis	Multiple renal cysts, Congenital hypertrophy of retinal pigment epithelium	ORPHA:220460
Lymphatic Malformation 7	Pericardial effusion, Atrial septal defect, Anemia, Varicose veins	OMIM:617300
Stevenson-Carey Syndrome	Atrial septal defect, Left superior vena cava draining to coronary sinus	OMIM:611961
Severe Generalized Junctional Epidermolysis Bullosa	Urethral stricture, Duplicated collecting system, Multicystic kidney dysplasia, Recurrent urinary...	ORPHA:79404
Inverted Duplicated Chromosome 15 Syndrome	Tetralogy of Fallot, Ventricular septal defect	ORPHA:3306
Hamamy Syndrome	Micrognathia, Microcytic anemia, Complete atrioventricular canal defect, Dental malocclusion, Hyp...	OMIM:611174
Mosaic Trisomy 16	Ventricular septal defect, Hypospadias, Short thumb, Patent ductus arteriosus, Horseshoe kidney, ...	ORPHA:1708
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Atrial septal defect, Patent ductus arteriosus, Patent foramen ovale	OMIM:620327
Short Stature And Facioauriculothoracic Malformations	Ventricular septal defect	OMIM:609654
Oculoauriculofrontonasal Syndrome	Ventricular septal defect	ORPHA:398156
Intellectual Developmental Disorder, Autosomal Recessive 71	Ventricular septal defect	OMIM:618504
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Atrial septal defect, Hypoplastic left heart, Bicuspid aortic valve	OMIM:619721
Osteopathia Striata With Cranial Sclerosis	Natal tooth, Multicystic kidney dysplasia, Paranasal sinus hypoplasia, Ventricular septal defect,...	OMIM:300373
Ciliary Dyskinesia, Primary, 35	Nasal polyposis, Chronic rhinitis	OMIM:617092
Tatton-Brown-Rahman Syndrome	Atrial septal defect, Ventricular septal defect	OMIM:615879
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Atrial septal defect, Eosinophilia, Pulmonic stenosis	OMIM:618282
Hec Syndrome	Abnormal retinal vascular morphology, Communicating hydrocephalus, Vaginal hydrocele	ORPHA:2119
Kniest Dysplasia	Retinal detachment, Rhegmatogenous retinal detachment, Lattice retinal degeneration, Vitreoretino...	ORPHA:485
Fanconi Anemia, Complementation Group Q	Biliary atresia, Bone marrow hypocellularity, Primum atrial septal defect	OMIM:615272
Bare Lymphocyte Syndrome, Type I	Nasal polyposis	OMIM:604571
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	HbH hemoglobin, Microcytic anemia	ORPHA:98791
Kapur-Toriello Syndrome	Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect	ORPHA:2328
Acrocardiofacial Syndrome	Ventricular septal defect, Mitral stenosis, Coarctation of aorta, Atrial septal defect, Truncus a...	ORPHA:2008
Papillary Tumor Of The Pineal Region	Hydrocephalus, Increased CSF protein concentration	ORPHA:251915
Mosaic Variegated Aneuploidy Syndrome	Multicystic kidney dysplasia, Micrognathia, Coarctation of aorta, Acute lymphoblastic leukemia, A...	ORPHA:1052
Trisomy 20P	Hypospadias, Abnormality of the kidney, Spina bifida, Cryptorchidism, Abnormality of the ureter, ...	ORPHA:261318
Tetrasomy 9P	Micrognathia, Biliary atresia, Micropenis, Patent foramen ovale, Amelogenesis imperfecta, Absent ...	ORPHA:3310
Nasu-Hakola Disease	Hydrocephalus, Disinhibition, Ventriculomegaly	ORPHA:2770
Cerebellar, Ocular, Craniofacial, And Genital Syndrome	Hypoplasia of the pons, Retinal degeneration, Cerebellar hypoplasia, Dandy-Walker malformation	OMIM:618479
Lowry-Wood Syndrome	Pigmentary retinopathy	OMIM:226960
Leopard Syndrome 1	Mandibular prognathia, Hypospadias, Unilateral renal agenesis, Missing ribs, Complete atrioventri...	OMIM:151100
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius	Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum, Holoprosencephaly	ORPHA:2182
Ciliary Dyskinesia, Primary, 15	Abnormal axonemal organization of respiratory motile cilia, Nasal polyposis	OMIM:613808
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1	Atrial septal defect	OMIM:619115
Waardenburg Syndrome Type 3	Atrial septal defect	ORPHA:896
Aase-Smith Syndrome I	Ventricular septal defect	OMIM:147800
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Pigmentary retinopathy	OMIM:600462
Hardikar Syndrome	Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vesicoureteral reflux, Atrial septal...	OMIM:301068
Fg Syndrome Type 1	Hypospadias, Optic nerve hypoplasia, Cryptorchidism, Hydrocephalus, Attention deficit hyperactivi...	ORPHA:93932
Jansen-De Vries Syndrome	Ventricular septal defect, Bicuspid aortic valve	OMIM:617450
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Abnormal auditory evoked potentials	OMIM:109120
Pseudo-Torch Syndrome 1	Hepatomegaly, Splenomegaly, Jaundice, Patent ductus arteriosus, Patent foramen ovale, Thrombocyto...	OMIM:251290
Meier-Gorlin Syndrome 7	Urethral stricture, Ventricular septal defect, Hypospadias, Aplasia/Hypoplasia of the patella, Co...	OMIM:617063
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Left ventricular hypertrophy, Ventricular septal defect, Patent foramen ovale, Biventricular hype...	OMIM:615474
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency	Venous insufficiency, Abnormal cerebral vascular morphology	ORPHA:743
Arachnoiditis	Hydrocephalus, Urinary bladder sphincter dysfunction	ORPHA:137817
Hemimegalencephaly	Cranial asymmetry	ORPHA:99802
Desbuquois Syndrome	Ventricular septal defect	ORPHA:1425
7Q11.23 Microduplication Syndrome	Collectionism, Hyperactivity, Hypospadias, Unilateral renal agenesis, Aggressive behavior, Crypto...	ORPHA:96121
3P25.3 Microdeletion Syndrome	Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Cor...	ORPHA:435638
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Optic disc pallor, Hydrocephalus, Nasofrontal encephalocele, Ventriculomegaly	OMIM:614195
Loeys-Dietz Syndrome 6	Ventricular hypertrophy, Carotid artery dissection, Thoracic aortic aneurysm, Varicose veins, Dil...	OMIM:619656
17Q12 Microdeletion Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Ureterocele, Pancrea...	ORPHA:261265
Noonan Syndrome 10	Mitral stenosis, Ventricular septal defect, Patent ductus arteriosus, Mitral valve prolapse, Coar...	OMIM:616564
Kleefstra Syndrome Due To 9Q34 Microdeletion	Hypoplasia of penis, Renal insufficiency, Conotruncal defect, Coarctation of aorta, Abnormal card...	ORPHA:96147
Immunodeficiency 96	Multicystic kidney dysplasia, Increased mean corpuscular volume, Increased proportion of gamma-de...	OMIM:619774
Warsaw Breakage Syndrome	Tetralogy of Fallot, Ventricular septal defect	OMIM:613398
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Hydrocephalus, Optic atrophy, Ventriculomegaly	ORPHA:60040
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Abnormality of retinal pigmentation, Proteinuria, Heparan sulfate excretion in urine, Hydrocephal...	ORPHA:505248
Triploidy	Hypoplasia of penis, Hypospadias, Cryptorchidism, Hydrocephalus, Meningocele, Holoprosencephaly	ORPHA:3376
Metachromatic Leukodystrophy, Late Infantile Form	Decreased nerve conduction velocity, Optic atrophy, Abnormality of visual evoked potentials	ORPHA:309256
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Unilateral renal agenesis, Cryptorchidism, Hydrocephalus, Vesicoureteral reflux, Micropenis	OMIM:619951
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Neoplasm of the heart, Multicystic kidney dysplasia, Hydroureter, Megacystis	ORPHA:2241
Carpenter Syndrome 2	Dextrocardia, Situs inversus totalis, Patent ductus arteriosus, Transposition of the great arteri...	OMIM:614976
Linear Skin Defects With Multiple Congenital Anomalies 1	Hypospadias, Hydrocephalus, Pigmentary retinopathy, Colpocephaly, Chordee, Micropenis, Agenesis o...	OMIM:309801
Mucopolysaccharidosis-Plus Syndrome	Hepatomegaly, Thrombocytopenia, Splenomegaly, Patent ductus arteriosus, Leukopenia, Macrovesicula...	OMIM:617303
Cockayne Syndrome A	Renal insufficiency, Retinal atrophy, Proteinuria, Abnormal auditory evoked potentials, Decreased...	OMIM:216400
Vacterl With Hydrocephalus	Renal agenesis, Spina bifida, Renal hypoplasia/aplasia, Aqueductal stenosis, Cryptorchidism, Hydr...	ORPHA:3412
1P36 Deletion Syndrome	Aortic arch aneurysm, 11 pairs of ribs, Hypoplasia of penis, Abnormal heart valve morphology, Hyp...	ORPHA:1606
Agnathia-Otocephaly Complex	Secundum atrial septal defect, Situs inversus totalis	OMIM:202650
Noonan Syndrome 5	Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis	OMIM:611553
Enlarged Parietal Foramina	Abnormal cerebral vein morphology, Short clavicles, Venous malformation	ORPHA:60015
Fanconi Anemia, Complementation Group L	Chromosome breakage, Unilateral renal agenesis, Hydrocephalus, Renal hypoplasia, Attention defici...	OMIM:614083
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies	Atrial septal defect, Ventricular septal defect	OMIM:617452
Bohring-Opitz Syndrome	Ventriculomegaly, Retinal atrophy, Optic atrophy, Urinary retention, Nephroblastoma, Agenesis of ...	ORPHA:97297
Noonan Syndrome 4	Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy, ...	OMIM:610733
Central Neurocytoma	Abnormal lateral ventricle morphology, Hydrocephalus	ORPHA:73256
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Ventricular septal defect	OMIM:601357
Contractural Arachnodactyly, Congenital	Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Mitral valve prolapse...	OMIM:121050
Osteopetrosis, Autosomal Recessive 2	Cranial nerve compression, Facial paralysis, Optic atrophy, Hydrocephalus	OMIM:259710
Cerebrocostomandibular Syndrome	Multicystic kidney dysplasia, Ventricular septal defect, Micrognathia	ORPHA:1393
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1	Atrial septal defect, Mitral stenosis, Hypoplastic left heart, Aortic valve stenosis	OMIM:617660
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Ventricular septal defect, Pericardial effusion, Jaundice, Dilated cardiomyopathy, ...	ORPHA:26793
Ritscher-Schinzel Syndrome 2	Atrial septal defect, Pulmonary artery hypoplasia, Patent ductus arteriosus, Ventricular septal d...	OMIM:300963
Renal Tubular Dysgenesis	Renotubular dysgenesis, Abnormality of the urinary system, Anuria	OMIM:267430
Keutel Syndrome	Pulmonary artery stenosis, Ventricular septal defect	ORPHA:85202
Achard Syndrome	Broad skull, Brachycephaly	OMIM:100700
Isolated Klippel-Feil Syndrome	Ventricular septal defect	ORPHA:2345
Familial Adenomatous Polyposis 4	Ovarian cyst, Renal cyst	OMIM:617100
Myopathy With Extrapyramidal Signs	Splenomegaly, Hepatomegaly, Leukocytosis, Ventricular septal defect	OMIM:615673
Seckel Syndrome 9	Atrial septal defect, Pulmonary artery hypoplasia, Ventricular septal defect	OMIM:616777
Intellectual Developmental Disorder, Autosomal Recessive 68	Hydrocephalus	OMIM:618302
Intellectual Developmental Disorder, Autosomal Dominant 48	Patent ductus arteriosus, Ventricular septal defect, Bicuspid aortic valve	OMIM:617751
Vater/Vacterl Association	Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect, Transposition of the gr...	OMIM:192350
Chromosome 17Q12 Duplication Syndrome	Atrial septal defect	OMIM:614526
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	ORPHA:457193
Pseudo-Torch Syndrome 2	Hepatomegaly, Cerebral hemorrhage, Secundum atrial septal defect, Patent ductus arteriosus, Throm...	OMIM:617397
Phaver Syndrome	Pulmonary artery atresia, Hypoplastic aortic arch, Ventricular septal defect, Coarctation of aorta	ORPHA:2876
Metachromatic Leukodystrophy, Juvenile Form	Decreased nerve conduction velocity, Optic atrophy, Abnormality of visual evoked potentials	ORPHA:309263
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome...	OMIM:620066
Tatton-Brown-Rahman Syndrome	Atrial septal defect, Myeloid leukemia, Patent ductus arteriosus, Aortic root aneurysm	ORPHA:404443
Kearns-Sayre Syndrome	Pigmentary retinopathy	OMIM:530000
Spinocerebellar Ataxia Type 7	Cerebellar atrophy, Macular degeneration, Abnormal fundus morphology, Cone/cone-rod dystrophy	ORPHA:94147
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Ventricular septal defect, Abnormal heart morphology	ORPHA:254534
Acute Monoblastic/Monocytic Leukemia	Oliguria, Anorexia	ORPHA:514
Glutaric Acidemia I	Glutaric aciduria, Hydrocephalus, Ketonuria, Lateral ventricle dilatation	OMIM:231670
Neu-Laxova Syndrome 1	Patent ductus arteriosus, Ventricular septal defect, Patent foramen ovale, Transposition of the g...	OMIM:256520
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Hepatomegaly, Pancytopenia, Dextrocardia, Megaloblastic anemia, Thrombocytopenia, Patent ductus a...	OMIM:277380
Intellectual Developmental Disorder, Autosomal Dominant 65	Aggressive behavior, Noncommunicating hydrocephalus, Attention deficit hyperactivity disorder, Co...	OMIM:619320
Restrictive Dermopathy	Dextrocardia, Patent ductus arteriosus, Ascending tubular aorta aneurysm, Transposition of the gr...	ORPHA:1662
Congenital Tracheomalacia	Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Partial anomalous pulmonary ve...	ORPHA:95430
Intellectual Developmental Disorder, Autosomal Recessive 65	Secundum atrial septal defect, Atrial septal defect	OMIM:618109
Teebi Hypertelorism Syndrome 1	Atrial septal defect, Aortic root aneurysm, Ventricular septal defect	OMIM:145420
Moebius Syndrome	Abnormality of the sense of smell	ORPHA:570
Cancer-Associated Retinopathy	Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Foveal hyporeflective spa...	ORPHA:71505
Smith-Lemli-Opitz Syndrome	Ureteropelvic junction obstruction, Hypoplasia of penis, Multicystic kidney dysplasia, Ventricula...	ORPHA:818
Ciliary Dyskinesia, Primary, 9	Male infertility	OMIM:612444
Ehlers-Danlos Syndrome, Musculocontractural Type, 2	Patent foramen ovale, Mitral valve prolapse	OMIM:615539
Acquired Methemoglobinemia	Methemoglobinemia	ORPHA:464453
Renal Agenesis	Renal insufficiency, Renal agenesis, Ventricular septal defect, Unilateral renal agenesis, Protei...	ORPHA:411709
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ...	ORPHA:231226
Diamond-Blackfan Anemia	Radial artery aplasia, Pure red cell aplasia, Micrognathia, Reticulocytopenia, Leukopenia, Neutro...	ORPHA:124
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Hydrocephalus, Optic atrophy, Homocystinuria, Ventriculomegaly	ORPHA:395
Arachnoid Cyst	Encephalocele, Enlarged fossa interpeduncularis, Facial palsy, Urinary incontinence, Cranial nerv...	ORPHA:2356
Fanconi Anemia, Complementation Group N	Aplastic anemia, Nephroblastoma, Short thumb, Ventricular septal defect	OMIM:610832
Prolidase Deficiency	Abnormality of retinal pigmentation, White forelock	ORPHA:742
Osteopetrosis With Renal Tubular Acidosis	Retinal atrophy, Abnormal retinal morphology, Cranial nerve compression, Optic atrophy, Nephrolit...	ORPHA:2785
Holoprosencephaly 14	Ventricular septal defect, Double outlet right ventricle, Aortic valve atresia	OMIM:619895
Orofaciodigital Syndrome Type 1	Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Abnormal dental enamel morphology...	ORPHA:2750
Rabin-Pappas Syndrome	Retinal detachment, Hydrocephalus, Optic nerve hypoplasia, Retinal telangiectasia	OMIM:620155
Diffuse Cutaneous Systemic Sclerosis	Renal insufficiency, Oliguria, Dysphagia	ORPHA:220393
Chromosome 6Q24-Q25 Deletion Syndrome	Patent ductus arteriosus, Dysplastic tricuspid valve, Mitral valve prolapse, Right ventricular di...	OMIM:612863
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Cryptorchidism, Hydrocephalus	ORPHA:2701
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome	Atrial septal defect, Ventricular septal defect	ORPHA:505237
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Hepatomegaly, Dilated cardiomyopathy, Left ventricular noncompaction, Left ventricular hypertroph...	OMIM:619167
Coffin-Siris Syndrome 7	Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve	OMIM:618027
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Secundum atrial septal defect, Cardiomyopathy, Patent ductus arteriosus, Patent foramen ovale	OMIM:616866
Systemic Capillary Leak Syndrome	Renal insufficiency, Oliguria, Abnormal renal tubule morphology	ORPHA:188
Ciliary Dyskinesia, Primary, 18	Male infertility, Immotile sperm	OMIM:614874
Brain-Lung-Thyroid Syndrome	Hyperactivity, Hypospadias, Abnormal eating behavior, Megacystis, Abnormal drinking behavior, Com...	ORPHA:209905
Beta-Thalassemia Major	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anemia of inad...	ORPHA:231214
Doors Syndrome	Increased urine alpha-ketoglutarate concentration, 11 pairs of ribs, Aplasia/Hypoplasia of the ph...	ORPHA:79500
Ciliary Dyskinesia, Primary, 5	Recurrent sinusitis, Nasal polyposis, Chronic rhinitis	OMIM:608647
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:617061
Hemorrhagic Fever-Renal Syndrome	Anuria, Proteinuria, Glomerulonephritis, Chronic kidney disease, Oliguria, Acute tubulointerstiti...	ORPHA:340
Oculocerebral Hypopigmentation Syndrome, Preus Type	Hydrocephalus, Ocular albinism, Abnormal renal tubule morphology	ORPHA:2720
Noonan Syndrome 3	Juvenile myelomonocytic leukemia, Ventricular septal defect, Patent ductus arteriosus, Mitral val...	OMIM:609942
Jacobsen Syndrome	Multicystic kidney dysplasia, Ventricular septal defect, Missing ribs, Short toe, Annular pancrea...	ORPHA:2308
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Hypospadias, Optic nerve hypoplasia, Aggressive behavior, Cryptorchidism, Renal cyst, Attention d...	ORPHA:495875
Car T Cell Therapy-Associated Cytokine Release Syndrome	Acute kidney injury, Decreased urine output	ORPHA:542323
Neurooculorenal Syndrome	Hypoplasia of the bladder, Unilateral renal agenesis, Aqueductal stenosis, Cryptorchidism, Hydroc...	OMIM:620305
Hydrocephalus, Congenital, X-Linked	Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum	OMIM:307000
Alazami Syndrome	Atrial septal defect	ORPHA:319671
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Ventricular septal defect, Hypospadias, Absent pulmonary artery, Patent ductus arteriosus, Coarct...	OMIM:600460
Exstrophy-Epispadias Complex	Renal insufficiency, Bladder fistula, Urinary incontinence, Abnormality of the kidney, Spina bifi...	ORPHA:322
Periventricular Nodular Heterotopia 7	Ventricular septal defect	OMIM:617201
Brachydactyly, Type B1	Ventricular septal defect	OMIM:113000
Beare-Stevenson Cutis Gyrata Syndrome	Hypospadias, Hydrocephalus, Optic atrophy, Agenesis of corpus callosum, Ventriculomegaly	OMIM:123790
Insulin-Like Growth Factor I, Resistance To	Atrial septal defect, Ventricular septal defect, Patent foramen ovale	OMIM:270450
Recombinant 8 Syndrome	Ventricular septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Atrial septal def...	ORPHA:96167
Endocrine-Cerebroosteodysplasia	Ventriculomegaly, Hypospadias, Cryptorchidism, Hydrocephalus, Microphallus, Holoprosencephaly, Hy...	OMIM:612651
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Hydrocephalus, Head-banging, Renal tubular acidosis, Self-injurious behavior, Lateral ventricle d...	OMIM:619575
Alagille Syndrome	Hepatomegaly, Ventricular septal defect, Cholestasis, Reduced number of intrahepatic bile ducts, ...	ORPHA:52
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Ventricular septal defect, Patent foramen ovale, Abnormal heart morphology	ORPHA:369891
Glomuvenous Malformation	Abnormal renal morphology, Gastrointestinal arteriovenous malformation, Arteriovenous malformatio...	ORPHA:83454
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphology, Atrial septal defect...	ORPHA:457279
Donnai-Barrow Syndrome	Ventricular septal defect	ORPHA:2143
Intellectual Developmental Disorder, Autosomal Dominant 47	Ventricular septal defect	OMIM:617635
Renal Nutcracker Syndrome	Proteinuria, Vulval varicose vein, Hematuria, Varicose veins, Renal artery stenosis, Microscopic ...	ORPHA:71273
Noonan Syndrome 7	Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis	OMIM:613706
Diamond-Blackfan Anemia 1	Micrognathia, Reticulocytopenia, Hypoplastic coccygeal vertebrae, Neutropenia, Atrial septal defe...	OMIM:105650
Lassa Fever	Oliguria, Dysphagia	ORPHA:99824
Von Hippel-Lindau Syndrome	Neoplasm of the pancreas, Pancreatic cysts, Renal cell carcinoma, Multiple renal cysts, Hepatic h...	OMIM:193300
1Q21.1 Microdeletion Syndrome	Cryptorchidism, Hydrocephalus, Attention deficit hyperactivity disorder, Vesicoureteral reflux, A...	ORPHA:250989
Myopathy, Centronuclear, X-Linked	Cryptorchidism, Hydrocephalus, Facial palsy, Dandy-Walker malformation	OMIM:310400
Mitochondrial Trifunctional Protein Deficiency 1	Pigmentary retinopathy	OMIM:609015
Acrodysostosis 1 With Or Without Hormone Resistance	Cryptorchidism, Hydrocephalus, Optic atrophy, Unilateral renal agenesis	OMIM:101800
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Atrial septal defect, Hepatomegaly, Hypertrophic cardiomyopathy	OMIM:619383
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Retinal dystrophy, Optic nerve hypoplasia, Hydrocephalus, Optic atrophy, Renal hypoplasia, Microp...	OMIM:619321
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome	Atrial septal defect, Patent ductus arteriosus, Hepatosplenomegaly	ORPHA:397709
Pontocerebellar Hypoplasia, Type 8	Ventricular septal defect, Patent foramen ovale	OMIM:614961
19P13.12 Microdeletion Syndrome	Atrial septal defect, Hepatic steatosis, Ventricular septal defect	ORPHA:254346
Buratti-Harel Syndrome	Atrial septal defect, Dilation of Virchow-Robin spaces	OMIM:619314
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Hydrocephalus, Retinal dystrophy, Ventriculomegaly	OMIM:616538
Kapur-Toriello Syndrome	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:244300
Axenfeld-Rieger Syndrome, Type 3	Atrial septal defect, Patent ductus arteriosus	OMIM:602482
Hypocalciuric Hypercalcemia, Familial, Type Iii	Renal insufficiency, Parathormone-independent increased renal tubular calcium reabsorption, Multi...	OMIM:600740
Trisomy 10P	Absent gallbladder, Abnormality of the kidney, Micrognathia, Short toe, Abnormal heart morphology...	ORPHA:171929
Osteopetrosis, Autosomal Recessive 1	Hydrocephalus, Facial paralysis, Optic atrophy, Facial palsy	OMIM:259700
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Persistence of hemoglobin F	OMIM:617101
Holt-Oram Syndrome	Hypoplasia of the ulna, Short humerus, Ventricular septal defect, Aplasia of the ulna, Secundum a...	OMIM:142900
Hereditary Late-Onset Parkinson Disease	Hyposmia	ORPHA:411602
Familial Multiple Nevi Flammei	Venous insufficiency, Arteriovenous malformation, Intracranial hemorrhage	ORPHA:624
Intellectual Developmental Disorder, Autosomal Recessive 72	Secundum atrial septal defect	OMIM:618665
Mend Syndrome	Hyperactivity, Cryptorchidism, Hydrocephalus, Macular hypoplasia, Crossed fused renal ectopia, Da...	OMIM:300960
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities	Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Tetralogy of Fallot, Pat...	OMIM:618748
Cardioacrofacial Dysplasia 2	Common atrium, Atrioventricular canal defect, Left superior vena cava draining to coronary sinus	OMIM:619143
Temple Syndrome	Cryptorchidism, Hydrocephalus, Decreased testicular size	OMIM:616222
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Hypoplasia of penis, Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	ORPHA:1812
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Pigmentary retinopathy, Optic atrophy	ORPHA:436271
20Q13.33 Microdeletion Syndrome	Atrial septal defect, Abnormal cardiac ventricle morphology, Hypoplastic aortic arch, Dilation of...	ORPHA:261311
Oculocerebrorenal Syndrome Of Lowe	Glomerulopathy, Renal insufficiency, Proteinuria, Chorioretinal dysplasia, Cryptorchidism, Proxim...	ORPHA:534
Mandibulofacial Dysostosis-Microcephaly Syndrome	Atrial septal defect	ORPHA:79113
Schinzel-Giedion Syndrome	Delayed eruption of teeth, Myeloid leukemia, Hypospadias, Micrognathia, Abnormality of the ureter...	ORPHA:798
Shashi-Pena Syndrome	Atrial septal defect, Patent ductus arteriosus, Dilation of Virchow-Robin spaces	OMIM:617190
Chromosome 18Q Deletion Syndrome	Absence of the pulmonary valve, Ventricular septal defect, Patent ductus arteriosus, Ascending tu...	OMIM:601808
King-Denborough Syndrome	Ventricular septal defect	OMIM:619542
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity	Hydrocephalus	OMIM:615599
Bdv Syndrome	Atrial septal defect	OMIM:619326
Msh3-Related Attenuated Familial Adenomatous Polyposis	Ovarian dermoid cyst, Renal cyst	ORPHA:480536
Williams Syndrome	Hypoplasia of penis, Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, ...	ORPHA:904
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Abnormal cerebral vascular morphology, Patent ductus arteriosus, Arterial stenosis, Anemia, Strok...	ORPHA:2637
Lethal Congenital Contracture Syndrome 10	Hypoplasia of the thymus, Overriding aorta, Ventricular septal defect, Cardiomegaly	OMIM:617022
Usher Syndrome	Abnormality of retinal pigmentation	ORPHA:886
Lymphedema-Distichiasis Syndrome	Ventricular septal defect, Micrognathia, Patent ductus arteriosus, Varicose veins, Tetralogy of F...	OMIM:153400
Mucopolysaccharidosis Type 1	Retinopathy, Hydrocephalus, Mucopolysacchariduria, Optic atrophy	ORPHA:579
Spondylocarpotarsal Synostosis Syndrome	Abnormality of retinal pigmentation, Renal cyst	OMIM:272460
Milroy Disease	Varicose veins, Abnormal venous morphology	ORPHA:79452
Melanosis, Neurocutaneous	Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation	OMIM:249400
Sotos Syndrome	Ventricular septal defect, Muscular ventricular septal defect, Patent ductus arteriosus, Prolonge...	OMIM:117550
Char Syndrome	Patent ductus arteriosus, Ventricular septal defect	ORPHA:46627
Branchio-Oculo-Facial Syndrome	Multicystic kidney dysplasia, Renal agenesis, Hydronephrosis	ORPHA:1297
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Optic disc pallor, Pigmentary retinopathy	ORPHA:502423
L1 Syndrome	Aqueductal stenosis, Hydrocephalus, Aganglionic megacolon	ORPHA:275543
Werner Syndrome	Premature graying of hair, Abnormality of retinal pigmentation, White forelock	ORPHA:902
Foix-Alajouanine Syndrome	Neurogenic bladder, Urinary incontinence, Functional abnormality of the bladder, Urinary retentio...	ORPHA:79093
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Absent gallbladder, Aplasia/Hypoplasia of the thumb, Overriding aorta, Hypoplasia of the ulna, Re...	ORPHA:3186
Congenital Heart Defects And Skeletal Malformations Syndrome	Atrial septal defect, Aortic root aneurysm, Ventricular septal defect, Coarctation of aorta	OMIM:617602
Codas Syndrome	Extrahepatic biliary duct atresia, Ventricular septal defect	ORPHA:1458
Peho Syndrome	Hydrocephalus, Optic atrophy, Ventriculomegaly	ORPHA:2836
Chromosome 9P Deletion Syndrome	Atrial septal defect, Patent ductus arteriosus, Perimembranous ventricular septal defect, Ventric...	OMIM:158170
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Communicating hydrocephalus, Unilateral renal agenesis	ORPHA:1064
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Atrial septal defect, Ascending tubular aorta aneurysm, Ventricular septal defect	OMIM:309520
Cohen Syndrome	Abnormality of skin pigmentation, Abnormality of retinal pigmentation, Chorioretinal dystrophy, O...	ORPHA:193
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1	Atrial septal defect, Dilation of Virchow-Robin spaces, Bicuspid aortic valve	OMIM:619720
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome	Cranial asymmetry, Pulmonic stenosis	ORPHA:137634
Maternal Uniparental Disomy Of Chromosome 4	Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy	ORPHA:96180
Jacobsen Syndrome	Hypospadias, Cryptorchidism, Hydrocephalus, Optic atrophy, Macular hypoplasia, Holoprosencephaly,...	OMIM:147791
Monosomy 9Q22.3	Hyperactivity, Hydrocephalus, Nephroblastoma, Retinopathy, Ventriculomegaly	ORPHA:77301
Al Kaissi Syndrome	Atrial septal defect	OMIM:617694
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Hypoplasia of the bladder, Renal agenesis, Ventricular septal defect, Hypospadias, Pulmonary arte...	OMIM:611812
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type	Atrial septal defect, Mitral valve prolapse	OMIM:300986
Metatropic Dysplasia	Hydrocephalus	ORPHA:2635
Mandibulofacial Dysostosis, Guion-Almeida Type	Atrial septal defect, Ventricular septal defect	OMIM:610536
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Ventricu...	OMIM:243150
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Atrial septal defect, Ventricular septal defect	OMIM:610978
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Retinal detachment, Abnormality of retinal pigmentation, Retinal dystrophy, Chorioretinal dysplas...	ORPHA:2526
Coffin-Lowry Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:192
Pseudoaminopterin Syndrome	Micrognathia, Asplenia, Short thumb, Horseshoe kidney, Short 4th metacarpal, Patent foramen ovale	ORPHA:221120
Myopathy, Mitochondrial, And Ataxia	Pigmentary retinopathy	OMIM:617675
Cholera	Decreased urine output, Abnormality of renal excretion, Acute kidney injury	ORPHA:173
Chops Syndrome	Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, Anomalous pulmonary venous ret...	OMIM:616368
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Patent ductus arteriosus, Hypertrophic cardiomyopathy, Ventricular septal defect	OMIM:612938
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Hydrocephalus, Agenesis of corpus callosum	OMIM:617542
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Pigmentary retinopathy, Optic atrophy	OMIM:220110
Primary Pulmonary Hypoplasia	Secundum atrial septal defect, Abnormal pulmonary artery morphology, Dextrocardia	ORPHA:2257
Cardiofaciocutaneous Syndrome 1	Tongue thrusting, Hydrocephalus, Optic nerve dysplasia, Hydronephrosis	OMIM:115150
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Hydrocephalus, Hydranencephaly, Dandy-Walker malformation, Agenesis of corpus callosum, Ventricul...	OMIM:225790
Loeys-Dietz Syndrome 1	Bicuspid aortic valve, Arterial tortuosity, Descending thoracic aorta aneurysm, Patent ductus art...	OMIM:609192
Autoimmune Polyendocrinopathy Type 4	Macrocytic anemia, Autoimmune thrombocytopenia, Hepatitis, Biliary cirrhosis, Thymoma, Tubulointe...	ORPHA:227990
Pyruvate Dehydrogenase E1-Alpha Deficiency	Ventricular septal defect	ORPHA:79243
Alkuraya-Kucinskas Syndrome	Micropenis, Hydrocephalus, Dandy-Walker malformation, Ventriculomegaly	OMIM:617822
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Male infertility	ORPHA:2239
Fanconi Anemia, Complementation Group F	Patent ductus arteriosus, Anemia, Leukopenia, Bone marrow hypocellularity, Atrial septal defect, ...	OMIM:603467
Spondylo-Ocular Syndrome	Ventricular septal defect	ORPHA:85194
Monosomy 18Q	Bilateral cryptorchidism, Hydrocephalus, Micropenis, Abnormal retinal morphology	ORPHA:1600
Coccidioidomycosis	Renal insufficiency, Abnormal retinal morphology, Abnormality of the kidney, CSF pleocytosis, Hyd...	ORPHA:228123
Aicardi Syndrome	Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma, Optic atrophy, Abno...	ORPHA:50
Congenital Disorder Of Glycosylation, Type It	Hepatomegaly, Ventricular septal defect, Cardiomegaly, Intrahepatic cholestasis, Dilated cardiomy...	OMIM:614921
Xeroderma Pigmentosum, Complementation Group E	Defective DNA repair after ultraviolet radiation damage	OMIM:278740
Mosaic Variegated Aneuploidy Syndrome 2	Atrial septal defect, Ventricular septal defect, Coarctation of aorta, Subvalvular aortic stenosis	OMIM:614114
Mogs-Cdg	Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Atrial septal defect, Left ventricular hypertroph...	ORPHA:79330
Cooper-Jabs Syndrome	Ventricular septal defect	ORPHA:1488
Thanatophoric Dysplasia Type 1	Atrial septal defect, Patent ductus arteriosus	ORPHA:1860
Axenfeld-Rieger Syndrome, Type 2	Cryptorchidism, Hydrocephalus, Hypospadias	OMIM:601499
Cardiac-Valvular Ehlers-Danlos Syndrome	Abnormal heart valve morphology, Mitral valve prolapse, Aortic root aneurysm, Atrial septal defec...	ORPHA:230851
Clapo Syndrome	Lymphangioma, Varicose veins, Venous malformation	ORPHA:168984
Classic Homocystinuria	Retinal detachment, Optic atrophy, Abnormality of retinal pigmentation	ORPHA:394
Autoimmune Polyendocrinopathy Type 3	Macrocytic anemia, Autoimmune thrombocytopenia, Hepatitis, Biliary cirrhosis, Thymoma, Tubulointe...	ORPHA:227982
Beckwith-Wiedemann Syndrome	Mandibular prognathia, Ureteral duplication, Hepatomegaly, Nephroblastoma, Hepatoblastoma, Cardio...	ORPHA:116
Tenorio Syndrome	Enuresis, Hydrocephalus, Ventriculomegaly	OMIM:616260
Cardiofaciocutaneous Syndrome	Cryptorchidism, Hydrocephalus, Optic atrophy, Hydronephrosis	ORPHA:1340
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Atrial septal defect, Patent ductus arteriosus, Neutropenia	OMIM:618005
Aica-Ribosuria Due To Atic Deficiency	Secundum atrial septal defect	OMIM:608688
Shwachman-Diamond Syndrome 1	Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Anemia, Neutropenia, Thrombocy...	OMIM:260400
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Colpocephaly	OMIM:620156
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Cryptorchidism, Hydrocephalus, Optic atrophy	ORPHA:1555
Beck-Fahrner Syndrome	Ventricular septal defect, Cardiomegaly	OMIM:618798
Crouzon Syndrome	Hydrocephalus, Optic atrophy	OMIM:123500
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Hyposmia, Cryptorchidism	OMIM:618653
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Ventricular septal defect	OMIM:616901
Retinoblastoma	Abnormality of retinal pigmentation, Subretinal pigment epithelium hemorrhage, Retinal calcificat...	ORPHA:790
Noonan Syndrome 13	Atrial septal defect, Mitral valve prolapse	OMIM:619087
Lowry-Maclean Syndrome	Bilateral cryptorchidism, Hydrocephalus, Hypospadias	ORPHA:2409
Microphthalmia With Linear Skin Defects Syndrome	Abnormal penis morphology, Abnormality of retinal pigmentation, Hypospadias, Chorioretinal dyspla...	ORPHA:2556
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Pulmonary artery atresia, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale	OMIM:620113
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome	Patent ductus arteriosus, Ventricular septal defect	ORPHA:52055
Intellectual Developmental Disorder, X-Linked, Syndromic, 35	Atrial septal defect, Pulmonary artery stenosis, Dilation of Virchow-Robin spaces, Ventricular se...	OMIM:300998
Fetal Alcohol Syndrome	Atrial septal defect	ORPHA:1915
Hurler Syndrome	Abnormal nerve conduction velocity, Hydrocephalus, Mucopolysacchariduria, Retinopathy	ORPHA:93473
Acquired Aneurysmal Subarachnoid Hemorrhage	Hydrocephalus, Hyperglycorrhachia, Addictive alcohol use, Increased CSF lactate	ORPHA:90065
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Atrial septal defect, Ventricular septal defect	OMIM:617360
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility	Male infertility	OMIM:619607
Gm1 Gangliosidosis	Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, Hepatosplenomegaly, Abnormal h...	ORPHA:354
Koolen-De Vries Syndrome Due To A Point Mutation	Overfriendliness, Recurrent urinary tract infections, Hypospadias, Testicular neoplasm, Spina bif...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Overfriendliness, Recurrent urinary tract infections, Hypospadias, Testicular neoplasm, Spina bif...	ORPHA:363958
Edinburgh Malformation Syndrome	Hydrocephalus	ORPHA:1895
Lymphatic Malformation 6	Atrial septal defect, Splenomegaly, Intestinal lymphangiectasia, Varicose veins	OMIM:616843
Hypomandibular Faciocranial Dysostosis	Atrial septal defect, Patent ductus arteriosus	ORPHA:1790
Basel-Vanagaite-Smirin-Yosef Syndrome	Atrial septal defect, Ventricular septal defect	OMIM:616449
Townes-Brocks Syndrome	Hypoplasia of penis, Renal insufficiency, Hypospadias, Abnormal pulmonary valve morphology, Abnor...	ORPHA:857
Alstrom Syndrome	Cone/cone-rod dystrophy, Pigmentary retinopathy	OMIM:203800
Rere-Related Neurodevelopmental Syndrome	Ventricular septal defect, Abnormal heart morphology	ORPHA:494344
Apert Syndrome	Agenesis of corpus callosum, Hydrocephalus, Optic atrophy, Ventriculomegaly	ORPHA:87
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Hydrocephalus	ORPHA:2181
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Optic nerve hypoplasia, Partial agenesis of the corpus callosum, Lateral ventricle dilatation, No...	ORPHA:300570
Peters Plus Syndrome	Ureteral duplication, Multicystic kidney dysplasia, Hypospadias, Rhizomelia, Micromelia, Renal hy...	ORPHA:709
Gaucher Disease, Type I	Macular atrophy, Hyperpigmentation of the skin	OMIM:230800
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Atrial septal defect, Peripheral pulmonary artery stenosis	OMIM:614749
Dural Sinus Malformation	Myelopathy, Papilledema, Hydrocephalus	ORPHA:97339
Xeroderma Pigmentosum, Complementation Group C	Defective DNA repair after ultraviolet radiation damage	OMIM:278720
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Hypertrophic cardiomyopathy, Ventricular septal defect, Cardiomegaly	OMIM:616897
Intellectual Disability-Strabismus Syndrome	Atrial septal defect, Patent ductus arteriosus	ORPHA:363528
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Hemolytic-uremic syndrome, Anuria, Acute kidney injury	OMIM:235400
Lissencephaly 9 With Complex Brainstem Malformation	Ventricular septal defect	OMIM:618325
Thymoma	Leukemia, Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis	ORPHA:99867
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome	Atrial septal defect, Abnormal mitral valve morphology	ORPHA:1292
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Persistence of hemoglobi...	OMIM:617052
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Patent foramen ovale, Pulmonic stenosis	OMIM:618914
Desmosterolosis	Renal agenesis, Renal hypoplasia/aplasia, Hydrocephalus, Agenesis of corpus callosum, Ventriculom...	ORPHA:35107
Adams-Oliver Syndrome 1	Bicuspid aortic valve, Ventricular septal defect, Pulmonary artery stenosis, Hypoplastic left hea...	OMIM:100300
Craniofacial Microsomia 1	Multicystic kidney dysplasia, Ventricular septal defect, Renal agenesis, Ectopic kidney, Hypoplas...	OMIM:164210
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Hydrocephalus, Ureteral triplication, Hydronephrosis	OMIM:104350
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Hydrocephalus	OMIM:613330
Fanconi Anemia	Recurrent urinary tract infections, Hydroureter, Hypospadias, Renal insufficiency, Aganglionic me...	ORPHA:84
Kury-Isidor Syndrome	Ventricular septal defect	OMIM:619762
Loeys-Dietz Syndrome 2	Aortic arch aneurysm, Bicuspid aortic valve, Arterial tortuosity, Descending thoracic aorta aneur...	OMIM:610168
Velocardiofacial Syndrome	Ventricular septal defect, Interrupted aortic arch, Pulmonary artery atresia, Tetralogy of Fallot...	OMIM:192430
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Atrial septal defect, Patent foramen ovale	OMIM:619184
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Ventricular septal defect, Patent ductus arteriosus, Hypoplastic aortic arch, Coarctation of aort...	OMIM:617506
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Hydrocephalus, Abnormal renal morphology, Aganglionic megacolon	OMIM:239300
Tetraamelia Syndrome 1	Renal agenesis, Micrognathia, Asplenia, Urethral atresia, Tetraamelia	OMIM:273395
Distal Xq28 Microduplication Syndrome	Patent ductus arteriosus, Patent foramen ovale	ORPHA:293939
Mitochondrial Trifunctional Protein Deficiency	Pigmentary retinopathy	ORPHA:746
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	Mitral valve prolapse, Aortic dissection, Arterial dissection, Abnormal venous morphology, Vascul...	ORPHA:1900
Xeroderma Pigmentosum, Complementation Group A	Defective DNA repair after ultraviolet radiation damage	OMIM:278700
Tarp Syndrome	Atrial septal defect, Tetralogy of Fallot, Subdural hemorrhage	OMIM:311900
Houge-Janssens Syndrome 1	Hydrocephalus, Ventriculomegaly	OMIM:616355
Severe X-Linked Intellectual Disability, Gustavson Type	Ventricular septal defect	ORPHA:3078
Heart And Brain Malformation Syndrome	Ventricular septal defect, Interrupted aortic arch	OMIM:616920
Contractures-Developmental Delay-Pierre Robin Syndrome	Atrial septal defect, Peripheral pulmonary artery stenosis	ORPHA:436003
19P13.3 Microduplication Syndrome	Ventricular septal defect	ORPHA:447980
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Retinopathy, Hydrocephalus, Optic atrophy	ORPHA:220295
Full Nf2-Related Schwannomatosis	Remnants of the hyaloid vascular system, Facial palsy, Bilateral vestibular schwannoma, Retinal h...	ORPHA:637
B4Galt1-Cdg	Hydrocephalus, Dandy-Walker malformation	ORPHA:79332
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Ventricular septal defect	OMIM:617895
Cockayne Syndrome Type 1	Absent brainstem auditory responses, Hypermelanotic macule, Optic atrophy, Pigmentary retinopathy...	ORPHA:90321
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies	Secundum atrial septal defect	OMIM:620194
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Hydrocephalus, Optic atrophy	OMIM:618590
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Atrial septal defect, Coronary artery fistula, Patent ductus arteriosus, Ventricular septal defect	OMIM:620024
17Q23.1Q23.2 Microdeletion Syndrome	Atrial septal defect, Patent ductus arteriosus	ORPHA:261279
H Syndrome	Abnormality of the kidney, Hydrocephalus, Azoospermia, Micropenis, Decreased testicular size, Enl...	ORPHA:168569
Microcephaly 30, Primary, Autosomal Recessive	Secundum atrial septal defect	OMIM:620183
Kabuki Syndrome 2	Atrial septal defect, Atrioventricular canal defect, Pulmonic stenosis, Coarctation of aorta	OMIM:300867
Functioning Gonadotropic Adenoma	Macroorchidism, postpubertal, Enlarged polycystic ovaries, Hydrocephalus, Oligozoospermia, Ovaria...	ORPHA:91348
Oculocerebrocutaneous Syndrome	Cryptorchidism, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	ORPHA:1647
X-Linked Intellectual Disability, Golabi-Ito-Hall Type	Atrial septal defect	ORPHA:93947
Koolen-De Vries Syndrome	Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Aortic root aneurysm,...	OMIM:610443
Carnitine-Acylcarnitine Translocase Deficiency	Dicarboxylic aciduria, Oliguria	ORPHA:159
Osteopetrosis, Autosomal Recessive 7	Hydrocephalus, Optic nerve compression, Optic atrophy, Lateral ventricle dilatation	OMIM:612301
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Pigmentary retinopathy	ORPHA:71212
Kabuki Syndrome	Duplicated collecting system, Hypoplasia of penis, Crossed fused renal ectopia, Hypospadias, Rena...	ORPHA:2322
Livedoid Vasculopathy	Pancytopenia, Abnormal capillary morphology, Venous insufficiency, Leukocytosis, Varicose veins, ...	ORPHA:542643
Autoimmune Polyendocrine Syndrome, Type Ii	Asplenia, Hepatitis, Thymoma, Chronic hepatitis, Iron deficiency anemia, Cirrhosis, Exocrine panc...	OMIM:269200
Lujo Hemorrhagic Fever	Renal insufficiency, Microscopic hematuria, Oliguria, Dysphagia	ORPHA:319213
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities	Secundum atrial septal defect	OMIM:620242
Spondylocostal Dysostosis 4, Autosomal Recessive	Neurogenic bladder, Spina bifida occulta, Myelomeningocele, Hydrocephalus	OMIM:613686
Dysosteosclerosis	Ventricular septal defect	ORPHA:1782
Xeroderma Pigmentosum, Complementation Group D	Defective DNA repair after ultraviolet radiation damage	OMIM:278730
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Atrial septal defect	ORPHA:2728
Digeorge Syndrome	Renal dysplasia, Hepatic steatosis, Renal insufficiency, Ventricular septal defect, Unilateral re...	OMIM:188400
Wiedemann-Steiner Syndrome	Atrial septal defect, Patent ductus arteriosus	OMIM:605130
Zaki Syndrome	Patent ductus arteriosus, Patent foramen ovale	OMIM:619648
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Ventricular septal defect	ORPHA:1770
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Ventricular septal defect, Abnormal heart morphology	ORPHA:404440
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Pulmonic stenosis, At...	OMIM:610759
Complete Androgen Insensitivity Syndrome	Male infertility, Testicular neoplasm, Bilateral cryptorchidism, Primary amenorrhea, Delayed puberty	ORPHA:99429
Distal 22Q11.2 Microduplication Syndrome	Unilateral renal agenesis, Cryptorchidism, Hydrocephalus, Optic disc coloboma, Attention deficit ...	ORPHA:261337
16P13.11 Microdeletion Syndrome	Atrial septal defect, Ventricular septal defect	ORPHA:261236
Fraser Syndrome 3	Hypoplasia of the bladder, Hypoplasia of penis, Hydrocephalus, Ureteral agenesis, Bilateral renal...	OMIM:617667
Wilson Disease	Hyposmia	OMIM:277900
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	HbH hemoglobin	ORPHA:423479
Ogden Syndrome	Pulmonary artery stenosis, Ventricular septal defect	ORPHA:276432
Filippi Syndrome	Ventricular septal defect	ORPHA:3255
Holoprosencephaly-Postaxial Polydactyly Syndrome	Encephalocele, Hypoplasia of penis, Hypospadias, Renal hypoplasia/aplasia, Cryptorchidism, Hydroc...	ORPHA:2166
7Q31 Microdeletion Syndrome	Atrial septal defect, Patent ductus arteriosus after birth at term	ORPHA:251061
Farber Disease	Macular degeneration, Cherry red spot of the macula	ORPHA:333
Meningioma	Abnormality of the sense of smell	ORPHA:2495
Brachytelephalangic Chondrodysplasia Punctata	Atrial septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Ventricular septal defect	ORPHA:79345
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities	Secundum atrial septal defect, Hypertrophic cardiomyopathy	OMIM:619121
Costello Syndrome	Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis, Mitral valve prolapse	ORPHA:3071
Loeys-Dietz Syndrome 5	Ventricular septal defect, Aortic root aneurysm, Ascending aortic dissection, Atrial septal defec...	OMIM:615582
Townes-Brocks Syndrome 1	Multicystic kidney dysplasia, Renal insufficiency, Ventricular septal defect, Hypospadias, Urethr...	OMIM:107480
Bohring-Opitz Syndrome	Atrial septal defect, Ventricular septal defect, Hyperechogenic pancreas	OMIM:605039
Alzahrani-Kuwahara Syndrome	Ventricular septal defect, Pulmonary artery sling, Coronary sinus enlargement, Hypospadias, Micro...	OMIM:619268
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Absent gallbladder, Ventricular septal defect, Patent ductus arteriosus, Anemia, Intracranial hem...	ORPHA:163979
Focal Facial Dermal Dysplasia Type Iv	Hydrocephalus	ORPHA:398189
Oeis Complex	Duplicated collecting system, Hydroureter, Renal agenesis, Cryptorchidism, Epispadias, Vesicovagi...	OMIM:258040
Chromosome 8Q21.11 Deletion Syndrome	Pigmentary retinopathy	OMIM:614230
Distal Duplication 5Q	Aplasia/Hypoplasia of the gallbladder, Ventricular septal defect, Dextrocardia	ORPHA:96097
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphology, Ascending tubular ao...	ORPHA:453499
Chromosome 10Q26 Deletion Syndrome	Atrial septal defect, Patent ductus arteriosus	OMIM:609625
Occipital Horn Syndrome	Abnormality of the sense of smell	ORPHA:198
Capillary Malformation Of The Lower Lip, Lymphatic Malformation Of Face And Neck, Asymmetry Of Face And Limbs, And Partial/Generalized Overgrowth	Varicose veins, Venous malformation	OMIM:613089
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Female infertility...	ORPHA:572333
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Hydrocephalus	ORPHA:2180
Amoebiasis Due To Free-Living Amoebae	Hyposmia	ORPHA:68
Holoprosencephaly 9	Optic nerve hypoplasia, Cryptorchidism, Hydrocephalus, Partial agenesis of the corpus callosum, H...	OMIM:610829
Congenital Disorder Of Glycosylation, Type Iie	Hepatomegaly, Secundum atrial septal defect, Splenomegaly, Jaundice, Perimembranous ventricular s...	OMIM:608779
White-Sutton Syndrome	Atrial septal defect, Patent ductus arteriosus, Patent foramen ovale	OMIM:616364
Gaucher Disease	Ventriculomegaly, Proteinuria, Hydrocephalus, Hematuria, Dysphagia, Cherry red spot of the macula...	ORPHA:355
Atypical Werner Syndrome	Abnormality of retinal pigmentation, Failure to thrive, Premature ovarian insufficiency, Short st...	ORPHA:79474
Spondyloepimetaphyseal Dysplasia, Krakow Type	Atrial septal defect, Annular pancreas, Patent ductus arteriosus	OMIM:618162
Lethal Kniest-Like Dysplasia	Atrial septal defect	ORPHA:2347
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Hydrocephalus, Urinary incontinence	OMIM:616482
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Autoimmune hemolytic anemia, Medial calcification of large arteries, Autoimmune thrombocytopenia,...	ORPHA:391487
Immunodeficiency 87 And Autoimmunity	Decreased proportion of CD4-positive T cells, Hemolytic anemia, Hepatomegaly, Lymphopenia, Autoim...	OMIM:619573
Osteopetrosis, Autosomal Recessive 5	Optic disc pallor, Facial palsy, Hydrocephalus, Optic atrophy, Ventriculomegaly	OMIM:259720
Coffin-Siris Syndrome 4	Ventricular septal defect, Mitral atresia, Patent ductus arteriosus, Pulmonic stenosis, Atrial se...	OMIM:614609
Ramon Syndrome	Optic disc pallor, Pigmentary retinopathy	OMIM:266270
Alexander Disease	Facial palsy, Aqueductal stenosis, Hydrocephalus, Self-injurious behavior, Abnormal autonomic ner...	ORPHA:58
Opitz Gbbb Syndrome	Ventricular septal defect, Patent ductus arteriosus, Abnormal heart morphology, Persistent left s...	ORPHA:2745
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Restrictive behavior, Hyperactivity, Violent behavior, Hypospadias, Impulsivity, Aggressive behav...	OMIM:619475
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Bicuspid aortic valve, Cardiomegaly, Mitral valve prolapse, Aortic root aneurysm, Atrial septal d...	OMIM:245600
Menkes Disease	Micrognathia, Venous insufficiency, Arterial stenosis, Intracranial hemorrhage, Bladder diverticu...	ORPHA:565
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Atrial septal defect, Thrombocytopenia	ORPHA:457351
Hyperparathyroidism, Transient Neonatal	Communicating hydrocephalus, Ventriculomegaly, Unilateral renal agenesis, Ovarian cyst, Enlarged ...	OMIM:618188
Osteootohepatoenteric Syndrome	Hydrocephalus, Proteinuria, Grade II vesicoureteral reflux	OMIM:619377
Otopalatodigital Syndrome Type 2	Encephalocele, Hypospadias, Ureteral obstruction, Myelomeningocele, Hydrocephalus, Hydronephrosis	ORPHA:90652
Xq21 Microdeletion Syndrome	Abnormal chorioretinal morphology, Chorioretinal degeneration, Reticular pigmentary degeneration,...	ORPHA:1435
Basel-Vanagaite-Smirin-Yosef Syndrome	Atrial septal defect, Cholelithiasis, Ventricular septal defect, Left superior vena cava draining...	ORPHA:464738
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Ventricular septal defect	OMIM:620073
Lateral Meningocele Syndrome	Cryptorchidism, Neurogenic bladder, Meningocele, Hydrocephalus	OMIM:130720
Chédiak-Higashi Syndrome	Abnormality of retinal pigmentation, Hypopigmentation of hair, Decreased nerve conduction velocit...	ORPHA:167
Cutis Laxa, Autosomal Recessive, Type Iib	Hydrocephalus, Agenesis of corpus callosum	OMIM:612940
Trisomy 8P	Cryptorchidism, Fetal pyelectasis, Hydrocephalus, Nephrocalcinosis, Micropenis, Agenesis of corpu...	ORPHA:264450
Craniopharyngioma	Papilledema, Hydrocephalus, Optic atrophy, Polyphagia	ORPHA:54595
Lymphatic Malformation 13	Atrial septal defect, Patent ductus arteriosus, Patent foramen ovale	OMIM:620244
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Abnormality of peripheral somatosensory evoked potentials, Abnormality of retinal pigmentation, D...	ORPHA:466768
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Anuria, Megacystis, Pyelonephritis, Fetal megacystis, Renal cortical hyperechogenicity	OMIM:619351
Lead Poisoning	Imbalanced hemoglobin synthesis, Anemia, Abnormal T cell morphology	ORPHA:330015
Apert Syndrome	Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum, Hydronephrosis, Ventriculomegaly	OMIM:101200
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Patent ductus arteriosus, Ventricular septal defect	OMIM:106260
Sepsis In Premature Infants	Oliguria, Reversible renal failure	ORPHA:90051
Ellis-Van Creveld Syndrome	Atrial septal defect, Common atrium	OMIM:225500
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Ventricular septal defect, Dysplastic pulmonary valve	OMIM:619103
Distal Deletion 10Q	Atrial septal defect, Patent ductus arteriosus	ORPHA:96148
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Patent ductus arteriosus, Ventricular septal defect	OMIM:300472
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Hypoplasia of penis, Urethrovaginal fistula, Micromelia, Micrognathia, Congenital hepatic fibrosi...	ORPHA:93271
Icf Syndrome	Communicating hydrocephalus, Abnormality of chromosome stability	ORPHA:2268
Sacral Defect With Anterior Meningocele	Myeloschisis, Neurogenic bladder, Myelomeningocele, Hydrocephalus, Meningocele, Dermal sinus trac...	OMIM:600145
Monosomy 13Q34	Common atrium, Hepatic steatosis, Pulmonic stenosis	ORPHA:96168
Opitz-Kaveggia Syndrome	Hypospadias, Cryptorchidism, Hydrocephalus, Partial agenesis of the corpus callosum, Attention de...	OMIM:305450
Griscelli Syndrome	Encephalocele, Hydrocephalus	ORPHA:381
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Male infertility, Bilateral cryptorchidism, Irregular menstruation, Decreased fertility, Primary ...	ORPHA:90793
Lipoid Proteinosis	Nasal polyposis	ORPHA:530
Familial Idiopathic Dilatation Of The Right Atrium	Hepatomegaly, Abnormal jugular vein morphology, Cardiomegaly, Right ventricular hypertrophy, Abno...	ORPHA:1677
Hydrocephalus, Congenital, 4	Communicating hydrocephalus, Ventriculomegaly	OMIM:618667
Radio-Tartaglia Syndrome	Ventricular septal defect	OMIM:619312
Microphthalmia With Limb Anomalies	Cryptorchidism, Hydrocephalus, Optic atrophy, Horseshoe kidney	ORPHA:1106
Mucopolysaccharidosis, Type Vii	Heparan sulfate excretion in urine, Hydrocephalus, Urinary glycosaminoglycan excretion, Dermatan ...	OMIM:253220
Proteus Syndrome	Thymus hyperplasia, Abnormal dental enamel morphology, Enlarged polycystic ovaries, Splenomegaly,...	ORPHA:744
Cryptococcosis	Abnormal retinal morphology, Hydrocephalus, Vitritis, Abnormal optic nerve morphology, Abnormal c...	ORPHA:1546
Short Stature-Micrognathia Syndrome	Ventricular septal defect	OMIM:617164
Isolated Posterior Meningocele	Hydrocephalus, Lipomyelomeningocele, Meningocele, Enuresis, Neural tube defect, Occipital meningo...	ORPHA:268810
Distal Deletion 19P	Pulmonary valve atresia, Ventricular septal defect, Tricuspid valve prolapse	ORPHA:96129
Hydrocephalus, Congenital, 5, Susceptibility To	Aqueductal stenosis, Noncommunicating hydrocephalus	OMIM:620241
Vici Syndrome	Lymphopenia, Dilated cardiomyopathy, Decreased proportion of CD4-positive helper T cells, Cardiom...	OMIM:242840
Distal 22Q11.2 Microdeletion Syndrome	Atrial septal defect, Truncus arteriosus, Ventricular septal defect, Aortic aneurysm	ORPHA:261330
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3	Atrial septal defect	OMIM:614207
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Pancreatic fibrosis, Ventricular septal defect	OMIM:615503
Alg9-Cdg	Hepatomegaly, Ventricular septal defect, Pericardial effusion, Abnormal heart morphology, Right v...	ORPHA:79328
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations	Bicuspid aortic valve, Valvular pulmonary stenosis, Atrial septal defect, Patent foramen ovale, P...	OMIM:300707
Coffin-Siris Syndrome	Ventricular septal defect, Hepatoblastoma, Patent ductus arteriosus, Abnormal heart morphology, A...	ORPHA:1465
Neurocardiofaciodigital Syndrome	Atrial septal defect, Double inlet left ventricle, Tetralogy of Fallot, Patent ductus arteriosus	OMIM:619869
Cockayne Syndrome B	Renal insufficiency, Proteinuria, Abnormal auditory evoked potentials, Decreased nerve conduction...	OMIM:133540
Dubowitz Syndrome	Hypospadias, Cryptorchidism, Hydrocephalus, Attention deficit hyperactivity disorder, Spina bifid...	ORPHA:235
Chromosome 1P36 Deletion Syndrome, Distal	Optic disc pallor, Hypospadias, Ectopic kidney, Aggressive behavior, Cryptorchidism, Hydrocephalu...	OMIM:607872
Abetalipoproteinemia	Abnormality of retinal pigmentation, Rod-cone dystrophy, Hypopigmentation of the fundus	ORPHA:14
Trichothiodystrophy 4, Nonphotosensitive	Ventricular septal defect	OMIM:234050
Microcephaly 26, Primary, Autosomal Dominant	Patent foramen ovale	OMIM:619179
16Q24.3 Microdeletion Syndrome	Dilated cardiomyopathy, Ventricular septal defect, Thrombocytopenia, Increased mean corpuscular v...	ORPHA:261250
Amelocerebrohypohidrotic Syndrome	Hydrocephalus	ORPHA:1946
21Q22.11Q22.12 Microdeletion Syndrome	Atrial septal defect, Thrombocytopenia, Anemia	ORPHA:261323
Cousin Syndrome	Hydranencephaly, Hydrocephalus, Hydronephrosis	OMIM:260660
Split Cord Malformation	Neurogenic bladder, Hypospadias, Urinary incontinence, Detrusor sphincter dyssynergia, Cervical s...	ORPHA:573278
Kaufman Oculocerebrofacial Syndrome	Atrial septal defect, Ventricular septal defect, Coarctation of aorta	OMIM:244450
Joubert Syndrome	Encephalocele, Hydrocephalus, Aganglionic megacolon	ORPHA:475
Infection-Related Hemolytic Uremic Syndrome	Anuria, Oliguria, Acute kidney injury, Nephrotic range proteinuria, Decreased urine output	ORPHA:544482
19Q13.11 Microdeletion Syndrome	Ventricular septal defect	ORPHA:217346
Duane-Radial Ray Syndrome	Atrial septal defect, Ventricular septal defect, Vascular dilatation	OMIM:607323
Oculoectodermal Syndrome	Transient ischemic attack, Patent ductus arteriosus, Coarctation of aorta, Atrial septal defect, ...	OMIM:600268
Loeys-Dietz Syndrome 3	Tortuous cerebral arteries, Bicuspid aortic valve, Atrial septal defect, Abdominal aortic aneurys...	OMIM:613795
Trisomy 18	Abnormality of retinal pigmentation	ORPHA:3380
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Mandibular prognathia, Bicuspid aortic valve, Urinary incontinence, Asplenia, Vesicoureteral refl...	ORPHA:261552
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Abnormal hemoglobin, Anemia	ORPHA:847
Hereditary Amyloidosis With Primary Renal Involvement	Male infertility, Primary testicular failure, Oligozoospermia, Weight loss, Hypogonadism, Abnorma...	ORPHA:85450
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Atrial septal defect	OMIM:207410
Neurofibromatosis Type 1	Abnormality of retinal pigmentation, Abnormality of the upper urinary tract, Cryptorchidism, Hydr...	ORPHA:636
Bloom Syndrome	Male infertility, Premature ovarian insufficiency, Small for gestational age, Oligozoospermia, Gr...	ORPHA:125
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Hydrocephalus	OMIM:300863
Chilton-Okur-Chung Neurodevelopmental Syndrome	Communicating hydrocephalus, Recurrent urinary tract infections, Crossed fused renal ectopia, Hyp...	OMIM:619841
Mowat-Wilson Syndrome	Mandibular prognathia, Bicuspid aortic valve, Urinary incontinence, Asplenia, Vesicoureteral refl...	ORPHA:2152
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Mandibular prognathia, Bicuspid aortic valve, Urinary incontinence, Asplenia, Vesicoureteral refl...	ORPHA:261537
Eisenmenger Syndrome	Hepatomegaly, Ventricular septal defect, Patent ductus arteriosus, Hypochromic microcytic anemia,...	ORPHA:97214
Muenke Syndrome	Hydrocephalus	ORPHA:53271
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Patent du...	OMIM:300967
Genitopatellar Syndrome	Delayed eruption of teeth, Multicystic kidney dysplasia, Ventricular septal defect, Micrognathia,...	OMIM:606170
Van Esch-O'Driscoll Syndrome	Atrial septal defect, Pulmonary artery stenosis, Pulmonary valve atresia, Ventricular septal defect	OMIM:301030
Hypothyroidism, Congenital, Nongoitrous, 5	Patent foramen ovale	OMIM:225250
Colchicine Poisoning	Renal insufficiency, Oliguria	ORPHA:31824
Tarp Syndrome	Atrial septal defect, Tetralogy of Fallot, Persistent left superior vena cava, Extramedullary hem...	ORPHA:2886
Bardet-Biedl Syndrome 20	Atrial septal defect, Pancreatitis	OMIM:619471
Hypoplasminogenemia	Hydrocephalus, Nephrolithiasis, Dandy-Walker malformation	ORPHA:722
Iniencephaly	Encephalocele, Renal agenesis, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Spinal...	ORPHA:63259
Say-Barber-Miller Syndrome	Short stature, Cryptorchidism, Optic atrophy, Macular degeneration, Hypogonadism, Rod-cone dystrophy	ORPHA:3132
Liver Disease, Severe Congenital	Cardiomegaly, Biliary hyperplasia, Leukopenia, Lymphocytosis, Elevated hepatic iron concentration...	OMIM:619991
Mitochondrial Dna-Associated Leigh Syndrome	Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy	ORPHA:255210
Codas Syndrome	Atrial septal defect, Atrioventricular canal defect, Ventricular septal defect	OMIM:600373
Cerebrooculonasal Syndrome	Encephalocele, Ventriculomegaly, Optic nerve hypoplasia, Hydrocephalus, Dandy-Walker malformation	OMIM:605627
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Atrial septal defect, Patent ductus arteriosus	OMIM:300968
Turner Syndrome Due To Structural X Chromosome Anomalies	Premature ovarian insufficiency, Short stature, Failure to thrive in infancy, Female infertility,...	ORPHA:99413
Mosaic Monosomy X	Premature ovarian insufficiency, Short stature, Failure to thrive in infancy, Female infertility,...	ORPHA:99228
Monosomy X	Premature ovarian insufficiency, Short stature, Failure to thrive in infancy, Female infertility,...	ORPHA:99226
Turner Syndrome	Premature ovarian insufficiency, Short stature, Failure to thrive in infancy, Female infertility,...	ORPHA:881
Dyssegmental Dysplasia, Silverman-Handmaker Type	Encephalocele, Cryptorchidism, Hydrocephalus	ORPHA:1865
Raine Syndrome	Hydrocephalus, Hydroureter, Hydronephrosis	OMIM:259775
Orofaciodigital Syndrome V	Tetralogy of Fallot, Ventricular septal defect	OMIM:174300
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:301040
Cartilage-Hair Hypoplasia	Abnormality of retinal pigmentation, Aganglionic megacolon	ORPHA:175
Weill-Marchesani Syndrome 1	Patent ductus arteriosus, Aortic valve stenosis, Ventricular septal defect, Pulmonic stenosis	OMIM:277600
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Renal neoplasm, Hydrocephalus, Peripapillary atrophy	ORPHA:536467
Melas	Pigmentary retinopathy, Optic atrophy, Vitiligo	ORPHA:550
X Small Rings	Ventricular septal defect, Mitral stenosis, Bicuspid aortic valve, Aortic root aneurysm	ORPHA:96201
Diamond-Blackfan Anemia 21	Secundum atrial septal defect, Erythroid hypoplasia, Thrombocytopenia, Anemia	OMIM:620072
Cornelia De Lange Syndrome	Delayed eruption of teeth, Multicystic kidney dysplasia, Hypoplasia of penis, Ventricular septal ...	ORPHA:199
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Hydrocele testis, Hydrocephalus, Aganglionic megacolon, Ventriculomegaly	OMIM:613603
Juvenile Polyposis Of Infancy	Refractory anemia, Patent ductus arteriosus, Abnormal heart morphology, Atrial septal defect, Anemia	ORPHA:79076
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Hypospadias, Unilateral renal agenesis, Enlarged polycystic ovaries, Cryptorchidism, Hydrocephalu...	ORPHA:95699
Lenz-Majewski Hyperostotic Dwarfism	Abnormal penis morphology, Hypospadias, Facial palsy, Cryptorchidism, Epispadias, Hydrocephalus, ...	ORPHA:2658
3Mc Syndrome 1	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:257920
Chromosome 1Q41-Q42 Deletion Syndrome	Ventricular septal defect	OMIM:612530
Thanatophoric Dysplasia, Type I	Hydrocephalus	OMIM:187600
Diaphragmatic Hernia 4, With Cardiovascular Defects	Hepatomegaly, Ventricular septal defect, Aortopulmonary collateral arteries, Aortopulmonary windo...	OMIM:620025
Focal Dermal Hypoplasia	Ureteral duplication, Cryptorchidism, Hydrocephalus, Myelomeningocele, Optic atrophy, Spina bifid...	OMIM:305600
Ramos-Arroyo Syndrome	Atrial septal defect, Patent ductus arteriosus	ORPHA:1051
Combined Immunodeficiency-Enteropathy Spectrum	Autoimmune hemolytic anemia, Ventricular septal defect, Hepatitis, Hypoplasia of the thymus, Abno...	ORPHA:436252
Robinow Syndrome, Autosomal Dominant 3	Ventricular septal defect, Hypoplastic right heart, Patent ductus arteriosus, Pulmonary artery at...	OMIM:616894
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Atrial septal defect, Patent ductus arteriosus	OMIM:614080
Marshall-Smith Syndrome	Optic nerve hypoplasia, Bilateral cryptorchidism, Cryptorchidism, Hydrocephalus, Agenesis of corp...	OMIM:602535
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Hydrocephalus	ORPHA:163966
Proximal Spinal Muscular Atrophy	Atrial septal defect	ORPHA:70
Specc1L-Related Hypertelorism Syndrome	Atrial septal defect, Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect	ORPHA:1519
Mgat2-Cdg	Impaired lymphocyte transformation with phytohemagglutinin, Patent ductus arteriosus, Ventricular...	ORPHA:79329
2Q31.1 Microdeletion Syndrome	Atrial septal defect, Ventricular septal defect	ORPHA:251014
Combined Oxidative Phosphorylation Deficiency 3	Hepatomegaly, Patent ductus arteriosus, Dilated cardiomyopathy, Concentric hypertrophic cardiomyo...	OMIM:610505
Mucolipidosis Type Ii	Abnormal mitral valve morphology, Splenomegaly, Hepatosplenomegaly, Cardiomyopathy, Abnormal aort...	ORPHA:576
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Retinal pigment epithelial mottling	OMIM:607459
Mucopolysaccharidosis Type 2, Severe Form	Papilledema, Abnormality of retinal pigmentation, Abnormal foveal morphology, Optic atrophy, Reti...	ORPHA:217085
Chromosome 14Q11-Q22 Deletion Syndrome	Patent ductus arteriosus, Ventricular septal defect, Patent foramen ovale	OMIM:613457
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis	OMIM:607721
Neonatal Lupus Erythematosus	Hydrocephalus	ORPHA:398124
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Patent ductus arteriosus, Aortic root aneurysm, Atrial septal defect, Patent foramen ovale, Perip...	ORPHA:280633
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Encephalocele, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	OMIM:613150
Trichohepatoneurodevelopmental Syndrome	Hepatomegaly, Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, Recurrent pancre...	OMIM:618268
Cole-Carpenter Syndrome 2	Hydrocephalus	OMIM:616294
Cole-Carpenter Syndrome 1	Communicating hydrocephalus, Hydrocephalus	OMIM:112240
Nijmegen Breakage Syndrome	Retinal pigment epithelial mottling, Cafe-au-lait spot, Progressive vitiligo	OMIM:251260
Mucopolysaccharidosis Type 2, Attenuated Form	Papilledema, Abnormality of retinal pigmentation, Abnormal foveal morphology, Optic atrophy, Reti...	ORPHA:217093
Donnai-Barrow Syndrome	Ventricular septal defect	OMIM:222448
3Q29 Microduplication Syndrome	Ventricular septal defect	ORPHA:251038
De Barsy Syndrome	Ventricular septal defect, Patent ductus arteriosus, Hypoplastic aortic arch, Prominent veins on ...	ORPHA:2962
Tubulointerstitial Nephritis And Uveitis Syndrome	Papilledema, Abnormality of retinal pigmentation, Choroidal neovascularization, Macular edema, Re...	ORPHA:91500
Chromosome 17P13.1 Deletion Syndrome	Hydrocele testis, Hydrocephalus, Spina bifida	OMIM:613776
Beemer-Ertbruggen Syndrome	Communicating hydrocephalus, Cryptorchidism	ORPHA:1237
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Bicuspid aortic valve, Truncus arteriosus, Ventricular septal defect, Coarctation of aorta, Perim...	ORPHA:508498
Congenital Tracheal Stenosis	Ventricular septal defect, Ascending aorta hypoplasia, Patent ductus arteriosus, Hypoplastic left...	ORPHA:141127
Microcephaly, Developmental Delay, And Brittle Hair Syndrome	Atrial septal defect, Aortic root aneurysm	OMIM:618891
Ring Chromosome 12 Syndrome	Secundum atrial septal defect	ORPHA:1439
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Cone/cone-rod dystrophy, Optic disc pallor, Optic atrophy, Pigmentary retinopathy	ORPHA:404454
Acrofacial Dysostosis 1, Nager Type	Aqueductal stenosis, Hydrocephalus, Aganglionic megacolon, Unilateral renal agenesis	OMIM:154400
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hemoglobinuria, Anuria, Acute kidney injury	ORPHA:90038
Partial Androgen Insensitivity Syndrome	Male infertility, Bilateral cryptorchidism, Primary amenorrhea, Azoospermia, Male sexual dysfunction	ORPHA:90797
Distal Deletion 6P	Atrial septal defect	ORPHA:96125
Degcags Syndrome	Hepatomegaly, Pancytopenia, Ventricular septal defect, Congenital hypoplastic anemia, Patent duct...	OMIM:619488
Alpha-Mannosidosis, Infantile Form	Communicating hydrocephalus, Optic disc pallor, Recurrent urinary tract infections, Oligosacchari...	ORPHA:309282
Tetrasomy 5P	Hydrocephalus	ORPHA:3309
Adams-Oliver Syndrome	Encephalocele, Hydrocephalus	ORPHA:974
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Hepatomegaly, Patent foramen ovale, Patent ductus arteriosus, Coarctation of aorta, Interrupted a...	ORPHA:17
Pancreatic And Cerebellar Agenesis	Secundum atrial septal defect, Pancreatic hypoplasia, Anemia, Pancreatic aplasia	OMIM:609069
Achondroplasia	Hydrocephalus	ORPHA:15
Lateral Meningocele Syndrome	Ventricular septal defect	ORPHA:2789
Cerebellofaciodental Syndrome	Ventricular septal defect, Mitral valve prolapse	OMIM:616202
Larsen Syndrome	Atrial septal defect, Ventricular septal defect, Aortic aneurysm	OMIM:150250
Pituitary Deficiency Due To Rathke Cleft Cysts	Hydrocephalus, Optic nerve compression	ORPHA:91350
Mend Syndrome	Hyperactivity, Abnormal auditory evoked potentials, Aggressive behavior, Cryptorchidism, Hydrocep...	ORPHA:401973
Aymé-Gripp Syndrome	Cryptorchidism, Hydrocephalus, Proteinuria, Ventriculomegaly	ORPHA:1272
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts	Communicating hydrocephalus	OMIM:600559
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Encephalocele, Hydrocephalus	OMIM:224400
Bent Bone Dysplasia Syndrome 2	Atrial septal defect, Hepatomegaly	OMIM:620076
Spondyloocular Syndrome	Atrial septal defect, Mitral valve prolapse, Dysplastic aortic valve	OMIM:605822
Cardiogenic Shock	Oliguria	ORPHA:97292
Congenital Myopathy 22A, Classic	Normal pressure hydrocephalus	OMIM:620351
Intellectual Developmental Disorder, Autosomal Dominant 53	Ventricular septal defect	OMIM:617798
Marfanoid-Progeroid-Lipodystrophy Syndrome	Lateral ventricular asymmetry, Hydrocephalus	OMIM:616914
Combined Oxidative Phosphorylation Deficiency 15	Ventricular septal defect, Ventricular septal hypertrophy	OMIM:614947
Glycogen Storage Disease Of Heart, Lethal Congenital	Hydrocephalus, Enlarged kidney	OMIM:261740
Branchiooculofacial Syndrome	Renal agenesis, Hypospadias, Facial palsy, Cryptorchidism, Renal cyst, Retinal coloboma	OMIM:113620
Aneurysm Of Sinus Of Valsalva	Oliguria	ORPHA:1054
Cutis Laxa, Autosomal Dominant 1	Ventricular septal defect, Peripheral pulmonary artery stenosis	OMIM:123700
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Ventricular septal defect, Patent ductus arteriosus, Abnormal left ventricle morphology, Ebstein ...	ORPHA:466791
Autosomal Recessive Hypophosphatemic Rickets	Renal phosphate wasting, Hyperphosphaturia, Abnormality of renal excretion	ORPHA:289176
Cardiospondylocarpofacial Syndrome	Ventricular septal defect, Muscular ventricular septal defect, Dysplastic tricuspid valve, Hypopl...	OMIM:157800
Renpenning Syndrome 1	Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Situs inversus totalis	OMIM:309500
Wolf-Hirschhorn Syndrome	Abnormal heart valve morphology, Abnormality of the gallbladder, Abnormal cardiac septum morpholo...	ORPHA:280
Myhre Syndrome	Ventricular septal defect, Pericardial effusion, Patent ductus arteriosus, Coarctation of aorta, ...	OMIM:139210
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Atrial septal defect, Atrioventricular canal defect, Patent ductus arteriosus, Ventricular septal...	ORPHA:3047
C Syndrome	Multicystic kidney dysplasia, Micromelia, Micrognathia, Renal hypoplasia/aplasia, Horseshoe kidney	ORPHA:1308
Congenital Disorder Of Glycosylation, Type Iia	Ventricular septal defect	OMIM:212066
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Papilledema, Hydrocephalus, Azoospermia, Abnormal temper tantrums, Ventriculomegaly	ORPHA:2072
Magel2-Related Prader-Willi-Like Syndrome	Atrial septal defect	ORPHA:398069
Desmosterolosis	Hydrocephalus, Partial agenesis of the corpus callosum, Ventriculomegaly	OMIM:602398
Paternal Uniparental Disomy Of Chromosome 6	Hepatomegaly, Patent ductus arteriosus, Ventricular septal defect, Cardiomegaly	ORPHA:96191
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphology, Atrial septal defect...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphology, Atrial septal defect...	ORPHA:352665
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Ventricular septal defect	OMIM:178110
Wiedemann-Rautenstrauch Syndrome	Recurrent urinary tract infections, Hypospadias, Optic disc hypoplasia, Cryptorchidism, Hydroceph...	ORPHA:3455
Pfeiffer Syndrome Type 2	Aqueductal stenosis, Hydrocephalus	ORPHA:93259
Holoprosencephaly 7	Alobar holoprosencephaly, Hydrocephalus, Partial agenesis of the corpus callosum, Lobar holoprose...	OMIM:610828
46,Xy Partial Gonadal Dysgenesis	Male infertility, Streak ovary, Hypergonadotropic hypogonadism, Decreased fertility in females, C...	ORPHA:251510
Pallister-Killian Syndrome	11 pairs of ribs, Delayed eruption of teeth, Ventricular septal defect, Hypospadias, Rhizomelia, ...	OMIM:601803
Pfeiffer Syndrome	Hydrocephalus	OMIM:101600
Peters-Plus Syndrome	Ureteral duplication, Hypospadias, Cryptorchidism, Hydrocephalus, Renal hypoplasia, Retinal colob...	OMIM:261540
Arthrogryposis, Distal, Type 4	Cranial asymmetry	OMIM:609128
Spondylodysplastic Ehlers-Danlos Syndrome	Prominent scalp veins, Abnormal heart valve morphology, Ascending tubular aorta aneurysm, Pulmoni...	ORPHA:536471
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Ventricular septal defect	ORPHA:251028
Leigh Syndrome	Hypertrophic cardiomyopathy, Ventricular septal defect, Anemia, Neutropenia	ORPHA:506
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Hepatomegaly, Microvesicular hepatic steatosis, Patent ductus arteriosus, Cirrhosis, Elevated hep...	OMIM:300868
Congenital Disorder Of Glycosylation, Type Iiw	Hepatomegaly, Ventricular septal defect, Microcytic anemia, Thrombocytopenia, Splenomegaly, Incre...	OMIM:619525
Medulloblastoma	Hydrocephalus, Abnormal cranial nerve morphology	ORPHA:616
Cutis Laxa, Autosomal Recessive, Type Iid	Atrial septal defect, Ascending tubular aorta aneurysm, Hypertrophic cardiomyopathy, Hypoplastic ...	OMIM:617403
Noonan Syndrome 1	Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Ventricular septal defect, Pa...	OMIM:163950
Den Hoed-De Boer-Voisin Syndrome	Ventricular septal defect	OMIM:619229
Basal Cell Nevus Syndrome 2	Hydrocephalus	OMIM:620343
Mucopolysaccharidosis, Type Vi	Cervical myelopathy, Hydrocephalus, Dermatan sulfate excretion in urine	OMIM:253200
Chromosome 16P13.3 Duplication Syndrome	Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect	OMIM:613458
Limb Body Wall Complex	Ventricular septal defect, Abnormal heart morphology, Abnormality of the liver, Atrial septal def...	ORPHA:2369
Omodysplasia 1	Atrial septal defect, Pulmonary artery stenosis, Ventricular septal defect	OMIM:258315
Neurofibromatosis, Type I	Aqueductal stenosis, Hydrocephalus, Renal artery stenosis, Spina bifida	OMIM:162200
Weill-Marchesani Syndrome 2	Ventricular septal defect, Patent ductus arteriosus, Ascending aortic dissection, Pulmonic stenos...	OMIM:608328
Cerebellar-Facial-Dental Syndrome	Ascending tubular aorta aneurysm, Ventricular septal defect, Mitral valve prolapse	ORPHA:444072
Shprintzen-Goldberg Craniosynostosis Syndrome	Cryptorchidism, Hydrocephalus	OMIM:182212
Fraser Syndrome 1	Encephalocele, Hypospadias, Renal hypoplasia/aplasia, Cryptorchidism, Myelomeningocele, Hydroceph...	OMIM:219000
Laurin-Sandrow Syndrome	Cryptorchidism, Hydrocephalus	ORPHA:2378
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Atrial septal defect, Patent ductus arteriosus	OMIM:213980
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Atrial septal defect	ORPHA:522077
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Abnormal heart morpho...	ORPHA:353281
Capillary Malformation-Arteriovenous Malformation	Neurogenic bladder, Hydrocephalus	ORPHA:137667
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Hydrocephalus	OMIM:616007
Large Congenital Melanocytic Nevus	Hydrocephalus	ORPHA:626
Teebi-Shaltout Syndrome	Aortic valve stenosis, Ventricular septal defect	OMIM:272950
Thoracic Dysplasia-Hydrocephalus Syndrome	Communicating hydrocephalus	ORPHA:1861
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Ventricular septal defect, Abnormal heart morphology, Mitral valve prolapse, Pulmonic stenosis, A...	ORPHA:363700
Opitz Gbbb Syndrome	Ventricular septal defect	OMIM:300000
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Bicuspid aortic valve, Ventricular septal defect, Anomalous origin of left subclavian artery, Pat...	ORPHA:438213
Costello Syndrome	Ventricular septal defect, Mitral valve prolapse, Pulmonic stenosis, Atrial septal defect, Hypert...	OMIM:218040
Fraser Syndrome	Encephalocele, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, My...	ORPHA:2052
Baller-Gerold Syndrome	Optic nerve hypoplasia, Abnormality of the kidney, Hydrocephalus, Optic atrophy, Spina bifida occ...	OMIM:218600
Arboleda-Tham Syndrome	Ventricular septal defect, Secundum atrial septal defect, Patent ductus arteriosus, Pulmonic sten...	OMIM:616268
Cutis Laxa, Autosomal Recessive, Type Iic	Prominent superficial veins, Mitral valve prolapse, Biventricular hypertrophy, Atrial septal defe...	OMIM:617402
Okamoto Syndrome	Ventricular septal defect, Splenomegaly, Abnormal left ventricle morphology, Primum atrial septal...	ORPHA:2729
Kabuki Syndrome 1	Crossed fused renal ectopia, Cryptorchidism, Hydrocephalus, Micropenis, Lateral ventricle dilatat...	OMIM:147920
Osteogenesis Imperfecta	Hydrocephalus, Noncommunicating hydrocephalus, Hypercalciuria, Nephrolithiasis, Dysphagia, Ventri...	ORPHA:666
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Aplasia of the thymus, Prolonged neonatal jaundice, Atrial septal defect, Patent foramen ovale, R...	OMIM:620186
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Unilateral renal agenesis, Aganglionic...	OMIM:308205
Campomelic Dysplasia	Hypospadias, Spina bifida, Hydrocephalus, Spinal dysraphism, Hydronephrosis	OMIM:114290
Schinzel-Giedion Midface Retraction Syndrome	Atrial septal defect, Splenopancreatic fusion, Hepatoblastoma	OMIM:269150
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Elliptocytosis, Patent ductus arteriosus, Patent foramen ovale, Anemia	OMIM:300990
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Ventricular septal defect	OMIM:614653
Tbck-Related Intellectual Disability Syndrome	Ventricular septal defect, Pulmonic stenosis	ORPHA:488632
Goldberg-Shprintzen Syndrome	Ventricular septal defect	OMIM:609460
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Atrial septal defect, Partial anomalous pulmonary venous return, Ventricular septal defect	OMIM:301044
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve	OMIM:271640
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome	Atrial septal defect, Pulmonary artery stenosis, Dilatation of the ventricular cavity, Ventricula...	ORPHA:459070
Achondroplasia	Hydrocephalus	OMIM:100800
Ulnar-Mammary Syndrome	Ventricular septal defect	ORPHA:3138
Oculodentodigital Dysplasia	Atrial septal defect	OMIM:164200
Schimmelpenning-Feuerstein-Mims Syndrome	Cranial asymmetry	OMIM:163200
Eosinophilic Granulomatosis With Polyangiitis	Nasal polyposis	ORPHA:183
Mosaic Trisomy 20	Abnormal mitral valve morphology, Dysplastic tricuspid valve, Ventricular septal defect	ORPHA:1724
Esophageal Atresia	Tetralogy of Fallot, Ventricular septal defect, Coarctation of aorta	ORPHA:1199
Yunis-Varon Syndrome	Hypospadias, Cryptorchidism, Hydrocephalus, Renovascular hypertension, Renal artery stenosis, Mic...	ORPHA:3472
Oculodentodigital Dysplasia	Ventricular septal defect	ORPHA:2710
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Hepatomegaly, Ventricular septal defect, Hepatoblastoma, Pulmonary artery stenosis, Abnormal aort...	ORPHA:96334
45,X/46,Xy Mixed Gonadal Dysgenesis	Male infertility, Streak ovary, Unilateral cryptorchidism, Short stature, Bilateral cryptorchidis...	ORPHA:1772
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Abnormal heart morpho...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Abnormal heart morpho...	ORPHA:353277
Mohr Syndrome	Hydrocephalus	OMIM:252100
Semilobar Holoprosencephaly	Hydrocephalus, Neural tube defect, Attention deficit hyperactivity disorder, Dysphagia, Abnormali...	ORPHA:220386
Alobar Holoprosencephaly	Hydrocephalus, Neural tube defect, Attention deficit hyperactivity disorder, Dysphagia, Abnormali...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Hydrocephalus, Neural tube defect, Attention deficit hyperactivity disorder, Dysphagia, Abnormali...	ORPHA:93926
Lobar Holoprosencephaly	Hydrocephalus, Neural tube defect, Attention deficit hyperactivity disorder, Dysphagia, Abnormali...	ORPHA:93924
Catel-Manzke Syndrome	Overriding aorta, Ventricular septal defect, Dextrocardia, Coarctation of aorta	OMIM:616145
Helsmoortel-Van Der Aa Syndrome	Atrial septal defect, Mitral valve prolapse, Abnormal heart morphology	OMIM:615873
Turnpenny-Fry Syndrome	Patent ductus arteriosus, Mitral valve prolapse, Tricuspid valve prolapse, Atrial septal defect, ...	OMIM:618371
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Atrial septal defect, Total anomalous pulmonary venous return	OMIM:609945
Fontaine Progeroid Syndrome	Atrial septal defect, Prominent superficial veins, Bicuspid aortic valve, Patent ductus arteriosu...	OMIM:612289
Autosomal Recessive Malignant Osteopetrosis	Hydrocephalus, Optic nerve compression	ORPHA:667
Granulomatosis With Polyangiitis	Concave nasal ridge, Nasal mucosa vasculitis	OMIM:608710
Microphthalmia, Syndromic 3	Patent ductus arteriosus, Ventricular septal defect	OMIM:206900
Shprintzen-Goldberg Syndrome	Communicating hydrocephalus, Cryptorchidism, Ventriculomegaly	ORPHA:2462
Wiedemann-Rautenstrauch Syndrome	Hypospadias, Cryptorchidism, Hydrocephalus, Long penis, Dysphagia, Agenesis of corpus callosum, D...	OMIM:264090
Coffin-Siris Syndrome 12	Hypospadias, Facial palsy, Cryptorchidism, Noncommunicating hydrocephalus, Horseshoe kidney, Abno...	OMIM:619325
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Ventricular septal defect, Patent ductus arteriosus, Abnormal heart morphology, Aortic root aneur...	ORPHA:444077
Exercise-Induced Malignant Hyperthermia	Acute kidney injury, Oliguria	ORPHA:466650
Ciliary Dyskinesia, Primary, 43	Noncommunicating hydrocephalus	OMIM:618699
Johanson-Blizzard Syndrome	Hepatomegaly, Ventricular septal defect, Portal hypertension, Situs inversus totalis, Intrahepati...	OMIM:243800
Poland Syndrome	Atrial septal defect, Abnormality of the liver, Dextrocardia, Acute leukemia	ORPHA:2911
Peutz-Jeghers Syndrome	Nasal polyposis, Precocious puberty with Sertoli cell tumor	OMIM:175200
Cole-Carpenter Syndrome	Communicating hydrocephalus	ORPHA:2050
Chromosome 13Q14 Deletion Syndrome	Ventricular septal defect, Patent foramen ovale	OMIM:613884
Basal Cell Nevus Syndrome 1	Hydrocephalus, Spina bifida	OMIM:109400
Mowat-Wilson Syndrome	Ventricular septal defect, Pulmonary artery sling, Patent ductus arteriosus, Pulmonary artery ste...	OMIM:235730
Alström Syndrome	Urinary incontinence, Functional abnormality of the bladder, Hypoplasia of the Leydig cells, Micr...	ORPHA:64
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Retinal arteriolar tortuosity, Hydrocephalus, Retinal hemorrhage, Peripapillary atrophy, Facial p...	OMIM:175780
Absent Radius-Anogenital Anomalies Syndrome	Hydrocephalus	ORPHA:3016
Yellow Fever	Renal insufficiency, Anuria, Acute kidney injury	ORPHA:99829
Pmm2-Cdg	Mandibular prognathia, Pericarditis, Proteinuria, Pericardial effusion, Abnormal liver parenchyma...	ORPHA:79318
Williams-Beuren Syndrome	Bicuspid aortic valve, Ventricular septal defect, Portal hypertension, Retinal arteriolar tortuos...	OMIM:194050
Mandibuloacral Dysplasia Progeroid Syndrome	Hepatomegaly, Mitral valve calcification, Elevated hemoglobin A1c, Macrovesicular hepatic steatos...	OMIM:619127
Ctcf-Related Neurodevelopmental Disorder	Atrial septal defect, Patent ductus arteriosus, Coarctation of aorta, Prolonged neonatal jaundice	ORPHA:363611
Neurofibromatosis-Noonan Syndrome	Secundum atrial septal defect, Pulmonic stenosis	OMIM:601321
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Communicating hydrocephalus, Micropenis, Ventriculomegaly	ORPHA:457359
Orofaciodigital Syndrome Xiv	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:615948
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Patent ductus arteriosus, Ventricular septal defect, Cerebral hemorrhage	OMIM:616682
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Atrial septal defect, Tricuspid valve prolapse, Mitral valve prolapse	OMIM:601776
Keutel Syndrome	Peripheral pulmonary artery stenosis, Pulmonary artery hypoplasia, Ventricular septal defect, Pul...	OMIM:245150
Lhermitte-Duclos Disease	Hydrocephalus	ORPHA:65285
Diphallia	Atrial septal defect, Abnormal heart morphology	ORPHA:227
Faciocardiomelic Syndrome	Common atrium	OMIM:612731
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Ventricular septal defect	ORPHA:1071
Spondylometaphyseal Dysplasia, Sedaghatian Type	Atrial septal defect, Myocarditis	OMIM:250220
Floating-Harbor Syndrome	Atrial septal defect, Mesocardia, Persistent left superior vena cava, Coarctation of aorta	OMIM:136140
Chromosome 17Q23.1-Q23.2 Deletion Syndrome	Secundum atrial septal defect, Patent ductus arteriosus, Bicuspid aortic valve	OMIM:613355
Coffin-Siris Syndrome 1	Atrial septal defect, Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect	OMIM:135900
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Ventricular hypertrophy, Ventricular septal defect, Mitral stenosis, Tricuspid stenosis, Pulmonic...	OMIM:143095
Gaucher Disease, Type Iiic	Hydrocephalus	OMIM:231005
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Absent gallbladder, Transient ischemic attack, Patent ductus arteriosus after birth at term, Abno...	ORPHA:500150
Lethal Omphalocele-Cleft Palate Syndrome	Hydrocephalus	ORPHA:2736
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Ventricular septal defect, Ventricular septal hypertrophy	OMIM:608670
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Aortic valve stenosis, Ventricular septal defect, Abnormal pulmonary valve morphology, Abnormal h...	ORPHA:268261
Otopalatodigital Syndrome, Type Ii	Hypospadias, Spina bifida, Cryptorchidism, Hydrocephalus, Hydronephrosis	OMIM:304120
Hereditary Cryohydrocytosis With Reduced Stomatin	Communicating hydrocephalus, Hypoglycorrhachia	ORPHA:168577
Cystic Fibrosis	Male infertility, Failure to thrive	OMIM:219700
Craniotubular Dysplasia, Ikegawa Type	Ventricular septal defect	OMIM:619727
Congenital Disorder Of Glycosylation, Type Iim	Atrial septal defect	OMIM:300896
Restrictive Dermopathy 1	Atrial septal defect, Patent ductus arteriosus	OMIM:275210
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:619522
Benign Schwannoma	Nasal polyposis	ORPHA:252164
Early Infantile Epileptic Encephalopathy	Ventricular septal defect	ORPHA:1934
Pallister-Hall Syndrome	Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Atrial septal defect, ...	ORPHA:672
Familial Cerebral Cavernous Malformation	Venous malformation, Cerebral hemorrhage	ORPHA:221061
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Right aortic arch, Ventricular septal defect	ORPHA:513456
Osteoporosis-Pseudoglioma Syndrome	Ventricular septal defect	OMIM:259770
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Atrial septal defect, Cardiomyopathy, Patent ductus arteriosus, Cyst of the ductus choledochus	ORPHA:480880
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Communicating hydrocephalus, Ventriculomegaly	OMIM:617011
Orofaciodigital Syndrome Type 14	Patent ductus arteriosus, Ventricular septal defect	ORPHA:434179
Fetal Akinesia Deformation Sequence 1	Cryptorchidism, Hydrocephalus	OMIM:208150
Sotos Syndrome	Ventricular septal defect, Patent ductus arteriosus, Abnormal heart morphology, Acute lymphoblast...	ORPHA:821
Hypermobile Ehlers-Danlos Syndrome	Venous insufficiency, Ascending tubular aorta aneurysm, Arterial dissection, Cystocele	ORPHA:285
Proboscis Lateralis	Patent ductus arteriosus, Ventricular septal defect	ORPHA:141099
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Secundum atrial septal defect, Subarterial ventricular septal defect, Vascular tortuosity, Acute ...	ORPHA:99646
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Bilateral cryptorchidism, Hydrocephalus	ORPHA:3042
Ulnar-Mammary Syndrome	Ventricular septal defect	OMIM:181450
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Ventricular septal defect	OMIM:620330
Cystic Fibrosis	Nasal polyposis	ORPHA:586
Norrie Disease	Venous insufficiency, Malar flattening	ORPHA:649
Sarcoidosis	Abnormal nasal mucosa morphology	ORPHA:797
Yunis-Varon Syndrome	Cardiomyopathy, Ventricular septal defect, Tetralogy of Fallot, Patent foramen ovale	OMIM:216340

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 Cep290

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 Cep290.

There are 1 publication which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Nephronophthisis-Pathobiology and Molecular Pathogenesis of a Rare Kidney Genetic Disease.	Genes (November 2021)	Cep290^em1(IMPC)Mbp	PMC8623546

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MGI Allele	Allele Type	Produced
Cep290^em1H	Point Mutation	Mice
Cep290^{tm387964(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Cep290^em1(IMPC)Mbp	Exon Deletion	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: Cep290 MGI:2384917

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

MicroCT E18.5

Gross Morphology Embryo E18.5

X-ray

X-ray

Human diseases caused by Cep290 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data