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Gene: Pdcd6ip MGI:1333753

Gene Summary

Name:

programmed cell death 6 interacting protein

Synonyms:

Alix, AIP1

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
enlarged stomach	Pdcd6ip^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal stomach morphology	Pdcd6ip^em1(IMPC)Mbp	HOM	Late adult	0.00
polycystic kidney	Pdcd6ip^em1(IMPC)Mbp	HOM	Late adult	0.00
small heart	Pdcd6ip^em1(IMPC)Mbp	HOM	Early adult	0.00
small kidney	Pdcd6ip^em1(IMPC)Mbp	HOM	Late adult	0.00
decreased circulating bilirubin level	Pdcd6ip^em1(IMPC)Mbp	HOM	Late adult	1.20×10^-05
increased mean platelet volume	Pdcd6ip^em1(IMPC)Mbp	HOM	Early adult	4.58×10^-05
increased circulating HDL cholesterol level	Pdcd6ip^em1(IMPC)Mbp	HOM	Late adult	1.89×10^-06
increased grip strength	Pdcd6ip^em1(IMPC)Mbp	HOM	Late adult	4.33×10^-05
abnormal testis morphology	Pdcd6ip^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal eye morphology	Pdcd6ip^em1(IMPC)Mbp	HOM	Late adult	0.00
enlarged lymph nodes	Pdcd6ip^{em1(IMPC)Hmgu}	HOM	Late adult	0.00
decreased heart weight	Pdcd6ip^em1(IMPC)Mbp	HOM	Late adult	6.55×10^-11
small testis	Pdcd6ip^em1(IMPC)Mbp	HOM	Late adult	0.00
enlarged lymph nodes	Pdcd6ip^em1(IMPC)Mbp	HOM	Late adult	0.00
decreased brain size	Pdcd6ip^em1(IMPC)Mbp	HOM	Late adult	0.00
microphthalmia	Pdcd6ip^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal brain morphology	Pdcd6ip^em1(IMPC)Mbp	HOM	Early adult	0.00
decreased body length	Pdcd6ip^em1(IMPC)Mbp	HOM	Late adult	2.41×10^-05
abnormal lung morphology	Pdcd6ip^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal testis morphology	Pdcd6ip^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal spleen morphology	Pdcd6ip^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal kidney morphology	Pdcd6ip^em1(IMPC)Mbp	HOM	Late adult	0.00
hydrocephaly	Pdcd6ip^em1(IMPC)Mbp	HOM	Late adult	0.00
decreased brain weight	Pdcd6ip^em1(IMPC)Mbp	HOM	Early adult	5.58×10^-42
increased grip strength	Pdcd6ip^{em1(IMPC)Hmgu}	HOM	Late adult	1.12×10^-09
abnormal lymph node morphology	Pdcd6ip^em1(IMPC)Mbp	HOM	Late adult	0.00
thick skin	Pdcd6ip^em1(IMPC)Mbp	HOM	Late adult	0.00
decreased food intake	Pdcd6ip^{em1(IMPC)Hmgu}	HOM	Late adult	1.30×10^-05
abnormal skin morphology	Pdcd6ip^em1(IMPC)Mbp	HOM	Late adult	0.00
enlarged seminal vesicle	Pdcd6ip^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal seminal vesicle morphology	Pdcd6ip^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal brain morphology	Pdcd6ip^em1(IMPC)Mbp	HOM	Late adult	0.00
decreased brain size	Pdcd6ip^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal heart morphology	Pdcd6ip^em1(IMPC)Mbp	HOM	Early adult	0.00
enlarged spleen	Pdcd6ip^em1(IMPC)Mbp	HOM	Late adult	0.00
small testis	Pdcd6ip^em1(IMPC)Mbp	HOM	Early adult	0.00
increased blood urea nitrogen level	Pdcd6ip^em1(IMPC)Mbp	HOM	Late adult	3.90×10^-05
decreased body length	Pdcd6ip^em1(IMPC)Mbp	HOM	Early adult	6.27×10^-05

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

48 Images

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X-ray

XRay Images Whole Body Lateral Orientation

26 Images

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X-ray

XRay Images Whole Body Dorso Ventral

58 Images

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Histopathology

Images

8 Images

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X-ray

XRay Images Whole Body Lateral Orientation

16 Images

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Human diseases caused by Pdcd6ip 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 Pdcd6ip (1 diseases)
Human diseases predicted to be associated with Pdcd6ip (1636 diseases)

The table below shows human diseases associated to Pdcd6ip by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Microcephaly 29, Primary, Autosomal Recessive		Reduced renal corticomedullary differentiation, Hyperechogenic kidneys	OMIM:620047

The table below shows human diseases predicted to be associated to Pdcd6ip by phenotypic similarity.

Disease	Matching phenotypes	Source
Hydrocephalus, Congenital, 1	Hydrocephalus, Ventriculomegaly	OMIM:236600
Chromosome 8Q12.1-Q21.2 Deletion Syndrome	Hydrocephalus	OMIM:600257
Megalencephaly, Autosomal Dominant	Hydrocephalus	OMIM:155350
Bleeding Disorder, Platelet-Type, 24	Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat...	OMIM:619271
Chudley-Mccullough Syndrome	Dysplastic corpus callosum, Hydrocephalus, Partial agenesis of the corpus callosum, Ventriculomegaly	OMIM:604213
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	Hydrocephalus, Ventriculomegaly	OMIM:615938
Craniofacial Conodysplasia	Hydrocephalus	ORPHA:85168
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2	Hydrocephalus, Ventriculomegaly	OMIM:615937
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Hydrocephalus	ORPHA:2807
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Hydrocephalus, Agenesis of corpus callosum	OMIM:166990
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency	Lymphadenopathy	ORPHA:319600
Meckel Syndrome, Type 8	Encephalocele, Occipital encephalocele, Anophthalmia, Pericardial effusion, Cleft palate, Polycys...	OMIM:613885
Bleeding Disorder, Platelet-Type, 16	Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Impaired platele...	OMIM:187800
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Leukocyte inclusion bodies, Impaired ADP-induced platelet aggregation, Giant platelets, Neutrophi...	OMIM:155100
Pineocytoma	Hydrocephalus, Increased CSF protein concentration	ORPHA:251912
Polycystic Kidney Disease 5	Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co...	OMIM:617610
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome	Hydrocephalus	ORPHA:2703
Alg13-Cdg	Abnormal lateral ventricle morphology, Decreased body weight	ORPHA:324422
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Abnormal lymph node morphology	OMIM:136580
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Normal pressure hydrocephalus, Ventriculomegaly	OMIM:611808
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy	Slender build, Ventriculomegaly, Astrocytosis	OMIM:611087
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu...	OMIM:314050
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Hydrocephalus, Ventriculomegaly	OMIM:618709
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome	Hydrocephalus, Dandy-Walker malformation	ORPHA:1538
Bleeding Disorder, Platelet-Type, 15	Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume	OMIM:615193
Edinburgh Malformation Syndrome	Hydrocephalus, Failure to thrive	OMIM:129850
Renal-Hepatic-Pancreatic Dysplasia 1	Asplenia, Hepatic fibrosis, Atrial septal defect, Dandy-Walker malformation, Hepatomegaly, Portal...	OMIM:208540
Hydrocephalus, Autosomal Dominant	Hydrocephalus, Dandy-Walker malformation	OMIM:123155
Lissencephaly 4	Colpocephaly, Agenesis of corpus callosum	OMIM:614019
Bernard-Soulier Syndrome	Impaired ristocetin-induced platelet aggregation, Giant platelets, Macrothrombocytopenia, Menorrh...	OMIM:231200
Squamous Cell Carcinoma Of The Esophagus	Esophageal carcinoma, Lymphadenopathy	ORPHA:99977
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Hepatic cysts, Portal hypertension, Absence of renal corticome...	OMIM:263200
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia	ORPHA:494444
Atypical Teratoid Rhabdoid Tumor	Hydrocephalus	ORPHA:99966
Myh9-Related Disease	Increased mean platelet volume, Giant platelets, Neutrophil inclusion bodies, Menorrhagia, Congen...	ORPHA:182050
Band Heterotopia	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Lateral ventricle dilatation	OMIM:600348
Beemer Lethal Malformation Syndrome	Hydrocephalus	OMIM:209970
Masa Syndrome	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	OMIM:303350
Bleeding Disorder, Platelet-Type, 21	Increased mean platelet volume, Impaired ADP-induced platelet aggregation, Menorrhagia, Impaired ...	OMIM:617443
Pulmonary Nodular Lymphoid Hyperplasia	Mediastinal lymphadenopathy, Plasmacytosis, Nodular pattern on pulmonary HRCT, Follicular hyperpl...	ORPHA:60026
Nephronophthisis 16	Renal insufficiency, Situs inversus totalis, Stage 5 chronic kidney disease, Cholestasis, Peripor...	OMIM:615382
Platelet Glycoprotein Iv Deficiency	Giant platelets, Thrombocytopenia	OMIM:608404
Hepatic Venoocclusive Disease With Immunodeficiency	Abnormality of the liver, Endocardial fibrosis, Absence of lymph node germinal center	OMIM:235550
Congenital Disorder Of Glycosylation, Type Iid	Hydrocephalus, Dandy-Walker malformation	OMIM:607091
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Elevated circulating creatine kinase concentration, Cardiomegaly, High, narrow palate, Red-brown ...	ORPHA:228308
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Ureteral duplication, Elevated circulating creatine kinase concentration, Cardiomegaly, High pala...	OMIM:608836
Meckel Syndrome, Type 1	Occipital encephalocele, External genital hypoplasia, Adrenal hypoplasia, Asplenia, Ambiguous gen...	OMIM:249000
Peroxisome Biogenesis Disorder 2A (Zellweger)	Intrahepatic biliary dysgenesis, Hepatomegaly, Cryptorchidism, Jaundice, Cleft palate, Abnormal h...	OMIM:214110
Giant platelet syndrome with thrombocytopenia	Giant platelets, Thrombocytopenia	OMIM:137560
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent	Hydrocephalus	OMIM:266100
Femoral-Facial Syndrome	Maternal diabetes, Renal hypoplasia/aplasia, Cryptorchidism, Long penis, Cleft palate, Abnormal l...	ORPHA:1988
Distal Triplication 15Q	Abnormal external genitalia, Abnormality of the kidney, Hydrocephalus, Dilatation of the renal pe...	ORPHA:314588
Dandy-Walker Syndrome	Dilated fourth ventricle, Hydrocephalus	OMIM:220200
Combined Oxidative Phosphorylation Deficiency 34	Hepatomegaly, Pancytopenia, Hypergonadotropic hypogonadism, Elevated circulating thyroid-stimulat...	OMIM:617872
Bardet-Biedl Syndrome 16	Recurrent respiratory infections, Renal insufficiency, Renal agenesis, External genital hypoplasi...	OMIM:615993
Hyperparathyroidism 2 With Jaw Tumors	Hyperparathyroidism, Pancreatic adenocarcinoma, Hypercalcemia, Hurthle cell thyroid adenoma, Neph...	OMIM:145001
Holoprosencephaly 5	Syntelencephaly, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Lateral ventri...	OMIM:609637
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Diabetes mellitus, Increased circulating thyroglobulin level, Portal hypertension, ...	OMIM:610199
Methylmalonic Acidemia With Homocystinuria	Hydrocephalus, Failure to thrive	ORPHA:26
Caroli Disease	Cholangiocarcinoma, Hepatomegaly, Liver abscess, Cholangitis, Portal hypertension, Conjugated hyp...	ORPHA:53035
Congenital Disorder Of Glycosylation, Type Il	Hepatomegaly, Pericardial effusion, Hepatosplenomegaly, Abnormal cardiac septum morphology, Polyc...	OMIM:608776
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Hydrocephalus	ORPHA:1008
1Q21.1 Microduplication Syndrome	Hypospadias, Cryptorchidism, Hydrocephalus, Gastroesophageal reflux, Tetralogy of Fallot	ORPHA:250994
Hereditary Amyloidosis With Primary Renal Involvement	Decreased HDL cholesterol concentration, Intestinal perforation, Tubulointerstitial nephritis, Ga...	ORPHA:85450
Pelger-Huet Anomaly	Ventricular septal defect, Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Gia...	OMIM:169400
Thrombocytopenia 4	Abnormal platelet volume, Thrombocytopenia	OMIM:612004
Mantle Cell Lymphoma	Abnormality of the gastrointestinal tract, Splenomegaly, Lymphadenopathy	ORPHA:52416
Pontocerebellar Hypoplasia, Type 15	Hydrocephalus, Partial agenesis of the corpus callosum, Agenesis of corpus callosum	OMIM:619302
Autosomal Recessive Polycystic Kidney Disease	Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Protein-losing ente...	ORPHA:731
Peroxisome Biogenesis Disorder 5A (Zellweger)	Conjugated hyperbilirubinemia, Renal cyst, High palate, Atrial septal defect, Intrahepatic biliar...	OMIM:614866
Gillessen-Kaesbach-Nishimura Syndrome	Abnormal lung lobation, Abnormal heart morphology, Periportal fibrosis, Bicornuate uterus, Pulmon...	OMIM:263210
Cholestasis, Progressive Familial Intrahepatic, 10	Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Acholic stools, Portal fibro...	OMIM:619868
Caroli Syndrome	Liver abscess, Cholangitis, Conjugated hyperbilirubinemia, Abnormal intrahepatic bile duct morpho...	ORPHA:480520
Alpha-1-Antitrypsin Deficiency	Hepatocellular carcinoma, Splenomegaly, Panacinar emphysema, Bronchiectasis, Gastric varix, Chron...	OMIM:613490
Congenital Hydrocephalus	Hydrocephalus, Ventriculomegaly, Colpocephaly	ORPHA:2185
Burkitt Lymphoma	Gastrointestinal hemorrhage, Intestinal obstruction, Abnormality of the spleen, Abnormality of th...	ORPHA:543
Peroxisome Biogenesis Disorder 3A (Zellweger)	Hepatomegaly, Polycystic kidney dysplasia, Increased circulating very long-chain fatty acid conce...	OMIM:614859
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Recurrent urinary tract infections, Dextrocardia, Elevated cir...	OMIM:613095
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant	Macrothrombocytopenia	OMIM:619840
Central Precocious Puberty In Male	Astrocytoma, Abnormality of the testis size, Hydrocephalus, Hypothalamic hamartoma, Optic nerve g...	ORPHA:649929
Adenocarcinoma Of The Esophagus	Esophageal carcinoma, Barrett esophagus, Gastroesophageal reflux, Lymphadenopathy	ORPHA:99976
Syndromic Diarrhea	Villous atrophy, Bicuspid aortic valve, Abnormality of the liver, Colitis, Hypoplasia of the thym...	ORPHA:84064
Microphthalmia, Syndromic 12	Anophthalmia, Ventricular septal defect, Intestinal malrotation, Cryptorchidism, Hypoplastic left...	OMIM:615524
Interstitial Nephritis, Karyomegalic	Renal tubular cyst, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic k...	OMIM:614817
Trisomy 17P	Hypoplasia of penis, Urethral valve, Hydrocephalus, Urethral stenosis, Cleft palate, Macroglossia...	ORPHA:261290
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Increased mean platelet volume, Splenomegaly, Thrombocytopenia, Impaired ADP-in...	OMIM:153670
Carnitine Palmitoyltransferase Ii Deficiency	Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit...	ORPHA:157
Hereditary Progressive Mucinous Histiocytosis	Mucinous histiocytosis, Lymphadenopathy	ORPHA:158025
Immunodeficiency 104	Hepatomegaly, Pneumonia, Splenomegaly, Lymphadenopathy, T lymphocytopenia, Gastroesophageal reflux	OMIM:608971
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Elevated circulating C-reactive protein concentration, Prostate cancer, Neutropenia, Hepatospleno...	ORPHA:158057
Polyrrhinia	Lateral ventricle dilatation, Abnormal third ventricle morphology	ORPHA:141091
Slc35A1-Cdg	Giant platelets, Abnormal platelet granules, Thrombocytopenia, Neutropenia	ORPHA:238459
Bardet-Biedl Syndrome 10	Renal insufficiency, Hypogonadism, Renal cyst	OMIM:615987
Diencephalic Syndrome	Hydrocephalus, Cachexia, Decreased body weight	ORPHA:1672
46,Xy Sex Reversal 4	Renal dysplasia, Hypergonadotropic hypogonadism, Elevated circulating creatinine concentration, A...	OMIM:154230
Kleeblattschaedel	Hydrocephalus	OMIM:148800
Matthew-Wood Syndrome	Anophthalmia, Cryptorchidism, Abnormal lung morphology, Renal hypoplasia, Aplasia/Hypoplasia of t...	ORPHA:2470
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Hydrocephalus, Ventriculomegaly	OMIM:614830
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Hepatomegaly, Ventricular septal defect, Ectopic kidney, Cryptorchidism, Microphthalmia, Cystic r...	OMIM:613730
Infantile Sialic Acid Storage Disease	Hepatomegaly, Cardiomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Hydrocephalus, Vacuolate...	OMIM:269920
Multiple Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Acute pancreatitis, Elevated circulating creatine kinase concentration, Elevated ci...	ORPHA:26791
Sporadic Creutzfeldt-Jakob Disease	Increased CSF protein concentration, Gliosis, Astrocytosis	ORPHA:204
Prune Belly Syndrome	Abnormality of the uterus, Vesicoureteral reflux, Atrial septal defect, Multicystic kidney dyspla...	ORPHA:2970
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Anisocytosis, Anemia of inadequate production, Cryptorchidism, Macrothrombocytopenia, Poikilocyto...	ORPHA:67044
22Q11.2 Deletion Syndrome	Anorectal anomaly, Abnormal lung lobation, Hypoplasia of the thymus, Hypocalcemia, Abnormality of...	ORPHA:567
Corpus Callosum, Partial Agenesis Of, X-Linked	Hydrocephalus, Partial agenesis of the corpus callosum, Ventriculomegaly	OMIM:304100
RCAD (renal cysts and diabetes)	Abnormality of the liver, Diabetes mellitus, Multiple renal cysts	DECIPHER:47
Biemond Syndrome Ii	Hydrocephalus	OMIM:210350
Axial Mesodermal Dysplasia Spectrum	Renal hypoplasia/aplasia, Abnormality of the spleen, Hydrocephalus, Anorectal anomaly, Abnormalit...	ORPHA:1834
Takenouchi-Kosaki Syndrome	Hypospadias, Increased mean platelet volume, Cryptorchidism, Abnormal cardiac septum morphology, ...	OMIM:616737
Syndromic Recessive X-Linked Ichthyosis	Renal insufficiency, Unilateral renal agenesis, Abnormal stomach morphology, Cryptorchidism, Acut...	ORPHA:281090
Hepatorenocardiac Degenerative Fibrosis	Portal hypertension, Hypersplenism, Jaundice, Renal cyst, Hepatosplenomegaly, Tubular luminal dil...	OMIM:619902
Nephronophthisis 14	Situs inversus totalis, Polycystic kidney dysplasia, Nephronophthisis	OMIM:614844
Dextrocardia	Meckel diverticulum, Dextrocardia, Intestinal malrotation, Situs inversus totalis, Abnormal repro...	ORPHA:1666
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis	Hydrocephalus	OMIM:236660
Congenital Toxoplasmosis	Hepatomegaly, Ventriculomegaly, Cardiomegaly, Thrombocytopenia, Jaundice, Hydrocephalus, Lymphade...	ORPHA:858
Gombo Syndrome	Microphthalmia, Delayed puberty, Abnormal heart morphology	OMIM:233270
Polymicrogyria With Optic Nerve Hypoplasia	Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum	ORPHA:250972
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Hypospadias, Short uvula, Renal hypoplasia, Renal cyst, Cleft palate, High palate, Pulmonary hypo...	OMIM:614091
Cystic Echinococcosis	Abnormal peritoneum morphology, Multiple pulmonary cysts, Hepatomegaly, Pulmonary cyst, Hepatic c...	ORPHA:400
Hydrocephalus, Congenital, 3, With Brain Anomalies	Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Hydranencephaly, Dandy-Walker malformation	OMIM:617967
Focal Cortical Dysplasia, Type Ii	Astrocytosis	OMIM:607341
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hypertriglyceridemia, Increased circulating ferritin concentration, Splenomegaly, Recurrent upper...	OMIM:613101
Central Neurocytoma	Abnormal lateral ventricle morphology, Hydrocephalus	ORPHA:73256
Morbid Obesity And Spermatogenic Failure	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Oligozoospermia, Increased LDL cho...	OMIM:615703
Campomelia, Cumming Type	Pancreatic cysts, Polycystic liver disease, Polysplenia, Polycystic kidney dysplasia	OMIM:211890
Hemochromatosis, Type 1	Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Cardiomegaly, Increased circulati...	OMIM:235200
Peroxisome Biogenesis Disorder 6A (Zellweger)	Colpocephaly	OMIM:614870
Familial Infantile Bilateral Striatal Necrosis	Basal ganglia gliosis, Failure to thrive, Astrocytosis	ORPHA:225154
Igg4-Related Retroperitoneal Fibrosis	Normocytic anemia, Elevated circulating C-reactive protein concentration, Retrograde ejaculation,...	ORPHA:49041
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Generalized lymphadenopathy, El...	OMIM:615559
Immunodeficiency 38 With Basal Ganglia Calcification	Lymphadenopathy	OMIM:616126
Hydrolethalus Syndrome 2	Anencephaly, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	OMIM:614120
Meckel Syndrome 14	Occipital encephalocele, Pneumothorax, Hepatic fibrosis, Pulmonary hypoplasia, Polycystic kidney ...	OMIM:619879
Developmental And Epileptic Encephalopathy 36	Hydrocephalus	OMIM:300884
Intellectual Developmental Disorder, X-Linked 103	Bilateral cryptorchidism, Lateral ventricle dilatation	OMIM:300982
Meckel Syndrome, Type 11	Occipital encephalocele, Polycystic kidney dysplasia	OMIM:615397
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Thrombocytopenia, Increased mean platelet volume	OMIM:300048
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology, Renal cortical adenoma, Pa...	ORPHA:97290
Craniotelencephalic Dysplasia	Hydrocephalus, Frontal encephalocele, Agenesis of corpus callosum	ORPHA:1528
Multiple Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Glutaric aciduria, Jaundice, Generalized aminoaciduria, Renal cortical cysts, Proxi...	OMIM:231680
Diabetic Embryopathy	Ureteral duplication, Ventricular septal defect, Renal hypoplasia/aplasia, Cryptorchidism, Abnorm...	ORPHA:1926
Congenital Disorder Of Glycosylation, Type Iig	Hypospadias, Cryptorchidism, Thrombocytopenia, Giant platelets, Left ventricular hypertrophy, Anemia	OMIM:611209
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microphthalmia, Recurrent respiratory infections, Median cleft palate, Hepatomegaly	ORPHA:2432
Alpha-Heavy Chain Disease	Abnormal small intestine morphology, Hepatomegaly, Malabsorption, Splenomegaly, Lymphadenopathy, ...	ORPHA:100025
Nphp3-Related Meckel-Like Syndrome	Multicystic kidney dysplasia, Intestinal malrotation, Abnormality of the pancreas, Abnormal liver...	ORPHA:3032
Mosaic Trisomy 9	Hypoplasia of penis, Asplenia, Abnormal lung lobation, High palate, Abnormality of the uterus, Ab...	ORPHA:99776
Meckel Syndrome 13	Occipital encephalocele, Polycystic kidney dysplasia	OMIM:617562
Fried Syndrome	Hydrocephalus	ORPHA:85335
Unilateral Hemispheric Polymicrogyria	Lateral ventricle dilatation	ORPHA:101071
Martsolf Syndrome 2	Lateral ventricle dilatation, Decreased body weight	OMIM:619420
2,4-Dienoyl-Coa Reductase Deficiency	Hydrocephalus, Increased CSF lactate, Colpocephaly, Increased CSF lysine concentration, Failure t...	OMIM:616034
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease	Colonic diverticula, Renal insufficiency, Mitral valve prolapse, Polycystic kidney dysplasia, Hep...	OMIM:173900
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome	Abnormal lateral ventricle morphology	ORPHA:488635
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Hyponatremia, Pancytopenia, Diabetes mellitus, Proteinuria, Polyuria, Renal salt wasting, Hypomag...	OMIM:613845
Isolated Polycystic Liver Disease	Gastrointestinal hemorrhage, Hepatomegaly, Polycystic liver disease, Abnormality of the pancreas,...	ORPHA:2924
Branchiootorenal Syndrome 1	Renal dysplasia, Renal malrotation, Intestinal malrotation, Unilateral renal agenesis, Renal stea...	OMIM:113650
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Hydrocephalus	OMIM:619470
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Occipital encephalocele, Hydrocephalus, Ventriculomegaly	ORPHA:324416
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypoparathyroidism, Renal dysplasia, Renal insufficiency, Psoriasiform dermatitis, Diabetes melli...	ORPHA:2237
Bardet-Biedl Syndrome 4	External genital hypoplasia, Abnormality of the kidney, Cryptorchidism, Renal cyst, Hypogonadism	OMIM:615982
Bresek Syndrome	Renal dysplasia, Hypoplasia of the bladder, Aganglionic megacolon, Optic nerve hypoplasia, Crypto...	ORPHA:85284
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Neutrophilia, Liver abscess, Abnormality of the kidney, Elevated circulating C-reactive protein c...	ORPHA:54251
Gómez-López-Hernández Syndrome	Hydrocephalus	ORPHA:1532
Intellectual Developmental Disorder, Autosomal Recessive 68	Hydrocephalus, Small for gestational age	OMIM:618302
Cholesteryl Ester Storage Disease	Hepatomegaly, Hypertriglyceridemia, Adrenal calcification, Splenomegaly, Jaundice, Esophageal var...	ORPHA:75234
Familial Papillary Or Follicular Thyroid Carcinoma	Chronic noninfectious lymphadenopathy, Follicular thyroid carcinoma, Abnormal lymph node morpholo...	ORPHA:319487
Omphalocele-Cleft Palate Syndrome, Lethal	Hydrocephalus	OMIM:258320
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Respiratory tract inf...	ORPHA:444463
Biemond Syndrome Type 2	Hydrocephalus, Obesity	ORPHA:141333
Hepatoportal Sclerosis	Gastrointestinal hemorrhage, Portal hypertension, Hepatocellular carcinoma, Hypersplenism, Spleno...	ORPHA:64743
Microgastria-Limb Reduction Defect Syndrome	Anophthalmia, Abnormality of the spleen, Abnormal lung lobation, Gastroesophageal reflux, Atrial ...	ORPHA:2538
Laryngeal Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy, Oral-pharyngeal dysphagia, Adrenocorticotropic hormone exc...	ORPHA:100083
Autosomal Recessive Spastic Paraplegia Type 66	Colpocephaly	ORPHA:401815
Polycystic Kidney Disease 7	Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Multiple renal cysts, Renal i...	OMIM:620056
Immunodeficiency 75 With Lymphoproliferation	Recurrent respiratory infections, Follicular hyperplasia, Bronchiectasis, Hepatosplenomegaly, Lym...	OMIM:619126
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased blood urea nitrogen	OMIM:620085
Congenital Fibrinogen Deficiency	Hemorrhagic ovarian cyst, Splenic rupture, Volvulus, Left ventricular hypertrophy, Microphthalmia...	ORPHA:335
Cholestasis, Progressive Familial Intrahepatic, 12	Hepatomegaly, Proteinuria, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Cholestasis, In...	OMIM:620010
Peutz-Jeghers Syndrome	Biliary tract neoplasm, Rectal prolapse, Gastrointestinal infarctions, Stomach cancer, Pancreatic...	ORPHA:2869
Leukoencephalopathy With Vanishing White Matter 5	Lateral ventricle dilatation, Dilated third ventricle	OMIM:620315
Congenital Disorder Of Glycosylation, Type Iio	Hepatomegaly, Decreased circulating ceruloplasmin concentration, Elevated circulating creatine ki...	OMIM:616828
H Syndrome	Hypertriglyceridemia, Psoriasiform dermatitis, Abnormality of the kidney, Diabetes mellitus, Mala...	ORPHA:168569
Frontal Encephalocele	Encephalocele, Hydrocephalus, Spina bifida	ORPHA:1931
Spermatogenic Failure, X-Linked, 2	Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest	OMIM:309120
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Intestinal malrotation, Hydrocephalus, Choroid plexus cyst, Polycystic kidney dysplasia, Hyperech...	OMIM:617866
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7	Astrocytosis	OMIM:600795
Bleeding Disorder, Platelet-Type, 19	Thrombocytopenia, Macrothrombocytopenia, Menorrhagia, Anemia	OMIM:616176
Mmep Syndrome	Microphthalmia, Cryptorchidism, Ventricular septal defect	ORPHA:3434
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	OMIM:618577
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius	Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum, Holoprosencephaly	ORPHA:2182
Mirage Syndrome	Adrenal hypoplasia, Leukopenia, Gastroesophageal reflux, Microphallus, Aspiration pneumonia, Acha...	OMIM:617053
Hypotonia, Infantile, With Psychomotor Retardation	Cryptorchidism, Lateral ventricle dilatation	OMIM:616816
Triploidy	Hepatomegaly, Hypoplasia of penis, Hypospadias, Intestinal malrotation, Cryptorchidism, Abnormali...	ORPHA:3376
Fanconi Anemia, Complementation Group O	External genital hypoplasia, Cryptorchidism, Rectal atresia, Stage 5 chronic kidney disease, Rena...	OMIM:613390
Odontochondrodysplasia 1	Recurrent respiratory infections, Pulmonary hypoplasia, Polycystic kidney dysplasia, Nephronophth...	OMIM:184260
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia	Impaired platelet aggregation, Macrothrombocytopenia, Menorrhagia, Thrombocytopenia	OMIM:124900
Drug-Induced Lupus Erythematosus	Pericarditis, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive...	ORPHA:231111
Pyruvate Dehydrogenase E1-Alpha Deficiency	Small for gestational age, Partial agenesis of the corpus callosum, Cerebellar gliosis, Increased...	ORPHA:79243
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Ambiguous genitalia, Ventricular septal defect, Pancreatic fibrosis, Hamartoma of tongue, Intesti...	OMIM:263520
Isolated Follicle Stimulating Hormone Deficiency	Decreased serum testosterone concentration, Hyperplasia of the Leydig cells, Decreased female lib...	ORPHA:52901
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Ventricular septal defect, Renal hypoplasia/aplasia, Cryptorchidism, Cleft palate, Multiple renal...	ORPHA:1166
Reticuloendotheliosis, X-Linked	Hepatosplenomegaly, Jaundice, Anemia, Lymphadenopathy	OMIM:312500
Acalvaria	Hydrocephalus, Holoprosencephaly, Spina bifida	ORPHA:945
Pontocerebellar Hypoplasia, Type 12	Lateral ventricle dilatation	OMIM:618266
Hydrocephalus-Obesity-Hypogonadism Syndrome	Azoospermia, Hydrocephalus, Obesity	ORPHA:2183
Primary Ciliary Dyskinesia	Atrial situs ambiguous, Asplenia, Abnormal sperm motility, Male infertility, Abnormal atrial arra...	ORPHA:244
Distal 7Q11.23 Microduplication Syndrome	Cryptorchidism, Hydrocephalus, Frontal encephalocele	ORPHA:261102
Kerion Celsi	Lymphadenopathy	ORPHA:499
Inherited Creutzfeldt-Jakob Disease	Increased CSF protein concentration, Astrocytosis	ORPHA:282166
Ogden Syndrome	Bicuspid aortic valve, Maternal diabetes, Cardiomegaly, Secundum atrial septal defect, Microvesic...	OMIM:300855
Behavioral Variant Of Frontotemporal Dementia	Astrocytosis	ORPHA:275864
Distal Deletion 12Q	Diabetes mellitus, Unilateral cryptorchidism, Maturity-onset diabetes of the young, Ectopic kidne...	ORPHA:96149
Alexander Disease Type I	Hydrocephalus, Failure to thrive, Cachexia	ORPHA:363717
Hydrocephalus, Congenital, X-Linked	Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum	OMIM:307000
Niemann-Pick Disease, Type B	Decreased HDL cholesterol concentration, Recurrent respiratory infections, Hypertriglyceridemia, ...	OMIM:607616
Craniofacial Dyssynostosis With Short Stature	Ventricular septal defect, Hypospadias, Cryptorchidism, Pyloric stenosis, Hydrocephalus, Horsesho...	OMIM:218350
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Occipital encephalocele, Hydrocephalus	ORPHA:352682
Griscelli Syndrome	Encephalocele, Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Pyloric stenosis, Jaundice...	ORPHA:381
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia	OMIM:616335
Sitosterolemia 1	Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Stomatocytosis, Episodic hemoly...	OMIM:210250
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Microphthalmia, Isolated, With Cataract 1	Microphthalmia	OMIM:156850
Nanophthalmos 2	Microphthalmia	OMIM:609549
Tuberous Sclerosis Complex	Renal insufficiency, Abnormality of the kidney, Respiratory tract infection, Pancreatic endocrine...	ORPHA:805
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, T...	OMIM:603552
Immunodeficiency 76	Splenomegaly, Recurrent pneumonia, Lymphadenopathy, T lymphocytopenia, Colitis, B lymphocytopenia...	OMIM:619164
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Ascites, Polycystic liver disease, Renal cyst, Increased total bilirubin	OMIM:174050
Papillary Tumor Of The Pineal Region	Hydrocephalus, Increased CSF protein concentration	ORPHA:251915
Cerebrooculofacioskeletal Syndrome 3	Microphthalmia, Ventriculomegaly, Cleft palate	OMIM:616570
Arima Syndrome	Dilated fourth ventricle, Hepatomegaly, Occipital meningocele, Proteinuria, Polyuria, Esophageal ...	OMIM:243910
Hemochromatosis, Type 2A	Hepatomegaly, Hypogonadotropic hypogonadism, Increased circulating ferritin concentration, Spleno...	OMIM:602390
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Recurrent respiratory infections, Hepatomegaly, Glomerulonephritis, Decreased proportion of margi...	OMIM:619375
Glycogen Storage Disease Vi	Hepatomegaly, Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia, Increased hepatic glyco...	OMIM:232700
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Hamartoma of tongue, Hydrocephalus, Anencephaly, Cleft palate, Pulmonary hypoplasia, Polycystic k...	OMIM:616546
Microcephaly-Microcornea Syndrome, Seemanova Type	Microphthalmia, High palate, Hypogonadism	ORPHA:2528
Alexander Disease	Hydrocephalus, Increased CSF protein concentration	OMIM:203450
Lipodystrophy, Congenital Generalized, Type 3	Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Splenomegaly, Primary amenorrhea, Hepatosp...	OMIM:612526
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Intestinal malrotation, Hamartoma of tongue, Cleft palate, Polycystic kidney dysplasia, Ambiguous...	OMIM:613091
Activated Pi3K-Delta Syndrome	Hepatomegaly, Pneumonia, Splenomegaly, Recurrent tonsillitis, Bronchiectasis, Lymphadenopathy, Ab...	ORPHA:397596
Greig Cephalopolysyndactyly Syndrome	Hydrocephalus, Agenesis of corpus callosum	ORPHA:380
Mckusick-Kaufman Syndrome	Hydroureter, Aganglionic megacolon, Cryptorchidism, Transverse vaginal septum, Hydrometrocolpos, ...	OMIM:236700
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Hypoplasia of penis, Hypospadias, Renal hypoplasia/aplasia, Splenomegaly, Abnormality of the uret...	ORPHA:1046
Immunodeficiency 91 And Hyperinflammation	Hepatomegaly, Renal insufficiency, Membranoproliferative glomerulonephritis, Neutrophilia, Elevat...	OMIM:619644
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased proportion of CD4-positive T cells, Recurrent respiratory infections, Autoimmune thromb...	OMIM:300853
Hypogonadism, Male	Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy	OMIM:241100
Gracile Bone Dysplasia	Asplenia, Hydrocephalus, Hypoplastic spleen, Hypocalcemia, Aniridia, Microphthalmia, Micropenis, ...	OMIM:602361
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy	Lateral ventricle dilatation	OMIM:619972
Bronchogenic Cyst	Abnormal peritoneum morphology, Pulmonary cyst, Abnormal pericardium morphology, Pneumonia, Abnor...	ORPHA:2357
Congenital Disorder Of Glycosylation, Type Iil	Hepatomegaly, Pancytopenia, Ventriculomegaly, Ventricular septal defect, Elevated circulating cre...	OMIM:614576
Hemochromatosis, Type 2B	Hepatomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Sple...	OMIM:613313
Cholesteryl Ester Storage Disease	Decreased HDL cholesterol concentration, Adrenal calcification, Bone-marrow foam cells, Leukopeni...	OMIM:278000
Temple Syndrome	Hypertriglyceridemia, Maturity-onset diabetes of the young, Precocious puberty, Cryptorchidism, H...	OMIM:616222
Aicardi-Goutieres Syndrome 4	Hydrocephalus, Ventriculomegaly, CSF lymphocytic pleiocytosis	OMIM:610333
Granulomatous Slack Skin	Nephrocalcinosis, Acute kidney injury, Hypercalcemia, Abnormal lymph node morphology	ORPHA:33111
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Ventricular septal defect, Abnormally large globe, Cryptorchidism, Pancreatic lymph...	ORPHA:1655
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Ventricular septal defect, Unilateral renal agenesis, Cryptorchidism, High, narrow palate, Renal ...	OMIM:618494
Intellectual Developmental Disorder, Autosomal Dominant 39	Hydrocephalus, Obesity	OMIM:616521
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine...	OMIM:612925
Microphthalmia, Syndromic 9	Anophthalmia, Agenesis of pulmonary vessels, Pulmonary artery atresia, Atrial septal defect, Pelv...	OMIM:601186
Microphthalmia, Isolated 4	Microphthalmia, Absent testis	OMIM:613094
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Dandy-Walker malformation	OMIM:613153
Hemiparkinsonism-Hemiatrophy Syndrome	Lateral ventricle dilatation	ORPHA:306669
Trichohepatoenteric Syndrome 1	Hypospadias, Ventricular septal defect, Increased mean platelet volume, Splenomegaly, Pulmonic st...	OMIM:222470
Serrated Polyposis Syndrome	Pancreatic adenocarcinoma, Biliary tract neoplasm, Gastric diverticulum, Adenomatous colonic poly...	ORPHA:157798
Bernard-Soulier Syndrome	Decreased platelet glycoprotein Ib-IX-V, Macrothrombocytopenia, Giant platelets, Menorrhagia, Imp...	ORPHA:274
Cockayne Syndrome Type 1	Hepatomegaly, Renal insufficiency, Anophthalmia, Proteinuria, Cryptorchidism, Increased blood ure...	ORPHA:90321
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Hypoplasia of penis, Anophthalmia, Ventricular septal defect, Hypospadias, Cryptorchidism, Esopha...	ORPHA:77298
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Recurrent respiratory infections, Recurrent sinopulmonary infections, Splenomegaly, Bronchiectasi...	OMIM:615513
Xk Aprosencephaly Syndrome	Abnormal external genitalia, Ventricular septal defect, Atrial septal defect, Microphthalmia, Ana...	ORPHA:3469
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Decreased glome...	OMIM:618061
Hereditary Renal Hypouricemia	Hypouricemia, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Mild proteinuri...	ORPHA:94088
Trisomy 13	Anophthalmia, Ventricular septal defect, Cryptorchidism, High, narrow palate, Abnormality of the ...	ORPHA:3378
Genitopalatocardiac Syndrome	Ventricular septal defect, Hypospadias, Renal cyst, Cleft palate, Transposition of the great arte...	OMIM:231060
Orofaciodigital Syndrome I	Proteinuria, Hamartoma of tongue, Pancreatic cysts, Myelomeningocele, Hydrocephalus, Cleft palate...	OMIM:311200
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase...	OMIM:617514
Hydrocephalus, Congenital, 4	Communicating hydrocephalus, Ventriculomegaly	OMIM:618667
Congenital Disorder Of Glycosylation, Type Ib	Hepatomegaly, Villous atrophy, Renal cyst, Proximal tubulopathy, Hypoalbuminemia, Protein-losing ...	OMIM:602579
Vacterl/Vater Association	Bifid scrotum, Occipital encephalocele, Hypoplasia of penis, Ectopic kidney, Abnormality of the u...	ORPHA:887
Emanuel Syndrome	Recurrent respiratory infections, Ventriculomegaly, Recurrent urinary tract infections, Ventricul...	OMIM:609029
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine...	OMIM:612926
Meckel Syndrome, Type 4	Encephalocele, Ventricular septal defect, Hydrocephalus, Meningocele, Anencephaly, Cleft palate, ...	OMIM:611134
Ritscher-Schinzel Syndrome 1	Dandy-Walker malformation, Ventricular septal defect, Decreased response to growth hormone stimul...	OMIM:220210
Leukoencephalopathy, Progressive, With Ovarian Failure	Lateral ventricle dilatation	OMIM:615889
Fanconi Anemia, Complementation Group B	Ventriculomegaly, Hypergonadotropic hypogonadism, Ventricular septal defect, Aplastic anemia, Opt...	OMIM:300514
Phelan-Mcdermid Syndrome	Ventricular septal defect, Abnormality of the kidney, High palate, Gastroesophageal reflux, Polyc...	OMIM:606232
Microcephaly, Epilepsy, And Diabetes Syndrome 2	Lateral ventricle dilatation, Small for gestational age	OMIM:619278
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Acute pancreatitis, Anal fissure, Perianal abscess, Lymphadenitis, Splenomegaly...	OMIM:618935
3C Syndrome	Hypoplasia of penis, Adrenal hypoplasia, High, narrow palate, Abnormal tricuspid valve morphology...	ORPHA:7
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Elevated circulating creatine kinase concentration, Dysmenorrhea, Hepatic fibrosis, Hepatic steat...	ORPHA:264580
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Elevated proportion of C...	OMIM:619802
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine...	OMIM:612924
Ventriculomegaly With Defects Of The Radius And Kidney	Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation	OMIM:602200
Hajdu-Cheney Syndrome	Ventricular septal defect, Hypospadias, Intestinal malrotation, Cryptorchidism, Hydrocephalus, Re...	OMIM:102500
Marden-Walker Syndrome	Hypospadias, Dextrocardia, Cryptorchidism, High, narrow palate, Pyloric stenosis, Renal hypoplasi...	OMIM:248700
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Lymphadenopathy, Neph...	ORPHA:100024
Fryns Syndrome	Multicystic kidney dysplasia, Dandy-Walker malformation, Hypospadias, Aganglionic megacolon, Inte...	ORPHA:2059
Temple Syndrome	Cryptorchidism, Hydrocephalus, Small for gestational age, Obesity	ORPHA:254516
Cat-Eye Syndrome	Renal hypoplasia/aplasia, Abnormal localization of kidney, Microphthalmia, Hydronephrosis, Anal a...	ORPHA:195
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Bronchiectasi...	OMIM:619220
Coach Syndrome 1	Encephalocele, Hepatomegaly, Occipital encephalocele, Unilateral renal agenesis, Portal hypertens...	OMIM:216360
Greig Cephalopolysyndactyly Syndrome	Cryptorchidism, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	OMIM:175700
Congenital Rubella Syndrome	Hepatomegaly, Ventricular septal defect, Splenomegaly, Thrombocytopenia, Jaundice, Aplasia/Hypopl...	ORPHA:290
Renal Hypodysplasia/Aplasia 3	Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Abnormality of t...	OMIM:617805
Paternal Uniparental Disomy Of Chromosome 1	Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Increased blood urea nitrog...	ORPHA:251004
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Malabsorption, Conjugated hyperbilirubinemia, Splenomegaly, Hyperlipidemia, Jaundic...	OMIM:214900
Melanosis, Neurocutaneous	Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation	OMIM:249400
Galactokinase Deficiency	Hepatomegaly, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Hyperinsulinemia, ...	ORPHA:79237
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Dilated fourth ventricle, Lateral ventricle dilatation, Ventriculomegaly	OMIM:613443
Cortical Dysplasia, Complex, With Other Brain Malformations 9	Hydrocephalus	OMIM:618174
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Cryptorchidism, Hydrocephalus, Obesity	OMIM:601794
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Macroorchidism, Hydrocephalus	OMIM:300886
Desmoplastic Small Round Cell Tumor	Neoplasm of the pancreas, Hepatomegaly, Abnormal peritoneum morphology, Testicular neoplasm, Medi...	ORPHA:83469
Coach Syndrome 2	Hydrocephalus, Agenesis of corpus callosum	OMIM:619111
Trisomy 1Q	Multicystic kidney dysplasia, Small scrotum, Ventricular septal defect, Ventriculomegaly, Anophth...	ORPHA:261344
Pleural Mesothelioma	Hepatomegaly, Abnormal pleura morphology, Abnormal lung morphology, Lymphadenopathy, Dysphagia, P...	ORPHA:50251
Joubert Syndrome 37	Decreased testicular size, Hepatomegaly, Cryptorchidism, High palate, Microphthalmia, Micropenis,...	OMIM:619185
Pfapa Syndrome	Hepatomegaly, Malabsorption, Splenomegaly, Recurrent pharyngitis, Lymphadenopathy	ORPHA:42642
Pierpont Syndrome	Microphthalmia, Cryptorchidism, Ventriculomegaly	ORPHA:487825
Neural Tube Defects, Susceptibility To	Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly	OMIM:182940
Lymphoproliferative Syndrome, X-Linked, 2	Recurrent respiratory infections, Hepatomegaly, Hypertriglyceridemia, Aplastic anemia, Pancytopen...	OMIM:300635
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Hypoplasia of penis, Hydroureter, Abnormality of the upper urinary tract, Duodenal stenosis, Abno...	ORPHA:2547
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Pneumonia, Eosinophilia, Genita...	OMIM:602450
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Hydrocephalus, Ventriculomegaly	OMIM:602501
Oculocerebrocutaneous Syndrome	Anophthalmia, Cryptorchidism, Orbital encephalocele, Cleft palate, Microphthalmia, Dandy-Walker m...	OMIM:164180
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Recurrent urinary tract infections, Hypouricemia, Pneumonia, Increas...	OMIM:613179
Immunodeficiency With Hyper-Igm, Type 5	Recurrent upper and lower respiratory tract infections, Epididymitis, Lymphadenopathy	OMIM:608106
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Generalized lymphadenopathy, Hypertriglyceridemia, Splenomegaly, Bronchiectasis, Re...	OMIM:620282
Pontocerebellar Hypoplasia, Type 1A	Lateral ventricle dilatation, Basal ganglia gliosis	OMIM:607596
Lissencephaly 5	Occipital encephalocele, Hydrocephalus	OMIM:615191
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Hypospadias, Increased mean platelet volume, Abnormality of the endocrine system, Abnormal heart ...	ORPHA:487796
Warburg Micro Syndrome 1	Microphthalmia, Cryptorchidism, Enlarged sylvian cistern, External genital hypoplasia	OMIM:600118
Krabbe Disease	Hydrocephalus, Failure to thrive, Increased CSF protein concentration	OMIM:245200
Meckel Syndrome	Ureteral duplication, Anophthalmia, Asplenia, Urethral atresia, Dandy-Walker malformation, Access...	ORPHA:564
Pallister-Hall-Like Syndrome	Occipital encephalocele, Hydrocephalus, Glioma, Hypothalamic hamartoma	OMIM:241800
Hardikar Syndrome	Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vesicoureteral reflux, Atrial septal...	OMIM:301068
Symptomatic Form Of Hfe-Related Hemochromatosis	Cholangiocarcinoma, Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Portal hypert...	ORPHA:465508
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Hydrocephalus	ORPHA:83473
Thrombotic Thrombocytopenic Purpura, Hereditary	Reticulocytosis, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Jaundice, Schistocytos...	OMIM:274150
Immunodeficiency 27A	Pneumonia, Splenomegaly, Leukocytosis, Lymphadenopathy, Enlarged mesenteric lymph node, Hepatospl...	OMIM:209950
Pseudotrisomy 13 Syndrome	Encephalocele, Ventricular septal defect, Dextrocardia, Renal agenesis, Adrenal hypoplasia, Compl...	OMIM:264480
Williams-Beuren Region Duplication Syndrome	Small for gestational age, Cryptorchidism, Hydrocephalus, Failure to thrive, Ventriculomegaly	OMIM:609757
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis	Hydrocephalus	ORPHA:1516
Heme Oxygenase 1 Deficiency	Hemolytic anemia, Hepatomegaly, Proteinuria, Elevated circulating C-reactive protein concentratio...	OMIM:614034
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Hydrocephalus, Agenesis of corpus callosum	OMIM:617542
Hypertriglyceridemia 2	Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:619324
Meckel Syndrome, Type 2	Encephalocele, Intestinal malrotation, Meningocele, Anencephaly, Cleft palate, Renal cyst, Bile d...	OMIM:603194
Thyroid Hormone Metabolism, Abnormal, 2	Hypercholesterolemia, Elevated circulating rT3/T3 ratio, Elevated circulating reverse T3 concentr...	OMIM:619855
Hypothyroidism, Congenital, Nongoitrous, 8	Inappropriately normal thyroid-stimulating hormone level, Secondary amenorrhea, Central hypothyro...	OMIM:301033
Crouzon Syndrome With Acanthosis Nigricans	Hydrocephalus	OMIM:612247
Pierpont Syndrome	Microphthalmia, Cryptorchidism, Micropenis	OMIM:602342
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Ventricular septal defect, Splenomegaly, Hydrocephalus, Chronic kidney disease, Cho...	OMIM:615630
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity	Hydrocephalus	OMIM:615599
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Hepatomegaly, Atrophic gastritis, Psoriasiform dermatitis, Autoimmune hemolytic anemia, Pneumonia...	ORPHA:436159
Harderoporphyria	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Increased urine harderoporphyrin level, Increase...	OMIM:618892
Fanconi Anemia, Complementation Group F	Decreased response to growth hormone stimulation test, Pneumonia, Cryptorchidism, Thrombocytopeni...	OMIM:603467
Developmental And Epileptic Encephalopathy 1	Microphthalmia, Micropenis, Ventriculomegaly, Dysphagia	OMIM:308350
Tetraamelia-Multiple Malformations Syndrome	Multicystic kidney dysplasia, Septo-optic dysplasia, Cryptorchidism, Hydrocephalus, Abnormal lung...	ORPHA:3301
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Hepatomegaly, Atrophic gastritis, Psoriasiform dermatitis, Autoimmune hemolytic anemia, Autoimmun...	OMIM:616100
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Hydrocephalus	ORPHA:397951
Lathosterolosis	Bilobate gallbladder, Increased mean platelet volume, Acanthocytosis, Schistocytosis, Anisopoikil...	OMIM:607330
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Reticulocytosis, Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Schistocytosis, Elevated circ...	OMIM:235400
Nephrotic Syndrome, Type 11	Diffuse mesangial sclerosis, Ventricular septal defect, Proteinuria, Minimal change glomeruloneph...	OMIM:616730
Glycogen Storage Disease Ixa1	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hyperuricemia, Hypercholesterolemia	OMIM:306000
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Genitopalatocardiac Syndrome	Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Male pseudohermaphroditism, Abnormal m...	ORPHA:2075
Congenital Muscular Dystrophy, Fukuyama Type	Hydrocephalus, Ventriculomegaly	ORPHA:272
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Increa...	OMIM:267700
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	OMIM:109120
Renal Tubular Dysgenesis	Renotubular dysgenesis, Proximal tubulopathy, Multiple renal cysts, Pulmonary hypoplasia, Nephrop...	ORPHA:3033
Immunodeficiency, Common Variable, 2	Hepatomegaly, Follicular hyperplasia, Splenomegaly, Recurrent pneumonia, Bronchiectasis, Lymphade...	OMIM:240500
Orthostatic Hypotension 1	Reduced circulating prolactin concentration, Increased blood urea nitrogen, Retrograde ejaculatio...	OMIM:223360
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities	Lateral ventricle dilatation	OMIM:617668
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatomegaly, Ventricular septal defect, Thyroid lymphangiectasia, Cryptorchidism, Pancreatic lym...	OMIM:235255
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Hypospadias, Renal agenesis, Cryptorchidism, Hydrocephalus, Renal hypoplasia, Micropenis	ORPHA:171839
Congenital Bile Acid Synthesis Defect Type 2	Dark urine, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, Conjugated hyperbil...	ORPHA:79303
Emanuel Syndrome	High palate, Gastroesophageal reflux, Atrial septal defect, Micropenis, Bifid uvula, Dandy-Walker...	ORPHA:96170
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease	Hepatic cysts, Polycystic kidney dysplasia	OMIM:600666
Idiopathic Steroid-Resistant Nephrotic Syndrome	Diffuse mesangial sclerosis, Hypertriglyceridemia, Foamy urine, Proteinuria, Minimal change glome...	ORPHA:567548
Pallister-Hall Syndrome	Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st...	OMIM:146510
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity	Lateral ventricle dilatation	OMIM:618890
Spinocerebellar Ataxia Type 32	Male infertility, Azoospermia, Testicular atrophy	ORPHA:276183
Global Developmental Delay With Or Without Impaired Intellectual Development	Lateral ventricle dilatation	OMIM:618330
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Ventricular septal defect, Cryptorchidism, Muscular ventricular septal defect, Hydrocephalus, Ren...	OMIM:210710
Pentalogy Of Cantrell	Encephalocele, Absent gallbladder, Ventricular septal defect, Abnormal pericardium morphology, Hy...	ORPHA:1335
6P22 Microdeletion Syndrome	Hydrocephalus	ORPHA:251046
Spinocerebellar Ataxia 32	Azoospermia, Testicular atrophy, Infertility	OMIM:613909
Fanconi Anemia, Complementation Group I	Ventricular septal defect, Decreased response to growth hormone stimulation test, Optic nerve hyp...	OMIM:609053
Alg2-Cdg	Lateral ventricle dilatation	ORPHA:79326
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Elevated circulating creatine kinase concentration, Hydrocephalus, Macroglossia, Cardiomyopathy, ...	OMIM:613155
Microphthalmia-Brain Atrophy Syndrome	Lateral ventricle dilatation	ORPHA:77299
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Lateral ventricle dilatation, Spina bifida occulta, Agenesis of corpus callosum, Dandy-Walker mal...	OMIM:618736
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Lateral ventricle dilatation, Gliosis	OMIM:221770
Combined Immunodeficiency Due To Zap70 Deficiency	Autoimmune hemolytic anemia, Pneumonia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8...	ORPHA:911
Lysinuric Protein Intolerance	Decreased HDL cholesterol concentration, Decreased response to growth hormone stimulation test, T...	ORPHA:470
Dandy-Walker Malformation With Postaxial Polydactyly	Dilated fourth ventricle, Hydrocephalus, Dandy-Walker malformation	OMIM:220220
Meckel Syndrome, Type 10	Dilated fourth ventricle, Occipital encephalocele, Hypospadias, Malformation of the hepatic ducta...	OMIM:614175
Chiari Malformation Type Ii	Spina bifida, Hydrocephalus, Myelomeningocele, Cervical myelopathy, Agenesis of corpus callosum	OMIM:207950
Nephronophthisis 20	Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral...	OMIM:617271
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	ORPHA:163961
Fanconi Anemia, Complementation Group D2	Ectopic kidney, Reticulocytopenia, Neutropenia, Micropenis, Pelvic kidney, Renal duplication, Cry...	OMIM:227646
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Hydrocephalus, Hydranencephaly, Dandy-Walker malformation, Agenesis of corpus callosum, Ventricul...	OMIM:225790
Diarrhea 7, Protein-Losing Enteropathy Type	Villous atrophy, Hyperlipidemia, Hypoalbuminemia, Protein-losing enteropathy, Hypercholesterolemia	OMIM:615863
Holoprosencephaly-Postaxial Polydactyly Syndrome	Encephalocele, Hypoplasia of penis, Hypospadias, Intestinal malrotation, Adrenal hypoplasia, Rena...	ORPHA:2166
Meckel Syndrome, Type 6	Abnormal internal genitalia, Absent gallbladder, Occipital encephalocele, Hydrocephalus, Bilobed ...	OMIM:612284
Nasu-Hakola Disease	Hydrocephalus, Ventriculomegaly	ORPHA:2770
Dworschak-Punetha Neurodevelopmental Syndrome	Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum	OMIM:619955
Congenital Generalized Lipodystrophy	Hepatomegaly, Overgrowth of external genitalia, Hypertriglyceridemia, Precocious puberty in femal...	ORPHA:528
Rere-Related Neurodevelopmental Syndrome	Ventricular septal defect, Hypospadias, Cryptorchidism, Abnormal heart morphology, Gastroesophage...	ORPHA:494344
Indomethacin Embryofetopathy	Renal insufficiency, Multicystic kidney dysplasia, Ventricular septal defect, Cardiomyopathy, Atr...	ORPHA:1909
Hogue-Janssen Syndrome 2	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	OMIM:616362
Lymphangioleiomyomatosis	Gastrointestinal hemorrhage, Abnormal urinary color, Recurrent respiratory infections, Renal neop...	ORPHA:538
Oculogastrointestinal Neurodevelopmental Syndrome	Bicuspid aortic valve, Bilateral microphthalmos, Unilateral microphthalmos, Horseshoe kidney, Vag...	OMIM:619318
Ornithine Transcarbamylase Deficiency	Splenomegaly, Pyloric stenosis, Aminoaciduria, Hyperammonemia	ORPHA:664
Smith-Lemli-Opitz Syndrome	Bifid scrotum, Small scrotum, Gastrointestinal dysmotility, Abnormal lung lobation, Renal cyst, H...	OMIM:270400
Sitosterolemia 2	Elevated circulating sitosterol concentration, Hypercholesterolemia	OMIM:618666
Immunodeficiency With Hyper-Igm, Type 2	Recurrent respiratory infections, Recurrent upper and lower respiratory tract infections, Recurre...	OMIM:605258
Acrorenal-Mandibular Syndrome	Absent nipple, Renal agenesis, Abnormality of the ureter, Uterus didelphys, Narrow palate, Bicorn...	OMIM:200980
Follicular Lymphoma	Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Pleur...	ORPHA:545
Paroxysmal Nocturnal Hemoglobinuria	Odynophagia, Hemoglobinuria, Leukopenia, Renal Fanconi syndrome, Erythroid hyperplasia, Hemolytic...	ORPHA:447
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Maturity-onset diabetes of the young, Precocious puberty, Cryptorchidism, Pyloric stenosis, Cleft...	ORPHA:96184
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Chronic kidney disease, Elevated circulating creatinine concentration, Renal cyst, Focal segmenta...	OMIM:617056
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, H...	ORPHA:247598
Fryns Syndrome	Bifid scrotum, Ureteral duplication, Ectopic pancreatic tissue, Renal cyst, Atrial septal defect,...	OMIM:229850
Congenital Disorder Of Glycosylation, Type Iip	Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi...	OMIM:616829
Roberts Syndrome	Cryptorchidism, Thrombocytopenia, Long penis, Cleft palate, High palate, Polycystic kidney dyspla...	ORPHA:3103
Thomas Syndrome	Multicystic kidney dysplasia, Hypoplastic left heart, Cleft palate, Renal hypoplasia/aplasia	ORPHA:3316
Whipple Disease	Hyponatremia, Gastrointestinal hemorrhage, Pericarditis, Hepatomegaly, Malabsorption, Myocarditis...	ORPHA:3452
Hyperbilirubinemia, Shunt, Primary	Hepatomegaly, Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Hyperbili...	OMIM:237800
Meckel Syndrome, Type 9	Ambiguous genitalia, Occipital encephalocele, Multicystic kidney dysplasia	OMIM:614209
Cofs Syndrome	Microphthalmia, Hypogonadism	ORPHA:1466
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies	Colpocephaly	OMIM:618731
Cat Eye Syndrome	Biliary atresia, Vesicoureteral reflux, Atrial septal defect, Total anomalous pulmonary venous re...	OMIM:115470
Systemic Sclerosis	Elevated circulating creatine kinase concentration, Intestinal bleeding, Interstitial cardiac fib...	ORPHA:90291
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:86893
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Colpocephaly	OMIM:620156
X-Linked Parkinsonism-Spasticity Syndrome	Lateral ventricle dilatation, Dilated third ventricle	ORPHA:363654
Legionnaires Disease	Hyponatremia, Pericarditis, Renal insufficiency, Proteinuria, Abnormal pleura morphology, Myocard...	ORPHA:549
Coronary Artery Disease, Autosomal Dominant, 1	Hypercholesterolemia, Diabetes mellitus	OMIM:608320
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Recurrent infections due to aspiration, Elevated circulating creatinine concentration, Gastroesop...	OMIM:223900
Renal Dysplasia, Cystic, Susceptibility To	Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal...	OMIM:601331
Immunodeficiency, Common Variable, 1	Hepatomegaly, Pneumonia, Splenomegaly, Recurrent pneumonia, Bronchiectasis, Neutropenia in presen...	OMIM:607594
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Abnormal blood ion concentration, Tubulointerstitial nephritis, Iron deficiency anemia, Colitis, ...	ORPHA:37042
Heterotaxy, Visceral, 1, X-Linked	Cardiomegaly, Asplenia, Aqueductal stenosis, Biliary atresia, Dextrotransposition of the great ar...	OMIM:306955
Lig4 Syndrome	Hepatomegaly, Hypoplasia of penis, Pancytopenia, Malabsorption, Cryptorchidism, Leukocytosis, Lym...	ORPHA:99812
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Cryptorchidism, Hydrocephalus, Pulmonic stenosis, Webbed neck, Hypertrophic cardiomyopathy	ORPHA:2701
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Portal hypertension, Conjugat...	OMIM:619662
Floating-Harbor Syndrome	Hypospadias, Renal agenesis, Precocious puberty, Cryptorchidism, Celiac disease, Dilatation of th...	ORPHA:2044
Encephalocraniocutaneous Lipomatosis	Dandy-Walker malformation, Ventricular septal defect, Cryptorchidism, Hydrocephalus, Hypoplasia o...	OMIM:613001
Rhabdoid Tumor	Renal neoplasm, Hypercalcemia, Thrombocytopenia, Lymphadenopathy, Hematuria, Neoplasm of the live...	ORPHA:69077
Lymphoproliferative Syndrome, X-Linked, 1	Recurrent respiratory infections, Hepatomegaly, Pancytopenia, Aplastic anemia, Elevated circulati...	OMIM:308240
Acute Interstitial Pneumonia	Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Elevated circulat...	ORPHA:79126
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio...	OMIM:308700
Rhyns Syndrome	Hypopituitarism, Abnormality of the liver, Multicystic kidney dysplasia, Nephronophthisis	ORPHA:140976
Neurodevelopmental Disorder With Seizures And Brain Abnormalities	Lateral ventricle dilatation, Partial agenesis of the corpus callosum	OMIM:619517
Kimura Disease	Eosinophilia, Abnormal salivary gland morphology, Lymphadenopathy, Follicular hyperplasia	ORPHA:482
Kleefstra Syndrome	Recurrent respiratory infections, Hypoplasia of penis, Renal insufficiency, Ventricular septal de...	ORPHA:261494
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Dysmenorr...	ORPHA:79240
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Truncus arteriosus, Hepatic cysts, Malformation of the hepatic ductal plate, Situs ...	OMIM:615415
Adams-Oliver Syndrome 2	Hydrocephalus, Lateral ventricle dilatation	OMIM:614219
Mixed Connective Tissue Disease	Gastrointestinal hemorrhage, Hemolytic anemia, Pericarditis, Hepatomegaly, Gastritis, Myocarditis...	ORPHA:809
Premature Ovarian Failure 12	Microphthalmia, Primary amenorrhea	OMIM:616947
Hydrolethalus	Cryptorchidism, Hydrocephalus, Anencephaly, Agenesis of corpus callosum, Tracheal atresia	ORPHA:2189
Cog4-Cdg	Recurrent upper respiratory tract infections, Hepatosplenomegaly, Cirrhosis, Hypercholesterolemia...	ORPHA:263501
Joubert Syndrome 18	Occipital encephalocele, Ventricular septal defect, Cleft palate, Renal cyst, Horseshoe kidney, L...	OMIM:614815
Edinburgh Malformation Syndrome	Hydrocephalus, Failure to thrive	ORPHA:1895
Xanthomatosis, Susceptibility To	Hypercholesterolemia	OMIM:602247
Short-Rib Thoracic Dysplasia 12	Hepatomegaly, Ventricular septal defect, Intestinal malrotation, Hamartoma of tongue, Atelectasis...	OMIM:269860
Chromosome 13Q33-Q34 Deletion Syndrome	Bifid scrotum, Encephalocele, Hypospadias, Cryptorchidism, Penoscrotal transposition, Pyloric ste...	OMIM:619148
Microphthalmia, Isolated, With Coloboma 4	Microphthalmia	OMIM:251505
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia	OMIM:251700
Polymicrogyria Due To Tubb2B Mutation	Lateral ventricle dilatation, Agenesis of corpus callosum	ORPHA:300573
Cholestasis-Lymphedema Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Splenomegaly, Hyperlipidemia, Abn...	ORPHA:1414
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatomegaly, Elevated circulating creatine kinase concentration, Lymphadenitis, Splenomegaly, Di...	OMIM:615895
Meckel Syndrome, Type 3	Hepatomegaly, Multicystic kidney dysplasia, Occipital encephalocele, Malformation of the hepatic ...	OMIM:607361
Czeizel-Losonci Syndrome	Dextrocardia, Spina bifida, Myelomeningocele, Hydrocephalus, Tracheoesophageal fistula, Ureteral ...	ORPHA:2437
Kaposiform Lymphangiomatosis	Metrorrhagia, Pericardial effusion, Pancreatic cysts, Abnormal lung morphology, Splenomegaly, Abn...	ORPHA:464329
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Colpocephaly, Hydrocephalus, Failure to thrive, Ventriculomegaly	OMIM:619833
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Polycystic liver disease, Recurrent urinary tract infections, Hepatic cysts,...	ORPHA:730
Neurooculocardiogenitourinary Syndrome	Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Atrial septal defect, Micropht...	OMIM:618652
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Hydrocephalus	ORPHA:99947
Mosaic Variegated Aneuploidy Syndrome 1	Bifid scrotum, Ambiguous genitalia, Multicystic kidney dysplasia, Hypospadias, Ventriculomegaly, ...	OMIM:257300
Glutaric Acidemia I	Hydrocephalus, Failure to thrive, Lateral ventricle dilatation	OMIM:231670
Renal Hypoplasia, Bilateral	Hyponatremia, Proteinuria, Cryptorchidism, Chronic kidney disease, Hyperkalemia, Renal hypoplasia...	ORPHA:97362
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy	OMIM:618852
Squamous Cell Carcinoma Of The Anal Canal	Anal stenosis, Rectal prolapse, Lymphadenopathy, Neoplasm of the rectum, Neoplasm of the liver, I...	ORPHA:424019
Immunodeficiency 54	Recurrent respiratory infections, Hepatomegaly, Splenomegaly, Lymphadenopathy, Adrenocorticotropi...	OMIM:609981
Adams-Oliver Syndrome 4	Atrial septal defect, Microphthalmia, Ventricular septal defect	OMIM:615297
Wolfram Syndrome 1	Sideroblastic anemia, Neurogenic bladder, Hydroureter, Diabetes mellitus, Diabetes insipidus, Meg...	OMIM:222300
Hydrocephalus, Congenital, 5, Susceptibility To	Aqueductal stenosis, Noncommunicating hydrocephalus	OMIM:620241
Familial Hemophagocytic Lymphohistiocytosis	Hepatomegaly, Hypertriglyceridemia, Increased circulating ferritin concentration, Splenomegaly, T...	ORPHA:540
Autoimmune Lymphoproliferative Syndrome, Type Iia	Gastrointestinal hemorrhage, Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lym...	OMIM:603909
Lymphoproliferative Syndrome 1	Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein ...	OMIM:613011
Birt-Hogg-Dube Syndrome 1	Multiple pulmonary cysts, Renal neoplasm, Spontaneous pneumothorax, Renal cyst, Renal cell carcin...	OMIM:135150
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune hemolytic anemia, Absence of lymph node germinal center, Autoimmune thrombocytopenia, ...	OMIM:608184
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Lateral ventricle dilatation, Failure to thrive in infancy	ORPHA:284417
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Bronchiectasis, Hepatosplenomegaly, Increased proportion of memory T cells, Lymphadenopathy, Incr...	OMIM:618982
Cholesterol-Ester Transfer Protein Deficiency	Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi...	ORPHA:79506
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal B cell count, Decreased serum iron, Hypereosinophilia, Lymphadenopathy, Abnormal proport...	OMIM:212050
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Papillary cystadenoma of the epididymis, Renal Fanconi syndrome, Hypothyroidism, Hepatic steatosi...	ORPHA:93111
Msh3-Related Attenuated Familial Adenomatous Polyposis	Ovarian dermoid cyst, Juvenile gastrointestinal polyposis, Adenomatous colonic polyposis, Multipl...	ORPHA:480536
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Dextrocardia, Esophageal atresia, Hydrocephalus, Tracheoesophageal fistula, Urethral atresia, Tra...	OMIM:314390
Thanatophoric Dysplasia Type 2	Encephalocele, Hydrocephalus, Holoprosencephaly, Ventriculomegaly	ORPHA:93274
Microphthalmia, Isolated, With Coloboma 6	Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia	OMIM:613703
Pparg-Related Familial Partial Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Dysmenorrhea, Maternal diabetes, Splenomeg...	ORPHA:79083
Dihydropyrimidine Dehydrogenase Deficiency	Microphthalmia, Uraciluria	OMIM:274270
Neurooculorenal Syndrome	Ectopic posterior pituitary, Decreased circulating cortisol level, Conjugated hyperbilirubinemia,...	OMIM:620305
Smith-Magenis Syndrome	Hypertriglyceridemia, Abnormality of the thyroid gland, Velopharyngeal insufficiency, Abnormal re...	OMIM:182290
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Communicating hydrocephalus, Hydrocephalus, Colpocephaly, Agenesis of corpus callosum, Ventriculo...	OMIM:615219
Peroxisome Biogenesis Disorder 12A (Zellweger)	Abnormality of the male genitalia, Hydrocephalus, Renal tubular dysfunction, Hyperbilirubinemia, ...	OMIM:614886
Intrinsic Factor Deficiency	Increased RBC distribution width, Megaloblastic anemia, Increased mean corpuscular volume, Megalo...	OMIM:261000
B4Galt1-Cdg	Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly, Hydrocephalus, De...	ORPHA:79332
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Recurrent respiratory infections, Autoimmune hemolytic anemia, Hepatomegaly, Recurrent urinary tr...	OMIM:618495
Dopamine Beta-Hydroxylase Deficiency	Elevated urinary dopamine level, Elevated circulating creatinine concentration, Nocturia, Hyperin...	ORPHA:230
Pagod Syndrome	Encephalocele, Multicystic kidney dysplasia, Spina bifida, Renal hypoplasia/aplasia, Situs invers...	ORPHA:991
Fanconi Anemia, Complementation Group R	Hydrocephalus, Bone marrow hypocellularity, Microphthalmia, Anal atresia, Pelvic kidney, Anemia	OMIM:617244
Congenital Disorder Of Glycosylation, Type Ia	Dilated fourth ventricle, Hepatomegaly, Pericarditis, Villous atrophy, Hypergonadotropic hypogona...	OMIM:212065
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Ventriculomegaly, Decreased response to growth hormone stimulation test, Decreased circulating pa...	OMIM:241410
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant	Impaired platelet aggregation, Macrothrombocytopenia	OMIM:613112
Craniosynostosis 6	Lateral ventricle dilatation, Spina bifida occulta, Agenesis of corpus callosum, Dandy-Walker mal...	OMIM:616602
Infundibulopelvic Dysgenesis	Multicystic kidney dysplasia, Microscopic hematuria	OMIM:600989
Fanconi Anemia	Leukopenia, Abnormality of the liver, High palate, Abnormality of the uterus, Atrial septal defec...	ORPHA:84
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Circulating nucleated red blood cells, Anisocytosis, Erythroi...	OMIM:613673
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Elevated circulating C-reactive protein concentration, Microcytic anemia, Recurrent pneumonia, He...	OMIM:619750
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Decreased fertility, Testicular atrophy, Elevated circulating creatine kinase concentration, Dysp...	OMIM:313200
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Microphthalmia, Hypogonadotropic hypogonadism, Ventriculomegaly	ORPHA:48431
Kennedy Disease	Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction	ORPHA:481
Lymphatic Filariasis	Proteinuria, Glomerulonephritis, Abnormality of the kidney, Orchitis, Lymphadenitis, Abnormal lun...	ORPHA:2035
Nephroblastoma	Lymphadenopathy, Hematuria, Neoplasm of the liver, Neoplasm of the lung, Aniridia, Nephroblastoma	ORPHA:654
Nanophthalmos	Microphthalmia	ORPHA:35612
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Hepatomegaly, Ketonuria, Renal hypoplasia, Increased CSF lactate, High palate, Microphthalmia, Hy...	OMIM:619053
Castleman Disease	Abnormality of the gastrointestinal tract, Renal insufficiency, Intestinal obstruction, Generaliz...	ORPHA:160
Dubin-Johnson Syndrome	Abnormal urinary color, Hepatomegaly, Conjugated hyperbilirubinemia, Abnormal gastric mucosa morp...	ORPHA:234
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Anemia, Leukopenia, Neutropenia, Enlarg...	OMIM:615285
Autoinflammation With Infantile Enterocolitis	Villous atrophy, Pancytopenia, Elevated circulating C-reactive protein concentration, Diffuse alv...	OMIM:616050
Fanconi Anemia, Complementation Group L	Unilateral renal agenesis, Esophageal atresia, Hydrocephalus, Renal hypoplasia, Tracheoesophageal...	OMIM:614083
Vacterl With Hydrocephalus	Anophthalmia, Renal agenesis, Spina bifida, Renal hypoplasia/aplasia, Aqueductal stenosis, Crypto...	ORPHA:3412
Hyperlipoproteinemia, Type Ii, And Deafness	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:144300
Roifman Syndrome	Noncompaction cardiomyopathy, Hypogonadotropic hypogonadism, Eosinophilia, Recurrent pneumonia, L...	ORPHA:353298
Familial Mediterranean Fever	Pericarditis, Intestinal obstruction, Proteinuria, Malabsorption, Orchitis, Splenomegaly, Periton...	ORPHA:342
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Increased CSF protein concentrati...	OMIM:603553
Caspase 8 Deficiency	Recurrent sinopulmonary infections, Pneumonia, Splenomegaly, Lymphadenopathy, Decreased CD4:CD8 r...	OMIM:607271
Functioning Gonadotropic Adenoma	Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose...	ORPHA:91348
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Hematuria, Microphthalmia, Cleft palate	OMIM:120433
Renal Cysts And Diabetes Syndrome	Renal cyst, Pancreatic hypoplasia, Atretic vas deferens, Hypospadias, Abnormality of the kidney, ...	OMIM:137920
Meckel Syndrome, Type 7	Multicystic kidney dysplasia, Multiple glomerular cysts, Portal hypertension, Situs inversus tota...	OMIM:267010
Microphthalmia, Syndromic 8	Microphthalmia, Cryptorchidism, Cleft palate	OMIM:601349
Microphthalmia, Isolated, With Coloboma 5	Microphthalmia, Bilateral microphthalmos, Anophthalmia, Holoprosencephaly	OMIM:611638
Intellectual Developmental Disorder, X-Linked 30	Hydrocephalus	OMIM:300558
Galloway-Mowat Syndrome 7	Diffuse mesangial sclerosis, Ventricular septal defect, Proteinuria, Minimal change glomeruloneph...	OMIM:618348
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia	ORPHA:1574
Roberts-Sc Phocomelia Syndrome	Accessory spleen, Ventricular septal defect, Hypospadias, Enlarged labia minora, Cryptorchidism, ...	OMIM:268300
Lowry-Maclean Syndrome	Hypospadias, Bilateral cryptorchidism, High, narrow palate, Pyloric stenosis, Midgut malrotation,...	ORPHA:2409
Walker-Warburg Syndrome	Hypoplasia of penis, Ventriculomegaly, Anophthalmia, Cryptorchidism, Hydrocephalus, Submucous cle...	ORPHA:899
Ras-Associated Autoimmune Leukoproliferative Disorder	Recurrent respiratory infections, Pancytopenia, Hemolytic anemia, Hepatomegaly, Follicular hyperp...	OMIM:614470
Kallmann Syndrome With Spastic Paraplegia	Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Unilateral...	OMIM:308750
Nephronophthisis 18	Hydrocephalus, Stage 5 chronic kidney disease, Cholestasis, Thickened glomerular basement membran...	OMIM:615862
Hyperinsulinemic Hypoglycemia, Familial, 8	Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, Hyperammonemia,...	OMIM:620211
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Sple...	OMIM:615234
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of	Megaloblastic anemia, Absence of intrinsic factor	OMIM:243320
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Splenomegaly, Increased circulati...	ORPHA:766
2Q24 Microdeletion Syndrome	Microphthalmia, Cleft palate	ORPHA:1617
Muscle-Eye-Brain Disease	Hydrocephalus, Meningocele, Holoprosencephaly	ORPHA:588
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Hydrocephalus	ORPHA:2181
Congenital Muscular Dystrophy With Cerebellar Involvement	Dilated fourth ventricle, Occipital encephalocele, Hydrocephalus, Agenesis of corpus callosum, Ve...	ORPHA:370959
Meckel Syndrome, Type 5	Occipital encephalocele, Anencephaly, Cleft palate, Renal cyst, Bile duct proliferation, Micropht...	OMIM:611561
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Hydrocephalus, Small for gestational age	OMIM:613330
Fraser Syndrome 2	Renal agenesis, Intestinal malrotation, Unilateral renal agenesis, Rectal atresia, Renal hypoplas...	OMIM:617666
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Dandy-Walker malformation, Hydrocephalus, Lateral ventricle dilatation, Dilated third ventricle, ...	OMIM:613154
Agammaglobulinemia, X-Linked	Recurrent urinary tract infections, Enteroviral hepatitis, Epididymitis, Cor pulmonale, Bronchiec...	OMIM:300755
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome	Multicystic kidney dysplasia, Multinodular goiter	ORPHA:2091
Hydrocephalus, Normal-Pressure, 1	Normal pressure hydrocephalus	OMIM:236690
Trichothiodystrophy 3, Photosensitive	Lymphopenia, Bilateral cryptorchidism, Pyloric stenosis, Abdominal adhesions, Neutropenia, Microp...	OMIM:616395
Zellweger Syndrome	Hepatomegaly, Multicystic kidney dysplasia, Hypospadias, Ventricular septal defect, Malabsorption...	ORPHA:912
Immunodeficiency, Common Variable, 8, With Autoimmunity	Atrophic gastritis, Villous atrophy, Generalized lymphadenopathy, Inflammation of the large intes...	OMIM:614700
Alagille Syndrome 2	Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Cholestasis, Hematuria, Renal tub...	OMIM:610205
L1 Syndrome	Aqueductal stenosis, Hydrocephalus	ORPHA:275543
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Villous atrophy, Ventriculomegaly, Glomerulonephritis, Eosinophilia, Autoimmune thrombocytopenia,...	OMIM:304790
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Intermittent jaundice, Hyperbilirubinemia, Reticulocytosis	OMIM:179700
Nephronophthisis 19	Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise...	OMIM:616217
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Hydrocephalus	OMIM:260500
Mosaic Variegated Aneuploidy Syndrome	Intestinal polyposis, Ambiguous genitalia, Multicystic kidney dysplasia, Ventriculomegaly, Vagina...	ORPHA:1052
Femoral-Facial Syndrome	Ventricular septal defect, Renal agenesis, Abnormal renal collecting system morphology, Maternal ...	OMIM:134780
Radial Aplasia, X-Linked	Hydrocephalus	OMIM:312190
Seckel Syndrome 2	Microphthalmia, Microglossia, Hypospadias, Ectopic kidney	OMIM:606744
Felty Syndrome	Recurrent respiratory infections, Pericarditis, Hepatomegaly, Recurrent urinary tract infections,...	ORPHA:47612
Pearson Syndrome	Decreased response to growth hormone stimulation test, Renal cyst, Abnormality of the liver, Hypo...	ORPHA:699
Developmental And Epileptic Encephalopathy 31B	Colpocephaly, Failure to thrive, Agenesis of corpus callosum, Ventriculomegaly	OMIM:620352
Optic Pathway Glioma	Hydrocephalus	ORPHA:2086
Stromme Syndrome	Accessory spleen, Jejunal atresia, Intestinal malrotation, Optic nerve hypoplasia, Hydrocephalus,...	OMIM:243605
Pseudomyxoma Peritonei	Abnormal peritoneum morphology, Intestinal obstruction, Lymphadenopathy, Inflammation of the larg...	ORPHA:26790
Fg Syndrome Type 1	Ventriculomegaly, Hypospadias, Optic nerve hypoplasia, Abnormal large intestine morphology, Malro...	ORPHA:93932
Fanconi Anemia, Complementation Group A	Duplicated collecting system, Male infertility, Pancytopenia, Hypergonadotropic hypogonadism, Ren...	OMIM:227650
Splenoportal Vascular Anomalies	Diabetes mellitus, Anomalous splenoportal venous system, Splenomegaly, Hyperammonemia, Hepatic fi...	OMIM:271500
Holoprosencephaly	Hypoplasia of penis, Anophthalmia, Abnormality of the spleen, Gastroesophageal reflux, Holoprosen...	ORPHA:2162
Thymic Neuroendocrine Tumor	Calcium nephrolithiasis, Pancreatic islet cell adenoma, Hypercalcemia, Pituitary null cell adenom...	ORPHA:97289
Pontocerebellar Hypoplasia, Type 13	Lateral ventricle dilatation, Failure to thrive, Dandy-Walker malformation	OMIM:618606
Hypocomplementemic Urticarial Vasculitis	Hepatomegaly, Renal insufficiency, Glomerulopathy, Abnormal heart valve morphology, Proteinuria, ...	ORPHA:36412
Igg4-Related Kidney Disease	Elevated circulating C-reactive protein concentration, Lymphadenitis, Abnormal lung morphology, R...	ORPHA:449395
Tetraamelia Syndrome 1	Hypoplasia of the fallopian tube, Renal agenesis, Absent external genitalia, Asplenia, Hydrocepha...	OMIM:273395
Adams-Oliver Syndrome 6	Ventricular septal defect, Portal hypertension, Splenomegaly, Esophageal varix, Renal hypoplasia,...	OMIM:616589
Oculoskeletodental Syndrome	Hepatomegaly, Renal agenesis, Hypercalcemia, Cryptorchidism, Splenomegaly, Hypercalciuria, Macrog...	OMIM:618440
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Pulmonary hypoplasia, Testicular atrophy, Intestinal malrotation	OMIM:601163
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult	Gastric ulcer, Gastric hypertrophy	OMIM:161700
Basel-Vanagaite-Smirin-Yosef Syndrome	Ventriculomegaly, Hypospadias, Ventricular septal defect, Recurrent pneumonia, Cleft palate, Furr...	OMIM:616449
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis	ORPHA:66661
Citrullinemia Type Ii	Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hepatic stea...	ORPHA:247585
Myopathy, Centronuclear, X-Linked	Cryptorchidism, Hydrocephalus, Pyloric stenosis, High palate, Dandy-Walker malformation	OMIM:310400
Familial Partial Lipodystrophy, Dunnigan Type	Hepatomegaly, Glomerulopathy, Hypertriglyceridemia, Diabetes mellitus, Dysmenorrhea, Splenomegaly...	ORPHA:2348
Jacobsen Syndrome	Recurrent respiratory infections, Ventricular septal defect, Hypospadias, Cryptorchidism, Pyloric...	OMIM:147791
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Recurrent respiratory infections, Villous atrophy, Psoriasiform dermatitis, Hemolytic anemia, Dec...	OMIM:606367
Moebius Syndrome	Hypogonadotropic hypogonadism, Bifid uvula, High palate, Dysphagia, Microphthalmia, Micropenis, D...	OMIM:157900
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Lateral ventricle dilatation	OMIM:615716
Focal Facial Dermal Dysplasia Type Iv	Hydrocephalus	ORPHA:398189
Severe X-Linked Intellectual Disability, Gustavson Type	Dilated fourth ventricle, Lateral ventricle dilatation, Small for gestational age, Dandy-Walker m...	ORPHA:3078
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Precocious puberty, Hypercholesterolemia, High palate, Maturity-onset diabetes of the young	ORPHA:254531
Anaplastic Thyroid Carcinoma	Tracheoesophageal fistula, Lymphadenopathy, Neoplasm of the lung, Anaplastic thyroid carcinoma, D...	ORPHA:142
Houge-Janssens Syndrome 1	Hydrocephalus, Ventriculomegaly	OMIM:616355
Baraitser-Winter Syndrome 1	Bicuspid aortic valve, Cryptorchidism, Micropenis, Microphthalmia, Aortic valve stenosis, Ventric...	OMIM:243310
47,Xyy Syndrome	Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Hydrocep...	ORPHA:8
Smith-Magenis Syndrome	Hypertriglyceridemia, Renal hypoplasia/aplasia, Precocious puberty, Abnormality of the ureter, Cl...	ORPHA:819
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Hydrocephalus	OMIM:615181
Acrocephalopolydactylous Dysplasia	Hypoplastic colon, Hepatomegaly, Pancreatic fibrosis, Hypoplasia of the small intestine, Hepatic ...	OMIM:200995
Metatropic Dysplasia	Hydrocephalus	ORPHA:2635
Cerebrooculofacioskeletal Syndrome 1	Microphthalmia, Cryptorchidism, Recurrent pneumonia, Ventriculomegaly	OMIM:214150
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Hydrocephalus, Failure to thrive, Ventriculomegaly	ORPHA:60040
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Ventricular septal defect, Intestinal malrotation, Cryptorchidism, Cleft palate, Abnormal heart m...	ORPHA:404440
Congenital Sialidosis Type 2	Hypoplasia of the fovea, Hepatomegaly, Abnormality of the kidney, Protruding tongue, Respiratory ...	ORPHA:93400
Hemangioblastoma	Hydrocephalus	ORPHA:252054
Tularemia	Pneumonia, Abnormal nasopharyngeal adenoid morphology, Mediastinal lymphadenopathy, Cervical lymp...	ORPHA:3392
Glutamine Deficiency, Congenital	Subependymal cysts, Decreased CSF glutamine concentration, Lateral ventricle dilatation	OMIM:610015
Colorectal Cancer	Hereditary nonpolyposis colorectal carcinoma, Renal cell carcinoma, Uterine leiomyosarcoma, Neopl...	OMIM:114500
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts	Communicating hydrocephalus	OMIM:600559
Vitamin K Antagonist Embryofetopathy	Hydrocephalus, Myelomeningocele	ORPHA:1914
1Q44 Microdeletion Syndrome	Optic disc hypoplasia, Intestinal malrotation, Hydrocephalus, Horseshoe kidney, Abnormal cardiac ...	ORPHA:238769
Roifman Syndrome	Noncompaction cardiomyopathy, Hepatomegaly, Ventricular septal defect, Eosinophilia, Splenomegaly...	OMIM:616651
Familial Cold Autoinflammatory Syndrome 2	Splenomegaly, Leukocytosis, Elevated circulating C-reactive protein concentration, Lymphadenopathy	OMIM:611762
Kapur-Toriello Syndrome	Ventricular septal defect, Intestinal malrotation, Cryptorchidism, Cleft palate, Hypoplastic labi...	OMIM:244300
Pyloric Atresia	Congenital pyloric atresia	OMIM:265950
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Microcytic anemia, Dilated cardiomyopathy, Hypoalbuminemia, Microphthalmia, Hepatic...	OMIM:618805
X-Linked Intellectual Disability, Wilson Type	Hydrocele testis, Lateral ventricle dilatation	ORPHA:85290
Trisomy X	Multicystic kidney dysplasia, Secondary amenorrhea, Renal hypoplasia/aplasia	ORPHA:3375
Exstrophy-Epispadias Complex	Bifid scrotum, Urinary incontinence, Epispadias, Bladder duplication, Absent penis, Vesicouretera...	ORPHA:322
Desmosterolosis	Renal agenesis, Intestinal malrotation, Renal hypoplasia/aplasia, Splenomegaly, Hydrocephalus, Su...	ORPHA:35107
Bile Acid Synthesis Defect, Congenital, 1	Hepatomegaly, Giant cell hepatitis, Conjugated hyperbilirubinemia, Splenomegaly, Intrahepatic cho...	OMIM:607765
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Absence of lymph node g...	OMIM:619924
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Recurrent respiratory infections, Hepatomegaly, Pancytopenia, Abnormal lymphocyte count, Portal h...	ORPHA:79124
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Hepatomegaly, Anisocytosis, Conjugated hyperbilirubinemia, Increased circulating ferritin concent...	OMIM:616860
Thanatophoric Dysplasia	Hydrocephalus, Ventriculomegaly	ORPHA:2655
Aggressive Systemic Mastocytosis	Gastrointestinal hemorrhage, Pancytopenia, Portal hypertension, Malabsorption, Hypersplenism, Thr...	ORPHA:98850
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Nephrocalcinosis, Inflammation of the large intestine, Hepatic steatosis, Hypothyroidism, Tubuloi...	ORPHA:79259
Adult-Onset Still Disease	Hepatomegaly, Pericarditis, Generalized lymphadenopathy, Neutrophilia, Elevated circulating C-rea...	ORPHA:829
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Hydrocephalus, Obesity	ORPHA:2180
Fanconi Anemia, Complementation Group E	Duplicated collecting system, Pancytopenia, Hypergonadotropic hypogonadism, Renal agenesis, Ectop...	OMIM:600901
Degcags Syndrome	Oral-pharyngeal dysphagia, Bilateral renal hypoplasia, Leukopenia, Iron deficiency anemia, High p...	OMIM:619488
Lymphoproliferative Syndrome 3	Hepatosplenomegaly, Reduced natural killer cell count, Lymphadenopathy	OMIM:618261
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Cryptorchidism, Lateral ventricle dilatation, Small for gestational age, Gliosis	OMIM:619847
Microcephalic Primordial Dwarfism, Montreal Type	Cryptorchidism, Congenital pyloric atresia	ORPHA:2617
Cataract 11, Multiple Types	Microphthalmia	OMIM:610623
Senior-Boichis Syndrome	Thickening of the tubular basement membrane, Hepatic fibrosis, Portal hypertension, Malformation ...	ORPHA:84081
Chromosome 1Q41-Q42 Deletion Syndrome	Ventricular septal defect, Supernumerary nipple, Cryptorchidism, Cleft palate, High palate, Pulmo...	OMIM:612530
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Microphthalmia	OMIM:616171
Leishmaniasis	Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Thrombocytopenia, Lymph...	ORPHA:507
Weiss-Kruszka Syndrome	Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly	OMIM:618619
Beta-Thalassemia Intermedia	Extramedullary hematopoiesis, Abnormality of the liver, Elevated hepatic iron concentration, Eryt...	ORPHA:231222
Cholestasis, Progressive Familial Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbilirubinemia, Spl...	OMIM:211600
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Abnormal lymph node morph...	OMIM:612840
Mucopolysaccharidosis, Type Ii	Hepatomegaly, Intestinal pseudo-obstruction, Abnormal heart valve morphology, Heparan sulfate exc...	OMIM:309900
Hanac Syndrome	Hematuria, Renal insufficiency, Multiple renal cysts	ORPHA:73229
Warburg Micro Syndrome 3	Small scrotum, Hypoplastic labia minora, Narrow palate, Microphthalmia, Micropenis, Decreased tes...	OMIM:614222
Classic Mycosis Fungoides	Hepatomegaly, Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy	ORPHA:2584
Lymphoproliferative Syndrome 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Recurrent pneumonia, Lymphadenopathy, ...	OMIM:615122
Cornelia De Lange Syndrome 1	Ectopic kidney, High, narrow palate, Renal cyst, High palate, Gastroesophageal reflux, Vesicouret...	OMIM:122470
Papillorenal Syndrome	Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d...	OMIM:120330
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Absence of lymph node germinal center, Recurrent upper respiratory tract infections, Recurrent pn...	ORPHA:277
Systemic-Onset Juvenile Idiopathic Arthritis	Hepatomegaly, Pericarditis, Elevated circulating C-reactive protein concentration, Splenomegaly, ...	ORPHA:85414
Uremic Pruritus	Renal hypophosphatemia, Hypercalcemia, Chronic kidney disease, Hypermagnesemia, Stage 5 chronic k...	ORPHA:94059
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia, Neutropenia, Bronchiectasis, Lymphaden...	OMIM:150550
Lissencephaly 8	Microphthalmia, Occipital encephalocele, Elevated circulating creatine kinase concentration, Vent...	OMIM:617255
Generalized Eruptive Histiocytosis	Histiocytosis, Leukemia, Hypereosinophilia, Lymphadenopathy	ORPHA:157991
Mosaic Trisomy 1	Hepatic agenesis, Ventricular septal defect, Renal cortical cysts, Renal cyst, Cleft palate, Late...	ORPHA:1692
D-2-Hydroxyglutaric Aciduria 1	Subependymal cysts, Lateral ventricle dilatation	OMIM:600721
Paganini-Miozzo Syndrome	Lateral ventricle dilatation	OMIM:301025
Bile Acid Synthesis Defect, Congenital, 5	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi...	OMIM:616278
Griscelli Syndrome Type 2	Hepatomegaly, Pancytopenia, Splenomegaly, Hyperlipidemia, Jaundice, Lymphadenopathy, Hemophagocyt...	ORPHA:79477
Omenn Syndrome	Hepatomegaly, Pneumonia, Eosinophilia, Splenomegaly, Leukocytosis, Thyroiditis, Lymphadenopathy, ...	ORPHA:39041
Beta-Thalassemia	Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Splenomegaly...	ORPHA:848
Nephrotic Syndrome, Type 1	Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Pyl...	OMIM:256300
Schnitzler Syndrome	Hepatomegaly, Splenomegaly, Leukocytosis, Lymphadenopathy, Anemia	ORPHA:37748
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Methylmalonic acidemia, Elevated urinary 3-hydroxybutyric acid, Methylmalonic aciduria, Elevated ...	OMIM:614105
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Ambiguous genitalia, Microphthalmia, Ventricular septal defect	ORPHA:93267
Intellectual Developmental Disorder, Autosomal Dominant 70	Hydrocephalus, Failure to thrive	OMIM:620157
Familial Melanoma	Neoplasm of the pancreas, Abnormality of the lymphatic system, Neoplasm of the stomach	ORPHA:618
Joubert Syndrome 3	Enlarged fossa interpeduncularis, Lateral ventricle dilatation	OMIM:608629
Neonatal Lupus Erythematosus	Hemolytic anemia, Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Thrombocytopenia, Di...	ORPHA:398124
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Lateral ventricle dilatation, Spina bifida occulta, Extra-axial cerebrospinal fluid accumulation,...	OMIM:618291
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Lymphadenopathy	OMIM:617772
Fanconi Anemia, Complementation Group C	Duplicated collecting system, Pancytopenia, Hypergonadotropic hypogonadism, Ventricular septal de...	OMIM:227645
Coccidioidomycosis	Abnormality of the spleen, Abnormality of the liver, Abnormality of the male genitalia, Abnormali...	ORPHA:228123
Brucellosis	Liver abscess, Elevated circulating C-reactive protein concentration, Bronchitis, Leukopenia, Abn...	ORPHA:1304
Proteus-Like Syndrome	Communicating hydrocephalus, Thymus hyperplasia, Splenomegaly, Abnormality of the parathyroid gla...	ORPHA:2969
3-Methylglutaconic Aciduria Type 7	Renal insufficiency, Hypothyroidism, Pneumothorax, Renal cyst, Nephrocalcinosis, Cardiomyopathy, ...	ORPHA:445038
Adams-Oliver Syndrome	Gastrointestinal hemorrhage, Encephalocele, Abnormal pulmonary valve morphology, Portal hypertens...	ORPHA:974
Laron Syndrome	Abnormality of the endocrine system, Hypercholesterolemia, Hypoplasia of penis, Delayed puberty	ORPHA:633
Rhombencephalosynapsis	Ventriculomegaly, Septo-optic dysplasia, Aganglionic megacolon, Esophageal atresia, Hydrocephalus...	ORPHA:59315
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Lens coloboma, Renal hypoplasia, Lateral ventricle dilatation, Pulmonic stenosis, Webbed neck, Mi...	OMIM:618914
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Supernumerary nipple, Unilateral renal agenesis, Secundum atrial septal defect, Cryptorchidism, H...	OMIM:619951
Nanophthalmos 4	Microphthalmia	OMIM:615972
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Microphthalmia, Cryptorchidism, Hypogonadism, External genital hypoplasia	ORPHA:363741
Ciliary Dyskinesia, Primary, 1	Communicating hydrocephalus, Nasal polyposis, Absent outer dynein arms, Immotile cilia, Ciliary d...	OMIM:244400
Campomelia, Cumming Type	Hepatomegaly, Multicystic kidney dysplasia, Pancreatic cysts, Abnormality of the pancreas, Cleft ...	ORPHA:1318
Mckusick-Kaufman Syndrome	Urethral stricture, Multicystic kidney dysplasia, Ventricular septal defect, Aganglionic megacolo...	ORPHA:2473
Hyperparathyroidism-Jaw Tumor Syndrome	Pancreatic adenocarcinoma, Renal insufficiency, Hypercalcemia, Testicular neoplasm, Renal hamarto...	ORPHA:99880
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Hydrocephalus, Anemia	ORPHA:163596
Cholestasis, Progressive Familial Intrahepatic, 3	Hepatomegaly, Malabsorption, Splenomegaly, Intrahepatic cholestasis, Jaundice, Portal inflammatio...	OMIM:602347
Bone Marrow Failure Syndrome 5	Pure red cell aplasia, Erythroid hypoplasia, Hypogonadism, Testicular atrophy, Anemia	OMIM:618165
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Hydrocephalus	ORPHA:93262
Alkuraya-Kucinskas Syndrome	Ventriculomegaly, Small scrotum, Pericardial effusion, Hydrocephalus, Pleural effusion, High pala...	OMIM:617822
Familial Mediterranean Fever	Hepatomegaly, Pericarditis, Neutrophilia, Elevated circulating C-reactive protein concentration, ...	OMIM:249100
Pediatric Systemic Lupus Erythematosus	Dark urine, Abnormality of the gastrointestinal tract, Renal insufficiency, Proteinuria, Pericard...	ORPHA:93552
Joubert Syndrome 14	Encephalocele, Ventricular septal defect, Hydrocephalus, Meningocele, Cleft palate, Renal cyst, M...	OMIM:614424
Penile Agenesis	Maternal diabetes, Fetal pyelectasis, Bilateral renal hypoplasia, Anorectal anomaly, Absent penis...	ORPHA:49
Giant Axonal Neuropathy 1, Autosomal Recessive	Lateral ventricle dilatation	OMIM:256850
Linear Skin Defects With Multiple Congenital Anomalies 1	Overriding aorta, Ventricular septal defect, Hypospadias, Ovotestis, Hydrocephalus, Cleft palate,...	OMIM:309801
Charge Syndrome	Anophthalmia, Decreased response to growth hormone stimulation test, External genital hypoplasia,...	OMIM:214800
Axenfeld-Rieger Syndrome, Type 2	Anal stenosis, Hypospadias, Cryptorchidism, Hydrocephalus, Abnormal heart morphology	OMIM:601499
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Recurrent sinopulmonary infections, Decreased proportion of CD4+CD25+ regulatory T cells, Autoimm...	OMIM:619846
Acquired Hypertrichosis Lanuginosa	Macroglossia, Glossitis, Lymphadenopathy, Ovarian neoplasm	ORPHA:2221
Trisomy 18	Ventricular septal defect, Spina bifida, Abnormality of the upper urinary tract, Cryptorchidism, ...	ORPHA:3380
Biliary, Renal, Neurologic, And Skeletal Syndrome	Anterior pituitary hypoplasia, Secundum atrial septal defect, Conjugated hyperbilirubinemia, Aque...	OMIM:619534
Fanconi Anemia, Complementation Group G	Anemia, Neutropenia, Microphthalmia, Leukemia, Thrombocytopenia	OMIM:614082
Aase-Smith Syndrome I	Hydrocephalus, Dandy-Walker malformation	OMIM:147800
Cholestasis, Progressive Familial Intrahepatic, 2	Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Intrahepatic cholestasis, Intermittent...	OMIM:601847
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Microphthalmia, High palate, Hypogonadotropic hypogonadism, Cleft palate	ORPHA:1135
Oeis Complex	Epispadias, Ambiguous genitalia, female, Anteriorly placed anus, Ambiguous genitalia, male, Dupli...	OMIM:258040
Distal Myopathy, Tateyama Type	Hypercholesterolemia, Abnormal circulating creatine kinase concentration	ORPHA:488650
Meacham Syndrome	Hypoplasia of penis, Abnormality of the spleen, Abnormal lung lobation, Conotruncal defect, Abnor...	ORPHA:3097
Cystic Hamartoma Of Lung And Kidney	Recurrent respiratory infections, Multicystic kidney dysplasia, Pulmonary fibrosis	ORPHA:2111
Combined Oxidative Phosphorylation Deficiency 11	Hepatomegaly, Renal insufficiency, Renal hypoplasia, Renal cyst, Increased CSF lactate, Renal tub...	OMIM:614922
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Encephalocele, Dandy-Walker malformation, Hamartoma of tongue, Cryptorchidism, Renal hypoplasia, ...	OMIM:616300
Verheij Syndrome	Ventricular septal defect, Optic nerve hypoplasia, Renal agenesis, Renal hypoplasia, Cleft palate...	OMIM:615583
Alveolar Echinococcosis	Pulmonary cyst, Liver abscess, Abnormal pericardium morphology, Cholangitis, Portal hypertension,...	ORPHA:284
Congenital Tracheal Stenosis	Ventricular septal defect, Abnormality of the kidney, Fetal ascites, Abnormal stomach morphology,...	ORPHA:141127
Parathyroid Carcinoma	Pancreatic adenocarcinoma, Renal insufficiency, Hypercalcemia, Testicular neoplasm, Renal hamarto...	ORPHA:143
Marden-Walker Syndrome	Epispadias, Bifid uvula, Abnormal penis morphology, Multicystic kidney dysplasia, Hypospadias, Ab...	ORPHA:2461
Amelocerebrohypohidrotic Syndrome	Hydrocephalus	ORPHA:1946
Cutis Laxa, Autosomal Recessive, Type Iib	Hydrocephalus, Failure to thrive, Agenesis of corpus callosum	OMIM:612940
Joubert Syndrome 16	Encephalocele, Dandy-Walker malformation, Renal cyst, Nephronophthisis	OMIM:614465
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Small scrotum, Proteinuria, Cryptorchidism, Cleft palate, Multiple bladder diverticula, Atrial se...	ORPHA:2728
Methylcobalamin Deficiency Type Cble	Hydrocephalus, Failure to thrive, Ventriculomegaly	ORPHA:2169
Halperin-Birk Syndrome	Colpocephaly, Failure to thrive, Agenesis of corpus callosum, Ventriculomegaly, Semilobar holopro...	OMIM:618651
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Astrocytosis, Decreased body weight	ORPHA:258
Gaisböck Syndrome	Hypertriglyceridemia, Diabetes mellitus, Peptic ulcer, Splenomegaly, Increased mean corpuscular h...	ORPHA:90041
Sarcoidosis	Abnormal cerebrospinal fluid morphology, Abnormal lung morphology, Increased T cell count, Nephro...	ORPHA:797
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Multiple pulmonary cysts, Hepatomegaly, Hypertriglyceridemia, Ventricular septa...	OMIM:619418
Deafness-Lymphedema-Leukemia Syndrome	Recurrent respiratory infections, Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocyt...	ORPHA:3226
Vacterl Association With Hydrocephalus	Aqueductal stenosis, Hydrocephalus	OMIM:276950
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Hydrocephalus, Agenesis of corpus callosum	OMIM:615249
Cyclic Neutropenia	Cyclic neutropenia, Perianal abscess, Respiratory tract infection, Cervical lymphadenopathy, Recu...	ORPHA:2686
Ulbright-Hodes Syndrome	Abnormal penis morphology, Abnormal external genitalia, Enlarged labia minora, Maternal diabetes,...	ORPHA:3404
Micro Syndrome	Hypoplasia of penis, Cryptorchidism, Hypoplastic labia minora, Abnormal localization of kidney, C...	ORPHA:2510
Joubert Syndrome With Hepatic Defect	Hepatomegaly, Multicystic kidney dysplasia, Renal insufficiency, Occipital encephalocele, Portal ...	ORPHA:1454
Martsolf Syndrome 1	Recurrent respiratory infections, Enlarged sylvian cistern, Hypogonadotropic hypogonadism, Crypto...	OMIM:212720
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Dilated fourth ventricle, Microphthalmia	OMIM:615771
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Hepatomegaly, Decreased proportion of naive T cells, Pneumonia, Jaundice, Lymph node hypoplasia, ...	ORPHA:276
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Recurrent respiratory infections, Abnormally low T cell receptor excision circle level, Generaliz...	OMIM:618986
Joubert Syndrome 2	Encephalocele, Enlarged fossa interpeduncularis, Renal insufficiency, Hydrocephalus, Renal cyst, ...	OMIM:608091
Analbuminemia	Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Hypoalbu...	OMIM:616000
Medullary Thyroid Carcinoma	Primary hyperparathyroidism, Elevated circulating calcitonin concentration, Lymphadenopathy, Neop...	ORPHA:1332
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Failure to thrive, Increased CSF protein concentration, Gliosis, Astrocytosis	OMIM:203700
Kapur-Toriello Syndrome	Hypoplasia of penis, Ventricular septal defect, Intestinal malrotation, Hypoplastic labia majora,...	ORPHA:2328
Sarcoidosis, Susceptibility To, 2	Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly, Pneumothorax, Bronchiectasis, Abnormal p...	OMIM:612387
Malan Overgrowth Syndrome	Lateral ventricle dilatation, Ventriculomegaly	ORPHA:420179
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Renal hypoplasia, Renal cyst, Ureteral agenesis, Pulmonary hypoplasia, Hydranencephaly, Renal dys...	OMIM:236500
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Secundum atrial septal defect, Leukopenia, Hypoplasia of the thymus, High palate, Neutropenia, He...	OMIM:612541
Bilateral Generalized Polymicrogyria	Lateral ventricle dilatation	ORPHA:208447
Niemann-Pick Disease, Type A	Recurrent respiratory infections, Hepatomegaly, Bone-marrow foam cells, Microcytic anemia, Spleno...	OMIM:257200
Oculocerebrorenal Syndrome Of Lowe	Hyperparathyroidism, Hypoammonemia, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Gastroes...	ORPHA:534
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia	Congenital pyloric atresia	OMIM:612138
Histiocytosis-Lymphadenopathy Plus Syndrome	Hepatomegaly, Ventricular septal defect, Decreased response to growth hormone stimulation test, H...	OMIM:602782
Glycogen Storage Disease Ib	Hepatomegaly, Pancreatic fibrosis, Proteinuria, Splenomegaly, Hyperlipidemia, Delayed puberty, Ne...	OMIM:232220
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Recurrent respiratory infections, Proteinuria, Heparan sulfate excretion in urine, Anemia, Thromb...	ORPHA:505248
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Hematuria, Microphthalmia, Bilateral cleft lip and palate	ORPHA:1473
Microcephaly 20, Primary, Autosomal Recessive	Optic nerve hypoplasia, Renal hypoplasia, Hypoplasia of the uterus, Ureteral agenesis, Bilateral ...	OMIM:617914
Macrophage Activation Syndrome	Hepatomegaly, Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Increa...	ORPHA:158061
Arachnoiditis	Hydrocephalus	ORPHA:137817
Storage Pool Platelet Disease	Decreased mean platelet volume, Acute leukemia	OMIM:185050
Warburg Micro Syndrome 4	Small scrotum, Cryptorchidism, Microphthalmia, Micropenis, Decreased testicular size	OMIM:615663
Aminopterin/Methotrexate Embryofetopathy	Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Spinal dysraphism, Holoprosencephaly	ORPHA:1908
Thrombocytopenia 3	Thrombocytopenia, Decreased mean platelet volume	OMIM:273900
Autoimmune Hepatitis	Gastrointestinal hemorrhage, Viral hepatitis, Diffuse hepatic steatosis, Glomerulonephritis, Sple...	ORPHA:2137
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis	Renal angiomyolipoma, Polycystic kidney dysplasia	OMIM:600273
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Developmental And Epileptic Encephalopathy 49	Dysplastic corpus callosum, Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation	OMIM:617281
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypoparathyroidism, Hypertriglyceridemia, Hypercalcemia, Precocious puberty, High, narrow palate,...	ORPHA:369837
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Cryptorchidism, Hydrocephalus, Failure to thrive, Dandy-Walker malformation	OMIM:612938
Lesch-Nyhan Syndrome	Megaloblastic anemia, Nephrolithiasis, Hyperuricosuria, Nephrocalcinosis, Hyperuricemia, Dysphagi...	OMIM:300322
Subaortic Stenosis-Short Stature Syndrome	Biliary tract abnormality, Membranous subvalvular aortic stenosis, Type II diabetes mellitus, Sub...	ORPHA:3191
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Hydrocephalus, Ventriculomegaly	OMIM:603387
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Hypoplasia of penis, Supernumerary nipple, Cryptorchidism, Hydrocephalus, Cleft palate, Thin skin...	ORPHA:1812
Kaposi Sarcoma	Abnormality of the gastrointestinal tract, Generalized lymphadenopathy, Abnormality of the spleen...	ORPHA:33276
Fraser Syndrome 1	Encephalocele, Abnormal small intestine morphology, Anophthalmia, Hypospadias, Renal hypoplasia/a...	OMIM:219000
Ménétrier Disease	Gastrointestinal hemorrhage, Helicobacter pylori infection, Abnormal gastric mucosa morphology, M...	ORPHA:2494
Facial Clefting, Oblique, 1	Microphthalmia, Cleft palate	OMIM:600251
Rosaï-Dorfman Disease	Anemia, Lymphadenopathy	ORPHA:158014
Trisomy 8P	Dandy-Walker malformation, Abnormal atrioventricular connection, Cryptorchidism, Hydrocephalus, M...	ORPHA:264450
Familial Adenomatous Polyposis 4	Duodenal polyposis, Gastric adenocarcinoma, Adenomatous colonic polyposis, Renal cyst, Ovarian cy...	OMIM:617100
Baraitser-Winter Syndrome 2	Microphthalmia, Ventriculomegaly, Webbed neck	OMIM:614583
Congenital Anomalies Of Kidney And Urinary Tract 3	Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr...	OMIM:618270
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Dysplastic corpus callosum, Lateral ventricle dilatation, Failure to thrive in infancy, Ventricul...	ORPHA:488627
Bardet-Biedl Syndrome 17	Dextrocardia, Polyuria, Situs inversus totalis, Stage 5 chronic kidney disease, Renal cyst, Hypog...	OMIM:615994
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Pericarditis, Intestinal obstruction, Elevated circulating C-reactive protein concentration, Orch...	ORPHA:32960
Bardet-Biedl Syndrome	Hypoplasia of penis, Multicystic kidney dysplasia, Cryptorchidism, Nephrotic syndrome, Hypoplasia...	ORPHA:110
Microphthalmia, Isolated, With Coloboma 10	Microphthalmia, Anophthalmia	OMIM:616428
Cryoglobulinemic Vasculitis	Gastrointestinal hemorrhage, Hepatomegaly, Renal insufficiency, Viral hepatitis, Proteinuria, Glo...	ORPHA:91138
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Occipital encephalocele, Ventriculomegaly, Elevated circulating creatine kinase concentration, Op...	OMIM:236670
Jacobsen Syndrome	Recurrent respiratory infections, Multicystic kidney dysplasia, Ventriculomegaly, Ventricular sep...	ORPHA:2308
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Lateral ventricle dilatation, Gliosis	OMIM:607485
Crouzon Syndrome	Hydrocephalus	ORPHA:207
Intellectual Developmental Disorder, Autosomal Dominant 65	Agenesis of corpus callosum, Noncommunicating hydrocephalus	OMIM:619320
Hartsfield Syndrome	Encephalocele, Microphthalmia, Cleft palate, Lobar holoprosencephaly	ORPHA:2117
Indolent Systemic Mastocytosis	Hepatomegaly, Splenomegaly, Lymphadenopathy, Increased proportion of CD25+ mast cells, Mastocytos...	ORPHA:98848
Cinca Syndrome	Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Lymphadenopath...	OMIM:607115
Joubert Syndrome 39	Occipital encephalocele, Hypoplastic left heart, Polycystic kidney dysplasia	OMIM:619562
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Hydrocephalus, Nasofrontal encephalocele, Ventriculomegaly	OMIM:614195
Immunodeficiency 7	Recurrent respiratory infections, Autoimmune hemolytic anemia, Hepatomegaly, Splenomegaly, Hypere...	OMIM:615387
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Cleft soft palate, Intestinal malrotation, Optic nerve hypoplasia, Leukocytosis, Hydrocephalus, R...	OMIM:619321
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome	Multicystic kidney dysplasia	ORPHA:3270
Osteootohepatoenteric Syndrome	Ileoileal intussusception, Villous atrophy, Proteinuria, Increased intestinal transit time, Micro...	OMIM:619377
Epidermal Nevus Syndrome	Polycystic kidney dysplasia	ORPHA:35125
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Jaundice, Hepatitis, Hematochezia, Acholic ...	OMIM:613812
Acquired Aneurysmal Subarachnoid Hemorrhage	Leukocytosis, Hyperglycorrhachia, Hydrocephalus, Increased CSF lactate, Left ventricular hypertro...	ORPHA:90065
Ring Chromosome 10 Syndrome	Microphthalmia, Aganglionic megacolon, Hypocalcemia, Renal hypoplasia/aplasia	ORPHA:1438
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malformation	ORPHA:459061
American Trypanosomiasis	Hepatomegaly, Aganglionic megacolon, Myocarditis, Splenomegaly, Lymphadenopathy, Cardiomyopathy, ...	ORPHA:3386
Mucopolysaccharidosis Type 1	Recurrent respiratory infections, Abnormal heart valve morphology, Abnormality of the tonsils, Ma...	ORPHA:579
Intellectual Developmental Disorder, Autosomal Dominant 48	Dilated fourth ventricle, Lateral ventricle dilatation	OMIM:617751
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Ventriculomegaly, Agenesis of corpus callosum, Hydrocephalus, Dandy-Walker malformation	OMIM:618476
Omenn Syndrome	Hepatomegaly, Severe B lymphocytopenia, Pneumonia, Eosinophilia, Splenomegaly, Thrombocytopenia, ...	OMIM:603554
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome	Cryptorchidism, Multicystic kidney dysplasia, Intestinal pseudo-obstruction, Fetal megacystis	ORPHA:73246
Multiple Myeloma	Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Functional abnormalit...	ORPHA:29073
Mody	Elevated hemoglobin A1c, Abnormality of the kidney, Transient neonatal diabetes mellitus, Insulin...	ORPHA:552
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Recurrent respiratory infections, Cervical lymphadenopathy, B lymphocytopenia, Abnormally low T c...	OMIM:618987
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Lateral ventricle dilatation, Dilated third ventricle, Obesity, Partial agenesis of the corpus ca...	OMIM:617296
Kikuchi-Fujimoto Disease	Abnormality of the gastrointestinal tract, Hepatomegaly, Generalized lymphadenopathy, Elevated ci...	ORPHA:50918
Foveal Hypoplasia 2	Hypoplasia of the fovea, Microphthalmia	OMIM:609218
D-Bifunctional Protein Deficiency	Hepatomegaly, Fetal ascites, Splenomegaly, Primary adrenal insufficiency, Renal cyst, Cholestasis...	OMIM:261515
Progressive Non-Fluent Aphasia	Astrocytosis	ORPHA:100070
Gamma-Heavy Chain Disease	Recurrent respiratory infections, Autoimmune hemolytic anemia, Hepatomegaly, Autoimmune thrombocy...	ORPHA:100026
Frontonasal Dysplasia 1	Anterior basal encephalocele, Cranium bifidum occultum, Microphthalmia, Tetralogy of Fallot, Medi...	OMIM:136760
Dyskeratosis Congenita, Autosomal Recessive 2	Pancytopenia, Bone marrow hypocellularity, Cirrhosis, Testicular atrophy, Oral leukoplakia, Throm...	OMIM:613987
Wolman Disease	Hepatomegaly, Adrenal calcification, Bone-marrow foam cells, Splenomegaly, Esophageal varix, Adre...	ORPHA:75233
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Absent peripheral lymph nodes in presence of infection, Increased T cell count, Inflammation of t...	ORPHA:98813
Immunodeficiency 60 And Autoimmunity	Recurrent sinopulmonary infections, Pancytopenia, Splenomegaly, Bronchiectasis, Ulcerative coliti...	OMIM:618394
Hurler Syndrome	Recurrent respiratory infections, Hepatomegaly, Heparan sulfate excretion in urine, Splenomegaly,...	OMIM:607014
Refsum Disease	Splenomegaly, Cardiomyopathy, Renal insufficiency, Microphthalmia	ORPHA:773
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypercholesterolemia, Hypoalbuminemia	ORPHA:94124
Autoimmune Lymphoproliferative Syndrome	Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, F...	OMIM:601859
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Encephalocele, Small scrotum, Cryptorchidism, Hypogonadism, Microphthalmia	ORPHA:228390
T-Cell Immunodeficiency With Thymic Aplasia	Recurrent urinary tract infections, Decreased proportion of naive T cells, Aplasia of the thymus,...	ORPHA:83471
Linear Skin Defects With Multiple Congenital Anomalies 2	Atrial septal defect, Ventricular hypertrophy, Tetralogy of Fallot, Microphthalmia	OMIM:300887
Portal Hypertension, Noncirrhotic, 1	Splenomegaly, Esophageal varix, Portal hypertension, Hepatomegaly	OMIM:617068
Cold Agglutinin Disease	Abnormal urinary color, Hemolytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:56425
Holoprosencephaly 14	Alobar holoprosencephaly, Aqueductal stenosis, Hydrocephalus, Partial agenesis of the corpus call...	OMIM:619895
Xeroderma Pigmentosum, Complementation Group G	Microphthalmia	OMIM:278780
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Multicystic kidney dysplasia, Congenital hepatic fibrosis, Meningocele, Renal cyst, Glossoptosis,...	ORPHA:2031
15q26 overgrowth syndrome	Renal agenesis, Abnormality of the kidney, Horseshoe kidney, Duplication of renal pelvis, High pa...	DECIPHER:81
Thrombocytopenia 1	Congenital thrombocytopenia, Decreased mean platelet volume, Intermittent thrombocytopenia	OMIM:313900
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Abnormality of the gastrointestinal tract, Multicystic kidney dysplasia, Hydroureter, Intestinal ...	ORPHA:2241
Citrullinemia, Type Ii, Neonatal-Onset	Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper...	OMIM:605814
Gorlin Syndrome	Cryptorchidism, Hydrocephalus	ORPHA:377
Plasminogen Deficiency, Type I	Ventriculomegaly, Duodenal ulcer, Hydrocephalus, Decreased level of plasminogen, Recurrent upper ...	OMIM:217090
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Mitral valve calcification, Pancytopenia, Ventriculomegaly, Aortic valve calcification, Abnormali...	ORPHA:2072
Pelvis-Shoulder Dysplasia	Hydranencephaly, Spina bifida, Hydrocephalus, Bilateral microphthalmos, Cleft palate, Ambiguous g...	ORPHA:2839
Congenital Disorder Of Glycosylation, Type Iif	Decreased platelet glycoprotein Ib, Macrothrombocytopenia, Thrombocytopenia, Neutropenia	OMIM:603585
Transketolase Deficiency	Increased level of ribose in urine, Hepatomegaly, Ventricular septal defect, Renal cyst, Abnormal...	ORPHA:488618
Hypercholesterolemia, Familial, 4	Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration	OMIM:603813
Familial Pancreatic Carcinoma	Pancreatic adenocarcinoma, Diabetes mellitus, Intestinal pseudo-obstruction, Functional intestina...	ORPHA:1333
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Absent gallbladder, Ventricular septal defect, Hypospadias, Cryptorchidism, Thrombocytopenia, Hyd...	ORPHA:163979
Koolen-De Vries Syndrome	Ureteral duplication, Bicuspid aortic valve, Hypospadias, Cryptorchidism, High, narrow palate, Py...	ORPHA:96169
Focal Dermal Hypoplasia	Multicystic kidney dysplasia, Ventricular septal defect, Spina bifida, Renal hypoplasia/aplasia, ...	ORPHA:2092
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypercholesterolemia, Hypoalbuminemia	OMIM:607250
1Q21.1 Microdeletion Syndrome	Cryptorchidism, Hydrocephalus, Abnormal cardiac septum morphology, High palate, Vesicoureteral re...	ORPHA:250989
Lysosomal Acid Lipase Deficiency	Adrenal calcification, Bone-marrow foam cells, Renal salt wasting, Microvesicular hepatic steatos...	ORPHA:275761
Fish-Eye Disease	Splenomegaly, Decreased HDL cholesterol concentration, Hepatomegaly, Lymphadenopathy	ORPHA:79292
Immunodeficiency With Hyper-Igm, Type 3	Neutropenia, Absence of lymph node germinal center	OMIM:606843
Autoimmune Lymphoproliferative Syndrome	Colitis, Thyroid carcinoma, Lymphocytosis, Increased B cell count, Elevated proportion of CD4-neg...	ORPHA:3261
Diaphanospondylodysostosis	Myelomeningocele, Multiple renal cysts, Cleft palate	ORPHA:66637
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome	Abnormal internal genitalia, Multicystic kidney dysplasia, Hydroureter, Anal atresia, Intestinal ...	ORPHA:2973
Hennekam Syndrome	Recurrent respiratory infections, Lymphopenia, Malabsorption, Pericardial effusion, Ectopic kidne...	ORPHA:2136
Primary Myelofibrosis	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Splenomegaly, Leuk...	ORPHA:824
Multiple Benign Circumferential Skin Creases On Limbs	Small scrotum, Hypospadias, Cryptorchidism, Cleft palate, Abnormality of the scrotum, Microphthalmia	ORPHA:2505
Chromosome 6Q24-Q25 Deletion Syndrome	Hydrocephalus, Agenesis of corpus callosum, Lateral ventricle dilatation	OMIM:612863
Microphthalmia, Syndromic 5	Ectopic posterior pituitary, Anophthalmia, Optic nerve hypoplasia, Cryptorchidism, Cleft palate, ...	OMIM:610125
Congenital Megacalycosis	Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne...	ORPHA:93109
Thyroid Lymphoma	Hyperthyroidism, Lymphadenopathy, Dysphagia, Hypothyroidism, Hashimoto thyroiditis, Goiter	ORPHA:97285
Monosomy 18P	Cleft palate, Holoprosencephaly, Webbed neck, Microphthalmia, Hypothyroidism	ORPHA:1598
Histiocytoid Cardiomyopathy	Hepatomegaly, Ventricular septal defect, Cardiomegaly, Hydrocephalus, Cleft palate, Polycystic ov...	ORPHA:137675
Renal Dysplasia	Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure...	ORPHA:93108
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Overweight, Dilated third ventricle, Hydrocephalus, Cryptorchidism, Failure to thrive, Ventriculo...	ORPHA:500055
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, High, narrow palat...	ORPHA:95699
Pyruvate Kinase Deficiency Of Red Cells	Reticulocytosis, Hepatomegaly, Decreased hemoglobin concentration, Reduced red cell pyruvate kina...	OMIM:266200
Intellectual Developmental Disorder, Autosomal Dominant 56	Lateral ventricle dilatation	OMIM:617854
Wilson Disease	Decreased circulating ceruloplasmin concentration, Aminoaciduria, Hypoalbuminemia, Hepatic steato...	OMIM:277900
Isolated Thyroid-Stimulating Hormone Deficiency	Thyroid hypoplasia, Decreased thyroid-stimulating hormone level, Reduced radioactive iodine uptak...	ORPHA:90674
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Hypertriglyceridemia, Hypospadias, External genital hypoplasia, Ovotestis, Ambiguous genitalia, H...	OMIM:610644
Joubert Syndrome 22	Microphthalmia, Renal hypoplasia	OMIM:615665
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Hydrocephalus	OMIM:300863
Endocrine-Cerebroosteodysplasia	Ventriculomegaly, Small scrotum, Hypospadias, Adrenal hypoplasia, Cryptorchidism, Hydrocephalus, ...	OMIM:612651
Oculocerebrocutaneous Syndrome	Cryptorchidism, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	ORPHA:1647
Pulmonary Non-Tuberculous Mycobacterial Infection	Pericardial effusion, Pneumothorax, Bronchiectasis, Lymphadenopathy, Pleural effusion	ORPHA:411703
Dyrk1A-Related Intellectual Disability Syndrome	Ventricular septal defect, Anterior pituitary hypoplasia, Hypospadias, Unilateral renal agenesis,...	ORPHA:464306
Basel-Vanagaite-Smirin-Yosef Syndrome	Ventricular septal defect, Hypospadias, High, narrow palate, Recurrent pneumonia, Cleft palate, F...	ORPHA:464738
Polyposis of gastric fundus without polyposis coli	Abnormal gastric mucosa morphology, Multiple gastric polyps	OMIM:175505
Microphthalmia, Lenz Type	Hydroureter, Hypospadias, Renal hypoplasia/aplasia, Cryptorchidism, Webbed neck, Microphthalmia, ...	ORPHA:568
Mandibuloacral Dysplasia	Hypertriglyceridemia, Increased circulating free fatty acid level, Abnormally large globe, Abnorm...	ORPHA:2457
Duane-Radial Ray Syndrome	Renal malrotation, Anal stenosis, Ventricular septal defect, Aganglionic megacolon, Optic disc hy...	OMIM:607323
Smith-Lemli-Opitz Syndrome	Hypoplasia of penis, Abnormal lung lobation, Gastroesophageal reflux, Holoprosencephaly, Atrial s...	ORPHA:818
Braddock-Carey Syndrome 1	Multicystic kidney dysplasia, Aortic valve prolapse, Ventricular septal defect, Cleft palate, Ant...	OMIM:619980
Cerebrooculofacioskeletal Syndrome 2	Microphthalmia, Micropenis, Small scrotum	OMIM:610756
Sézary Syndrome	Hepatomegaly, Abnormal pleura morphology, Splenomegaly, Lymphadenopathy, Abnormal lymphocyte morp...	ORPHA:3162
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Polycythemia, Anemia of inadequate producti...	ORPHA:3202
Papa Syndrome	Type I diabetes mellitus, Proteinuria, Crohn's disease, Lymphadenopathy	ORPHA:69126
Q Fever	Hepatomegaly, Pericarditis, Abnormal heart valve morphology, Pneumonia, Pericardial effusion, Myo...	ORPHA:781
Osteopetrosis, Autosomal Recessive 8	Hepatomegaly, Splenomegaly, Unilateral microphthalmos, Anemia, Thrombocytopenia	OMIM:615085
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Recurrent respiratory infections, Renal insufficiency, Polycystic liver disease, Pancreatic fibro...	OMIM:208500
Desmosterolosis	Failure to thrive, Hydrocephalus, Partial agenesis of the corpus callosum, Ventriculomegaly	OMIM:602398
Myotonic Dystrophy 1	Hypogonadism, Cholelithiasis, Testicular atrophy, Dysphagia	OMIM:160900
Cach Syndrome	Lateral ventricle dilatation	ORPHA:135
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Ventricular septal defect, Cryptorchidism, Bilateral microphthalmos, Abnormal heart morphology, M...	ORPHA:369891
Bile Acid Synthesis Defect, Congenital, 2	Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Jaundice, Hyperbilirubinemia, Steatorrhea	OMIM:235555
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Cryptorchidism, Lateral ventricle dilatation, Dilated third ventricle, Agenesis of corpus callosum	OMIM:619244
Albers-Schönberg Osteopetrosis	Hydrocephalus	ORPHA:53
Malakoplakia	Proteinuria, Dysuria, Follicular hyperplasia, Orchitis, Urinary bladder inflammation, Abnormality...	ORPHA:556
Joubert Syndrome 7	Encephalocele, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis	OMIM:611560
Fryns Microphthalmia Syndrome	Microphthalmia, Neural tube defect, Anophthalmia, Bilateral cleft lip and palate	OMIM:600776
Ventriculomegaly With Cystic Kidney Disease	Hydrocephalus, Ventriculomegaly	OMIM:219730
Bardet-Biedl Syndrome 6	Diabetes mellitus, Hypospadias, External genital hypoplasia, Renal cyst, Vaginal atresia	OMIM:605231
Classic Hodgkin Lymphoma	Hepatomegaly, Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy	ORPHA:391
Joubert Syndrome With Renal Defect	Encephalocele, Hydrocephalus, Agenesis of corpus callosum	ORPHA:220497
8P11.2 Deletion Syndrome	Hemolytic anemia, Hypoplasia of penis, Hypogonadotropic hypogonadism, Cryptorchidism, Splenomegal...	ORPHA:251066
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Ureteral duplication, Cholangitis, Renal cyst, High palate, Hepatic fibrosis, Nephronophthisis, B...	OMIM:266920
Proximal 16P11.2 Microdeletion Syndrome	Multicystic kidney dysplasia, Dextrocardia, Pyloric stenosis, Cleft palate, Abnormal heart morpho...	ORPHA:261197
Genitopatellar Syndrome	Multicystic kidney dysplasia, Small scrotum, Cryptorchidism, Gastroesophageal reflux, Pulmonary h...	ORPHA:85201
Pontocerebellar Hypoplasia, Type 7	Cryptorchidism, Hydrocephalus, High palate, Ambiguous genitalia, Micropenis, Ventriculomegaly	OMIM:614969
Microphthalmia, Isolated 6	Microphthalmia	OMIM:613517
Fanconi Anemia, Complementation Group S	Narrow palate, Ovarian neoplasm, Ovarian carcinoma, Microphthalmia, Anemia	OMIM:617883
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Increased urine alpha-ketoglutarate concentration, Ventriculomegaly, Ventricular septal defect, R...	OMIM:220500
Isotretinoin Embryopathy-Like Syndrome	Hydrocephalus	OMIM:243440
Pettigrew Syndrome	Aqueductal stenosis, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	OMIM:304340
1P36 Deletion Syndrome	Hypoplasia of penis, Abnormality of the spleen, Renal cyst, Abnormality of the liver, Gastroesoph...	ORPHA:1606
Chromosome 6Pter-P24 Deletion Syndrome	Hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malformation	OMIM:612582
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Ventricular septal defect, Abnormality of the endocrine system, Cryptorchidism, Renal cyst, Horse...	ORPHA:166035
Microphthalmia, Isolated, With Coloboma 7	Microphthalmia	OMIM:614497
Cinca Syndrome	Hepatomegaly, Abnormality of neutrophils, Elevated circulating C-reactive protein concentration, ...	ORPHA:1451
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Recurren...	ORPHA:169154
Mucopolysaccharidosis, Type Vii	Hepatomegaly, Abnormal heart valve morphology, Heparan sulfate excretion in urine, Splenomegaly, ...	OMIM:253220
Attenuated Familial Adenomatous Polyposis	Duodenal polyposis, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic polyposis, Ute...	ORPHA:220460
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Ventricular septal defect, Hypospadias, Cryptorchidism, Renal cyst, Furrowed tongue, High palate,...	OMIM:616975
Osteopetrosis, Autosomal Recessive 5	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Ventriculomegaly, Splenomegaly, Leukocy...	OMIM:259720
Muenke Syndrome	Hydrocephalus	ORPHA:53271
Metachromatic Leukodystrophy	Urinary incontinence, Abnormal stomach morphology, Abnormal gallbladder morphology, Hemobilia, Ne...	ORPHA:512
Graft Versus Host Disease	Pneumonia, Jaundice, Hepatosplenomegaly, Gastrointestinal inflammation, Lymphadenopathy, Chronic ...	ORPHA:39812
Chronic Granulomatous Disease	Recurrent respiratory infections, Hepatomegaly, Liver abscess, Abnormality of neutrophils, Malabs...	ORPHA:379
Microphthalmia, Isolated 2	Microphthalmia	OMIM:610093
2P15P16.1 Microdeletion Syndrome	Decreased testicular size, Recurrent respiratory infections, Multicystic kidney dysplasia, Optic ...	ORPHA:261349
Isolated Biliary Atresia	Hepatomegaly, Dark yellow urine, Conjugated hyperbilirubinemia, Atretic gallbladder, Splenomegaly...	ORPHA:30391
Immunodeficiency 31C	Impaired lymphocyte transformation with phytohemagglutinin, Recurrent respiratory infections, Vil...	OMIM:614162
Goodpasture Syndrome	Renal insufficiency, Proteinuria, Glomerulonephritis, Cylindruria, Macroscopic hematuria, Nodular...	OMIM:233450
Diaphanospondylodysostosis	Nephrogenic rest, Nephroblastomatosis, Cleft palate, Horseshoe kidney, Abnormal liver lobulation,...	OMIM:608022
Microphthalmia, Isolated, With Coloboma 3	Microphthalmia	OMIM:610092
Galloway-Mowat Syndrome 3	Diffuse mesangial sclerosis, Proteinuria, Hiatus hernia, Stage 5 chronic kidney disease, Nephroti...	OMIM:617729
Tetrasomy 15Q26	Hydrocephalus, Horseshoe kidney, High palate, Atrial septal defect, Hydronephrosis, Dandy-Walker ...	OMIM:614846
Microphthalmia, Isolated 5	Microphthalmia	OMIM:611040
Gaucher Disease Type 1	Hepatomegaly, Pancytopenia, Proteinuria, Pericardial effusion, Hypersplenism, Splenomegaly, Throm...	ORPHA:77259
Tuberous Sclerosis 1	Precocious puberty, Renal cyst, Cardiac rhabdomyoma, Renal cell carcinoma, Adenoma sebaceum, Sube...	OMIM:191100
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Aganglionic megacolon, Abnormally large globe, Hydrocephalus, Abnormal renal morphology, Cleft pa...	OMIM:239300
Tyrosinemia, Type I	Nephrocalcinosis, Paralytic ileus, Renal Fanconi syndrome, Hypophosphatemic rickets, Hepatomegaly...	OMIM:276700
Basal Cell Nevus Syndrome 2	Hydrocephalus	OMIM:620343
Cardiofaciocutaneous Syndrome	Abnormality of the gastrointestinal tract, Abnormal heart valve morphology, Cryptorchidism, Hydro...	ORPHA:1340
Pseudo-Torch Syndrome 2	Lateral ventricle dilatation, Ventriculomegaly	OMIM:617397
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Severe B lymphocytopenia, Portal hypertension, Cryptorchidism, Thrombocytopenia...	OMIM:620005
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Hepatomegaly, Pancytopenia, Renal artery aneurysm, Elevated circulating C-reactive protein concen...	OMIM:615688
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Bifid scrotum, Cryptorchidism, Abnormality of the pancreas, Hydrocephalus, Narrow palate, Cleft p...	ORPHA:1555
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Anisocytosis, Hepatic fibrosis, Hypothyroidism, Hypoparathyroidism,...	ORPHA:231226
Developmental Delay With Or Without Dysmorphic Facies And Autism	Small scrotum, Ventricular septal defect, Supernumerary nipple, Cryptorchidism, Renal hypoplasia,...	OMIM:618454
Common Variable Immunodeficiency	Recurrent respiratory infections, Hemolytic anemia, Pneumonia, Recurrent bronchitis, Autoimmune t...	ORPHA:1572
Oxoglutaric Aciduria	Hydrocephalus	ORPHA:31
Liver Disease, Severe Congenital	Chronic gastritis, Cardiomegaly, Biliary hyperplasia, Leukopenia, Aminoaciduria, Protein-losing e...	OMIM:619991
Peroxisome Biogenesis Disorder 11A (Zellweger)	Multiple renal cysts, Renal cyst	OMIM:614883
Autosomal Dominant Centronuclear Myopathy	Cryptorchidism, Urinary incontinence, Pyloric stenosis, Mildly elevated creatine kinase	ORPHA:169189
Osteopetrosis, Autosomal Recessive 1	Hepatomegaly, Pancytopenia, Splenomegaly, Hydrocephalus, Anemia, Hypocalcemia, Thrombocytopenia	OMIM:259700
Multiple Sulfatase Deficiency	Hydrocephalus, Increased CSF protein concentration, Ventriculomegaly	OMIM:272200
Scrub Typhus	Splenomegaly, Myocarditis, Renal insufficiency, Lymphadenopathy	ORPHA:83317
Waldenström Macroglobulinemia	Gastrointestinal hemorrhage, Normocytic anemia, Renal insufficiency, Hepatomegaly, Abnormality of...	ORPHA:33226
Gaucher Disease	Elevated circulating C-reactive protein concentration, Hepatomegaly, Abnormal pericardium morphol...	ORPHA:355
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Ventricular septal defect, Hypospadias, Unilateral renal agenesis, Cryptorchidism, Renal cyst, Mi...	ORPHA:464311
Trisomy 20P	Hypospadias, Abnormality of the kidney, Spina bifida, Cryptorchidism, Abnormality of the ureter, ...	ORPHA:261318
Mucopolysaccharidosis Type 3	Recurrent sinopulmonary infections, Hepatomegaly, Cardiomegaly, Heparan sulfate excretion in urin...	ORPHA:581
Opitz-Kaveggia Syndrome	Anal stenosis, Hypospadias, Intestinal malrotation, Cryptorchidism, Pyloric stenosis, Hydrocephal...	OMIM:305450
Fanconi Anemia, Complementation Group J	Microphthalmia, Bone marrow hypocellularity	OMIM:609054
Proteasome-Associated Autoinflammatory Syndrome 2	Increased CD4:CD8 ratio, Elevated circulating C-reactive protein concentration, Lymphadenopathy, ...	OMIM:618048
Osteoporosis-Pseudoglioma Syndrome	Microphthalmia, Isosexual precocious puberty	ORPHA:2788
Hurler Syndrome	Recurrent respiratory infections, Hepatomegaly, Abnormal heart valve morphology, Abnormality of t...	ORPHA:93473
Hyperparathyroidism, Transient Neonatal	Communicating hydrocephalus, Hyperparathyroidism, Ventriculomegaly, Unilateral renal agenesis, Ov...	OMIM:618188
Simpson-Golabi-Behmel Syndrome	Ureteral duplication, Hypoplasia of penis, High, narrow palate, Hepatoblastoma, Atrial septal def...	ORPHA:373
Fraser Syndrome	Hypoplasia of penis, Small scrotum, Anophthalmia, Abnormal lung lobation, Urethral atresia, High ...	ORPHA:2052
Sandestig-Stefanova Syndrome	Muscular ventricular septal defect, Perimembranous ventricular septal defect, High palate, Microp...	OMIM:618804
Microphthalmia With Brain And Digit Anomalies	Anophthalmia, Cryptorchidism, High palate, Microphthalmia, Abnormality of the hypothalamus-pituit...	ORPHA:139471
Cataract 9, Multiple Types	Microphthalmia	OMIM:604219
Khan-Khan-Katsanis Syndrome	Ureteral duplication, Ventriculomegaly, Neutropenia, Renal hypoplasia, Renal cyst, Buphthalmos, C...	OMIM:618460
Mevalonic Aciduria	Normocytic hypoplastic anemia, Elevated circulating creatine kinase concentration, Elevated circu...	OMIM:610377
17Q12 Microduplication Syndrome	Atrial septal defect, Microphthalmia, Tracheoesophageal fistula, Cleft palate	ORPHA:261272
Thakker-Donnai Syndrome	Communicating hydrocephalus, Ventricular septal defect, Tracheoesophageal fistula, Rectovaginal f...	ORPHA:1780
Low Phospholipid-Associated Cholelithiasis	Liver abscess, Diabetes mellitus, Cholangitis, Intrahepatic cholestasis, Biliary cirrhosis, Neopl...	ORPHA:69663
Joubert Syndrome 21	Encephalocele, Occipital encephalocele, Anophthalmia, Splenomegaly, Renal cyst, Pulmonary hypopla...	OMIM:615636
Apert Syndrome	Overriding aorta, Ventricular septal defect, Cryptorchidism, Esophageal atresia, Pyloric stenosis...	OMIM:101200
Cranioectodermal Dysplasia 2	Hepatomegaly, Renal insufficiency, Cholangitis, Splenomegaly, Recurrent pneumonia, Biliary cirrho...	OMIM:613610
Boutonneuse Fever	Renal insufficiency, Cervical lymphadenopathy, Lymphadenopathy, Leukopenia, Thrombocytopenia	ORPHA:83313
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Lateral ventricle dilatation	OMIM:619995
Thoracic Dysplasia-Hydrocephalus Syndrome	Communicating hydrocephalus	ORPHA:1861
Knobloch Syndrome	Occipital encephalocele, Dextrocardia, Pyloric stenosis, Hydrocephalus, Vesicoureteral reflux, Ly...	ORPHA:1571
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Nonspherocytic h...	OMIM:235700
Chops Syndrome	Ventricular septal defect, Cryptorchidism, High, narrow palate, Splenomegaly, Anomalous pulmonary...	OMIM:616368
Dyssegmental Dysplasia, Silverman-Handmaker Type	Encephalocele, Cryptorchidism, Hydrocephalus, Cleft palate, Abnormal heart morphology, Pulmonary ...	ORPHA:1865
Alagille Syndrome 1	Multiple small medullary renal cysts, Papillary thyroid carcinoma, Vesicoureteral reflux, Atrial ...	OMIM:118450
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Encephalocele, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	OMIM:613150
Microphthalmia, Syndromic 13	Microphthalmia	OMIM:300915
Nabais Sa-De Vries Syndrome, Type 2	Multicystic kidney dysplasia, Bilateral cleft lip and palate, High palate, Hypoplastic left heart...	OMIM:618829
Diffuse Cutaneous Mastocytosis	Gastrointestinal hemorrhage, Hepatomegaly, Abnormality of the spleen, Lymphadenopathy, Abnormalit...	ORPHA:79456
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Encephalocele, Hydrocephalus, Partial agenesis of the corpus callosum, Dandy-Walker malformation,...	OMIM:614643
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir...	OMIM:617394
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Overweight, Dilated third ventricle, Hydrocephalus, Lateral ventricle dilatation, Failure to thrive	OMIM:619575
Beckwith-Wiedemann Syndrome	Ureteral duplication, Cardiomegaly, Hepatoblastoma, Vesicoureteral reflux, Nephropathy, Polycythe...	ORPHA:116
Joubert Syndrome With Ocular Defect	Encephalocele, Hydrocephalus, Agenesis of corpus callosum	ORPHA:220493
Cutis Laxa, Autosomal Recessive, Type Ic	Accessory spleen, Adrenal hypoplasia, Pyloric stenosis, Rectal prolapse, Atelectasis, Recurrent p...	OMIM:613177
Structural Heart Defects And Renal Anomalies Syndrome	Renal insufficiency, Ventricular septal defect, Partial anomalous pulmonary venous return, Elevat...	OMIM:617478
Apolipoprotein C-Ii Deficiency	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration...	OMIM:207750
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Microphthalmia	OMIM:610023
Galloway-Mowat Syndrome 1	Diffuse mesangial sclerosis, Renal insufficiency, Ventriculomegaly, Proteinuria, Hiatus hernia, H...	OMIM:251300
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Hydrocephalus	ORPHA:163966
Harrod Syndrome	Cryptorchidism, Multicystic kidney dysplasia, High palate, Hypospadias	ORPHA:2115
Carcinoid Syndrome	Chronic noninfectious lymphadenopathy, Hepatic necrosis, Pulmonary carcinoid tumor, Small intesti...	ORPHA:100093
Parenteral Nutrition-Associated Cholestasis	Hepatomegaly, Villous atrophy, Portal hypertension, Conjugated hyperbilirubinemia, Biliary hyperp...	ORPHA:567983
Thanatophoric Dysplasia Type 1	Hydrocephalus, Ventriculomegaly	ORPHA:1860
Budd-Chiari Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Portal hypertension, Malabsorp...	ORPHA:131
Hydrolethalus Syndrome 1	Accessory spleen, Ventricular septal defect, Hypospadias, Bifid uterus, Complete atrioventricular...	OMIM:236680
Chronic Intestinal Pseudoobstruction	Pyloric stenosis, Abnormal intestine morphology, Intestinal malrotation, Abnormal platelet morpho...	ORPHA:2978
Spondylo-Ocular Syndrome	Microphthalmia, Aplasia/Hypoplasia of the lens, Ventricular septal defect, Webbed neck	ORPHA:85194
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hepatomegaly, Hemolytic anemia, Pneumonia, Splenomegaly, Lymphadenopathy, Hypoplasia of the iris,...	ORPHA:169090
Drug Reaction With Eosinophilia And Systemic Symptoms	Renal insufficiency, Eosinophilia, Myocarditis, Hepatitis, Thyroiditis, Lymphadenopathy, Tubuloin...	ORPHA:139402
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Lateral ventricle dilatation	OMIM:620075
Sickle Cell Disease	Hemolytic anemia, Renal insufficiency, Hepatomegaly, Cardiomegaly, Splenomegaly, Splenic infarcti...	OMIM:603903
Tuberous Sclerosis 2	Absence of renal corticomedullary differentiation, Precocious puberty, Renal cyst, Cardiac rhabdo...	OMIM:613254
Acute Promyelocytic Leukemia	Pancytopenia, Metrorrhagia, Diffuse alveolar hemorrhage, Thrombocytopenia, Leukocytosis, Lymphade...	ORPHA:520
Chromosome 17Q12 Deletion Syndrome	Hypoplasia of the bladder, Multicystic kidney dysplasia, Recurrent urinary tract infections, Unil...	OMIM:614527
Dubowitz Syndrome	Hypoparathyroidism, Anal stenosis, Hypospadias, Abnormality of neutrophils, Malabsorption, Crypto...	ORPHA:235
Craniotelencephalic Dysplasia	Microphthalmia, Frontal encephalocele, Optic nerve hypoplasia	OMIM:218670
Cole-Carpenter Syndrome 1	Communicating hydrocephalus, Hydrocephalus	OMIM:112240
Beta-Thalassemia Major	Extramedullary hematopoiesis, Hepatic fibrosis, Hypothyroidism, Hypoparathyroidism, Hepatomegaly,...	ORPHA:231214
Ulnar-Mammary Syndrome	Hypoplasia of penis, Ventricular septal defect, Cryptorchidism, Pyloric stenosis, Renal hypoplasi...	ORPHA:3138
Bleeding Disorder, Platelet-Type, 17	Increased RBC distribution width, Macrothrombocytopenia, Absence of alpha granules, Impaired coll...	OMIM:187900
Hydrocephaly-Low Insertion Umbilicus Syndrome	Communicating hydrocephalus	ORPHA:2184
Aarskog-Scott Syndrome	Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorchidism, Cleft p...	OMIM:305400
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Astrocytosis	ORPHA:309854
Hypocalciuric Hypercalcemia, Familial, Type Iii	Renal insufficiency, Hypercalcemia, Parathormone-independent increased renal tubular calcium reab...	OMIM:600740
Joubert Syndrome 20	Renal cyst	OMIM:614970
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Ureteral stenosis, Hydroureter, Hypercalciuria, Renal cyst, Nephrocalcinosis, High palate, Restri...	OMIM:615398
Selective Igm Deficiency	Decreased proportion of CD4-positive T cells, Recurrent respiratory infections, Recurrent urinary...	ORPHA:331235
Poems Syndrome	Diabetes mellitus, Pericardial effusion, Hypothyroidism, Abnormality of the endocrine system, Pri...	ORPHA:2905
Axial Osteomalacia	Polycystic liver disease, Elevated circulating creatine kinase concentration, Renal cyst	OMIM:109130
Microphthalmia, Syndromic 3	Optic nerve aplasia, Anophthalmia, Hypospadias, Ventricular septal defect, Anterior pituitary hyp...	OMIM:206900
Drug-Induced Autoimmune Hemolytic Anemia	Splenomegaly, Abnormal urinary color, Autoimmune hemolytic anemia, Increased total bilirubin	ORPHA:90037
Mycosis Fungoides	Psoriasiform dermatitis, Lymphadenopathy	OMIM:254400
Igg4-Related Ophthalmic Disease	Cholangitis, Elevated circulating C-reactive protein concentration, Eosinophilia, Orchitis, Retro...	ORPHA:449563
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Hydrocephalus, Ventriculomegaly	OMIM:616538
Cardiofaciocutaneous Syndrome 1	Splenomegaly, Hydrocephalus, Submucous cleft hard palate, High palate, Gastroesophageal reflux, P...	OMIM:115150
Large Congenital Melanocytic Nevus	Hydrocephalus	ORPHA:626
Beemer-Ertbruggen Syndrome	Communicating hydrocephalus, Cryptorchidism	ORPHA:1237
Glycogen Storage Disease Xii	Normocytic anemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly...	OMIM:611881
Developmental Delay With Variable Neurologic And Brain Abnormalities	Microphthalmia	OMIM:619694
Tenorio Syndrome	Hydrocephalus, Ventriculomegaly	OMIM:616260
3P25.3 Microdeletion Syndrome	Ventricular septal defect, High, narrow palate, Pyloric stenosis, Cleft palate, Pulmonic stenosis...	ORPHA:435638
Simpson-Golabi-Behmel Syndrome, Type 1	Abnormal lung lobation, Renal cyst, Hepatoblastoma, Atrial septal defect, Exaggerated median tong...	OMIM:312870
Ohdo Syndrome, X-Linked	Small scrotum, Hiatus hernia, Cryptorchidism, High palate, Shawl scrotum, Microphthalmia, Micropenis	OMIM:300895
Wiskott-Aldrich Syndrome	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m...	OMIM:301000
Hyperlipoproteinemia, Type I	Splenomegaly, Hyperlipidemia, Jaundice, Hepatosplenomegaly, Lactescent serum, Increased circulati...	OMIM:238600
Slc35A2-Cdg	Lateral ventricle dilatation, Failure to thrive in infancy, Dandy-Walker malformation	ORPHA:356961
Mend Syndrome	Cryptorchidism, Elevated 8-dehydrocholesterol, Elevated 8(9)-cholestenol, Hydrocephalus, Cleft pa...	ORPHA:401973
Rabin-Pappas Syndrome	Hydrocephalus, Failure to thrive in infancy, Obesity	OMIM:620155
Microphthalmia With Limb Anomalies	Anophthalmia, Unilateral cryptorchidism, Cleft palate, High palate, Microphthalmia	OMIM:206920
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Microphthalmia	OMIM:267760
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Hydrocephalus, Failure to thrive, Ventriculomegaly	ORPHA:395
Medullary cystic kidney disease 2	Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Enuresis, Tubulointerstitia...	OMIM:603860
Behçet Disease	Gastrointestinal hemorrhage, Glomerulopathy, Pericarditis, Renal insufficiency, Malabsorption, Or...	ORPHA:117
Treacher-Collins Syndrome	Encephalocele, Hypoplasia of penis, Small scrotum, Cryptorchidism, Tracheoesophageal fistula, Cle...	ORPHA:861
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Hypospadias, Unilateral microphthalmos, Bilateral cleft lip and palate, Mitral valve prolapse, Hi...	OMIM:618874
Linear Skin Defects With Multiple Congenital Anomalies 3	Lateral ventricle dilatation, Failure to thrive, Agenesis of corpus callosum	OMIM:300952
Warburg Micro Syndrome 2	Small scrotum, Cryptorchidism, Hypoplastic labia majora, Microphthalmia, Micropenis	OMIM:614225
Immunodeficiency 82 With Systemic Inflammation	Villous atrophy, Decreased proportion of naive T cells, Elevated circulating C-reactive protein c...	OMIM:619381
Bardet-Biedl Syndrome 20	Proteinuria, Bilateral cryptorchidism, Male hypogonadism, Atrial septal defect, Hypercholesterole...	OMIM:619471
Monosomy 18Q	Absence of the pulmonary valve, Secundum atrial septal defect, Bilateral cryptorchidism, Hydrocep...	ORPHA:1600
Dehydrated Hereditary Stomatocytosis 2	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase...	OMIM:616689
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Communicating hydrocephalus, Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic micr...	OMIM:616084
Lateral Meningocele Syndrome	Neurogenic bladder, Ventricular septal defect, Bicuspid aortic valve, Cryptorchidism, Hydrocephal...	OMIM:130720
Kabuki Syndrome	Duplicated collecting system, Hypoplasia of penis, Crossed fused renal ectopia, Hypospadias, Rena...	ORPHA:2322
Severe Generalized Junctional Epidermolysis Bullosa	Urethral stricture, Abnormal blood ion concentration, Renal cyst, Gastrointestinal inflammation, ...	ORPHA:79404
Achondroplasia	Hydrocephalus, Obesity	ORPHA:15
Acrodysostosis 1 With Or Without Hormone Resistance	Unilateral renal agenesis, Cryptorchidism, Hydrocephalus, Elevated circulating thyroid-stimulatin...	OMIM:101800
Hec Syndrome	Communicating hydrocephalus, Vaginal hydrocele	ORPHA:2119
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Occipital encephalocele, Dandy-Walker malformation, Failure to thrive, Meningocele, Colpocephaly,...	ORPHA:397715
Primary Hepatic Neuroendocrine Carcinoma	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Chronic noninfectious lymphadenopa...	ORPHA:100085
Congenital Varicella Syndrome	Microphthalmia	ORPHA:291
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Neutrophilia, Peptic ulcer, Eosinophilia...	ORPHA:98849
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Colpocephaly, Partial agenesis of the corpus callosum, Agenesis of corpus callosum	OMIM:620113
Lymphatic Malformation 6	Splenomegaly, Hydrocele testis, Pleural effusion, Gastroesophageal reflux, Chylothorax, Webbed ne...	OMIM:616843
Oculofaciocardiodental Syndrome	Intestinal malrotation, Submucous cleft hard palate, Cleft palate, Mitral valve prolapse, Abnorma...	ORPHA:2712
Meige Disease	Lymph node hypoplasia, Pleural effusion, Absence of lymph node germinal center	ORPHA:90186
Cockayne Syndrome Type 3	Astrocytosis	ORPHA:90324
Immunodeficiency 87 And Autoimmunity	Atrophic gastritis, Villous atrophy, Elevated circulating C-reactive protein concentration, Atria...	OMIM:619573
Say Syndrome	Proximal renal tubular acidosis, Cleft palate, Cystic renal dysplasia	OMIM:181180
Morgagni-Stewart-Morel Syndrome	Diabetes mellitus, Abnormality of the endocrine system, Abnormality of the thyroid gland, Hyperur...	ORPHA:77296
Immunodeficiency 10	Hypoplasia of the iris, Autoimmune hemolytic anemia, Thrombocytopenia, Lymphadenopathy	OMIM:612783
Immunodeficiency With Hyper-Igm, Type 1	Hemolytic anemia, Hepatomegaly, Absence of lymph node germinal center, Splenomegaly, Enlarged ton...	OMIM:308230
Hereditary Spherocytosis	Reticulocytosis, Hepatomegaly, Extramedullary hematopoiesis, Spontaneous hemolytic crises, Spleno...	ORPHA:822
3Q29 Microdeletion Syndrome	Hypospadias, Horseshoe kidney, High palate, Gastroesophageal reflux, Subvalvular aortic stenosis,...	ORPHA:65286
Peho Syndrome	Hydrocephalus, Ventriculomegaly	ORPHA:2836
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Recurrent respiratory infections, Absent nipple, Aplasia of the thymus, Hypothyroidism, Congenita...	OMIM:620186
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Hyponatremia, Calcinosis, Splenomegaly, Renal hypoplasia, Dysphagia, Nephrocalcinosis, Hypokalemi...	OMIM:617913
Charge Syndrome	Bifid scrotum, Anophthalmia, Aqueductal stenosis, Gastroesophageal reflux, Holoprosencephaly, Ves...	ORPHA:138
Dyskeratosis Congenita	Neoplasm of the pancreas, Recurrent respiratory infections, Hepatomegaly, Esophageal stenosis, Di...	ORPHA:1775
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Hepatomegaly, Atelectasis, Mediastinal lymphadenopathy, Leukocytosis, Bronchiectasis, Abnormal pu...	OMIM:620233
Hajdu-Cheney Syndrome	Recurrent respiratory infections, Hepatomegaly, Ventricular septal defect, Mitral stenosis, Hypos...	ORPHA:955
Multiple Endocrine Neoplasia Type 2	Elevated circulating parathyroid hormone level, Pheochromocytoma, Ganglioneuromatosis, Elevated u...	ORPHA:653
Esophageal Atresia	Bronchitis, Maternal diabetes, Gastrointestinal dysmotility, Anorectal anomaly, Gastroesophageal ...	ORPHA:1199
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Hemoglobinuria, Prolonged ne...	OMIM:300908
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Encephalocele, Hydrocephalus, Agenesis of corpus callosum, Holoprosencephaly	OMIM:253800
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Microphthalmia, High palate, Cleft palate, Oligosacchariduria	ORPHA:163649
Kabuki Syndrome 1	Premature thelarche, High palate, Atrial septal defect, Micropenis, Recurrent aspiration pneumoni...	OMIM:147920
17Q12 Microdeletion Syndrome	Multicystic kidney dysplasia, Renal insufficiency, Diabetes mellitus, Renal hypoplasia/aplasia, C...	ORPHA:261265
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprotein concen...	ORPHA:64753
Braddock-Carey Syndrome 2	Microphthalmia, Thrombocytopenia, Cleft palate	OMIM:619981
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Methylmalonic acidemia, Hypomethioninemia, Renal insufficiency, Proteinuria, Megaloblastic anemia...	OMIM:277400
Multiple Sulfatase Deficiency	Splenomegaly, Hydrocephalus, Mucopolysacchariduria, Hepatomegaly	ORPHA:585
Spherocytosis, Type 1	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia, Cho...	OMIM:182900
Otopalatodigital Syndrome Type 2	Encephalocele, Abnormal heart valve morphology, Hypospadias, Ureteral obstruction, Myelomeningoce...	ORPHA:90652
Bronchial Neuroendocrine Tumor	Hepatomegaly, Pneumonia, Chronic noninfectious lymphadenopathy, Abnormal pulmonary valve cusp mor...	ORPHA:97287
Dubowitz Syndrome	Hypospadias, Aplastic anemia, Cryptorchidism, Velopharyngeal insufficiency, Submucous cleft hard ...	OMIM:223370
Tetrasomy 5P	Hydrocephalus, Failure to thrive	ORPHA:3309
Osteopetrosis, Autosomal Recessive 2	Pancytopenia, Extramedullary hematopoiesis, Hydrocephalus, Hepatosplenomegaly, Anemia, Thrombocyt...	OMIM:259710
Microphthalmia With Linear Skin Defects Syndrome	Abnormal penis morphology, Anophthalmia, Hypospadias, Epispadias, Male pseudohermaphroditism, Dil...	ORPHA:2556
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Absent gallbladder, Septate vagina, Hamartoma of tongue, Esophageal diverticulum, Complete atriov...	OMIM:617925
Cousin Syndrome	Hydrocephalus, Ambiguous genitalia, female, Cleft palate, Ambiguous genitalia, male, Hydranenceph...	OMIM:260660
Ileal Neuroendocrine Tumor	Intestinal fistula, Functional intestinal obstruction, Tricuspid stenosis, Gastrointestinal obstr...	ORPHA:100078
Hypoplasminogenemia	Cervicitis, Duodenal ulcer, Hydrocephalus, Decreased level of plasminogen, Nephrolithiasis, Abnor...	ORPHA:722
Pulmonary Capillary Hemangiomatosis	Pulmonary edema, Diffuse alveolar hemorrhage, Pericardial effusion, Pulmonary capillary hemangiom...	ORPHA:199241
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Methylmalonic acidemia, Hypomethioninemia, Renal insufficiency, Ketonuria, Glomerulopathy, Megalo...	ORPHA:79282
Polysyndactyly With Cardiac Malformation	Atrial septal defect, Ventricular septal defect, Hepatic cysts, Renal cyst	OMIM:263630
Immunodeficiency, Common Variable, 10	Psoriasiform dermatitis, Frequent Giardia lamblia infestation, Decreased response to growth hormo...	OMIM:615577
Immunodeficiency 47	Accessory spleen, Normocytic anemia, Hepatomegaly, Decreased circulating copper concentration, Sp...	OMIM:300972
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps	Hematuria, Renal insufficiency, Elevated circulating creatine kinase concentration, Renal cyst	OMIM:611773
16Q24.3 Microdeletion Syndrome	Cryptorchidism, Colpocephaly, Ventriculomegaly	ORPHA:261250
Cystinosis, Nephropathic	Oral-pharyngeal dysphagia, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuri...	OMIM:219800
Combined Oxidative Phosphorylation Defect Type 39	Cryptorchidism, Lateral ventricle dilatation, Increased CSF lactate	ORPHA:565624
Mycophenolate Mofetil Embryopathy	Hydrocephalus, Agenesis of corpus callosum, Tracheoesophageal fistula	ORPHA:268249
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Microphthalmia	OMIM:251270
9Q31.1Q31.3 Microdeletion Syndrome	Bicuspid aortic valve, Dilated cardiomyopathy, Renovascular hypertension, Type II diabetes mellit...	ORPHA:401923
Schinzel-Giedion Syndrome	Renal cyst, Anteriorly placed anus, High palate, Hepatoblastoma, Myeloid leukemia, Micropenis, St...	ORPHA:798
Hereditary Elliptocytosis	Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma...	ORPHA:288
Joubert Syndrome 35	Recurrent urinary tract infections, Renal fibrosis, Multicystic kidney dysplasia, Hydronephrosis	OMIM:618161
Immunodeficiency 98 With Autoinflammation, X-Linked	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone...	OMIM:301078
Temtamy Syndrome	Microphthalmia	ORPHA:1777
Gaucher Disease, Type Iiic	Hepatomegaly, Mitral valve calcification, Pancytopenia, Cardiomegaly, Splenomegaly, Aortic valve ...	OMIM:231005
Peters Plus Syndrome	Ureteral duplication, Bicuspid pulmonary valve, Clitoral hypoplasia, Abnormal pulmonary vein morp...	ORPHA:709
Atelosteogenesis Type I	Malrotation of colon, Cleft palate, Multiple renal cysts, Pulmonary hypoplasia, Abnormal pancreat...	ORPHA:1190
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Thrombocytopenia, Lymphocytosis, Decreased mean platelet volume	OMIM:617718
Cushing Syndrome Due To Ectopic Acth Secretion	Malignant gastrointestinal tract tumors, Adrenal hyperplasia, Neoplasm of the stomach, Pancreatob...	ORPHA:99889
Ciliary Dyskinesia, Primary, 43	Noncommunicating hydrocephalus	OMIM:618699
Beare-Stevenson Cutis Gyrata Syndrome	Bifid scrotum, Hypospadias, Hydrocephalus, Narrow palate, Hypoplastic labia majora, Anteriorly pl...	OMIM:123790
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Reticulocytosis, Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Jaundi...	OMIM:194380
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration	OMIM:208920
Apert Syndrome	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	ORPHA:87
Lipodystrophy, Congenital Generalized, Type 4	Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Pyloric s...	OMIM:613327
Thoracoabdominal Syndrome	Hypospadias, Renal agenesis, Hydrocephalus, Anencephaly, Cleft palate, Pulmonary hypoplasia, Tran...	OMIM:313850
Spondylocostal Dysostosis 4, Autosomal Recessive	Anal stenosis, Neurogenic bladder, Dextrocardia, Situs inversus totalis, Myelomeningocele, Hydroc...	OMIM:613686
Hyperparathyroidism, Neonatal Severe	Calcinosis, Hepatomegaly, Hyperphosphaturia, Hypercalcemia, Polyuria, Splenomegaly, Primary hyper...	OMIM:239200
Adams-Oliver Syndrome 5	Hypersplenism, Splenomegaly, Portal vein thrombosis, Right atrial enlargement, Esophageal varix, ...	OMIM:616028
Cole-Carpenter Syndrome 2	Hydrocephalus	OMIM:616294
Tetrasomy 9P	Biliary atresia, High palate, Micropenis, Patent foramen ovale, Bifid uvula, Dandy-Walker malform...	ORPHA:3310
Sarcoidosis, Susceptibility To, 1	Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Pericardial effusion, Mediastinal lympha...	OMIM:181000
Chédiak-Higashi Syndrome	Vacuolated lymphocytes, Neutropenia, Abnormal natural killer cell morphology, Hyponatremia, Peric...	ORPHA:167
Townes-Brocks Syndrome 1	Bifid scrotum, Gastroesophageal reflux, Holoprosencephaly, Vesicoureteral reflux, Atrial septal d...	OMIM:107480
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Communicating hydrocephalus, Occipital encephalocele, Multicystic kidney dysplasia, Ventriculomeg...	OMIM:615287
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Bicuspid aortic valve, Truncus arteriosus, Ventricular septal defect, Hypospadias, Spina bifida, ...	ORPHA:508498
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly	OMIM:617260
Thanatophoric Dysplasia, Type I	Hydrocephalus	OMIM:187600
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Hypospadias, Optic nerve hypoplasia, Cryptorchidism, Hypoplastic labia minora, Absence of labia m...	ORPHA:495875
Congenital Disorder Of Glycosylation, Type Iq	Microcytic anemia, Microphthalmia, Dysphagia	OMIM:612379
Cryptococcosis	Lymphoid leukemia, Pneumonia, Nodular pattern on pulmonary HRCT, Mediastinal lymphadenopathy, Per...	ORPHA:1546
Aicardi-Goutieres Syndrome 7	Hemolytic anemia, Atrophic gastritis, Generalized lymphadenopathy, Hepatomegaly, Pneumonia, Pancy...	OMIM:615846
Townes-Brocks Syndrome	Bifid scrotum, Hypoplasia of penis, Ectopic kidney, Anteriorly placed anus, Abnormality of the ut...	ORPHA:857
Stevenson-Carey Syndrome	Atrial septal defect, Microphthalmia, Recurrent urinary tract infections, Gastroesophageal reflux	OMIM:611961
Hyperimmunoglobulinemia D With Periodic Fever	Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Peritonitis, Lymphadenopathy	ORPHA:343
Spondyloenchondrodysplasia	Abnormal lateral ventricle morphology, Ventriculomegaly	ORPHA:1855
Beckwith-Wiedemann Syndrome	Hepatomegaly, Overgrowth of external genitalia, Adrenocortical cytomegaly, Hepatoblastoma, Cardio...	OMIM:130650
Microphthalmia, Syndromic 11	Microphthalmia, Agenesis of pineal gland, Cleft palate	OMIM:614402
Fraser Syndrome 3	Hypoplasia of the bladder, Hypoplasia of penis, Small scrotum, Hydrocephalus, Abnormal lung lobat...	OMIM:617667
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Hypoplasia of penis, Anophthalmia, External genital hypoplasia, Cryptorchidism, Submucous cleft h...	ORPHA:2250
Crimean-Congo Hemorrhagic Fever	Elevated circulating creatine kinase concentration, Leukopenia, Cholecystitis, Hepatomegaly, Neut...	ORPHA:99827
Chromosome 8Q21.11 Deletion Syndrome	Cryptorchidism, Cleft palate, High palate, Microphthalmia, Micropenis	OMIM:614230
Cohen Syndrome	Ventricular septal defect, Aplasia/Hypoplasia of the tongue, Cryptorchidism, High, narrow palate,...	ORPHA:193
Joubert Syndrome With Oculorenal Defect	Encephalocele, Hydrocephalus	ORPHA:2318
Von Hippel-Lindau Syndrome	Neoplasm of the pancreas, Pancreatic cysts, Pulmonary capillary hemangiomatosis, Papillary cystad...	OMIM:193300
Holoprosencephaly 9	Anophthalmia, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasi...	OMIM:610829
8Q21.11 Microdeletion Syndrome	Microphthalmia, Cryptorchidism, Hypoplasia of penis, High palate	ORPHA:284160
Isotretinoin-Like Syndrome	Bicuspid aortic valve, Abnormal cardiac ventricle morphology, Hydrocephalus, Conotruncal defect, ...	ORPHA:2306
Igg4-Related Submandibular Gland Disease	Renal insufficiency, Cholangitis, Eosinophilia, Abnormality of the kidney, Retroperitoneal fibros...	ORPHA:449432
Pallister-Hall Syndrome	Small scrotum, Adrenal hypoplasia, Ectopic kidney, Gonadotropin deficiency, Abnormal lung lobatio...	ORPHA:672
Cutaneous Mastocytoma	Lymphadenopathy	ORPHA:79455
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia	Urethrovesical occlusion, Esophageal atresia, Congenital pyloric atresia, Elevated maternal serum...	OMIM:226730
Chondrodysplasia Punctata 2, X-Linked Dominant	Ventriculomegaly, Elevated 8-dehydrocholesterol, Elevated 8(9)-cholestenol, Microphthalmia, Hydro...	OMIM:302960
Oculogastrointestinal Muscular Dystrophy	Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-...	ORPHA:1876
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Hypoplasia of penis, Dandy-Walker malformation, Ventriculomegaly, Urethrovaginal fistula, Cryptor...	ORPHA:93271
2Q37 Microdeletion Syndrome	Pyloric stenosis, Multicystic kidney dysplasia, Nephroblastoma, Supernumerary nipple	ORPHA:1001
Sting-Associated Vasculopathy, Infantile-Onset	Recurrent respiratory infections, Elevated circulating C-reactive protein concentration, Follicul...	OMIM:615934
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Large for gestational age, Bilateral cryptorchidism, Dysplastic corpus callosum, Lateral ventricl...	ORPHA:544488
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Absent nipple, Hydrocephalus, Mitral valve prolapse, High palate, Ureteral triplication, Hydronep...	OMIM:104350
7Q11.23 Microduplication Syndrome	Ventricular septal defect, Hypospadias, Unilateral renal agenesis, Cryptorchidism, Hydrocephalus,...	ORPHA:96121
Ritscher-Schinzel Syndrome 3	Microphthalmia, Cryptorchidism, Atrioventricular canal defect	OMIM:619135
X-Linked Dominant Chondrodysplasia Punctata	Microphthalmia, Abnormal lung morphology, High palate, Hydronephrosis	ORPHA:35173
Periodic Fever, Familial, Autosomal Dominant	Gastrointestinal hemorrhage, Hepatomegaly, Cervical lymphadenopathy, Hepatic amyloidosis, Pleuritis	OMIM:142680
Heart And Brain Malformation Syndrome	Ventricular septal defect, High, narrow palate, Gastroesophageal reflux, Microphthalmia, Dandy-Wa...	OMIM:616920
Chromosome 17P13.1 Deletion Syndrome	Spina bifida, High, narrow palate, Hydrocephalus, Hydrocele testis, High palate, Webbed neck	OMIM:613776
Joubert Syndrome	Encephalocele, Hydrocephalus	ORPHA:475
Primary Sclerosing Cholangitis	Abnormal eosinophil morphology, Hypoalbuminemia, Hepatic fibrosis, Neoplasm of the gallbladder, A...	ORPHA:171
Osteopetrosis, Autosomal Recessive 7	Hydrocephalus, Lateral ventricle dilatation	OMIM:612301
Dysbetalipoproteinemia	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Acute pancreatitis, ...	ORPHA:412
Williams Syndrome	Hypoplasia of penis, Bicuspid aortic valve, Elevated circulating creatine kinase concentration, C...	ORPHA:904
Glycogen Storage Disease Of Heart, Lethal Congenital	Cardiomegaly, Pericardial effusion, Hydrocephalus, Increased myocardial glycogen content, Biventr...	OMIM:261740
Neuhauser Syndrome	Hypoplasia of the iris, High palate, Primary hypothyroidism, Dysphagia, Hypercholesterolemia, Bif...	OMIM:249310
Immunodeficiency 32A	Lymphadenitis, Lymphadenopathy	OMIM:614893
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Encephalocele, Hydrocephalus	OMIM:224400
Chromosome 17Q12 Duplication Syndrome	Atrial septal defect, Esophageal atresia, Microphthalmia, Cleft soft palate	OMIM:614526
Melkersson-Rosenthal Syndrome	Macroglossia, Furrowed tongue, Lymphadenopathy, Oligosacchariduria	ORPHA:2483
Marburg Hemorrhagic Fever	Abnormality of the gastrointestinal tract, Reticulocytosis, Pericarditis, Renal insufficiency, Ly...	ORPHA:99826
Alexander Disease	Aqueductal stenosis, Hydrocephalus, Failure to thrive, Agenesis of corpus callosum	ORPHA:58
Marshall-Smith Syndrome	Ventricular septal defect, Optic nerve hypoplasia, Bilateral cryptorchidism, Cryptorchidism, Pylo...	OMIM:602535
Granulomatous Disease, Chronic, X-Linked	Hepatomegaly, Liver abscess, Atelectasis, Lymphadenitis, Recurrent pneumonia, Splenomegaly, Lymph...	OMIM:306400
Curry-Jones Syndrome	Microphthalmia, Intestinal malrotation, Ventriculomegaly	ORPHA:1553
Autosomal Recessive Spastic Paraplegia Type 11	Overweight, Hypothalamic atrophy, Lateral ventricle dilatation, Obesity	ORPHA:2822
Supranuclear Palsy, Progressive, 1	Gliosis, Astrocytosis	OMIM:601104
Peroxisome Biogenesis Disorder 4A (Zellweger)	Hepatomegaly, Renal cyst, Increased circulating very long-chain fatty acid concentration	OMIM:614862
Hyperlipoproteinemia, Type Id	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Pancre...	OMIM:615947
Cerebral Visual Impairment	Hydrocephalus	ORPHA:447788
Osteopathia Striata With Cranial Sclerosis	Multicystic kidney dysplasia, Anal stenosis, Ventricular septal defect, Intestinal malrotation, H...	OMIM:300373
Icf Syndrome	Communicating hydrocephalus, Recurrent respiratory infections, Abnormality of neutrophils, Malabs...	ORPHA:2268
Yunis-Varon Syndrome	Ventricular septal defect, Hypospadias, Cardiomegaly, Cryptorchidism, High, narrow palate, Pylori...	ORPHA:3472
Lissencephaly Type 1 Due To Doublecortin Gene Mutation	Lateral ventricle dilatation	ORPHA:2148
Cockayne Syndrome	Hepatomegaly, Neurogenic bladder, Renal insufficiency, Proteinuria, Urinary incontinence, Unilate...	ORPHA:191
Bartsocas-Papas Syndrome 1	Anal stenosis, Absent external genitalia, Bilateral cryptorchidism, Ectopic kidney, Cleft palate,...	OMIM:263650
Okamoto Syndrome	Ureteropelvic junction obstruction, Exaggerated median tongue furrow, Anal stenosis, Ventricular ...	ORPHA:2729
Pfeiffer Syndrome	Hydrocephalus	OMIM:101600
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Recurrent pneumonia, Lymphadenopathy, I...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Recurrent pneumonia, Lymphadenopathy, I...	OMIM:233710
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Hepatomegaly, Abnormal dense granules, Splenomegaly, T...	OMIM:214500
Neuroendocrine Neoplasm Of Appendix	Hepatomegaly, Functional intestinal obstruction, Tricuspid stenosis, Mechanical ileus, Chronic no...	ORPHA:100079
Den Hoed-De Boer-Voisin Syndrome	Overweight, Obesity, Lateral ventricle dilatation, Decreased body weight, Ventriculomegaly	OMIM:619229
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Bicuspid aortic valve, Cardiomegaly, Abnormally large globe, Hydrocephalus, Cleft palate, Mitral ...	OMIM:245600
Mucopolysaccharidosis, Type Vi	Hepatomegaly, Pneumonia, Splenomegaly, Hydrocephalus, Recurrent upper respiratory tract infection...	OMIM:253200
Acute Monoblastic/Monocytic Leukemia	Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Oliguria, Central hypothyroidis...	ORPHA:514
Hyperlipidemia, Familial Combined, 3	Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c...	OMIM:144250
Basal Cell Nevus Syndrome 1	Ovarian fibroma, Spina bifida, Hydrocephalus, Hamartomatous stomach polyps, Cardiac fibroma, Card...	OMIM:109400
Cockayne Syndrome B	Hepatomegaly, Renal insufficiency, Proteinuria, Splenomegaly, Cryptorchidism, Hypoplasia of the i...	OMIM:133540
Lowe Oculocerebrorenal Syndrome	Renal insufficiency, Hyperphosphaturia, Elevated circulating creatine kinase concentration, Eleva...	OMIM:309000
Myoectodermal Gonadal Dysgenesis Syndrome	Accessory spleen, Elevated circulating luteinizing hormone level, Unilateral renal agenesis, Pylo...	OMIM:618419
Wolf-Hirschhorn Syndrome	Accessory spleen, Rieger anomaly, Ventricular septal defect, Hypospadias, Precocious puberty, Cry...	OMIM:194190
Pseudoaminopterin Syndrome	Asplenia, Cryptorchidism, Hydrocephalus, Horseshoe kidney, High palate, Patent foramen ovale	ORPHA:221120
Lipodystrophy, Congenital Generalized, Type 2	Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Elevated hemoglobin A1c, Decreased serum ...	OMIM:269700
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, S...	OMIM:224120
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Recurrent pneumonia, Lymphadenopathy, I...	OMIM:233690
Fontaine Progeroid Syndrome	Atrial septal defect, Small scrotum, Bicuspid aortic valve, Absent nipple, Protruding tongue, Cry...	OMIM:612289
Lipodystrophy, Familial Partial, Type 2	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Acute pancreatitis, ...	OMIM:151660
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Lateral ventricle dilatation, Normal pressure hydrocephalus, Partial agenesis of the corpus callosum	ORPHA:300570
Distal 22Q11.2 Microduplication Syndrome	Ventricular septal defect, Unilateral renal agenesis, Cryptorchidism, Hydrocephalus, Macroglossia...	ORPHA:261337
Temtamy Syndrome	Microphthalmia, Ventriculomegaly	OMIM:218340
Wars2-Related Combined Oxidative Phosphorylation Defect	Dilated fourth ventricle, Lateral ventricle dilatation, Ventriculomegaly	ORPHA:572798
Costello Syndrome	Renal insufficiency, Ventricular septal defect, Pyloric stenosis, Hydrocephalus, Pneumothorax, Mi...	OMIM:218040
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Hypertriglyceridemia, Hepatitis, Cholestasis, Increased LDL cholesterol concentration, Acute hepa...	ORPHA:209902
Crouzon Syndrome	Hydrocephalus	OMIM:123500
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Hydrocele testis, Hydrocephalus, Ventriculomegaly	OMIM:613603
Farber Disease	Intrahepatic cholestasis with episodic jaundice, Nodular pattern on pulmonary HRCT, Atelectasis, ...	ORPHA:333
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Hydrocephalus, Cachexia	ORPHA:220295
Pfeiffer Syndrome Type 2	Aqueductal stenosis, Hydrocephalus	ORPHA:93259
2Q31.1 Microdeletion Syndrome	Ventricular septal defect, Cryptorchidism, Cleft palate, Atrial septal defect, Microphthalmia, Ab...	ORPHA:251014
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Intestinal obstruction, Absent natura...	OMIM:600802
Koolen-De Vries Syndrome Due To A Point Mutation	Bicuspid aortic valve, Decreased response to growth hormone stimulation test, Fetal pyelectasis, ...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Bicuspid aortic valve, Decreased response to growth hormone stimulation test, Fetal pyelectasis, ...	ORPHA:363958
Primary Sjögren Syndrome	Normocytic anemia, Chronic active hepatitis, Bronchitis, Xerostomia, Tubulointerstitial nephritis...	ORPHA:289390
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Communicating hydrocephalus	ORPHA:1064
Autosomal Recessive Malignant Osteopetrosis	Recurrent respiratory infections, Hepatomegaly, Abnormal pulmonary valve morphology, Splenomegaly...	ORPHA:667
Solitary Median Maxillary Central Incisor	Anophthalmia, Decreased response to growth hormone stimulation test, Holoprosencephaly, Microphth...	OMIM:147250
Distal Deletion 15Q	Multicystic kidney dysplasia, Decreased serum insulin-like growth factor 1, Bicuspid aortic valve...	ORPHA:1596
Mend Syndrome	Crossed fused renal ectopia, Cryptorchidism, Hydrocephalus, High palate, Macular hypoplasia, Aort...	OMIM:300960
Proteasome-Associated Autoinflammatory Syndrome 3	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Thrombocytopenia, Lymphadenopathy, Lymphopenia,...	OMIM:617591
Renal Coloboma Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia, Vesicoureteral reflux, Renal...	ORPHA:1475
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Urinary incontinence, Hydrocephalus, Irregular menstruation, Uterine leiomyoma, Gastroesophageal ...	OMIM:616482
Spherocytosis, Type 4	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia	OMIM:612653
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Hypospadias, Optic nerve hypoplasia, Unilateral renal agenesis, Cryptorchidism, Bilateral microph...	ORPHA:468631
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type	Lateral ventricle dilatation, Choroid plexus cyst	ORPHA:293725
Dural Sinus Malformation	Myelopathy, Hydrocephalus	ORPHA:97339
Aicardi Syndrome	Intestinal polyposis, Hiatus hernia, Precocious puberty, Malabsorption, Cleft palate, Gastroesoph...	ORPHA:50
Reynolds Syndrome	Hepatomegaly, Abnormal gastric mucosa morphology, Jaundice, Xerostomia, Gastroesophageal reflux, ...	ORPHA:779
Oculocerebral Hypopigmentation Syndrome, Preus Type	Hydrocephalus	ORPHA:2720
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
Digeorge Syndrome	High, narrow palate, Parathyroid hypoplasia, Abnormal thymus morphology, Hypoplasia of the thymus...	OMIM:188400
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Hydrocephalus, Abnormal renal morphology, Hypoplastic labia majora, Atrial septal defect, Vaginal...	OMIM:207410
Autosomal Recessive Robinow Syndrome	Recurrent respiratory infections, Hypoplasia of penis, Multicystic kidney dysplasia, Ventricular ...	ORPHA:1507
Joubert Syndrome 1	Enlarged fossa interpeduncularis, Protruding tongue, Renal cyst, Occipital myelomeningocele, Macr...	OMIM:213300
Arachnoid Cyst	Encephalocele, Enlarged fossa interpeduncularis, Hydrocephalus, Holoprosencephaly	ORPHA:2356
Aicardi Syndrome	Spina bifida, Hiatus hernia, Precocious puberty, Recurrent pneumonia, Choroid plexus cyst, Cleft ...	OMIM:304050
Spherocytosis, Type 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbi...	OMIM:616649
Trichothiodystrophy 1, Photosensitive	Microphthalmia, Intestinal obstruction, Hypogonadism, Malabsorption	OMIM:601675
Chromosome 13Q14 Deletion Syndrome	Ventricular septal defect, Supernumerary nipple, Cryptorchidism, High palate, Holoprosencephaly, ...	OMIM:613884
Lipodystrophy, Congenital Generalized, Type 1	Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Diabetes mellitus, Decreased serum leptin...	OMIM:608594
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Aqueductal stenosis, Cryptorchidism, Hydrocephalus, Partial agenesis of the corpus callosum, Fail...	OMIM:619512
Epidermolysis Bullosa Simplex With Pyloric Atresia	Renal dysplasia, Elevated circulating creatine kinase concentration, Abnormality of the urethra, ...	ORPHA:158684
Idiopathic Hypereosinophilic Syndrome	Generalized lymphadenopathy, Cholangitis, Colitis, Neutrophilia, Leukocytosis, Dilated cardiomyop...	ORPHA:3260
Steinfeld Syndrome	Absent gallbladder, Abnormal heart morphology, Holoprosencephaly, Microphthalmia, Unilateral rena...	OMIM:184705
Absent Radius-Anogenital Anomalies Syndrome	Hydrocephalus	ORPHA:3016
Glutaryl-Coa Dehydrogenase Deficiency	Communicating hydrocephalus, Ventriculomegaly, Subependymal nodules	ORPHA:25
Cerebrooculonasal Syndrome	Encephalocele, Ventriculomegaly, Anophthalmia, Optic nerve hypoplasia, Hydrocephalus, Cleft palat...	OMIM:605627
Spondyloenchondrodysplasia With Immune Dysregulation	Recurrent respiratory infections, Pneumonia, Autoimmune thrombocytopenia, Lymphadenopathy, T lymp...	OMIM:607944
15Q Overgrowth Syndrome	Ureterovesical stenosis, High, narrow palate, Hydrocephalus, Abnormal renal morphology, Horseshoe...	ORPHA:314585
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Microphthalmia, Cleft palate, Supernumerary nipple	OMIM:620098
Muir-Torre Syndrome	Endometrial carcinoma, Renal neoplasm, Neoplasm of the stomach, Salivary gland neoplasm, Neoplasm...	ORPHA:587
Megalocornea-Intellectual Disability Syndrome	Hypoplasia of the iris, Hypercholesterolemia, High palate, Hypothyroidism	ORPHA:2479
Bardet-Biedl Syndrome 12	Hydroureter, Abdominal mass, Hydrometrocolpos, Cystic renal dysplasia, Hydronephrosis, Hypogonadi...	OMIM:615989
X-Linked Intellectual Disability, Snyder Type	Hypospadias, Ectopic kidney, Cryptorchidism, Cleft palate, High palate, Abnormality of the Leydig...	ORPHA:3063
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Microphthalmia, Renal dysplasia, Cleft palate, Abnormal heart morphology	OMIM:618571
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	ORPHA:457284
Aicardi-Goutieres Syndrome 9	Lateral ventricle dilatation, Failure to thrive, Weight loss	OMIM:619487
Genitopatellar Syndrome	Multicystic kidney dysplasia, Small scrotum, Ventricular septal defect, Enlarged labia minora, An...	OMIM:606170
Robinow Syndrome	Decreased serum testosterone concentration, Multicystic kidney dysplasia, Small scrotum, Ventricu...	ORPHA:97360
Gaucher Disease Type 3	Recurrent respiratory infections, Mitral valve calcification, Hepatomegaly, Abnormal heart valve ...	ORPHA:77261
Postaxial Acrofacial Dysostosis	Abnormality of the kidney, Supernumerary nipple, Cryptorchidism, Pyloric stenosis, Midgut malrota...	OMIM:263750
Lhermitte-Duclos Disease	Hydrocephalus	ORPHA:65285
Cog5-Cdg	Cryptorchidism, Lateral ventricle dilatation	ORPHA:263487
Mowat-Wilson Syndrome	Bifid scrotum, Ventricular septal defect, Hypospadias, Supernumerary nipple, Aganglionic megacolo...	OMIM:235730
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Hydrocephalus	OMIM:618590
Carney Triad	Gastrointestinal hemorrhage, Gastrointestinal stroma tumor, Mediastinal lymphadenopathy, Adrenal ...	ORPHA:139411
Lethal Omphalocele-Cleft Palate Syndrome	Hydrocephalus	ORPHA:2736
Frontorhiny	Encephalocele, Cleft palate, Basal encephalocele, Cranium bifidum occultum, Microphthalmia, Hypop...	ORPHA:391474
Focal Dermal Hypoplasia	Ureteral duplication, Anophthalmia, Intestinal malrotation, Supernumerary nipple, Hiatus hernia, ...	OMIM:305600
Chronic Visceral Acid Sphingomyelinase Deficiency	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Abnormal heart valve...	ORPHA:77293
Marfanoid-Progeroid-Lipodystrophy Syndrome	Lateral ventricular asymmetry, Hydrocephalus	OMIM:616914
Lysinuric Protein Intolerance	Hepatomegaly, Hypolysinemia, Increased circulating ferritin concentration, Splenomegaly, Thromboc...	OMIM:222700
Johanson-Blizzard Syndrome	Conjugated hyperbilirubinemia, Anteriorly placed anus, Hepatic fibrosis, Hypocalcemia, Atrial sep...	OMIM:243800
Craniopharyngioma	Abnormal hypothalamus morphology, Hydrocephalus, Obesity	ORPHA:54595
Frontonasal Dysplasia 3	Microphthalmia, Cleft palate	OMIM:613456
Isolated Posterior Meningocele	Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Occipital meningocele	ORPHA:268810
Hallermann-Streiff Syndrome	Recurrent respiratory infections, Spina bifida, Cryptorchidism, High, narrow palate, Recurrent pn...	OMIM:234100
Skin Creases, Congenital Symmetric Circumferential, 1	Cleft palate, High palate, Hypoplastic nipples, Microphthalmia, Dandy-Walker malformation	OMIM:156610
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Splenomegaly, Renal hypoplasia, Spinal dysraphism, Webbed neck, Nephroblastoma	OMIM:612918
Hereditary Cryohydrocytosis With Reduced Stomatin	Communicating hydrocephalus, Spontaneous hemolytic crises, Conjugated hyperbilirubinemia, Jaundic...	ORPHA:168577
Renpenning Syndrome 1	Ventricular septal defect, Hypospadias, Phimosis, Situs inversus totalis, Renal hypoplasia, Cleft...	OMIM:309500
Idiopathic Uveal Effusion Syndrome	Microphthalmia, Increased CSF protein concentration	ORPHA:209956
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Bifid scrotum, Bicuspid aortic valve, Urinary incontinence, Cleft hard palate, Asplenia, Vesicour...	ORPHA:261537
Nk-Cell Enteropathy	Colonic diverticula, Duodenal ulcer, Abnormal gastric mucosa morphology, Increased T cell count, ...	ORPHA:263665
Hyper-Igd Syndrome	Neutrophilia, Lymphadenitis, Splenomegaly, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Ren...	OMIM:260920
Curry-Jones Syndrome	Anal stenosis, Intestinal pseudo-obstruction, Intestinal malrotation, Lipomyelomeningocele, Micro...	OMIM:601707
Monosomy 9Q22.3	Hydrocephalus, Ventriculomegaly, Large for gestational age	ORPHA:77301
Teebi-Shaltout Syndrome	Ureteral stenosis, Ventricular septal defect, High, narrow palate, Horseshoe kidney, Cleft palate...	OMIM:272950
Steinert Myotonic Dystrophy	Intestinal pseudo-obstruction, Decreased response to growth hormone stimulation test, Oral-pharyn...	ORPHA:273
Distal Renal Tubular Acidosis	Hemolytic anemia, Hyperphosphaturia, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria,...	ORPHA:18
Monosomy 9P	Hypospadias, Cryptorchidism, Cleft palate, High palate, Webbed neck, Ambiguous genitalia, Microph...	ORPHA:261112
Acro-Renal-Ocular Syndrome	Renal malrotation, Aganglionic megacolon, Optic disc hypoplasia, Renal hypoplasia/aplasia, Horses...	ORPHA:959
Lmna-Related Cardiocutaneous Progeria Syndrome	Ventricular hypertrophy, Mitral valve calcification, Hypertriglyceridemia, Emphysema, Pulmonary c...	ORPHA:363618
Overhydrated Hereditary Stomatocytosis	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase...	OMIM:185000
Holoprosencephaly 7	Alobar holoprosencephaly, Hydrocephalus, Partial agenesis of the corpus callosum, Lobar holoprose...	OMIM:610828
Adams-Oliver Syndrome 1	Encephalocele, Bicuspid aortic valve, Ventricular septal defect, Supernumerary nipple, Pulmonary ...	OMIM:100300
Frontofacionasal Dysplasia	Encephalocele, Microphthalmia, Cleft palate	ORPHA:1791
Microphthalmia With Limb Anomalies	Cryptorchidism, Hydrocephalus, Cleft palate, Horseshoe kidney, High palate, Microphthalmia, True ...	ORPHA:1106
Cerebrocostomandibular Syndrome	Anal stenosis, Ventricular septal defect, Cleft soft palate, Ectopic kidney, Renal cyst, Horsesho...	OMIM:117650
Capillary Malformation-Arteriovenous Malformation	Neurogenic bladder, Hydrocephalus, Abnormality of the lymphatic system, Abnormal heart morphology...	ORPHA:137667
Mowat-Wilson Syndrome	Bifid scrotum, Bicuspid aortic valve, Urinary incontinence, Cleft hard palate, Asplenia, Gastroin...	ORPHA:2152
Bor Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Cleft palate, Vesico...	ORPHA:107
Shprintzen-Goldberg Craniosynostosis Syndrome	Cryptorchidism, Hydrocephalus, Narrow palate, Mitral valve prolapse, Gastroesophageal reflux, Hig...	OMIM:182212
Aymé-Gripp Syndrome	Pericarditis, Proteinuria, Pericardial effusion, Cryptorchidism, Hydrocephalus, Cleft palate, Bre...	ORPHA:1272
Adenocarcinoma Of The Anal Canal	Anal stenosis, Anal canal adenocarcinoma, Rectal prolapse, Lymphadenopathy, Neoplasm of the rectu...	ORPHA:424016
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Microphthalmia	OMIM:152950
Frontonasal Dysplasia 2	Bilateral cryptorchidism, Microphthalmia, Encephalocele	OMIM:613451
Carney Complex	Neoplasm of the stomach, Hepatocellular carcinoma, Thyroid carcinoma, Papillary thyroid carcinoma...	ORPHA:1359
Noonan Syndrome 14	Cryptorchidism, Lateral ventricle dilatation	OMIM:619745
Proteus Syndrome	Thymus hyperplasia, Testicular neoplasm, Enlarged polycystic ovaries, Lymphangioma, Splenomegaly,...	ORPHA:744
Congenital Myopathy 22A, Classic	Normal pressure hydrocephalus	OMIM:620351
Iniencephaly	Encephalocele, Spina bifida, Hydrocephalus, Myelomeningocele, Anencephaly, Spinal dysraphism, Hol...	ORPHA:63259
Laurin-Sandrow Syndrome	Cryptorchidism, Hydrocephalus	ORPHA:2378
Neuroendocrine Tumor Of The Colon	Hepatomegaly, Chronic noninfectious lymphadenopathy, Abnormal pulmonary valve cusp morphology, Me...	ORPHA:100080
3Q29 Microduplication Syndrome	Ventricular septal defect, Cleft palate, Ectopic anus, High palate, Aniridia, Microphthalmia	ORPHA:251038
Manitoba Oculotrichoanal Syndrome	Anal stenosis, Anophthalmia, Anteriorly placed anus, Microphthalmia, Vaginal atresia	OMIM:248450
Proteasome-Associated Autoinflammatory Syndrome 4	Hepatomegaly, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy	OMIM:619183
Proteasome-Associated Autoinflammatory Syndrome 1	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Elevated circulating...	OMIM:256040
Raine Syndrome	Hydroureter, Protruding tongue, Hydrocephalus, Cleft palate, High palate, Pulmonary hypoplasia, H...	OMIM:259775
Cornelia De Lange Syndrome	Hypoplasia of penis, High palate, Abnormality of the uterus, Gastroesophageal reflux, Vesicourete...	ORPHA:199
Branchiooculofacial Syndrome	Anophthalmia, Hypospadias, Renal agenesis, Supernumerary nipple, Malrotation of colon, Cryptorchi...	OMIM:113620
Bosma Arhinia Microphthalmia Syndrome	Hypogonadotropic hypogonadism, Hypospadias, Cryptorchidism, Cleft palate, Primary amenorrhea, Hyp...	OMIM:603457
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects	Cryptorchidism, Colpocephaly, Failure to thrive	OMIM:620083
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Bifid scrotum, Hypospadias, Cryptorchidism, Horseshoe kidney, Clitoral hypoplasia, High palate, T...	OMIM:609945
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Secondary amenorrhea, Primary am...	OMIM:157640
Junctional Epidermolysis Bullosa With Pyloric Atresia	Urethral stricture, Renal dysplasia, Renal duplication, Urinary bladder inflammation, Congenital ...	ORPHA:79403
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Anteriorly placed anus, Microphthalmia, Abnormal cardiac septum morphology, Anal atresia	ORPHA:1352
Hepatic Lipase Deficiency	Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration	OMIM:614025
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Optic nerve hypoplasia, High, narrow palate, Bilateral microphthalmos, Cleft palate, Ethmoidal en...	OMIM:607597
Myoclonic-Astatic Epilepsy	Microphthalmia	ORPHA:1942
Cerebrocostomandibular Syndrome	Multicystic kidney dysplasia, Ventricular septal defect, Spina bifida, Myelomeningocele, Meningoc...	ORPHA:1393
Trichothiodystrophy	Ventriculomegaly, Ventricular septal defect, High, narrow palate, Cryptorchidism, Recurrent bronc...	ORPHA:33364
Pancreatoblastoma	Jaundice, Pancreatic calcification, Elevated maternal serum alpha-fetoprotein, Abnormal lymph nod...	ORPHA:677
Neuroendocrine Tumor Of The Rectum	Hepatomegaly, Chronic noninfectious lymphadenopathy, Abnormal pulmonary valve cusp morphology, He...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Hepatomegaly, Chronic noninfectious lymphadenopathy, Abnormal pulmonary valve cusp morphology, He...	ORPHA:100082
Microphthalmia, Syndromic 2	Anophthalmia, Ventricular septal defect, Dextrocardia, Hypospadias, Septate vagina, Cryptorchidis...	OMIM:300166
Tangier Disease	Orange discolored tonsils, Hypertriglyceridemia, Chronic noninfectious lymphadenopathy, Thrombocy...	ORPHA:31150
Proboscis Lateralis	Anophthalmia, Ventricular septal defect, External genital hypoplasia, Unilateral renal agenesis, ...	ORPHA:141099
Cockayne Syndrome A	Hepatomegaly, Renal insufficiency, Proteinuria, Cryptorchidism, Splenomegaly, Irregular menstruat...	OMIM:216400
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Lateral ventricle dilatation	ORPHA:457279
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Decreased response to growth hormone stimulation test, Premature thelarche, Gastroesophageal refl...	ORPHA:268261
Microcephaly-Micromelia Syndrome	Aqueductal stenosis, Microphthalmia, Pulmonary hypoplasia, Cleft palate	OMIM:251230
Lenz-Majewski Hyperostotic Dwarfism	Abnormal penis morphology, Hypospadias, External genital hypoplasia, Epispadias, Cryptorchidism, ...	ORPHA:2658
Bartsocas-Papas Syndrome 2	Microphthalmia, Bilateral cleft lip and palate	OMIM:619339
Skin Creases, Congenital Symmetric Circumferential, 2	Small scrotum, Hypospadias, Cryptorchidism, Cleft palate, Ureterocele, Microphthalmia, Ventriculo...	OMIM:616734
Neurofibromatosis, Type I	Astrocytoma, Spina bifida, Aqueductal stenosis, Hydrocephalus, Optic nerve glioma	OMIM:162200
Blepharophimosis, Ptosis, And Epicanthus Inversus	Premature ovarian insufficiency, Female infertility, Increased circulating gonadotropin level, Ir...	OMIM:110100
Juvenile Polyposis Syndrome	Neoplasm of the stomach, Rectal prolapse, Multiple gastric polyps, Hematochezia, Hypokalemia, Hyp...	OMIM:174900
Neu-Laxova Syndrome 1	Ventriculomegaly, Ventricular septal defect, Renal agenesis, Spina bifida, Bifid uterus, Cryptorc...	OMIM:256520
Fetal Alcohol Syndrome	Atrial septal defect, Microphthalmia, Cleft palate	ORPHA:1915
Klatskin Tumor	Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy	ORPHA:99978
Cole-Carpenter Syndrome	Communicating hydrocephalus	ORPHA:2050
Aregenerative Anemia	Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari...	ORPHA:101096
Full Nf2-Related Schwannomatosis	Astrocytoma, Glioma, Myelopathy, Hydrocephalus, Ependymoma	ORPHA:637
Holoprosencephaly 13, X-Linked	Colpocephaly, Semilobar holoprosencephaly, Agenesis of corpus callosum, Alobar holoprosencephaly	OMIM:301043
Von Hippel-Lindau Disease	Neoplasm of the pancreas, Elevated urinary catecholamine level, Pancreatic islet cell adenoma, Pa...	ORPHA:892
Rothmund-Thomson Syndrome, Type 2	Cryptorchidism, Anteriorly placed anus, High palate, Hypogonadism, Microphthalmia, Annular pancreas	OMIM:268400
Riddle Syndrome	Generalized lymphadenopathy, Pneumonia, Bronchitis, Elevated circulating alpha-fetoprotein concen...	ORPHA:420741
Neurocardiofaciodigital Syndrome	Dilated fourth ventricle, Lateral ventricle dilatation, Failure to thrive, Small for gestational age	OMIM:619869
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Bifid scrotum, Bicuspid aortic valve, Urinary incontinence, Cleft hard palate, Asplenia, Vesicour...	ORPHA:261552
Wiedemann-Rautenstrauch Syndrome	Recurrent respiratory infections, Hypertriglyceridemia, Hypospadias, Pneumonia, Secundum atrial s...	OMIM:264090
Trisomy 10P	Absent gallbladder, Abnormality of the kidney, Dysphagia, Abnormal heart morphology, Multiple ren...	ORPHA:171929
Chromosome 1P36 Deletion Syndrome, Distal	Bicuspid aortic valve, Ectopic kidney, Abnormal lung lobation, High palate, Gastroesophageal refl...	OMIM:607872
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Lymphadenopath...	OMIM:617099
Acute Generalized Exanthematous Pustulosis	Renal insufficiency, Neutrophilia, Eosinophilia, Leukocytosis, Cholestasis, Lymphadenopathy, Neut...	ORPHA:293173
Acrofacial Dysostosis 1, Nager Type	Ventricular septal defect, Aganglionic megacolon, Unilateral renal agenesis, Aqueductal stenosis,...	OMIM:154400
Shprintzen-Goldberg Syndrome	Communicating hydrocephalus, Cryptorchidism, Failure to thrive, Ventriculomegaly	ORPHA:2462
Congenital Primary Aphakia	Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia	ORPHA:83461
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Renal neoplasm, Repeated pneumothoraces, Atelectasis, Hydrocephalus, Mitral valve prolapse, High ...	ORPHA:536467
Sacral Defect With Anterior Meningocele	Myeloschisis, Hydrocephalus, Meningocele, Myelomeningocele, Dermal sinus tract	OMIM:600145
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Hydrocephalus	OMIM:616007
Gastrointestinal Stromal Tumor	Gastrointestinal hemorrhage, Intestinal obstruction, Neoplasm of the stomach, Gastrointestinal st...	ORPHA:44890
Ataxia-Oculomotor Apraxia 4	Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration	OMIM:616267
Peroxisome Biogenesis Disorder 1B	Hyperoxaluria, Hepatomegaly, Renal cyst, Hepatic fibrosis, Cirrhosis	OMIM:601539
Atelis Syndrome 2	Thrombocytopenia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemi...	OMIM:620185
Spondyloepimetaphyseal Dysplasia, Krakow Type	Decreased serum insulin-like growth factor 1, Hydrocephalus, High palate, Atrial septal defect, A...	OMIM:618162
Achondroplasia	Hydrocephalus	OMIM:100800
Medulloblastoma	Hydrocephalus	ORPHA:616
Coloboma, Ocular, Autosomal Dominant	Vesicoureteral reflux, Optic nerve aplasia, Microphthalmia, Ventriculomegaly	OMIM:120200
Mohr Syndrome	Hydrocephalus	OMIM:252100
Trichothiodystrophy 4, Nonphotosensitive	Microphthalmia, Ventricular septal defect, Decreased fertility	OMIM:234050
Weaver Syndrome	Hydrocele testis, Cryptorchidism, Lateral ventricle dilatation, Ventriculomegaly	OMIM:277590
Neuroendocrine Tumor Of Stomach	Hepatomegaly, Chronic noninfectious lymphadenopathy, Abnormal pulmonary valve cusp morphology, He...	ORPHA:100075
Radio-Renal Syndrome	Multicystic kidney dysplasia, Renal agenesis, Renal hypoplasia/aplasia, High, narrow palate, Chyl...	ORPHA:3015
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia	OMIM:167730
Xeroderma Pigmentosum, Complementation Group B	Microphthalmia, Hypogonadism, Ventriculomegaly	OMIM:610651
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Microphthalmia, Optic nerve hypoplasia	OMIM:614833
Kawasaki Disease	Glossitis, Pericarditis, Abnormal heart valve morphology, Proteinuria, Myocarditis, Recurrent pha...	ORPHA:2331
Microphthalmia, Syndromic 1	Hydroureter, Bicuspid aortic valve, Hypospadias, Aganglionic megacolon, Anophthalmia, Renal hypop...	OMIM:309800
Limb Body Wall Complex	Encephalocele, Ventricular septal defect, Abnormality of the kidney, Spina bifida, Myelomeningoce...	ORPHA:2369
Meningioma	Decreased circulating cortisol level, Urinary incontinence, Reduced circulating prolactin concent...	ORPHA:2495
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Bifid scrotum, Hepatic steatosis, Ventricular septal defect, Hypospadias, Bicuspid aortic valve, ...	OMIM:619475
Lymphedema-Distichiasis Syndrome	Ventricular septal defect, Cleft palate, Chylothorax, Webbed neck, Microphthalmia, Tetralogy of F...	OMIM:153400
Nance-Horan Syndrome	Microphthalmia	ORPHA:627
Branchio-Oculo-Facial Syndrome	Multicystic kidney dysplasia, Renal agenesis, High palate, Hydronephrosis	ORPHA:1297
Congenital Analbuminemia	Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Recurrent lower ...	ORPHA:86816
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Lateral ventricle dilatation, Ventriculomegaly	OMIM:619479
Peters-Plus Syndrome	Hypoplasia of the vagina, Ureteral duplication, Ventricular septal defect, Bilobate gallbladder, ...	OMIM:261540
Mandibuloacral Dysplasia With Type A Lipodystrophy	Calcinosis, Hepatomegaly, Hyperlipidemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, ...	OMIM:248370
Sturge-Weber Syndrome	Hydrocephalus	ORPHA:3205
Wiedemann-Rautenstrauch Syndrome	Optic disc hypoplasia, Decreased response to growth hormone stimulation test, Congenital malforma...	ORPHA:3455
Hallermann-Streiff Syndrome	Cryptorchidism, High, narrow palate, Glossoptosis, Abdominal situs inversus, Microphthalmia, Hypo...	ORPHA:2108
Thauvin-Robinet-Faivre Syndrome	Renal malrotation, Transient neutropenia, Ventricular septal defect, Renal cyst, Mitral valve pro...	OMIM:617107
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia	OMIM:611038
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Communicating hydrocephalus, Ventriculomegaly, Large for gestational age	OMIM:617011
6Q Terminal Deletion Syndrome	Colpocephaly, Failure to thrive, Obesity	ORPHA:75857
Gabriele-De Vries Syndrome	Cryptorchidism, Lateral ventricle dilatation	OMIM:617557
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Precocious puberty, Microphthalmia, Anophthalmia, Hypospadias	OMIM:615877
Microphthalmia, Syndromic 6	Small scrotum, Female hypogonadism, Anophthalmia, Adrenal hypoplasia, Cryptorchidism, Microglossi...	OMIM:607932
Pierson Syndrome	Diffuse mesangial sclerosis, Rieger anomaly, Hypoplasia of the ciliary body, Proteinuria, Stage 5...	OMIM:609049
Orofaciodigital Syndrome Type 1	Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Hamartoma of tongue, Pancreatic c...	ORPHA:2750
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Hepatomegaly, Severe B lymphocytopenia, Biliary hyperplasia, Cryptorchidism, Pyloric stenosis, Cl...	ORPHA:83617
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Ventricular septal defect, Renal cyst, Horseshoe kidney	OMIM:250410
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Absent gallbladder, Overriding aorta, Renal hypoplasia/aplasia, Abnormal localization of kidney, ...	ORPHA:3186
Immunodeficiency 96	Recurrent lower respiratory tract infections, Multicystic kidney dysplasia, Increased mean corpus...	OMIM:619774
Campomelic Dysplasia	Hypospadias, Spina bifida, Hydrocephalus, Submucous cleft hard palate, Recurrent upper respirator...	OMIM:114290
Genitourinary And/Or Brain Malformation Syndrome	Dysplastic corpus callosum, Cryptorchidism, Colpocephaly, Holoprosencephaly, Agenesis of corpus c...	OMIM:618820
African Trypanosomiasis	Hepatomegaly, Pericarditis, Renal insufficiency, Urinary incontinence, Abnormality of the menstru...	ORPHA:3385
Incontinentia Pigmenti	Hypoplasia of the fovea, Eosinophilia, Supernumerary nipple, Leukocytosis, Breast aplasia, Hypopl...	OMIM:308300
8Q24.3 Microdeletion Syndrome	Gastrointestinal hemorrhage, Ectopic posterior pituitary, Ventricular septal defect, Optic nerve ...	ORPHA:508488
Keppen-Lubinsky Syndrome	Lateral ventricle dilatation, Failure to thrive	OMIM:614098
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia, Recurrent upper respiratory tract infections, Bilateral microphthalmos	ORPHA:2399
Lipodystrophy, Familial Partial, Type 7	Hypertriglyceridemia, Spontaneous pneumothorax, Polyuria, Pulmonary arteriovenous malformation, R...	OMIM:606721
Viss Syndrome	Chronic gastritis, High, narrow palate, Right ventricular dilatation, High palate, Gastroesophage...	OMIM:619472
Cutis Laxa, Autosomal Recessive, Type Iic	Bilateral cryptorchidism, Pyloric stenosis, Pneumothorax, Mitral valve prolapse, Biventricular hy...	OMIM:617402
Blau Syndrome	Clear cell renal cell carcinoma, Pericarditis, Splenomegaly, Xerostomia, Stage 5 chronic kidney d...	ORPHA:90340
Cerebrooculofacioskeletal Syndrome 4	Bilateral microphthalmos, Abnormal heart morphology	OMIM:610758
Semilobar Holoprosencephaly	Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end...	ORPHA:220386
Alobar Holoprosencephaly	Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end...	ORPHA:93926
Lobar Holoprosencephaly	Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end...	ORPHA:93924
Anterior Segment Dysgenesis 5	Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia	OMIM:604229
Reynolds Syndrome	Calcinosis, Gastrointestinal hemorrhage, Hepatomegaly, Splenomegaly, Jaundice, Biliary cirrhosis,...	OMIM:613471
Phace Association	Ventricular septal defect, Optic nerve hypoplasia, Congenital hypothyroidism, Microphthalmia, Lin...	OMIM:606519
Alpha-Mannosidosis, Infantile Form	Communicating hydrocephalus, Pancytopenia, Recurrent urinary tract infections, Pneumonia, Hepatos...	ORPHA:309282
Mucopolysaccharidosis Type 2	Communicating hydrocephalus, Hepatomegaly, Abnormal heart valve morphology, Abnormal pulmonary va...	ORPHA:580
Otodental Syndrome	Microphthalmia, Lens coloboma	ORPHA:2791
Microphthalmia, Isolated 8	Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia	OMIM:615113
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Renal malrotation, Multicystic kidney dysplasia, Transient neutropenia, Ventricular septal defect...	ORPHA:500095
Oculotrichoanal Syndrome	Anteriorly placed anus, Microphthalmia, Anal stenosis, Anophthalmia	ORPHA:2717
Pelvis-Shoulder Dysplasia	Microphthalmia, Spina bifida occulta	OMIM:169550
Igg4-Related Dacryoadenitis And Sialadenitis	Retroperitoneal fibrosis, Enlarged lacrimal glands, Xerostomia, Thyroiditis, Lymphadenopathy, Enl...	ORPHA:79078
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia	Esophageal stenosis, Congenital pyloric atresia	OMIM:619817
Alström Syndrome	Urinary incontinence, Decreased response to growth hormone stimulation test, Functional abnormali...	ORPHA:64
Deafness, X-Linked 7	Unilateral microphthalmos	OMIM:301018
Autosomal Dominant Kenny-Caffey Syndrome	Bilateral microphthalmos, Anemia, Abnormal circulating follicle-stimulating hormone concentration...	ORPHA:93325
Autosomal Recessive Cutis Laxa Type 1	Recurrent urinary tract infections, Pyloric stenosis, Dilatation of the ventricular cavity, Pneum...	ORPHA:90349
Helsmoortel-Van Der Aa Syndrome	Cryptorchidism, Obesity, Truncal obesity, Lateral ventricle dilatation, Gliosis, Failure to thriv...	OMIM:615873
Neuromuscular Oculoauditory Syndrome	Reduced renal corticomedullary differentiation, Multiple renal cysts, Elevated circulating creati...	OMIM:618733
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Communicating hydrocephalus, Slender build, Ventriculomegaly, Large for gestational age	ORPHA:457359
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome	Cryptorchidism, Colpocephaly	ORPHA:477993
Kenny-Caffey Syndrome, Type 2	Hypoparathyroidism, Transient hypophosphatemia, Hyperphosphatemia, Hypocalcemia, Microphthalmia, ...	OMIM:127000
Ectodermal Dysplasia-Blindness Syndrome	Microphthalmia, Recurrent respiratory infections	ORPHA:1806
Holoprosencephaly 1	Adrenal hypoplasia, Alobar holoprosencephaly, Single ventricle, Microphthalmia, Micropenis, Ethmo...	OMIM:236100
Pituitary Deficiency Due To Rathke Cleft Cysts	Hydrocephalus	ORPHA:91350
Hypercholesterolemia, Familial, 3	Hypercholesterolemia, Abnormal LDL cholesterol concentration, Xanthelasma	OMIM:603776
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Lateral ventricle dilatation, Gliosis, Large for gestational age	OMIM:300868
Neurofibromatosis Type 1	Abnormality of the upper urinary tract, Precocious puberty, Cryptorchidism, Hydrocephalus, Abnorm...	ORPHA:636
Gallbladder Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy, Biliary tract neoplasm, Extrahepatic cholestasis, Intermit...	ORPHA:100086
Incontinentia Pigmenti	Microphthalmia, Spina bifida occulta, Eosinophilia, Supernumerary nipple	ORPHA:464
Myhre Syndrome	Ventricular septal defect, Pericardial effusion, Cryptorchidism, Cleft palate, Atrial septal defe...	OMIM:139210
Chilton-Okur-Chung Neurodevelopmental Syndrome	Communicating hydrocephalus, Crossed fused renal ectopia, Septo-optic dysplasia, Hypospadias, Ant...	OMIM:619841
Malt Lymphoma	Recurrent respiratory infections, Abnormality of the thyroid gland, Mediastinal lymphadenopathy, ...	ORPHA:52417
Leptospirosis	Hepatomegaly, Pericarditis, Cellular urinary casts, Jaundice, Hepatitis, Lymphadenopathy, Hyperpr...	ORPHA:509
Premature Aging Syndrome, Penttinen Type	Microphthalmia, Elevated circulating thyroid-stimulating hormone concentration, Thin skin	OMIM:601812
Baller-Gerold Syndrome	Optic nerve hypoplasia, Anomalous splenoportal venous system, Abnormality of the kidney, Hydrocep...	OMIM:218600
Ataxia With Vitamin E Deficiency	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Xanthelasma	OMIM:277460
Hypercholesterolemia, Familial, 2	Increased LDL cholesterol concentration, Hypercholesterolemia, Xanthelasma	OMIM:144010
Exudative Vitreoretinopathy 2, X-Linked	Microphthalmia	OMIM:305390
Osteogenesis Imperfecta	Abnormal endocardium morphology, Intestinal obstruction, Ventriculomegaly, Hydrocephalus, Hyperca...	ORPHA:666
Split Cord Malformation	Neurogenic bladder, Hypospadias, Urinary incontinence, Detrusor sphincter dyssynergia, Cervical s...	ORPHA:573278
Vitreoretinochoroidopathy	Microphthalmia	OMIM:193220
Coffin-Siris Syndrome 12	Hypospadias, Celiac disease, Cryptorchidism, Velopharyngeal insufficiency, Submucous cleft hard p...	OMIM:619325
Autosomal Dominant Keratitis	Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A...	ORPHA:2334
Phace Syndrome	Optic nerve hypoplasia, Lens coloboma, Abnormal heart morphology, Abnormal cardiac septum morphol...	ORPHA:42775
C Syndrome	Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Cryptorchidism, Abnormality of the anus, ...	ORPHA:1308
Oculodentodigital Dysplasia	Neurogenic bladder, Cleft palate, High palate, Atrial septal defect, Microphthalmia	OMIM:164200
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Microphthalmia	OMIM:617306
Familial Exudative Vitreoretinopathy	Microphthalmia	ORPHA:891
Abdominal Obesity-Metabolic Syndrome 3	Hypertriglyceridemia, Increased LDL cholesterol concentration, Type II diabetes mellitus, Hyperch...	OMIM:615812
Rodrigues Blindness	Microphthalmia	OMIM:268320
Linear Nevus Sebaceus Syndrome	Microphthalmia, Ventriculomegaly, Adenoma sebaceum, Dandy-Walker malformation	ORPHA:2612
Cornea Plana 2, Autosomal Recessive	Microphthalmia	OMIM:217300
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Lateral ventricle dilatation	OMIM:618367
Oculodentodigital Dysplasia, Autosomal Recessive	Microphthalmia	OMIM:257850
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Buphthalmos, Microphthalmia	OMIM:212550
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Ventricular septal defect, Renal hypoplasia/aplasia, Hydrocephalus, Abnormal renal morphology, Ab...	ORPHA:363700
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Renal cyst	OMIM:615560
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Multicystic kidney dysplasia, Hypospadias, Aganglionic megacolon, Unilateral renal agenesis, Rena...	OMIM:308205
Fetal Akinesia Deformation Sequence 1	Cryptorchidism, High, narrow palate, Hydrocephalus, Cleft palate, High palate, Pulmonary hypoplasia	OMIM:208150
Pallister-Killian Syndrome	Small scrotum, Renal cyst, Anteriorly placed anus, Atrial septal defect, Bifid uvula, Hypospadias...	OMIM:601803
Anterior Segment Dysgenesis 7	Buphthalmos, Microphthalmia	OMIM:269400
Microphthalmia, Isolated, With Coloboma 9	Microphthalmia	OMIM:615145
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Microphthalmia, Supernumerary nipple	ORPHA:1236
Monosomy 13Q14	Abnormality of the gastrointestinal tract, Microphthalmia, Holoprosencephaly, Webbed neck	ORPHA:1587
Momo Syndrome	Abnormality of the thyroid gland, Bilateral microphthalmos, High palate	ORPHA:2563
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Anophthalmia, Chylothorax, Leukemia, Atrial septal defect, Microphthalmia, Pleural effusion	ORPHA:2526
Anterior Segment Dysgenesis 2	Aniridia, Microphthalmia, Congenital aphakia, Anterior segment of eye aplasia	OMIM:610256
Ulnar-Mammary Syndrome	Ectopic posterior pituitary, Small scrotum, Ventricular septal defect, Anterior pituitary hypopla...	OMIM:181450
Microphthalmia, Isolated, With Corectopia	Microphthalmia	OMIM:156900
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Microphthalmia, Hypotriglyceridemia	ORPHA:85167
Witteveen-Kolk Syndrome	Hypospadias, Decreased response to growth hormone stimulation test, Unilateral cryptorchidism, Ph...	OMIM:613406
Systemic Lupus Erythematosus	Hemolytic anemia, Proteinuria, Lupus nephritis, Pyuria, Lymphadenopathy, Hematuria, Leukopenia, T...	ORPHA:536
Cutis Marmorata Telangiectatica Congenita	Displacement of the urethral meatus, Multicystic kidney dysplasia, Ascites, Hypothyroidism	ORPHA:1556
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Microphthalmia, Microglossia, Cleft palate	ORPHA:364577
Holoprosencephaly 2	Median cleft lip and palate, Adrenal hypoplasia, Alobar holoprosencephaly, Submucous cleft hard p...	OMIM:157170
Treacher Collins Syndrome 1	Cleft soft palate, Cryptorchidism, Bilateral microphthalmos, Cleft palate, Abnormal heart morphol...	OMIM:154500
Loeys-Dietz Syndrome 1	Bicuspid aortic valve, Eosinophilic infiltration of the esophagus, Hydrocephalus, Bicuspid pulmon...	OMIM:609192
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Hydrocephalus, Ventriculomegaly	OMIM:253280
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Microphthalmia	ORPHA:231736
Immunodeficiency 55	Absent natural killer cells, Lymphopenia, Neutropenia, Lymphadenopathy	OMIM:617827
Plague	Hepatomegaly, Hematemesis, Lymphadenitis, Splenomegaly, Enterocolitis, Endocarditis, Enlarged mes...	ORPHA:707
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Exaggerated median tongue furrow, Ventricular septal defect, Ventricular septal hypertrophy, Clef...	OMIM:608670
Pmm2-Cdg	Elevated circulating thyroid-stimulating hormone concentration, Hyperplastic labia majora, Hypoal...	ORPHA:79318
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Lymphadenopathy, Anemia, Hepatosplenomegaly	ORPHA:85408
Otopalatodigital Syndrome, Type Ii	Hypospadias, Spina bifida, Cryptorchidism, Hydrocephalus, Cleft palate, Atrial septal defect, Hyd...	OMIM:304120
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Microphthalmia, High palate, Homocystinuria, Bifid uvula	OMIM:601552
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Microphthalmia	OMIM:618727
Craniofacial Microsomia 1	Occipital encephalocele, Multicystic kidney dysplasia, Anophthalmia, Ventricular septal defect, R...	OMIM:164210
Oculopalatocerebral Syndrome	Microphthalmia, Cleft palate	OMIM:257910
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Abnormal lateral ventricle morphology, Cryptorchidism, Obesity, Hydrocele testis, Failure to thrive	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Abnormal lateral ventricle morphology, Cryptorchidism, Obesity, Hydrocele testis, Failure to thrive	ORPHA:353277
Nance-Horan Syndrome	Microphthalmia	OMIM:302350
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Bilateral cryptorchidism, Hydrocephalus, Hypogonadism, Anemia	ORPHA:3042
Spondylocarpotarsal Synostosis Syndrome	Cleft palate, Renal cyst	OMIM:272460
Oculoauricular Syndrome	Phthisis bulbi, Macular hypoplasia, Microphakia, Microphthalmia, Spina bifida occulta	OMIM:612109
Loeys-Dietz Syndrome 2	Bicuspid aortic valve, Spontaneous pneumothorax, Eosinophilic infiltration of the esophagus, Hydr...	OMIM:610168
Oculo-Palato-Cerebral Syndrome	Microphthalmia, High, narrow palate, Cleft palate	ORPHA:2714
Norrie Disease	Hypoplasia of the iris, Microphthalmia, Buphthalmos	OMIM:310600
Persistent Hyperplastic Primary Vitreous	Buphthalmos, Microphthalmia, Phthisis bulbi, Macular hypoplasia	ORPHA:91495
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Bicuspid aortic valve, Muscular ventricular septal defect, Perimembranous ventricular septal defe...	OMIM:612474
Xeroderma Pigmentosum, Complementation Group D	Microphthalmia	OMIM:278730
Congenital Disorder Of Glycosylation, Type Iim	Lateral ventricle dilatation	OMIM:300896
Acrofrontofacionasal Dysostosis 1	Microphthalmia, Cleft palate	OMIM:201180
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Failure to thrive in infancy, Dysplastic corpus callosum, Lateral ventricle dilatation, Progressi...	ORPHA:500150
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Buphthalmos, Microphthalmia, Phthisis bulbi	OMIM:221900
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Cranium bifidum occultum, Microphthalmia, Tetralogy of Fallot, Cleft palate	ORPHA:306542
Norrie Disease	Aplasia/Hypoplasia of the lens, Diabetes mellitus, Cryptorchidism, Hypoplasia of the iris, Erecti...	ORPHA:649
Chikungunya	Cervical lymphadenopathy, Lymphadenopathy	ORPHA:324625
Neuroocular Syndrome	Hypoplasia of the fovea, Short uvula, Submucous cleft hard palate, Lens coloboma, Ankyloglossia, ...	OMIM:619539
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Hemolytic anemia, Elevated circulating creatine kinase concentration, Hydrocephalus, Hypoplasia o...	OMIM:175780
Frontofacionasal Dysplasia	Cranium bifidum occultum, Microphthalmia, Bifid uvula	OMIM:229400
Homozygous Familial Hypercholesterolemia	Hyperlipidemia, Renal steatosis, Increased LDL cholesterol concentration, Renal artery stenosis, ...	ORPHA:391665
Osteoporosis-Pseudoglioma Syndrome	Microphthalmia, Phthisis bulbi, Ventricular septal defect	OMIM:259770
Isolated Arrhinia	Microphthalmia	ORPHA:1134
Microcephaly 29, Primary, Autosomal Recessive	Reduced renal corticomedullary differentiation, Hyperechogenic kidneys	OMIM:620047

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.

Phenotype	Allele	Zygosity	Life Stage
Brain - MPATH pathological process term hypoplasia	Pdcd6ip^em1(IMPC)Mbp	HOM	Early adult
Testis - MPATH pathological process term hypoplasia	Pdcd6ip^em1(IMPC)Mbp	HOM	Late adult
Brain - MPATH pathological entity term hydrocephalus	Pdcd6ip^em1(IMPC)Mbp	HOM	Early adult
Brain - MPATH pathological process term hypoplasia	Pdcd6ip^em1(IMPC)Mbp	HOM	Late adult
Testis - MPATH pathological process term atrophy	Pdcd6ip^em1(IMPC)Mbp	HOM	Early adult

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 Pdcd6ip.

No publications found that use IMPC mice or data for Pdcd6ip.

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MGI Allele	Allele Type	Produced
Pdcd6ip^em1(IMPC)Mbp	Exon Deletion	Mice, Tissue
Pdcd6ip^{em1(IMPC)Hmgu}	Indel	Mice
Pdcd6ip^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Pdcd6ip^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Pdcd6ip MGI:1333753

Gene Summary

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IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

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Histopathology

X-ray

Human diseases caused by Pdcd6ip mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data