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
abnormal skin morphology	Pdcd6ip^em1(IMPC)Mbp	HOM	Late adult	0.00
increased mean platelet volume	Pdcd6ip^em1(IMPC)Mbp	HOM	Early adult	3.97×10^-05
hydrocephaly	Pdcd6ip^em1(IMPC)Mbp	HOM	Late adult	0.00
small heart	Pdcd6ip^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal seminal vesicle morphology	Pdcd6ip^em1(IMPC)Mbp	HOM	Late adult	0.00
decreased body length	Pdcd6ip^em1(IMPC)Mbp	HOM	Early adult	7.30×10^-05
decreased brain size	Pdcd6ip^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal stomach morphology	Pdcd6ip^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal kidney morphology	Pdcd6ip^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal testis morphology	Pdcd6ip^em1(IMPC)Mbp	HOM	Early adult	0.00
decreased body length	Pdcd6ip^em1(IMPC)Mbp	HOM	Late adult	2.41×10^-05
decreased brain size	Pdcd6ip^em1(IMPC)Mbp	HOM	Late adult	0.00
microphthalmia	Pdcd6ip^em1(IMPC)Mbp	HOM	Late adult	0.00
polycystic kidney	Pdcd6ip^em1(IMPC)Mbp	HOM	Late adult	0.00
enlarged stomach	Pdcd6ip^em1(IMPC)Mbp	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
enlarged lymph nodes	Pdcd6ip^{em1(IMPC)Hmgu}	HOM	Late adult	0.00
abnormal eye morphology	Pdcd6ip^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal brain morphology	Pdcd6ip^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal lung morphology	Pdcd6ip^em1(IMPC)Mbp	HOM	Late adult	0.00
preweaning lethality, incomplete penetrance	Pdcd6ip^em1(IMPC)Mbp	HOM	Early adult	0.00
increased grip strength	Pdcd6ip^em1(IMPC)Mbp	HOM	Late adult	4.14×10^-05
abnormal lymph node morphology	Pdcd6ip^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal brain morphology	Pdcd6ip^em1(IMPC)Mbp	HOM	Late adult	0.00
increased grip strength	Pdcd6ip^{em1(IMPC)Hmgu}	HOM	Late adult	1.12×10^-09
decreased brain weight	Pdcd6ip^em1(IMPC)Mbp	HOM	Early adult	0.00
increased circulating alkaline phosphatase level	Pdcd6ip^em1(IMPC)Mbp	HOM	Early adult	7.67×10^-05
decreased circulating bilirubin level	Pdcd6ip^em1(IMPC)Mbp	HOM	Late adult	1.05×10^-05
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 testis morphology	Pdcd6ip^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal spleen morphology	Pdcd6ip^em1(IMPC)Mbp	HOM	Late adult	0.00
small testis	Pdcd6ip^em1(IMPC)Mbp	HOM	Early adult	0.00
small kidney	Pdcd6ip^em1(IMPC)Mbp	HOM	Late adult	0.00
increased blood urea nitrogen level	Pdcd6ip^em1(IMPC)Mbp	HOM	Late adult	3.46×10^-05
abnormal heart morphology	Pdcd6ip^em1(IMPC)Mbp	HOM	Early adult	0.00
enlarged spleen	Pdcd6ip^em1(IMPC)Mbp	HOM	Late adult	0.00
enlarged seminal vesicle	Pdcd6ip^em1(IMPC)Mbp	HOM	Late adult	0.00

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Histopathology

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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 (1571 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	Ventriculomegaly, Hydrocephalus	OMIM:236600
Chromosome 8Q12.1-Q21.2 Deletion Syndrome	Hydrocephalus	OMIM:600257
Megalencephaly, Autosomal Dominant	Hydrocephalus	OMIM:155350
Chudley-Mccullough Syndrome	Ventriculomegaly, Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Hydrocephalus	OMIM:604213
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	Ventriculomegaly, Hydrocephalus	OMIM:615938
Craniofacial Conodysplasia	Hydrocephalus	ORPHA:85168
Bleeding Disorder, Platelet-Type, 24	Impaired ristocetin-induced platelet aggregation, Impaired epinephrine-induced platelet aggregati...	OMIM:619271
Meckel Syndrome, Type 8	Encephalocele, Polycystic kidney dysplasia, Ambiguous genitalia, Enlarged kidney, Occipital encep...	OMIM:613885
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2	Ventriculomegaly, Hydrocephalus	OMIM:615937
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Agenesis of corpus callosum, Hydrocephalus	OMIM:166990
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Hydrocephalus	ORPHA:2807
Polycystic Kidney Disease 5	Hepatosplenomegaly, Polycystic kidney dysplasia, Stage 5 chronic kidney disease, Enlarged kidney,...	OMIM:617610
Pineocytoma	Increased CSF protein concentration, Hydrocephalus	ORPHA:251912
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome	Hydrocephalus	ORPHA:2703
Alg13-Cdg	Abnormal lateral ventricle morphology, Decreased body weight	ORPHA:324422
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Normal pressure hydrocephalus, Ventriculomegaly	OMIM:611808
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Abnormal lymph node morphology	OMIM:136580
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Macrothrombocytopenia, Impaired epinephrine-induced platelet aggregation, Giant platelets, Impair...	OMIM:155100
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy	Slender build, Astrocytosis, Ventriculomegaly	OMIM:611087
Bleeding Disorder, Platelet-Type, 16	Macrothrombocytopenia, Anemia, Giant platelets, Impaired platelet aggregation, Thrombocytopenia, ...	OMIM:187800
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Ventriculomegaly, Hydrocephalus	OMIM:618709
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome	Dandy-Walker malformation, Hydrocephalus	ORPHA:1538
Renal-Hepatic-Pancreatic Dysplasia 1	Situs inversus totalis, Polycystic kidney dysplasia, Enlarged kidney, Asplenia, Cholestasis, Atri...	OMIM:208540
Edinburgh Malformation Syndrome	Failure to thrive, Hydrocephalus	OMIM:129850
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Absence of renal corticomedullary differentiation, Polycystic kidney dysplasia, Hyperechogenic ki...	OMIM:263200
Squamous Cell Carcinoma Of The Esophagus	Lymphadenopathy, Esophageal carcinoma	ORPHA:99977
Hydrocephalus, Autosomal Dominant	Dandy-Walker malformation, Hydrocephalus	OMIM:123155
Lissencephaly 4	Colpocephaly, Agenesis of corpus callosum	OMIM:614019
Thrombocytopenia With Beta-Thalassemia, X-Linked	Reticulocytosis, Hemolytic anemia, Reduced platelet alpha granules, Increased RBC distribution wi...	OMIM:314050
Atypical Teratoid Rhabdoid Tumor	Hydrocephalus	ORPHA:99966
Bleeding Disorder, Platelet-Type, 15	Thrombocytopenia, Increased mean platelet volume, Platelet anisocytosis	OMIM:615193
Beemer Lethal Malformation Syndrome	Hydrocephalus	OMIM:209970
Pulmonary Nodular Lymphoid Hyperplasia	Mediastinal lymphadenopathy, Plasmacytosis, Follicular hyperplasia, Nodular pattern on pulmonary ...	ORPHA:60026
Nephronophthisis 16	Situs inversus totalis, Polycystic kidney dysplasia, Stage 5 chronic kidney disease, Enlarged kid...	OMIM:615382
Masa Syndrome	Ventriculomegaly, Agenesis of corpus callosum, Hydrocephalus	OMIM:303350
Bernard-Soulier Syndrome	Macrothrombocytopenia, Impaired ristocetin-induced platelet aggregation, Giant platelets, Thrombo...	OMIM:231200
Hepatic Venoocclusive Disease With Immunodeficiency	Endocardial fibrosis, Absence of lymph node germinal center, Abnormality of the liver	OMIM:235550
Band Heterotopia	Ventriculomegaly, Agenesis of corpus callosum, Lateral ventricle dilatation, Hydrocephalus	OMIM:600348
Bardet-Biedl Syndrome 16	Recurrent respiratory infections, Stage 5 chronic kidney disease, Hypogonadism, Renal cyst, Exter...	OMIM:615993
Femoral-Facial Syndrome	Polycystic kidney dysplasia, Maternal diabetes, Cryptorchidism, Renal hypoplasia/aplasia, Cleft p...	ORPHA:1988
Congenital Disorder Of Glycosylation, Type Iid	Dandy-Walker malformation, Hydrocephalus	OMIM:607091
Meckel Syndrome, Type 1	Polycystic kidney dysplasia, Asplenia, Occipital encephalocele, Cleft palate, Ventriculomegaly, L...	OMIM:249000
Myh9-Related Disease	Congenital thrombocytopenia, Giant platelets, Increased mean platelet volume, Menorrhagia, Neutro...	ORPHA:182050
Distal Triplication 15Q	Polycystic kidney dysplasia, Hydronephrosis, Abnormality of the kidney, Dilatation of the renal p...	ORPHA:314588
Combined Oxidative Phosphorylation Deficiency 34	Hepatomegaly, Increased blood urea nitrogen, Hypergonadotropic hypogonadism, Elevated circulating...	OMIM:617872
Peroxisome Biogenesis Disorder 2A (Zellweger)	Hypoplasia of the thymus, Polycystic kidney dysplasia, Jaundice, Cryptorchidism, Clitoral hypertr...	OMIM:214110
Carcinoma Of Esophagus	Gastroesophageal reflux, Abnormal intestine morphology, Dysphagia, Lymphadenopathy, Esophageal ne...	ORPHA:70482
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Polycystic kidney dysplasia, Enlarged kidney, Hepatomegaly, Elevated circulating creatine kinase ...	OMIM:608836
Epilepsy, Pyridoxine-Dependent	Hydrocephalus	OMIM:266100
Dandy-Walker Syndrome	Dilated fourth ventricle, Hydrocephalus	OMIM:220200
1Q21.1 Microduplication Syndrome	Cryptorchidism, Gastroesophageal reflux, Tetralogy of Fallot, Hydrocephalus, Hypospadias	ORPHA:250994
Hyperparathyroidism 2 With Jaw Tumors	Polycystic kidney dysplasia, Renal cortical adenoma, Parathyroid carcinoma, Recurrent pancreatiti...	OMIM:145001
Bleeding Disorder, Platelet-Type, 21	Impaired platelet aggregation, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Incre...	OMIM:617443
Platelet Glycoprotein Iv Deficiency	Giant platelets, Thrombocytopenia	OMIM:608404
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Polycystic kidney dysplasia, Cardiomyopathy, Hepatomegaly, Elevated circulating creatine kinase c...	ORPHA:228308
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Pancreatic hypoplasia, Polycystic kidney dysplasia, Renal cyst, Diabetes mellitus, Hiatus hernia,...	OMIM:610199
Congenital Disorder Of Glycosylation, Type Il	Hepatosplenomegaly, Polycystic kidney dysplasia, Hepatomegaly, Pericardial effusion, Abnormal car...	OMIM:608776
Methylmalonic Acidemia With Homocystinuria	Failure to thrive, Hydrocephalus	ORPHA:26
Mantle Cell Lymphoma	Abnormality of the gastrointestinal tract, Lymphadenopathy, Splenomegaly	ORPHA:52416
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Hydrocephalus	ORPHA:1008
Caroli Disease	Cholangitis, Polycystic kidney dysplasia, Jaundice, Leukocytosis, Liver abscess, Intrahepatic cho...	ORPHA:53035
Giant platelet syndrome with thrombocytopenia	Giant platelets, Thrombocytopenia	OMIM:137560
Hereditary Amyloidosis With Primary Renal Involvement	Decreased glomerular filtration rate, Hepatomegaly, Male infertility, Intestinal perforation, Hep...	ORPHA:85450
Gillessen-Kaesbach-Nishimura Syndrome	Polycystic kidney dysplasia, Pulmonary hypoplasia, Abnormal heart morphology, Periportal fibrosis...	OMIM:263210
Holoprosencephaly 5	Hydrocephalus, Lobar holoprosencephaly, Alobar holoprosencephaly, Semilobar holoprosencephaly, La...	OMIM:609637
Microphthalmia, Syndromic 12	Cryptorchidism, Ventricular septal defect, Pulmonary hypoplasia, Microphthalmia, Cleft palate, Bi...	OMIM:615524
Autosomal Recessive Polycystic Kidney Disease	Polycystic kidney dysplasia, Enlarged kidney, Cholestasis, Protein-losing enteropathy, Recurrent ...	ORPHA:731
Bardet-Biedl Syndrome 10	Renal insufficiency, Hypogonadism, Renal cyst	OMIM:615987
Peroxisome Biogenesis Disorder 5A (Zellweger)	Polycystic kidney dysplasia, Ventricular septal defect, Cholestasis, Hypoplastic nipples, Atrial ...	OMIM:614866
Congenital Hydrocephalus	Colpocephaly, Hydrocephalus, Ventriculomegaly	ORPHA:2185
Burkitt Lymphoma	Hyperuricemia, Abnormality of the liver, Abnormality of the ovary, Intestinal obstruction, Abnorm...	ORPHA:543
Adenocarcinoma Of The Esophagus	Barrett esophagus, Gastroesophageal reflux, Lymphadenopathy, Esophageal carcinoma	ORPHA:99976
Caroli Syndrome	Polycystic kidney dysplasia, Abnormality of the kidney, Leukocytosis, Hepatomegaly, Conjugated hy...	ORPHA:480520
46,Xy Sex Reversal 4	Hydronephrosis, Anal atresia, High palate, Agonadism, Ureteropelvic junction obstruction, Hypopla...	OMIM:154230
Pelger-Huet Anomaly	Hyposegmentation of neutrophil nuclei, Ventricular septal defect, Abnormality of neutrophils, Gia...	OMIM:169400
Pontocerebellar Hypoplasia, Type 15	Agenesis of corpus callosum, Partial agenesis of the corpus callosum, Hydrocephalus	OMIM:619302
Trisomy 17P	Macroglossia, Polycystic kidney dysplasia, Hydronephrosis, High palate, Hypoplastic left heart, H...	ORPHA:261290
Matthew-Wood Syndrome	Cryptorchidism, Abnormal spleen morphology, Horseshoe kidney, Pulmonary hypoplasia, Microphthalmi...	ORPHA:2470
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Recurrent urinary tract infections, Polycystic kidney dysplasia, Jaundice, Situs inversus totalis...	OMIM:613095
Alpha-1-Antitrypsin Deficiency	Hepatocellular carcinoma, Chronic bronchitis, Cirrhosis, Panacinar emphysema, Bronchiectasis, Red...	OMIM:613490
Syndromic Diarrhea	Polycystic kidney dysplasia, Ventricular septal defect, Atrial septal defect, Tetralogy of Fallot...	ORPHA:84064
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Cryptorchidism, Ventricular septal defect, Ectopic kidney, Hepatomegaly, Microphthalmia, Ventricu...	OMIM:613730
Hereditary Progressive Mucinous Histiocytosis	Lymphadenopathy, Mucinous histiocytosis	ORPHA:158025
Syndromic Recessive X-Linked Ichthyosis	Cryptorchidism, Hypogonadism, Testicular seminoma, Renal insufficiency, Unilateral renal agenesis...	ORPHA:281090
Immunodeficiency 104	Gastroesophageal reflux, Hepatomegaly, Lymphadenopathy, Pneumonia, Splenomegaly, T lymphocytopenia	OMIM:608971
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency	Lymphadenopathy	ORPHA:319600
Interstitial Nephritis, Karyomegalic	Renal tubular cyst, Proteinuria, Renal interstitial fibrosis, Stage 5 chronic kidney disease, Gly...	OMIM:614817
Hydrocephalus, Congenital, 3, With Brain Anomalies	Hydranencephaly, Hydrocephalus, Holoprosencephaly, Ventriculomegaly, Dandy-Walker malformation	OMIM:617967
Polyrrhinia	Abnormal third ventricle morphology, Lateral ventricle dilatation	ORPHA:141091
Prune Belly Syndrome	Aplasia/Hypoplasia of the lungs, Ventricular septal defect, Atrial septal defect, Hydroureter, Te...	ORPHA:2970
Diencephalic Syndrome	Decreased body weight, Cachexia, Hydrocephalus	ORPHA:1672
Peroxisome Biogenesis Disorder 3A (Zellweger)	Polycystic kidney dysplasia, Hepatomegaly, Increased circulating very long-chain fatty acid conce...	OMIM:614859
RCAD (renal cysts and diabetes)	Diabetes mellitus, Multiple renal cysts, Abnormality of the liver	DECIPHER:47
Kleeblattschaedel	Hydrocephalus	OMIM:148800
Dextrocardia	Pancreatic hypoplasia, Abnormal renal morphology, Situs inversus totalis, Dextrocardia, Abnormali...	ORPHA:1666
Axial Mesodermal Dysplasia Spectrum	Hydronephrosis, Anal atresia, Gastroesophageal reflux, Abnormal intestine morphology, Abnormal mo...	ORPHA:1834
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Ventriculomegaly, Hydrocephalus	OMIM:614830
Hydrolethalus Syndrome 2	Ventriculomegaly, Anencephaly, Agenesis of corpus callosum, Hydrocephalus	OMIM:614120
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Hemophagocytosis, Acute lymphoblastic leukemia, Nephroblastoma, Acute myeloid leukemia, Hepatospl...	ORPHA:158057
Thrombocytopenia 4	Abnormal platelet volume, Thrombocytopenia	OMIM:612004
Sitosterolemia 1	Episodic hemolytic anemia, Reduced haptoglobin level, Elevated circulating sitosterol concentrati...	OMIM:210250
Sporadic Creutzfeldt-Jakob Disease	Gliosis, Astrocytosis, Increased CSF protein concentration	ORPHA:204
Hepatorenocardiac Degenerative Fibrosis	Hepatocellular carcinoma, Renal interstitial fibrosis, Hepatosplenomegaly, Jaundice, Enlarged kid...	OMIM:619902
Infantile Sialic Acid Storage Disease	Vacuolated lymphocytes, High palate, Hydrocephalus, Hepatomegaly, Nephrotic syndrome, Conjugated ...	OMIM:269920
Gombo Syndrome	Delayed puberty, Microphthalmia, Abnormal heart morphology	OMIM:233270
22Q11.2 Deletion Syndrome	Polycystic kidney dysplasia, Abnormal pulmonary valve morphology, Atelectasis, Tetralogy of Fallo...	ORPHA:567
Biemond Syndrome Ii	Hydrocephalus	OMIM:210350
Non Rare In Europe: Central Precocious Puberty	Obesity, Hypothalamic hamartoma, Increased body weight, Hydrocephalus	ORPHA:759
Corpus Callosum, Partial Agenesis Of, X-Linked	Ventriculomegaly, Partial agenesis of the corpus callosum, Hydrocephalus	OMIM:304100
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant	Macrothrombocytopenia	OMIM:619840
Nephronophthisis 14	Situs inversus totalis, Polycystic kidney dysplasia, Nephronophthisis	OMIM:614844
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Polycystic kidney dysplasia, High palate, Renal cyst, Pulmonary hypoplasia, Hepatic fibrosis, Cle...	OMIM:614091
Campomelia, Cumming Type	Polycystic liver disease, Polycystic kidney dysplasia, Pancreatic cysts, Polysplenia	OMIM:211890
Congenital Toxoplasmosis	Jaundice, Anemia, Hydrocephalus, Hepatomegaly, Microphthalmia, Ventriculomegaly, Thrombocytopenia...	ORPHA:858
Carnitine Palmitoyltransferase Ii Deficiency	Polycystic kidney dysplasia, Stage 5 chronic kidney disease, Tubulointerstitial nephritis, Decrea...	ORPHA:157
Multiple Acyl-Coa Dehydrogenase Deficiency	Polycystic kidney dysplasia, Hyperammonemia, Cardiomyopathy, Elevated circulating acylcarnitine c...	ORPHA:26791
Cystic Echinococcosis	Abnormality of the peritoneum, Jaundice, Cholestatic liver disease, Biliary tract obstruction, Re...	ORPHA:400
Slc35A1-Cdg	Giant platelets, Thrombocytopenia, Abnormal platelet granules, Neutropenia	ORPHA:238459
Takenouchi-Kosaki Syndrome	Cryptorchidism, Pulmonic stenosis, Thrombocytopenia, Increased mean platelet volume, Abnormal car...	OMIM:616737
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis	Hydrocephalus	OMIM:236660
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Goiter, Renal cortical adenoma, Papillary renal cell carcinoma, Nodular goiter, Colon cancer, Pap...	ORPHA:97290
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Impaired ristocetin-induced platelet aggregation, Hemolytic anemia, Stomatocytosis, Thrombocytope...	OMIM:153670
Meckel Syndrome 14	Polycystic kidney dysplasia, Ambiguous genitalia, Pulmonary hypoplasia, Hepatic fibrosis, Occipit...	OMIM:619879
Polymicrogyria With Optic Nerve Hypoplasia	Colpocephaly, Agenesis of corpus callosum, Dysplastic corpus callosum	ORPHA:250972
Peroxisome Biogenesis Disorder 6A (Zellweger)	Colpocephaly	OMIM:614870
Igg4-Related Retroperitoneal Fibrosis	Ureteropelvic junction obstruction, Increased blood urea nitrogen, Unilateral renal hypoplasia, H...	ORPHA:49041
Focal Cortical Dysplasia, Type Ii	Astrocytosis	OMIM:607341
Immunodeficiency 38 With Basal Ganglia Calcification	Lymphadenopathy	OMIM:616126
Diabetic Embryopathy	Hydronephrosis, Spinal dysraphism, Cryptorchidism, Abnormal morphology of female internal genital...	ORPHA:1926
Familial Infantile Bilateral Striatal Necrosis	Basal ganglia gliosis, Astrocytosis, Failure to thrive	ORPHA:225154
Central Neurocytoma	Abnormal lateral ventricle morphology, Hydrocephalus	ORPHA:73256
Alpha-Heavy Chain Disease	Premature ovarian insufficiency, Anemia, Malabsorption, Hepatomegaly, Abnormal small intestine mo...	ORPHA:100025
Meckel Syndrome, Type 11	Polycystic kidney dysplasia, Occipital encephalocele	OMIM:615397
Autoimmune Lymphoproliferative Syndrome, Type Iii	Hepatomegaly, Recurrent lower respiratory tract infections, Recurrent urinary tract infections, H...	OMIM:615559
Bardet-Biedl Syndrome 4	Abnormality of the kidney, Cryptorchidism, External genital hypoplasia, Hypogonadism, Renal cyst	OMIM:615982
Mosaic Trisomy 9	Asplenia, Ventricular septal defect, Horseshoe kidney, Atrial septal defect, Multiple renal cysts...	ORPHA:99776
Nphp3-Related Meckel-Like Syndrome	Abnormal liver parenchyma morphology, Pulmonary hypoplasia, Renal dysplasia, Abnormal biliary tra...	ORPHA:3032
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Median cleft palate, Recurrent respiratory infections, Hepatomegaly, Microphthalmia	ORPHA:2432
Hemochromatosis, Type 1	Hepatocellular carcinoma, Testicular atrophy, Pleural effusion, Diabetes mellitus, Cardiomyopathy...	OMIM:235200
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hepatosplenomegaly, Hemophagocytosis, Anemia, Colitis, Hypertriglyceridemia, Thrombocytopenia, Ly...	OMIM:613101
Biemond Syndrome Type 2	Delayed puberty, Hypogonadism, Hydrocephalus, Microphthalmia, Hypogonadotropic hypogonadism, Hypo...	ORPHA:141333
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease	Polycystic kidney dysplasia, Renal insufficiency, Mitral valve prolapse, Colonic diverticula, Hep...	OMIM:173900
Familial Papillary Or Follicular Thyroid Carcinoma	Goiter, Papillary renal cell carcinoma, Nodular goiter, Colon cancer, Papillary thyroid carcinoma...	ORPHA:319487
Meckel Syndrome 13	Polycystic kidney dysplasia, Occipital encephalocele	OMIM:617562
Congenital Disorder Of Glycosylation, Type Iig	Cryptorchidism, Left ventricular hypertrophy, Anemia, Giant platelets, Thrombocytopenia, Hypospadias	OMIM:611209
Multiple Acyl-Coa Dehydrogenase Deficiency	Polycystic kidney dysplasia, Renal cortical cysts, Jaundice, Glycosuria, Pulmonary hypoplasia, He...	OMIM:231680
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Thrombocytopenia, Increased mean platelet volume	OMIM:300048
Developmental And Epileptic Encephalopathy 36	Hydrocephalus	OMIM:300884
Bresek Syndrome	Decreased testicular size, Cryptorchidism, Hypoplasia of the bladder, Hydrocephalus, Aganglionic ...	ORPHA:85284
Microgastria-Limb Reduction Defect Syndrome	Crossed fused renal ectopia, Atrial septal defect, Horseshoe kidney, Hepatomegaly, Abnormality of...	ORPHA:2538
Unilateral Hemispheric Polymicrogyria	Lateral ventricle dilatation	ORPHA:101071
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Polycystic kidney dysplasia, Hydronephrosis, Parathyroid hypoplasia, Diabetes mellitus, Hypoparat...	ORPHA:2237
Martsolf Syndrome 2	Decreased body weight, Lateral ventricle dilatation	OMIM:619420
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome	Abnormal lateral ventricle morphology	ORPHA:488635
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Abnormality of the kidney, Liver abscess, Anemia, Abnormal lymph node morphology, Elevated circul...	ORPHA:54251
Fried Syndrome	Hydrocephalus	ORPHA:85335
Intellectual Developmental Disorder, X-Linked 103	Lateral ventricle dilatation	OMIM:300982
Branchiootorenal Syndrome 1	Polycystic kidney dysplasia, High palate, Abnormal renal collecting system morphology, Intestinal...	OMIM:113650
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Macrothrombocytopenia, Anisocytosis, Cryptorchidism, Hypochromic anemia, Anemia of inadequate pro...	ORPHA:67044
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Ventriculomegaly, Occipital encephalocele, Hydrocephalus	ORPHA:324416
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Proteinuria, Leukopenia, Chronic kidney disease, Anemia, Diabetes mellitus, Hyperuricemia, Increa...	OMIM:613845
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Respirat...	ORPHA:444463
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Hydrocephalus	OMIM:619470
Fanconi Anemia, Complementation Group O	Hydronephrosis, Anal atresia, Cryptorchidism, Stage 5 chronic kidney disease, External genital hy...	OMIM:613390
Gómez-López-Hernández Syndrome	Hydrocephalus	ORPHA:1532
Isolated Polycystic Liver Disease	Gastroesophageal reflux, Multiple renal cysts, Hepatomegaly, Increased total bilirubin, Gastroint...	ORPHA:2924
Trichohepatoenteric Syndrome 1	Pulmonic stenosis, Ventricular septal defect, Tetralogy of Fallot, Hypermethioninemia, Increased ...	OMIM:222470
Intellectual Developmental Disorder, Autosomal Recessive 68	Small for gestational age, Hydrocephalus	OMIM:618302
Omphalocele-Cleft Palate Syndrome, Lethal	Hydrocephalus	OMIM:258320
Congenital Fibrinogen Deficiency	Decreased testicular size, Micropenis, Left ventricular hypertrophy, Volvulus, Microphthalmia, Sp...	ORPHA:335
Laryngeal Neuroendocrine Tumor	Inappropriate antidiuretic hormone secretion, Elevated calcitonin, Elevated carcinoembryonic anti...	ORPHA:100083
Polycystic Kidney Disease 7	Renal interstitial fibrosis, Stage 5 chronic kidney disease, Renal insufficiency, Multiple renal ...	OMIM:620056
Mmep Syndrome	Cryptorchidism, Microphthalmia, Ventricular septal defect	ORPHA:3434
Triploidy	Macroglossia, Cryptorchidism, Ambiguous genitalia, Hydrocephalus, Meningocele, Abnormal cardiac s...	ORPHA:3376
Craniotelencephalic Dysplasia	Arrhinencephaly, Frontal encephalocele, Agenesis of corpus callosum, Hydrocephalus	ORPHA:1528
Immunodeficiency 75 With Lymphoproliferation	Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Recurrent respiratory ...	OMIM:619126
Peutz-Jeghers Syndrome	Multiple renal cysts, Rectal prolapse, Cervix cancer, Neoplasm of the rectum, Neoplasm of the lun...	ORPHA:2869
Mirage Syndrome	Recurrent urinary tract infections, Cryptorchidism, Leukopenia, Hydrocephalus, Esophageal strictu...	OMIM:617053
Autosomal Recessive Spastic Paraplegia Type 66	Colpocephaly	ORPHA:401815
Hepatoportal Sclerosis	Hepatocellular carcinoma, Abnormality of the hepatic vasculature, Jaundice, Leukopenia, Abnormal ...	ORPHA:64743
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Polycystic kidney dysplasia, Micropenis, Ambiguous genitalia, Ventricular septal defect, Atrial s...	OMIM:263520
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Cryptorchidism, Ventricular septal defect, Tetralogy of Fallot, Multiple renal cysts, Renal hypop...	ORPHA:1166
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Polycystic kidney dysplasia, Intestinal malrotation, Hydrocephalus, Ventriculomegaly, Hyperechoge...	OMIM:617866
Frontal Encephalocele	Encephalocele, Spina bifida, Hydrocephalus	ORPHA:1931
Reticuloendotheliosis, X-Linked	Hepatosplenomegaly, Jaundice, Lymphadenopathy, Anemia	OMIM:312500
Odontochondrodysplasia 1	Polycystic kidney dysplasia, Pulmonary hypoplasia, Nephronophthisis, Recurrent respiratory infect...	OMIM:184260
Craniofacial Dyssynostosis With Short Stature	Cryptorchidism, Pyloric stenosis, Hydrocephalus, Horseshoe kidney, Ventricular septal defect, Ven...	OMIM:218350
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7	Astrocytosis	OMIM:600795
Pyruvate Dehydrogenase E1-Alpha Deficiency	Small for gestational age, Partial agenesis of the corpus callosum, Abnormal CSF pyruvate family ...	ORPHA:79243
Cholestasis, Progressive Familial Intrahepatic, 12	Proteinuria, Jaundice, Cholestasis, Hepatomegaly, Conjugated hyperbilirubinemia, Hyperbilirubinem...	OMIM:620010
Short Rib-Polydactyly Syndrome	Situs inversus totalis, Polycystic kidney dysplasia, Abnormality of the kidney, Multiple glomerul...	ORPHA:1505
Mckusick-Kaufman Syndrome	Polycystic kidney dysplasia, Hydronephrosis, Cryptorchidism, Anal atresia, Hydrometrocolpos, Hydr...	OMIM:236700
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius	Holoprosencephaly, Aqueductal stenosis, Agenesis of corpus callosum, Hydrocephalus	ORPHA:2182
Microcephaly-Microcornea Syndrome, Seemanova Type	High palate, Microphthalmia, Hypogonadism	ORPHA:2528
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Hyperammonemia, Hypervalinemia, Increased blood urea nitrogen, Hyperleucinemia, Hyperisoleucinemia	OMIM:620085
Drug-Induced Lupus Erythematosus	Anemia, Elevated circulating creatine kinase concentration, Increased blood urea nitrogen, Thromb...	ORPHA:231111
Kerion Celsi	Lymphadenopathy	ORPHA:499
Acalvaria	Spina bifida, Holoprosencephaly, Hydrocephalus	ORPHA:945
H Syndrome	Hepatosplenomegaly, Delayed puberty, Decreased testicular size, Abnormality of the kidney, Microp...	ORPHA:168569
Distal Deletion 12Q	Polycystic kidney dysplasia, Hydronephrosis, Esophageal atresia, Micropenis, Pyloric stenosis, Du...	ORPHA:96149
Pontocerebellar Hypoplasia, Type 12	Lateral ventricle dilatation	OMIM:618266
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Decreased proportion of class-switched memory B cells, Recurrent respiratory infections, Glomerul...	OMIM:619375
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Aplasia/Hypoplasia of the lungs, Anemia, Abnormality of the ureter, Renal hypoplasia/aplasia, Hyp...	ORPHA:1046
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Polycystic kidney dysplasia, Micropenis, Hydrocephalus, Atrial septal defect, Pulmonary hypoplasi...	OMIM:616546
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Agenesis of corpus callosum, Hydrocephalus, Ventriculomegaly	OMIM:618577
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Polycystic kidney dysplasia, Anal atresia, Micropenis, Ambiguous genitalia, Enlarged kidney, Clef...	OMIM:613091
Behavioral Variant Of Frontotemporal Dementia	Astrocytosis	ORPHA:275864
Inherited Creutzfeldt-Jakob Disease	Astrocytosis, Increased CSF protein concentration	ORPHA:282166
Alexander Disease Type I	Cachexia, Failure to thrive, Hydrocephalus	ORPHA:363717
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia	OMIM:616335
Hydrocephalus-Obesity-Hypogonadism Syndrome	Obesity, Azoospermia, Hydrocephalus	ORPHA:2183
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Occipital encephalocele, Hydrocephalus	ORPHA:352682
Immunodeficiency 76	Colitis, Lymphopenia, Recurrent pneumonia, Lymphadenopathy, B lymphocytopenia, Recurrent bronchio...	OMIM:619164
Hydrocephalus, Congenital, X-Linked	Aqueductal stenosis, Agenesis of corpus callosum, Hydrocephalus	OMIM:307000
Xk Aprosencephaly Syndrome	Anal atresia, Atrial septal defect, Ventricular septal defect, Microphthalmia, Abnormal external ...	ORPHA:3469
Hemochromatosis, Type 2B	Elevated transferrin saturation, Hypogonadism, Anemia, Cardiomyopathy, Hepatic fibrosis, Hepatome...	OMIM:613313
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Ogden Syndrome	Polycystic kidney dysplasia, Maternal diabetes, Secundum atrial septal defect, Polycythemia, Enla...	OMIM:300855
Primary Ciliary Dyskinesia	Situs inversus totalis, Recurrent sinopulmonary infections, Atrial situs ambiguous, Asplenia, Ate...	ORPHA:244
Microphthalmia, Isolated, With Cataract 1	Microphthalmia	OMIM:156850
Alexander Disease	Increased CSF protein concentration, Hydrocephalus	OMIM:203450
Tuberous Sclerosis Complex	Polycystic kidney dysplasia, Abnormality of the kidney, Renal cell carcinoma, Stage 5 chronic kid...	ORPHA:805
Arima Syndrome	Polycystic kidney dysplasia, Proteinuria, Renal tubular atrophy, Stage 5 chronic kidney disease, ...	OMIM:243910
Cerebrooculofacioskeletal Syndrome 3	Ventriculomegaly, Microphthalmia, Cleft palate	OMIM:616570
Hypotonia, Infantile, With Psychomotor Retardation	Lateral ventricle dilatation	OMIM:616816
Bronchogenic Cyst	Abnormality of the peritoneum, Atelectasis, Abnormal pleura morphology, Dysphagia, Bronchogenic c...	ORPHA:2357
Griscelli Syndrome	Encephalocele, Jaundice, Abnormal circulating lipid concentration, Leukopenia, Pyloric stenosis, ...	ORPHA:381
Papillary Tumor Of The Pineal Region	Increased CSF protein concentration, Hydrocephalus	ORPHA:251915
Gracile Bone Dysplasia	Hypoplastic spleen, Micropenis, Asplenia, Hydrocephalus, Ankyloglossia, Microphthalmia, Aniridia,...	OMIM:602361
Greig Cephalopolysyndactyly Syndrome	Agenesis of corpus callosum, Hydrocephalus	ORPHA:380
Serrated Polyposis Syndrome	Prostate cancer, Biliary tract neoplasm, Colorectal polyposis, Pancreatic adenocarcinoma, Adenoma...	ORPHA:157798
Microphthalmia, Isolated 4	Absent testis, Microphthalmia	OMIM:613094
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Hydronephrosis, Cryptorchidism, Gastroesophageal reflux, Anteriorly placed anus, Ventricular sept...	OMIM:618494
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Recurrent respiratory infections, Decreased CD4:CD8 ratio, Mediastinal lymphadenopathy, Autoimmun...	OMIM:300853
Microphthalmia, Syndromic 9	Ventricular septal defect, Horseshoe kidney, Multilobulated spleen, Atrial septal defect, Tetralo...	OMIM:601186
Genitopalatocardiac Syndrome	Ventricular septal defect, Renal cyst, Cleft palate, Double outlet right ventricle, Transposition...	OMIM:231060
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Esophageal atresia, Cryptorchidism, Hydrocephalus, Ventricular septal defect, Holoprosencephaly, ...	ORPHA:77298
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy	Lateral ventricle dilatation	OMIM:619972
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatosplenomegaly, Hydronephrosis, Abnormal renal morphology, Cryptorchidism, High palate, Micro...	ORPHA:1655
Fanconi Anemia, Complementation Group B	Esophageal atresia, Abnormal lung lobation, Micropenis, Hypogonadism, Duodenal atresia, Optic dis...	OMIM:300514
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Polycystic liver disease, Increased total bilirubin, Ascites, Renal cyst	OMIM:174050
Ritscher-Schinzel Syndrome 1	Hydronephrosis, Adrenal hypoplasia, Anal atresia, Hypoplastic left heart, Pulmonic stenosis, Hydr...	OMIM:220210
Cholestasis, Progressive Familial Intrahepatic, 10	Jaundice, Hypercholesterolemia, Hepatomegaly, Conjugated hyperbilirubinemia, Increased total bili...	OMIM:619868
Immunodeficiency 91 And Hyperinflammation	Hepatosplenomegaly, Pulmonary hemorrhage, Hemophagocytosis, Hemolytic-uremic syndrome, Pleural ef...	OMIM:619644
Aicardi-Goutieres Syndrome 4	Hepatosplenomegaly, Hydrocephalus, Hepatomegaly, Ventriculomegaly, CSF lymphocytic pleiocytosis, ...	OMIM:610333
Vacterl/Vater Association	Aplasia/Hypoplasia of the lungs, Abnormal morphology of female internal genitalia, Ambiguous geni...	ORPHA:887
Congenital Disorder Of Glycosylation, Type Iil	Inflammation of the large intestine, Hydrocephalus, Cholestasis, Ventricular septal defect, Atria...	OMIM:614576
Trisomy 13	Hydronephrosis, Cryptorchidism, Abnormal morphology of female internal genitalia, Ventricular sep...	ORPHA:3378
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Polycystic kidney dysplasia, Stage 5 chronic kidney disease, Decreased glomerular filtration rate...	OMIM:618061
Lathosterolosis	Hepatosplenomegaly, Anisopoikilocytosis, Ambiguous genitalia, male, Acanthocytosis, Hyperbilirubi...	OMIM:607330
Neural Tube Defects, Susceptibility To	Myelomeningocele, Anencephaly, Spina bifida occulta, Hydrocephalus	OMIM:182940
Meckel Syndrome, Type 4	Encephalocele, Renal cyst, Hydrocephalus, Meningocele, Bile duct proliferation, Ventricular septa...	OMIM:611134
Granulomatous Slack Skin	Abnormal lymph node morphology, Acute kidney injury, Nephrocalcinosis, Hypercalcemia	ORPHA:33111
Distal 7Q11.23 Microduplication Syndrome	Frontal encephalocele, Hydrocephalus	ORPHA:261102
Cockayne Syndrome Type 1	Proteinuria, Cryptorchidism, Anemia, Renal insufficiency, Hepatomegaly, Increased blood urea nitr...	ORPHA:90321
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Decreased proportion of class-switched memory B cells, Recurrent respiratory infections, Recurren...	OMIM:615513
Hemochromatosis, Type 2A	Cardiomyopathy, Hepatomegaly, Cirrhosis, Splenomegaly, Infertility, Azoospermia, Increased serum ...	OMIM:602390
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hepatosplenomegaly, Recurrent tonsillitis, Hemolytic anemia, Anal fissure, Impaired oxidative bur...	OMIM:618935
Emanuel Syndrome	Recurrent urinary tract infections, Recurrent respiratory infections, Anal atresia, Cryptorchidis...	OMIM:609029
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Agenesis of corpus callosum, Dandy-Walker malformation, Hydrocephalus, Ventriculomegaly	OMIM:613153
Orofaciodigital Syndrome I	Polycystic kidney dysplasia, Proteinuria, High palate, Hydrocephalus, Myelomeningocele, Ankyloglo...	OMIM:311200
Intellectual Developmental Disorder, Autosomal Dominant 39	Obesity, Hydrocephalus	OMIM:616521
3C Syndrome	Hypoplastic left heart, Ventricular septal defect, Atrial septal defect, Tetralogy of Fallot, Atr...	ORPHA:7
Hemiparkinsonism-Hemiatrophy Syndrome	Lateral ventricle dilatation	ORPHA:306669
Hemophagocytic Lymphohistiocytosis, Familial, 4	Jaundice, Hemophagocytosis, Anemia, Hepatomegaly, Hypertriglyceridemia, Thrombocytopenia, Lymphad...	OMIM:603552
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Proteinuria, Acute kidney injury, Stage 5 chronic kidney disease, Microangiopathic hemolytic anem...	OMIM:612925
Bleeding Disorder, Platelet-Type, 19	Macrothrombocytopenia, Menorrhagia, Thrombocytopenia, Anemia	OMIM:616176
Renal Hypodysplasia/Aplasia 3	Hydronephrosis, Horseshoe kidney, Renal dysplasia, Abnormality of the uterus, Vesicoureteral refl...	OMIM:617805
Immunodeficiency 52	Autoimmune thrombocytopenia, Increased proportion of gamma-delta T cells, Lymphopenia, Recurrent ...	OMIM:617514
Cat-Eye Syndrome	Hydronephrosis, Anal atresia, Renal hypoplasia/aplasia, Microphthalmia, Abnormal localization of ...	ORPHA:195
Trisomy 1Q	Hydronephrosis, Anal atresia, Cryptorchidism, Ambiguous genitalia, Hydrocephalus, Ventricular sep...	ORPHA:261344
Hydrocephalus, Congenital, 4	Communicating hydrocephalus, Ventriculomegaly	OMIM:618667
Fryns Syndrome	Hydronephrosis, Anal atresia, Cryptorchidism, High palate, Gastroesophageal reflux, Duodenal atre...	ORPHA:2059
Marden-Walker Syndrome	High palate, Cryptorchidism, Dextrocardia, Micropenis, Pyloric stenosis, Pulmonary hypoplasia, Mi...	OMIM:248700
Mu-Heavy Chain Disease	Abnormal B cell count, Bence Jones Proteinuria, Anemia, Hepatomegaly, Nephropathy, Lymphadenopath...	ORPHA:100024
Hereditary Renal Hypouricemia	Acute kidney injury, Abnormal renal physiology, Chronic kidney disease, Decreased glomerular filt...	ORPHA:94088
Hajdu-Cheney Syndrome	Polycystic kidney dysplasia, High palate, Cryptorchidism, Renal cyst, Hydrocephalus, Ventricular ...	OMIM:102500
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia	Macrothrombocytopenia, Impaired platelet aggregation, Thrombocytopenia, Menorrhagia	OMIM:124900
Phelan-Mcdermid Syndrome	Polycystic kidney dysplasia, High palate, Abnormality of the kidney, Gastroesophageal reflux, Ven...	OMIM:606232
Desmoplastic Small Round Cell Tumor	Abnormality of the peritoneum, Ileus, Mediastinal lymphadenopathy, Anemia, Neoplasm of the pancre...	ORPHA:83469
Microcephaly, Epilepsy, And Diabetes Syndrome 2	Small for gestational age, Lateral ventricle dilatation	OMIM:619278
Congenital Rubella Syndrome	Jaundice, Anemia, Ventricular septal defect, Atrial septal defect, Hepatomegaly, Microphthalmia, ...	ORPHA:290
Immunodeficiency With Hyper-Igm, Type 5	Lymphadenopathy, Epididymitis, Recurrent upper and lower respiratory tract infections	OMIM:608106
Isolated Follicle Stimulating Hormone Deficiency	Oligomenorrhea, Delayed puberty, Abnormal sperm morphology, Decreased testicular size, Testicular...	ORPHA:52901
Congenital Disorder Of Glycosylation, Type Ib	Renal cyst, Steatorrhea, Villous atrophy, Protein-losing enteropathy, Hepatomegaly, Lymphangiecta...	OMIM:602579
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Hydroureter, Abnormality of the bladder, Hypoplasia of penis, Microphthalmia, Duodenal stenosis, ...	ORPHA:2547
Leukoencephalopathy, Progressive, With Ovarian Failure	Lateral ventricle dilatation	OMIM:615889
Oculocerebrocutaneous Syndrome	Cryptorchidism, Orbital encephalocele, Dandy-Walker malformation, Microphthalmia, Cleft palate, A...	OMIM:164180
Meckel Syndrome, Type 10	Micropenis, Bifid uvula, Renal cyst, Occipital encephalocele, Dandy-Walker malformation, Cleft pa...	OMIM:614175
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Proteinuria, Acute kidney injury, Microangiopathic hemolytic anemia, Hemolytic-uremic syndrome, A...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Proteinuria, Acute kidney injury, Microangiopathic hemolytic anemia, Hemolytic-uremic syndrome, A...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Proteinuria, Acute kidney injury, Microangiopathic hemolytic anemia, Hemolytic-uremic syndrome, A...	OMIM:612926
Ventriculomegaly With Defects Of The Radius And Kidney	Ventriculomegaly, Lateral ventricle dilatation, Hydrocephalus	OMIM:602200
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Generalized lymphadenopathy, Absent tonsils, Hepatomegaly, Lymphopenia, Splenomegaly, Eosinophili...	OMIM:602450
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Macroorchidism, Cardiomegaly, Hydrocephalus	OMIM:300886
Joubert Syndrome 37	Hydronephrosis, Decreased testicular size, Cryptorchidism, High palate, Micropenis, Hepatomegaly,...	OMIM:619185
Bernard-Soulier Syndrome	Macrothrombocytopenia, Decreased platelet glycoprotein Ib-IX-V, Impaired ristocetin-induced plate...	ORPHA:274
Coach Syndrome 1	Encephalocele, Stage 5 chronic kidney disease, Abnormal abdomen morphology, Renal cyst, Unilatera...	OMIM:216360
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Neutropenia in presence of anti-neutropil antibodies, Autoimmune thrombocytopenia, Autoimmune hem...	OMIM:619220
Meckel Syndrome	Situs inversus totalis, Ambiguous genitalia, Asplenia, Urethral atresia, Cleft palate, True herma...	ORPHA:564
Pseudotrisomy 13 Syndrome	Encephalocele, Adrenal hypoplasia, Cryptorchidism, Anal atresia, Micropenis, Tricuspid atresia, M...	OMIM:264480
Pfapa Syndrome	Malabsorption, Hepatomegaly, Lymphadenopathy, Recurrent pharyngitis, Splenomegaly	ORPHA:42642
Pleural Mesothelioma	Abnormal pleura morphology, Hepatomegaly, Dysphagia, Lymphadenopathy, Pleural effusion, Abnormal ...	ORPHA:50251
Pierpont Syndrome	Cryptorchidism, Microphthalmia, Ventriculomegaly	ORPHA:487825
Melanosis, Neurocutaneous	Dandy-Walker malformation, Choroid plexus papilloma, Hydrocephalus	OMIM:249400
Hypogonadism, Male	Male hypogonadism, Testicular atrophy, Micropenis, Hypospadias	OMIM:241100
Coach Syndrome 2	Agenesis of corpus callosum, Hydrocephalus	OMIM:619111
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Proteinuria, Acute kidney injury, Microangiopathic hemolytic anemia, Hemolytic-uremic syndrome, A...	OMIM:612924
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Dilated fourth ventricle, Lateral ventricle dilatation, Ventriculomegaly	OMIM:613443
Tetraamelia-Multiple Malformations Syndrome	Anal atresia, Cryptorchidism, Aplasia/Hypoplasia of the lungs, Hydrocephalus, Septo-optic dysplas...	ORPHA:3301
Warburg Micro Syndrome 1	Enlarged sylvian cistern, Cryptorchidism, Microphthalmia, External genital hypoplasia	OMIM:600118
Genitopalatocardiac Syndrome	Cryptorchidism, Hydrocephalus, Abnormality of mesentery morphology, Cleft palate, Abnormality of ...	ORPHA:2075
Paternal Uniparental Disomy Of Chromosome 1	Episodic hemolytic anemia, Delayed puberty, Proteinuria, Enlarged kidney, Macroscopic hematuria, ...	ORPHA:251004
Meckel Syndrome, Type 2	Encephalocele, Renal cyst, Meningocele, Bile duct proliferation, Microphthalmia, Cleft palate, An...	OMIM:603194
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Hydrocephalus, Ventriculomegaly	OMIM:602501
Fanconi Anemia, Complementation Group F	Cryptorchidism, Vesicoureteral reflux, Leukopenia, Duodenal atresia, Microphallus, Anemia, Atrial...	OMIM:603467
Cortical Dysplasia, Complex, With Other Brain Malformations 9	Hydrocephalus	OMIM:618174
Temple Syndrome	Obesity, Small for gestational age, Hydrocephalus	ORPHA:254516
Greig Cephalopolysyndactyly Syndrome	Agenesis of corpus callosum, Hydrocephalus, Ventriculomegaly	OMIM:175700
Lissencephaly 5	Occipital encephalocele, Hydrocephalus	OMIM:615191
Immunodeficiency 97 With Autoinflammation	Recurrent sinopulmonary infections, Hemophagocytosis, Colitis, Recurrent urinary tract infections...	OMIM:619802
Symptomatic Form Of Hfe-Related Hemochromatosis	Hepatocellular carcinoma, Elevated transferrin saturation, Testicular atrophy, Diabetes mellitus,...	ORPHA:465508
Hardikar Syndrome	Ventricular septal defect, Cholestasis, Hydroureter, Atrial septal defect, Hepatomegaly, Prolonge...	OMIM:301068
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Total anomalous pulmonary venous return, Abnormal heart morphology, Abnormality of the endocrine ...	ORPHA:487796
Krabbe Disease	Increased CSF protein concentration, Failure to thrive, Hydrocephalus	OMIM:245200
Pallister-Hall-Like Syndrome	Glioma, Hypothalamic hamartoma, Occipital encephalocele, Hydrocephalus	OMIM:241800
Pierpont Syndrome	Cryptorchidism, Micropenis, Microphthalmia	OMIM:602342
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Hydrocephalus	ORPHA:83473
Emanuel Syndrome	Bifid uvula, Ventricular septal defect, Atrial septal defect, Cleft palate, Ventriculomegaly, Tru...	ORPHA:96170
Developmental And Epileptic Encephalopathy 1	Dysphagia, Micropenis, Microphthalmia, Ventriculomegaly	OMIM:308350
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Chronic kidney disease, Hydrocephalus, Cholestasis, Ventricular septal defect, Hepatic fibrosis, ...	OMIM:615630
Pentalogy Of Cantrell	Encephalocele, Hydrocephalus, Ventricular septal defect, Atrial septal defect, Tetralogy of Fallo...	ORPHA:1335
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Hepatomegaly, Lymphopenia, Recurrent lo...	OMIM:616100
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Cryptorchidism, Micropenis, Hydrocephalus, Renal agenesis, Renal hypoplasia, Hypospadias	ORPHA:171839
Oculogastrointestinal Neurodevelopmental Syndrome	Anal atresia, Vaginal fistula, Bilateral microphthalmos, Horseshoe kidney, Unilateral microphthal...	OMIM:619318
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis	Hydrocephalus	ORPHA:1516
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Agenesis of corpus callosum, Hydrocephalus	OMIM:617542
Crouzon Syndrome With Acanthosis Nigricans	Hydrocephalus	OMIM:612247
Immunodeficiency 64 With Lymphoproliferation	Hepatosplenomegaly, Cervical lymphadenopathy, Autoimmune thrombocytopenia, Increased proportion a...	OMIM:618534
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Obesity, Hydrocephalus	OMIM:601794
Temple Syndrome	Decreased testicular size, Cryptorchidism, High palate, Bifid uvula, Hydrocephalus, Cleft palate,...	OMIM:616222
Holoprosencephaly-Postaxial Polydactyly Syndrome	Encephalocele, Adrenal hypoplasia, Cryptorchidism, Anal atresia, Intestinal malrotation, Ambiguou...	ORPHA:2166
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity	Hydrocephalus	OMIM:615599
Immunodeficiency 27A	Hepatosplenomegaly, Leukocytosis, Anemia, Histiocytosis, Lymphadenopathy, Pneumonia, Thrombocytos...	OMIM:209950
Meckel Syndrome, Type 6	Renal cyst, Horseshoe kidney, Hydrocephalus, Bile duct proliferation, Hepatic fibrosis, Abnormal ...	OMIM:612284
Purine Nucleoside Phosphorylase Deficiency	Recurrent urinary tract infections, Neutropenia in presence of anti-neutropil antibodies, Increas...	OMIM:613179
Thrombotic Thrombocytopenic Purpura, Hereditary	Microscopic hematuria, Proteinuria, Abnormal renal physiology, Reticulocytosis, Microangiopathic ...	OMIM:274150
Pontocerebellar Hypoplasia, Type 1A	Basal ganglia gliosis, Lateral ventricle dilatation	OMIM:607596
Renal Tubular Dysgenesis	Renotubular dysgenesis, Tetralogy of Fallot, Pulmonary hypoplasia, Multiple renal cysts, Nephropa...	ORPHA:3033
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease	Polycystic kidney dysplasia, Hepatic cysts	OMIM:600666
Immunodeficiency, Common Variable, 2	Hepatomegaly, Follicular hyperplasia, Recurrent pneumonia, Lymphadenopathy, Bronchiectasis, Recur...	OMIM:240500
Cholestasis-Lymphedema Syndrome	Jaundice, Malabsorption, Neonatal cholestatic liver disease, Hepatomegaly, Cirrhosis, Conjugated ...	OMIM:214900
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Hydrocephalus	ORPHA:397951
Heme Oxygenase 1 Deficiency	Proteinuria, Cervical lymphadenopathy, Asplenia, Hemolytic anemia, Diffuse alveolar hemorrhage, H...	OMIM:614034
Fanconi Anemia, Complementation Group I	Abnormal renal morphology, Colpocephaly, Ventricular septal defect, Horseshoe kidney, Atrial sept...	OMIM:609053
Harderoporphyria	Reticulocytosis, Red urine, Hemolytic anemia, Increased urinary porphobilinogen, Increased urine ...	OMIM:618892
Lymphangioleiomyomatosis	Abnormal urinary color, Recurrent respiratory infections, Renal neoplasm, Abnormal morphology of ...	ORPHA:538
Fanconi Anemia, Complementation Group D2	Renal duplication, Horseshoe kidney, Reticulocytopenia, Abnormal heart morphology, Pelvic kidney,...	OMIM:227646
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Agenesis of corpus callosum, Hydrocephalus, Ventriculomegaly	OMIM:109120
Congenital Muscular Dystrophy, Fukuyama Type	Hydrocephalus, Ventriculomegaly	ORPHA:272
Meckel Syndrome, Type 9	Multicystic kidney dysplasia, Occipital encephalocele, Ambiguous genitalia	OMIM:614209
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hydronephrosis, High palate, Cryptorchidism, Hypoproteinemia, Micropenis, Pulmonary lymphangiecta...	OMIM:235255
Williams-Beuren Region Duplication Syndrome	Hydronephrosis, High palate, Cryptorchidism, Hydrocephalus, Unilateral renal agenesis, Decreased ...	OMIM:609757
Lymphoproliferative Syndrome, X-Linked, 2	Recurrent respiratory infections, Inflammation of the large intestine, Aplastic anemia, Hemophago...	OMIM:300635
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities	Lateral ventricle dilatation	OMIM:617668
Combined Immunodeficiency Due To Zap70 Deficiency	Hepatosplenomegaly, Autoimmune thrombocytopenia, Recurrent infection of the gastrointestinal trac...	ORPHA:911
Nephronophthisis 20	Stage 5 chronic kidney disease, Renal cyst, Renal insufficiency, Nephronophthisis, Vesicoureteral...	OMIM:617271
Rere-Related Neurodevelopmental Syndrome	Cryptorchidism, Gastroesophageal reflux, Ventricular septal defect, Microphthalmia, Ventriculomeg...	ORPHA:494344
Pallister-Hall Syndrome	Ventricular septal defect, Hydroureter, Cleft palate, Microglossia, Hydronephrosis, Cryptorchidis...	OMIM:146510
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity	Lateral ventricle dilatation	OMIM:618890
6P22 Microdeletion Syndrome	Hydrocephalus	ORPHA:251046
Global Developmental Delay With Or Without Impaired Intellectual Development	Lateral ventricle dilatation	OMIM:618330
Cofs Syndrome	Microphthalmia, Hypogonadism	ORPHA:1466
Follicular Lymphoma	Abnormality of the peritoneum, Lymphadenopathy, Mediastinal lymphadenopathy, Pleural effusion, Sp...	ORPHA:545
Chiari Malformation Type Ii	Cervical myelopathy, Myelomeningocele, Spina bifida, Hydrocephalus, Agenesis of corpus callosum	OMIM:207950
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Spina bifida occulta, Dandy-Walker malformation, Lateral ventricle dilatation, Agenesis of corpus...	OMIM:618736
Kennedy Disease	Abnormal circulating lipid concentration, Testicular atrophy, Decreased fertility, Erectile dysfu...	ORPHA:481
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Dandy-Walker malformation, Hydrocephalus, Ventriculomegaly	ORPHA:163961
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Polycystic kidney dysplasia, Colpocephaly, Cryptorchidism, Gastroesophageal reflux, Micropenis, R...	OMIM:210710
Indomethacin Embryofetopathy	Ventricular septal defect, Atrial septal defect, Renal insufficiency, Cardiomyopathy, Nephropathy...	ORPHA:1909
Nasu-Hakola Disease	Hydrocephalus, Ventriculomegaly	ORPHA:2770
Alg2-Cdg	Lateral ventricle dilatation	ORPHA:79326
Acrorenal-Mandibular Syndrome	Polycystic kidney dysplasia, High palate, Abnormality of the ureter, Pulmonary hypoplasia, Narrow...	OMIM:200980
Lig4 Syndrome	Cryptorchidism, Leukocytosis, Acute leukemia, Malabsorption, Hepatomegaly, Hypoplasia of penis, T...	ORPHA:99812
Dandy-Walker Malformation With Postaxial Polydactyly	Dandy-Walker malformation, Dilated fourth ventricle, Hydrocephalus	OMIM:220220
Immunodeficiency With Hyper-Igm, Type 2	Recurrent respiratory infections, Recurrent infection of the gastrointestinal tract, Lymphadenopa...	OMIM:605258
Fryns Syndrome	Ventricular septal defect, Atrial septal defect, Polysplenia, Cleft palate, Hydronephrosis, Esoph...	OMIM:229850
Congenital Bile Acid Synthesis Defect Type 2	Jaundice, Extramedullary hematopoiesis, Renal cyst, Cholestasis, Steatorrhea, Hepatomegaly, Prolo...	ORPHA:79303
Roberts Syndrome	Polycystic kidney dysplasia, High palate, Cryptorchidism, Clitoral hypertrophy, Microphthalmia, C...	ORPHA:3103
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Gliosis, Lateral ventricle dilatation	OMIM:221770
Orthostatic Hypotension 1	High palate, Increased blood urea nitrogen, Nocturia, Reduced circulating prolactin concentration...	OMIM:223360
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Cryptorchidism, Pulmonic stenosis, Hydrocephalus, Hypertrophic cardiomyopathy, Webbed neck	ORPHA:2701
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Hydranencephaly, Hydrocephalus, Dandy-Walker malformation, Ventriculomegaly, Agenesis of corpus c...	OMIM:225790
Dworschak-Punetha Neurodevelopmental Syndrome	Colpocephaly, Agenesis of corpus callosum, Dysplastic corpus callosum	OMIM:619955
Encephalocraniocutaneous Lipomatosis	Hydronephrosis, Cryptorchidism, Hydrocephalus, Ventricular septal defect, Atrial septal defect, S...	OMIM:613001
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Lymphadenopathy, Hepatomegaly, Splenomegaly	ORPHA:86893
Thomas Syndrome	Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Hypoplastic left heart, Cleft palate	ORPHA:3316
Microphthalmia-Brain Atrophy Syndrome	Lateral ventricle dilatation	ORPHA:77299
Intellectual Developmental Disorder, Autosomal Dominant 36	Agenesis of corpus callosum, Hydrocephalus, Ventriculomegaly	OMIM:616362
Kimura Disease	Follicular hyperplasia, Lymphadenopathy, Eosinophilia, Abnormal salivary gland morphology	ORPHA:482
Renal Dysplasia, Cystic, Susceptibility To	Renal insufficiency, Renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Cystic renal...	OMIM:601331
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Macroglossia, Hydrocephalus, Cardiomyopathy, Elevated circulating creatine kinase concentration, ...	OMIM:613155
Cat Eye Syndrome	Rectal fistula, Hypoplastic left heart, Ventricular septal defect, Horseshoe kidney, Atrial septa...	OMIM:115470
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Decreased fertility, Testicular atrophy, Elevated circulating creatine kinase concentration	OMIM:313200
Rhyns Syndrome	Hypopituitarism, Multicystic kidney dysplasia, Nephronophthisis, Abnormality of the liver	ORPHA:140976
Floating-Harbor Syndrome	Polycystic kidney dysplasia, Hydronephrosis, Dilatation of the renal pelvis, Cryptorchidism, Neph...	ORPHA:2044
Heterotaxy, Visceral, 1, X-Linked	Hypoplastic left heart, Enlarged kidney, Atrial septal defect, Horseshoe kidney, Asplenia, Ventri...	OMIM:306955
Ornithine Transcarbamylase Deficiency	Hyperammonemia, Pyloric stenosis, Aminoaciduria, Splenomegaly	ORPHA:664
Renal-Hepatic-Pancreatic Dysplasia 2	Situs inversus totalis, Asplenia, Enlarged kidney, Cholestasis, Pulmonic stenosis, Pulmonary hypo...	OMIM:615415
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Acute kidney injury, Reticulocytosis, Microangiopathic hemolytic anemia, Hemolytic-uremic syndrom...	OMIM:235400
Meckel Syndrome, Type 3	Hydrocephalus, Bile duct proliferation, Hepatic fibrosis, Hepatomegaly, Occipital encephalocele, ...	OMIM:607361
Immunodeficiency, Common Variable, 1	Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of class-switched memo...	OMIM:607594
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hypoproteinemia, Jaundice, Increased LDL cholesterol concentration, Leukopenia, Hemophagocytosis,...	OMIM:267700
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Colpocephaly, Agenesis of corpus callosum, Hydrocephalus, Ventriculomegaly	OMIM:620156
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency	Delayed puberty, Cholestasis, Cardiomyopathy, Hepatomegaly, Elevated circulating creatine kinase ...	ORPHA:370
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies	Colpocephaly	OMIM:618731
Systemic Sclerosis	Myocarditis, Abnormality of the kidney, Albuminuria, Elevated circulating creatine kinase concent...	ORPHA:90291
Chromosome 13Q33-Q34 Deletion Syndrome	Encephalocele, Anal atresia, Cryptorchidism, High palate, Anteriorly placed anus, Pyloric stenosi...	OMIM:619148
Kleefstra Syndrome	Macroglossia, Hydronephrosis, Recurrent respiratory infections, Cryptorchidism, Gastroesophageal ...	ORPHA:261494
Legionnaires Disease	Myocarditis, Proteinuria, Jaundice, Endocarditis, Pancreatitis, Renal insufficiency, Bone marrow ...	ORPHA:549
Joubert Syndrome 18	Renal cyst, Horseshoe kidney, Ventricular septal defect, Occipital encephalocele, Cleft palate, L...	OMIM:614815
Short-Rib Thoracic Dysplasia 12	Ambiguous genitalia, Median cleft lip and palate, Hydrocephalus, Hypoplastic nipples, Ventricular...	OMIM:269860
Pagod Syndrome	Encephalocele, Situs inversus totalis, Abnormal morphology of female internal genitalia, Ambiguou...	ORPHA:991
X-Linked Parkinsonism-Spasticity Syndrome	Dilated third ventricle, Lateral ventricle dilatation	ORPHA:363654
Immunodeficiency 54	Recurrent respiratory infections, Hepatomegaly, Reduced natural killer cell count, Adrenal insuff...	OMIM:609981
Smith-Lemli-Opitz Syndrome	Ambiguous genitalia, Bifid uvula, Ventricular septal defect, Elevated 7-dehydrocholesterol, Urete...	OMIM:270400
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Hyperuricemia, Chronic kidney disease, Anemia, Renal cyst, Nephropathy, Elevated circulating crea...	OMIM:617056
Mixed Connective Tissue Disease	Myocarditis, Pleuritis, Gastroesophageal reflux, Leukopenia, Hemolytic anemia, Xerostomia, Nephro...	ORPHA:809
Kaposiform Lymphangiomatosis	Hepatosplenomegaly, Pleural effusion, Enlarged kidney, Abnormal spleen morphology, Anemia, Metror...	ORPHA:464329
Czeizel-Losonci Syndrome	Hydronephrosis, High palate, Dextrocardia, Hydrocephalus, Spina bifida, Hypoplastic nipples, Myel...	ORPHA:2437
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Malabsorption, Colitis, Gastritis, Hypothyroidism, Hypomagnesemia, Abnormal blood ion concentrati...	ORPHA:37042
Paroxysmal Nocturnal Hemoglobinuria	Reduced haptoglobin level, Hemolytic anemia, Increased blood urea nitrogen, Proteinuria, Reticulo...	ORPHA:447
Whipple Disease	Myocarditis, Pleuritis, Anemia, Malabsorption, Hydrocephalus, Hepatomegaly, Hyponatremia, Erectil...	ORPHA:3452
Neurooculocardiogenitourinary Syndrome	Atrial septal defect, Ventricular septal defect, Microphthalmia, Bilateral cryptorchidism, Patent...	OMIM:618652
Hyperbilirubinemia, Shunt, Primary	Jaundice, Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Hyperbilirubinemia, Ery...	OMIM:237800
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Decreased testicular size, Cryptorchidism, Testicular atrophy, Micropenis, High palate, Unilatera...	OMIM:308700
Fanconi Anemia, Complementation Group R

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Gene: Pdcd6ip MGI:1333753

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lacZ Expression

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Human diseases caused by Pdcd6ip mutations