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Gene: Pdcd6ip MGI:1333753

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Gene Summary

Name:
programmed cell death 6 interacting protein
Synonyms:
Alix,  AIP1

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
enlarged lymph nodes Pdcd6ipem1(IMPC)Hmgu HOM Late adult 0.00
abnormal brain morphology Pdcd6ipem1(IMPC)Mbp HOM Late adult 0.00
small testis Pdcd6ipem1(IMPC)Mbp HOM Late adult 0.00
enlarged lymph nodes Pdcd6ipem1(IMPC)Mbp HOM Late adult 0.00
increased blood urea nitrogen level Pdcd6ipem1(IMPC)Mbp HOM Late adult 3.90×10-05
decreased food intake Pdcd6ipem1(IMPC)Hmgu HOM   Late adult 1.30×10-05
polycystic kidney Pdcd6ipem1(IMPC)Mbp HOM Late adult 0.00
abnormal eye morphology Pdcd6ipem1(IMPC)Mbp HOM Late adult 0.00
decreased brain size Pdcd6ipem1(IMPC)Mbp HOM Early adult 0.00
enlarged stomach Pdcd6ipem1(IMPC)Mbp HOM Late adult 0.00
increased circulating HDL cholesterol level Pdcd6ipem1(IMPC)Mbp HOM Late adult 1.89×10-06
abnormal lymph node morphology Pdcd6ipem1(IMPC)Mbp HOM Late adult 0.00
increased grip strength Pdcd6ipem1(IMPC)Hmgu HOM Late adult 1.12×10-09
hydrocephaly Pdcd6ipem1(IMPC)Mbp HOM Late adult 0.00
increased grip strength Pdcd6ipem1(IMPC)Mbp HOM Late adult 4.33×10-05
microphthalmia Pdcd6ipem1(IMPC)Mbp HOM Late adult 0.00
abnormal testis morphology Pdcd6ipem1(IMPC)Mbp HOM Early adult 0.00
abnormal kidney morphology Pdcd6ipem1(IMPC)Mbp HOM Late adult 0.00
enlarged spleen Pdcd6ipem1(IMPC)Mbp HOM Late adult 0.00
abnormal lung morphology Pdcd6ipem1(IMPC)Mbp HOM Late adult 0.00
enlarged seminal vesicle Pdcd6ipem1(IMPC)Mbp HOM Late adult 0.00
abnormal skin morphology Pdcd6ipem1(IMPC)Mbp HOM Late adult 0.00
abnormal brain morphology Pdcd6ipem1(IMPC)Mbp HOM Early adult 0.00
increased mean platelet volume Pdcd6ipem1(IMPC)Mbp HOM   Early adult 4.58×10-05
decreased body length Pdcd6ipem1(IMPC)Mbp HOM Late adult 2.41×10-05
decreased brain size Pdcd6ipem1(IMPC)Mbp HOM Late adult 0.00
decreased body length Pdcd6ipem1(IMPC)Mbp HOM Early adult 6.27×10-05
small testis Pdcd6ipem1(IMPC)Mbp HOM Early adult 0.00
abnormal heart morphology Pdcd6ipem1(IMPC)Mbp HOM Early adult 0.00
thick skin Pdcd6ipem1(IMPC)Mbp HOM Late adult 0.00
abnormal stomach morphology Pdcd6ipem1(IMPC)Mbp HOM Late adult 0.00
decreased heart weight Pdcd6ipem1(IMPC)Mbp HOM Late adult 6.55×10-11
abnormal testis morphology Pdcd6ipem1(IMPC)Mbp HOM Late adult 0.00
abnormal seminal vesicle morphology Pdcd6ipem1(IMPC)Mbp HOM Late adult 0.00
abnormal spleen morphology Pdcd6ipem1(IMPC)Mbp HOM Late adult 0.00
small kidney Pdcd6ipem1(IMPC)Mbp HOM Late adult 0.00
decreased circulating bilirubin level Pdcd6ipem1(IMPC)Mbp HOM Late adult 1.20×10-05
small heart Pdcd6ipem1(IMPC)Mbp HOM Early adult 0.00
decreased brain weight Pdcd6ipem1(IMPC)Mbp HOM Early adult 5.58×10-42

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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 Dorso Ventral

48 Images

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X-ray

XRay Images Whole Body Lateral Orientation

16 Images

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X-ray

XRay Images Whole Body Lateral Orientation

16 Images

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Histopathology

Images

8 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.

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 Similarity of
phenotypes		 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