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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
no spontaneous movement	Cep290^em1(IMPC)Mbp	HOM	E18.5	0.00
abnormal facial morphology	Cep290^em1(IMPC)Mbp	HOM	E18.5	0.00
decreased mean corpuscular hemoglobin	Cep290^em1(IMPC)Mbp	HET	Early adult	5.04×10^-05
abnormal blood vessel morphology	Cep290^em1(IMPC)Mbp	HOM	E18.5	0.00
decreased mean corpuscular hemoglobin concentration	Cep290^em1(IMPC)Mbp	HET	Early adult	5.03×10^-05
preweaning lethality, incomplete penetrance	Cep290^em1(IMPC)Mbp	HOM	Early adult	0.00
hemorrhage	Cep290^em1(IMPC)Mbp	HOM	E18.5	0.00
abnormal head shape	Cep290^em1(IMPC)Mbp	HOM	E18.5	0.00
no spontaneous movement	Cep290^em1(IMPC)Mbp	HET	E18.5	0.00

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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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X-ray

XRay Images Whole Body Dorso Ventral

30 Images

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Gross Morphology Embryo E18.5

Images

8 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 (2671 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, Nephronophthisis, Renal cortical cysts, Impaired renal concentrating abi...	OMIM:610188
Meckel Syndrome	Situs inversus totalis, Ureteral duplication, Multicystic kidney dysplasia, Accessory spleen, Asp...	ORPHA:564
Senior-Loken Syndrome 6	Aplasia/Hypoplasia of the cerebellar vermis, Rod-cone dystrophy	OMIM:610189
Senior-Loken Syndrome	Abnormality of retinal pigmentation, Retinal dystrophy	ORPHA:3156
Leber Congenital Amaurosis	Abnormality of retinal pigmentation, Abnormal optic disc morphology	ORPHA:65
Meckel Syndrome, Type 4	Atrial septal defect, Ventricular septal defect, Renal cyst, Bile duct proliferation	OMIM:611134
Bardet-Biedl Syndrome 14	Rod-cone dystrophy, Renal insufficiency	OMIM:615991
Joubert Syndrome With Oculorenal Defect	Aganglionic megacolon, Encephalocele, Retinal dystrophy, Hydrocephalus, Nephropathy, Chorioretina...	ORPHA:2318
Bardet-Biedl Syndrome	Rhinitis, Prominent nasal bridge, Depressed nasal bridge, Abnormality of the sense of smell	ORPHA:110

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	Anemia, Abnormal hemoglobin	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	Chorioretinal atrophy, Choriocapillaris atrophy, Pigmentary retinopathy	OMIM:215500
Retinal Dysplasia, Primary	Falciform retinal fold, Retinal dysplasia	OMIM:312550
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole	Retinal dystrophy, Drusen, Reticular pigmentary degeneration	OMIM:267800
Diamond-Blackfan Anemia-Like	Pure red cell aplasia, Steroid-responsive anemia	OMIM:617911
Retinitis Pigmentosa 36	Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse...	OMIM:610599
Macular Degeneration, Age-Related, 13	Macular degeneration, Macular scar, Drusen, Choroidal neovascularization	OMIM:615439
Hemoglobin D Disease	Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ...	ORPHA:90039
Delta-Beta-Thalassemia	Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231237
Retinitis Pigmentosa 48	Macular degeneration, Rod-cone dystrophy	OMIM:613827
Diamond-Blackfan Anemia 19	Erythroid hypoplasia, Steroid-responsive anemia, Anemia	OMIM:618312
Night Blindness, Congenital Stationary, Type 1D	Congenital stationary night blindness, Attenuation of retinal blood vessels, Macular atrophy, Pig...	OMIM:613830
Doyne Honeycomb Retinal Dystrophy	Retinal dystrophy, Reticular pigmentary degeneration	OMIM:126600
Anosmia For Isobutyric Acid	Partial anosmia	OMIM:207000
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
Macular Dystrophy, Patterned, 3	Macular atrophy, Rod-cone dystrophy, Choroidal neovascularization	OMIM:617111
Retinal Degeneration And Epilepsy	Retinal degeneration	OMIM:267740
Cone-Rod Dystrophy 7	Cone/cone-rod dystrophy, Retinal flecks, Macular atrophy, Bull's eye maculopathy	OMIM:603649
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10	Cerebellar dysplasia, Neural tube defect, Retinal dysplasia	OMIM:615041
Tricuspid Atresia	Hypoplasia of right ventricle, Transposition of the great arteries, Tricuspid atresia, Patent for...	ORPHA:1209
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
Female Infertility Due To Oocyte Meiotic Arrest	Abnormal meiosis, Oocyte arrest at metaphase I, Female infertility	ORPHA:488191
Macular Dystrophy, Retinal, 2	Granular macular appearance, Macular dystrophy, Perifoveal ring of hyperautofluorescence, Retinal...	OMIM:608051
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231242
Stargardt Disease 4	Macular degeneration, Retinal flecks	OMIM:603786
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
Exudative Vitreoretinopathy 7	Retinal detachment, Exudative vitreoretinopathy, Retinal degeneration, Retinal hole, Retinal fold	OMIM:617572
Oocyte/Zygote/Embryo Maturation Arrest 14	Oocyte maturation arrest, Female infertility	OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5	Female infertility, Lack of oocyte pronucleus formation	OMIM:617996
Stargardt Disease 3	Macular dystrophy, Macular atrophy, Macular flecks	OMIM:600110
Retinoschisis 1, X-Linked, Juvenile	Retinal detachment, Retinal atrophy, Retinoschisis, Peripheral cystoid retinal degeneration, Reti...	OMIM:312700
Heterotaxy, Visceral, 4, Autosomal	Transposition of the great arteries, Atrioventricular canal defect, Dextrocardia, Ectopia of the ...	OMIM:613751
Macular Dystrophy, Retinal, 1, North Carolina Type	Peripheral retinal atrophy, Abnormality of macular pigmentation, Macular dystrophy, Drusen	OMIM:136550
Leber Congenital Amaurosis 19	Retinal degeneration, Attenuation of retinal blood vessels, Optic disc pallor	OMIM:618513
Retinitis Pigmentosa 31	Attenuation of retinal blood vessels, Rod-cone dystrophy, Retinal pigment epithelial atrophy	OMIM:609923
Nephronophthisis 9	Polydipsia, Polyuria, Nephronophthisis, Renal cortical microcysts, Retinal degeneration, Stage 5 ...	OMIM:613824
Hemoglobin H Disease	HbH hemoglobin, Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio	OMIM:613978
Leber Congenital Amaurosis 13	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Optic disc pallor,...	OMIM:612712
Late-Onset Retinal Degeneration	Sub-RPE deposits, Choroidal neovascularization, Chorioretinal degeneration, Retinopathy, Retinal ...	OMIM:605670
Macular Dystrophy, Vitelliform, 2	Cystoid macular degeneration, Macular dystrophy, Subretinal fluid	OMIM:153700
Macular Degeneration, Atrophic, X-Linked	Macular degeneration	OMIM:300834
Musk, Inability To Smell	Anosmia	OMIM:254150
Retinopathy, Pericentral Pigmentary, Dominant	Bone spicule pigmentation of the retina, Retinal dystrophy, Retinal atrophy, Retinopathy, Attenua...	OMIM:180210
Grouped Pigmentation Of The Retina	Abnormality of retinal pigmentation	OMIM:233800
Hyperleucine-Isoleucinemia	Retinal degeneration	OMIM:238340
Oocyte/Zygote/Embryo Maturation Arrest 9	Oocyte arrest at metaphase I, Female infertility, Abnormality of the menstrual cycle	OMIM:619011
Nephronophthisis 16	Situs inversus totalis, Enlarged kidney, Nephronophthisis, Periportal fibrosis, Polycystic kidney...	OMIM:615382
X-Linked Retinal Dysplasia	Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia	ORPHA:1852
Sorsby Pseudoinflammatory Fundus Dystrophy	Macular dystrophy, Abnormal fundus autofluorescence imaging, Choroidal neovascularization, Chorio...	ORPHA:59181
Oocyte/Zygote/Embryo Maturation Arrest 21	Female infertility	OMIM:620610
Oocyte/Zygote/Embryo Maturation Arrest 13	Female infertility	OMIM:620154
Beta-Thalassemia, Dominant Inclusion Body Type	Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, Erythrocyte inc...	OMIM:603902
Ventricular Septal Defect 1	Atrioventricular canal defect, Pulmonic stenosis, Tetralogy of Fallot, Atrial septal defect, Vent...	OMIM:614429
Liberfarb Syndrome	Retinal degeneration, Bone spicule pigmentation of the retina, Retinal pigment epithelial mottlin...	OMIM:618889
Oocyte/Zygote/Embryo Maturation Arrest 12	Female infertility	OMIM:619697
Heterotaxy, Visceral, 6, Autosomal	Situs inversus totalis, Transposition of the great arteries, Dextrocardia, Right aortic arch, Tot...	OMIM:614779
Cayler Cardiofacial Syndrome	Ventricular septal defect, Tetralogy of Fallot, Patent ductus arteriosus	OMIM:125520
Alpha-Thalassemia Myelodysplasia Syndrome	HbH hemoglobin, Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio	OMIM:300448
Right Atrial Isomerism	Situs inversus totalis, Right atrial isomerism, Transposition of the great arteries, Dextrocardia...	OMIM:208530
Leber Congenital Amaurosis 10	Hyposmia	OMIM:611755
Cone-Rod Dystrophy 22	Hyperautofluorescent macular lesion, Bull's eye maculopathy, Attenuation of retinal blood vessels...	OMIM:619531
Retinal Cone Dystrophy 1	Cone/cone-rod dystrophy, Retinal degeneration, Bull's eye maculopathy	OMIM:180020
Laterality Defects, Autosomal Dominant	Situs inversus totalis, Heterotaxy, Asplenia	OMIM:601086
Cleft Lip-Retinopathy Syndrome	Retinopathy, Abnormality of retinal pigmentation	ORPHA:1995
Retinitis Pigmentosa 32	Bone spicule pigmentation of the retina, Photoreceptor layer loss on macular OCT, Pigmentary reti...	OMIM:609913
Premature Ovarian Failure 19	Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility	OMIM:619245
Genitopalatocardiac Syndrome	Transposition of the great arteries, Hypospadias, Right aortic arch, Renal cyst, Micrognathia, Do...	OMIM:231060
Senior-Loken Syndrome 4	Polydipsia, Polyuria, Nephronophthisis, Stage 5 chronic kidney disease, Rod-cone dystrophy	OMIM:606996
Congenital Heart Defects, Multiple Types, 6	Transposition of the great arteries, Hypoplastic pulmonary veins, Right aortic arch, Pulmonary ar...	OMIM:613854
Anemia, Sideroblastic, 4	Sideroblastic anemia, Abnormal erythrocyte morphology	OMIM:182170
Retinitis Pigmentosa 33	Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep...	OMIM:610359
Alpha-Thalassemia	Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio	OMIM:604131
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Ceroid Lipofuscinosis, Neuronal, 6A	Retinal degeneration	OMIM:601780
Retinitis Pigmentosa 39	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:613809
Premature Ovarian Failure 2B	Delayed puberty, Premature ovarian insufficiency, Female infertility, Primary amenorrhea	OMIM:300604
Choroideremia	Granular macular appearance, Bone spicule pigmentation of the retina, Chorioretinal degeneration,...	OMIM:303100
Bardet-Biedl Syndrome 13	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:615990
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin	ORPHA:231393
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Retinal degeneration	OMIM:251700
Thumb Agenesis, Short Stature, And Immunodeficiency	Anosmia	OMIM:274190
Cone-Rod Dystrophy 11	Cone/cone-rod dystrophy, Macular degeneration, Macular atrophy, Bull's eye maculopathy	OMIM:610381
Night Blindness, Congenital Stationary, Autosomal Dominant 1	Congenital stationary night blindness, Bone spicule pigmentation of the retina	OMIM:610445
Retinitis Pigmentosa 70	Macular degeneration, Attenuation of retinal blood vessels, Retinal degeneration, Rod-cone dystro...	OMIM:615922
Central Areolar Choroidal Dystrophy	Full-thickness macular hole, Drusen, Foveal photoreceptor outer segment loss on macular OCT, Abse...	ORPHA:75377
Spermatogenic Failure 17	Male infertility	OMIM:617214
Optic Atrophy 6	Optic atrophy, Retinal degeneration	OMIM:258500
Heterotaxy, Visceral, 7, Autosomal	Hypoplasia of right ventricle, Situs inversus totalis, Transposition of the great arteries, Abnor...	OMIM:616749
Hydatidiform Mole, Recurrent, 3	Female infertility	OMIM:618431
Hydatidiform Mole, Recurrent, 4	Female infertility	OMIM:618432
Retinitis Pigmentosa 81	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Optic disc pallor,...	OMIM:617871
Familial Drusen	Granular macular appearance, Macular dystrophy, Peripapillary chorioretinal atrophy, Choroidal ne...	ORPHA:75376
Persistent Placoid Maculopathy	Hypoplasia of the fovea, Abnormal macular morphology, Retinal pigment epithelial mottling, Choroi...	ORPHA:97341
Leber Congenital Amaurosis With Early-Onset Deafness	Retinal degeneration, Retinal pigment epithelial mottling, Peripapillary atrophy	OMIM:617879
Oocyte/Zygote/Embryo Maturation Arrest 10	Female infertility	OMIM:619176
Retinitis Pigmentosa 68	Rod-cone dystrophy, Bone spicule pigmentation of the retina, Retinal atrophy	OMIM:615725
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
Polycystic Kidney Disease 5	Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys, Hepatosplenomegaly, Reduced...	OMIM:617610
Macular Degeneration, Age-Related, 1	Geographic atrophy, Choroidal neovascularization, Macular degeneration, Foveal hypopigmentation, ...	OMIM:603075
Stargardt Disease	Retinal thinning, Abnormality of macular pigmentation, Macular degeneration, Yellow/white lesions...	ORPHA:827
Best Vitelliform Macular Dystrophy	Cystoid macular degeneration, Choroideremia	ORPHA:1243
Peripheral Cone Dystrophy	Optic atrophy, Cone/cone-rod dystrophy, Peripheral retinal degeneration, Optic disc pallor	OMIM:609021
Senior-Loken Syndrome 7	Retinal degeneration	OMIM:613615
Bardet-Biedl Syndrome 10	Rod-cone dystrophy, Retinal dystrophy, Renal insufficiency, Renal cyst	OMIM:615987
Bothnia Retinal Dystrophy	Increased OCT-measured foveal thickness, Macular degeneration, Pigmentary retinopathy, Abnormal f...	ORPHA:85128
Nephronophthisis 14	Situs inversus totalis, Polycystic kidney dysplasia, Nephronophthisis	OMIM:614844
Nephronophthisis	Abnormality of retinal pigmentation	ORPHA:655
Cone-Rod Dystrophy 5	Cone/cone-rod dystrophy, Macular degeneration, Retinal pigment epithelial mottling	OMIM:600977
Homocarnosinosis	Abnormality of skin pigmentation, Abnormality of retinal pigmentation	OMIM:236130
Conotruncal Heart Malformations	Transposition of the great arteries, Truncus arteriosus, Coarctation of aorta, Double outlet righ...	OMIM:217095
Spermatogenic Failure 35	Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Absent sperm f...	OMIM:618341
Charcot-Marie-Tooth Disease, Demyelinating, Type 1H	Macular degeneration	OMIM:619764
Bothnia Retinal Dystrophy	Macular degeneration, Retinal dystrophy	OMIM:607475
Apnea, Obstructive Sleep	Anosmia	OMIM:107650
Spermatogenic Failure 20	Short sperm flagella, Male infertility, Absent sperm flagella, Coiled sperm flagella	OMIM:617593
Ciliary Dyskinesia, Primary, 52	Situs inversus totalis, Transposition of the great arteries, Patent ductus arteriosus, Patent for...	OMIM:620570
Retinitis Pigmentosa 30	Optic atrophy, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Attenuation of ret...	OMIM:607921
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations	Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot	OMIM:601322
Ciliary Dyskinesia, Primary, 53	Abdominal situs inversus, Situs inversus totalis, Perimembranous ventricular septal defect, Paten...	OMIM:620642
16P13.11 Microduplication Syndrome	Transposition of the great arteries, Coarctation of aorta, Tetralogy of Fallot, Atrial septal def...	ORPHA:261243
Retinitis Pigmentosa 11	Bone spicule pigmentation of the retina, Macular degeneration, Perifoveal ring of hyperautofluore...	OMIM:600138
Fallot Complex With Severe Mental And Growth Retardation	Pulmonic stenosis, Double outlet right ventricle, Ventricular septal defect, Tetralogy of Fallot	OMIM:601127
Retinitis Pigmentosa 57	Bone spicule pigmentation of the retina, Cystoid macular edema, Attenuation of retinal blood vess...	OMIM:613582
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Anemia, Splenomegaly, Persistence of hemoglobin F	ORPHA:46532
Retinitis Pigmentosa 47	Chorioretinal atrophy, Rod-cone dystrophy, Pigmentary retinopathy	OMIM:613758
Retinitis Pigmentosa 13	Bone spicule pigmentation of the retina, Asteroid hyalosis, Cystoid macular edema, Optic disc dru...	OMIM:600059
Hemoglobin E Disease	Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H...	ORPHA:2133
Usher Syndrome, Type Iv	Retinal degeneration, Bone spicule pigmentation of the retina, Retinal atrophy, Hyperautofluoresc...	OMIM:618144
Heterotaxy, Visceral, 2, Autosomal	Abdominal situs inversus, Situs inversus totalis, Transposition of the great arteries, Atrioventr...	OMIM:605376
Tn Polyagglutination Syndrome	Abnormal erythrocyte morphology	OMIM:300622
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome	Abnormality of retinal pigmentation	ORPHA:2579
Spermatogenic Failure 72	Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced progre...	OMIM:619867
Spermatogenic Failure 34	Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ...	OMIM:618153
Spermatogenic Failure, X-Linked, 5	Short sperm flagella, Male infertility, Reduced sperm motility, Reduced progressive sperm motilit...	OMIM:301099
Meacham Syndrome	Enlarged kidney, Transposition of the great arteries, Partial anomalous pulmonary venous return, ...	OMIM:608978
Oocyte/Zygote/Embryo Maturation Arrest 8	Female infertility, Abnormality of the menstrual cycle	OMIM:619009
Nanophthalmos	Abnormality of retinal pigmentation, Abnormal choroid morphology	ORPHA:35612
Retinitis Pigmentosa 4	Bone spicule pigmentation of the retina, Retinal atrophy, Attenuation of retinal blood vessels, R...	OMIM:613731
Wagner Vitreoretinopathy	Optic atrophy, Peripheral tractional retinal detachment, Chorioretinal atrophy, Vitreoretinopathy...	OMIM:143200
Spermatogenic Failure 46	Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl...	OMIM:619095
Spermatogenic Failure 33	Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl...	OMIM:618152
Spermatogenic Failure 37	Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl...	OMIM:618429
Spermatogenic Failure 18	Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl...	OMIM:617576
Spermatogenic Failure 27	Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ...	OMIM:617965
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia	Anosmia	OMIM:615270
Heterotaxy, Visceral, 12, Autosomal	Pulmonic stenosis, Discordant atrioventricular connection, Patent foramen ovale, Left Isomerism, ...	OMIM:619702
Spermatogenic Failure 43	Male infertility, Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm...	OMIM:618751
Spermatogenic Failure 49	Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe...	OMIM:619144
Spermatogenic Failure 45	Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe...	OMIM:619094
Spermatogenic Failure 19	Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe...	OMIM:617592
Spermatogenic Failure 82	Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced progressive sperm motility...	OMIM:620353
Transposition Of The Great Arteries, Dextro-Looped	Transposition of the great arteries	OMIM:608808
Bestrophinopathy, Autosomal Recessive	Retinal flecks, Retinal pigment epithelial atrophy	OMIM:611809
Spermatogenic Failure 83	Altered location of the longitudinal column in the fibrous sheath, Male infertility, Reduced sper...	OMIM:620354
Heinz Body Anemias	Nonspherocytic hemolytic anemia, Heinz body anemia, Heinz bodies	OMIM:140700
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia	Anosmia	OMIM:614858
Congenital Heart Defects, Multiple Types, 4	Atrioventricular canal defect, Aortic valve stenosis, Coarctation of aorta, Tetralogy of Fallot, ...	OMIM:615779
Retinitis Pigmentosa 90	Bone spicule pigmentation of the retina, Cystoid macular edema, Attenuation of retinal blood vess...	OMIM:619007
Spinocerebellar Ataxia, Autosomal Recessive 12	Optic atrophy, Cerebellar vermis atrophy, Retinal degeneration, Cerebellar atrophy	OMIM:614322
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
Hypogonadotropic Hypogonadism 17 With Or Without Anosmia	Hyposmia	OMIM:615266
Progressive Bifocal Chorioretinal Atrophy	Macular atrophy, Pigmentary retinopathy, Chorioretinal dystrophy	ORPHA:75373
Hyperprolactinemia	Oligomenorrhea, Menorrhagia, Female infertility	OMIM:615555
Retinitis Pigmentosa 54	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy...	OMIM:613428
Oocyte/Zygote/Embryo Maturation Arrest 17	Amenorrhea, Female infertility	OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20	Amenorrhea, Female infertility	OMIM:620383
Retinitis Pigmentosa 38	Rod-cone dystrophy, Peripheral retinal atrophy, Macular atrophy, Optic disc pallor	OMIM:613862
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:1574
Atrial Septal Defect 4	Atrial septal defect, Patent foramen ovale, Coarctation of aorta	OMIM:611363
Spermatogenic Failure 84	Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress...	OMIM:620409
Retinitis Pigmentosa 96	Retinal thinning, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:620228
Spermatogenic Failure 65	Short sperm flagella, Male infertility, Oligozoospermia, Abnormal sperm mid-piece morphology, Red...	OMIM:619712
Congenital Heart Defects, Multiple Types, 5	Aortic valve stenosis, Tetralogy of Fallot, Bicuspid aortic valve, Atrial septal defect, Ventricu...	OMIM:617912
Retinitis Pigmentosa 88	Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular edema, Attenuation...	OMIM:618826
Hypoglossia With Situs Inversus	Situs inversus totalis, Micrognathia, Polysplenia, Asplenia	OMIM:612776
Spermatogenic Failure 56	Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress...	OMIM:619515
Renal-Hepatic-Pancreatic Dysplasia 1	Enlarged kidney, Hyperechogenic pancreas, Cholestasis, Biliary cirrhosis, Aortic valve stenosis, ...	OMIM:208540
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy	Macular degeneration, Subretinal deposits, Choriocapillaris atrophy	OMIM:601553
Progressive Cone Dystrophy	Abnormality of retinal pigmentation	ORPHA:1871
Spermatogenic Failure, X-Linked, 3	Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Absent sperm fla...	OMIM:301059
Spermatogenic Failure 62	Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia	OMIM:619673
Spermatogenic Failure 61	Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia	OMIM:619672
Spermatogenic Failure 88	Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia	OMIM:620547
Spermatogenic Failure 40	Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, C...	OMIM:618664
Chondrodysplasia Punctata 1, X-Linked Recessive	Short nose, Depressed nasal bridge, Anosmia, Short nasal septum	OMIM:302950
Pulmonary Atresia With Ventricular Septal Defect	Ventricular septal defect, Pulmonary artery atresia	OMIM:178370
Diamond-Blackfan Anemia 16	Pulmonic stenosis, Atrial septal defect, Anemia	OMIM:617408
Bardet-Biedl Syndrome 17	Polydipsia, Polyuria, Bone spicule pigmentation of the retina, Renal cyst, Cone/cone-rod dystroph...	OMIM:615994
Spermatogenic Failure 80	Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Abse...	OMIM:620222
Spermatogenic Failure 76	Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Irregularly shap...	OMIM:620084
Spermatogenic Failure 58	Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Immo...	OMIM:619585
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
Spermatogenic Failure 47	Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella	OMIM:619102
Retinitis Pigmentosa 95	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Perifoveal ring of...	OMIM:620102
Retinitis Pigmentosa 61	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:614180
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia	Anosmia	OMIM:612370
Ataxia-Tapetoretinal Degeneration Syndrome	Rod-cone dystrophy, Pigmentary retinopathy	ORPHA:1178
Nephronophthisis 11	Polydipsia, Polyuria, Nephronophthisis, Tubular basement membrane disintegration, Retinal degener...	OMIM:613550
Retinitis Pigmentosa 62	Bone spicule pigmentation of the retina, Bull's eye maculopathy, Attenuation of retinal blood ves...	OMIM:614181
Spermatogenic Failure 36	Male infertility, Abnormal sperm morphology	OMIM:618420
Bardet-Biedl Syndrome 16	Renal insufficiency, Renal cyst, Renal agenesis, Retinal degeneration, Renal dysplasia, Stage 5 c...	OMIM:615993
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia	Hyposmia, Bifid nose, Anosmia	OMIM:614838
Ventricular Septal Defect 3	Pulmonary artery stenosis, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus	OMIM:614432
Retinitis Pigmentosa 40	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:613801
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Cystoid macular degeneration, Retinal degeneration, Macular atrophy	OMIM:267760
Cone-Rod Dystrophy 13	Cone/cone-rod dystrophy, Macular degeneration	OMIM:608194
Retinitis Pigmentosa 19	Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep...	OMIM:601718
Retinitis Pigmentosa 9	Macular edema, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atrophy	OMIM:180104
Spermatogenic Failure 79	Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility	OMIM:620196
Cone-Rod Dystrophy 24	Macular degeneration, Macular drusen, Cone/cone-rod dystrophy, Attenuation of retinal blood vesse...	OMIM:620342
Spermatogenic Failure 7	Male infertility, Oligozoospermia, Immotile sperm, Reduced sperm motility	OMIM:612997
RCAD (renal cysts and diabetes)	Abnormality of the liver, Multiple renal cysts	DECIPHER:47
Heterotaxy, Visceral, 1, X-Linked	Enlarged kidney, Biliary atresia, Pulmonic stenosis, Absence of the sacrum, Cardiomegaly, Right a...	OMIM:306955
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:2246
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia	Anosmia	OMIM:615267
Spermatogenic Failure 10	Abnormal sperm morphology, Male infertility, Oligozoospermia, Reduced sperm motility	OMIM:614822
Spermatogenic Failure 11	Abnormal sperm morphology, Male infertility, Oligozoospermia, Reduced sperm motility	OMIM:615081
Retinitis Pigmentosa 73	Bone spicule pigmentation of the retina, Geographic atrophy, Retinal atrophy, Macular crystals, E...	OMIM:616544
Spermatogenic Failure 42	Short sperm flagella, Male infertility, Microcephalic sperm head, Tapered sperm head, Reduced spe...	OMIM:618745
Spermatogenic Failure 39	Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Reduced sperm motili...	OMIM:618643
Spermatogenic Failure 54	Short sperm flagella, Male infertility, Abnormal sperm axoneme morphology, Tapered sperm head, Ol...	OMIM:619379
Spermatogenic Failure 78	Male infertility, Tapered sperm head, Microcephalic sperm head	OMIM:620170
Adenylate Kinase Deficiency, Hemolytic Anemia Due To	Reduced erythrocyte adenylate kinase activity, Hemolytic anemia	OMIM:612631
Retinitis Pigmentosa 76	Retinal thinning, Bone spicule pigmentation of the retina, Hyperautofluorescent macular lesion, C...	OMIM:617123
Ophthalmoplegia, External, And Myopia	Retinal degeneration, Chorioretinal degeneration	OMIM:311000
Cyanosis, Transient Neonatal	Anemia, Methemoglobinemia, Reticulocytosis	OMIM:613977
Spermatogenic Failure 1	Male infertility, Oligozoospermia, Cryptozoospermia	OMIM:258150
Retinitis Pigmentosa 80	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular atrophy	OMIM:617781
Nephronophthisis-Like Nephropathy 2	Polydipsia, Polyuria, Tubular luminal dilatation, Periglomerular fibrosis, Stage 5 chronic kidney...	OMIM:619468
Spermatogenic Failure 41	Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Immotile sperm	OMIM:618670
Ceroid Lipofuscinosis, Neuronal, 2	Retinal degeneration	OMIM:204500
Retinitis Pigmentosa 84	Macular coloboma, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, ...	OMIM:618220
Retinitis Pigmentosa 27	Bone spicule pigmentation of the retina, Peripapillary chorioretinal atrophy, Chorioretinal atrop...	OMIM:613750
Blue Cone Monochromatism	Abnormality of retinal pigmentation	ORPHA:16
Male Infertility Due To Acephalic Spermatozoa	Male infertility, Acephalic spermatozoa, Oligozoospermia, Abnormal sperm mid-piece morphology, Re...	ORPHA:529970
Macular Dystrophy, Vitelliform, 3	Macular dystrophy, Drusen, Choroidal neovascularization, Vitelliform-like macular lesions, Macula...	OMIM:608161
Pigmented Paravenous Chorioretinal Atrophy	Paravenous chorioretinal atrophy, Vitreoretinopathy, Bone spicule pigmentation of the retina	OMIM:172870
Cone Dystrophy 3	Cone/cone-rod dystrophy, Macular atrophy	OMIM:602093
Spermatogenic Failure 48	Male infertility, Oligozoospermia, Spermatogenesis maturation arrest, Azoospermia	OMIM:619108
Retinitis Pigmentosa 87 With Choroidal Involvement	Nummular pigmentation of the fundus, Chorioretinal atrophy, Bone spicule pigmentation of the reti...	OMIM:618697
Spermatogenic Failure 29	Male infertility, Immotile sperm, Non-obstructive azoospermia	OMIM:618091
Intellectual Developmental Disorder And Retinitis Pigmentosa	Bone spicule pigmentation of the retina, Abnormal flash visual evoked potentials, Macular degener...	OMIM:618195
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Unilateral renal agenesis, Anomalous origin of left coronary artery from the pulmonary artery, Bi...	OMIM:618845
Diamond-Blackfan Anemia 3	Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol...	OMIM:610629
Spermatogenic Failure 5	Male infertility, Macrozoospermia, Multiflagellar spermatozoa	OMIM:243060
Bardet-Biedl Syndrome 9	Polydipsia, Bone spicule pigmentation of the retina, Renal insufficiency, Polyphagia, Attenuation...	OMIM:615986
Oculorenocerebellar Syndrome	Retinal degeneration	OMIM:257970
Retinitis Pigmentosa 7	Chorioretinal atrophy, Attenuation of retinal blood vessels, Rod-cone dystrophy, Pigmentary retin...	OMIM:608133
Retinal Dystrophy And Obesity	Retinal dystrophy, Retinal detachment, Retinal dots, Attenuation of retinal blood vessels, Peripa...	OMIM:616188
Spermatogenic Failure 21	Acephalic spermatozoa, Male infertility, Reduced sperm motility	OMIM:617644
Spermatogenic Failure 16	Acephalic spermatozoa, Male infertility, Reduced sperm motility	OMIM:617187
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Pigmentary retinopathy	OMIM:609016
X-Linked Neurodegenerative Syndrome, Bertini Type	Macular degeneration	ORPHA:85334
Cone-Rod Dystrophy 16	Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy, Attenuation of retinal blood ve...	OMIM:614500
Spermatogenic Failure 22	Male infertility, Cryptozoospermia, Non-obstructive azoospermia	OMIM:617706
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia	Hyposmia	OMIM:615271
Retinitis Pigmentosa 28	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc pallor	OMIM:606068
Poretti-Boltshauser Syndrome	Retinal thinning, Cerebellar cyst, Retinal dystrophy, Cerebellar vermis hypoplasia, Retinal atrop...	OMIM:615960
Morm Syndrome	Retinal atrophy, Retinal dystrophy	ORPHA:75858
Spermatogenic Failure 53	Male infertility, Tapered sperm head	OMIM:619258
Spermatogenic Failure 87	Male infertility, Ruffled acrosome	OMIM:620500
Spermatogenic Failure 31	Acephalic spermatozoa, Male infertility	OMIM:618112
Spermatogenic Failure 26	Acephalic spermatozoa, Male infertility	OMIM:617961
Hypogonadotropic Hypogonadism 27 Without Anosmia	Anosmia	OMIM:619755
Spermatogenic Failure 25	Male infertility, Spermatocyte maturation arrest, Cryptozoospermia, Non-obstructive azoospermia	OMIM:617960
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm	Male infertility, Abnormal sperm morphology, Immotile sperm	OMIM:608653
Nystagmus 6, Congenital, X-Linked	Hypopigmentation of the fundus, Retinal pigment epithelial mottling	OMIM:300814
Senior-Loken Syndrome 1	Polydipsia, Polyuria, Nephronophthisis, Retinal dystrophy, Tubulointerstitial fibrosis, Impaired ...	OMIM:266900
Spermatogenic Failure 57	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619528
Hanac Syndrome	Hematuria, Multiple renal cysts, Retinal vascular tortuosity, Renal insufficiency	ORPHA:73229
Retinitis Pigmentosa 17	Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:600852
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility	Situs inversus totalis, Dextrocardia, Asplenia	OMIM:618948
Body Mass Index Quantitative Trait Locus 19	Hyposmia, Anosmia	OMIM:617885
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Isomerism, Partial anomalous pulmonary venous return, Dextrocardia, Patent ductus arteriosus, Ven...	OMIM:619657
Peroxisome Biogenesis Disorder 3A (Zellweger)	Polycystic kidney dysplasia, Hepatomegaly, Vascular dilatation	OMIM:614859
Spermatogenic Failure 70	Male infertility, Reduced sperm motility, Oligozoospermia, Azoospermia	OMIM:619828
Spermatogenic Failure 64	Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti...	OMIM:619696
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease	Polycystic kidney dysplasia, Mitral valve prolapse, Cerebral berry aneurysm, Hepatic cysts, Renal...	OMIM:173900
Congenitally Uncorrected Transposition Of The Great Arteries	Abnormal ventriculoarterial connection, Hepatomegaly, Abnormal coronary artery morphology, Abnorm...	ORPHA:860
Spermatogenic Failure 86	Male infertility, Abnormal sperm head morphology, Acephalic spermatozoa, Acrosomal hypoplasia, Ru...	OMIM:620499
Microphthalmia, Isolated 5	Bone spicule pigmentation of the retina, Foveoschisis, Cystoid macular edema, Optic disc drusen, ...	OMIM:611040
Exudative Vitreoretinopathy 3	Retinal exudate, Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold	OMIM:605750
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia	Retinal degeneration	OMIM:617173
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia	Lattice retinal degeneration, Rhegmatogenous retinal detachment	OMIM:619248
Spermatogenic Failure 63	Male infertility, Oligozoospermia, Reduced progressive sperm motility	OMIM:619689
Primary Ciliary Dyskinesia	Situs inversus totalis, Transposition of the great arteries, Abnormal atrial arrangement, Abnorma...	ORPHA:244
Central Retinal Vein Occlusion	Retinal neovascularization, Macular degeneration, Cystoid macular edema, Intraretinal hemorrhage,...	ORPHA:411527
Neuropathy, Ataxia, And Retinitis Pigmentosa	Retinopathy, Rod-cone dystrophy, Retinal pigment epithelial mottling	OMIM:551500
Retinitis Pigmentosa 69	Perifoveal hypoautofluorescence, Rod-cone dystrophy, Pigmentary retinopathy	OMIM:615780
Congenital Heart Defects, Multiple Types, 9	Arteria lusoria, Transposition of the great arteries, Truncus arteriosus, Pulmonary artery atresi...	OMIM:620294
Bietti Crystalline Dystrophy	Retinal thinning, Chorioretinal degeneration, Cystoid macular edema, Subretinal deposits, Chorioc...	ORPHA:41751
Congenital Amegakaryocytic Thrombocytopenia	Thrombocytopenia, Anemia, Abnormal hemoglobin	ORPHA:3319
Cardiac-Urogenital Syndrome	Enlarged kidney, Mesocardia, Coronary sinus enlargement, Dysplastic tricuspid valve, Accessory sp...	OMIM:618280
Cone-Rod Dystrophy, X-Linked, 1	Hypoautofluorescent macular lesion, Retinal pigment epithelial mottling, Retinal pigment epitheli...	OMIM:304020
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
Retinitis Pigmentosa 86	Bone spicule pigmentation of the retina, Cystoid macular edema, Nummular pigmentation of the fund...	OMIM:618613
Oliver-Mcfarlane Syndrome	Central heterochromia, Retinal degeneration, Pigmentary retinopathy	OMIM:275400
Cone Rod Dystrophy	Abnormality of retinal pigmentation	ORPHA:1872
Spermatogenic Failure 50	Male infertility, Spermatogenesis maturation arrest, Azoospermia	OMIM:619145
Renal Hypoplasia	Abnormal renal tubule morphology, Polydipsia, Unilateral renal agenesis, Pelvic kidney, Recurrent...	ORPHA:93101
Polycystic Kidney Disease 7	Multiple renal cysts, Renal interstitial fibrosis, Stage 5 chronic kidney disease, Renal insuffic...	OMIM:620056
Aural Atresia, Congenital	Hyposmia	OMIM:607842
Distal 7Q11.23 Microdeletion Syndrome	Atrial septal defect, Patent ductus arteriosus	ORPHA:254351
Spermatogenic Failure 32	Male infertility, Non-obstructive azoospermia	OMIM:618115
Spermatogenic Failure 71	Male infertility, Non-obstructive azoospermia	OMIM:619831
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia	Hyposmia, Anosmia	OMIM:612702
Hepatorenocardiac Degenerative Fibrosis	Enlarged kidney, Jaundice, Tubular luminal dilatation, Cirrhosis, Hepatocellular carcinoma, Renal...	OMIM:619902
Partial Atrioventricular Septal Defect	Abnormal tricuspid valve morphology, Heterotaxy, Bacterial endocarditis, Coronary sinus enlargeme...	ORPHA:1330
Megabladder, Congenital	Left ventricular noncompaction cardiomyopathy, Patent ductus arteriosus, Bicuspid aortic valve, A...	OMIM:618719
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia	Hyposmia, Anosmia	OMIM:610628
Spermatogenic Failure 30	Male infertility, Spermatogenesis maturation arrest, Cryptozoospermia, Azoospermia	OMIM:618110
Retinitis Pigmentosa 79	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular atrophy, O...	OMIM:617460
Macular Degeneration, Age-Related, 3	Macular degeneration, Decreased nerve conduction velocity, Drusen, Choroidal neovascularization	OMIM:608895
Achromatopsia	Inner retinal layer loss on macular OCT, Attenuation of retinal blood vessels, Hypoplasia of the ...	ORPHA:49382
Asherman Syndrome	Secondary amenorrhea, Infertility, Oligomenorrhea, Dysmenorrhea, Abnormality of the menstrual cyc...	ORPHA:137686
Spondylometaphyseal Dysplasia, Axial	Optic atrophy, Rhizomelia, Cone/cone-rod dystrophy, Short stature, Reduced sperm motility, Dispro...	OMIM:602271
Campomelia, Cumming Type	Polycystic kidney dysplasia, Pancreatic cysts, Polysplenia, Polycystic liver disease	OMIM:211890
Renal Glucosuria	Polydipsia, Polyuria, Enuresis nocturna, Polyphagia, Glycosuria	OMIM:233100
Deafness-Infertility Syndrome	Male infertility, Abnormal sperm head morphology, Abnormal spermatogenesis, Reduced sperm motilit...	OMIM:611102
Retinitis Pigmentosa 77	Bone spicule pigmentation of the retina, Cystoid macular edema, Retinal atrophy, Attenuation of r...	OMIM:617304
Achromatopsia 7	Absent foveal reflex, Macular atrophy, Hypoplasia of the fovea	OMIM:616517
Ceroid Lipofuscinosis, Neuronal, 3	Optic atrophy, Macular degeneration, Abnormal cerebellum morphology, Retinal degeneration, Rod-co...	OMIM:204200
Nephronophthisis 3	Polydipsia, Polyuria, Enlarged kidney, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, ...	OMIM:604387
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Situs inversus totalis, Jaundice, Hepatomegaly, Dextrocardia, Recurrent urinary tract infections,...	OMIM:613095
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of retinal blood vessels,...	OMIM:616108
Myopia, High, With Cataract And Vitreoretinal Degeneration	Retinal detachment, Peripheral vitreoretinal degeneration, Vitreous floaters, Lattice retinal deg...	OMIM:614292
Bardet-Biedl Syndrome 4	Abnormality of the kidney, Retinal degeneration, Rod-cone dystrophy, Renal cyst	OMIM:615982
Cone-Rod Dystrophy 15	Attenuation of retinal blood vessels, Rod-cone dystrophy, Retinal pigment epithelial atrophy	OMIM:613660
Indomethacin Embryofetopathy	Abnormal renal tubule morphology, Multicystic kidney dysplasia, Renal insufficiency, Cardiomyopat...	ORPHA:1909
Ciliary Dyskinesia, Primary, 14	Chronic sinusitis, Situs inversus totalis, Heterotaxy, Polysplenia	OMIM:613807
Microphthalmia, Syndromic 9	Multilobulated spleen, Right aortic arch with mirror image branching, Hypoplastic left atrium, Pe...	OMIM:601186
Nephronophthisis 1	Polydipsia, Polyuria, Nephronophthisis, Hyposthenuria, Tubulointerstitial fibrosis, Tubular basem...	OMIM:256100
Nephronophthisis 15	Cerebellar vermis hypoplasia, Retinal degeneration	OMIM:614845
Fundus Dystrophy, Pseudoinflammatory, Recessive Form	Central retinal exudate, Peripheral retinal degeneration, Retinal hemorrhage	OMIM:264420
White Forelock With Malformations	Atrial septal defect, Prominent veins on trunk	OMIM:277740
Ceroid Lipofuscinosis, Neuronal, 7	Optic atrophy, Retinopathy, Pigmentary retinopathy	OMIM:610951
Premature Ovarian Failure 22	Secondary amenorrhea, Premature ovarian insufficiency, Female infertility	OMIM:620548
Atrial Septal Defect 2	Atrioventricular canal defect, Dextrocardia, Pulmonic stenosis, Patent ductus arteriosus, Atrial ...	OMIM:607941
Partial Chromosome Y Deletion	Male infertility, Abnormal spermatogenesis, Oligozoospermia, Non-obstructive azoospermia	ORPHA:1646
Meckel Syndrome 13	Polycystic kidney dysplasia, Micrognathia	OMIM:617562
Heterotaxy, Visceral, 8, Autosomal	Atrial situs ambiguous, Congenitally corrected transposition of the great arteries with ventricul...	OMIM:617205
Nephronophthisis 4	Polydipsia, Polyuria, Nephronophthisis, Tubulointerstitial fibrosis, Renal tubular atrophy, Stage...	OMIM:606966
Retinitis Pigmentosa 6	Rod-cone dystrophy, Pigmentary retinopathy, Chorioretinal degeneration	OMIM:312612
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Retinal dystrophy, Retinal detachment, Abnormality of skin pigmentation, Abnormality of retinal p...	OMIM:251270
Cone-Rod Dystrophy 21	Macular atrophy, Retinal dystrophy	OMIM:616502
Ciliary Dyskinesia, Primary, 25	Situs inversus totalis, Recurrent sinusitis, Dextrocardia, Polysplenia	OMIM:615482
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease	Polycystic kidney dysplasia, Hepatic cysts, Dilatation of the cerebral artery	OMIM:600666
Woronets Trait	Red blood cell keratocytosis	OMIM:194320
Retinopathy, Pericentral Pigmentary, Autosomal Recessive	Pigmentary retinopathy	OMIM:268060
Type 1 Diabetes Mellitus	Polydipsia, Polyuria, Polyphagia	OMIM:222100
Heterotaxy, Visceral, 5, Autosomal	Ureteral duplication, Ureteral stenosis, Absence of the sacrum, Right atrial isomerism, Ascending...	OMIM:270100
8p23.1 deletion syndrome	Atrial septal defect, Atrioventricular canal defect, Abnormal heart morphology	DECIPHER:39
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility	Situs inversus totalis, Primum atrial septal defect, Partial atrioventricular canal defect, Polys...	OMIM:619608
Renal Tubular Dysgenesis	Proximal tubulopathy, Nephropathy, Tetralogy of Fallot, Multiple renal cysts, Renotubular dysgenesis	ORPHA:3033
Atrioventricular Septal Defect 5	Atrioventricular canal defect, Muscular ventricular septal defect, Hypoplastic left heart	OMIM:614474
Chromosome 16P13.3 Deletion Syndrome, Proximal	Abnormality of the kidney, Micrognathia, Polysplenia, Hypoplastic left heart	OMIM:610543
Pentalogy Of Cantrell	Hypospadias, Renal agenesis, Abnormal pericardium morphology, Tetralogy of Fallot, Aplasia/Hypopl...	ORPHA:1335
Retinal Cone Dystrophy 4	Cone/cone-rod dystrophy, Retinal pigment epithelial mottling	OMIM:610478
Spermatogenic Failure, X-Linked, 6	Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Microcephalic ...	OMIM:301101
Atrial Septal Defect 8	Atrial septal defect, Anomalous pulmonary venous return	OMIM:614433
Congenital Disorder Of Glycosylation, Type If	Renal cortical cysts, Ventriculomegaly, Optic atrophy	OMIM:609180
Fetal Trimethadione Syndrome	Ventricular septal defect, Atrial septal defect, Transposition of the great arteries, Tetralogy o...	ORPHA:1913
Retinitis Pigmentosa 41	Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary retinopathy, Attenuatio...	OMIM:612095
Choroideremia	Abnormality of retinal pigmentation	ORPHA:180
Cutis Laxa, Autosomal Recessive, Type Ic	Retrognathia, Multiple bladder diverticula, Vascular dilatation, Accessory spleen, Patent foramen...	OMIM:613177
Mpdu1-Cdg	Renal cortical cysts, Ventriculomegaly, Optic atrophy	ORPHA:79323
Peroxisome Biogenesis Disorder 9B	Anosmia, Total anosmia	OMIM:614879
Diabetes And Deafness, Maternally Inherited	Retinal degeneration, Pigmentary retinopathy	OMIM:520000
Retinitis Pigmentosa 45	Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:613767
Cranioacrofacial Syndrome	Pulmonic stenosis, Ventricular septal defect	OMIM:122850
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Renal hypoplasia/aplasia, Vesicoureteral reflux, Abnormal aortic morphology, Micrognathia, Tetral...	ORPHA:1166
Mesoaxial Hexadactyly And Cardiac Malformation	Pulmonic stenosis, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus	OMIM:249670
Deafness-Infertility Syndrome	Male infertility, Azoospermia	ORPHA:94064
Oligomeganephronia	Polydipsia, Abnormal nephron morphology, Decreased glomerular filtration rate, Unilateral renal a...	ORPHA:2260
Deafness, Congenital Heart Defects, And Posterior Embryotoxon	Peripheral pulmonary artery stenosis, Ventricular septal defect, Tetralogy of Fallot	OMIM:617992
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia	Anosmia	OMIM:614839
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia	Hyposmia, Anosmia, Azoospermia	OMIM:614897
Joubert Syndrome 5	Occipital encephalocele, Nephronophthisis, Renal cortical cysts, Impaired renal concentrating abi...	OMIM:610188
Retinitis Pigmentosa 58	Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse...	OMIM:613617
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopenia, Restrictive cardio...	OMIM:619313
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia	Anosmia	OMIM:614842
Macular Dystrophy, Retinal, 3	Macular drusen, Retinal neovascularization, Hyperautofluorescent macular lesion, Retinal pigment ...	OMIM:608850
Joubert Syndrome 20	Retinopathy, Self-mutilation, Renal cyst, Aggressive behavior	OMIM:614970
Ritscher-Schinzel Syndrome 1	Hypospadias, Missing ribs, Pulmonic stenosis, Aortic valve stenosis, Micrognathia, Hydronephrosis...	OMIM:220210
Aneurysm Of Interventricular Septum	Abnormal ventricular septum morphology, Vascular dilatation	OMIM:105805
Senior-Loken Syndrome 3	Polydipsia, Polyuria, Nephronophthisis, Enuresis, Stage 5 chronic kidney disease, Renal corticome...	OMIM:606995
Spermatogenic Failure 81	Male infertility, Oligozoospermia, Acrosomal hypoplasia, Reduced progressive sperm motility	OMIM:620277
Sonoda Syndrome	Ventricular septal defect	OMIM:270460
Retinitis Pigmentosa 10	Bone spicule pigmentation of the retina, Geographic atrophy, Bull's eye maculopathy, Attenuation ...	OMIM:180105
Oguchi Disease	Congenital stationary night blindness, Macular degeneration, Rod-cone dystrophy, Mizuo phenomenon	ORPHA:75382
Meacham Syndrome	Situs inversus totalis, Transposition of the great arteries, Ventricular septal defect, Anomalous...	ORPHA:3097
Carpenter Syndrome 1	Transposition of the great arteries, Hydroureter, Persistence of primary teeth, Pulmonic stenosis...	OMIM:201000
Cardiac Septal Defects With Coarctation Of The Aorta	Perimembranous ventricular septal defect, Secundum atrial septal defect, Coarctation of aorta	OMIM:212090
Bardet-Biedl Syndrome 2	Retinal degeneration, Rod-cone dystrophy, Obesity, Hypogonadism	OMIM:615981
Ceroid Lipofuscinosis, Neuronal, 1	Optic atrophy, Macular degeneration, Retinal degeneration	OMIM:256730
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia	Hyposmia, Anosmia	OMIM:244200
Ochoa Syndrome	Polydipsia, Urinary incontinence, Urethral obstruction, Recurrent urinary tract infections, Vesic...	ORPHA:2704
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome	Cerebellar cyst, Inferior cerebellar vermis hypoplasia, Retinal dystrophy, Elongated superior cer...	ORPHA:370022
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Atrial septal defect, Anemia, Patent ductus arteriosus, 11 pairs of ribs, Accessory spleen, Paten...	OMIM:620005
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Polyuria, Renal potassium wasting, Hyperactivity, Nephrocalcinosis, Ventriculomegaly, Renal magne...	OMIM:618314
Recombinant Chromosome 8 Syndrome	Pulmonic stenosis, Micrognathia, Hydronephrosis, Tetralogy of Fallot, Malar flattening, Patent du...	OMIM:179613
Ciliary Dyskinesia, Primary, 40	Situs inversus totalis, Atrioventricular canal defect, Patent ductus arteriosus, Right aortic arc...	OMIM:618300
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Choanal atresia, Aplasia/Hypoplasia involving the nose, Abnormality of the sense of smell	ORPHA:1135
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Growth delay, Hypogonadism, Retinal degeneration, Small for gestational age, Pigmentary retinopathy	ORPHA:3363
Renal Dysplasia, Cystic, Susceptibility To	Vesicoureteral reflux, Hyperechogenic kidneys, Renal dysplasia, Renal insufficiency, Cystic renal...	OMIM:601331
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Poikilocytosis, Anisocytosis, Anemia of inadequate production, Oval macrocytosis	OMIM:603529
Leber Congenital Amaurosis 9	Optic atrophy, Macular coloboma, Macular hypopigmentation, Bone spicule pigmentation of the retin...	OMIM:608553
Feingold Syndrome 1	Annular pancreas, Tricuspid atresia, Accessory spleen, Interrupted aortic arch, Tricuspid stenosi...	OMIM:164280
Cystinosis	Polydipsia, Nephropathy, Retinopathy, Proteinuria, Motor stereotypy, Renal insufficiency, Aminoac...	ORPHA:213
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R...	ORPHA:251380
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia	Anosmia	OMIM:614880
Alagille Syndrome 2	Cholestatic liver disease, Hematuria, Renal tubular acidosis, Cholestasis, Renal cyst, Pulmonic s...	OMIM:610205
Renal-Hepatic-Pancreatic Dysplasia 2	Situs inversus totalis, Enlarged kidney, Hepatomegaly, Truncus arteriosus, Cholestasis, Hypertrop...	OMIM:615415
Nephronophthisis 2	Chronic tubulointerstitial nephritis, Enlarged kidney, Nephronophthisis, Renal cortical microcyst...	OMIM:602088
Leber Congenital Amaurosis 4	Cone/cone-rod dystrophy, Attenuation of retinal blood vessels, Macular atrophy, Optic disc pallor	OMIM:604393
Birdshot Chorioretinopathy	Abnormal chorioretinal morphology, Retinal thinning, Choroidal neovascularization, Vitritis, Cyst...	ORPHA:179
Criss-Cross Heart	Transposition of the great arteries, Tricuspid stenosis, Pulmonic stenosis, Abnormal mitral valve...	ORPHA:1461
Morning Glory Disc Anomaly	Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma	ORPHA:35737
Meckel Syndrome	Situs inversus totalis, Ureteral duplication, Multicystic kidney dysplasia, Accessory spleen, Asp...	ORPHA:564
Biliary, Renal, Neurologic, And Skeletal Syndrome	Inlet ventricular septal defect, Intrahepatic bile duct dilatation, Cholestasis, Biliary cirrhosi...	OMIM:619534
Hyperostosis Cranialis Interna	Hyposmia, Anosmia	OMIM:144755
Joubert Syndrome 16	Nephronophthisis, Retinal dystrophy, Encephalocele, Dandy-Walker malformation, Renal cyst	OMIM:614465
Bardet-Biedl Syndrome 21	Retinal thinning, Hyperautofluorescent macular lesion, Retinal atrophy, Cone/cone-rod dystrophy, ...	OMIM:617406
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome	Hydrocephalus, Dandy-Walker malformation, Optic atrophy	ORPHA:1538
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Occipital encephalocele, Hypospadias, Retinal dystrophy, Meningocele, Renal cortical cysts, Dandy...	ORPHA:397715
Retinitis Pigmentosa 1	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy...	OMIM:180100
Distal Duplication 17Q	Rhizomelia, Accessory spleen, Vesicoureteral reflux, Micrognathia, Abnormal heart morphology, Ren...	ORPHA:3379
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Cholestatic liver disease, Cirrhosis, Hepatomegaly, Anemia, Lymphadenopathy, Accessory spleen, Mi...	OMIM:619418
Hypogonadotropic Hypogonadism 25 With Anosmia	Anosmia	OMIM:618841
Congenital Stationary Night Blindness	Congenital stationary night blindness with abnormal fundus, Retinal thinning, Abnormality of reti...	ORPHA:215
Leber Congenital Amaurosis 8	Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fundus, Choriocapillaris at...	OMIM:613835
Newfoundland Rod-Cone Dystrophy	Bone spicule pigmentation of the retina, Retinal dystrophy	OMIM:607476
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
Blepharophimosis With Ptosis, Syndactyly, And Short Stature	Wide nasal bridge, Anosmia	OMIM:210745
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia	Hyposmia, Anosmia, Choanal atresia	OMIM:147950
Retinitis Pigmentosa 92	Pigmentary retinopathy	OMIM:619614
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Dilatation of the cerebral artery, Renal cyst, Polycystic liver disease	OMIM:174050
Vitreoretinal Degeneration, Snowflake Type	Retinal detachment, Retinal dots, Optically empty vitreous, Snowflake vitreoretinal degeneration	OMIM:193230
Cleidocranial Dysplasia, Recessive Form	Brachycephaly	OMIM:216330
Nephronophthisis 18	Nephronophthisis, Hydrocephalus, Thickened glomerular basement membrane, Renal tubular atrophy, S...	OMIM:615862
Blepharophimosis-Ptosis-Esotropia-Syndactyly-Short Stature Syndrome	Anosmia	ORPHA:2057
Isolated Polycystic Liver Disease	Hepatomegaly, Vascular dilatation, Polycystic liver disease, Multiple renal cysts, Abnormality of...	ORPHA:2924
Leber Congenital Amaurosis 2	Optic disc pallor, Fundus atrophy, Attenuation of retinal blood vessels, Absent foveal reflex, Pi...	OMIM:204100
Hypercalcemia, Infantile, 2	Polyuria, Renal phosphate wasting, Hypercalciuria, Medullary nephrocalcinosis, Nephrocalcinosis	OMIM:616963
Meckel Syndrome, Type 1	Vascular dilatation, Accessory spleen, Polycystic kidney dysplasia, Abnormality of the ureter, Re...	OMIM:249000
Multiple Mitochondrial Dysfunctions Syndrome 5	Pigmentary retinopathy	OMIM:617613
Aortic Valve Disease 3	Aortic root aneurysm, Aortic valve stenosis, Ascending aortic dissection, Bicuspid aortic valve, ...	OMIM:618496
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Enlarged kidney, Hepatomegaly, Periportal fibrosis, Tubulointerstitial fibrosis, Polycystic kidne...	OMIM:263200
6-Phosphogluconolactonase Deficiency	Hemolytic anemia	OMIM:172150
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction	Central retinal vessel vascular tortuosity, Retinal pigment epithelial mottling, Hyporeflective s...	ORPHA:506353
Nephronophthisis 20	Nephronophthisis, Vesicoureteral reflux, Renal cyst, Stage 5 chronic kidney disease, Renal insuff...	OMIM:617271
Distal Triplication 15Q	Abnormality of the kidney, Retrognathia, Hypoplastic aortic arch, Polycystic kidney dysplasia, Mi...	ORPHA:314588
Lissencephaly Syndrome, Norman-Roberts Type	Atrial septal defect, Patent foramen ovale, Hypoplastic spleen	ORPHA:89844
Meckel Syndrome, Type 11	Polycystic kidney dysplasia	OMIM:615397
Indifference To Pain, Congenital, Autosomal Recessive	Hyposmia, Anosmia	OMIM:243000
Hypotaurinemic Retinal Degeneration And Cardiomyopathy	Retinal thinning, Photoreceptor layer loss on macular OCT, Attenuation of retinal blood vessels, ...	OMIM:145350
Hyperparathyroidism 2 With Jaw Tumors	Renal cortical adenoma, Pancreatic adenocarcinoma, Polycystic kidney dysplasia, Nephrolithiasis, ...	OMIM:145001
Spinocerebellar Ataxia, Autosomal Recessive 29	Retinal pigment epithelial mottling, Optic disc pallor	OMIM:619389
Spinal Muscular Atrophy, Type I	Atrial septal defect, Ventricular septal defect	OMIM:253300
Adenosine Triphosphate, Elevated, Of Erythrocytes	Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia	OMIM:102900
Eng-Strom Syndrome	Ventricular septal defect, Abnormal cardiac septum morphology	ORPHA:1937
Arima Syndrome	Optic atrophy, Polyuria, Polydipsia, Nephronophthisis, Hematuria, Retinal dystrophy, Tubulointers...	OMIM:243910
Ceroid Lipofuscinosis, Neuronal, 5	Retinal degeneration, Cerebellar atrophy	OMIM:256731
Gillessen-Kaesbach-Nishimura Syndrome	Retrognathia, Periportal fibrosis, Polycystic kidney dysplasia, Micrognathia, Abnormal heart morp...	OMIM:263210
Ciliary Dyskinesia, Primary, 39	Double outlet right ventricle, Dextrocardia	OMIM:618254
Cone-Rod Dystrophy 3	Pigmentary retinopathy, Bull's eye maculopathy, Cone/cone-rod dystrophy, Attenuation of retinal b...	OMIM:604116
Meckel Syndrome, Type 8	Pericardial effusion, Polycystic kidney dysplasia, Enlarged kidney, Hyperechogenic kidneys	OMIM:613885
Double Outlet Right Ventricle	Heterotaxy, Truncus arteriosus, Pulmonary artery atresia, Pulmonic stenosis, Coarctation of aorta...	ORPHA:3426
Retinitis Pigmentosa 46	Attenuation of retinal blood vessels, Rod-cone dystrophy, Optic disc pallor, Pigmentary retinopathy	OMIM:612572
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction	Howell-Jolly bodies, Portal inflammation, Pulmonary artery atresia, Hepatic bridging fibrosis, Le...	OMIM:613759
Atrial Septal Defect 1	Atrial septal dilatation, Persistent left superior vena cava, Aortic valve stenosis, Tetralogy of...	OMIM:108800
Retinitis Pigmentosa 50	Retinal detachment, Attenuation of retinal blood vessels, Retinal flecks, Rod-cone dystrophy, Opt...	OMIM:613194
Heart Defects-Limb Shortening Syndrome	Abnormal mitral valve morphology, Atrial septal defect, Ventricular septal defect, Abnormal tricu...	ORPHA:1354
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Arteria lusoria, Anomalous origin of left pulmonary artery from ascending aorta, Transposition of...	ORPHA:99050
Chudley-Mccullough Syndrome	Cerebellar dysplasia, Cerebellar hypoplasia, Hydrocephalus	OMIM:604213
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia	Abnormality of the sense of smell	OMIM:146110
X-Linked Intellectual Disability-Plagiocephaly Syndrome	Brachycephaly, Plagiocephaly, Flat occiput, Bradycardia	ORPHA:2898
Solitary Median Maxillary Central Incisor	Anosmia, Choanal atresia, Midnasal stenosis, Abnormal nasopharynx morphology, Pyriform aperture s...	OMIM:147250
Apparent Mineralocorticoid Excess	Polydipsia, Nephrocalcinosis, Abnormal urine sodium concentration, Hypertensive retinopathy, Rena...	ORPHA:320
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome	Abnormality of retinal pigmentation, Facial palsy	ORPHA:2743
Truncus Arteriosus	Pulmonic stenosis, Abnormal heart morphology, Cardiomegaly, Transposition of the great arteries, ...	ORPHA:3384
Infundibulopelvic Dysgenesis	Microscopic hematuria, Multicystic kidney dysplasia	OMIM:600989
Senior-Loken Syndrome 6	Aplasia/Hypoplasia of the cerebellar vermis, Rod-cone dystrophy	OMIM:610189
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Decreased glomerular filtration rate, Polycystic kidney dysplasia, Hepatic cysts, Stage 5 chronic...	OMIM:618061
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy	Atrial septal defect, Ventricular septal defect	OMIM:614249
Adams-Oliver Syndrome 4	Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus	OMIM:615297
Bornholm Eye Disease	Optic nerve hypoplasia, Abnormality of retinal pigmentation	OMIM:300843
Retinitis Pigmentosa 56	Bone spicule pigmentation of the retina, Pigmentary retinopathy, Attenuation of retinal blood ves...	OMIM:613581
Asthma, Nasal Polyps, And Aspirin Intolerance	Nasal polyposis	OMIM:208550
Retinitis Pigmentosa 12	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy...	OMIM:600105
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia	ORPHA:231401
Congenital Heart Defects, Multiple Types, 3	Persistent left superior vena cava, Atrial septal defect, Abnormal heart morphology, Tetralogy of...	OMIM:614954
Brachytelephalangy-Dysmorphism-Kallmann Syndrome	Abnormal nostril morphology, Short nose, Anosmia	ORPHA:1295
Intellectual Developmental Disorder, Autosomal Dominant 66	Cerebral cavernous malformation, Secundum atrial septal defect, Transposition of the great arteri...	OMIM:619910
Trisomy 17P	Patent ductus arteriosus, Hypoplasia of penis, Polycystic kidney dysplasia, Aortic valve stenosis...	ORPHA:261290
Hypercalcemia, Infantile, 1	Polyuria, Hypercalciuria, Medullary nephrocalcinosis, Nephrolithiasis, Nephrocalcinosis	OMIM:143880
Canavan Disease	Optic atrophy, Abnormality of visual evoked potentials, Abnormality of retinal pigmentation	ORPHA:141
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome	Absent foveal reflex, Peripheral retinal atrophy, Retinal dystrophy	OMIM:615147
Isochromosomy Yp	Male infertility, Azoospermia	ORPHA:98797
Fanconi Anemia, Complementation Group W	Renal hypoplasia, Absent thumb, Polysplenia, Hypoplasia of the radius	OMIM:617784
Thomas Syndrome	Renal hypoplasia/aplasia, Multicystic kidney dysplasia, Hypoplastic left heart	ORPHA:3316
Premature Ovarian Failure 13	Oligomenorrhea, Amenorrhea, Female infertility	OMIM:617442
Persistent Mullerian Duct Syndrome, Types I And Ii	Male infertility	OMIM:261550
Autosomal Dominant Coarctation Of Aorta	Abnormal aortic arch morphology, Aortic arch aneurysm, Patent ductus arteriosus, Ventricular sept...	ORPHA:1455
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Enlarged kidney, Transposition of the great arteries, Atrioventricular canal defect, Dextrocardia...	OMIM:314390
Isolated Splenogonadal Fusion	Ectopia of the spleen, Abnormal penis morphology, Polysplenia	ORPHA:457083
22Q11.2 Duplication Syndrome	Transposition of the great arteries, Interrupted aortic arch, Tetralogy of Fallot, Aplasia/Hypopl...	ORPHA:1727
Spermatogenic Failure, X-Linked, 7	Male infertility, Multiflagellar spermatozoa, Reduced sperm motility, Globozoospermia, Excess res...	OMIM:301106
Spinocerebellar Ataxia 7	Optic atrophy, Macular degeneration, Pigmentary retinopathy	OMIM:164500
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy	Pigmentary retinopathy	OMIM:619090
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Anemia, Vascular dilatation, Focal segmental glomerulosclerosis, Renal cyst, Chronic kidney disea...	OMIM:617056
Leukoencephalopathy With Dystonia And Motor Neuropathy	Hyposmia, Azoospermia	OMIM:613724
Retinitis Pigmentosa 2	Chorioretinal degeneration, Fundus atrophy, Bull's eye maculopathy, Rod-cone dystrophy, Pigmentar...	OMIM:312600
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects	Pulmonary artery atresia, Secundum atrial septal defect, Tetralogy of Fallot, Left ventricular hy...	OMIM:108900
Spermatogenic Failure 85	Male infertility, Acephalic spermatozoa, Globozoospermia, Reduced progressive sperm motility, Coi...	OMIM:620490
Ciliary Dyskinesia, Primary, 1	Absent outer dynein arms, Nasal polyposis, Anosmia, Chronic rhinitis	OMIM:244400
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Polyuria, Proximal tubulopathy, Pigmentary retinopathy	OMIM:560000
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Anosmia, Azoospermia	OMIM:614837
Stromme Syndrome	Micrognathia, Hydronephrosis, Bilateral renal hypoplasia, Accessory spleen	OMIM:243605
Central Diabetes Insipidus	Polydipsia, Nocturia, Anorexia	ORPHA:178029
Cardiac Diverticulum	Abnormal coronary artery origin, Aortic valve stenosis, Abnormal heart morphology, Mitral valve p...	ORPHA:1686
Phenobarbital Embryopathy	Aplasia/Hypoplasia of fingers, Hypospadias, Mandibular prognathia, Abnormal mitral valve morpholo...	ORPHA:1919
Cone-Rod Dystrophy 8	Macular degeneration, Abnormal optic nerve morphology, Cone/cone-rod dystrophy, Abnormality of re...	OMIM:605549
Cone-Rod Dystrophy 10	Attenuation of retinal blood vessels, Macular degeneration, Bone spicule pigmentation of the reti...	OMIM:610283
Retinitis Pigmentosa 51	Attenuation of retinal blood vessels, Macular degeneration, Bone spicule pigmentation of the reti...	OMIM:613464
Retinitis Pigmentosa 83	Bone spicule pigmentation of the retina, Asteroid hyalosis, Cystoid macular edema, Vitreous float...	OMIM:618173
Congenital Disorder Of Glycosylation, Type Il	Hepatomegaly, Polycystic kidney dysplasia, Pericardial effusion, Splenomegaly, Atrial septal defect	OMIM:608776
Renal Coloboma Syndrome	Optic nerve dysplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Retinal coloboma, Ren...	ORPHA:1475
Ciliary Dyskinesia, Primary, 44	Recurrent sinusitis, Heterotaxy	OMIM:618781
Congenital Heart Defects, Multiple Types, 2	Myxomatous mitral valve degeneration, Aortic aneurysm, Aortic valve stenosis, Tetralogy of Fallot...	OMIM:614980
Spermatogenic Failure, X-Linked, 2	Male infertility, Spermatogenesis maturation arrest, Testicular atrophy, Azoospermia	OMIM:309120
Premature Ovarian Failure 20	Secondary amenorrhea, Female infertility	OMIM:619938
Microcephaly-Cardiomyopathy Syndrome	Abnormality of retinal pigmentation	ORPHA:2515
Renal Hypodysplasia/Aplasia 3	Vesicoureteral reflux, Renal agenesis, Hydronephrosis, Renal dysplasia, Multicystic kidney dyspla...	OMIM:617805
Femoral-Facial Syndrome	Renal hypoplasia/aplasia, Long penis, Polycystic kidney dysplasia, Aplasia/Hypoplasia of the tibi...	ORPHA:1988
Multiple Acyl-Coa Dehydrogenase Deficiency	Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Polycystic kidney dysplasia, ...	OMIM:231680
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Optic atrophy, Hydrocephalus, Hyperactivity, Motor stereotypy, Aggressive behavior	OMIM:619470
Mucolipidosis Iv	Optic atrophy, Retinal degeneration, Cerebellar atrophy	OMIM:252650
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia	Anosmia	OMIM:616030
Retinitis Pigmentosa 49	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy...	OMIM:613756
Meckel Syndrome, Type 7	Situs inversus totalis, Atrial septal defect, Multiple glomerular cysts, Multicystic kidney dyspl...	OMIM:267010
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Optic atrophy, Cerebellar atrophy, Retinopathy, Hypoplasia of the pons, Cerebellar hypoplasia, Ma...	OMIM:616171
Rubinstein-Taybi Syndrome 1	Retrognathia, Mitral valve prolapse, Hepatic hemangioma, Perimembranous ventricular septal defect...	OMIM:180849
Peroxisome Biogenesis Disorder 6A (Zellweger)	Colpocephaly, Renal cyst	OMIM:614870
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement	Macular coloboma, Abnormality of retinal pigmentation, Chorioretinal coloboma	ORPHA:2196
Chromosome 15Q25 Deletion Syndrome	Dextrocardia, Macrocytic anemia, Coronary artery fistula, Dilatation of renal calices, Ventricula...	OMIM:614294
Fadd-Related Immunodeficiency	Hepatic fibrosis, Ventricular septal defect, Pulmonary artery atresia	ORPHA:306550
Joubert Syndrome 18	Retrognathia, Intrahepatic biliary atresia, Renal cyst, Ventricular septal defect, Horseshoe kidney	OMIM:614815
Aplasia Cutis-Myopia Syndrome	Abnormality of retinal pigmentation	ORPHA:1117
Retinitis Pigmentosa 43	Bone spicule pigmentation of the retina, Pigmentary retinopathy, Attenuation of retinal blood ves...	OMIM:613810
Hypoplastic Left Heart Syndrome	Patent ductus arteriosus, Hypoplastic aortic arch, Mitral stenosis, Mitral atresia, Atrial septal...	ORPHA:2248
Oculocutaneous Albinism Type 4	Optic nerve misrouting, Hypopigmentation of hair, Hypopigmentation of the skin, White hair, Iris ...	ORPHA:79435
Premature Ovarian Failure 6	Premature ovarian insufficiency, Secondary amenorrhea, Female infertility, Primary amenorrhea, St...	OMIM:612310
Retinitis Punctata Albescens	Yellow/white lesions of the retina, Cystoid macular edema, Retinal atrophy, Attenuation of retina...	ORPHA:52427
Abetalipoproteinemia	Retinopathy, Retinal degeneration	OMIM:200100
Birdshot Chorioretinopathy	Abnormal chorioretinal morphology, Vitreous floaters, Vitritis, Retinal pigment epithelial atrophy	OMIM:605808
Eem Syndrome	Retinopathy, Macular dystrophy, Abnormality of retinal pigmentation	ORPHA:1897
Syndromic Diarrhea	Bicuspid aortic valve, Cirrhosis, Hepatomegaly, Atrial septal defect, Patent ductus arteriosus, P...	ORPHA:84064
Spermatogenic Failure 38	Male infertility, Abnormal sperm head morphology, Tapered sperm head, Oligozoospermia, Reduced sp...	OMIM:618433
Whim Syndrome 2	Chronic neutropenia, Tetralogy of Fallot	OMIM:619407
Severe Early-Childhood-Onset Retinal Dystrophy	Granular macular appearance, Macular coloboma, Bone spicule pigmentation of the retina, Retinal d...	ORPHA:364055
Rhyns Syndrome	Rod-cone dystrophy, Nephronophthisis, Multicystic kidney dysplasia	ORPHA:140976
Cone-Rod Dystrophy 20	Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Optic disc pallor	OMIM:615973
Senior-Boichis Syndrome	Polydipsia, Agitation, Tubular luminal dilatation, Aggressive behavior, Renal atrophy, Abnormal r...	ORPHA:84081
Retinitis Pigmentosa 60	Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep...	OMIM:613983
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps	Hematuria, Renal insufficiency, Retinal hemorrhage, Renal cyst, Retinal arteriolar tortuosity	OMIM:611773
Peroxisome Biogenesis Disorder 2A (Zellweger)	Jaundice, Hepatomegaly, Polycystic kidney dysplasia, Intrahepatic biliary dysgenesis, Hypoplasia ...	OMIM:214110
Glutathione Synthetase Deficiency	Pigmentary retinopathy	OMIM:266130
Testicular Anomalies With Or Without Congenital Heart Disease	Corpus cavernosum hypoplasia, Perineal hypospadias, Tetralogy of Fallot, Microphallus	OMIM:615542
Aortic Valve Disease 1	Ventricular septal defect, Aortic valve stenosis, Mitral stenosis, Tetralogy of Fallot, Aortic va...	OMIM:109730
Spermatogenic Failure 6	Male infertility, Globozoospermia, Decreased acrosin in sperm head	OMIM:102530
Atrial Septal Defect 6	Atrial septal defect	OMIM:613087
Autosomal Dominant Polycystic Kidney Disease	Enlarged kidney, Dilatation of the cerebral artery, Hematuria, Decreased glomerular filtration ra...	ORPHA:730
Retinitis Pigmentosa 25	Bone spicule pigmentation of the retina, Chorioretinal atrophy, Attenuation of retinal blood vess...	OMIM:602772
Diabetic Embryopathy	Transposition of the great arteries, Abnormal aortic morphology, Tetralogy of Fallot, Ventricular...	ORPHA:1926
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Ventriculomegaly, Optic disc pallor, Ectopic kidney, Cystic renal dysplasia	OMIM:613730
Scimitar Syndrome	Mitral atresia, Abnormal heart morphology, Interrupted inferior vena cava with azygous continuati...	ORPHA:185
Spermatogenic Failure 75	Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia	OMIM:619949
Stormorken Syndrome	Hematuria, Anemia, Howell-Jolly bodies, Asplenia, Stroke-like episode, Hypoplastic spleen, Thromb...	OMIM:185070
Jalili Syndrome	Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy, Attenuation of retinal blood ve...	OMIM:217080
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia	Abnormality of the sense of smell, Azoospermia	OMIM:229070
Diprosopus	Abnormality of retinal pigmentation	ORPHA:1681
Peroxisome Biogenesis Disorder 8A (Zellweger)	Jaundice, Ventricular septal defect, Hepatomegaly	OMIM:614876
Spermatogenic Failure 44	Acephalic spermatozoa, Male infertility, Reduced sperm motility	OMIM:619044
Hsd10 Mitochondrial Disease	Optic atrophy, Retinal degeneration	OMIM:300438
Ciliary Dyskinesia, Primary, 50	Short sperm flagella, Male infertility, Reduced sperm motility, Reduced progressive sperm motilit...	OMIM:620356
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Ventricular septal defect, Accessory spleen	OMIM:619306
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Hyposmia, Anosmia, Azoospermia	OMIM:308700
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Pulmonic stenosis, Micrognathia, Tetralogy of Fallot, Patent ductus arteriosus, Persistent left s...	ORPHA:3304
Bartter Syndrome, Type 3	Renal salt wasting, Polyuria, Hyperchloriduria, Hypocalciuria, Renal potassium wasting, Nephrocal...	OMIM:607364
Peroxisome Biogenesis Disorder 1A (Zellweger)	Subependymal cysts, Hypospadias, Optic disc pallor, Renal cortical microcysts, Hydronephrosis, Dy...	OMIM:214100
Kearns-Sayre Syndrome	Abnormality of retinal pigmentation	ORPHA:480
Johnson Neuroectodermal Syndrome	Bulbous nose, Anosmia, Choanal atresia	ORPHA:2316
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Anosmia	OMIM:614841
Teratoma, Pineal	Polydipsia, Polyuria	OMIM:273120
Papillorenal Syndrome	Renal malrotation, Morning glory anomaly, Hematuria, Horseshoe kidney, Retinal detachment, Macula...	OMIM:120330
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Tud Deficiency	Brachycephaly	ORPHA:404493
Kleine-Levin Syndrome	Polydipsia, Agitation, Abnormal eating behavior, Polyphagia, Repetitive compulsive behavior, Swee...	ORPHA:33543
Reese Retinal Dysplasia	Remnants of the hyaloid vascular system, Retinal dysplasia	OMIM:266400
Bardet-Biedl Syndrome 6	Pigmentary retinopathy, Rod-cone dystrophy, Hypospadias, Renal cyst	OMIM:605231
Spermatogenic Failure 9	Male infertility, Globozoospermia	OMIM:613958
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
Transaldolase Deficiency	Cirrhosis, Anemia, Coarctation of aorta, Thrombocytopenia, Hepatosplenomegaly, Atrial septal defe...	ORPHA:101028
Diencephalic Syndrome	Hydrocephalus, Optic atrophy, Long penis	ORPHA:1672
Retinitis Pigmentosa 23	Absent foveal reflex, Attenuation of retinal blood vessels, Rod-cone dystrophy, Retinal pigment e...	OMIM:300424
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Hydrocephalus, Ventriculomegaly, Retinal dysplasia	OMIM:614830
Cone-Rod Dystrophy 2	Bone spicule pigmentation of the retina, Chorioretinal atrophy, Cone/cone-rod dystrophy, Retinal ...	OMIM:120970
Senior-Loken Syndrome	Abnormality of retinal pigmentation, Retinal dystrophy	ORPHA:3156
Nphp3-Related Meckel-Like Syndrome	Abnormal liver parenchyma morphology, Abnormal biliary tract morphology, Renal dysplasia, Multicy...	ORPHA:3032
Odontochondrodysplasia 1	Nephronophthisis, Delayed eruption of teeth, Polycystic kidney dysplasia, Short metacarpal, Micro...	OMIM:184260
Leber Congenital Amaurosis 1	Optic disc drusen, Attenuation of retinal blood vessels, Pigmentary retinopathy, Fundus atrophy	OMIM:204000
Peroxisome Biogenesis Disorder 5A (Zellweger)	Optic nerve dysplasia, Optic atrophy, Hypospadias, Polycystic kidney dysplasia, Renal cyst, Renal...	OMIM:614866
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Cerebellar cyst, Retinal detachment, Optic nerve hypoplasia, Hydrocephalus, Hypoplasia of the pon...	OMIM:615181
Tetralogy Of Fallot And Glaucoma	Tetralogy of Fallot	OMIM:187501
Septo-Optic Dysplasia Spectrum	Polydipsia, Hypoplasia of penis, Optic nerve hypoplasia, Septo-optic dysplasia, Agenesis of corpu...	ORPHA:3157
Carpenter Syndrome	Polysplenia, Patent ductus arteriosus	ORPHA:65759
Right Pulmonary Artery, Anomalous Origin Of, Familial	Patent foramen ovale, Anomalous origin of right pulmonary artery from ascending aorta, Coarctatio...	OMIM:610338
Mitochondrial Complex I Deficiency, Nuclear Type 39	Perimembranous ventricular septal defect, Anemia, Hypertrophic cardiomyopathy, Cardiomegaly, Atri...	OMIM:620135
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive	Hydrocephalus, Optic atrophy, Calcium oxalate nephrolithiasis	OMIM:248000
Hydrolethalus Syndrome 1	Hypospadias, Accessory spleen, Upper limb undergrowth, Micrognathia, Hydronephrosis, Proximal tib...	OMIM:236680
Sjögren-Larsson Syndrome	Retinopathy, Macular degeneration, Abnormality of retinal pigmentation, Generalized hyperpigmenta...	ORPHA:816
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Hydrocephalus, Ventriculomegaly, Attention deficit hyperactivity disorder, Motor stereotypy	OMIM:618709
Diabetes Insipidus, Nephrogenic, 2, Autosomal	Polydipsia, Polyuria, Megacystis	OMIM:125800
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Aortic aneurysm, Abnormal renal morphology, Patent foramen ovale, Persistent left superior vena c...	ORPHA:477817
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Patent foramen ovale, Transposition of the great arteries	OMIM:616789
Diabetes Insipidus, Nephrogenic, 1, X-Linked	Polydipsia, Polyuria, Megacystis	OMIM:304800
Hydrocephalus, Congenital, 1	Hydrocephalus, Ventriculomegaly	OMIM:236600
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Parachute mitral valve, Mesenteric cyst, Hypospadias, Patent foramen ovale, Pulmonary artery atre...	OMIM:618316
Late-Onset Retinal Degeneration	Iris transillumination defect, Drusen, Choroidal neovascularization, Patchy atrophy of the retina...	ORPHA:67042
Fried Syndrome	Hydrocephalus, Abnormal optic nerve morphology, Aggressive behavior	ORPHA:85335
Structural Heart Defects And Renal Anomalies Syndrome	Tricuspid atresia, Interrupted aortic arch, Right aortic arch, Truncus arteriosus, Renal cyst, Te...	OMIM:617478
Developmental And Epileptic Encephalopathy 36	Hydrocephalus, Optic atrophy, Self-mutilation	OMIM:300884
Exudative Vitreoretinopathy 6	Posterior vitreous detachment, Retinal exudate, Patchy atrophy of the retinal pigment epithelium,...	OMIM:616468
Retinitis Pigmentosa 3	Perifoveal hypoautofluorescence, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:300029
Retinal Cone Dystrophy 3B	Cone/cone-rod dystrophy, Macular atrophy	OMIM:610356
Hypotrichosis With Juvenile Macular Degeneration	Abnormality of macular pigmentation, Macular degeneration, Freckling, Melanocytic nevus	ORPHA:1573
Mosaic Trisomy 1	Renal cortical cysts, Renal cyst, Lateral ventricle dilatation, Agenesis of corpus callosum, Peni...	ORPHA:1692
Sjogren-Larsson Syndrome	Macular dots, Retinal thinning, Macular degeneration, Macular crystals, Retinal pigment epithelia...	OMIM:270200
Joubert Syndrome 7	Nephronophthisis, Retinal dystrophy, Encephalocele, Renal cyst, Stage 5 chronic kidney disease	OMIM:611560
Fetal Minoxidil Syndrome	Ventricular septal defect	ORPHA:1918
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Hypospadias, Polycystic kidney dysplasia, Short ribs, Renal cyst, Micromelia, Renal hypoplasia, M...	OMIM:614091
Venous Malformations, Multiple Cutaneous And Mucosal	Venous malformation	OMIM:600195
Immunodeficiency 47	Normocytic anemia, Cirrhosis, Hepatomegaly, Accessory spleen, Cholestasis, Prolonged neonatal jau...	OMIM:300972
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation	Atrial septal defect, Ventricular septal defect	OMIM:608227
Short Stature, Developmental Delay, And Congenital Heart Defects	Atrial septal defect, Patent foramen ovale, Ventricular septal defect, Patent ductus arteriosus	OMIM:617044
Atrial Septal Defect 5	Secundum atrial septal defect	OMIM:612794
Atrial Septal Defect 3	Secundum atrial septal defect	OMIM:614089
Prune Belly Syndrome	Hydroureter, Renal insufficiency, Abnormality of the bladder, Recurrent urinary tract infections,...	ORPHA:2970
8P23.1 Duplication Syndrome	Pulmonic stenosis, Hydronephrosis, Ventricular septal defect, Tetralogy of Fallot	ORPHA:251076
Leber Congenital Amaurosis	Abnormality of retinal pigmentation, Abnormal optic disc morphology	ORPHA:65
Congenital Anomalies Of Kidney And Urinary Tract 3	Ectopic kidney, Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis, Multicystic kidney dyspl...	OMIM:618270
Heimler Syndrome 1	Macular dystrophy, Retinal pigment epithelial mottling	OMIM:234580
Nephrogenic Diabetes Insipidus	Polydipsia, Anorexia, Hydroureter, Hyposthenuria, Enuresis nocturna, Functional abnormality of th...	ORPHA:223
Infantile Nephropathic Cystinosis	Low-molecular-weight proteinuria, Polydipsia, Glycosuria, Hyperphosphaturia, Abnormal tubulointer...	ORPHA:411629
Cardiomyopathy, Dilated, 2J	Dilated cardiomyopathy, Secundum atrial septal defect	OMIM:620635
Holoprosencephaly 11	Polysplenia	OMIM:614226
Jalili Syndrome	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:1873
Fetal Encasement Syndrome	Increased urinary 8-oxo-7,8-dihydroguanosine level, Upper limb undergrowth, Tetralogy of Fallot, ...	OMIM:613630
Roberts-Sc Phocomelia Syndrome	Hypoplasia of the ulna, Aplasia of the ulna, Hypospadias, Long penis, Accessory spleen, Polycysti...	OMIM:268300
Fanconi Anemia, Complementation Group O	Hypoplasia of the radius, Renal cyst, Hydronephrosis, Abnormal heart morphology, Absent thumb, Sh...	OMIM:613390
Hypoplastic Left Heart Syndrome 2	Hypoplastic left heart, Mitral atresia, Ventricular septal defect, Aortic valve atresia	OMIM:614435
Polysyndactyly With Cardiac Malformation	Hepatic cysts, Atrial septal defect, Ventricular septal defect, Renal cyst	OMIM:263630
Acrocephalopolydactylous Dysplasia	Enlarged kidney, Hepatomegaly, Polysplenia, Micromelia, Hepatic fibrosis, Pancreatic fibrosis, Cy...	OMIM:200995
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy	Pulmonic stenosis, Atrial septal defect, Ventricular septal defect	OMIM:614262
Refsum Disease, Classic	Anosmia	OMIM:266500
Meckel Syndrome 14	Retrognathia, Polycystic kidney dysplasia, Micrognathia, Microretrognathia, Hepatic fibrosis, Sin...	OMIM:619879
Heart Defects, Congenital, And Other Congenital Anomalies	Perimembranous ventricular septal defect, Transposition of the great arteries, Double outlet left...	OMIM:600001
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Enlarged kidney, Ureteral duplication, Macrovesicular hepatic steatosis, Hepatomegaly, Cardiomega...	OMIM:608836
Ventricular Septal Defect 2	Perimembranous ventricular septal defect	OMIM:614431
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy	Anosmia	OMIM:601152
Congenital Pulmonary Valvar Stenosis	Atrial septal defect	ORPHA:3189
Verheij Syndrome	Retrognathia, Truncus arteriosus, Renal cyst, Renal agenesis, Renal hypoplasia, Short 5th finger,...	OMIM:615583
Cranioectodermal Dysplasia 2	Retrognathia, Hepatomegaly, Portal fibrosis, Cholangitis, Patent ductus arteriosus, Rhizomelia, P...	OMIM:613610
Kufor-Rakeb Syndrome	Hyposmia, Anosmia	OMIM:606693
Congenital Alveolar Capillary Dysplasia	Bicuspid aortic valve, Annular pancreas, Pulmonary valve atresia, Atrioventricular canal defect, ...	ORPHA:210122
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Renal tubular epithelial necrosis, Dicarboxylic aciduria, Hepatomegaly, Myoglobinuria, Polycystic...	ORPHA:228308
Transketolase Deficiency	Hepatomegaly, Increased level of ribose in urine, Patent foramen ovale, Renal cyst, Abnormal coro...	ORPHA:488618
Laurence-Moon Syndrome	Chorioretinal atrophy, Pigmentary retinopathy	OMIM:245800
Feingold Syndrome Type 2	Ventricular septal defect	ORPHA:391646
Phelan-Mcdermid Syndrome	Abnormality of the kidney, Polycystic kidney dysplasia, Vesicoureteral reflux, Micrognathia, Mala...	OMIM:606232
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Macular coloboma, Cervical myelopathy, Geographic atrophy, Cerebellar atrophy, Attenuation of ret...	OMIM:619260
East Syndrome	Renal salt wasting, Polydipsia, Enuresis, Renal sodium wasting, Salt craving, Renal magnesium was...	ORPHA:199343
Retinitis Pigmentosa And Erythrocytic Microcytosis	Bone spicule pigmentation of the retina, Photoreceptor layer loss on macular OCT, Retinal atrophy...	OMIM:616959
Cardiomyopathy, Dilated, 2H	Secundum atrial septal defect, Muscular ventricular septal defect	OMIM:620203
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive	Macrocytic dyserythropoietic anemia, Macrocytic anemia	OMIM:619789
Retinitis Pigmentosa 14	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc pallor, Retinal arteriola...	OMIM:600132
Carnitine Palmitoyltransferase Ii Deficiency	Renal tubular epithelial necrosis, Hepatomegaly, Myoglobinuria, Polycystic kidney dysplasia, Red-...	ORPHA:157
Thiamine-Responsive Megaloblastic Anemia Syndrome	Situs inversus totalis, Stroke, Cardiomyopathy, Sideroblastic anemia, Thrombocytopenia, Atrial se...	OMIM:249270
Kallmann Syndrome With Spastic Paraplegia	Anosmia	OMIM:308750
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Abnormality of retinal pigmentation	ORPHA:397951
Adams-Oliver Syndrome 6	Truncus arteriosus, Portal hypertension, Renal hypoplasia, Foot oligodactyly, Splenomegaly, Hepat...	OMIM:616589
46,Xx Sex Reversal 5	Secundum atrial septal defect, Ventricular septal defect, Hypoplastic left heart	OMIM:618901
Chromosome 8Q12.1-Q21.2 Deletion Syndrome	Hydrocephalus	OMIM:600257
Cone-Rod Dystrophy And Hearing Loss 1	Macular degeneration, Retinal atrophy	OMIM:617236
Isochromosomy Yq	Male infertility, Azoospermia	ORPHA:98798
Cystinosis, Nephropathic	Low-molecular-weight proteinuria, Polyuria, Polydipsia, Hematuria, Generalized aminoaciduria, Med...	OMIM:219800
Myoectodermal Gonadal Dysgenesis Syndrome	Short palm, Unilateral renal agenesis, Accessory spleen	OMIM:618419
Multiple Acyl-Coa Dehydrogenase Deficiency	Glutaric aciduria, Hepatomegaly, Polycystic kidney dysplasia, Hepatic periportal necrosis, Acute ...	ORPHA:26791
Methylmalonic Acidemia With Homocystinuria	Hydrocephalus, Retinopathy	ORPHA:26
Joubert Syndrome 28	Optic disc pallor, Pigmentary retinopathy	OMIM:617121
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Renal salt wasting, Polyuria, Polydipsia, Decreased glomerular filtration rate, Hyperchloriduria,...	OMIM:602522
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Retrognathia, Hepatomegaly, Hypospadias, Duplicated collecting system, Vesicoureteral reflux, Pul...	OMIM:301056
Bardet-Biedl Syndrome 3	Rod-cone dystrophy, Pigmentary retinopathy	OMIM:600151
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation	Ventricular septal defect	OMIM:209770
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities	Pulmonic stenosis, Secundum atrial septal defect	OMIM:178650
Spastic Paraplegia 11, Autosomal Recessive	Macular degeneration, Retinal degeneration	OMIM:604360
Maternal Phenylketonuria	Abnormal renal morphology, Coarctation of aorta, Abnormal heart morphology, Tetralogy of Fallot, ...	ORPHA:2209
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	Hydrocephalus, Ventriculomegaly	OMIM:615938
Megalencephaly, Autosomal Dominant	Hydrocephalus	OMIM:155350
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami...	OMIM:300946
Diamond-Blackfan Anemia 6	Macrocytic anemia, Increased mean corpuscular volume, Ventricular hypertrophy, Persistence of hem...	OMIM:612561
Ring Chromosome Y Syndrome	Male infertility, Male hypogonadism, Azoospermia, Abnormal spermatogenesis, Short stature, Obesit...	ORPHA:261529
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)	Optic atrophy, Retinal degeneration	OMIM:616896
Papilloma Of Choroid Plexus	Hydrocephalus, Choroid plexus papilloma	ORPHA:2807
Bardet-Biedl Syndrome 19	Renal insufficiency, Partial atrioventricular canal defect, Renal hypoplasia, Hydronephrosis, Pat...	OMIM:615996
Catel-Manzke Syndrome	Atrial septal defect, Ventricular septal defect	ORPHA:1388
Renpenning Syndrome	Mandibular prognathia, Hypospadias, Heterotaxy, Malar flattening	ORPHA:3242
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	Abnormality of retinal pigmentation, Heterochromia iridis, Abnormal retinal vascular morphology	ORPHA:1390
Congenital Hydrocephalus	Optic atrophy, Hydrocephalus, Colpocephaly, Ventriculomegaly, Macular hypoplasia	ORPHA:2185
Formiminoglutamic Aciduria	Atrial septal defect, Megaloblastic anemia, Anemia	ORPHA:51208
Cofs Syndrome	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:1466
Congenital Megacalycosis	Enlarged kidney, Hematuria, Dilatation of renal calices, Recurrent urinary tract infections, Neph...	ORPHA:93109
Peroxisomal Acyl-Coa Oxidase Deficiency	Optic atrophy, Rod-cone dystrophy, Pigmentary retinopathy	OMIM:264470
Joubert Syndrome 6	Elongated superior cerebellar peduncle, Cerebellar vermis hypoplasia, Dilated fourth ventricle, T...	OMIM:610688
Peroxisome Biogenesis Disorder 12A (Zellweger)	Cholelithiasis, Patent ductus arteriosus, Double outlet right ventricle, Atrial septal defect, Pr...	OMIM:614886
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii	Atrial septal defect	OMIM:113301
Ring Chromosome 14 Syndrome	Pigmentary retinopathy	OMIM:616606
Atrial Septal Defect 9	Bicuspid aortic valve, Secundum atrial septal defect	OMIM:614475
Hyperaldosteronism, Familial, Type Iii	Hypercalciuria, Polyuria, Polydipsia	OMIM:613677
Distal Renal Tubular Acidosis	Low-molecular-weight proteinuria, Polydipsia, Hypocitraturia, Decreased glomerular filtration rat...	ORPHA:18
Waardenburg-Shah Syndrome	Premature graying of hair, Aganglionic megacolon, Hypopigmentation of hair, White forelock, Abnor...	ORPHA:897
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect	Ventricular septal defect	OMIM:235750
Acquired Central Diabetes Insipidus	Polydipsia, Pollakisuria	ORPHA:95626
8P23.1 Microdeletion Syndrome	Atrioventricular canal defect, Transposition of the great arteries, Abnormal aortic morphology, H...	ORPHA:251071
1Q21.1 Microduplication Syndrome	Hydrocephalus, Attention deficit hyperactivity disorder, Hypospadias	ORPHA:250994
Congenital Myopathy 11	Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus	OMIM:619967
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
Xk Aprosencephaly Syndrome	Atrial septal defect, Ventricular septal defect	ORPHA:3469
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Decreased proportion of CD8-positive T cells, Abnormality of the tonsils, Decreased proportion of...	OMIM:611926
Retinal Dystrophy And Iris Coloboma With Or Without Cataract	Retinal atrophy	OMIM:616722
Pineocytoma	Hydrocephalus, Increased CSF protein concentration	ORPHA:251912
Iron-Refractory Iron Deficiency Anemia	Poikilocytosis, Anisocytosis, Hypochromic microcytic anemia	OMIM:206200
Feingold Syndrome 2	Ventricular septal defect	OMIM:614326
Dohle Bodies And Leukemia	Secundum atrial septal defect, Anemia, Acute myeloid leukemia, Leukocyte inclusion bodies	OMIM:223350
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2	Hydrocephalus, Ventriculomegaly	OMIM:615937
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Hydrocephalus, Occipital encephalocele, Ventriculomegaly, Retinal dysplasia	ORPHA:324416
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Polyuria, Nephrocalcinosis	OMIM:620152
Ceroid Lipofuscinosis, Neuronal, 10	Cerebellar atrophy, Retinal atrophy, Rod-cone dystrophy	OMIM:610127
Caroli Disease	Cirrhosis, Jaundice, Intrahepatic cholestasis, Cholangitis, Cholelithiasis, Hepatomegaly, Liver a...	ORPHA:53035
Enhanced S-Cone Syndrome	Vitreoretinopathy, Macular edema, Pigmentary retinopathy, Retinoschisis	OMIM:268100
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Polycystic kidney dysplasia, Short ribs, Missing ribs, Micromelia, Micrognathia, Hyperechogenic k...	OMIM:617866
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis	Elliptocytosis, Anemia of inadequate production, Hemolytic anemia	OMIM:166910
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome	Brachycephaly, Craniosynostosis, Thickened calvaria	ORPHA:178377
Narp Syndrome	Retinal arteriolar tortuosity, Retinal pigment epithelial mottling, Rod-cone dystrophy, Optic dis...	ORPHA:644
Retinitis Pigmentosa 97	Macular degeneration, Rod-cone dystrophy	OMIM:620422
Oculocutaneous Albinism Type 1B	Hypopigmentation of hair, Hypopigmentation of the skin, Abnormal optic nerve morphology, Iris hyp...	ORPHA:79434
Acute Zonal Occult Outer Retinopathy	Vitritis, Marcus Gunn pupil, Pigmentary retinopathy, Abnormal fundus fluorescein angiography, Mac...	ORPHA:284454
Retinitis Pigmentosa 72	Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Peripapillary atro...	OMIM:616469
Grange Syndrome	Ventricular septal defect, Arterial stenosis, Patent ductus arteriosus	ORPHA:79094
Azoospermia, Obstructive, With Nephrolithiasis	Obstructive azoospermia, Male infertility	OMIM:301060
Spermatogenic Failure 15	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:616950
Spherocytosis, Type 3	Spherocytosis, Hemolytic anemia	OMIM:270970
Say Syndrome	Short distal phalanx of finger, Micrognathia, Cystic renal dysplasia, Proximal renal tubular acid...	OMIM:181180
Craniofacial Conodysplasia	Hydrocephalus	ORPHA:85168
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis	Polycystic kidney dysplasia, Renal angiomyolipoma	OMIM:600273
Tricho-Retino-Dento-Digital Syndrome	Abnormality of retinal pigmentation	ORPHA:1264
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Polydipsia, Acute kidney injury, Glomerulopathy, Hypospadias, Renal insufficiency, Renal cell car...	ORPHA:93111
Oculocutaneous Albinism Type 2	Blue irides, Optic nerve misrouting, Macular hypopigmentation, Iris transillumination defect, Hyp...	ORPHA:79432
Blepharoptosis-Myopia-Ectopia Lentis Syndrome	Abnormality of retinal pigmentation	ORPHA:1259
Meckel Syndrome, Type 9	Limb undergrowth, Multicystic kidney dysplasia	OMIM:614209
Craniotelencephalic Dysplasia	Optic atrophy, Hydrocephalus, Septo-optic dysplasia, Agenesis of corpus callosum, Frontal encepha...	ORPHA:1528
Weiss-Kruszka Syndrome	Bicuspid aortic valve, Dextrotransposition of the great arteries, Ventricular septal defect, Left...	OMIM:618619
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Renal salt wasting, Polyuria, Polydipsia, Hypocalciuria, Renal potassium wasting, Enuresis, Renal...	OMIM:612780
Helix Syndrome	Polydipsia, Polyuria, Hypocalciuria, Nephrolithiasis, Renal insufficiency	OMIM:617671
Blindness-Scoliosis-Arachnodactyly Syndrome	Retinal detachment, Abnormality of retinal pigmentation	ORPHA:171844
Choroidal Atrophy-Alopecia Syndrome	Abnormality of retinal pigmentation, Patchy atrophy of the retinal pigment epithelium	ORPHA:1433
Simpson-Golabi-Behmel Syndrome	Ureteral duplication, Hydroureter, Hypospadias, Hepatomegaly, Hypoplasia of penis, Short 2nd fing...	ORPHA:373
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome	Carious teeth, Multicystic kidney dysplasia	ORPHA:3270
Spermatogenic Failure 2	Male infertility, Oligozoospermia, Non-obstructive azoospermia, Azoospermia	OMIM:108420
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Pulmonic stenosis, Perimembranous ventricular septal defect, Transposition of the great arteries	OMIM:617877
Diamond-Blackfan Anemia 12	Elevated red cell adenosine deaminase activity, Normochromic anemia, Macrocytic anemia, Reticuloc...	OMIM:615550
Nemaline Myopathy 9	Ventricular septal defect	OMIM:615731
Left Ventricular Noncompaction 1	Patent ductus arteriosus, Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricul...	OMIM:604169
Retinitis Pigmentosa 37	Cystoid macular degeneration, Rod-cone dystrophy, Pigmentary retinopathy	OMIM:611131
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4	Renal cortical cysts, Ventriculomegaly, Vesicoureteral reflux	OMIM:618548
Myopia 28, Autosomal Recessive	Retinal detachment	OMIM:619781
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome	Macular degeneration, Choroidal neovascularization	ORPHA:404451
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Hypoplasia of right ventricle, Transposition of the great arteries, Double outlet left ventricle,...	ORPHA:2255
Li-Campeau Syndrome	Atrial septal defect, Patent foramen ovale, Ventricular septal defect, Patent ductus arteriosus	OMIM:619189
Ovarian Dysgenesis 3	Delayed puberty, Female infertility, Primary amenorrhea	OMIM:614324
Coach Syndrome 1	Cirrhosis, Nephronophthisis, Hepatomegaly, Unilateral renal agenesis, Vascular dilatation, Intrah...	OMIM:216360
Alg6-Cdg	Cerebellar hypoplasia, Retinal degeneration, Rod-cone dystrophy	ORPHA:79320
Primary Non-Essential Cutis Verticis Gyrata	Atrial septal defect, Ventricular septal defect	ORPHA:357225
Wolfram Syndrome	Optic atrophy, Polydipsia, Recurrent urinary tract infections, Dysuria, Nephropathy, Abnormal aut...	ORPHA:3463
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Polydipsia, Polyuria, Nephrolithiasis	OMIM:617994
Hereditary Central Diabetes Insipidus	Polydipsia	ORPHA:30925
Chromosome 15Q14 Deletion Syndrome	Atrial septal defect, Ventricular septal defect	OMIM:616898
Orofaciodigital Syndrome I	Supernumerary tooth, Vascular dilatation, Polycystic kidney dysplasia, Short 2nd toe, Carious tee...	OMIM:311200
Alpha-Thalassemia	Anisopoikilocytosis, Hemoglobin Barts, Anemia, Reticulocytosis, Hepatosplenomegaly, Splenomegaly,...	ORPHA:846
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome	Short stature, Failure to thrive, Premature ovarian insufficiency, Female infertility	OMIM:619518
Joubert Syndrome 35	Multicystic kidney dysplasia, Recurrent urinary tract infections, Renal fibrosis, Hydronephrosis,...	OMIM:618161
Congenital Total Pulmonary Venous Return Anomaly	Infracardiac total anomalous pulmonary venous connection, Atrial situs ambiguous, Transposition o...	ORPHA:99125
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome	Renal hypoplasia/aplasia, Truncus arteriosus, Abnormal aortic morphology, Renal agenesis, Microgn...	ORPHA:2516
Autosomal Recessive Polycystic Kidney Disease	Enlarged kidney, Cholestasis, Biliary hyperplasia, Splenomegaly, Abnormal intrahepatic bile duct ...	ORPHA:731
Sporadic Fetal Brain Disruption Sequence	Plagiocephaly, Prominent occiput	ORPHA:1665
Diamond-Blackfan Anemia 4	Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Atrial septal defect, Neutropenia	OMIM:612527
Refsum Disease	Anosmia	ORPHA:773
Ciliary Dyskinesia, Primary, 51	Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress...	OMIM:620438
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities	Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Cerebellar dysplasia	OMIM:616531
Cardiomyopathy, Dilated, 2D	Muscular ventricular septal defect, Patent foramen ovale, Perinuclear cardiomyocyte vacuolization...	OMIM:619371
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome	Abnormality of retinal pigmentation	ORPHA:2521
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Dextrotransposition of the great arteries, Ventricular septal defect	OMIM:619995
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Splenic cyst, Polycystic kidney dysplasia, Pancreatic hypoplasia, Cholestasis, Rena...	OMIM:610199
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Retinal dystrophy, Cerebellar vermis hypoplasia, Hydrocephalus, Cerebellar dysplasia, Cerebellar ...	OMIM:613155
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome	Multicystic kidney dysplasia	ORPHA:2091
Anemia, Congenital Dyserythropoietic, Type Iv	Reduced hematocrit, Anemia, Anemia of inadequate production, Persistence of hemoglobin F, Reticul...	OMIM:613673
Coloboma Of Optic Nerve	Retinal detachment, Optic disc coloboma	OMIM:120430
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Short distal phalanx of finger, Truncus arteriosus, Ventricular septal defect, Unilateral renal a...	OMIM:601355
Spastic Paraplegia 15, Autosomal Recessive	Abnormal cerebellum morphology, Macular degeneration, Retinal degeneration	OMIM:270700
Retinitis Pigmentosa 75	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:617023
Birt-Hogg-Dubé Syndrome	Abnormality of retinal pigmentation	ORPHA:122
Fryns Syndrome	Ureteral duplication, Hypospadias, Renal cyst, Renal agenesis, Short distal phalanx of finger, Hy...	OMIM:229850
Mirage Syndrome	Anemia, Hypospadias, Patent ductus arteriosus, Recurrent urinary tract infections, Microphallus, ...	OMIM:617053
Vitreoretinochoroidopathy	Retinal detachment, Abnormality of chorioretinal pigmentation, Retinal arteriolar occlusion, Reti...	OMIM:193220
Retinitis Pigmentosa 66	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc pallor	OMIM:615233
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Hydrocephalus, Agenesis of corpus callosum	OMIM:166990
Ciliary Dyskinesia With Defective Radial Spokes	Nasal polyposis, Chronic rhinitis, Absent respiratory ciliary axoneme radial spokes	OMIM:242670
Bone Marrow Failure Syndrome 6	Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia	OMIM:618849
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome	Hydrocephalus	ORPHA:2703
Hadziselimovic Syndrome	Ventricular hypertrophy, Pulmonary artery atresia, Tetralogy of Fallot, Atrial septal defect, Ven...	OMIM:612946
Hypomagnesemia 3, Renal	Polydipsia, Nephrocalcinosis, Macroscopic hematuria, Stage 5 chronic kidney disease, Hyposthenuri...	OMIM:248250
Adenine Phosphoribosyltransferase Deficiency	Acute kidney injury, Recurrent urinary tract infections, Dysuria, Uric acid nephrolithiasis, Neph...	ORPHA:976
Thiamine-Responsive Megaloblastic Anemia Syndrome	Megaloblastic anemia, Stroke, Thrombocytopenia, Atrial septal defect, Ventricular septal defect	ORPHA:49827
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature	Varicose veins, Ventricular septal defect, Peripheral arterial stenosis, Patent ductus arteriosus	OMIM:126320
C Syndrome	Renal cortical cysts	OMIM:211750
Aortic Arch Interruption	Transposition of the great arteries, Patent ductus arteriosus, Aortic valve atresia, Aortopulmona...	ORPHA:2299
Pyropoikilocytosis, Hereditary	Pyropoikilocytosis, Elliptocytosis, Hemolytic anemia, Microspherocytosis	OMIM:266140
Ataxia With Vitamin E Deficiency	Abnormality of visual evoked potentials, Abnormality of retinal pigmentation	ORPHA:96
Mmep Syndrome	Ventricular septal defect	ORPHA:3434
22Q11.2 Deletion Syndrome	Abnormal aortic arch morphology, Multiple renal cysts, Splenomegaly, Tricuspid atresia, Hypospadi...	ORPHA:567
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Abnormal vena cava morphology, Short metacarpal, Renal cyst, Micrognathia, Ventricular septal def...	ORPHA:166035
Global Developmental Delay With Or Without Impaired Intellectual Development	Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus	OMIM:618330
Xeroderma Pigmentosum, Complementation Group G	Defective DNA repair after ultraviolet radiation damage	OMIM:278780
Vitreoretinopathy, Neovascular Inflammatory	Posterior retinal neovascularization, Peripheral retinal neovascularization, Retinal detachment, ...	OMIM:193235
Floating-Harbor Syndrome	Mesocardia, Short metacarpal, Nephrocalcinosis, Congenital posterior urethral valve, Epididymal c...	ORPHA:2044
Ciliary Dyskinesia, Primary, 20	Situs inversus totalis, Dextrocardia, Aortic valve stenosis, Pulmonary artery stenosis, Recurrent...	OMIM:615067
Juvenile Neuronal Ceroid Lipofuscinosis	Retinal degeneration, Optic disc pallor, Pigmentary retinopathy	ORPHA:79264
Wolf-Hirschhorn Syndrome	Hypospadias, Accessory spleen, Short hallux, Biliary tract abnormality, Micrognathia, Short thumb...	OMIM:194190
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Reduced erythrocyte adenosine triphosphate concentration, Reticulocytosis, Erythroid hyperplasia,...	OMIM:301083
Exudative Vitreoretinopathy 1	Posterior vitreous detachment, Retinal exudate, Retinal detachment, Vitreous floaters, Ectopic fo...	OMIM:133780
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Retinal Dystrophy With Or Without Macular Staphyloma	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Retinal pigment ep...	OMIM:617547
Adenylosuccinate Lyase Deficiency	Brachycephaly, Flat occiput	ORPHA:46
Coenzyme Q10 Deficiency, Primary, 7	Ventricular septal defect, Patent ductus arteriosus, Hypertrophic cardiomyopathy, Hypoplastic lef...	OMIM:616276
Caroli Syndrome	Abnormality of the kidney, Cirrhosis, Jaundice, Intrahepatic cholestasis, Cholangitis, Pancreatit...	ORPHA:480520
Wolcott-Rallison Syndrome	Jaundice, Hepatomegaly, Iron deficiency anemia, Lymphocytosis, Exocrine pancreatic insufficiency,...	ORPHA:1667
Aceruloplasminemia	Retinal degeneration	OMIM:604290
Developmental And Epileptic Encephalopathy 102	Situs inversus totalis, Atrial septal defect, Hepatomegaly	OMIM:619881
Cardiofacioneurodevelopmental Syndrome	Atrioventricular canal defect, Asplenia, Pulmonic stenosis, Micrognathia, Ventricular septal defe...	OMIM:619123
Retinitis Pigmentosa	Optic atrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Abn...	ORPHA:791
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome	Atrial septal defect	ORPHA:52056
Bilateral Frontoparietal Polymicrogyria	Cerebellar vermis hypoplasia, Hypoplasia of the pons, Abnormal cerebellum morphology, Cerebellar ...	ORPHA:101070
Coach Syndrome 2	Hydrocephalus, Hyperechogenic kidneys, Chorioretinal coloboma, Agenesis of corpus callosum	OMIM:619111
Trisomy X	Ventricular septal defect, Atrial septal defect, Renal hypoplasia/aplasia, Multicystic kidney dys...	ORPHA:3375
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Polydipsia, Nephrolithiasis	ORPHA:369929
Alpha-Methylacyl-Coa Racemase Deficiency	Rod-cone dystrophy, Pigmentary retinopathy	OMIM:614307
Hajdu-Cheney Syndrome	Hypospadias, Absent frontal sinuses, Polycystic kidney dysplasia, Renal cyst, Micrognathia, Malar...	OMIM:102500
Bietti Crystalline Corneoretinal Dystrophy	Chorioretinal atrophy, Retinal degeneration	OMIM:210370
15Q11.2 Microdeletion Syndrome	Total anomalous pulmonary venous return, Coarctation of aorta, Abnormal heart morphology, Tetralo...	ORPHA:261183
Hyperparathyroidism, Neonatal Severe	Polydipsia, Polyuria, Hypercalciuria, Hyperphosphaturia, Aminoaciduria	OMIM:239200
Hb Bart'S Hydrops Fetalis	Anemia, Splenomegaly, Abnormal hemoglobin	ORPHA:163596
Ovalocytosis, Southeast Asian	Elliptocytosis, Hemolytic anemia	OMIM:166900
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Renal salt wasting, Polyuria, Hyperechogenic kidneys, Proteinuria, Chronic kidney disease	OMIM:613845
Ciliary Dyskinesia, Primary, 42	Nasal polyposis, Recurrent sinusitis, Chronic rhinitis	OMIM:618695
Gitelman Syndrome	Polydipsia, Polyuria, Hypocalciuria, Renal potassium wasting, Enuresis, Nocturia, Salt craving, R...	OMIM:263800
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Hyposmia, Absent nares, Single naris, Anosmia	ORPHA:2250
Epidermal Nevus Syndrome	Polycystic kidney dysplasia, Aortic aneurysm	ORPHA:35125
Beaulieu-Boycott-Innes Syndrome	Unilateral renal agenesis, Recurrent urinary tract infections, Carious teeth, Micrognathia, Paten...	OMIM:613680
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Nephronophthisis, Hydrocephalus, Chronic kidney disease, Ventriculomegaly, Retinal degeneration	OMIM:615630
Non-Syndromic Bicoronal Craniosynostosis	Brachycephaly	ORPHA:35099
Ramon Syndrome	Abnormality of retinal pigmentation	ORPHA:3019
Cardiomyopathy, Dilated, 1Oo	Atrial septal defect, Dilated cardiomyopathy	OMIM:620247
Proteus Syndrome	Venous malformation, Mandibular hyperostosis, Lymphangioma, Facial hyperostosis, Splenomegaly	OMIM:176920
2,4-Dienoyl-Coa Reductase Deficiency	Optic atrophy, Increased CSF lysine concentration, Hydrocephalus, Increased CSF lactate, Colpocep...	OMIM:616034
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Abnormal aortic morphology, Ventricular septal defect, Anemia, Abnormal tricuspid valve morphology	ORPHA:3405
Aorta Coarctation	Perimembranous ventricular septal defect, Cardiomegaly, Hypoplastic aortic arch, Abnormal left ve...	ORPHA:1457
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Meningocele, Renal cyst, Chorioretinal coloboma, Ventriculomegaly, Multicystic kidney dysplasia	ORPHA:2031
Transaldolase Deficiency	Atrial septal defect, Cirrhosis, Hepatomegaly, Anemia, Patent ductus arteriosus, Pancytopenia, Pa...	OMIM:606003
Aortic Valve Disease 2	Calcification of the aorta, Aortic aneurysm, Patent foramen ovale, Aortic tortuosity, Pulmonic st...	OMIM:614823
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Atrial septal defect, Disproportionate shortening of the tibia, Polycystic kidney dysplasia, Shor...	OMIM:263520
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Atrial septal defect, Retrognathia, Unilateral renal agenesis, Micrognathia, Crossed fused renal ...	OMIM:618142
Congenital Heart Defects, Multiple Types, 7	Right aortic arch, Absence of the pulmonary valve, Pulmonary artery atresia, Double aortic arch, ...	OMIM:618780
Branchiootorenal Syndrome 1	Renal steatosis, Abnormal renal collecting system morphology, Unilateral renal agenesis, Polycyst...	OMIM:113650
Familial Cold Urticaria	Polydipsia	ORPHA:47045
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome	Undetectable visual evoked potentials, Rod-cone dystrophy, Patchy atrophy of the retinal pigment ...	ORPHA:436245
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly	Coarctation of aorta, Subvalvular aortic stenosis, Complete atrioventricular canal defect	OMIM:217085
Senior-Loken Syndrome 9	Retinal dystrophy, Macular degeneration, Obesity, Hypogonadism, Rod-cone dystrophy	OMIM:616629
Dextrocardia	Situs inversus totalis, Dextrocardia, Abnormal renal morphology, Pancreatic hypoplasia, Abnormali...	ORPHA:1666
Atypical Teratoid Rhabdoid Tumor	Hydrocephalus	ORPHA:99966
Polycystic Liver Disease 4 With Or Without Kidney Cysts	Hepatic cysts, Renal cyst	OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts	Hepatic cysts, Renal cyst	OMIM:617874
10Q22.3Q23.3 Microduplication Syndrome	Tetralogy of Fallot, Hypospadias, Microretrognathia	ORPHA:276422
14Q24.1Q24.3 Microdeletion Syndrome	Truncus arteriosus, Pulmonary artery atresia, Abnormal heart morphology, Atrial septal defect, Ve...	ORPHA:401935
Joubert Syndrome 39	Polycystic kidney dysplasia, Hypoplastic left heart	OMIM:619562
Femoral-Facial Syndrome	Aplasia/hypoplasia of the femur, Abnormal renal collecting system morphology, 11 pairs of ribs, P...	OMIM:134780
Xfe Progeroid Syndrome	Optic atrophy, Defective DNA repair after ultraviolet radiation damage, Attenuation of retinal bl...	OMIM:610965
Idiopathic Steroid-Resistant Nephrotic Syndrome	Acute kidney injury, Minimal change glomerulonephritis, Abnormal glomerular visceral epithelial c...	ORPHA:567548
Congenital Rubella Syndrome	Jaundice, Anemia, Hepatomegaly, Thrombocytopenia, Splenomegaly, Patent ductus arteriosus, Atrial ...	ORPHA:290
Familial Hyperaldosteronism Type Iii	Hypercalciuria, Polydipsia	ORPHA:251274
Juvenile Paget Disease	Optic atrophy, Abnormality of retinal pigmentation, Melanocytic nevus	ORPHA:2801
Spinocerebellar Ataxia Type 32	Male infertility, Testicular atrophy, Azoospermia	ORPHA:276183
Erythrocytosis, Familial, 3	Increased circulating hemoglobin concentration, Increased red blood cell mass, Increased hematocrit	OMIM:609820
Amelogenesis Imperfecta, Type Ig	Polyuria, Impaired renal concentrating ability, Enuresis, Nephrocalcinosis, Renal insufficiency	OMIM:204690
Juvenile Nephropathic Cystinosis	Low-molecular-weight proteinuria, Polydipsia, Renal phosphate wasting, Proximal tubulopathy, Micr...	ORPHA:411634
Intellectual Developmental Disorder, Autosomal Recessive 73	Ventricular septal defect, Patent ductus arteriosus	OMIM:619717
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Cerebellar cyst, Retinal detachment, Dandy-Walker malformation, Hydrocephalus, Hypoplasia of the ...	OMIM:613153
Simpson-Golabi-Behmel Syndrome, Type 1	Enlarged kidney, Short ribs, Cardiomyopathy, Pulmonic stenosis, Splenomegaly, Short distal phalan...	OMIM:312870
Distal Deletion 12Q	Supernumerary tooth, Annular pancreas, Ectopic kidney, Biliary atresia, Polycystic kidney dysplas...	ORPHA:96149
Retinitis Pigmentosa 82 With Or Without Situs Inversus	Rod-cone dystrophy, Macular atrophy, Optic disc pallor	OMIM:615434
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Hydrocephalus, Occipital encephalocele, Optic atrophy	ORPHA:352682
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Hepatomegaly, Recurrent urinary tract infections, Coarctation of aorta, Leukopenia, Splenomegaly,...	OMIM:620210
Hypobetalipoproteinemia, Familial, 1	Retinal degeneration, Rod-cone dystrophy	OMIM:615558
Cerebellar Ataxia-Hypogonadism Syndrome	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:1173
Joubert Syndrome 1	Retinal dysplasia, Retinal dystrophy, Hyperactivity, Renal cyst, Occipital myelomeningocele, Enla...	OMIM:213300
Axial Mesodermal Dysplasia Spectrum	Renal hypoplasia/aplasia, Renal cyst, Abnormality of the ureter, Missing ribs, Micrognathia, Hydr...	ORPHA:1834
Gracile Bone Dysplasia	Hypoplastic spleen, Micropenis, Asplenia	OMIM:602361
Cone-Rod Dystrophy 6	Bone spicule pigmentation of the retina, Chorioretinal atrophy, Cone/cone-rod dystrophy, Attenuat...	OMIM:601777
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Hypoplasia of the ulna, Hypoplasia of penis, Aplasia of the proximal phalanges of the hand, Renal...	ORPHA:2256
Hyperparathyroidism-Jaw Tumor Syndrome	Polydipsia, Hypercalciuria, Renal hamartoma, Nephrolithiasis, Renal cyst, Nephrocalcinosis, Dysph...	ORPHA:99880
Cystic Echinococcosis	Cholestatic liver disease, Jaundice, Hepatomegaly, Abnormal peritoneum morphology, Splenic cyst, ...	ORPHA:400
Mitochondrial Complex I Deficiency, Nuclear Type 11	Pigmentary retinopathy	OMIM:618234
Ventriculomegaly With Cystic Kidney Disease	Vascular dilatation, Tubular luminal dilatation, Hyperechogenic kidneys, Ventricular septal defec...	OMIM:219730
Congenital Disorder Of Glycosylation, Type Ib	Cirrhosis, Lymphangiectasis, Hepatomegaly, Proximal tubulopathy, Renal cyst, Hepatic fibrosis	OMIM:602579
Braddock-Carey Syndrome 1	Multicystic kidney dysplasia, Enamel hypoplasia, Thrombocytopenia, Ventricular septal defect, Aor...	OMIM:619980
Neurooculocardiogenitourinary Syndrome	Patent foramen ovale, Patent ductus arteriosus, Cardiomegaly, Atrial septal defect, Ventricular s...	OMIM:618652
Asplenia, Isolated Congenital	Howell-Jolly bodies, Thrombocytosis, Asplenia	OMIM:271400
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Coarctation of aorta, Mitral valve prolapse, Bicuspid aortic valve, Atrial septal defect, Ventric...	ORPHA:371428
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Retinopathy, Abnormal chorioretinal morphology, Abnormality of retinal pigmentation, Chorioretina...	ORPHA:5
Leber Congenital Amaurosis 15	Optic disc pallor, Attenuation of retinal blood vessels, Peripapillary atrophy, Retinal degenerat...	OMIM:613843
3-Methylglutaconic Aciduria, Type Iv	Cerebellar dysplasia	OMIM:250951
Parathyroid Carcinoma	Polydipsia, Hypercalciuria, Renal hamartoma, Nephrolithiasis, Renal cyst, Nephrocalcinosis, Dysph...	ORPHA:143
Beta-Thalassemia	Anemia, Thrombocytopenia, Splenomegaly, Abnormal hemoglobin, Microcytic anemia	ORPHA:848
Thakker-Donnai Syndrome	Ventricular septal defect, Transposition of the great arteries, Tetralogy of Fallot	ORPHA:1780
Rabson-Mendenhall Syndrome	Retinopathy, Polydipsia, Nephrocalcinosis, Long penis	ORPHA:769
Ververi-Brady Syndrome	Transposition of the great arteries	OMIM:617982
Mosaic Trisomy 9	Abnormal liver lobulation, Dextrocardia, Hypoplasia of penis, Abnormal heart valve morphology, As...	ORPHA:99776
Kleefstra Syndrome	Advanced eruption of teeth, Hypospadias, Hypoplasia of penis, Delayed eruption of teeth, Mandibul...	ORPHA:261494
Cystic Hamartoma Of Lung And Kidney	Multicystic kidney dysplasia	ORPHA:2111
Bresek Syndrome	Aganglionic megacolon, Hydrocephalus, Optic nerve hypoplasia, Vesicoureteral reflux, Hypoplasia o...	ORPHA:85284
Erythrocytosis, Familial, 7	Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit	OMIM:617981
Erythrocytosis, Familial, 6	Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit	OMIM:617980
Lambert Syndrome	Jaundice, Hypospadias, Intrahepatic biliary atresia, Cholestasis, Malar flattening, Ventricular s...	ORPHA:1296
Spermatogenic Failure 77	Male infertility, Oligozoospermia, Multiflagellar spermatozoa, Azoospermia	OMIM:620103
Li-Ghorbani-Weisz-Hubshman Syndrome	Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus	OMIM:618974
8P11.2 Deletion Syndrome	Anosmia, Depressed nasal bridge, Azoospermia	ORPHA:251066
Proximal Renal Tubular Acidosis	Low-molecular-weight proteinuria, Bicarbonaturia, Global proximal tubulopathy, Polydipsia, Hyperc...	ORPHA:47159
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Retinopathy, Retinal pigment epithelial mottling	OMIM:219900
8Q12 Microduplication Syndrome	Atrial septal defect, Ventricular septal defect	ORPHA:228399
Kallmann Syndrome-Heart Disease Syndrome	Partial anosmia, Total anosmia	ORPHA:2326
Ventriculomegaly With Defects Of The Radius And Kidney	Ureteral duplication, Ectopic kidney, Hydrocephalus, Renal agenesis, Lateral ventricle dilatation...	OMIM:602200
Meckel Syndrome, Type 4	Atrial septal defect, Ventricular septal defect, Renal cyst, Bile duct proliferation	OMIM:611134
Bardet-Biedl Syndrome 14	Rod-cone dystrophy, Renal insufficiency	OMIM:615991
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Unilateral renal agenesis, Polycystic kidney dysplasia, Vesicoureteral reflux, Hydronephrosis, Ab...	ORPHA:2237
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)	Macular degeneration, Cerebellar atrophy	OMIM:619780
Adenine Phosphoribosyltransferase Deficiency	Hematuria, Nephrolithiasis, Urolithiasis, Oliguria, Renal insufficiency, 2,8-dihydroxyadenine cry...	OMIM:614723
Bartter Syndrome, Type 5, Antenatal, Transient	Hypercalciuria, Polyuria, Medullary nephrocalcinosis	OMIM:300971
Marcus-Gunn Syndrome	Choanal atresia, Abnormality of the sense of smell	ORPHA:91412
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Normal pressure hydrocephalus, Ventriculomegaly	OMIM:611808
Noonan Syndrome 11	Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy	OMIM:618499
Pearson Syndrome	Cardiomyopathy, Reticulocytosis, Bone marrow hypocellularity, Abnormal heart morphology, Splenome...	ORPHA:699
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Transposition of the great arteries, Pulmonic stenosis, Myocardial fibrosis, Atrial septal defect...	OMIM:253800
Beckwith-Wiedemann Syndrome	Enlarged kidney, Renal cortical cysts, Dandy-Walker malformation, Vesicoureteral reflux, Nephroli...	OMIM:130650
Congenital Toxoplasmosis	Abnormality of retinal pigmentation	ORPHA:858
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Polycystic kidney dysplasia, Short ribs, Micromelia, Atrial septal defect, Micropenis, Aplastic c...	OMIM:616546
Mckusick-Kaufman Syndrome	Renal hypoplasia/aplasia, Patent ductus arteriosus, Glandular hypospadias, Urogenital sinus anoma...	ORPHA:2473
Familial Cutaneous Collagenoma	Atrial septal defect, Cardiomyopathy	ORPHA:53296
Fliedner-Zweier Syndrome	Unilateral renal agenesis, Hypoplastic aortic arch, Hydronephrosis, Bicuspid aortic valve, Ventri...	OMIM:620511
X-Linked Intellectual Disability, Nascimento Type	Hypospadias, Patent foramen ovale, Vesicoureteral reflux, Abnormal vena cava morphology, Peripher...	ORPHA:163956
Kaposiform Lymphangiomatosis	Enlarged kidney, Epidural hemorrhage, Anemia, Abnormality of the lymphatic system, Abnormal splee...	ORPHA:464329
Kallmann Syndrome	Hyposmia, Anosmia	ORPHA:478
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay	Patent foramen ovale	OMIM:618832
Posterior Column Ataxia With Retinitis Pigmentosa	Optic atrophy, Decreased sensory nerve conduction velocity, Bone spicule pigmentation of the reti...	OMIM:609033
Tuberous Sclerosis Complex	Abnormality of the kidney, Cardiac rhabdomyoma, Aortic aneurysm, Polycystic kidney dysplasia, Ren...	ORPHA:805
Joubert Syndrome 14	Optic atrophy, Encephalocele, Meningocele, Hydrocephalus, Dandy-Walker malformation, Renal cyst, ...	OMIM:614424
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Retrognathia, Dilatation of the bladder, Dysplastic tricuspid valve, Bicuspid aortic valve, Dilat...	OMIM:265380
Night Blindness, Congenital Stationary, Type 1B	Congenital stationary night blindness, Bone spicule pigmentation of the retina	OMIM:257270
Neonatal Adrenoleukodystrophy	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:44
Congenital Muscular Dystrophy, Fukuyama Type	Hydrocephalus, Ventriculomegaly, Optic atrophy, Retinal dysplasia	ORPHA:272
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Hydranencephaly, Multinucleated neuron, Renal cyst, Renal hypoplasia, Ureteral agenesis, Renal dy...	OMIM:236500
Holoprosencephaly	Hyposmia, Anteverted nares, Anosmia, Choanal atresia, Depressed nasal tip, Depressed nasal ridge,...	ORPHA:2162
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus	Short sperm flagella, Recurrent sinusitis, Nasal polyposis, Coiled sperm flagella	OMIM:620197
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome	Abnormality of the sense of smell	ORPHA:3201
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Hypoplasia of the ulna, Enlarged kidney, Fibular hypoplasia, Polycystic kidney dysplasia, Short r...	OMIM:613091
Nephrotic Syndrome, Type 11	Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Nephrotic syndrome, Microg...	OMIM:616730
Gómez-López-Hernández Syndrome	Brachycephaly, Turricephaly	ORPHA:1532
14Q11.2 Microdeletion Syndrome	Ventricular septal defect, Patent ductus arteriosus	ORPHA:261120
Noonan Syndrome 12	Ventricular septal defect, Thrombocytopenia, Tetralogy of Fallot, Lymphopenia	OMIM:618624
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Retinal detachment, Macular atrophy, Chorioretinal coloboma, Retinal dystrophy	OMIM:212550
Chromosome 1P36 Deletion Syndrome, Proximal	Atrial septal defect, Patent ductus arteriosus, Coronary artery fistula, Patent foramen ovale, Ve...	OMIM:619343
Joubert Syndrome 2	Nephronophthisis, Encephalocele, Retinal dystrophy, Hydrocephalus, Renal cyst, Enlarged fossa int...	OMIM:608091
Developmental And Epileptic Encephalopathy 28	Optic atrophy, Retinal degeneration	OMIM:616211
Ogden Syndrome	Left atrial enlargement, Enlarged kidney, Cardiomegaly, Bicuspid aortic valve, Perimembranous ven...	OMIM:300855
Chromosome 16Q12 Duplication Syndrome	Retinal pigment epithelial mottling, Central thinning of the outer nuclear layer of the retina, T...	OMIM:619649
Lymphedema, Cardiac Septal Defects, And Characteristic Facies	Vascular ring, Patent ductus arteriosus, Overriding aorta, Atrial septal defect, Ventricular sept...	OMIM:601927
Distal Deletion 15Q	Short finger, Abnormal aortic arch morphology, Hypospadias, Multicystic kidney dysplasia, Patent ...	ORPHA:1596
Stankiewicz-Isidor Syndrome	Retrognathia, Ureteral duplication, Hypospadias, Truncus arteriosus, Micrognathia, Absent thumb, ...	OMIM:617516
Late Infantile Neuronal Ceroid Lipofuscinosis	Abnormality of visual evoked potentials, Retinal degeneration, Abnormal amplitude of flash visual...	ORPHA:168491
Retinitis Pigmentosa 74	Rod-cone dystrophy, Pigmentary retinopathy, Optic disc pallor	OMIM:616562
Oculopharyngodistal Myopathy 3	Pigmentary retinopathy	OMIM:619473
Intellectual Developmental Disorder, X-Linked 112	Ectopic kidney, Hypospadias, Horseshoe kidney, Enuresis nocturna, Vesicoureteral reflux, Right ao...	OMIM:301111
Beemer Lethal Malformation Syndrome	Hydrocephalus	OMIM:209970
Craniosynostosis 6	Brachycephaly, Plagiocephaly, Turricephaly, Bicoronal synostosis, Parietal foramina, Right unilam...	OMIM:616602
Diaphanospondylodysostosis	Multiple renal cysts, Missing ribs	ORPHA:66637
Elliptocytosis 3	Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia, Decreased mean corpuscular volume	OMIM:617948
Renal Dysplasia	Enlarged kidney, Urinary incontinence, Renal hypoplasia/aplasia, Abnormal nephron morphology, Ure...	ORPHA:93108
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Ventricular septal defect, Abnormal cardiac septum morphology	ORPHA:83473
Masa Syndrome	Hydrocephalus, Ventriculomegaly, Agenesis of corpus callosum	OMIM:303350
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Muscular ventricular septal defect, 11 pairs of ribs, Polycystic kidney dysplasia, Patent foramen...	OMIM:210710
Cardioacrofacial Dysplasia 1	Atrioventricular canal defect, Complete atrioventricular canal defect	OMIM:619142
Down Syndrome	Atrioventricular canal defect, Partial anomalous pulmonary venous return, Patent foramen ovale, M...	OMIM:190685
Autosomal Recessive Spastic Paraplegia Type 15	Retinal flecks, Pigmentary retinopathy, Yellow/white lesions of the retina	ORPHA:100996
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Hydrocephalus	ORPHA:1008
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Hydrocephalus, Rod-cone dystrophy, Retinal coloboma	OMIM:601794
1Q44 Microdeletion Syndrome	Optic disc hypoplasia, Hydrocephalus, Vesicoureteral reflux, Agenesis of corpus callosum, Ventric...	ORPHA:238769
Parkinson Disease 8, Autosomal Dominant	Hyposmia	OMIM:607060
Congenital Muscular Dystrophy With Intellectual Disability	Facial palsy, Pigmentary retinopathy	ORPHA:370968
Non-Specific Early-Onset Epileptic Encephalopathy	Optic atrophy, Retinal degeneration	ORPHA:442835
Genitopalatocardiac Syndrome	Abnormality of the gallbladder, Hypospadias, Micrognathia, Abnormal mesentery morphology, Multicy...	ORPHA:2075
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent	Hydrocephalus	OMIM:266100
Linear Skin Defects With Multiple Congenital Anomalies 2	Atrial septal defect, Ventricular hypertrophy, Tetralogy of Fallot	OMIM:300887
Intellectual Developmental Disorder, X-Linked 1	Brachycephaly	OMIM:309530
Cardiac Valvular Dysplasia 1	Left atrial enlargement, Hypoplasia of right ventricle, Tricuspid valve prolapse, Muscular ventri...	OMIM:212093
Combined Oxidative Phosphorylation Deficiency 11	Hepatomegaly, Renal tubular acidosis, Cardiomyopathy, Renal cyst, Renal hypoplasia, Renal dysplas...	OMIM:614922
Long Qt Syndrome 16	Patent ductus arteriosus after birth at term, Perimembranous ventricular septal defect	OMIM:618782
Zika Virus Disease	Optic disc hypoplasia, Chorioretinal atrophy, Abnormal optic disc morphology, Absent foveal refle...	ORPHA:448237
Hsd10 Disease, Infantile Type	Optic atrophy, Retinal degeneration, Rod-cone dystrophy	ORPHA:391428
Pontocerebellar Hypoplasia, Type 15	Hydrocephalus, Partial agenesis of the corpus callosum, Agenesis of corpus callosum	OMIM:619302
Acrorenal-Mandibular Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Polycystic kidney dysplasia, Aplasia of the bla...	OMIM:200980
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Renal salt wasting, Polyuria, Decreased glomerular filtration rate, Hyperchloriduria, Hypernatriu...	OMIM:613090
Huntington Disease	Abnormality of the sense of smell	ORPHA:399
Corpus Callosum Agenesis-Neuronopathy Syndrome	Abnormality of retinal pigmentation	ORPHA:1496
Interstitial Nephritis, Karyomegalic	Nephronophthisis, Hematuria, Glycosuria, Proteinuria, Renal interstitial fibrosis, Stage 5 chroni...	OMIM:614817
Hydrocephalus, Autosomal Dominant	Hydrocephalus, Dandy-Walker malformation	OMIM:123155
Medullary cystic kidney disease 2	Enuresis, Renal tubular atrophy, Multiple renal cysts, Renal corticomedullary cysts, Stage 5 chro...	OMIM:603860
Cardiofaciocutaneous Syndrome 3	Pulmonic stenosis, Atrial septal defect, Ventricular septal defect, Hypertrophic cardiomyopathy	OMIM:615279
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Renal agenesis, Increased urine alpha-ketoglutarate concentration, Patent ductus arteriosus, Shor...	OMIM:220500
Diamond-Blackfan Anemia 5	Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Leukopenia, Ventricular septal defect	OMIM:612528
Whipple Disease	Hydrocephalus, Polydipsia, Anorexia	ORPHA:3452
Congenital Disorder Of Glycosylation, Type Iid	Hydrocephalus, Dandy-Walker malformation	OMIM:607091
Primary Unilateral Adrenal Hyperplasia	Polydipsia, Increased urinary potassium	ORPHA:231580
Orofaciodigital Syndrome Xvii	Retrognathia, Renal hypoplasia, Tetralogy of Fallot, Short middle phalanx of the 2nd finger, Micr...	OMIM:617926
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia	Patent foramen ovale	OMIM:617182
Diets-Jongmans Syndrome	Ventricular septal defect, Hypospadias, Heterotaxy, Interrupted inferior vena cava with azygous c...	OMIM:618846
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Retinal degeneration	ORPHA:542306
Meckel Syndrome, Type 10	Occipital encephalocele, Anencephaly, Hypospadias, Dandy-Walker malformation, Renal cyst, Dilated...	OMIM:614175
Holoprosencephaly 5	Semilobar holoprosencephaly, Alobar holoprosencephaly, Hydrocephalus, Syntelencephaly, Lobar holo...	OMIM:609637
Pseudotrisomy 13 Syndrome	Tricuspid atresia, Dextrocardia, 11 pairs of ribs, Renal agenesis, Renal hypoplasia, Coarctation ...	OMIM:264480
Cortical Dysplasia, Complex, With Other Brain Malformations 9	Hydrocephalus, Optic atrophy	OMIM:618174
Trisomy 13	Abnormality of the ureter, Hydronephrosis, Displacement of the urethral meatus, Multiple renal cy...	ORPHA:3378
Jeune Syndrome	Abnormality of retinal pigmentation	ORPHA:474
Multifocal Atrial Tachycardia	Hypertrophic cardiomyopathy, Pulmonic stenosis, Left ventricular dilatation, Atrial septal defect...	ORPHA:3282
Lissencephaly 5	Hydrocephalus, Occipital encephalocele, Optic atrophy	OMIM:615191
Peroxisome Biogenesis Disorder 11A (Zellweger)	Multiple renal cysts, Renal cyst	OMIM:614883
Pediatric-Onset Graves Disease	Polydipsia, Polyphagia, Hyperactivity	ORPHA:525731
Intellectual Developmental Disorder, X-Linked, Syndromic 12	Brachycephaly	OMIM:309545
Neuromuscular Oculoauditory Syndrome	Decreased nerve conduction velocity, Decreased amplitude of sensory action potentials, Chorioreti...	OMIM:618733
Axial Osteomalacia	Renal cyst, Polycystic liver disease	OMIM:109130
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Abnormality of retinal pigmentation	ORPHA:3085
Atelis Syndrome 1	Anemia, Thrombocytopenia, Leukopenia, Atrial septal defect, Ventricular septal defect	OMIM:620184
Walker-Warburg Syndrome	Optic atrophy, Retinal dysplasia, Hypoplasia of penis, Hydrocephalus, Dandy-Walker malformation, ...	ORPHA:899
Heme Oxygenase 1 Deficiency	Hepatomegaly, Hematuria, Lymphadenopathy, Asplenia, Nephritis, Proteinuria, Coombs-positive hemol...	OMIM:614034
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Hydrocephalus, Cerebellar hypoplasia, Retinal degeneration	OMIM:615249
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Anosmia	OMIM:619718
Scheie Syndrome	Retinal degeneration	OMIM:607016
Adult-Onset Autosomal Recessive Cerebellar Ataxia	Macular degeneration, Cerebellar atrophy	ORPHA:284289
15q26 overgrowth syndrome	Abnormality of the kidney, Polycystic kidney dysplasia, Mandibular prognathia, Vesicoureteral ref...	DECIPHER:81
Khan-Khan-Katsanis Syndrome	Ureteral duplication, Anemia, Patent foramen ovale, Vesicoureteral reflux, Bilateral superior ven...	OMIM:618460
Potocki-Shaffer Syndrome	Brachycephaly, Parietal foramina, Hypertension	ORPHA:52022
6P22 Microdeletion Syndrome	Hydrocephalus, Hydronephrosis	ORPHA:251046
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility	Situs inversus totalis, Dextrocardia, Abdominal situs inversus	OMIM:619607
Waardenburg Syndrome, Type 4C	Anosmia	OMIM:613266
Panhypophysitis	Hyposthenuria, Polydipsia, Orthostatic hypotension	ORPHA:95513
Toxic Epidermal Necrolysis	Polydipsia, Dysuria, Dysphagia, Renal insufficiency, Abnormality of the urethra	ORPHA:537
Bartter Syndrome, Type 2, Antenatal	Renal salt wasting, Polyuria, Polydipsia, Hyperchloriduria, Hyperprostaglandinuria, Renal potassi...	OMIM:241200
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Optic atrophy, Pigmentary retinopathy	OMIM:252011
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Hydrocephalus, Optic atrophy, Restless legs	ORPHA:99947
Joubert Syndrome 23	Cerebellar dysplasia	OMIM:616490
Microphthalmia, Syndromic 12	Hypoplastic left atrium, Ventricular septal defect	OMIM:615524
3-Methylglutaconic Aciduria Type 7	3-Methylglutaconic aciduria, Infection associated neutropenia, Cardiomyopathy, Renal cyst, Bone m...	ORPHA:445038
Mitochondrial Complex Iv Deficiency, Nuclear Type 15	Pigmentary retinopathy	OMIM:619059
Erdheim-Chester Disease	Polydipsia, Dysuria, Renal insufficiency, Hydronephrosis	ORPHA:35687
Coronary Arterial Fistula	Atrial septal defect, Vascular dilatation, Cardiomegaly, Bacterial endocarditis, Patent foramen o...	ORPHA:2041
Orotic Aciduria	Hypochromia, Folate-unresponsive megaloblastic anemia, Pyrimidine-responsive megaloblastic anemia...	OMIM:258900
Desmoid Tumor	Abnormality of retinal pigmentation	ORPHA:873
Klippel-Trénaunay Syndrome	Hepatomegaly, Hematuria, Abnormal tricuspid valve morphology, Venous insufficiency, Peripheral ar...	ORPHA:90308
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Bicuspid aortic valve, Atrial septal defect	OMIM:617744
Giant Cell Arteritis	Hematuria, Mediastinal lymphadenopathy, Vasculitis, Double outlet right ventricle with subpulmona...	ORPHA:397
Thoracoabdominal Syndrome	Ectopia cordis, Transposition of the great arteries, Patent ductus arteriosus	OMIM:313850
Fanconi Anemia, Complementation Group D2	Ectopic kidney, Duplicated collecting system, Hydrocephalus, Pelvic kidney, Deficient excision of...	OMIM:227646
Autism, Susceptibility To, X-Linked 2	Plagiocephaly	OMIM:300495
Yuan-Harel-Lupski Syndrome	Bicuspid aortic valve, Ventricular septal defect, Aortic root aneurysm, Double outlet right ventr...	OMIM:616652
Renal Hypoplasia, Bilateral	Decreased glomerular filtration rate, Vesicoureteral reflux, Beta 2-microglobulinuria, Renal cyst...	ORPHA:97362
Holt-Oram Syndrome	Abnormal coronary artery origin, Pulmonic stenosis, Aplasia of the 1st metacarpal, Short humerus,...	OMIM:142900
Congenital Disorder Of Glycosylation, Type Iiy	Brachycephaly	OMIM:620200
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia	Atrial septal defect	OMIM:620094
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy	Pigmentary retinopathy	ORPHA:329336
47,Xyy Syndrome	Congenital stationary night blindness, Hypospadias, Azoospermia, Hydrocephalus, Hyperactivity, Ol...	ORPHA:8
Pericardial And Diaphragmatic Defect	Mitral stenosis, Abnormal heart morphology, Tetralogy of Fallot, Patent ductus arteriosus, Bicusp...	ORPHA:2847
Pontocerebellar Hypoplasia, Type 14	Hydrocephalus, Agenesis of corpus callosum	OMIM:619301
Peroxisome Biogenesis Disorder 1B	Optic atrophy, Hyperoxaluria, Rod-cone dystrophy, Renal cyst	OMIM:601539
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Cholestatic liver disease, Jaundice, Giant cell hepatitis, Renal tubular acidosis, Intrahepatic b...	OMIM:208085
Potocki-Shaffer Syndrome	Brachycephaly, Parietal foramina, Turricephaly	OMIM:601224
Neurocutaneous Melanocytosis	Abnormality of retinal pigmentation, Chorioretinal coloboma, Melanocytic nevus, Generalized hyper...	ORPHA:2481
Trisomy 1Q	Congenital megaureter, Hydronephrosis, Microretrognathia, Patent ductus arteriosus, Ventricular s...	ORPHA:261344
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus	OMIM:613870
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Ventricular septal defect, Hypoplastic left heart	ORPHA:2476
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome	Plagiocephaly	ORPHA:459074
Ciliary Dyskinesia, Primary, 37	Female infertility	OMIM:617577
Craniofacial Dyssynostosis With Short Stature	Hypospadias, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Horseshoe kidney	OMIM:218350
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Short metacarpal, Renal cyst, Micrognathia, Short distal phalanx of finger, Ventricular septal de...	OMIM:250410
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia	Abnormality of the sense of smell, Azoospermia	OMIM:228300
Non-Distal Duplication 10Q	Brachycephaly, Frontal bossing	ORPHA:1695
Atrioventricular Septal Defect 4	Primum atrial septal defect	OMIM:614430
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal salt wasting, Decreased glomerular filtration rate, Glomerular sclerosis, Tubulointerstitia...	OMIM:174000
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Ventricular septal defect, Persistence of hemoglobin F, Patent ductus arteriosus, Atrial septal d...	OMIM:619769
Hemangioblastoma	Hydrocephalus, Neurogenic bladder, Retinal capillary hemangioma	ORPHA:252054
Microcephaly-Microcornea Syndrome, Seemanova Type	Brachycephaly	ORPHA:2528
Lessel-Kreienkamp Syndrome	Patent foramen ovale, Pulmonic stenosis, Patent ductus arteriosus, Bicuspid aortic valve, Atrial ...	OMIM:619149
Mucolipidosis Type Iv	Retinopathy, Abnormality of retinal pigmentation	ORPHA:578
Thrombocytopenia-Absent Radius Syndrome	Abnormality of the kidney, Fibular aplasia, Aplasia/Hypoplasia of the ulna, Aplasia/Hypoplasia of...	ORPHA:3320
Trichohepatoenteric Syndrome 1	Renal cortical microcysts, Hypospadias, Galactosuria	OMIM:222470
Tetraamelia Syndrome 2	Hypoplastic pulmonary veins, Amelia, Micrognathia, Microretrognathia, Ventricular septal defect, ...	OMIM:618021
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome	Tetralogy of Fallot, Hypospadias, Hypoplasia of penis	ORPHA:1381
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Hypoplasia of the ulna, Hydroureter, Hypercalciuria, Restrictive cardiomyopathy, Renal cyst, Uret...	OMIM:615398
Weill-Marchesani Syndrome	Pulmonic stenosis, Ventricular septal defect, Aortic valve stenosis	ORPHA:3449
Cat Eye Syndrome	Tricuspid atresia, Biliary atresia, Vesicoureteral reflux, Total anomalous pulmonary venous retur...	OMIM:115470
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type	Brachycephaly	OMIM:300699
Hypotonia, Infantile, With Psychomotor Retardation	Ventricular septal defect	OMIM:616816
Band Heterotopia	Hydrocephalus, Ventriculomegaly, Agenesis of corpus callosum, Lateral ventricle dilatation	OMIM:600348
Arthrogryposis, Distal, Type 5	Abnormality of retinal pigmentation, Retinal fold	OMIM:108145
Chromosome Xp11.3 Deletion Syndrome	Optic atrophy, Attenuation of retinal blood vessels, Rod-cone dystrophy, Pigmentary retinopathy	OMIM:300578
Holt-Oram Syndrome	Atrioventricular canal defect, Abnormal aortic morphology, Anomalous pulmonary venous return, Pat...	ORPHA:392
Tetraamelia-Multiple Malformations Syndrome	Optic atrophy, Hydrocephalus, Septo-optic dysplasia, Agenesis of corpus callosum, Multicystic kid...	ORPHA:3301
Superficial Siderosis	Partial anosmia, Anosmia	ORPHA:247245
Waardenburg Syndrome, Type 2E	Anosmia	OMIM:611584
Hypouricemia, Renal, 1	Acute kidney injury, Renal tubular epithelial necrosis, Uric acid nephrolithiasis, Renal cortical...	OMIM:220150
Familial Hyperaldosteronism Type I	Polydipsia	ORPHA:403
Neurodevelopmental Disorder With Seizures And Brain Abnormalities	Retinal pigment epithelial mottling	OMIM:619517
Neurodevelopmental Disorder With Dysmorphic Facies And Variable Seizures	Plagiocephaly, Frontal bossing	OMIM:619264
Neural Tube Defects, Susceptibility To	Urinary incontinence, Anencephaly, Spina bifida occulta, Hydrocephalus, Myelomeningocele	OMIM:182940
Intellectual Developmental Disorder, Autosomal Dominant 21	Atrial septal defect, Coarctation of aorta, Patent ductus arteriosus	OMIM:615502
Thauvin-Robinet-Faivre Syndrome	Ventricular septal defect, Renal cyst, Transient neutropenia, Bifid ureter, Mitral valve prolapse...	OMIM:617107
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Optic nerve dysplasia, Occipital encephalocele, Anencephaly, Retinal dysplasia, Hydrocephalus, Da...	OMIM:615287
Maternal Uniparental Disomy Of Chromosome 2	Postnatal growth retardation, Premature ovarian insufficiency, Chordee, Intrauterine growth retar...	ORPHA:96179
Spermatogenic Failure 14	Male infertility, Round spermatid arrest, Azoospermia	OMIM:615842
Classic Pantothenate Kinase-Associated Neurodegeneration	Rod-cone dystrophy, Optic disc pallor, Pigmentary retinopathy	ORPHA:216866
Smooth Muscle Dysfunction Syndrome	Dilatation of the cerebral artery, Vascular dilatation, Common carotid artery aneurysm, Brachioce...	OMIM:613834
Biemond Syndrome Type 2	Hydrocephalus, Hypospadias	ORPHA:141333
Ciliary Dyskinesia, Primary, 30	Situs inversus totalis, Ventricular septal defect, Dextrocardia	OMIM:616037
Marden-Walker Syndrome	Epispadias, Abnormality of the kidney, Situs inversus totalis, Renal hypoplasia/aplasia, Hydroure...	ORPHA:2461
Fanconi Anemia, Complementation Group B	Optic disc hypoplasia, Hydrocephalus, Abnormality of chromosome stability, Renal agenesis, Ventri...	OMIM:300514
Microgastria-Limb Reduction Defect Syndrome	Renal hypoplasia/aplasia, Hepatomegaly, Truncus arteriosus, Amelia, Aplastic clavicle, Absent han...	ORPHA:2538
X-Linked Lissencephaly With Abnormal Genitalia	Hypoplasia of penis, Micrognathia, Exocrine pancreatic insufficiency, Patent ductus arteriosus, V...	ORPHA:452
Ciliary Dyskinesia, Primary, 19	Absent inner and outer dynein arms, Rhinitis, Recurrent sinusitis, Nasal polyposis	OMIM:614935
Acitretin/Etretinate Embryopathy	Atrioventricular canal defect, Aplasia/hypoplasia involving bones of the upper limbs, Hypoplasia ...	ORPHA:40366
Fixed Subaortic Stenosis	Atrioventricular canal defect, Cardiomegaly, Patent ductus arteriosus, Bacterial endocarditis, As...	ORPHA:3092
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Hydrocephalus, Dandy-Walker malformation, Chorioretinal coloboma, Dysphagia, Ventriculomegaly	ORPHA:163961
Roberts Syndrome	Hypoplasia of the radius, Mesomelic arm shortening, Long penis, Aplasia/Hypoplasia of the thumb, ...	ORPHA:3103
Intellectual Developmental Disorder, Autosomal Recessive 79	Ventricular septal defect	OMIM:620393
Ziegler-Huang Syndrome	Persistence of hemoglobin F, Macrocytic anemia, Neutropenia	OMIM:620501
Zttk Syndrome	Optic atrophy, Polyuria, Dysplastic corpus callosum, Unilateral renal agenesis, Ventriculomegaly,...	OMIM:617140
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism	Rod-cone dystrophy, Pigmentary retinopathy	OMIM:268020
Crome Syndrome	Cerebellar dysplasia	OMIM:218900
Lethal Congenital Contracture Syndrome 2	Dilated cardiomyopathy, Hydronephrosis, Ventricular septal defect, Micrognathia	OMIM:607598
Adams-Oliver Syndrome 5	Patent foramen ovale, Right atrial enlargement, Portal vein thrombosis, Pulmonic stenosis, Spleno...	OMIM:616028
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:2518
Combined Oxidative Phosphorylation Deficiency 59	Retinal degeneration	OMIM:620646
Joubert Syndrome With Oculorenal Defect	Aganglionic megacolon, Encephalocele, Retinal dystrophy, Hydrocephalus, Nephropathy, Chorioretina...	ORPHA:2318
Bosma Arhinia Microphthalmia Syndrome	Aplasia of the nose, Anosmia, Choanal atresia	OMIM:603457
Craniosynostosis 2	Brachycephaly, Turricephaly, Unicoronal synostosis, Bicoronal synostosis, Trigonocephaly, Frontal...	OMIM:604757
Spermatogenic Failure 28	Male infertility, Non-obstructive azoospermia	OMIM:618086
Macrophthalmia, Colobomatous, With Microcornea	Macular atrophy, Chorioretinal coloboma, Optic disc coloboma	OMIM:602499
Gitelman Syndrome	Polydipsia, Urinary incontinence, Renal tubular acidosis, Renal potassium wasting, Focal segmenta...	ORPHA:358
Crouzon Syndrome With Acanthosis Nigricans	Brachycephaly, Craniosynostosis	OMIM:612247
Hyperinsulinemic Hypoglycemia, Familial, 8	Atrial septal defect	OMIM:620211
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Polycythemia, Methemoglobinemia	OMIM:250800
Aprosencephaly And Cerebellar Dysgenesis	Cerebellar dysplasia, Poorly formed metencephalon, Aprosencephaly, Retinal dysplasia	OMIM:601374
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2	Facial palsy, Pigmentary retinopathy	OMIM:613156
Meckel Syndrome, Type 3	Hydrocephalus, Occipital encephalocele, Dandy-Walker malformation, Multicystic kidney dysplasia	OMIM:607361
Multiple Sulfatase Deficiency	Hydrocephalus, Retinal degeneration, Cerebellar atrophy	OMIM:272200
Alveolar Echinococcosis	Jaundice, Anemia, Cholangitis, Liver abscess, Abnormal bladder morphology, Abnormal spleen morpho...	ORPHA:284
Paget Disease Of Bone 5, Juvenile-Onset	Retinopathy, Macular scar, Angioid streaks of the fundus, Retinal degeneration	OMIM:239000
Williams-Beuren Region Duplication Syndrome	Unilateral renal agenesis, Hydrocephalus, Hydronephrosis, Attention deficit hyperactivity disorde...	OMIM:609757
Mody	Abnormality of the kidney, Renal cyst, Retinopathy, Glycosuria, Nephropathy	ORPHA:552
Birt-Hogg-Dube Syndrome 1	Renal neoplasm, Renal cell carcinoma, Renal cyst	OMIM:135150
Noonan Syndrome 8	Patent ductus arteriosus, Hypertrophic cardiomyopathy, Pulmonic stenosis, Left ventricular hypert...	OMIM:615355
Developmental And Epileptic Encephalopathy 66	Anemia, Dextrocardia, Atrial septal defect, Ventricular septal defect, Neutropenia	OMIM:618067
Megalencephaly	Atrial septal defect	ORPHA:2477
Bardet-Biedl Syndrome 12	Rod-cone dystrophy, Hydronephrosis, Hydroureter, Cystic renal dysplasia	OMIM:615989
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Atrioventricular canal defect, Abnormal aortic valve morphology, Coarctation of aorta, Patent duc...	ORPHA:1120
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Optic atrophy, Hydrocephalus, Retinal detachment, Colpocephaly, Self-injurious behavior, Ventricu...	OMIM:619833
Fanconi Anemia, Complementation Group A	Ectopic kidney, Duplicated collecting system, Deficient excision of UV-induced pyrimidine dimers ...	OMIM:227650
Hypomandibular Faciocranial Dysostosis	Atrial septal defect, Patent ductus arteriosus	OMIM:241310
Congenital Muscular Dystrophy With Cerebellar Involvement	Optic atrophy, Occipital encephalocele, Hydrocephalus, Optic nerve hypoplasia, Retinal detachment...	ORPHA:370959
Mosaic Variegated Aneuploidy Syndrome 1	Hypospadias, Multicystic kidney dysplasia, Renal cyst, Pulmonic stenosis, Short sternum, Microgna...	OMIM:257300
Pagod Syndrome	Situs inversus totalis, Renal hypoplasia/aplasia, Abnormal aortic morphology, Pulmonary artery hy...	ORPHA:991
Optic Pathway Glioma	Hydrocephalus, Optic atrophy, Papilledema	ORPHA:2086
Nabais Sa-De Vries Syndrome, Type 2	Micrognathia, Multicystic kidney dysplasia, Hypoplastic left heart	OMIM:618829
Dandy-Walker Malformation With Postaxial Polydactyly	Hydrocephalus, Dandy-Walker malformation, Dilated fourth ventricle, Chorioretinal atrophy	OMIM:220220
Pyruvate Dehydrogenase E2 Deficiency	Retinal degeneration	ORPHA:79244
Diamond-Blackfan Anemia 7	Macrocytic anemia, Increased mean corpuscular volume, Vesicoureteral reflux, Secundum atrial sept...	OMIM:612562
Cebalid Syndrome	Brachycephaly, Plagiocephaly, Turricephaly, Platystencephaly, Dolichocephaly	OMIM:618774
Ciliary Dyskinesia, Primary, 45	Male infertility	OMIM:618801
Congenital Disorder Of Glycosylation, Type Iil	Optic atrophy, Unilateral renal agenesis, Hydrocephalus, Proximal tubulopathy, Hyperechogenic kid...	OMIM:614576
Bor Syndrome	Retrognathia, Renal hypoplasia/aplasia, Renal insufficiency, Vesicoureteral reflux, Ureteropelvic...	ORPHA:107
Congenital Bilateral Absence Of Vas Deferens	Obstructive azoospermia, Male infertility, Oligozoospermia	ORPHA:48
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Optic atrophy, Retinal dysplasia, Hydrocephalus, Dandy-Walker malformation, Dilated third ventric...	OMIM:613154
Fryns Syndrome	Abnormal aortic arch morphology, Hypospadias, Vesicoureteral reflux, Abnormal aortic morphology, ...	ORPHA:2059
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Ventricular septal defect, Hypertrophic cardiomyopathy	OMIM:616277
Angioosteohypotrophic Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Aplasia/hypoplasia involving bones of the upper...	ORPHA:75508
Developmental And Epileptic Encephalopathy 90	Atrial septal defect	OMIM:301058
Hamel Cerebro-Palato-Cardiac Syndrome	Atrial septal defect	ORPHA:93946
Isolated Right Ventricular Hypoplasia	Muscular ventricular septal defect, Patent foramen ovale, Right atrial enlargement, Cardiomegaly,...	ORPHA:439
Hydrolethalus	Abnormality of the sense of smell	ORPHA:2189
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Hypospadias, Hydrocephalus, Renal agenesis, Renal hypoplasia, Micropenis	ORPHA:171839
Neuropathy, Hereditary Sensory And Autonomic, Type Viii	Hyposmia	OMIM:616488
Hydrocephaly-Low Insertion Umbilicus Syndrome	Anomalous pulmonary venous return, Abnormality of the urinary system, Patent ductus arteriosus, T...	ORPHA:2184
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies	Brachycephaly, Craniosynostosis	OMIM:614416
Multiple Sulfatase Deficiency	Optic atrophy, Hydrocephalus, Mucopolysacchariduria, Abnormality of retinal pigmentation, Abnorma...	ORPHA:585
Aminopterin/Methotrexate Embryofetopathy	Situs inversus totalis, Aplasia/Hypoplasia of the thumb, Mandibular prognathia, Pulmonary artery ...	ORPHA:1908
Polyendocrine-Polyneuropathy Syndrome	Abnormality of the sense of smell	OMIM:616113
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Hepatomegaly, Transposition of the great arteries, Duplicated collecting system, Delayed eruption...	OMIM:280000
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Perimembranous ventricular septal defect, Coarctation of aorta, Secundum atrial septal defect, At...	OMIM:600987
Galloway-Mowat Syndrome 7	Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Nephrotic syndrome, Microg...	OMIM:618348
Fanconi Anemia, Complementation Group E	Ectopic kidney, Duplicated collecting system, Deficient excision of UV-induced pyrimidine dimers ...	OMIM:600901
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia	Ventricular septal defect	ORPHA:94066
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Optic atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc pallor	OMIM:268315
Delpire-Mcneill Syndrome	Ventricular septal defect	OMIM:619083
Short-Rib Thoracic Dysplasia 12	Short finger, Hepatomegaly, Periportal fibrosis, Patent foramen ovale, Short ribs, Hypoplastic sc...	OMIM:269860
Houge-Janssens Syndrome 2	Hydrocephalus, Ventriculomegaly, Unilateral renal agenesis, Agenesis of corpus callosum	OMIM:616362
Fanconi Anemia, Complementation Group R	Hydrocephalus, Pelvic kidney, Chromosomal breakage induced by crosslinking agents	OMIM:617244
Corpus Callosum, Partial Agenesis Of, X-Linked	Hydrocephalus, Ventriculomegaly, Aganglionic megacolon, Partial agenesis of the corpus callosum	OMIM:304100
Ebstein Malformation Of The Tricuspid Valve	Abnormal endocardium morphology, Ebstein anomaly of the tricuspid valve, Imperforate tricuspid va...	ORPHA:1880
Ciliary Dyskinesia, Primary, 36, X-Linked	Male infertility	OMIM:300991
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Anosmia	OMIM:609136
Leigh Syndrome	Optic atrophy, Pigmentary retinopathy	OMIM:256000
Axial Spondylometaphyseal Dysplasia	Optic atrophy, Retinal dystrophy, Rod-cone dystrophy, Peripheral retinal degeneration	ORPHA:168549
Micro Syndrome	Optic atrophy, Abnormality of visual evoked potentials, Abnormality of retinal pigmentation, Reti...	ORPHA:2510
Knobloch Syndrome	Occipital encephalocele, Abnormal vitreous humor morphology, Hydrocephalus, Macular degeneration,...	ORPHA:1571
Familial Peripheral Male-Limited Precocious Puberty	Male infertility, Oligozoospermia	ORPHA:3000
Edinburgh Malformation Syndrome	Hydrocephalus	OMIM:129850
Xeroderma Pigmentosum, Complementation Group F	Deficient excision of UV-induced pyrimidine dimers in DNA, Defective DNA repair after ultraviolet...	OMIM:278760
Meckel Syndrome, Type 2	Anencephaly, Encephalocele, Meningocele, Dandy-Walker malformation, Renal cyst	OMIM:603194
Congenitally Corrected Transposition Of The Great Arteries	Mesocardia, Pulmonic stenosis, Discordant atrioventricular connection, Abnormal heart morphology,...	ORPHA:216694
Temple-Baraitser Syndrome	Pulmonic stenosis, Atrial septal defect	OMIM:611816
Timothy Syndrome	Patent foramen ovale, Tetralogy of Fallot, Patent ductus arteriosus, Cardiomegaly, Ventricular se...	OMIM:601005
Aceruloplasminemia	Macular degeneration, Retinal degeneration, Abnormality of retinal pigmentation	ORPHA:48818
Joubert Syndrome 21	Optic atrophy, Occipital encephalocele, Megalopapilla, Encephalocele, Renal cyst, Retinopathy, Hy...	OMIM:615636
Congenital Bile Acid Synthesis Defect Type 2	Jaundice, Giant cell hepatitis, Hepatomegaly, Cholestasis, Renal cyst, Prolonged neonatal jaundic...	ORPHA:79303
Proximal 16P11.2 Microdeletion Syndrome	Abnormal aortic valve morphology, Dextrocardia, Micrognathia, Abnormal heart morphology, Atrial s...	ORPHA:261197
Zellweger Syndrome	Jaundice, Hepatomegaly, Hypospadias, Micrognathia, Hydronephrosis, Ventricular septal defect, Mul...	ORPHA:912
Severe Oculo-Renal-Cerebellar Syndrome	Optic atrophy, Abnormality of retinal pigmentation, Hypopigmented skin patches, Abnormal retinal ...	ORPHA:2715
Vacterl/Vater Association	Abnormality of the gallbladder, Ectopic kidney, Hypospadias, Hypoplasia of penis, Abnormal cardia...	ORPHA:887
Pseudoxanthoma Elasticum	Retinal peau d'orange, Choroidal neovascularization, Angioid streaks of the fundus, Optic disc dr...	OMIM:264800
Intellectual Developmental Disorder, Autosomal Dominant 39	Hydrocephalus, Self-mutilation, Polyphagia, Aggressive behavior	OMIM:616521
Tuberous Sclerosis 1	Cardiac rhabdomyoma, Renal cell carcinoma, Renal cyst, Dental enamel pits, Pulmonary lymphangiomy...	OMIM:191100
3-Methylglutaconic Aciduria, Type V	Atrial septal defect, Noncompaction cardiomyopathy, Microvesicular hepatic steatosis, Normochromi...	OMIM:610198
Chime Syndrome	Acute leukemia, Pulmonary valve atresia, Transposition of the great arteries, Tetralogy of Fallot...	ORPHA:3474
Developmental Delay With Or Without Dysmorphic Facies And Autism	Patent foramen ovale, Vesicoureteral reflux, Renal cyst, Microphallus, Renal hypoplasia, Coarctat...	OMIM:618454
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency	Infertility, Retinal atrophy, Delayed menarche, Oligomenorrhea, Hypogonadism	ORPHA:412057
Infantile Sialic Acid Storage Disease	Hydrocephalus, Nephrotic syndrome	OMIM:269920
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures	Plagiocephaly	OMIM:618725
Oxoglutaric Aciduria	Hydrocephalus, Abnormal urine alpha-ketoglutarate concentration, Abnormality of Krebs cycle metab...	ORPHA:31
Vici Syndrome	Optic atrophy, Abnormal macular morphology, Abnormality of retinal pigmentation, Hypopigmentation...	ORPHA:1493
Krabbe Disease	Hydrocephalus, Optic atrophy, Decreased nerve conduction velocity, Increased CSF protein concentr...	OMIM:245200
Meckel Syndrome, Type 5	Occipital encephalocele, Anencephaly, Renal cyst	OMIM:611561
Dandy-Walker Syndrome	Hydrocephalus, Dilated fourth ventricle	OMIM:220200
Joubert Syndrome 3	Retinal dystrophy, Pigmentary retinopathy	OMIM:608629
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Ventricular septal defect	OMIM:618506
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Optic atrophy, Hydrocephalus, Communicating hydrocephalus, Colpocephaly, Chorioretinal coloboma, ...	OMIM:615219
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked	Male infertility, Azoospermia	OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of	Male infertility, Azoospermia	OMIM:277180
Neurodevelopmental Disorder With Or Without Autism Or Seizures	Pulmonic stenosis, Atrial septal defect	OMIM:619239
Muscle-Eye-Brain Disease	Hydrocephalus, Optic atrophy, Holoprosencephaly, Meningocele	ORPHA:588
Chromosome 17Q12 Deletion Syndrome	Retrognathia, Unilateral renal agenesis, Upper limb undergrowth, Recurrent urinary tract infectio...	OMIM:614527
Chromosome 5Q12 Deletion Syndrome	Atrial septal defect, Patent foramen ovale, Ventricular septal defect, Patent ductus arteriosus	OMIM:615668
Diamond-Blackfan Anemia 10	Anemia, Ectopic kidney, Macrocytic anemia, Reticulocytopenia, Micrognathia, Renal duplication, St...	OMIM:613309
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Acute kidney injury, Decreased methylmalonyl-CoA mutase activity, Hemolytic-uremic syndrome, Hema...	OMIM:277400
Autism Spectrum Disorder Due To Auts2 Deficiency	Atrial septal defect, Abnormal heart morphology	ORPHA:352490
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Hypospadias, Unilateral renal agenesis, Retinal detachment, Pelvic kidney, Renal cyst, Hydronephr...	ORPHA:464311
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Carious teeth, Microretrognathia, Renal cyst, Dental malocclusion	OMIM:615560
Bartter Syndrome, Type 1, Antenatal	Renal salt wasting, Polyuria, Hyperchloriduria, Hyperprostaglandinuria, Renal potassium wasting, ...	OMIM:601678
Kleeblattschaedel	Hydrocephalus	OMIM:148800
Cerebrocostomandibular Syndrome	10 pairs of ribs, Ectopic kidney, 11 pairs of ribs, Renal cyst, Carious teeth, Micrognathia, Shor...	OMIM:117650
8Q21.11 Microdeletion Syndrome	Underdeveloped nasal alae, Wide nose, Abnormality of the sense of smell	ORPHA:284160
Papilloma Of Choroid Plexus	Hydrocephalus, Choroid plexus papilloma, Papilledema	OMIM:260500
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Abnormal B cell morphology, Patent ductus arteriosus, T lymphocytopenia, Pulmonic stenosis, Aplas...	OMIM:618223
Congenital Tricuspid Valve Dysplasia	Tricuspid valve prolapse, Hepatomegaly, Abnormal tricuspid valve annulus morphology, Patent foram...	ORPHA:555874
Spermatogenic Failure 13	Male infertility, Azoospermia	OMIM:615841
Joubert Syndrome 8	Pigmentary retinopathy, Optic disc pallor	OMIM:612291
Joubert Syndrome With Hepatic Defect	Occipital encephalocele, Renal insufficiency, Hydrocephalus, Nephropathy, Chorioretinal coloboma,...	ORPHA:1454
Tuberous Sclerosis 2	Retinal hamartoma, Subependymal nodules, Renal cell carcinoma, Renal cyst, Renal angiomyolipoma, ...	OMIM:613254
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Congenital megaureter, Hypercalciuria, Upper limb undergrowth, Restrictive cardiomyopathy, Renal ...	ORPHA:369837
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Optic atrophy, Occipital encephalocele, Retinal dysplasia, Retinal detachment, Optic nerve hypopl...	OMIM:236670
Diaphanospondylodysostosis	Enlarged kidney, Abnormal liver lobulation, Nephroblastomatosis, Missing ribs, Micrognathia, Neph...	OMIM:608022
Intellectual Developmental Disorder, X-Linked 30	Agitation, Hydrocephalus, Hyperactivity, Restlessness, Aggressive behavior	OMIM:300558
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Atrial septal defect	OMIM:615160
Meckel Syndrome, Type 6	Occipital encephalocele, Anencephaly, Hydrocephalus, Aplasia of the bladder, Renal cyst, Hepatic ...	OMIM:612284
Genitopatellar Syndrome	Delayed eruption of teeth, Short palm, Micrognathia, Hydronephrosis, Patellar aplasia, Atrial sep...	ORPHA:85201
Hemimegalencephaly	Cranial asymmetry	ORPHA:99802
Frontoocular Syndrome	Pulmonic stenosis, Atrial septal defect	OMIM:605321
Intellectual Developmental Disorder, Autosomal Dominant 70	Hydrocephalus, Optic nerve hypoplasia, Retinal telangiectasia, Retinal detachment	OMIM:620157
Pantothenate Kinase-Associated Neurodegeneration	Optic atrophy, Bull's eye maculopathy, Retinal degeneration, Retinal flecks, Rod-cone dystrophy, ...	ORPHA:157850
Isotretinoin-Like Syndrome	Abnormal aortic arch morphology, Abnormal cardiac ventricle morphology, Abnormality of the pulmon...	ORPHA:2306
Feingold Syndrome Type 1	Abnormality of the kidney, Tricuspid atresia, Interrupted aortic arch, Vesicoureteral reflux, Sho...	ORPHA:391641
Sickle Cell Anemia	Chronic hemolytic anemia, Iron deficiency anemia, Increased mean corpuscular volume, Leukocytosis...	ORPHA:232
Pallister-Hall Syndrome	Short 4th metacarpal, Hydroureter, Ectopic kidney, Renal cyst, Distal urethral duplication, Predu...	OMIM:146510
Fanconi Anemia, Complementation Group I	Hypoplasia of the radius, Abnormal renal morphology, Patent foramen ovale, Vesicoureteral reflux,...	OMIM:609053
Radio-Renal Syndrome	Retrognathia, Hypoplasia of the radius, Renal hypoplasia/aplasia, Micromelia, Renal agenesis, Sho...	ORPHA:3015
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Hematuria, Anemia, Increased mean corpuscular volume, Ventricular septal defect, Sideroblastic an...	OMIM:617021
Roifman Syndrome	Hepatomegaly, Lymphadenopathy, Noncompaction cardiomyopathy, Splenomegaly, Eosinophilia, Ventricu...	OMIM:616651
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Patent foramen ovale, Coarctation of aorta, Abnormal heart morphology, Persistent left superior v...	OMIM:618494
Thymic Neuroendocrine Tumor	Mediastinal lymphadenopathy, Pancreatic islet cell adenoma, Abnormal vena cava morphology, Promin...	ORPHA:97289
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Patent foramen ovale, Patent ductus arteriosus	OMIM:616867
Spermatogenic Failure, X-Linked, 4	Male infertility, Azoospermia	OMIM:301077
Frank-Ter Haar Syndrome	Dental malocclusion, Patent foramen ovale, Short palm, Micrognathia, Secundum atrial septal defec...	OMIM:249420
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Pancreatic cysts, Renal cyst, Nephritis, Proteinuria, Chronic kidney disease, Retinal degeneratio...	OMIM:208500
Alagille Syndrome 1	Cholestasis, Prolonged neonatal jaundice, Short distal phalanx of finger, Stage 5 chronic kidney ...	OMIM:118450
Laubry-Pezzi Syndrome	Perimembranous ventricular septal defect, Patent ductus arteriosus, Subarterial ventricular septa...	ORPHA:99094
Noonan Syndrome 9	Pulmonic stenosis, Coarctation of aorta, Ventricular septal defect, Hydroureter	OMIM:616559
20P12.3 Microdeletion Syndrome	Atrial septal defect	ORPHA:261295
Methimazole Embryofetopathy	Coarctation of aorta, Ventricular septal defect, Abnormal aortic morphology	ORPHA:1923
Autosomal Recessive Spastic Paraplegia Type 11	Retinal degeneration, Abnormality of pattern visual evoked potentials, Orthostatic hypotension	ORPHA:2822
Al-Raqad Syndrome	Atrial septal defect	OMIM:616459
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies	Brachycephaly, Plagiocephaly, Dolichocephaly, Prominent occiput	OMIM:618672
Renal Cysts And Diabetes Syndrome	Abnormality of the kidney, Multiple glomerular cysts, Hypospadias, Unilateral renal agenesis, Abn...	OMIM:137920
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Ventricular hypertrophy, Pulmonic stenosis, Coarctation of aorta, Abnormal heart morphology, Pate...	ORPHA:284169
Seizures-Scoliosis-Macrocephaly Syndrome	Atrial septal defect	ORPHA:466926
Congenital Disorder Of Glycosylation, Type Ia	Hepatomegaly, Proximal tubulopathy, Cardiomyopathy, Renal cyst, Nephrotic syndrome, Pericarditis,...	OMIM:212065
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Hydrocephalus, Ventriculomegaly, Nephroblastoma	OMIM:602501
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Pigmentary retinopathy, Abnormal sen...	ORPHA:88628
Liposarcoma	Abnormality of the kidney, Varicose veins	ORPHA:69078
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Nephroblastoma, Renal hypoplasia, Venous malformation, Splenomegaly	OMIM:612918
Pituitary Dermoid And Epidermoid Cysts	Polydipsia, Oligozoospermia	ORPHA:91351
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Retinal thinning, Retinal atrophy, Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, ...	ORPHA:85167
Aromatase Deficiency	Male infertility, Hypergonadotropic hypogonadism, Growth delay, Eunuchoid habitus, Obesity, Femal...	ORPHA:91
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia	Unilateral renal atrophy, Nephritis, Renal dysplasia, Varicose veins, Pyelonephritis	OMIM:314300
Chromosome 3Q13.31 Deletion Syndrome	Brachycephaly, Plagiocephaly, Dolichocephaly	OMIM:615433
Adams-Oliver Syndrome 2	Hydrocephalus, Optic atrophy, Lateral ventricle dilatation	OMIM:614219
Vitamin K Antagonist Embryofetopathy	Hydrocephalus, Optic atrophy, Myelomeningocele	ORPHA:1914
Histiocytosis-Lymphadenopathy Plus Syndrome	Atrial septal defect, Retrognathia, Hepatomegaly, Lymphadenopathy, Patent ductus arteriosus, Retr...	OMIM:602782
Gjc2-Related Late-Onset Primary Lymphedema	Varicose veins, Abnormal lymphatic vessel morphology, Hypoplasia of lymphatic vessels, Venous ins...	ORPHA:568051
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type	Aortic root aneurysm, Atrial septal defect, Ventricular septal defect	OMIM:301039
Even-Plus Syndrome	Atrial septal defect, Patent foramen ovale	OMIM:616854
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Brachycephaly, Plagiocephaly, Unilambdoid synostosis	OMIM:618577
Ciliary Dyskinesia, Primary, 22	Absent inner and outer dynein arms, Rhinitis, Recurrent sinusitis, Nasal polyposis	OMIM:615444
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities	Brachycephaly	OMIM:618859
Stormorken-Sjaastad-Langslet Syndrome	Anemia, Asplenia	ORPHA:3204
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Renal cyst, Coarctation of aorta, Mitral stenosis, Patent ductus arteriosus, Renal dysplasia	OMIM:617260
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Flat occiput, Lambdoidal craniosynostosis, Brachycephaly, Bicoronal synostosis	OMIM:618736
Distal 7Q11.23 Microduplication Syndrome	Hydrocephalus, Frontal encephalocele, Attention deficit hyperactivity disorder	ORPHA:261102
Achard Syndrome	Brachycephaly, Broad skull	OMIM:100700
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome	Brachycephaly, Frontal bossing, Craniosynostosis	ORPHA:314575
Bone Dysplasia, Lethal Holmgren Type	Hepatomegaly, Anemia, Hypertrophic cardiomyopathy, Patent ductus arteriosus, Atrial septal defect	ORPHA:1842
Pallister-Hall-Like Syndrome	Hydrocephalus, Occipital encephalocele, Renal dysplasia, Micropenis	OMIM:241800
Trigonocephaly With Short Stature And Developmental Delay	Ventricular septal defect	OMIM:314320
Fanconi Anemia, Complementation Group C	Ectopic kidney, Duplicated collecting system, Deficient excision of UV-induced pyrimidine dimers ...	OMIM:227645
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Decreased renal tubular phosphate excretion, Increased renal tubular phosphate reabsorption, Neph...	OMIM:211900
Robinow Syndrome	Pulmonary valve atresia, Tricuspid atresia, Mesomelic arm shortening, Multicystic kidney dysplasi...	ORPHA:97360
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Normochromic anemia, Coarctation of aorta, Thrombocytopenia, Patent ductus arteriosus, Atrial sep...	OMIM:614857
3C Syndrome	Optic atrophy, Hypospadias, Hypoplasia of penis, Hydrocephalus, Dandy-Walker malformation, Hydron...	ORPHA:7
Kaposi Sarcoma	Abnormality of the liver, Generalized lymphadenopathy, Abnormality of the spleen, Venous insuffic...	ORPHA:33276
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Abnormality of the kidney, Hydrocephalus, Dandy-Walker malformation, Enuresis, Agenesis of corpus...	ORPHA:459061
Pettigrew Syndrome	Optic atrophy, Aqueductal stenosis, Hydrocephalus, Dandy-Walker malformation, Stereotypical hand ...	OMIM:304340
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Pulmonary artery stenosis, Atrial septal defect, Ventricular septal defect	ORPHA:75389
Holoprosencephaly 13, X-Linked	Patent foramen ovale, Micrognathia, Patent ductus arteriosus, Double outlet right ventricle, Vent...	OMIM:301043
Mucolipidosis Iii Alpha/Beta	Retinopathy, Retinal degeneration	OMIM:252600
Ciliary Dyskinesia, Primary, 34	Male infertility, Immotile sperm	OMIM:617091
Vacterl Association With Hydrocephalus	Hydrocephalus, Aqueductal stenosis, Renal hypoplasia	OMIM:276950
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome	Retrognathia, Short palm, Fetal megacystis, Multicystic kidney dysplasia	ORPHA:73246
Klippel-Feil Syndrome 2, Autosomal Recessive	Ventricular septal defect	OMIM:214300
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis	Hydrocephalus	OMIM:236660
Pelvis-Shoulder Dysplasia	Hydranencephaly, Hydrocephalus, Retinal coloboma, Spina bifida, Hydronephrosis	ORPHA:2839
Abruzzo-Erickson Syndrome	Atrial septal defect	ORPHA:921
Cornelia De Lange Syndrome 1	Hypoplasia of the radius, Ectopic kidney, Hypospadias, Delayed eruption of teeth, Abnormal renal ...	OMIM:122470
Hydrocephalus, Normal-Pressure, 1	Normal pressure hydrocephalus, Urinary incontinence	OMIM:236690
Combined Oxidative Phosphorylation Deficiency 9	Patent foramen ovale, Hepatomegaly, Hepatic steatosis, Hypertrophic cardiomyopathy	OMIM:614582
Trigonocephaly-Short Stature-Developmental Delay Syndrome	Ventricular septal defect	ORPHA:3369
Lowry-Wood Syndrome	Abnormality of retinal pigmentation	ORPHA:1824
Ciliary Dyskinesia, Primary, 35	Nasal polyposis, Chronic rhinitis	OMIM:617092
17Q12 Microduplication Syndrome	Atrial septal defect	ORPHA:261272
Glutaryl-Coa Dehydrogenase Deficiency	Glutaric aciduria, Subependymal nodules, Retinal hemorrhage, Communicating hydrocephalus, Dysphag...	ORPHA:25
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome	Patent foramen ovale, Patent ductus arteriosus, Bicuspid aortic valve, Atrial septal defect, Vent...	ORPHA:329224
Hydrocephalus, Congenital, 3, With Brain Anomalies	Hydranencephaly, Hydrocephalus, Dandy-Walker malformation, Holoprosencephaly, Ventriculomegaly	OMIM:617967
Campomelia, Cumming Type	Hepatomegaly, Multicystic kidney dysplasia, Micromelia, Multiple renal cysts, Pancreatic cysts, A...	ORPHA:1318
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Ventricular septal defect, Hypoplastic left heart	ORPHA:2772
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anuria, Proteinuria, Stage 5 chronic k...	OMIM:612925
Developmental And Epileptic Encephalopathy 18	Atrial septal defect	OMIM:615476
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome	Plagiocephaly	ORPHA:521390
Charge Syndrome	Absent tibia, Pulmonic stenosis, Dysplastic tricuspid valve, Lymphopenia, Absent radius, Hypoplas...	OMIM:214800
Microcephaly-Capillary Malformation Syndrome	Atrial septal defect, Patent foramen ovale, Ventricular septal defect, Right ventricular hypertrophy	OMIM:614261
Tyshchenko Syndrome	Pulmonic stenosis, Atrial septal defect, Ventricular septal defect	OMIM:615102
Hereditary Methemoglobinemia	Methemoglobinemia	ORPHA:621
Kagami-Ogata Syndrome	Hepatomegaly, Pulmonic stenosis, Splenomegaly, Patent ductus arteriosus, Atrial septal defect, Ve...	OMIM:608149
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy	Brachycephaly	OMIM:619972
Senior-Loken Syndrome 8	Rod-cone dystrophy, Macular atrophy, Retinal dystrophy	OMIM:616307
Cerebral Visual Impairment	Optic atrophy, Hydrocephalus, Optic nerve hypoplasia, Attention deficit hyperactivity disorder, I...	ORPHA:447788
Werner Syndrome	Retinal degeneration	OMIM:277700
Isotretinoin Embryopathy-Like Syndrome	Micrognathia, Conotruncal defect	OMIM:243440
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Polydipsia, Compulsive behaviors, Abnormal autonomic nervous system physiology, Enuresis, Polypha...	ORPHA:293987
Bardet-Biedl Syndrome 1	Bone spicule pigmentation of the retina, Aganglionic megacolon, Retinal dystrophy, Hyperautofluor...	OMIM:209900
Mckusick-Kaufman Syndrome	Polycystic kidney dysplasia, Hydronephrosis, Hydroureter, Vesicovaginal fistula	OMIM:236700
Ulbright-Hodes Syndrome	Hypoplasia of the radius, Fibular aplasia, Polycystic kidney dysplasia, Short ribs, Short metacar...	ORPHA:3404
Greig Cephalopolysyndactyly Syndrome	Hydrocephalus, Ventriculomegaly, Hypospadias, Agenesis of corpus callosum	OMIM:175700
Woods Syndrome	Ventricular septal defect	OMIM:615236
Coffin-Siris Syndrome 5	Atrial septal defect	OMIM:616938
Atelosteogenesis Type I	Multiple renal cysts, Retinal dysplasia	ORPHA:1190
Double Outlet Left Ventricle	Pulmonary valve atresia, Double outlet left ventricle, Tricuspid atresia, Bicuspid pulmonary valv...	ORPHA:3427
Beta-Mercaptolactate Cysteine Disulfiduria	Atrial septal defect	ORPHA:1035
Mulibrey Nanism	Pigmentary retinopathy	OMIM:253250
Kleefstra Syndrome 2	Plagiocephaly	OMIM:617768
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Hydrocephalus, Optic atrophy	ORPHA:93262
Kawasaki Disease	Myocarditis, Cervical lymphadenopathy, Jaundice, Vasculitis, Ascending tubular aorta aneurysm, Ab...	ORPHA:2331
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Fibular hypoplasia, Rhizomelia, Short ribs, Renal cyst, Renal hypoplasia, Hypoplastic facial bone...	OMIM:616300
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Atrial septal defect, Ventricular septal defect, Vascular ring	OMIM:603387
Ebstein Anomaly	Atrial septal defect, Ebstein anomaly of the tricuspid valve	OMIM:224700
Paternal Uniparental Disomy Of Chromosome 5	Secundum atrial septal defect	ORPHA:96190
Congenital Disorder Of Glycosylation, Type Iiaa	Hepatomegaly, Unilateral renal agenesis, Cholestasis, Biliary cirrhosis, Hydronephrosis, Patent d...	OMIM:620454
2P15P16.1 Microdeletion Syndrome	Optic atrophy, Optic nerve hypoplasia, Facial palsy, Hydronephrosis, Dysphagia, Attention deficit...	ORPHA:261349
De Sanctis-Cacchione Syndrome	Optic atrophy, Ventriculomegaly, Decreased CSF 5-hydroxyindolacetic acid concentration, Defective...	OMIM:278800
Bardet-Biedl Syndrome 8	Brachycephaly	OMIM:615985
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Urinary incontinence, Eruption failure, Aplasia of the 1st metacarpal, Short palm, Micrognathia, ...	ORPHA:476126
Pai Syndrome	Midline defect of the nose, Depressed nasal bridge, Nasal polyposis	ORPHA:1993
Immunodeficiency 13	Recurrent sinusitis, Nasal polyposis, Recurrent upper respiratory tract infections	OMIM:615518
Peroxisome Biogenesis Disorder 4A (Zellweger)	Hepatomegaly, Renal cyst	OMIM:614862
Microscopic Polyangiitis	Glomerulopathy, Hematuria, Abnormal retinal vascular morphology, Oliguria, Renal insufficiency	ORPHA:727
Hemihyperplasia-Multiple Lipomatosis Syndrome	Enlarged kidney, Abnormality of the lymphatic system, Abnormal venous morphology, Abnormal cerebr...	ORPHA:276280
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation	Brachycephaly	ORPHA:320385
Pontocerebellar Hypoplasia, Type 17	Secundum atrial septal defect, Ventricular septal defect, Patent ductus arteriosus	OMIM:619909
Diarrhea 10, Protein-Losing Enteropathy Type	Renal dysplasia, Polyuria	OMIM:618183
Parkes Weber Syndrome	Spinal arteriovenous malformation, Arteriovenous malformation, Venous malformation, Vascular dila...	ORPHA:90307
Complete Atrioventricular Septal Defect	Displacement of the papillary muscles, Hepatomegaly, Primum atrial septal defect, Right ventricul...	ORPHA:1329
Mucopolysaccharidosis, Type Ii	Hydrocephalus, Dermatan sulfate excretion in urine, Papilledema, Abnormality of retinal pigmentat...	OMIM:309900
Lipodystrophy, Familial Partial, Type 7	Polyuria, Dysphagia, Orthostatic hypotension, Pigmentary retinopathy	OMIM:606721
Congenital Sialidosis Type 2	Optic atrophy, Abnormality of the kidney, Yellow/white lesions of the retina, Hydrocephalus, Hypo...	ORPHA:93400
Biemond Syndrome Ii	Hydrocephalus	OMIM:210350
2Q37 Microdeletion Syndrome	Abnormal aortic morphology, Short metacarpal, Short palm, Nephroblastoma, Multicystic kidney dysp...	ORPHA:1001
Ciliary Dyskinesia, Primary, 15	Nasal polyposis, Abnormal axonemal organization of respiratory motile cilia	OMIM:613808
Classic Galactosemia	Delayed puberty, Premature ovarian insufficiency, Male infertility, Secondary amenorrhea, Oligome...	ORPHA:79239
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Enlarged kidney, Abnormal right ventricle morphology, Chronic neutropenia, Ventricular septal def...	ORPHA:500095
Tetrasomy 15Q26	Hydrocephalus, Dandy-Walker malformation, Hydronephrosis, Horseshoe kidney	OMIM:614846
Craniofaciofrontodigital Syndrome	Anomalous branches of internal carotid artery, Dilatation of the cerebral artery, Cardiomegaly, P...	ORPHA:363705
Congenital Gerbode Defect	Perimembranous ventricular septal defect, Vascular dilatation, Abnormal tricuspid valve leaflet m...	ORPHA:99095
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Fibular hypoplasia, Short ribs, Micrognathia, Natal tooth, Tetralogy of Fallot, Absent gallbladde...	OMIM:617925
Summitt Syndrome	Plagiocephaly, Craniosynostosis	ORPHA:3210
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 1	Plagiocephaly	OMIM:607313
Joubert Syndrome With Renal Defect	Aganglionic megacolon, Encephalocele, Hydrocephalus, Nephropathy, Agenesis of corpus callosum, Re...	ORPHA:220497
Cardiomyopathy, Familial Hypertrophic, 11	Atrial septal defect, Subaortic ventricular septal bulge, Hypertrophic cardiomyopathy, Left ventr...	OMIM:612098
Alexander Disease	Hydrocephalus, Increased CSF protein concentration	OMIM:203450
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6	Patent foramen ovale	OMIM:615156
Cutis Marmorata Telangiectatica Congenita	Arteriovenous malformation, Short lower limbs, Micrognathia, Displacement of the urethral meatus,...	ORPHA:1556
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay	Brachycephaly	OMIM:615031
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Brachycephaly, Congestive heart failure, Hypertrophic cardiomyopathy	ORPHA:70472
Methylmalonic Aciduria And Homocystinuria, Cblx Type	Brachycephaly	OMIM:309541
Peutz-Jeghers Syndrome	Abnormality of the gallbladder, Anemia, Renal cell carcinoma, Enlarged polycystic ovaries, Abnorm...	ORPHA:2869
Ciliary Dyskinesia, Primary, 2	Absent inner and outer dynein arms, Nasal polyposis	OMIM:606763
Potocki-Lupski Syndrome	Atrial septal defect, Patent foramen ovale	OMIM:610883
White Forelock With Malformations	Atrial septal defect	ORPHA:2475
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Retinal pigment epithelial mottling	OMIM:617102
Holoprosencephaly-Craniosynostosis Syndrome	Abnormality of retinal pigmentation	ORPHA:2163
Methemoglobinemia And Ambiguous Genitalia	Methemoglobinemia	OMIM:250790
Fanconi Anemia, Complementation Group N	Aplastic anemia, Hypoplasia of the radius, Unilateral renal agenesis, Ectopic kidney, Acute myelo...	OMIM:610832
Muenke Syndrome	Coronal craniosynostosis, Cloverleaf skull, Brachycephaly, Plagiocephaly	OMIM:602849
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Cholestasis, Hepatic steatosis, Transposition of the great arteries, Muscular ventricular septal ...	OMIM:619503
Thanatophoric Dysplasia Type 2	Abnormality of the kidney, Encephalocele, Hydrocephalus, Holoprosencephaly, Ventriculomegaly	ORPHA:93274
Trichothiodystrophy 6, Nonphotosensitive	Increased HbA2 hemoglobin, Decreased mean corpuscular volume	OMIM:616943
Pseudoxanthoma Elasticum, Forme Fruste	Macular degeneration, Angioid streaks of the fundus, Retinal hemorrhage	OMIM:177850
Clark-Baraitser Syndrome	Brachycephaly, Dolichocephaly	OMIM:617752
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Pulmonic stenosis, Leukopenia, Splenomegaly, Lymphopenia, Neutropenia, Secundum atrial septal def...	OMIM:612541
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Patent foramen ovale, Abnormal heart morphology, Patent ductus arteriosus, Bicuspid aortic valve,...	ORPHA:500159
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa	Nasal polyposis	OMIM:155145
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome	Lymphangioma, Arteriovenous malformation, Venous insufficiency	ORPHA:137608
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 dysplasia, Hydrocephalus, Optic nerve hypoplasia, Dandy-Walker malformatio...	OMIM:614643
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Ureteral duplication, Short ribs, Cholestasis, Stage 5 chronic kidney disease, Acute kidney injur...	OMIM:266920
Hajdu-Cheney Syndrome	Hepatomegaly, Hypospadias, Partial absence of toe, Absent frontal sinuses, Aortic valve stenosis,...	ORPHA:955
Isolated Succinate-Coq Reductase Deficiency	Pigmentary retinopathy	ORPHA:3208
Proteus-Like Syndrome	Venous insufficiency, Mandibular prognathia, Splenomegaly, Thymus hyperplasia, Polycystic ovaries	ORPHA:2969
Sweeney-Cox Syndrome	Short clavicles, Patent foramen ovale, Asplenia, Micrognathia, Patent ductus arteriosus, Short di...	OMIM:617746
Viss Syndrome	Retrognathia, Pulmonary artery aneurysm, Iliac artery aneurysm, Arterial tortuosity, Tortuous cer...	OMIM:619472
Acro-Renal-Mandibular Syndrome	Abnormality of the sense of smell	ORPHA:958
Cleft Palate-Congenital Heart Defect-Intellectual Disability Syndrome Due To 15Q14 Microdeletion	Atrial septal defect, Ventricular septal defect	ORPHA:261190
Schuurs-Hoeijmakers Syndrome	Bicuspid aortic valve, Patent foramen ovale, Patent ductus arteriosus, Abnormal cardiac septum mo...	OMIM:615009
Suleiman-El-Hattab Syndrome	Atrial septal defect, Patent foramen ovale, Ventricular septal defect	OMIM:618950
Kleefstra Syndrome 1	Hypospadias, Abnormal renal morphology, Mandibular prognathia, Persistence of primary teeth, Nata...	OMIM:610253
Trichothiodystrophy	Defective DNA repair after ultraviolet radiation damage, Macular degeneration, Ventriculomegaly, ...	ORPHA:33364
Pierpont Syndrome	Brachycephaly	ORPHA:487825
Snijders Blok-Campeau Syndrome	Pulmonic stenosis, Atrial septal defect, Perimembranous ventricular septal defect	OMIM:618205
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Trigonocephaly, Craniosynostosis, Plagiocephaly, Decreased calvarial ossification	OMIM:618265
Acalvaria	Hydrocephalus, Holoprosencephaly, Spina bifida	ORPHA:945
Duplication Of Urethra	Rectourethral fistula, Epispadias, Urinary incontinence, Hypospadias, Recurrent urinary tract inf...	ORPHA:237
Campomelic Dysplasia	Depressed nasal bridge, Abnormality of the sense of smell	ORPHA:140
Cornelia De Lange Syndrome 2	Brachycephaly, Hypertrophic cardiomyopathy	OMIM:300590
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anuria, Proteinuria	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anuria, Proteinuria	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anuria, Proteinuria	OMIM:612926
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties	Pericardial effusion, Atrial septal defect, Aortic aneurysm, Multiple muscular ventricular septal...	OMIM:620070
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Patent foramen ovale, Restrictive cardiomyopathy	ORPHA:88630
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Atrial septal defect	OMIM:619356
Immunodeficiency 110 With Lymphoproliferation	Autoimmune hemolytic anemia, Patent foramen ovale, Secundum atrial septal defect, Lymphopenia, Ne...	OMIM:614868
Hypermethioninemia Due To Adenosine Kinase Deficiency	Portal fibrosis, Cholestasis, Pulmonic stenosis, Coarctation of aorta, Secundum atrial septal def...	OMIM:614300
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Retinal thinning, Abnormality of macular pigmentation, Retinal atrophy, Cone/cone-rod dystrophy, ...	OMIM:608940
Developmental And Epileptic Encephalopathy 49	Optic atrophy, Dysplastic corpus callosum, Hydrocephalus, Dandy-Walker malformation, Hyperactivit...	OMIM:617281
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome	Renal hypoplasia/aplasia, Hydroureter, Urogenital sinus anomaly, Hydronephrosis, Displacement of ...	ORPHA:2973
Microphthalmia, Syndromic 2	Supernumerary tooth, Hypospadias, Hypoplastic aortic arch, Dextrocardia, Delayed eruption of teet...	OMIM:300166
Crouzon Syndrome	Hydrocephalus, Optic atrophy	ORPHA:207
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities	Brachycephaly, Plagiocephaly	OMIM:618603
Dyrk1A-Related Intellectual Disability Syndrome	Hypospadias, Unilateral renal agenesis, Hyperactivity, Pelvic kidney, Renal cyst, Hydronephrosis,...	ORPHA:464306
Hydrocephalus-Obesity-Hypogonadism Syndrome	Hydrocephalus, Azoospermia	ORPHA:2183
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Atrial septal defect, Patent foramen ovale, Ventricular septal defect, Patent ductus arteriosus	OMIM:618870
Greig Cephalopolysyndactyly Syndrome	Hydrocephalus, Agenesis of corpus callosum	ORPHA:380
Smith-Lemli-Opitz Syndrome	Cholestatic liver disease, Splenomegaly, Hepatic steatosis, Hypospadias, Micromelia, Patent ductu...	OMIM:270400
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anuria, Proteinuria	OMIM:612924
Interatrial Communication	Atrial septal defect, Sinus venosus atrial septal defect, Primum atrial septal defect, Stroke, Se...	ORPHA:1478
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Perimembranous ventricular septal defect, Transposition of the great arteries, Muscular ventricul...	OMIM:612474
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Optic atrophy, Cerebellar cyst, Retinal dysplasia, Hydrocephalus, Retinal atrophy, Cerebellar dys...	OMIM:253280
Cardiac, Facial, And Digital Anomalies With Developmental Delay	Pulmonary artery atresia, Ventricular septal defect, Supravalvar pulmonary stenosis, Aortic valve...	OMIM:618164
Hydrolethalus Syndrome 2	Hydrocephalus, Ventriculomegaly, Anencephaly, Agenesis of corpus callosum	OMIM:614120
Absence Of The Pulmonary Artery	Patent foramen ovale, Truncus arteriosus, Abnormal inferior vena cava morphology, Right aortic ar...	ORPHA:980
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency	Abnormal cerebral vascular morphology, Venous insufficiency	ORPHA:745
Craniofrontonasal Dysplasia	Brachycephaly, Craniosynostosis, Frontal bossing, Plagiocephaly	ORPHA:1520
Rhombencephalosynapsis	Aganglionic megacolon, Hydrocephalus, Abnormal renal morphology, Septo-optic dysplasia, Ventricul...	ORPHA:59315
Frontal Encephalocele	Hydrocephalus, Encephalocele, Spina bifida	ORPHA:1931
Charge Syndrome	Anosmia, Depressed nasal bridge, Choanal atresia	ORPHA:138
Plasminogen Deficiency, Type I	Hydrocephalus, Dandy-Walker malformation, Nephrolithiasis, Nephritis, Ventriculomegaly	OMIM:217090
Skraban-Deardorff Syndrome	Right aortic arch, Ventricular septal defect	OMIM:617616
Omphalocele-Cleft Palate Syndrome, Lethal	Hydrocephalus	OMIM:258320
D-Bifunctional Protein Deficiency	Retrognathia, Hepatomegaly, Cholestasis, Renal cyst, Bile duct proliferation, Micrognathia, Splen...	OMIM:261515
Pierpont Syndrome	Brachycephaly	OMIM:602342
Beta-Thalassemia Intermedia	Anemia of inadequate production, Leukocytosis, Persistence of hemoglobin F, Hepatosplenomegaly, S...	ORPHA:231222
Intellectual Developmental Disorder, Autosomal Dominant 67	Posterior plagiocephaly	OMIM:619927
Lymphangioleiomyomatosis	Optic atrophy, Retinal hamartoma, Renal neoplasm, Hematuria, Hydrocephalus, Multiple renal cysts,...	ORPHA:538
Zechi-Ceide Syndrome	Atrial septal defect, Abnormal heart morphology	ORPHA:217017
Craniosynostosis, Herrmann-Opitz Type	Brachycephaly, Craniosynostosis, Turricephaly	ORPHA:2145
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Retinal pigment epithelial mottling	OMIM:614105
Czeizel-Losonci Syndrome	Spina bifida occulta, Congenital megaureter, Hydrocephalus, Myelomeningocele, Spina bifida, Urete...	ORPHA:2437
Aicardi-Goutieres Syndrome 4	Hydrocephalus, Ventriculomegaly, CSF lymphocytic pleiocytosis	OMIM:610333
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Obsessive-compulsive trait, Abnormal temper tantrums, Hydrocephalus, Dilated third ventricle, Imp...	ORPHA:500055
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis	Hydrocephalus	ORPHA:1516
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome	Pulmonic stenosis, Cranial asymmetry	ORPHA:137634
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Cholelithiasis, Normochromic anemia, Hypertrophic cardiomyopathy, Pericardial effusion, Thrombocy...	OMIM:618775
Long-Olsen-Distelmaier Syndrome	Cardiomegaly, Dilated cardiomyopathy, Secundum atrial septal defect, Ventricular septal defect	OMIM:620609
Joubert Syndrome With Ocular Defect	Aganglionic megacolon, Retinal dystrophy, Encephalocele, Hydrocephalus, Retinal coloboma, Agenesi...	ORPHA:220493
Sturge-Weber Syndrome	Optic atrophy, Hydrocephalus, Retinal detachment, Dysphagia, Abnormal retinal vascular morphology...	ORPHA:3205
Thrombocytopenia-Absent Radius Syndrome	Ureteral duplication, Bilateral radial aplasia, Absent thumb, Aplasia/hypoplasia of the humerus, ...	OMIM:274000
Congenital Heart Block	Pericardial effusion, Patent foramen ovale, Patent ductus arteriosus, Endocardial fibroelastosis	ORPHA:60041
8Q24.3 Microdeletion Syndrome	Abnormal heart morphology, Short 5th finger, Abnormality of the kidney, Pelvic kidney, Truncus ar...	ORPHA:508488
Radial Aplasia, X-Linked	Hydrocephalus, Penile hypospadias	OMIM:312190
15Q Overgrowth Syndrome	Congenital stationary night blindness, Hydrocephalus, Dandy-Walker malformation, Abnormal renal m...	ORPHA:314585
Neurogenic Arthrogryposis Multiplex Congenita	Plagiocephaly, Scaphocephaly	ORPHA:1143
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Annular pancreas, Hypospadias, Patent foramen ovale, Vesicoureteral reflux, Renal cyst, Micrognat...	OMIM:616975
X-Linked Intellectual Disability, Sutherland-Haan Type	Brachycephaly	ORPHA:93950
Sifrim-Hitz-Weiss Syndrome	Coarctation of aorta, Tetralogy of Fallot, Patent ductus arteriosus, Atrial septal defect, Ventri...	OMIM:617159
Mannosidosis, Alpha B, Lysosomal	Retinal degeneration, Cerebellar atrophy	OMIM:248500
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Nephrocalcinosis, Rod-cone dystrophy, Aminoaciduria, Communicating hydrocephalus	OMIM:616084
Focal Dermal Hypoplasia	Renal hypoplasia/aplasia, Abnormal dental enamel morphology, Short clavicles, Short ribs, Hydrone...	ORPHA:2092
Xeroderma Pigmentosum, Complementation Group B	Optic atrophy, Decreased nerve conduction velocity, Freckling, Pigmentary retinopathy	OMIM:610651
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Optic atrophy, Hydrocephalus, Dandy-Walker malformation, Inappropriate laughter, Agenesis of corp...	OMIM:618476
Neurodevelopmental Disorder With Language Delay And Seizures	Ventricular septal defect	OMIM:619908
Lambotte Syndrome	Ventricular septal defect	OMIM:245552
Prune1-Related Neurological Syndrome	Plagiocephaly, Hypertrophic cardiomyopathy	ORPHA:544469
Von Hippel-Lindau Disease	Elevated urinary catecholamine level, Retinal detachment, Retinal capillary hemangioma, Renal cel...	ORPHA:892
Alexander Disease Type I	Hydrocephalus, Dysphagia	ORPHA:363717
Chromosome 6Pter-P24 Deletion Syndrome	Patent foramen ovale, Tetralogy of Fallot, Patent ductus arteriosus, Atrial septal defect, Ventri...	OMIM:612582
Albers-Schönberg Osteopetrosis	Hydrocephalus, Optic atrophy, Facial palsy	ORPHA:53
Nephronophthisis-Like Nephropathy 1	Nephronophthisis, Chronic pancreatitis, Tubular basement membrane disintegration, Renal tubular a...	OMIM:613159
Histiocytoid Cardiomyopathy	Optic atrophy, Hydrocephalus, Renal cyst, Agenesis of corpus callosum, Polycystic ovaries	ORPHA:137675
Emanuel Syndrome	Unilateral renal agenesis, Hydrocephalus, Dandy-Walker malformation, Renal hypoplasia, Dysphagia,...	ORPHA:96170
Rhizomelic Limb Shortening With Dysmorphic Features	Patent foramen ovale	OMIM:618821
Pontocerebellar Hypoplasia, Type 7	Hydrocephalus, Ventriculomegaly, Optic atrophy, Micropenis	OMIM:614969
Chiari Malformation Type Ii	Cervical myelopathy, Hydrocephalus, Myelomeningocele, Spina bifida, Dysphagia, Agenesis of corpus...	OMIM:207950
Houge-Janssens Syndrome 3	Atrial septal defect, Muscular ventricular septal defect	OMIM:618354
Wolfram Syndrome 1	Optic atrophy, Pigmentary retinopathy	OMIM:222300
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Rod-cone dystrophy, Pigmentary retinopathy	ORPHA:2235
Young-Onset Parkinson Disease	Hyposmia	ORPHA:2828
Craniofacioskeletal Syndrome	Hypospadias, Interrupted aortic arch, Hypoplastic frontal sinuses, Short palm, Micrognathia, Hydr...	OMIM:300712
Ellis Van Creveld Syndrome	Epispadias, Abnormality of the kidney, Acute leukemia, Renal hypoplasia/aplasia, Hydroureter, Hyp...	ORPHA:289
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities	Optic atrophy, Optic disc pallor, Pigmentary retinopathy	OMIM:617282
Filippi Syndrome	Ventricular septal defect	OMIM:272440
Coffin-Siris Syndrome 6	Atrial septal defect	OMIM:617808
Cerebellar, Ocular, Craniofacial, And Genital Syndrome	Hypoplasia of the pons, Dandy-Walker malformation, Retinal degeneration, Cerebellar hypoplasia	OMIM:618479
Bare Lymphocyte Syndrome, Type I	Nasal polyposis	OMIM:604571
Lowry-Wood Syndrome	Pigmentary retinopathy	OMIM:226960
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Atrial septal defect, Patent foramen ovale, Hyposegmentation of neutrophil nuclei	OMIM:620075
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome	Atrial septal defect	ORPHA:500533
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome	Brachycephaly	ORPHA:352530
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy	Atrial septal defect	OMIM:611087
Congenital Bile Acid Synthesis Defect Type 4	Pigmentary retinopathy	ORPHA:79095
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Unilateral renal agenesis, Hydrocephalus, Optic nerve hypoplasia, Hyperactivity, Agenesis of corp...	ORPHA:457284
Blepharophimosis, Ptosis, And Epicanthus Inversus	Amenorrhea, Premature ovarian insufficiency, Female infertility, Irregular menstruation	OMIM:110100
Severe Generalized Junctional Epidermolysis Bullosa	Renal tubular epithelial necrosis, Hydroureter, Anemia, Duplicated collecting system, Abnormality...	ORPHA:79404
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus	ORPHA:2519
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Ventricular septal defect	ORPHA:93267
Cohen Syndrome	Optic atrophy, Bull's eye maculopathy, Bone spicule pigmentation of the retina, Chorioretinal dys...	OMIM:216550
Developmental And Epileptic Encephalopathy 65	Plagiocephaly	OMIM:618008
Pelger-Huet Anomaly	Giant platelets, Ventricular septal defect, Hyposegmentation of neutrophil nuclei, Thrombocytopen...	OMIM:169400
Intellectual Developmental Disorder, Autosomal Dominant 26	Brachycephaly	OMIM:615834
Harrod Syndrome	Dental malocclusion, Multicystic kidney dysplasia, Hypospadias	ORPHA:2115
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Cholelithiasis, Chronic active hepatitis, Asplenia, Enamel hypoplasia, Nephrocalcinosis	OMIM:240300
Pentasomy X	Plagiocephaly	ORPHA:11
Autosomal Recessive Robinow Syndrome	Supernumerary tooth, Abnormal tricuspid valve morphology, Hypoplasia of penis, Abnormal aortic mo...	ORPHA:1507
Lujan-Fryns Syndrome	Atrial septal defect	ORPHA:776
16P12.1P12.3 Triplication Syndrome	Abnormal intrahepatic bile duct morphology, Atrial septal defect, Abnormal heart morphology, Abno...	ORPHA:485405
Thanatophoric Dysplasia	Atrial septal defect, Patent ductus arteriosus	ORPHA:2655
Congenital Heart Defects And Ectodermal Dysplasia	Brachycephaly, Frontal bossing	OMIM:617364
Penile Agenesis	Atrial septal defect, Hydroureter, Abnormality of the bladder, Bilateral renal agenesis, Absent p...	ORPHA:49
Ehlers-Danlos Syndrome, Musculocontractural Type, 2	Brachycephaly, Frontal bossing, Mitral regurgitation	OMIM:615539
Chromosome 3Pter-P25 Deletion Syndrome	Trigonocephaly, Flat occiput, Dolichocephaly, Brachycephaly	OMIM:613792
Genetic Recurrent Myoglobinuria	Acute kidney injury, Exercise-induced myoglobinuria, Recurrent myoglobinuria, Dark urine, Oliguri...	ORPHA:99845
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Generalized hypopigmentation, Abnormality of retinal pigmentation, Multiple cafe-au-lait spots, M...	ORPHA:1969
Methylcobalamin Deficiency Type Cble	Hydrocephalus, Ventriculomegaly, Glomerulopathy, Hemolytic-uremic syndrome	ORPHA:2169
Mycophenolate Mofetil Embryopathy	Hydrocephalus, Chorioretinal coloboma, Ectopic kidney, Agenesis of corpus callosum	ORPHA:268249
Inverted Duplicated Chromosome 15 Syndrome	Ventricular septal defect, Tetralogy of Fallot	ORPHA:3306
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Optic atrophy, Macular coloboma, Glomerulopathy, Hemolytic-uremic syndrome, Hydrocephalus, Abnorm...	ORPHA:79282
Cortical Dysplasia, Complex, With Other Brain Malformations 13	Plagiocephaly	OMIM:614563
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Perimembranous ventricular septal defect, Muscular ventricular septal defect, Abnormal heart morp...	ORPHA:363444
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Bicuspid aortic valve, Atrial septal defect, Hypoplastic left heart	OMIM:619721
Short Stature And Facioauriculothoracic Malformations	Ventricular septal defect	OMIM:609654
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Pigmentary retinopathy	OMIM:600462
Tatton-Brown-Rahman Syndrome	Atrial septal defect, Ventricular septal defect	OMIM:615879
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome	Atrial septal defect	ORPHA:521308
Ferguson-Bonni Neurodevelopmental Syndrome	Patent foramen ovale, Coronary-pulmonary artery fistula	OMIM:619699
Emanuel Syndrome	Unilateral renal agenesis, Hydrocephalus, Dandy-Walker malformation, Recurrent urinary tract infe...	OMIM:609029
Phace Association	Vascular dilatation, Aortic aneurysm, Coarctation of aorta, Arterial stenosis, Patent ductus arte...	OMIM:606519
Kniest Dysplasia	Retinal detachment, Vitreoretinopathy, Lattice retinal degeneration, Degenerative vitreoretinopat...	ORPHA:485
Pontocerebellar Hypoplasia, Type 3	Brachycephaly	OMIM:608027
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus	OMIM:620327
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Brachycephaly, Frontal bossing, Plagiocephaly	OMIM:616801
Stevenson-Carey Syndrome	Left superior vena cava draining to coronary sinus, Atrial septal defect	OMIM:611961
Pseudo-Torch Syndrome 1	Jaundice, Hepatomegaly, Patent foramen ovale, Thrombocytopenia, Splenomegaly, Patent ductus arter...	OMIM:251290
Mosaic Variegated Aneuploidy Syndrome	Abnormal aortic morphology, Acute lymphoblastic leukemia, Coarctation of aorta, Micrognathia, Nep...	ORPHA:1052
Pseudodiastrophic Dysplasia	Brachycephaly, Frontal bossing	OMIM:264180
Grant Syndrome	Brachycephaly, Frontal bossing	ORPHA:2097
Acrocardiofacial Syndrome	Truncus arteriosus, Coarctation of aorta, Mitral stenosis, Tetralogy of Fallot, Atrial septal def...	ORPHA:2008
Leopard Syndrome 1	Unilateral renal agenesis, Hypospadias, Mandibular prognathia, Hypertrophic cardiomyopathy, Missi...	OMIM:151100
Hamamy Syndrome	Dental malocclusion, Short 2nd finger, Enamel hypoplasia, Micrognathia, Microcytic anemia, Atrial...	OMIM:611174
Lymphatic Malformation 7	Pericardial effusion, Atrial septal defect, Anemia, Varicose veins	OMIM:617300
Osteopathia Striata With Cranial Sclerosis	Fibular aplasia, Fibular hypoplasia, Dental malocclusion, Paranasal sinus hypoplasia, Micrognathi...	OMIM:300373
Nasu-Hakola Disease	Hydrocephalus, Ventriculomegaly, Disinhibition	ORPHA:2770
Fanconi Anemia, Complementation Group Q	Bone marrow hypocellularity, Primum atrial septal defect, Biliary atresia	OMIM:615272
Jansen-De Vries Syndrome	Bicuspid aortic valve, Ventricular septal defect	OMIM:617450
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Hydrocephalus, Ventriculomegaly, Nasofrontal encephalocele, Optic disc pallor	OMIM:614195
Mosaic Trisomy 16	Hypospadias, Single coronary artery origin, Coarctation of aorta, Abnormal heart morphology, Shor...	ORPHA:1708
Oculoauriculofrontonasal Syndrome	Ventricular septal defect	ORPHA:398156
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	HbH hemoglobin, Microcytic anemia	ORPHA:98791
Intellectual Developmental Disorder, Autosomal Recessive 71	Ventricular septal defect	OMIM:618504
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Pulmonic stenosis, Eosinophilia, Atrial septal defect	OMIM:618282
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius	Hydrocephalus, Aqueductal stenosis, Holoprosencephaly, Agenesis of corpus callosum	ORPHA:2182
Immunodeficiency 96	Increased mean corpuscular volume, Increased proportion of gamma-delta T cells, Multicystic kidne...	OMIM:619774
Tetrasomy 9P	Biliary atresia, Juxtaductal coarctation of the aorta, Aplasia/Hypoplasia of the clavicles, Abnor...	ORPHA:3310
Waardenburg Syndrome Type 3	Atrial septal defect	ORPHA:896
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Hypospadias, Hypoplasia of penis, Hydrocephalus, Holoprosencephaly, Agenesis of corpus callosum	ORPHA:77298
Intellectual Developmental Disorder, Autosomal Recessive 38	Plagiocephaly	OMIM:615516
Intellectual Developmental Disorder, Autosomal Dominant 74	Brachycephaly	OMIM:620688
Vater/Vacterl Association	Ventricular septal defect, Transposition of the great arteries, Tetralogy of Fallot, Patent ductu...	OMIM:192350
Aase-Smith Syndrome I	Ventricular septal defect	OMIM:147800
Papillary Tumor Of The Pineal Region	Hydrocephalus, Increased CSF protein concentration	ORPHA:251915
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency	Abnormal cerebral vascular morphology, Venous insufficiency	ORPHA:743
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1	Atrial septal defect	OMIM:619115
Kapur-Toriello Syndrome	Ventricular septal defect, Tetralogy of Fallot, Patent ductus arteriosus	ORPHA:2328
Ciliary Dyskinesia, Primary, 5	Nasal polyposis, Recurrent sinusitis, Chronic rhinitis	OMIM:608647
Arachnoiditis	Hydrocephalus, Urinary bladder sphincter dysfunction	ORPHA:137817
Kleefstra Syndrome Due To 9Q34 Microdeletion	Hypoplasia of penis, Vesicoureteral reflux, Aortic valve stenosis, Coarctation of aorta, Tetralog...	ORPHA:96147
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Optic atrophy, Aqueductal stenosis, Retinal dystrophy, Hydrocephalus, Hyperactivity, Compulsive b...	OMIM:619512
Meier-Gorlin Syndrome 7	Meconium peritonitis, Hypospadias, Aplasia/Hypoplasia of the patella, Vesicoureteral reflux, Uret...	OMIM:617063
Lacrimoauriculodentodigital Syndrome	Anosmia, Choanal atresia	ORPHA:2363
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Hydrocephalus, Ventriculomegaly, Abnormal auditory evoked potentials, Agenesis of corpus callosum	OMIM:109120
17Q12 Microdeletion Syndrome	Renal hypoplasia/aplasia, Renal insufficiency, Pancreatic aplasia, Ureterocele, Multicystic kidne...	ORPHA:261265
Sporadic Adult-Onset Ataxia Of Unknown Etiology	Abnormal cranial nerve morphology, Macular degeneration, Abnormal autonomic nervous system physio...	ORPHA:247234
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Optic atrophy, Enlarged kidney, Hydrocephalus, Nephrotic syndrome, Abnormality of retinal pigment...	ORPHA:505248
Desbuquois Syndrome	Ventricular septal defect	ORPHA:1425
Noonan Syndrome 10	Patent ductus arteriosus, Hypertrophic cardiomyopathy, Pulmonic stenosis, Coarctation of aorta, M...	OMIM:616564
Warsaw Breakage Syndrome	Ventricular septal defect, Tetralogy of Fallot	OMIM:613398
1P36 Deletion Syndrome	Abnormality of the kidney, Annular pancreas, Hypospadias, 11 pairs of ribs, Hypoplasia of penis, ...	ORPHA:1606
Agnathia-Otocephaly Complex	Situs inversus totalis, Secundum atrial septal defect	OMIM:202650
Laurence-Moon Syndrome	Brachycephaly	ORPHA:2377
Vulto-Van Silfhout-De Vries Syndrome	Brachycephaly, Frontal bossing	OMIM:615828
Spinocerebellar Ataxia Type 7	Cone/cone-rod dystrophy, Macular degeneration, Abnormal fundus morphology, Cerebellar atrophy	ORPHA:94147
Aica-Ribosiduria	Brachycephaly	ORPHA:250977
Aminopterin Syndrome Sine Aminopterin	Brachycephaly, Frontal bossing	OMIM:600325
Serkal Syndrome	Pulmonic stenosis, Ventricular septal defect	ORPHA:139466
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Patent foramen ovale, Biventricular hypertrophy, Ventricular septal defect, Left ventricular hype...	OMIM:615474
Encephalocraniocutaneous Lipomatosis	Hydrocephalus, Dandy-Walker malformation, Pelvic kidney, Hydronephrosis, Agenesis of corpus callosum	OMIM:613001
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Hydrocephalus, Ventriculomegaly, Optic atrophy	ORPHA:60040
Mucopolysaccharidosis Type 3	Optic atrophy, Abnormal temper tantrums, Hydrocephalus, Hyperactivity, Pigmentary retinopathy, Mu...	ORPHA:581
Carpenter Syndrome 2	Situs inversus totalis, Transposition of the great arteries, Dextrocardia, Patent ductus arterios...	OMIM:614976
Ciliary Dyskinesia, Primary, 9	Male infertility	OMIM:612444
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome	Plagiocephaly	ORPHA:77300
Microbrachycephaly-Ptosis-Cleft Lip Syndrome	Flat occiput, Brachycephaly	ORPHA:2511
3P25.3 Microdeletion Syndrome	Coronary artery atherosclerosis, Pulmonic stenosis, Patent ductus arteriosus, Atrial septal defec...	ORPHA:435638
Keutel Syndrome	Pulmonary artery stenosis, Ventricular septal defect	ORPHA:85202
Temple Syndrome	Hydrocephalus, Polyphagia	ORPHA:254516
Central Neurocytoma	Hydrocephalus, Abnormal lateral ventricle morphology	ORPHA:73256
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1	Brachycephaly	OMIM:615419
Linear Skin Defects With Multiple Congenital Anomalies 1	Hypospadias, Hydrocephalus, Chordee, Colpocephaly, Agenesis of corpus callosum, Micropenis, Pigme...	OMIM:309801
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities	Patent foramen ovale, Right atrial enlargement, Pericardial effusion, Myocardial fibrosis, Myofib...	OMIM:620519
Contractural Arachnodactyly, Congenital	Aortic root aneurysm, Mitral valve prolapse, Patent ductus arteriosus, Bicuspid aortic valve, Atr...	OMIM:121050
Congenital Tracheomalacia	Patent ductus arteriosus, Right aortic arch, Double aortic arch, Abnormal heart morphology, Tetra...	ORPHA:95430
Gorlin Syndrome	Wide nasal bridge, Abnormality of the sense of smell	ORPHA:377
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Neoplasm of the heart, Megacystis, Hydroureter, Multicystic kidney dysplasia	ORPHA:2241
Chromosome 17Q12 Duplication Syndrome	Atrial septal defect	OMIM:614526
Fanconi Anemia, Complementation Group L	Unilateral renal agenesis, Hydrocephalus, Renal hypoplasia, Chromosome breakage, Attention defici...	OMIM:614083
Ethylene Glycol Poisoning	Renal tubular epithelial necrosis, Hematuria, Decreased urine output, Facial palsy, Addictive alc...	ORPHA:31826
Trisomy 20P	Abnormality of the kidney, Hypospadias, Abnormal autonomic nervous system physiology, Abnormality...	ORPHA:261318
Mucopolysaccharidosis-Plus Syndrome	Hepatomegaly, Macrovesicular hepatic steatosis, Anemia, Hypertrophic cardiomyopathy, Bone marrow ...	OMIM:617303
Cerebrocostomandibular Syndrome	Micrognathia, Ventricular septal defect, Multicystic kidney dysplasia	ORPHA:1393
Fg Syndrome Type 1	Hypospadias, Hydrocephalus, Optic nerve hypoplasia, Compulsive behaviors, Attention deficit hyper...	ORPHA:93932
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies	Atrial septal defect, Ventricular septal defect	OMIM:617452
Hardikar Syndrome	Intrahepatic bile duct dilatation, Cholestasis, Prolonged neonatal jaundice, Splenomegaly, Hypers...	OMIM:301068
Enlarged Parietal Foramina	Short clavicles, Venous malformation, Abnormal cerebral vein morphology	ORPHA:60015
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1	Aortic valve stenosis, Atrial septal defect, Mitral stenosis, Hypoplastic left heart	OMIM:617660
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies	Plagiocephaly	OMIM:617481
7Q11.23 Microduplication Syndrome	Hypospadias, Unilateral renal agenesis, Hydrocephalus, Hyperactivity, Polyphagia, Enuresis, Abnor...	ORPHA:96121
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Cholestatic liver disease, Jaundice, Giant cell hepatitis, Hepatomegaly, Right ventricular hypert...	OMIM:613404
Ciliary Dyskinesia, Primary, 18	Male infertility, Immotile sperm	OMIM:614874
Noonan Syndrome 5	Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy	OMIM:611553
Gomez-Lopez-Hernandez Syndrome	Brachycephaly, Craniosynostosis, Turricephaly, Skull asymmetry	OMIM:601853
Renal Tubular Dysgenesis	Renotubular dysgenesis, Anuria, Abnormality of the urinary system	OMIM:267430
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Ventricular septal defect	OMIM:601357
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Hydrocephalus, Vesicoureteral reflux, Micropenis, Unilateral renal agenesis	OMIM:619951
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Atrial septal defect, Jaundice, Hepatomegaly, Patent foramen ovale, Pericardial effusion, Dilated...	ORPHA:26793
Noonan Syndrome 4	Hypertrophic cardiomyopathy, Pulmonic stenosis, Thrombocytopenia, Atrial septal defect, Ventricul...	OMIM:610733
Osteopetrosis, Autosomal Recessive 2	Hydrocephalus, Optic atrophy, Facial paralysis, Cranial nerve compression	OMIM:259710
Intellectual Developmental Disorder, Autosomal Dominant 48	Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus	OMIM:617751
Desanto-Shinawi Syndrome	Brachycephaly	OMIM:616708
Tatton-Brown-Rahman Syndrome	Aortic root aneurysm, Atrial septal defect, Patent ductus arteriosus, Myeloid leukemia	ORPHA:404443
Intellectual Developmental Disorder, Autosomal Recessive 65	Atrial septal defect, Secundum atrial septal defect	OMIM:618109
Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures	Brachycephaly, Plagiocephaly	OMIM:618862
Cancer-Associated Retinopathy	Optic atrophy, Granular macular appearance, Retinal atrophy, Optic disc pallor, Diffuse cerebella...	ORPHA:71505
Glutaric Acidemia I	Hydrocephalus, Glutaric aciduria, Lateral ventricle dilatation, Ketonuria	OMIM:231670
Muenke Syndrome	Coronal craniosynostosis, Plagiocephaly, Brachycephaly	ORPHA:53271
Intellectual Developmental Disorder, Autosomal Recessive 68	Hydrocephalus	OMIM:618302
Seckel Syndrome 9	Atrial septal defect, Ventricular septal defect, Pulmonary artery hypoplasia	OMIM:616777
Systemic Capillary Leak Syndrome	Oliguria, Renal insufficiency, Abnormal renal tubule morphology	ORPHA:188
Isolated Klippel-Feil Syndrome	Ventricular septal defect	ORPHA:2345
Myopathy With Extrapyramidal Signs	Ventricular septal defect, Hepatomegaly, Leukocytosis, Splenomegaly	OMIM:615673
Acute Monoblastic/Monocytic Leukemia	Oliguria, Anorexia	ORPHA:514
Brain-Lung-Thyroid Syndrome	Hypospadias, Hyperactivity, Vesicoureteral reflux, Compulsive behaviors, Abnormal drinking behavi...	ORPHA:209905
Pseudo-Torch Syndrome 2	Hepatomegaly, Secundum atrial septal defect, Thrombocytopenia, Cerebral hemorrhage, Patent ductus...	OMIM:617397
Hurler Syndrome	Retinal degeneration	OMIM:607014
Phaver Syndrome	Coarctation of aorta, Ventricular septal defect, Pulmonary artery atresia, Hypoplastic aortic arch	ORPHA:2876
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Abnormal heart morphology, Ventricular septal defect	ORPHA:254534
Kearns-Sayre Syndrome	Pigmentary retinopathy	OMIM:530000
Dominant Beta-Thalassemia	Hypochromic microcytic anemia, Decreased mean corpuscular hemoglobin concentration, Persistence o...	ORPHA:231226
Ritscher-Schinzel Syndrome 2	Atrial septal defect, Ventricular septal defect, Pulmonary artery hypoplasia, Patent ductus arter...	OMIM:300963
Intellectual Developmental Disorder, Autosomal Dominant 23	Brachycephaly	OMIM:615761
Familial Adenomatous Polyposis 4	Ovarian cyst, Renal cyst	OMIM:617100
Neu-Laxova Syndrome 1	Patent foramen ovale, Transposition of the great arteries, Ventricular septal defect, Patent duct...	OMIM:256520
Smith-Lemli-Opitz Syndrome	Supernumerary tooth, Advanced eruption of teeth, Renal hypoplasia/aplasia, Abnormality of the gal...	ORPHA:818
Restrictive Dermopathy	Transposition of the great arteries, Dextrocardia, Ascending tubular aorta aneurysm, Patent ductu...	ORPHA:1662
Prolidase Deficiency	White forelock, Abnormality of retinal pigmentation	ORPHA:742
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Cardiomegaly, Partial atrioventricular canal defect, Coarctation of aorta, Secundum atrial septal...	OMIM:620066
Craniodigital-Intellectual Disability Syndrome	Brachycephaly	ORPHA:1514
Teebi Hypertelorism Syndrome 1	Aortic root aneurysm, Atrial septal defect, Ventricular septal defect	OMIM:145420
Intellectual Developmental Disorder, Autosomal Dominant 65	Compulsive behaviors, Agenesis of corpus callosum, Noncommunicating hydrocephalus, Attention defi...	OMIM:619320
Coffin-Siris Syndrome 7	Bicuspid aortic valve, Patent foramen ovale, Ventricular septal defect	OMIM:618027
Acquired Methemoglobinemia	Methemoglobinemia	ORPHA:464453
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Patent foramen ovale, Secundum atrial septal defect, Cardiomyopathy, Patent ductus arteriosus	OMIM:616866
Diffuse Cutaneous Systemic Sclerosis	Oliguria, Renal insufficiency, Dysphagia	ORPHA:220393
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus	ORPHA:457193
Developmental And Epileptic Encephalopathy 1	Plagiocephaly	OMIM:308350
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Coronal craniosynostosis, Frontal bossing, Calvarial skull defect, Brachycephaly	ORPHA:228390
Triploidy	Hypospadias, Hypoplasia of penis, Hydrocephalus, Meningocele, Holoprosencephaly	ORPHA:3376
Noonan Syndrome 3	Juvenile myelomonocytic leukemia, Tricuspid valve prolapse, Patent foramen ovale, Hypertrophic ca...	OMIM:609942
Renal Agenesis	Unilateral renal agenesis, Aplasia/Hypoplasia of the bladder, Bilateral renal agenesis, Renal age...	ORPHA:411709
Diamond-Blackfan Anemia	Normochromic anemia, Macrocytic dyserythropoietic anemia, Abnormal heart morphology, Leukopenia, ...	ORPHA:124
Beta-Thalassemia Major	Anisopoikilocytosis, Hypochromic microcytic anemia, Decreased mean corpuscular hemoglobin concent...	ORPHA:231214
Orofaciodigital Syndrome Type 1	Vascular dilatation, Multicystic kidney dysplasia, Renal insufficiency, Abnormal dental enamel mo...	ORPHA:2750
Von Willebrand Disease	Venous insufficiency, Abnormal mitral valve morphology, Thrombocytopenia, Microcytic anemia, Gast...	ORPHA:903
Rabin-Pappas Syndrome	Hydrocephalus, Optic nerve hypoplasia, Retinal telangiectasia, Retinal detachment	OMIM:620155
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Hepatomegaly, Anemia, Dextrocardia, Pancytopenia, Megaloblastic anemia, Thrombocytopenia, Patent ...	OMIM:277380
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Hepatomegaly, Patent foramen ovale, Left ventricular hypertrophy, Dilated cardiomyopathy, Left ve...	OMIM:619167
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Renal tubular acidosis, Hydrocephalus, Head-banging, Dilated third ventricle, Frequent temper tan...	OMIM:619575
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies	Plagiocephaly	OMIM:618731
Chromosome 6Q24-Q25 Deletion Syndrome	Patent ductus arteriosus, Dysplastic pulmonary valve, Right ventricular dilatation, Mitral valve ...	OMIM:612863
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome	Atrial septal defect, Ventricular septal defect	ORPHA:505237
Moebius Syndrome	Abnormality of the sense of smell	ORPHA:570
Holoprosencephaly 14	Double outlet right ventricle, Ventricular septal defect, Aortic valve atresia	OMIM:619895
Glomuvenous Malformation	Abnormal renal morphology, Gastrointestinal arteriovenous malformation, Venous malformation, Arte...	ORPHA:83454
Hydrocephalus, Congenital, X-Linked	Hydrocephalus, Aqueductal stenosis, Agenesis of corpus callosum	OMIM:307000
6Q25 Microdeletion Syndrome	Plagiocephaly	ORPHA:251056
Oculocerebral Hypopigmentation Syndrome, Preus Type	Hydrocephalus, Abnormal renal tubule morphology, Ocular albinism	ORPHA:2720
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Hydrocephalus, Ventriculomegaly, Optic atrophy, Homocystinuria	ORPHA:395
Hemorrhagic Fever-Renal Syndrome	Acute kidney injury, Agitation, Hematuria, Decreased glomerular filtration rate, Acute tubulointe...	ORPHA:340
Arachnoid Cyst	Urinary incontinence, Encephalocele, Hydrocephalus, Facial palsy, Urinary bladder sphincter dysfu...	ORPHA:2356
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus	OMIM:617061
Cornelia De Lange Syndrome 5	Brachycephaly	OMIM:300882
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Patent foramen ovale, Abnormal heart morphology, Ventricular septal defect	ORPHA:369891
Jacobsen Syndrome	Annular pancreas, Missing ribs, Aortic valve stenosis, Bone marrow hypocellularity, Coarctation o...	ORPHA:2308
Doors Syndrome	Aplasia/Hypoplasia of the phalanges of the 2nd toe, 11 pairs of ribs, Short 5th finger, Short dis...	ORPHA:79500
Cataract-Intellectual Disability-Hypogonadism Syndrome	Brachycephaly	ORPHA:1387
Chromosome 5P13 Duplication Syndrome	Brachycephaly, Craniosynostosis, Turricephaly, Frontal bossing	OMIM:613174
Car T Cell Therapy-Associated Cytokine Release Syndrome	Acute kidney injury, Decreased urine output	ORPHA:542323
Lassa Fever	Oliguria, Dysphagia	ORPHA:99824
Beare-Stevenson Cutis Gyrata Syndrome	Optic atrophy, Hypospadias, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	OMIM:123790
Xq28 (MECP2) duplication	Brachycephaly	DECIPHER:45
Alazami Syndrome	Atrial septal defect	ORPHA:319671
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Hypospadias, Coarctation of aorta, Tetralogy of Fallot, Patent ductus arteriosus, Ventricular sep...	OMIM:600460
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Brachycephaly, Frontal bossing, Plagiocephaly	OMIM:618430
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Patent foramen ovale, Abnormal heart morphology, Bicuspid aortic valve, Atrial septal defect, Ven...	ORPHA:457279
Mitochondrial Trifunctional Protein Deficiency 1	Pigmentary retinopathy	OMIM:609015
Renal Nutcracker Syndrome	Hematuria, Anemia, Renal artery stenosis, Vulval varicose vein, Microscopic hematuria, Proteinuri...	ORPHA:71273
Diamond-Blackfan Anemia 1	Retrognathia, Hypoplastic coccygeal vertebrae, Macrocytic anemia, Absent thumb, Hypoplastic sacra...	OMIM:105650
Brachydactyly, Type B1	Ventricular septal defect	OMIM:113000
Insulin-Like Growth Factor I, Resistance To	Atrial septal defect, Patent foramen ovale, Ventricular septal defect	OMIM:270450
Multicystic Dysplastic Kidney	Enlarged kidney, Unilateral renal agenesis, Ureterovesical junction obstruction, Vesicoureteral r...	ORPHA:1851
Donnai-Barrow Syndrome	Ventricular septal defect	ORPHA:2143
Intellectual Developmental Disorder, Autosomal Dominant 47	Ventricular septal defect	OMIM:617635
Cockayne Syndrome Type 3	Premature graying of hair, Retinal dystrophy, Retinal atrophy, Retinal hemorrhage, Retinal degene...	ORPHA:90324
Cockayne Syndrome A	Optic atrophy, Decreased nerve conduction velocity, Retinal atrophy, Abnormal auditory evoked pot...	OMIM:216400
Alagille Syndrome	Hepatomegaly, Cholestasis, Reduced number of intrahepatic bile ducts, Atrial septal defect, Ventr...	ORPHA:52
Von Hippel-Lindau Syndrome	Hepatic hemangioma, Neoplasm of the pancreas, Renal cell carcinoma, Polycythemia, Multiple renal ...	OMIM:193300
Intellectual Developmental Disorder, Autosomal Recessive 72	Secundum atrial septal defect	OMIM:618665
Neurooculorenal Syndrome	Aqueductal stenosis, Unilateral renal agenesis, Hydrocephalus, Bilateral renal agenesis, Stage 2 ...	OMIM:620305
Noonan Syndrome 7	Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy	OMIM:613706
Recombinant 8 Syndrome	Pulmonary artery stenosis, Tetralogy of Fallot, Patent ductus arteriosus, Atrial septal defect, V...	ORPHA:96167
German Syndrome	Brachycephaly, Dolichocephaly	ORPHA:2077
Robinow-Sorauf Syndrome	Plagiocephaly, Pansynostosis, Craniosynostosis	OMIM:180750
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Atrial septal defect, Hepatomegaly, Hypertrophic cardiomyopathy	OMIM:619383
Congenital Syphilis	Optic atrophy, Hydrocephalus, Chorioretinitis, CSF pleocytosis, Nephrotic syndrome	ORPHA:499009
19P13.12 Microdeletion Syndrome	Atrial septal defect, Ventricular septal defect, Hepatic steatosis	ORPHA:254346
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Persistence of hemoglobin F	OMIM:617101
Mucopolysaccharidosis Type 1	Hydrocephalus, Mucopolysacchariduria, Retinopathy, Optic atrophy	ORPHA:579
Hypocalciuric Hypercalcemia, Familial, Type Iii	Pancreatitis, Hypocalciuria, Parathormone-independent increased renal tubular calcium reabsorptio...	OMIM:600740
Vacterl With Hydrocephalus	Aqueductal stenosis, Renal hypoplasia/aplasia, Hydrocephalus, Abnormal optic nerve morphology, Sp...	ORPHA:3412
Chromosome 2Q37 Deletion Syndrome	Brachycephaly, Arrhythmia	OMIM:600430
Trisomy 10P	Abnormality of the kidney, Retrognathia, Micrognathia, Abnormal heart morphology, Short toe, Mult...	ORPHA:171929
Noonan Syndrome 2	Abnormal coronary artery origin, Atrioventricular canal defect, Patent foramen ovale, Cardiomyopa...	OMIM:605275
Pontocerebellar Hypoplasia, Type 8	Patent foramen ovale, Ventricular septal defect	OMIM:614961
Endocrine-Cerebroosteodysplasia	Enlarged kidney, Hypospadias, Hydrocephalus, Microphallus, Holoprosencephaly, Hyperechogenic kidn...	OMIM:612651
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities	Brachycephaly	OMIM:616083
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Hydrocephalus, Ventriculomegaly, Retinal dystrophy	OMIM:616538
Neurodegeneration With Brain Iron Accumulation 1	Optic atrophy, Retinal degeneration, Pigmentary retinopathy, Hyperpigmentation of the skin	OMIM:234200
Williams Syndrome	Abnormal carotid artery morphology, Hypoplasia of penis, Pulmonic stenosis, Nephrocalcinosis, Mul...	ORPHA:904
Cardioacrofacial Dysplasia 2	Common atrium, Left superior vena cava draining to coronary sinus, Atrioventricular canal defect	OMIM:619143
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Optic atrophy, Pigmentary retinopathy	ORPHA:436271
Autoimmune Polyendocrinopathy Type 4	Aplasia/Hypoplasia of the spleen, Non-caseating epithelioid cell granulomatosis, Macrocytic anemi...	ORPHA:227990
Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities	Brachycephaly	OMIM:620240
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome	Atrial septal defect, Hepatosplenomegaly, Patent ductus arteriosus	ORPHA:397709
Mucopolysaccharidosis Type 2	Optic atrophy, Decreased nerve conduction velocity, Retinopathy, Abnormal foveal morphology, Papi...	ORPHA:580
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Hypospadias, Dandy-Walker malformation, Optic nerve hypoplasia, Renal cyst, Attention deficit hyp...	ORPHA:495875
Axenfeld-Rieger Syndrome, Type 3	Atrial septal defect, Patent ductus arteriosus	OMIM:602482
Familial Multiple Nevi Flammei	Arteriovenous malformation, Intracranial hemorrhage, Venous insufficiency	ORPHA:624
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Anterior plagiocephaly, Frontal bossing, Brachycephaly	ORPHA:163649
Usher Syndrome	Abnormality of retinal pigmentation	ORPHA:886
Buratti-Harel Syndrome	Atrial septal defect, Dilation of Virchow-Robin spaces	OMIM:619314
Malan Overgrowth Syndrome	Frontal bossing, Plagiocephaly, Scaphocephaly	ORPHA:420179
2Q32Q33 Microdeletion Syndrome	Brachycephaly	ORPHA:251019
Exstrophy-Epispadias Complex	Penoscrotal transposition, Epispadias, Abnormality of the kidney, Urinary incontinence, Bifid pen...	ORPHA:322
Kapur-Toriello Syndrome	Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus	OMIM:244300
Schinzel-Giedion Syndrome	Retrognathia, Annular pancreas, Hypospadias, Delayed eruption of teeth, Nephrolithiasis, Renal cy...	ORPHA:798
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities	Patent foramen ovale, Coarctation of aorta, Tetralogy of Fallot, Ventricular septal defect, Hypop...	OMIM:618748
20Q13.33 Microdeletion Syndrome	Abnormal cardiac ventricle morphology, Atrial septal defect, Dilation of Virchow-Robin spaces, Hy...	ORPHA:261311
Shashi-Pena Syndrome	Atrial septal defect, Dilation of Virchow-Robin spaces, Patent ductus arteriosus	OMIM:617190
Werner Syndrome	Premature graying of hair, Abnormality of retinal pigmentation, White forelock	ORPHA:902
Hec Syndrome	Abnormal retinal vascular morphology, Communicating hydrocephalus	ORPHA:2119
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Hydrocephalus	OMIM:300886
Oculocerebrorenal Syndrome Of Lowe	Abnormal renal tubule morphology, Self-injurious behavior, Glomerulopathy, Hematuria, Azoospermia...	ORPHA:534
1Q21.1 Microdeletion Syndrome	Hydrocephalus, Vesicoureteral reflux, Hydronephrosis, Agenesis of corpus callosum, Attention defi...	ORPHA:250989
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity	Hydrocephalus	OMIM:615599
Osteopetrosis, Autosomal Recessive 1	Hydrocephalus, Optic atrophy, Facial palsy, Facial paralysis	OMIM:259700
Acrodysostosis 1 With Or Without Hormone Resistance	Hydrocephalus, Optic atrophy, Unilateral renal agenesis	OMIM:101800
Mayer-Rokitansky-Kuster-Hauser Syndrome	Renal cyst, Reduced renal corticomedullary differentiation, Polycystic ovaries, Multicystic kidne...	OMIM:277000
Mandibulofacial Dysostosis-Microcephaly Syndrome	Atrial septal defect	ORPHA:79113
Hereditary Late-Onset Parkinson Disease	Hyposmia	ORPHA:411602
Chromosome 18Q Deletion Syndrome	Dysplastic pulmonary valve, Ascending tubular aorta aneurysm, Absence of the pulmonary valve, Dys...	OMIM:601808
Cockayne Syndrome	Optic atrophy, Decreased nerve conduction velocity, Retinal dystrophy, Retinal atrophy, Pigmentar...	ORPHA:191
Bdv Syndrome	Atrial septal defect	OMIM:619326
Spondylocarpotarsal Synostosis Syndrome	Abnormality of retinal pigmentation, Renal cyst	OMIM:272460
Msh3-Related Attenuated Familial Adenomatous Polyposis	Ovarian dermoid cyst, Renal cyst	ORPHA:480536
Menkes Disease	Brachycephaly, Intracranial hemorrhage	OMIM:309400
Primary Pulmonary Hypoplasia	Abnormal pulmonary artery morphology, Secundum atrial septal defect, Dextrocardia	ORPHA:2257
Cdags Syndrome	Brachycephaly, Lambdoidal craniosynostosis, Parietal foramina, Coronal craniosynostosis, Frontal ...	OMIM:603116
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type	Brachycephaly	OMIM:300958
Crouzon Syndrome	Brachycephaly, Lambdoidal craniosynostosis, Coronal craniosynostosis, Frontal bossing, Sagittal c...	OMIM:123500
L1 Syndrome	Hydrocephalus, Aqueductal stenosis, Aganglionic megacolon	ORPHA:275543
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Optic disc pallor, Pigmentary retinopathy	ORPHA:502423
Osteopathia Striata-Cranial Sclerosis Syndrome	Brachycephaly, Aortic valve stenosis, Frontal bossing, Facial hyperostosis, Flat occiput, Thicken...	ORPHA:2780
Char Syndrome	Ventricular septal defect, Patent ductus arteriosus	ORPHA:46627
Foix-Alajouanine Syndrome	Urinary incontinence, Venous malformation, Arteriovenous fistula, Neurogenic bladder, Functional ...	ORPHA:79093
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities	Plagiocephaly	OMIM:618089
Lethal Congenital Contracture Syndrome 10	Cardiomegaly, Overriding aorta, Ventricular septal defect, Hypoplasia of the thymus	OMIM:617022
Lymphedema-Distichiasis Syndrome	Micrognathia, Tetralogy of Fallot, Patent ductus arteriosus, Varicose veins, Ventricular septal d...	OMIM:153400
Cohen Syndrome	Optic atrophy, Abnormality of skin pigmentation, Abnormality of retinal pigmentation, Chorioretin...	ORPHA:193
Branchio-Oculo-Facial Syndrome	Renal agenesis, Hydronephrosis, Multicystic kidney dysplasia	ORPHA:1297
Milroy Disease	Varicose veins, Abnormal venous morphology	ORPHA:79452
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Anemia, Vascular dilatation, Stroke, Arterial stenosis, Patent ductus arteriosus, Abnormal cerebr...	ORPHA:2637
Peho Syndrome	Hydrocephalus, Ventriculomegaly, Optic atrophy	ORPHA:2836
Mend Syndrome	Hydrocephalus, Dandy-Walker malformation, Hyperactivity, Crossed fused renal ectopia, Macular hyp...	OMIM:300960
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Unilateral renal agenesis, Communicating hydrocephalus	ORPHA:1064
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Optic atrophy, Retinal dystrophy, Hydrocephalus, Optic nerve hypoplasia, Renal hypoplasia, Microp...	OMIM:619321
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Atrial septal defect, Ventricular septal defect	OMIM:610978
Chromosome 9P Deletion Syndrome	Atrial septal defect, Perimembranous ventricular septal defect, Ventricular septal defect, Patent...	OMIM:158170
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1	Bicuspid aortic valve, Atrial septal defect, Dilation of Virchow-Robin spaces	OMIM:619720
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Renal hypoplasia/aplasia, Aplasia/Hypoplasia of...	ORPHA:3186
Sotos Syndrome	Muscular ventricular septal defect, Prolonged neonatal jaundice, Patent ductus arteriosus, Atrial...	OMIM:117550
Monosomy 9Q22.3	Hydrocephalus, Hyperactivity, Retinopathy, Nephroblastoma, Ventriculomegaly	ORPHA:77301
Congenital Heart Defects And Skeletal Malformations Syndrome	Aortic root aneurysm, Atrial septal defect, Ventricular septal defect, Coarctation of aorta	OMIM:617602
Codas Syndrome	Ventricular septal defect, Extrahepatic biliary duct atresia	ORPHA:1458
Melanosis, Neurocutaneous	Hydrocephalus, Dandy-Walker malformation, Choroid plexus papilloma	OMIM:249400
Maternal Uniparental Disomy Of Chromosome 4	Optic atrophy, Rod-cone dystrophy, Pigmentary retinopathy	ORPHA:96180
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Hydrocephalus	ORPHA:2701
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Hydrocephalus, Ventriculomegaly, Agenesis of corpus callosum, Hypoplasia of penis	ORPHA:1812
Coffin-Lowry Syndrome	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:192
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Optic atrophy, Retinal dysplasia, Retinal dystrophy, Retinal detachment, Abnormal optic nerve mor...	ORPHA:2526
Monosomy 18P	Brachycephaly, Hypertension	ORPHA:1598
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Atrial septal defect, Ventricular septal defect, Ascending tubular aorta aneurysm	OMIM:309520
Chopra-Amiel-Gordon Syndrome	Brachycephaly	OMIM:619504
Frontonasal Dysplasia 3	Brachycephaly	OMIM:613456
Mandibulofacial Dysostosis, Guion-Almeida Type	Atrial septal defect, Ventricular septal defect	OMIM:610536
Coccidioidomycosis	Abnormality of the kidney, Hydrocephalus, Abnormality of the bladder, CSF lymphocytic pleiocytosi...	ORPHA:228123
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type	Atrial septal defect, Mitral valve prolapse	OMIM:300986
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Hydranencephaly, Hydrocephalus, Dandy-Walker malformation, Agenesis of corpus callosum, Ventricul...	OMIM:225790
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Pericardial lymphangiectasia, Intestinal lymphangiectasia, Pleural lymphangiectasia, Pericardial ...	OMIM:235510
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Autoimmune hemolytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Ventricu...	OMIM:243150
Myopathy, Mitochondrial, And Ataxia	Pigmentary retinopathy	OMIM:617675
Chops Syndrome	Patent foramen ovale, Anomalous pulmonary venous return, Splenomegaly, Patent ductus arteriosus, ...	OMIM:616368
Metatropic Dysplasia	Hydrocephalus	ORPHA:2635
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Optic atrophy, Pigmentary retinopathy	OMIM:220110
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Hydrocephalus, Agenesis of corpus callosum	OMIM:617542
Pseudoaminopterin Syndrome	Short 4th metacarpal, Patent foramen ovale, Asplenia, Micrognathia, Short thumb, Horseshoe kidney	ORPHA:221120
Loeys-Dietz Syndrome 2	Pulmonary artery aneurysm, Arterial tortuosity, Descending thoracic aorta aneurysm, Descending ao...	OMIM:610168
Al Kaissi Syndrome	Atrial septal defect	OMIM:617694
Cholera	Acute kidney injury, Abnormality of renal excretion, Decreased urine output	ORPHA:173
Aicardi Syndrome	Optic atrophy, Retinal detachment, Abnormality of skin pigmentation, Abnormality of retinal pigme...	ORPHA:50
Autoimmune Polyendocrinopathy Type 3	Aplasia/Hypoplasia of the spleen, Non-caseating epithelioid cell granulomatosis, Macrocytic anemi...	ORPHA:227982
Cardiofaciocutaneous Syndrome 1	Hydrocephalus, Optic nerve dysplasia, Hydronephrosis, Tongue thrusting	OMIM:115150
Spondylo-Ocular Syndrome	Ventricular septal defect	ORPHA:85194
Alkuraya-Kucinskas Syndrome	Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation, Micropenis	OMIM:617822
Gaucher Disease, Type I	Macular atrophy, Hyperpigmentation of the skin	OMIM:230800
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Ventricular septal defect, Hypertrophic cardiomyopathy, Patent ductus arteriosus	OMIM:612938
Fanconi Anemia, Complementation Group F	Anemia, Bone marrow hypocellularity, Thrombocytopenia, Leukopenia, Patent ductus arteriosus, Atri...	OMIM:603467
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Male infertility	ORPHA:2239
Camptodactyly Syndrome, Guadalajara Type 1	Brachycephaly	ORPHA:1327
Humeroradial Synostosis	Brachycephaly	OMIM:236400
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Hydrocephalus, Ventriculomegaly, Colpocephaly, Agenesis of corpus callosum	OMIM:620156
Xeroderma Pigmentosum, Complementation Group E	Defective DNA repair after ultraviolet radiation damage	OMIM:278740
Mogs-Cdg	Hepatomegaly, Thrombocytopenia, Hepatosplenomegaly, Left ventricular hypertrophy, Cardiomegaly, A...	ORPHA:79330
Aica-Ribosiduria Due To Atic Deficiency	Secundum atrial septal defect	OMIM:608688
Pde4D Haploinsufficiency Syndrome	Brachycephaly, Frontal bossing, Thickened calvaria, Hypotension	ORPHA:439822
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatomegaly, Pancreatic lymphangiectasis, Splenomegaly, Pulmonary lymphangiectasia, Ventricular ...	OMIM:235255
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Optic atrophy, Abnormality of retinal pigmentation, Retinal detachment	ORPHA:394
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Brachycephaly	OMIM:218000
Congenital Disorder Of Glycosylation, Type It	Hepatomegaly, Intrahepatic cholestasis, Increased hepatic glycogen content, Hepatitis, Chronic he...	OMIM:614921
Mosaic Variegated Aneuploidy Syndrome 2	Atrial septal defect, Ventricular septal defect, Subvalvular aortic stenosis, Coarctation of aorta	OMIM:614114
Jacobsen Syndrome	Optic atrophy, Hypospadias, Hydrocephalus, Holoprosencephaly, Chorioretinal coloboma, Macular hyp...	OMIM:147791
Beckwith-Wiedemann Syndrome	Enlarged kidney, Ureteral duplication, Hepatomegaly, Abnormal pancreas morphology, Congenital meg...	ORPHA:116
Cardiac-Valvular Ehlers-Danlos Syndrome	Aortic root aneurysm, Abnormal heart valve morphology, Mitral valve prolapse, Left ventricular hy...	ORPHA:230851
Myopathy, Centronuclear, X-Linked	Hydrocephalus, Dandy-Walker malformation, Facial palsy	OMIM:310400
Clapo Syndrome	Varicose veins, Lymphangioma, Venous malformation	ORPHA:168984
Retinoblastoma	Retinoblastoma, Retinal calcification, Subretinal pigment epithelium hemorrhage, Heterochromia ir...	ORPHA:790
Tenorio Syndrome	Hydrocephalus, Ventriculomegaly, Enuresis	OMIM:616260
Shwachman-Diamond Syndrome 1	Anemia, Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Thrombocytopenia, Neut...	OMIM:260400
Cooper-Jabs Syndrome	Ventricular septal defect	ORPHA:1488
Antley-Bixler Syndrome	Brachycephaly, Craniosynostosis, Turricephaly, Frontal bossing	ORPHA:83
ERI1-related disease	Brachycephaly, Tricuspid regurgitation, Pulmonary arterial hypertension, Trigonocephaly, Frontal ...	OMIM:608739
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome	Ventricular septal defect, Patent ductus arteriosus	ORPHA:52055
Hurler Syndrome	Hydrocephalus, Mucopolysacchariduria, Abnormal nerve conduction velocity, Retinopathy	ORPHA:93473
Thanatophoric Dysplasia Type 1	Atrial septal defect, Patent ductus arteriosus	ORPHA:1860
Intellectual Developmental Disorder, X-Linked, Syndromic 35	Pulmonary artery stenosis, Atrial septal defect, Ventricular septal defect, Dilation of Virchow-R...	OMIM:300998
Peters Plus Syndrome	Renal hypoplasia/aplasia, Ureteral duplication, Hypospadias, Rhizomelia, Abnormal pulmonary vein ...	ORPHA:709
Microphthalmia With Linear Skin Defects Syndrome	Epispadias, Abnormal vitreous humor morphology, Hypospadias, Retinal dysplasia, Retinal dystrophy...	ORPHA:2556
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Hydrocephalus	ORPHA:2181
2Q23.1 Microdeletion Syndrome	Brachycephaly	ORPHA:228402
Noonan Syndrome 13	Atrial septal defect, Mitral valve prolapse	OMIM:619087
Beck-Fahrner Syndrome	Cardiomegaly, Ventricular septal defect	OMIM:618798
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Atrial septal defect, Patent ductus arteriosus, Neutropenia	OMIM:618005
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Ventricular septal defect	OMIM:616901
Edinburgh Malformation Syndrome	Hydrocephalus	ORPHA:1895
Apert Syndrome	Hydrocephalus, Ventriculomegaly, Optic atrophy, Agenesis of corpus callosum	ORPHA:87
Blepharophimosis-Impaired Intellectual Development Syndrome	Frontal bossing, Plagiocephaly	OMIM:619293
Larsen-Like Syndrome	Brachycephaly, Frontal bossing	OMIM:608545
Monosomy 18Q	Hydrocephalus, Micropenis, Abnormal retinal morphology	ORPHA:1600
Kury-Isidor Syndrome	Brachycephaly, Frontal bossing	OMIM:619762
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Normal pressure hydrocephalus, Optic nerve hypoplasia, Abnormal autonomic nervous system physiolo...	ORPHA:300570
Fetal Alcohol Syndrome	Atrial septal defect	ORPHA:1915
Hypomandibular Faciocranial Dysostosis	Atrial septal defect, Patent ductus arteriosus	ORPHA:1790
Gm1 Gangliosidosis	Cardiomyopathy, Abnormal heart morphology, Hepatosplenomegaly, Splenomegaly, Cherry red spot of t...	ORPHA:354
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Atrial septal defect, Ventricular septal defect	OMIM:617360
Lymphatic Malformation 6	Atrial septal defect, Intestinal lymphangiectasia, Splenomegaly, Varicose veins	OMIM:616843
Xeroderma Pigmentosum, Complementation Group C	Defective DNA repair after ultraviolet radiation damage	OMIM:278720
Dural Sinus Malformation	Hydrocephalus, Papilledema, Myelopathy	ORPHA:97339
Cardiofaciocutaneous Syndrome	Hydrocephalus, Optic atrophy, Hydronephrosis	ORPHA:1340
Smith-Magenis Syndrome	Brachycephaly	OMIM:182290
Thymoma	Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Leukemia	ORPHA:99867
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Hypoplastic aortic arch, Aortic root aneurysm, Patent foramen ovale, Hypertrophic cardiomyopathy,...	OMIM:617506
Basel-Vanagaite-Smirin-Yosef Syndrome	Atrial septal defect, Ventricular septal defect	OMIM:616449
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Patent foramen ovale, Ventricular septal defect, Pulmonary artery atresia, Patent ductus arteriosus	OMIM:620113
Townes-Brocks Syndrome	Abnormality of the kidney, Ectopic kidney, Hypospadias, Hypoplasia of penis, Absent toe, Vesicour...	ORPHA:857
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Acute kidney injury, Anuria, Hemolytic-uremic syndrome	OMIM:235400
Bone Marrow Failure Syndrome 3	Aplastic anemia, Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume,...	OMIM:617052
Lissencephaly 9 With Complex Brainstem Malformation	Ventricular septal defect	OMIM:618325
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Brachycephaly, Frontal bossing, Plagiocephaly	OMIM:617296
Temple Syndrome	Hydrocephalus	OMIM:616222
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Pulmonic stenosis, Patent foramen ovale	OMIM:618914
Desmosterolosis	Renal hypoplasia/aplasia, Hydrocephalus, Renal agenesis, Agenesis of corpus callosum, Ventriculom...	ORPHA:35107
Craniofacial Microsomia 1	Ectopic kidney, Right aortic arch, Vesicoureteral reflux, Maxillozygomatic hypoplasia, Vertebral ...	OMIM:164210
Nabais Sa-De Vries Syndrome, Type 1	Brachycephaly	OMIM:618828
Koolen-De Vries Syndrome Due To A Point Mutation	Optic atrophy, Hypospadias, Hydrocephalus, Recurrent urinary tract infections, Vesicoureteral ref...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Optic atrophy, Hypospadias, Hydrocephalus, Recurrent urinary tract infections, Vesicoureteral ref...	ORPHA:363958
Intellectual Disability-Strabismus Syndrome	Atrial septal defect, Patent ductus arteriosus	ORPHA:363528
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Hydrocephalus, Ureteral triplication, Hydronephrosis	OMIM:104350
Cockayne Syndrome Type 1	Optic atrophy, Hypermelanotic macule, Absent brainstem auditory responses, Abnormality of periphe...	ORPHA:90321
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies	Secundum atrial septal defect	OMIM:620194
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Hydrocephalus	OMIM:613330
Microcephaly 30, Primary, Autosomal Recessive	Secundum atrial septal defect	OMIM:620183
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome	Abnormal mitral valve morphology, Atrial septal defect	ORPHA:1292
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Atrial septal defect, Peripheral pulmonary artery stenosis	OMIM:614749
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Hydrocephalus, Abnormal renal morphology, Aganglionic megacolon	OMIM:239300
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Pancreatic lymphangiectasis, Hepatosplenomegaly, Splenomegaly, Pulmonary lymphangie...	ORPHA:1655
Xeroderma Pigmentosum, Complementation Group A	Defective DNA repair after ultraviolet radiation damage	OMIM:278700
Cutis Laxa, Autosomal Recessive, Type Iiia	Brachycephaly, Frontal bossing	OMIM:219150
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	Vascular dilatation, Aortic aneurysm, Arterial dissection, Aortic dissection, Abnormal venous mor...	ORPHA:1900
B4Galt1-Cdg	Hydrocephalus, Dandy-Walker malformation	ORPHA:79332
Lowry-Maclean Syndrome	Hydrocephalus, Hypospadias	ORPHA:2409
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Atrial septal defect, Patent foramen ovale	OMIM:619184
Spondylocostal Dysostosis 4, Autosomal Recessive	Hydrocephalus, Neurogenic bladder, Spina bifida occulta, Myelomeningocele	OMIM:613686
Mitochondrial Trifunctional Protein Deficiency	Pigmentary retinopathy	ORPHA:746
Abnormal Hair, Joint Laxity, And Developmental Delay	Plagiocephaly, Sinus bradycardia, Mitral regurgitation, Tricuspid regurgitation	OMIM:261990
Developmental And Epileptic Encephalopathy 110	Posterior plagiocephaly	OMIM:620149
Farber Disease	Macular degeneration, Cherry red spot of the macula	ORPHA:333
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Ventricular septal defect	OMIM:617895
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Brachycephaly, Hypertrophic cardiomyopathy	OMIM:616897
Adams-Oliver Syndrome 1	Pulmonic stenosis, Aortic valve stenosis, Pulmonary artery stenosis, Tetralogy of Fallot, Bicuspi...	OMIM:100300
Distal Xq28 Microduplication Syndrome	Patent foramen ovale, Patent ductus arteriosus	ORPHA:293939
Houge-Janssens Syndrome 1	Hydrocephalus, Ventriculomegaly	OMIM:616355
Velocardiofacial Syndrome	Right aortic arch with mirror image branching, Interrupted aortic arch, Pulmonary artery atresia,...	OMIM:192430
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Frontal bossing, Plagiocephaly	ORPHA:371364
X-Linked Intellectual Disability, Golabi-Ito-Hall Type	Atrial septal defect	ORPHA:93947
Mesomelic Dysplasia, Nievergelt Type	Brachycephaly, Dolichocephaly	ORPHA:2633
X-Linked Intellectual Disability, Wilson Type	Brachycephaly	ORPHA:85290
Digeorge Syndrome	Right aortic arch with mirror image branching, Anemia, Unilateral renal agenesis, Cholelithiasis,...	OMIM:188400
Full Nf2-Related Schwannomatosis	Retinal hamartoma, Hydrocephalus, Facial palsy, Abnormal optic nerve morphology, Remnants of the ...	ORPHA:637
Axenfeld-Rieger Syndrome, Type 2	Hydrocephalus, Hypospadias	OMIM:601499
Koolen-De Vries Syndrome	Aortic root aneurysm, Pulmonic stenosis, Patent ductus arteriosus, Bicuspid aortic valve, Atrial ...	OMIM:610443
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Hydrocephalus, Optic atrophy, Retinopathy	ORPHA:220295
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Pigmentary retinopathy	ORPHA:71212
Severe X-Linked Intellectual Disability, Gustavson Type	Ventricular septal defect	ORPHA:3078
Tarp Syndrome	Atrial septal defect, Tetralogy of Fallot, Subdural hemorrhage	OMIM:311900
Heart And Brain Malformation Syndrome	Interrupted aortic arch, Ventricular septal defect	OMIM:616920
Carnitine-Acylcarnitine Translocase Deficiency	Oliguria, Dicarboxylic aciduria	ORPHA:159
Hallermann-Streiff Syndrome	Brachycephaly, Hypertension, Pulmonary arterial hypertension, Frontal bossing, Parietal bossing, ...	OMIM:234100
Fanconi Anemia	Aganglionic megacolon, Hydroureter, Hypospadias, Abnormal preputium morphology, Azoospermia, Hydr...	ORPHA:84
Lujo Hemorrhagic Fever	Oliguria, Renal insufficiency, Dysphagia, Microscopic hematuria	ORPHA:319213
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Hyposmia	OMIM:618653
Contractures-Developmental Delay-Pierre Robin Syndrome	Atrial septal defect, Peripheral pulmonary artery stenosis	ORPHA:436003
17Q23.1Q23.2 Microdeletion Syndrome	Atrial septal defect, Patent ductus arteriosus	ORPHA:261279
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Hydrocephalus, Optic atrophy	OMIM:618590
Osteopetrosis, Autosomal Recessive 7	Hydrocephalus, Optic atrophy, Optic nerve compression, Lateral ventricle dilatation	OMIM:612301
H Syndrome	Abnormality of the kidney, Enlarged kidney, Azoospermia, Hydrocephalus, Micropenis	ORPHA:168569
Livedoid Vasculopathy	Ischemic stroke, Abnormal capillary morphology, Anemia, Pancytopenia, Venous insufficiency, Leuko...	ORPHA:542643
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Coronary artery fistula, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus	OMIM:620024
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities	Secundum atrial septal defect	OMIM:620242
Autoimmune Polyendocrine Syndrome, Type Ii	Cirrhosis, Iron deficiency anemia, Asplenia, Chronic hepatitis, Exocrine pancreatic insufficiency...	OMIM:269200
Xeroderma Pigmentosum, Complementation Group D	Defective DNA repair after ultraviolet radiation damage	OMIM:278730
Hoxha-Aliu Syndrome	Atrial septal defect, Perimembranous ventricular septal defect	OMIM:620662
Kabuki Syndrome 2	Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect, Coarctation of aorta	OMIM:300867
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Retinal arterial tortuosity, Hydranencephaly, Hydrocephalus, Retinal detachment, Dilated third ve...	OMIM:620371
7Q31 Microdeletion Syndrome	Patent ductus arteriosus after birth at term, Atrial septal defect	ORPHA:251061
Functioning Gonadotropic Adenoma	Hydrocephalus, Oligozoospermia, Ovarian cyst, Enlarged polycystic ovaries	ORPHA:91348
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities	Secundum atrial septal defect, Hypertrophic cardiomyopathy	OMIM:619121
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Hydrocephalus, Optic atrophy	ORPHA:1555
Dysosteosclerosis	Ventricular septal defect	ORPHA:1782
Lig4 Syndrome	Brachycephaly, Telangiectasia of the skin, Biparietal narrowing	ORPHA:99812
Ogden Syndrome	Pulmonary artery stenosis, Ventricular septal defect	ORPHA:276432
Tetraamelia Syndrome 1	Asplenia, Renal agenesis, Micrognathia, Tetraamelia, Urethral atresia	OMIM:273395
Congenital Disorder Of Glycosylation, Type Iq	Brachycephaly	OMIM:612379
Fraser Syndrome 3	Hypoplasia of penis, Hydrocephalus, Bilateral renal agenesis, Ureteral agenesis, Hypoplasia of th...	OMIM:617667
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Ventricular septal defect	ORPHA:1770
Wiedemann-Steiner Syndrome	Atrial septal defect, Patent ductus arteriosus	OMIM:605130
Costello Syndrome	Pulmonic stenosis, Hypertrophic cardiomyopathy, Ventricular septal defect, Mitral valve prolapse	ORPHA:3071
Frontonasal Dysplasia 2	Brachycephaly, Parietal foramina, Anterior plagiocephaly, Craniosynostosis, Calvarial skull defect	OMIM:613451
Meningioma	Abnormality of the sense of smell	ORPHA:2495
Loeys-Dietz Syndrome 5	Aortic root aneurysm, Patent foramen ovale, Ascending aortic dissection, Atrial septal defect, Ve...	OMIM:615582
Ritscher-Schinzel Syndrome 4	Brachycephaly, Plagiocephaly	OMIM:619435
Filippi Syndrome	Ventricular septal defect	ORPHA:3255
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Atrial septal defect	ORPHA:2728
Townes-Brocks Syndrome 1	Hypospadias, Short metatarsal, Renal insufficiency, Vesicoureteral reflux, Renal hypoplasia, Uret...	OMIM:107480
Brachytelephalangic Chondrodysplasia Punctata	Pulmonary artery stenosis, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus	ORPHA:79345
Atypical Werner Syndrome	Delayed puberty, Premature ovarian insufficiency, Secondary amenorrhea, Decreased body weight, Sh...	ORPHA:79474
Zaki Syndrome	Patent foramen ovale, Patent ductus arteriosus	OMIM:619648
Distal 22Q11.2 Microduplication Syndrome	Hydrocephalus, Attention deficit hyperactivity disorder, Unilateral renal agenesis, Optic disc co...	ORPHA:261337
Chromosome 8Q21.11 Deletion Syndrome	Pigmentary retinopathy	OMIM:614230
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Pulmonic stenosis, Patent ductus arteriosus, Bicuspid aortic valve, Atrial septal defect, Ventric...	OMIM:610759
16P13.11 Microdeletion Syndrome	Atrial septal defect, Ventricular septal defect	ORPHA:261236
Lipoid Proteinosis	Nasal polyposis	ORPHA:530
Focal Facial Dermal Dysplasia Type Iv	Hydrocephalus	ORPHA:398189
Alport Syndrome	Macular degeneration, Retinal flecks	ORPHA:63
Immunodeficiency 87 And Autoimmunity	Autoimmune hemolytic anemia, Atrial septal defect, Jaundice, Hepatomegaly, Decreased CD4:CD8 rati...	OMIM:619573
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Premature ovarian insufficiency, Secondary amenorrhea, Hypergonadotropic hypogonadism, Oligomenor...	ORPHA:572333
Acquired Aneurysmal Subarachnoid Hemorrhage	Hydrocephalus, Increased CSF lactate, Addictive alcohol use, Hyperglycorrhachia	ORPHA:90065
Bohring-Opitz Syndrome	Atrial septal defect, Hyperechogenic pancreas, Ventricular septal defect	OMIM:605039
Kabuki Syndrome	Renal hypoplasia/aplasia, Hypospadias, Duplicated collecting system, Hypoplasia of penis, Hydroce...	ORPHA:2322
Occipital Horn Syndrome	Abnormality of the sense of smell	ORPHA:198
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Atrioventricular canal defect, Ascending tubular aorta aneurysm, Abnormal heart morphology, Bicus...	ORPHA:453499
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
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Anemia, Interrupted aortic arch, Thrombocytopenia, Intracranial hemorrhage, Patent ductus arterio...	ORPHA:163979
Distal Duplication 5Q	Ventricular septal defect, Dextrocardia, Aplasia/Hypoplasia of the gallbladder	ORPHA:96097
Osteootohepatoenteric Syndrome	Hydrocephalus, Grade II vesicoureteral reflux, Proteinuria	OMIM:619377
Congenital Disorder Of Glycosylation, Type Iie	Perimembranous ventricular septal defect, Jaundice, Hepatomegaly, Secundum atrial septal defect, ...	OMIM:608779
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Hydrocephalus, Urinary incontinence	OMIM:616482
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Hydrocephalus	ORPHA:2180
Ramon Syndrome	Optic disc pallor, Pigmentary retinopathy	OMIM:266270
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Bicuspid aortic valve, Aortic root aneurysm, Patent foramen ovale, Mitral valve prolapse, Left ve...	OMIM:245600
Chromosome 10Q26 Deletion Syndrome	Atrial septal defect, Patent ductus arteriosus	OMIM:609625
Spondyloepimetaphyseal Dysplasia, Krakow Type	Atrial septal defect, Annular pancreas, Patent ductus arteriosus	OMIM:618162
Alexander Disease	Aqueductal stenosis, Hydrocephalus, Facial palsy, Abnormal autonomic nervous system physiology, D...	ORPHA:58
Richieri-Costa/Guion-Almeida Syndrome	Brachycephaly	OMIM:268850
Down Syndrome	Atrioventricular canal defect, Leukemia, Abnormality of the lymphatic system, Polycythemia, Neutr...	ORPHA:870
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Agitation, Hematuria, Hypospadias, Restrictive behavior, Hydrocephalus, Hyperactivity, Compulsive...	OMIM:619475
Coffin-Siris Syndrome 4	Pulmonary artery atresia, Mitral atresia, Pulmonic stenosis, Patent ductus arteriosus, Atrial sep...	OMIM:614609
Menkes Disease	Abnormal carotid artery morphology, Vascular dilatation, Venous insufficiency, Prolonged neonatal...	ORPHA:565
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies	Anemia, Patent ductus arteriosus, Pancytopenia, Aortic root aneurysm, Ventricular hypertrophy, Pu...	OMIM:620654
Hyperparathyroidism, Transient Neonatal	Enlarged kidney, Unilateral renal agenesis, Communicating hydrocephalus, Ovarian cyst, Ventriculo...	OMIM:618188
Osteopetrosis, Autosomal Recessive 5	Optic atrophy, Hydrocephalus, Facial palsy, Ventriculomegaly, Optic disc pallor	OMIM:259720
Amoebiasis Due To Free-Living Amoebae	Hyposmia	ORPHA:68
White-Sutton Syndrome	Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus	OMIM:616364
Lethal Kniest-Like Dysplasia	Atrial septal defect	ORPHA:2347
Opitz Gbbb Syndrome	Aortic root aneurysm, Patent foramen ovale, Coarctation of aorta, Abnormal heart morphology, Pate...	ORPHA:2745
Smith-Magenis Syndrome	Brachycephaly, Frontal bossing	ORPHA:819
Cutis Laxa, Autosomal Recessive, Type Iib	Hydrocephalus, Agenesis of corpus callosum	OMIM:612940
Xq21 Microdeletion Syndrome	Abnormal chorioretinal morphology, Optic atrophy, Chorioretinal degeneration, Choroideremia, Reti...	ORPHA:1435
Neurocardiofaciodigital Syndrome	Atrial septal defect, Tetralogy of Fallot, Double inlet left ventricle, Patent ductus arteriosus	OMIM:619869
Hyperphosphatasia-Intellectual Disability Syndrome	Brachycephaly, Abnormal parietal bone morphology, Plagiocephaly, Telangiectasia	ORPHA:247262
Lymphatic Malformation 13	Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus	OMIM:620244
Otopalatodigital Syndrome Type 2	Hypospadias, Encephalocele, Hydrocephalus, Myelomeningocele, Ureteral obstruction, Hydronephrosis	ORPHA:90652
Basel-Vanagaite-Smirin-Yosef Syndrome	Left superior vena cava draining to coronary sinus, Atrial septal defect, Ventricular septal defe...	ORPHA:464738
Holoprosencephaly-Postaxial Polydactyly Syndrome	Renal hypoplasia/aplasia, Hypospadias, Encephalocele, Hypoplasia of penis, Hydrocephalus, Holopro...	ORPHA:2166
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Atrial septal defect, Thrombocytopenia	ORPHA:457351
Lead Poisoning	Abnormal T cell morphology, Imbalanced hemoglobin synthesis, Anemia	ORPHA:330015
Cerebrooculonasal Syndrome	Brachycephaly	ORPHA:66625
Wieacker-Wolff Syndrome, Female-Restricted	Brachycephaly	OMIM:301041
Icf Syndrome	Abnormality of chromosome stability, Communicating hydrocephalus	ORPHA:2268
Craniopharyngioma	Hydrocephalus, Optic atrophy, Papilledema, Polyphagia	ORPHA:54595
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation	Flat occiput, Brachycephaly	OMIM:618797
Oeis Complex	Epispadias, Hydroureter, Duplicated collecting system, Vesicovaginal fistula, Hydrocephalus, Pelv...	OMIM:258040
Kleefstra Syndrome Due To A Point Mutation	Brachycephaly, Plagiocephaly	ORPHA:261652
Proteus Syndrome	Enlarged kidney, Arteriovenous malformation, Venous malformation, Long penis, Abnormal dental ena...	ORPHA:744
Chédiak-Higashi Syndrome	Decreased nerve conduction velocity, Hypopigmentation of hair, Hypopigmentation of the skin, Larg...	ORPHA:167
Galloway-Mowat Syndrome 4	Plagiocephaly	OMIM:617730
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Autoimmune hemolytic anemia, Dilatation of the cerebral artery, B lymphocytopenia, Neutropenia in...	ORPHA:391487
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Coronal craniosynostosis, Frontal bossing, Lambdoidal craniosynostosis, Brachycephaly	OMIM:207410
Bardet-Biedl Syndrome	Rhinitis, Prominent nasal bridge, Depressed nasal bridge, Abnormality of the sense of smell	ORPHA:110
Alzahrani-Kuwahara Syndrome	Patent foramen ovale, Coronary sinus enlargement, Persistent left superior vena cava, Atrial sept...	OMIM:619268
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Decreased distal sensory nerve action potential, Abnormality of peripheral somatosensory evoked p...	ORPHA:466768
Arthrogryposis, Distal, Type 4	Cranial asymmetry	OMIM:609128
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Ventricular septal defect, Patent ductus arteriosus	OMIM:300472
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Anuria, Fetal megacystis, Renal cortical hyperechogenicity, Megacystis, Pyelonephritis	OMIM:619351
Sepsis In Premature Infants	Oliguria, Reversible renal failure	ORPHA:90051
Distal Deletion 19P	Pulmonary valve atresia, Tricuspid valve prolapse, Ventricular septal defect	ORPHA:96129
Martsolf Syndrome 1	Brachycephaly, Congestive heart failure, Cardiac arrest, Cardiomyopathy	OMIM:212720
Bohring-Opitz Syndrome	Optic atrophy, Retinal atrophy	ORPHA:97297
Monosomy 13Q34	Pulmonic stenosis, Common atrium, Hepatic steatosis	ORPHA:96168
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Hypoplasia of penis, Short ribs, Renal cyst, Micromelia, Renal hypoplasia, Urethrovaginal fistula...	ORPHA:93271
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Intraventricular hemorrhage, Turricephaly, Plagiocephaly, Frontal bossing	OMIM:613603
Griscelli Syndrome	Hydrocephalus, Encephalocele	ORPHA:381
Oculocerebrocutaneous Syndrome	Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	ORPHA:1647
Hydrocephalus, Congenital, 4	Ventriculomegaly, Communicating hydrocephalus	OMIM:618667
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type	Brachycephaly	OMIM:300260
Mucopolysaccharidosis, Type Vii	Hydrocephalus, Urinary glycosaminoglycan excretion, Heparan sulfate excretion in urine, Dermatan ...	OMIM:253220
Ellis-Van Creveld Syndrome	Common atrium, Atrial septal defect	OMIM:225500
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type	Atrial septal defect, Ventricular septal defect	OMIM:620663
Distal Deletion 10Q	Atrial septal defect, Patent ductus arteriosus	ORPHA:96148
Hydrocephalus, Congenital, 5, Susceptibility To	Aqueductal stenosis, Noncommunicating hydrocephalus	OMIM:620241
Cryptococcosis	Hydrocephalus, Abnormal cranial nerve morphology, Abnormal optic nerve morphology, Abnormal retin...	ORPHA:1546
Acrofrontofacionasal Dysostosis 2	Brachycephaly	OMIM:239710
Familial Idiopathic Dilatation Of The Right Atrium	Hepatomegaly, Abnormal jugular vein morphology, Abnormal vena cava morphology, Atrial septal dila...	ORPHA:1677
Lateral Meningocele Syndrome	Hydrocephalus, Neurogenic bladder, Meningocele	OMIM:130720
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Brachycephaly	OMIM:620073
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Dysplastic pulmonary valve, Ventricular septal defect	OMIM:619103
Trisomy 8P	Hydrocephalus, Dandy-Walker malformation, Nephrocalcinosis, Hydronephrosis, Fetal pyelectasis, Ag...	ORPHA:264450
Intellectual Developmental Disorder, Autosomal Dominant 64	Plagiocephaly	OMIM:619188
Temtamy Preaxial Brachydactyly Syndrome	Plagiocephaly	OMIM:605282
Noonan Syndrome	Juvenile myelomonocytic leukemia, Hepatomegaly, Abnormality of the lymphatic system, Hypertrophic...	ORPHA:648
Xerosis And Growth Failure With Immune And Pulmonary Dysfunction Syndrome	Atrial septal defect, Left ventricular hypertrophy	OMIM:620510
Abetalipoproteinemia	Hypopigmentation of the fundus, Abnormality of retinal pigmentation, Rod-cone dystrophy	ORPHA:14
Distal 22Q11.2 Microdeletion Syndrome	Atrial septal defect, Truncus arteriosus, Ventricular septal defect, Aortic aneurysm	ORPHA:261330
Vici Syndrome	Atrial septal defect, Cardiomyopathy, T lymphocytopenia, Left ventricular hypertrophy, Decreased ...	OMIM:242840
Osteopetrosis With Renal Tubular Acidosis	Optic atrophy, Cranial nerve compression, Retinal atrophy, Abnormal retinal morphology	ORPHA:2785
Pfeiffer Syndrome Type 1	Bicoronal synostosis, Brachycephaly	ORPHA:93258
Oculocerebrofacial Syndrome, Kaufman Type	Flat occiput, Brachycephaly	ORPHA:2707
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Brachycephaly	ORPHA:404440
Say-Barber-Miller Syndrome	Optic atrophy, Macular degeneration, Rod-cone dystrophy	ORPHA:3132
Apert Syndrome	Hydrocephalus, Ventriculomegaly, Hydronephrosis, Agenesis of corpus callosum	OMIM:101200
Alg9-Cdg	Atrial septal defect, Hepatomegaly, Periportal fibrosis, Abnormal left ventricular outflow tract ...	ORPHA:79328
Microphthalmia With Limb Anomalies	Fibular hypoplasia, Venous insufficiency, Finger aplasia, Hypoplasia of the maxilla, Micrognathia...	ORPHA:1106
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
Infection-Related Hemolytic Uremic Syndrome	Acute kidney injury, Anuria, Nephrotic range proteinuria, Oliguria, Decreased urine output	ORPHA:544482
Lig4 Syndrome	Brachycephaly, Telangiectasia	OMIM:606593
Opitz-Kaveggia Syndrome	Hydrocephalus, Attention deficit hyperactivity disorder, Hypospadias, Partial agenesis of the cor...	OMIM:305450
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Pulmonary artery stenosis, Ventricular septal defect	OMIM:611812
Craniometadiaphyseal Osteosclerosis With Hip Dysplasia	Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus	OMIM:620558
X-Linked Intellectual Disability Due To Gria3 Mutations	Brachycephaly	ORPHA:364028
Complete Androgen Insensitivity Syndrome	Delayed puberty, Male infertility, Primary amenorrhea	ORPHA:99429
Amelocerebrohypohidrotic Syndrome	Hydrocephalus	ORPHA:1946
Coffin-Siris Syndrome	Abnormal heart morphology, Tetralogy of Fallot, Patent ductus arteriosus, Hepatoblastoma, Atrial ...	ORPHA:1465
Cockayne Syndrome B	Optic atrophy, Normal pressure hydrocephalus, Decreased nerve conduction velocity, Renal insuffic...	OMIM:133540
48,Xxxy Syndrome	Brachycephaly, Pulmonary embolism	ORPHA:96263
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations	Valvular pulmonary stenosis, Patent foramen ovale, Bicuspid aortic valve, Atrial septal defect, P...	OMIM:300707
Sacral Defect With Anterior Meningocele	Myeloschisis, Meningocele, Hydrocephalus, Neurogenic bladder, Dermal sinus tract, Myelomeningocel...	OMIM:600145
Cousin Syndrome	Hydrocephalus, Hydronephrosis, Hydranencephaly	OMIM:260660
Developmental And Epileptic Encephalopathy 84	Plagiocephaly	OMIM:618792
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Plagiocephaly, Hypertrophic cardiomyopathy, Arrhythmia	OMIM:615471
Trichothiodystrophy 4, Nonphotosensitive	Ventricular septal defect	OMIM:234050
Mitochondrial Dna-Associated Leigh Syndrome	Optic atrophy, Rod-cone dystrophy, Pigmentary retinopathy	ORPHA:255210
Momo Syndrome	Brachycephaly, Frontal bossing	OMIM:157980
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Delayed puberty, Male infertility, Failure to thrive, Primary amenorrhea, Male hypogonadism, Decr...	ORPHA:90793
21Q22.11Q22.12 Microdeletion Syndrome	Atrial septal defect, Thrombocytopenia, Anemia	ORPHA:261323
16Q24.3 Microdeletion Syndrome	Increased mean corpuscular volume, Dilated cardiomyopathy, Ventricular septal defect, Thrombocyto...	ORPHA:261250
Trisomy 18	Abnormality of retinal pigmentation	ORPHA:3380
Microcephaly 26, Primary, Autosomal Dominant	Patent foramen ovale	OMIM:619179
Acrofrontofacionasal Dysostosis	Brachycephaly	ORPHA:1784
Joubert Syndrome	Hydrocephalus, Aganglionic megacolon, Encephalocele	ORPHA:475
Bloom Syndrome	Premature ovarian insufficiency, Male infertility, Azoospermia, Severe postnatal growth retardati...	ORPHA:125
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Anemia, Abnormal hemoglobin	ORPHA:847
Cartilage-Hair Hypoplasia	Abnormality of retinal pigmentation, Aganglionic megacolon	ORPHA:175
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Urinary incontinence, Pulmonic stenosis, Aortic valve stenosis, Abnormal jaw morphology, Abnormal...	ORPHA:261552
Achondrogenesis, Type Ii	Brachycephaly, Frontal bossing	OMIM:200610
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Hydrocephalus	OMIM:300863
Kaufman Oculocerebrofacial Syndrome	Atrial septal defect, Ventricular septal defect, Coarctation of aorta	OMIM:244450
Dubowitz Syndrome	Hypospadias, Spina bifida occulta, Hydrocephalus, Hydronephrosis, Attention deficit hyperactivity...	ORPHA:235
49,Xxxxy Syndrome	Brachycephaly, Pulmonary embolism	ORPHA:96264
Isolated Posterior Meningocele	Neural tube defect, Meningocele, Hydrocephalus, Lipomyelomeningocele, Enuresis, Occipital meningo...	ORPHA:268810
Gaucher Disease	Hematuria, Hydrocephalus, Retinopathy, Proteinuria, Cherry red spot of the macula, Dysphagia, Ven...	ORPHA:355
Duane-Radial Ray Syndrome	Atrial septal defect, Ventricular septal defect, Vascular dilatation	OMIM:607323
Frontofacionasal Dysplasia	Brachycephaly	ORPHA:1791
Turner Syndrome Due To Structural X Chromosome Anomalies	Postnatal growth retardation, Delayed puberty, Premature ovarian insufficiency, Secondary amenorr...	ORPHA:99413
Angelman Syndrome	Flat occiput, Brachycephaly	OMIM:105830
Mosaic Monosomy X	Postnatal growth retardation, Delayed puberty, Premature ovarian insufficiency, Secondary amenorr...	ORPHA:99228
Monosomy X	Postnatal growth retardation, Delayed puberty, Premature ovarian insufficiency, Secondary amenorr...	ORPHA:99226
Turner Syndrome	Postnatal growth retardation, Delayed puberty, Premature ovarian insufficiency, Secondary amenorr...	ORPHA:881
Mowat-Wilson Syndrome	Urinary incontinence, Pulmonic stenosis, Aortic valve stenosis, Abnormal heart morphology, Bicusp...	ORPHA:2152
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Urinary incontinence, Pulmonic stenosis, Aortic valve stenosis, Abnormal heart morphology, Bicusp...	ORPHA:261537
Chromosome 1P36 Deletion Syndrome, Distal	Optic atrophy, Ectopic kidney, Hypospadias, Hydrocephalus, Polyphagia, Oppositional defiant disor...	OMIM:607872
Oculoectodermal Syndrome	Transient ischemic attack, Hypertrophic cardiomyopathy, Coarctation of aorta, Patent ductus arter...	OMIM:600268
Holoprosencephaly 9	Alobar holoprosencephaly, Hydrocephalus, Lateral ventricular asymmetry, Optic nerve hypoplasia, O...	OMIM:610829
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Patent foramen ovale, Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, R...	OMIM:300967
Linear Nevus Sebaceus Syndrome	Frontal bossing, Plagiocephaly, Biparietal narrowing, Prominent occiput	ORPHA:2612
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features	Plagiocephaly	OMIM:616579
Attenuated Familial Adenomatous Polyposis	Multiple renal cysts	ORPHA:220460
Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome	Brachycephaly	ORPHA:562528
Bardet-Biedl Syndrome 20	Atrial septal defect, Pancreatitis	OMIM:619471
Wilson Disease	Hyposmia	OMIM:277900
Genitopatellar Syndrome	Multicystic kidney dysplasia, Delayed eruption of teeth, Micrognathia, Hydronephrosis, Patellar a...	OMIM:606170
Anauxetic Dysplasia 3	Plagiocephaly	OMIM:618853
Raine Syndrome	Hydrocephalus, Hydronephrosis, Hydroureter	OMIM:259775
Trisomy 9P	Brachycephaly	ORPHA:236
Warburg Micro Syndrome 4	Brachycephaly	OMIM:615663
Cornelia De Lange Syndrome	Hypospadias, Multicystic kidney dysplasia, Hypoplasia of penis, Delayed eruption of teeth, Vesico...	ORPHA:199
Hypoplasminogenemia	Hydrocephalus, Dandy-Walker malformation, Nephrolithiasis	ORPHA:722
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Brachycephaly, Plagiocephaly, Parietal foramina, Coronal craniosynostosis, Frontal bossing	ORPHA:85199
Colchicine Poisoning	Oliguria, Renal insufficiency	ORPHA:31824
Eisenmenger Syndrome	Hepatomegaly, Hypochromic microcytic anemia, Iron deficiency anemia, Atrioventricular canal defec...	ORPHA:97214
Iniencephaly	Anencephaly, Encephalocele, Hydrocephalus, Dandy-Walker malformation, Myelomeningocele, Spina bif...	ORPHA:63259
Codas Syndrome	Atrial septal defect, Atrioventricular canal defect, Ventricular septal defect	OMIM:600373
Hypothyroidism, Congenital, Nongoitrous, 5	Patent foramen ovale	OMIM:225250
Osteogenesis Imperfecta, Type Xx	Brachycephaly, Plagiocephaly	OMIM:618644
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Hydrocephalus, Renal neoplasm, Peripapillary atrophy	ORPHA:536467
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Plagiocephaly	ORPHA:2063
Noonan Syndrome With Multiple Lentigines	Brachycephaly, Hypertrophic cardiomyopathy, Pulmonic stenosis, Bundle branch block, Arrhythmia, M...	ORPHA:500
X Small Rings	Bicuspid aortic valve, Mitral stenosis, Ventricular septal defect, Aortic root aneurysm	ORPHA:96201
Tarp Syndrome	Persistent left superior vena cava, Atrial septal defect, Extramedullary hematopoiesis, Tetralogy...	ORPHA:2886
Cerebrooculonasal Syndrome	Encephalocele, Hydrocephalus, Optic nerve hypoplasia, Dandy-Walker malformation, Ventriculomegaly	OMIM:605627
9Q33.3Q34.11 Microdeletion Syndrome	Brachycephaly, Plagiocephaly, Epistaxis, Telangiectasia	ORPHA:495818
Van Esch-O'Driscoll Syndrome	Pulmonary artery stenosis, Pulmonary valve atresia, Atrial septal defect, Ventricular septal defect	OMIM:301030
Dihydropyrimidinase Deficiency	Plagiocephaly	OMIM:222748
Marshall Syndrome	Brachycephaly, Frontal bossing, Thickened calvaria	ORPHA:560
Liver Disease, Severe Congenital	Left atrial enlargement, Lymphocytosis, Biliary hyperplasia, Leukopenia, Splenomegaly, Cardiomega...	OMIM:619991
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	HbH hemoglobin, Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio	OMIM:301040
Acrodysostosis	Brachycephaly, Frontal bossing	ORPHA:950
Gorlin-Chaudhry-Moss Syndrome	Coronal craniosynostosis, Brachycephaly	ORPHA:2095
Craniosynostosis And Dental Anomalies	Brachycephaly, Turricephaly, Lambdoidal craniosynostosis, Trigonocephaly, Frontal bossing, Corona...	OMIM:614188
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Atrial septal defect, Patent ductus arteriosus	OMIM:300968
Congenital Disorder Of Glycosylation, Type Iit	Brachycephaly	OMIM:618885
Juvenile Polyposis Of Infancy	Anemia, Abnormal heart morphology, Patent ductus arteriosus, Atrial septal defect, Refractory anemia	ORPHA:79076
Chilton-Okur-Chung Neurodevelopmental Syndrome	Hypospadias, Recurrent urinary tract infections, Septo-optic dysplasia, Communicating hydrocephal...	OMIM:619841
Melas	Optic atrophy, Vitiligo, Pigmentary retinopathy	ORPHA:550
Orofaciodigital Syndrome V	Ventricular septal defect, Tetralogy of Fallot	OMIM:174300
Weill-Marchesani Syndrome 1	Brachycephaly, Broad skull, Pulmonic stenosis, Aortic valve stenosis, Mitral regurgitation	OMIM:277600
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Unilateral renal agenesis, Hypospadias, Hydrocephalus, Abnormality of the urinary system, Vesicou...	ORPHA:95699
Mucopolysaccharidosis Type 2, Severe Form	Optic atrophy, Retinopathy, Abnormal foveal morphology, Papilledema, Abnormality of retinal pigme...	ORPHA:217085
Adenylosuccinase Deficiency	Brachycephaly	OMIM:103050
Cree Mental Retardation Syndrome	Brachycephaly	OMIM:606851
Chromosome 13Q33-Q34 Deletion Syndrome	Pulmonic stenosis, Trigonocephaly, Brachycephaly	OMIM:619148
Diamond-Blackfan Anemia 21	Thrombocytopenia, Secundum atrial septal defect, Anemia, Erythroid hypoplasia	OMIM:620072
Thanatophoric Dysplasia, Type I	Hydrocephalus	OMIM:187600
Warburg Micro Syndrome 3	Brachycephaly	OMIM:614222
Mucopolysaccharidosis Type 2, Attenuated Form	Optic atrophy, Retinopathy, Abnormal foveal morphology, Papilledema, Abnormality of retinal pigme...	ORPHA:217093
Marbach-Schaaf Neurodevelopmental Syndrome	Plagiocephaly	OMIM:619680
Chromosome 2P16.1-P15 Deletion Syndrome	Brachycephaly	OMIM:612513
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Brachycephaly, Skull asymmetry	OMIM:614701
Mucolipidosis Type Ii	Abnormal aortic valve morphology, Patent foramen ovale, Cardiomyopathy, Abnormal mitral valve mor...	ORPHA:576
Multiple Pterygium-Malignant Hyperthermia Syndrome	Plagiocephaly, Dolichocephaly	ORPHA:2215
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Retinal pigment epithelial mottling	OMIM:607459
Schimmelpenning-Feuerstein-Mims Syndrome	Cranial asymmetry	OMIM:163200
Chromosome 17P13.1 Deletion Syndrome	Brachycephaly, Plagiocephaly, Turricephaly	OMIM:613776
Intellectual Developmental Disorder, Autosomal Dominant 1	Brachycephaly, Frontal bossing	OMIM:156200
Combined Oxidative Phosphorylation Deficiency 3	Hepatomegaly, Concentric hypertrophic cardiomyopathy, Patent foramen ovale, Patent ductus arterio...	OMIM:610505
Cole-Carpenter Syndrome 1	Hydrocephalus, Communicating hydrocephalus	OMIM:112240
Intellectual Developmental Disorder, Autosomal Dominant 58	Plagiocephaly	OMIM:618106
Proximal Spinal Muscular Atrophy	Atrial septal defect	ORPHA:70
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Hydrocephalus	ORPHA:163966
Mgat2-Cdg	Ventricular septal defect, Abnormal heart morphology, Impaired lymphocyte transformation with phy...	ORPHA:79329
Robinow Syndrome, Autosomal Dominant 3	Patent foramen ovale, Pulmonary artery atresia, Patent ductus arteriosus, Hypoplastic right heart...	OMIM:616894
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum	Frontal bossing, Plagiocephaly	OMIM:617193
Combined Immunodeficiency-Enteropathy Spectrum	Autoimmune hemolytic anemia, Peritoneal abscess, Ventricular septal defect, Hypoplasia of the thy...	ORPHA:436252
Ramos-Arroyo Syndrome	Atrial septal defect, Patent ductus arteriosus	ORPHA:1051
2Q31.1 Microdeletion Syndrome	Atrial septal defect, Ventricular septal defect	ORPHA:251014
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Frontal bossing, Dolichocephaly, Plagiocephaly, Decreased heart rate variability	OMIM:619005
3Mc Syndrome 1	Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus	OMIM:257920
Diaphragmatic Hernia 4, With Cardiovascular Defects	Hepatomegaly, Aortic root aneurysm, Aortopulmonary window, Pulmonary artery hypoplasia, Aortopulm...	OMIM:620025
20Q11.2 Microduplication Syndrome	Trigonocephaly, Brachycephaly	ORPHA:363659
Hand-Foot-Genital Syndrome	Ventricular septal defect	ORPHA:2438
Neonatal Lupus Erythematosus	Hydrocephalus	ORPHA:398124
Cole-Carpenter Syndrome 2	Hydrocephalus	OMIM:616294
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Plagiocephaly, Dolichocephaly, Mitral regurgitation, Tricuspid regurgitation	ORPHA:1101
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Atrial septal defect, Patent ductus arteriosus	OMIM:614080
Momo Syndrome	Brachycephaly, Frontal bossing	ORPHA:2563
Nijmegen Breakage Syndrome	Cafe-au-lait spot, Retinal pigment epithelial mottling, Progressive vitiligo	OMIM:251260
Specc1L-Related Hypertelorism Syndrome	Atrial septal defect, Ventricular septal defect, Tetralogy of Fallot, Patent ductus arteriosus	ORPHA:1519
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Hydrocephalus, Ventriculomegaly, Agenesis of corpus callosum, Encephalocele	OMIM:613150
Lenz-Majewski Hyperostotic Dwarfism	Epispadias, Hypospadias, Hydrocephalus, Facial palsy, Agenesis of corpus callosum, Abnormal penis...	ORPHA:2658
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Optic atrophy, Cone/cone-rod dystrophy, Optic disc pallor, Pigmentary retinopathy	ORPHA:404454
Alstrom Syndrome	Cone/cone-rod dystrophy, Attenuation of retinal blood vessels, Pigmentary retinopathy	OMIM:203800
De Barsy Syndrome	Hypoplastic aortic arch, Prominent veins on trunk, Patent ductus arteriosus, Persistent left supe...	ORPHA:2962
Loeys-Dietz Syndrome 3	Dilatation of the cerebral artery, Arterial tortuosity, Patent ductus arteriosus, Aortic aneurysm...	OMIM:613795
Chromosome 14Q11-Q22 Deletion Syndrome	Patent foramen ovale, Ventricular septal defect, Patent ductus arteriosus	OMIM:613457
Loeys-Dietz Syndrome 1	Pulmonary artery aneurysm, Dilatation of the cerebral artery, Arterial tortuosity, Descending tho...	OMIM:609192
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Pulmonic stenosis, Atrial septal defect, Ventricular septal defect, Hypertrophic cardiomyopathy	OMIM:607721
Focal Dermal Hypoplasia	Optic atrophy, Ureteral duplication, Spina bifida occulta, Hydrocephalus, Myelomeningocele, Hydro...	OMIM:305600
Tubulointerstitial Nephritis And Uveitis Syndrome	Choroidal neovascularization, Cystoid macular edema, Chorioretinal scar, Retinal vasculitis, Papi...	ORPHA:91500
19P13.13 Microdeletion Syndrome	Brachycephaly, Dolichocephaly	ORPHA:357001
Neurofibromatosis Type 1	Hypopigmented skin patches, Inguinal freckling, Multiple cafe-au-lait spots, Heterochromia iridis...	ORPHA:636
3Q29 Microduplication Syndrome	Ventricular septal defect	ORPHA:251038
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Acute kidney injury, Anuria, Hemoglobinuria	ORPHA:90038
Intellectual Developmental Disorder, Autosomal Dominant 53	Brachycephaly, Posterior plagiocephaly	OMIM:617798
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Perimembranous ventricular septal defect, Atrioventricular canal defect, Truncus arteriosus, Coar...	ORPHA:508498
Osteogenesis Imperfecta, Type Xi	Brachycephaly	OMIM:610968
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Brachycephaly	OMIM:619244
Acrofacial Dysostosis 1, Nager Type	Hydrocephalus, Aqueductal stenosis, Aganglionic megacolon, Unilateral renal agenesis	OMIM:154400
Tetrasomy 5P	Hydrocephalus	ORPHA:3309
Degcags Syndrome	Hepatomegaly, Anemia, Iron deficiency anemia, Pancytopenia, Dysplastic pulmonary valve, Patent fo...	OMIM:619488
Marshall-Smith Syndrome	Hydrocephalus, Ventriculomegaly, Optic nerve hypoplasia, Agenesis of corpus callosum	OMIM:602535
Congenital Tracheal Stenosis	Anomalous origin of left pulmonary artery from ascending aorta, Pulmonary artery atresia, Ascendi...	ORPHA:141127
Alpha-Mannosidosis, Infantile Form	Recurrent urinary tract infections, Oligosacchariduria, Optic disc pallor, Communicating hydrocep...	ORPHA:309282
Phosphoribosylaminoimidazole Carboxylase Deficiency	Brachycephaly	OMIM:619859
Microcephaly, Developmental Delay, And Brittle Hair Syndrome	Aortic root aneurysm, Atrial septal defect	OMIM:618891
Dyssegmental Dysplasia, Silverman-Handmaker Type	Hydrocephalus, Encephalocele	ORPHA:1865
Ring Chromosome 12 Syndrome	Secundum atrial septal defect	ORPHA:1439
Distal Deletion 6P	Atrial septal defect	ORPHA:96125
Achondroplasia	Hydrocephalus	ORPHA:15
Pterygium Colli-Intellectual Disability-Digital Anomalies Syndrome	Brachycephaly	ORPHA:2988
Oculodentodigital Dysplasia, Autosomal Recessive	Brachycephaly, Frontal bossing	OMIM:257850
Saethre-Chotzen Syndrome	Brachycephaly, Craniosynostosis, Plagiocephaly	ORPHA:794
Pallister-Killian Syndrome	Rhizomelia, Hypospadias, 11 pairs of ribs, Delayed eruption of teeth, Mesomelic/rhizomelic limb s...	OMIM:601803
Adams-Oliver Syndrome	Hydrocephalus, Encephalocele	ORPHA:974
Glycogen Storage Disease Of Heart, Lethal Congenital	Hydrocephalus, Enlarged kidney	OMIM:261740
Baller-Gerold Syndrome	Brachycephaly, Frontal bossing, Brachyturricephaly	ORPHA:1225
Autosomal Recessive Hypophosphatemic Rickets	Hyperphosphaturia, Abnormality of renal excretion, Renal phosphate wasting	ORPHA:289176
Congenital Myopathy 22A, Classic	Normal pressure hydrocephalus	OMIM:620351
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Brachycephaly	OMIM:614800
Mayer-Rokitansky-Küster-Hauser Syndrome	Pulmonic stenosis, Atrial septal defect	ORPHA:3109
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts	Communicating hydrocephalus	OMIM:600559
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures	Plagiocephaly, Turricephaly	OMIM:620224
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Hydrocephalus, Encephalocele	OMIM:224400
Pancreatic And Cerebellar Agenesis	Secundum atrial septal defect, Pancreatic hypoplasia, Anemia, Pancreatic aplasia	OMIM:609069
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Hepatomegaly, Interrupted aortic arch, Patent foramen ovale, Hypertrophic cardiomyopathy, Coarcta...	ORPHA:17
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Aortic root aneurysm, Patent foramen ovale, Right ventricular hypertrophy, Patent ductus arterios...	ORPHA:280633
Spondyloocular Syndrome	Atrial septal defect, Dysplastic aortic valve, Mitral valve prolapse	OMIM:605822
Pituitary Deficiency Due To Rathke Cleft Cysts	Hydrocephalus, Optic nerve compression	ORPHA:91350
Fucosidosis	Brachycephaly	ORPHA:349
Larsen Syndrome	Atrial septal defect, Ventricular septal defect, Aortic aneurysm	OMIM:150250
Cerebellofaciodental Syndrome	Ventricular septal defect, Mitral valve prolapse	OMIM:616202
Aneurysm Of Sinus Of Valsalva	Oliguria	ORPHA:1054
Renpenning Syndrome 1	Situs inversus totalis, Atrial septal defect, Ventricular septal defect, Tetralogy of Fallot	OMIM:309500
Partial Androgen Insensitivity Syndrome	Male sexual dysfunction, Primary amenorrhea, Male infertility, Azoospermia	ORPHA:90797
Marfanoid-Progeroid-Lipodystrophy Syndrome	Hydrocephalus, Lateral ventricular asymmetry	OMIM:616914
Wolf-Hirschhorn Syndrome	Abnormality of the gallbladder, Abnormal heart valve morphology, Atrial septal defect, Abdominal ...	ORPHA:280
Myhre Syndrome	Aortic valve stenosis, Pericardial effusion, Coarctation of aorta, Patent ductus arteriosus, Atri...	OMIM:139210
Bent Bone Dysplasia Syndrome 2	Atrial septal defect, Hepatomegaly	OMIM:620076
Cardiospondylocarpofacial Syndrome	Muscular ventricular septal defect, Hypoplastic aortic arch, Patent foramen ovale, Dysplastic tri...	OMIM:157800
Faciocardiorenal Syndrome	Plagiocephaly	ORPHA:1973
Combined Oxidative Phosphorylation Deficiency 15	Ventricular septal hypertrophy, Ventricular septal defect	OMIM:614947
Desmosterolosis	Hydrocephalus, Ventriculomegaly, Partial agenesis of the corpus callosum	OMIM:602398
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Abnormal temper tantrums, Azoospermia, Hydrocephalus, Papilledema, Ventriculomegaly	ORPHA:2072
Weill-Marchesani Syndrome 2	Brachycephaly, Congestive heart failure, Broad skull, Pulmonic stenosis, Aortic valve stenosis, M...	OMIM:608328
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Plagiocephaly	ORPHA:2916
C Syndrome	Renal hypoplasia/aplasia, Micromelia, Micrognathia, Multicystic kidney dysplasia, Horseshoe kidney	ORPHA:1308
Dysostosis, Stanescu Type	Brachycephaly	ORPHA:1798
Holoprosencephaly 7	Semilobar holoprosencephaly, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Oc...	OMIM:610828
Branchiooculofacial Syndrome	Hypospadias, Renal cyst, Renal agenesis, Cleft of chin, Micrognathia, Malar flattening, Short thu...	OMIM:113620
Pfeiffer Syndrome Type 2	Hydrocephalus, Aqueductal stenosis	ORPHA:93259
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Abnormal left ventricle morphology, Patent ductus arteriosus, Patent foramen ovale, Ebstein anoma...	ORPHA:466791
Cutis Laxa, Autosomal Dominant 1	Ventricular septal defect, Peripheral pulmonary artery stenosis	OMIM:123700
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Atrial septal defect, Atrioventricular canal defect, Ventricular septal defect, Patent ductus art...	ORPHA:3047
Aymé-Gripp Syndrome	Hydrocephalus, Ventriculomegaly, Proteinuria	ORPHA:1272
Mucopolysaccharidosis, Type Vi	Hydrocephalus, Cervical myelopathy, Dermatan sulfate excretion in urine	OMIM:253200
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Plagiocephaly	OMIM:619227
Cleidocranial Dysplasia	Brachycephaly, Frontal bossing	ORPHA:1452
Paternal Uniparental Disomy Of Chromosome 6	Cardiomegaly, Hepatomegaly, Ventricular septal defect, Patent ductus arteriosus	ORPHA:96191
Magel2-Related Prader-Willi-Like Syndrome	Atrial septal defect	ORPHA:398069
Congenital Disorder Of Glycosylation, Type Iiw	Hepatomegaly, Anemia, Bile duct proliferation, Prolonged neonatal jaundice, Thrombocytopenia, Spl...	OMIM:619525
Wiedemann-Rautenstrauch Syndrome	Optic atrophy, Hypospadias, Optic disc hypoplasia, Hydrocephalus, Dilatation of renal calices, Re...	ORPHA:3455
Au-Kline Syndrome	Plagiocephaly, Hypertension, Dolichocephaly, Craniosynostosis, Sagittal craniosynostosis	OMIM:616580
Acromelic Frontonasal Dysplasia	Brachycephaly	ORPHA:1827
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Ventricular septal defect	OMIM:178110
Pfeiffer Syndrome	Hydrocephalus	OMIM:101600
Warburg Micro Syndrome 2	Brachycephaly	OMIM:614225
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Aortic aneurysm, Abnormal heart morphology, Bicuspid aortic valve, Atrial septal defect, Ventricu...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Aortic aneurysm, Abnormal heart morphology, Bicuspid aortic valve, Atrial septal defect, Ventricu...	ORPHA:352665
Benign Schwannoma	Nasal polyposis	ORPHA:252164
Medulloblastoma	Hydrocephalus, Abnormal cranial nerve morphology	ORPHA:616
Spondylodysplastic Ehlers-Danlos Syndrome	Abnormal heart valve morphology, Ascending tubular aorta aneurysm, Prominent scalp veins, Pulmoni...	ORPHA:536471
9P13 Microdeletion Syndrome	Brachycephaly	ORPHA:324313
Basal Cell Nevus Syndrome 2	Hydrocephalus	OMIM:620343
Cardiogenic Shock	Oliguria	ORPHA:97292
Den Hoed-De Boer-Voisin Syndrome	Brachycephaly	OMIM:619229
Congenital Disorder Of Glycosylation, Type Iia	Brachycephaly	OMIM:212066
Metaphyseal Chondrodysplasia, Jansen Type	Brachycephaly	OMIM:156400
Carey-Fineman-Ziter Syndrome 1	Plagiocephaly, Pulmonary arterial hypertension	OMIM:254940
Cutis Laxa, Autosomal Recessive, Type Iid	Atrial septal defect, Hypoplastic right heart, Ascending tubular aorta aneurysm, Hypertrophic car...	OMIM:617403
Cerebellar-Facial-Dental Syndrome	Ascending tubular aorta aneurysm, Ventricular septal defect, Mitral valve prolapse	ORPHA:444072
Eosinophilic Granulomatosis With Polyangiitis	Nasal polyposis	ORPHA:183
Chromosome 15Q11.2 Deletion Syndrome	Plagiocephaly	OMIM:615656
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Cirrhosis, Hepatomegaly, Microvesicular hepatic steatosis, Elevated hepatic iron concentration, P...	OMIM:300868
Skin Creases, Congenital Symmetric Circumferential, 1	Brachycephaly	OMIM:156610
Capillary Malformation-Arteriovenous Malformation	Hydrocephalus, Neurogenic bladder	ORPHA:137667
Peters-Plus Syndrome	Ureteral duplication, Hypospadias, Hydrocephalus, Retinal coloboma, Renal hypoplasia, Hydronephro...	OMIM:261540
Limb Body Wall Complex	Ectopia cordis, Abnormal heart morphology, Abnormality of the liver, Atrial septal defect, Ventri...	ORPHA:2369
Chromosome 16P13.3 Duplication Syndrome	Atrial septal defect, Ventricular septal defect, Tetralogy of Fallot	OMIM:613458
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Plagiocephaly	ORPHA:496641
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Ventricular septal defect, Patent ductus arteriosus	OMIM:106260
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Brachycephaly	ORPHA:456312
Omodysplasia 1	Pulmonary artery stenosis, Atrial septal defect, Ventricular septal defect	OMIM:258315
Large Congenital Melanocytic Nevus	Hydrocephalus	ORPHA:626
Mend Syndrome	Hydrocephalus, Dandy-Walker malformation, Hyperactivity, Abnormal auditory evoked potentials, Agg...	ORPHA:401973
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Brachycephaly, Thickened calvaria	OMIM:309583
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Hydrocephalus	OMIM:616007
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Atrial septal defect, Patent ductus arteriosus	OMIM:213980
Thoracic Dysplasia-Hydrocephalus Syndrome	Communicating hydrocephalus	ORPHA:1861
Cerebrofaciothoracic Dysplasia	Brachycephaly	ORPHA:1394
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Aortic valve stenosis, Pulmonic stenosis, Coarctation of aorta, Abnormal heart morphology, Vascul...	ORPHA:353281
Noonan Syndrome 1	Juvenile myelomonocytic leukemia, Amegakaryocytic thrombocytopenia, Hypertrophic cardiomyopathy, ...	OMIM:163950
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia	Plagiocephaly	OMIM:300749
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Atrial septal defect	ORPHA:522077
Fibrochondrogenesis	Plagiocephaly	ORPHA:2021
Neurofibromatosis, Type I	Hydrocephalus, Aqueductal stenosis, Renal artery stenosis, Spina bifida	OMIM:162200
Granulomatosis With Polyangiitis	Nasal mucosa vasculitis, Concave nasal ridge	OMIM:608710
Trichohepatoneurodevelopmental Syndrome	Brachycephaly, Plagiocephaly	OMIM:618268
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Anemia, Patent foramen ovale, Anomalous origin of left subclavian artery, Pulmonic stenosis, Abno...	ORPHA:438213
Osteogenesis Imperfecta	Hydrocephalus, Hypercalciuria, Nephrolithiasis, Dysphagia, Noncommunicating hydrocephalus, Ventri...	ORPHA:666
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Brachycephaly, Frontal bossing	ORPHA:1236
Craniofrontonasal Syndrome	Coronal craniosynostosis, Frontal bossing, Brachycephaly	OMIM:304110
White-Sutton Syndrome	Brachycephaly	ORPHA:468678
Baller-Gerold Syndrome	Optic atrophy, Abnormality of the kidney, Spina bifida occulta, Hydrocephalus, Optic nerve hypopl...	OMIM:218600
Okamoto Syndrome	Abnormal left ventricle morphology, Primum atrial septal defect, Aortic valve stenosis, Abnormal ...	ORPHA:2729
Neurofaciodigitorenal Syndrome	Brachycephaly, Plagiocephaly	ORPHA:2673
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Ventricular septal defect	OMIM:614653
Stickler Syndrome	Retinal detachment, Retinal hole, Lattice retinal degeneration, Abnormal vitreous humor morphology	ORPHA:828
Costello Syndrome	Lymphangiectasis, Hypertrophic cardiomyopathy, Pulmonic stenosis, Mitral valve prolapse, Atrial s...	OMIM:218040
Kabuki Syndrome 1	Hydrocephalus, Hydronephrosis, Ureteropelvic junction obstruction, Crossed fused renal ectopia, L...	OMIM:147920
Hallermann-Streiff Syndrome	Brachycephaly, Congestive heart failure, Frontal bossing	ORPHA:2108
Cutis Laxa, Autosomal Recessive, Type Iic	Patent foramen ovale, Mitral valve prolapse, Atrial septal defect, Biventricular hypertrophy, Pro...	OMIM:617402
Fraser Syndrome 1	Renal hypoplasia/aplasia, Hypospadias, Encephalocele, Hydrocephalus, Myelomeningocele, Renal hypo...	OMIM:219000
Campomelic Dysplasia	Hypospadias, Hydrocephalus, Spina bifida, Hydronephrosis, Spinal dysraphism	OMIM:114290
Arboleda-Tham Syndrome	Pulmonic stenosis, Secundum atrial septal defect, Patent ductus arteriosus, Atrial septal defect,...	OMIM:616268
Multicentric Osteolysis, Nodulosis, And Arthropathy	Brachycephaly, Frontal bossing	OMIM:259600
Beemer-Ertbruggen Syndrome	Communicating hydrocephalus	ORPHA:1237
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Patent foramen ovale, Prolonged neonatal jaundice, Right ventricular hypertrophy, Aplasia of the ...	OMIM:620186
Cartilage-Hair Hypoplasia	Brachycephaly	OMIM:250250
Schinzel-Giedion Midface Retraction Syndrome	Hepatoblastoma, Atrial septal defect, Splenopancreatic fusion	OMIM:269150
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Patent foramen ovale, Hypertrophic cardiomyopathy, Pulmonic stenosis, Abnormal heart morphology, ...	ORPHA:363700
Shprintzen-Goldberg Craniosynostosis Syndrome	Hydrocephalus	OMIM:182212
Oculodentodigital Dysplasia	Atrial septal defect	OMIM:164200
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Bicuspid aortic valve, Atrial septal defect, Ventricular septal defect	OMIM:271640
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Elliptocytosis, Anemia, Patent ductus arteriosus, Patent foramen ovale	OMIM:300990
Intellectual Developmental Disorder, Autosomal Dominant 29	Brachycephaly, Frontal bossing	OMIM:616078
Achondroplasia	Hydrocephalus	OMIM:100800
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Atrial septal defect, Ventricular septal defect, Partial anomalous pulmonary venous return	OMIM:301044
Saethre-Chotzen Syndrome	Brachycephaly, Plagiocephaly, Lambdoidal craniosynostosis, Parietal foramina, Coronal craniosynos...	OMIM:101400
Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features	Brachycephaly, Frontal bossing	OMIM:616728
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome	Pulmonary artery stenosis, Atrial septal defect, Ventricular septal defect, Dilatation of the ven...	ORPHA:459070
Adnp Syndrome	Trigonocephaly, Plagiocephaly, Brachycephaly	ORPHA:404448
Common Variable Immunodeficiency	Brachycephaly, Vasculitis	ORPHA:1572
Hunter-Macdonald Syndrome	Brachycephaly, Hypertension, Mitral regurgitation, Aortic regurgitation	OMIM:611962
Esophageal Atresia	Coarctation of aorta, Ventricular septal defect, Tetralogy of Fallot	ORPHA:1199
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Flat occiput, Brachycephaly	ORPHA:2211
Progressive Non-Infectious Anterior Vertebral Fusion	Brachycephaly	ORPHA:2062
Mosaic Trisomy 20	Abnormal mitral valve morphology, Ventricular septal defect, Dysplastic tricuspid valve	ORPHA:1724
Cleidocranial Dysplasia 2	Plagiocephaly	OMIM:620099
Gapo Syndrome	Frontal bossing, Plagiocephaly	OMIM:230740
Turnpenny-Fry Syndrome	Tricuspid valve prolapse, Mitral valve prolapse, Patent ductus arteriosus, Atrial septal defect, ...	OMIM:618371
Semilobar Holoprosencephaly	Neural tube defect, Hydrocephalus, Abnormality of the autonomic nervous system, Dysphagia, Agenes...	ORPHA:220386
Alobar Holoprosencephaly	Neural tube defect, Hydrocephalus, Abnormality of the autonomic nervous system, Dysphagia, Agenes...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Neural tube defect, Hydrocephalus, Abnormality of the autonomic nervous system, Dysphagia, Agenes...	ORPHA:93926
Lobar Holoprosencephaly	Neural tube defect, Hydrocephalus, Abnormality of the autonomic nervous system, Dysphagia, Agenes...	ORPHA:93924
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Brachycephaly, Plagiocephaly	OMIM:301072
Atelosteogenesis Type Ii	Plagiocephaly	ORPHA:56304
Cornelia De Lange Syndrome 6	Atrioventricular canal defect, Ventricular septal defect, Pulmonary artery atresia	OMIM:620568
Orofaciodigital Syndrome Ii	Hydrocephalus	OMIM:252100
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Hepatomegaly, Abnormal aortic arch morphology, Hypertrophic cardiomyopathy, Pulmonary artery sten...	ORPHA:96334
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Abnormal subclavian artery morphology, Patent foramen ovale, Pulmonic stenosis, Aortic valve sten...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Abnormal subclavian artery morphology, Patent foramen ovale, Pulmonic stenosis, Aortic valve sten...	ORPHA:353277
46,Xy Partial Gonadal Dysgenesis	Delayed puberty, Male infertility, Azoospermia, Hypergonadotropic hypogonadism, Primary amenorrhe...	ORPHA:251510
Helsmoortel-Van Der Aa Syndrome	Atrial septal defect, Abnormal heart morphology, Mitral valve prolapse	OMIM:615873
Catel-Manzke Syndrome	Overriding aorta, Coarctation of aorta, Ventricular septal defect, Dextrocardia	OMIM:616145
Yunis-Varon Syndrome	Hypospadias, Hydrocephalus, Renal artery stenosis, Renovascular hypertension, Agenesis of corpus ...	ORPHA:3472
Laurin-Sandrow Syndrome	Hydrocephalus	ORPHA:2378
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome	Brachycephaly	ORPHA:521445
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development	Brachycephaly	OMIM:601353
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Atrial septal defect, Total anomalous pulmonary venous return	OMIM:609945
Ciliary Dyskinesia, Primary, 43	Noncommunicating hydrocephalus	OMIM:618699
Bifid Nose With Or Without Anorectal And Renal Anomalies	Brachycephaly	OMIM:608980
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Aganglionic megacolon, Unilateral renal agenesis, Hypospadias, Renal agenesis, Renal dysplasia, V...	OMIM:308205
Fontaine Progeroid Syndrome	Aortic aneurysm, Left ventricular hypertrophy, Abnormal heart morphology, Patent ductus arteriosu...	OMIM:612289
Autosomal Recessive Malignant Osteopetrosis	Hydrocephalus, Optic nerve compression	ORPHA:667
Distal Deletion 3P	Brachycephaly	ORPHA:1620
Microphthalmia, Syndromic 3	Ventricular septal defect, Patent ductus arteriosus	OMIM:206900
Absent Radius-Anogenital Anomalies Syndrome	Hydrocephalus	ORPHA:3016
Cole-Carpenter Syndrome	Communicating hydrocephalus	ORPHA:2050
Arthrogryposis And Ectodermal Dysplasia	Brachycephaly	OMIM:601701
Exercise-Induced Malignant Hyperthermia	Oliguria, Acute kidney injury	ORPHA:466650
Peutz-Jeghers Syndrome	Nasal polyposis	OMIM:175200
Johanson-Blizzard Syndrome	Situs inversus totalis, Atrial septal defect, Intrahepatic cholestasis, Hepatomegaly, Vascular di...	OMIM:243800
Basal Cell Nevus Syndrome 1	Hydrocephalus, Spina bifida	OMIM:109400
Alg12-Cdg	Posterior plagiocephaly	ORPHA:79324
Wiedemann-Rautenstrauch Syndrome	Hypospadias, Long penis, Hydrocephalus, Dandy-Walker malformation, Dysphagia, Agenesis of corpus ...	OMIM:264090
Ayme-Gripp Syndrome	Craniofacial asymmetry, Pericarditis, Brachycephaly	OMIM:601088
Poland Syndrome	Acute leukemia, Atrial septal defect, Abnormality of the liver, Dextrocardia	ORPHA:2911
Chromosome 13Q14 Deletion Syndrome	Patent foramen ovale, Ventricular septal defect	OMIM:613884
Ctcf-Related Neurodevelopmental Disorder	Prolonged neonatal jaundice, Atrial septal defect, Coarctation of aorta, Patent ductus arteriosus	ORPHA:363611
Coffin-Siris Syndrome 12	Hypospadias, Facial palsy, Motor stereotypy, Noncommunicating hydrocephalus, Horseshoe kidney	OMIM:619325
Monosomy 9P	Trigonocephaly, Calvarial skull defect, Brachycephaly	ORPHA:261112
Pmm2-Cdg	Abnormal renal tubule morphology, Abnormal liver parenchyma morphology, Retrognathia, Mandibular ...	ORPHA:79318
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Hydrocephalus, Retinal hemorrhage, Peripapillary atrophy, Facial paralysis, Hypopigmentation of t...	OMIM:175780
Yellow Fever	Acute kidney injury, Anuria, Renal insufficiency	ORPHA:99829
Congenital Fibrosis Of Extraocular Muscles	Plagiocephaly	ORPHA:45358
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Atrial septal defect, Tricuspid valve prolapse, Mitral valve prolapse	OMIM:601776
Autosomal Recessive Faciodigitogenital Syndrome	Brachycephaly, Frontal bossing	ORPHA:1974
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Craniosynostosis, Plagiocephaly	ORPHA:1521
Acrofacial Dysostosis, Cincinnati Type	Aqueductal stenosis, Hydrocephalus, Dandy-Walker malformation, Hydronephrosis, Dysphagia, Ventric...	OMIM:616462
Duane Retraction Syndrome	Plagiocephaly	ORPHA:233
Mandibuloacral Dysplasia Progeroid Syndrome	Hepatomegaly, Macrovesicular hepatic steatosis, Patent foramen ovale, Mitral valve calcification,...	OMIM:619127
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Ventriculomegaly, Micropenis, Communicating hydrocephalus	ORPHA:457359
Mowat-Wilson Syndrome	Pulmonic stenosis, Pulmonary artery stenosis, Abnormal heart morphology, Patent ductus arteriosus...	OMIM:235730
Neurofibromatosis-Noonan Syndrome	Pulmonic stenosis, Secundum atrial septal defect	OMIM:601321
Alkaptonuria	Hemolytic anemia, Methemoglobinemia	ORPHA:56
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects	Plagiocephaly	OMIM:620083
Ring Chromosome 7 Syndrome	Brachycephaly, Plagiocephaly, Heart murmur	ORPHA:1449
Shprintzen-Goldberg Syndrome	Ventriculomegaly, Communicating hydrocephalus	ORPHA:2462
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Ventricular septal defect	ORPHA:1071
Keutel Syndrome	Pulmonic stenosis, Ventricular septal defect, Peripheral pulmonary artery stenosis, Pulmonary art...	OMIM:245150
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Ventricular septal defect, Cerebral hemorrhage, Patent ductus arteriosus	OMIM:616682
Orofaciodigital Syndrome Xiv	Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus	OMIM:615948
Lhermitte-Duclos Disease	Hydrocephalus	ORPHA:65285
Acrofrontofacionasal Dysostosis 1	Brachycephaly	OMIM:201180
Cystic Fibrosis	Failure to thrive, Male infertility	OMIM:219700
Treacher-Collins Syndrome	Brachycephaly, Frontal bossing	ORPHA:861
Williams-Beuren Syndrome	Myxomatous mitral valve degeneration, Retinal arteriolar tortuosity, Stroke, Renal artery stenosi...	OMIM:194050
Faciocardiomelic Syndrome	Common atrium	OMIM:612731
Spondylometaphyseal Dysplasia, Sedaghatian Type	Myocarditis, Atrial septal defect	OMIM:250220
Diphallia	Atrial septal defect, Abnormal heart morphology	ORPHA:227
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Congestive heart failure, Plagiocephaly, Pulmonary arterial hypertension	ORPHA:444077
Floating-Harbor Syndrome	Persistent left superior vena cava, Atrial septal defect, Mesocardia, Coarctation of aorta	OMIM:136140
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Ischemic stroke, Transient ischemic attack, Abnormal heart morphology, Absent gallbladder, Patent...	ORPHA:500150
Cystic Fibrosis	Failure to thrive, Male infertility, Decreased body mass index	ORPHA:586
Chromosome 17Q23.1-Q23.2 Deletion Syndrome	Bicuspid aortic valve, Secundum atrial septal defect, Patent ductus arteriosus	OMIM:613355
Coffin-Siris Syndrome 1	Atrial septal defect, Ventricular septal defect, Tetralogy of Fallot, Patent ductus arteriosus	OMIM:135900
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Brachycephaly	OMIM:616263
X-Linked Intellectual Disability, Snyder Type	Brachycephaly	ORPHA:3063
Gaucher Disease, Type Iiic	Hydrocephalus	OMIM:231005
Congenital Disorder Of Deglycosylation 1	Brachycephaly	OMIM:615273
Kbg Syndrome	Brachycephaly	OMIM:148050
Lethal Omphalocele-Cleft Palate Syndrome	Hydrocephalus	ORPHA:2736
Aicardi-Goutières Syndrome	Plagiocephaly, Raynaud phenomenon, Hypertrophic cardiomyopathy	ORPHA:51
Branchioskeletogenital Syndrome	Brachycephaly, Craniosynostosis, Thickened calvaria	ORPHA:1299
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Trigonocephaly, Craniosynostosis, Brachycephaly	OMIM:309590
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Brachycephaly, Posterior plagiocephaly, Frontal bossing, Dolichocephaly, Scaphocephaly	OMIM:620330
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Brachycephaly	OMIM:619950
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Frontal bossing, Dolichocephaly, Plagiocephaly	OMIM:619480
Hereditary Cryohydrocytosis With Reduced Stomatin	Hypoglycorrhachia, Communicating hydrocephalus	ORPHA:168577
Congenital Myopathy 13	Brachycephaly	OMIM:255995
6Q Terminal Deletion Syndrome	Plagiocephaly, Dolichocephaly	ORPHA:75857
14Q22Q23 Microdeletion Syndrome	Brachycephaly	ORPHA:264200
Faciodigitogenital Syndrome, Autosomal Recessive	Brachycephaly	OMIM:227330
Otopalatodigital Syndrome, Type Ii	Hydrocephalus, Hydronephrosis, Hypospadias, Spina bifida	OMIM:304120
Frontofacionasal Dysplasia	Brachycephaly, Hypoplasia of the frontal bone	OMIM:229400
Congenital Disorder Of Glycosylation, Type Iim	Atrial septal defect	OMIM:300896
Hypermobile Ehlers-Danlos Syndrome	Venous insufficiency, Aortic root aneurysm, Ascending tubular aorta aneurysm, Arterial dissection...	ORPHA:285
Restrictive Dermopathy 1	Atrial septal defect, Patent ductus arteriosus	OMIM:275210
Acromelic Frontonasal Dysostosis	Brachycephaly, Parietal foramina	OMIM:603671
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus	OMIM:619522
Familial Cerebral Cavernous Malformation	Cerebral hemorrhage, Venous malformation	ORPHA:221061
Pallister-Hall Syndrome	Atrioventricular canal defect, Coarctation of aorta, Patent ductus arteriosus, Atrial septal defe...	ORPHA:672
Osteoporosis-Pseudoglioma Syndrome	Ventricular septal defect	OMIM:259770
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Ventriculomegaly, Communicating hydrocephalus	OMIM:617011
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Cyst of the ductus choledochus, Atrial septal defect, Cardiomyopathy, Patent ductus arteriosus	ORPHA:480880
Orofaciodigital Syndrome Type 14	Ventricular septal defect, Patent ductus arteriosus	ORPHA:434179
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Brachycephaly, Frontal bossing	OMIM:617157
Faundes-Banka Syndrome	Frontal bossing, Plagiocephaly	OMIM:619376
Sotos Syndrome	Aortic aneurysm, Prolonged neonatal jaundice, Acute lymphoblastic leukemia, Abnormal heart morpho...	ORPHA:821
Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures	Plagiocephaly, Sagittal craniosynostosis	OMIM:620455
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Brachycephaly, Cloverleaf skull, Hypertension, Frontal bossing, Craniosynostosis	OMIM:201750
Trichorhinophalangeal Syndrome, Type Ii	Plagiocephaly, Skull asymmetry, Myocardial infarction	OMIM:150230
Elsahy-Waters Syndrome	Brachycephaly	OMIM:211380
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Subarterial ventricular septal defect, Secundum atrial septal defect, Lymphangioma, Acute myelomo...	ORPHA:99646
Aspartylglucosaminuria	Brachycephaly, Thickened calvaria, Mitral regurgitation	OMIM:208400
X-Linked Intellectual Disability, Armfield Type	Brachycephaly	ORPHA:85276
Spondyloepimetaphyseal Dysplasia, Genevieve Type	Brachycephaly	OMIM:610442
Fetal Akinesia Deformation Sequence 1	Hydrocephalus	OMIM:208150
Alström Syndrome	Drusen, Irregular menstruation, Retinal dystrophy, Decreased fertility in males, Delayed menarche...	ORPHA:64
Sarcoidosis	Abnormal nasal mucosa morphology	ORPHA:797
Microphthalmia, Syndromic 6	Brachycephaly, Plagiocephaly, Lambdoidal craniosynostosis	OMIM:607932
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Plagiocephaly	ORPHA:3042
Norrie Disease	Malar flattening, Venous insufficiency	ORPHA:649
Primrose Syndrome	Brachycephaly	OMIM:259050

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.

No publications found that use IMPC mice or data for Cep290.

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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

X-ray

Gross Morphology Embryo E18.5

X-ray

Human diseases caused by Cep290 mutations

Histopathology

IMPC related publications

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Access Data Release 21.0 Data