Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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
abnormal testis morphology Pdcd6ipem1(IMPC)Mbp HOM Late adult 0.00
preweaning lethality, incomplete penetrance Pdcd6ipem1(IMPC)Mbp HOM   Early adult 0.00
abnormal eye morphology Pdcd6ipem1(IMPC)Mbp HOM Late adult 0.00
abnormal spleen morphology Pdcd6ipem1(IMPC)Mbp HOM Late adult 0.00
abnormal brain morphology Pdcd6ipem1(IMPC)Mbp HOM Late adult 0.00
increased grip strength Pdcd6ipem1(IMPC)Mbp HOM Late adult 4.14×10-05
abnormal lymph node morphology Pdcd6ipem1(IMPC)Mbp HOM Late adult 0.00
decreased circulating iron level Pdcd6ipem1(IMPC)Hmgu HOM   Late adult 3.58×10-05
thick skin Pdcd6ipem1(IMPC)Mbp HOM Late adult 0.00
microphthalmia Pdcd6ipem1(IMPC)Mbp HOM Late adult 0.00
decreased brain weight Pdcd6ipem1(IMPC)Mbp HOM   Early adult 8.32×10-42
decreased circulating bilirubin level Pdcd6ipem1(IMPC)Mbp HOM Late adult 1.05×10-05
increased blood urea nitrogen level Pdcd6ipem1(IMPC)Mbp HOM Late adult 5.30×10-05
small testis Pdcd6ipem1(IMPC)Mbp HOM Early adult 0.00
enlarged spleen Pdcd6ipem1(IMPC)Mbp HOM Late adult 0.00
increased circulating alkaline phosphatase level Pdcd6ipem1(IMPC)Mbp HOM   Early adult 7.67×10-05
abnormal heart morphology Pdcd6ipem1(IMPC)Mbp HOM Early adult 0.00
decreased body length Pdcd6ipem1(IMPC)Mbp HOM Early adult 6.14×10-05
abnormal seminal vesicle morphology Pdcd6ipem1(IMPC)Mbp HOM Late adult 0.00
enlarged seminal vesicle Pdcd6ipem1(IMPC)Mbp HOM Late adult 0.00
increased mean platelet volume Pdcd6ipem1(IMPC)Mbp HOM   Early adult 4.60×10-05
decreased brain size Pdcd6ipem1(IMPC)Mbp HOM Early adult 0.00
abnormal skin morphology Pdcd6ipem1(IMPC)Mbp HOM Late adult 0.00
small kidney Pdcd6ipem1(IMPC)Mbp HOM Late adult 0.00
abnormal kidney morphology Pdcd6ipem1(IMPC)Mbp HOM Late adult 0.00
polycystic kidney Pdcd6ipem1(IMPC)Mbp HOM Late adult 0.00
hydrocephaly Pdcd6ipem1(IMPC)Mbp HOM Late adult 0.00
abnormal testis morphology Pdcd6ipem1(IMPC)Mbp HOM Early adult 0.00
abnormal stomach morphology Pdcd6ipem1(IMPC)Mbp HOM Late adult 0.00
small heart Pdcd6ipem1(IMPC)Mbp HOM Early adult 0.00
abnormal brain morphology Pdcd6ipem1(IMPC)Mbp HOM Early adult 0.00
abnormal lung 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
enlarged stomach Pdcd6ipem1(IMPC)Mbp HOM Late adult 0.00
decreased brain size Pdcd6ipem1(IMPC)Mbp HOM Late adult 0.00
decreased body length Pdcd6ipem1(IMPC)Mbp HOM Late adult 2.41×10-05
enlarged lymph nodes Pdcd6ipem1(IMPC)Hmgu HOM Late adult 0.00
decreased heart weight Pdcd6ipem1(IMPC)Mbp HOM Late adult 6.55×10-11

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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

X-ray

XRay Images Whole Body Dorso Ventral

48 Images

X-ray

XRay Images Whole Body Lateral Orientation

16 Images

Histopathology

Images

4 Images

X-ray

XRay Images Whole Body Lateral Orientation

16 Images

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
Hyperechogenic kidneys, Reduced renal corticomedullary differentiation OMIM:620047

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Iron Overload In Africa
Elevated transferrin saturation OMIM:601195
Immunodeficiency 32A
Lymphadenopathy OMIM:614893
Hydrocephalus, Congenital, 1
Hydrocephalus, Ventriculomegaly OMIM:236600
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Hydrocephalus, Ventriculomegaly OMIM:615938
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Hydrocephalus With Cerebellar Agenesis
Hydrocephalus OMIM:307010
Chudley-Mccullough Syndrome
Partial agenesis of the corpus callosum, Hydrocephalus, Dysplastic corpus callosum, Ventriculomegaly OMIM:604213
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormality of the lymph nodes OMIM:136580
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Band Heterotopia
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:600348
Bleeding Disorder, Platelet-Type, 24
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... OMIM:619271
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hydrocephalus, Ventriculomegaly OMIM:615937
Papilloma Of Choroid Plexus
Hydrocephalus, Choroid plexus papilloma ORPHA:2807
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus, Agenesis of corpus callosum OMIM:166990
Pineocytoma
Hydrocephalus, Increased CSF protein ORPHA:251912
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus ORPHA:2703
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Periportal fibrosis, Absence of renal corticomedullary differentiation, Splenomegal... OMIM:263200
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Ventriculomegaly OMIM:611808
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Malformation of the hepatic ductal plate, Cholestasis, Hepatic cysts, Enlarged kidn... OMIM:208540
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Hydrocephalus, Dandy-Walker malformation ORPHA:1538
Alg13-Cdg
Abnormal lateral ventricle morphology, Decreased body weight ORPHA:324422
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Impaired epinephrine-induced platelet aggregation, Neutrophil inclusion bodies, Menorrhagia, Leuk... OMIM:155100
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Slender build, Ventriculomegaly, Astrocytosis OMIM:611087
Bleeding Disorder, Platelet-Type, 16
Impaired platelet aggregation, Macrothrombocytopenia, Giant platelets, Platelet anisocytosis, Ane... OMIM:187800
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Hydrocephalus, Ventriculomegaly OMIM:618709
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy, Esophageal carcinoma ORPHA:99977
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Dandy-Walker malformation OMIM:123155
Edinburgh Malformation Syndrome
Failure to thrive, Hydrocephalus OMIM:129850
Lissencephaly 4
Colpocephaly, Agenesis of corpus callosum OMIM:614019
Bardet-Biedl Syndrome 16
External genital hypoplasia, Renal agenesis, Abnormality of the kidney, Renal dysplasia, Bronchio... OMIM:615993
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus ORPHA:99966
Nephronophthisis 16
Aortic valve stenosis, Periportal fibrosis, Nephronophthisis, Pulmonic stenosis, Cholestasis, Enl... OMIM:615382
Beemer Lethal Malformation Syndrome
Hydrocephalus OMIM:209970
Bleeding Disorder, Platelet-Type, 15
Increased mean platelet volume, Thrombocytopenia, Platelet anisocytosis OMIM:615193
Masa Syndrome
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:303350
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Lymphadenopathy OMIM:312500
Hepatic Venoocclusive Disease With Immunodeficiency
Abnormality of the liver, Endocardial fibrosis, Absence of lymph node germinal center OMIM:235550
Pulmonary Nodular Lymphoid Hyperplasia
Follicular hyperplasia, Mediastinal lymphadenopathy, Plasmacytosis, Nodular pattern on pulmonary ... ORPHA:60026
Bernard-Soulier Syndrome
Impaired ristocetin-induced platelet aggregation, Menorrhagia, Macrothrombocytopenia, Giant plate... OMIM:231200
Femoral-Facial Syndrome
Renal hypoplasia/aplasia, Cleft palate, Maternal diabetes, Long penis, Polycystic kidney dysplasi... ORPHA:1988
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Hydrocephalus, Agenesis of corpus callosum OMIM:300864
Meckel Syndrome, Type 1
Abnormal cardiac septum morphology, Hydrocephalus, Ambiguous genitalia, female, External genital ... OMIM:249000
Peroxisome Biogenesis Disorder 2A (Zellweger)
Hepatomegaly, Jaundice, Cleft palate, Aminoaciduria, Elevated circulating long chain fatty acid c... OMIM:214110
Myh9-Related Disease
Neutrophil inclusion bodies, Menorrhagia, Congenital thrombocytopenia, Increased mean platelet vo... ORPHA:182050
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
High palate, Hepatomegaly, Enlarged kidney, Elevated circulating creatinine concentration, Cardio... OMIM:608836
Distal Tetrasomy 15Q
High palate, Hydrocele testis, Hydrocephalus, Atrial septal defect, Abnormal external genitalia, ... ORPHA:314588
Hyperparathyroidism 2 With Jaw Tumors
Nephrolithiasis, Hurthle cell thyroid adenoma, Parathyroid adenoma, Parathyroid carcinoma, Nephro... OMIM:145001
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Elevated circulating acylcarnitine concentration, Hydrocephalus, Hepatomegaly, Abnormal myocardiu... ORPHA:228308
Carcinoma Of Esophagus
Esophageal neoplasm, Gastroesophageal reflux, Barrett esophagus, Dysphagia, Abnormal intestine mo... ORPHA:70482
Caroli Disease
Cholelithiasis, Cholangiocarcinoma, Hepatomegaly, Leukocytosis, Splenomegaly, Cirrhosis, Cholesta... ORPHA:53035
Mantle Cell Lymphoma
Lymphadenopathy, Abnormality of the gastrointestinal tract, Splenomegaly ORPHA:52416
Dandy-Walker Syndrome
Hydrocephalus, Dilated fourth ventricle OMIM:220200
1Q21.1 Microduplication Syndrome
Hydrocephalus, Gastroesophageal reflux, Hypospadias, Tetralogy of Fallot, Cryptorchidism ORPHA:250994
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hiatus hernia, Hepatomegaly, Splenomegaly, Buphthalmos, Congenital hypothyroidism, Cholestasis, P... OMIM:610199
Platelet Glycoprotein Iv Deficiency
Thrombocytopenia, Giant platelets OMIM:608404
Congenital Disorder Of Glycosylation, Type Il
Abnormal cardiac septum morphology, Hepatomegaly, Hepatosplenomegaly, Polycystic kidney dysplasia... OMIM:608776
Bardet-Biedl Syndrome 10
Abnormality of the kidney, Renal cyst, Renal insufficiency, Hypogonadism OMIM:615987
Fechtner syndrome
Neutrophil inclusion bodies, Menorrhagia, Leukocyte inclusion bodies, Giant platelets, Thrombocyt... OMIM:153640
Methylmalonic Acidemia With Homocystinuria
Failure to thrive, Hydrocephalus ORPHA:26
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus ORPHA:1008
Hereditary Amyloidosis With Primary Renal Involvement
Hepatomegaly, Decreased glomerular filtration rate, Renal interstitial amyloid deposits, Elevated... ORPHA:85450
Autosomal Recessive Polycystic Kidney Disease
Cholangiocarcinoma, Hepatoblastoma, Cholestasis, Enlarged kidney, Pulmonary hypoplasia, Esophagea... ORPHA:731
Hydrocephalus, Congenital, 3, With Brain Anomalies
Hydrocephalus, Holoprosencephaly, Ventriculomegaly, Hydranencephaly, Dandy-Walker malformation OMIM:617967
Polyrrhinia
Lateral ventricle dilatation, Abnormal third ventricle morphology ORPHA:141091
Burkitt Lymphoma
Abnormality of the lymph nodes, Abnormality of the spleen, Abnormality of the pancreas, Intestina... ORPHA:543
Epilepsy, Pyridoxine-Dependent
Hydrocephalus OMIM:266100
Peroxisome Biogenesis Disorder 6A (Zellweger)
Colpocephaly OMIM:614870
Giant platelet syndrome with thrombocytopenia
Thrombocytopenia, Giant platelets OMIM:137560
Caroli Syndrome
Melena, Cholangiocarcinoma, Pancreatitis, Hepatomegaly, Esophageal varix, Jaundice, Hyperbilirubi... ORPHA:480520
Matthew-Wood Syndrome
Annular pancreas, Microphthalmia, Aplasia/Hypoplasia of the pancreas, Abnormal spleen morphology,... ORPHA:2470
Gillessen-Kaesbach-Nishimura Syndrome
Bicornuate uterus, Periportal fibrosis, Abnormal lung lobation, Polycystic kidney dysplasia, Pulm... OMIM:263210
Congenital Hydrocephalus
Hydrocephalus, Colpocephaly, Ventriculomegaly ORPHA:2185
46,Xy Sex Reversal 4
High palate, Anal atresia, Sex reversal, Hypoplasia of the uterus, Increased blood urea nitrogen,... OMIM:154230
Polycystic Kidney Disease 5
Polycystic kidney dysplasia, Hyperechogenic kidneys, Stage 5 chronic kidney disease OMIM:617610
Syndromic Diarrhea
Hepatomegaly, Gastritis, Hepatoblastoma, Abnormality of iron homeostasis, Ventricular septal defe... ORPHA:84064
Fanconi Anemia, Complementation Group R
Hydrocephalus OMIM:617244
Alpha-1-Antitrypsin Deficiency
Panacinar emphysema, Reduced serum alpha-1-antitrypsin, Chronic bronchitis, Splenomegaly, Cirrhos... OMIM:613490
Pelger-Huet Anomaly
Hyposegmentation of neutrophil nuclei, Ventricular septal defect, Abnormality of neutrophils, Gia... OMIM:169400
Adenocarcinoma Of The Esophagus
Lymphadenopathy, Gastroesophageal reflux, Esophageal carcinoma, Barrett esophagus ORPHA:99976
Immunodeficiency 104
Gastroesophageal reflux, Hepatomegaly, Splenomegaly, T lymphocytopenia, Pneumonia, Lymphadenopathy OMIM:608971
Macrosomia With Microphthalmia, Lethal
Microphthalmia, Median cleft palate, Respiratory infections in early life OMIM:248110
Dextrocardia
Hydrocephalus, Webbed neck, Intestinal malrotation, Abnormality of the ureter, Abnormality of the... ORPHA:1666
Prune Belly Syndrome
Abnormality of the ureter, Ventricular septal defect, Congenital posterior urethral valve, Decrea... ORPHA:2970
Syndromic Recessive X-Linked Ichthyosis
Abnormal stomach morphology, Unilateral renal agenesis, Testicular seminoma, Renal insufficiency,... ORPHA:281090
Kleeblattschaedel
Hydrocephalus OMIM:148800
Central Neurocytoma
Hydrocephalus, Abnormal lateral ventricle morphology ORPHA:73256
RCAD (renal cysts and diabetes)
Multiple renal cysts, Abnormality of the liver, Diabetes mellitus DECIPHER:47
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hypokalemia, Hepatomegaly, Elevated alpha-fetoprotein, Recurrent urinary tract infections, Multip... OMIM:613095
Diencephalic Syndrome
Cachexia, Hydrocephalus, Decreased body weight ORPHA:1672
Microgastria-Limb Reduction Defects Association
Type I truncus arteriosus, Gastroesophageal reflux, Bicornuate uterus, Secundum atrial septal def... OMIM:156810
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... ORPHA:158057
Axial Mesodermal Dysplasia Spectrum
Anal atresia, Hydrocephalus, Renal hypoplasia/aplasia, Gastroesophageal reflux, Morphological abn... ORPHA:1834
Hepatorenocardiac Degenerative Fibrosis
Reduced renal corticomedullary differentiation, Cirrhosis, Hepatosplenomegaly, Hepatocellular car... OMIM:619902
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Hydrocephalus, Ventriculomegaly OMIM:614830
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum ORPHA:250972
Gombo Syndrome
Abnormal heart morphology, Delayed puberty, Microphthalmia OMIM:233270
Campomelia, Cumming Type
Polycystic liver disease, Polycystic kidney dysplasia, Polysplenia, Pancreatic cysts OMIM:211890
Hydrolethalus Syndrome 2
Hydrocephalus, Agenesis of corpus callosum, Anencephaly, Ventriculomegaly OMIM:614120
Developmental And Epileptic Encephalopathy 49
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:617281
Peroxisome Biogenesis Disorder 3A (Zellweger)
Polycystic kidney dysplasia, Hepatomegaly OMIM:614859
Trisomy 17P
High palate, Hydrocephalus, Aortic valve stenosis, Hypoplasia of penis, Macroglossia, Cleft palat... ORPHA:261290
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Increased circulating ferritin concentration, Elevated transferrin saturation OMIM:205950
Infantile Sialic Acid Storage Disease
High palate, Hydrocephalus, Nephrotic syndrome, Hepatomegaly, Vacuolated lymphocytes, Splenomegal... OMIM:269920
Nephronophthisis 14
Situs inversus totalis, Polycystic kidney dysplasia, Nephronophthisis OMIM:614844
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
High palate, Cleft palate, Short uvula, Hypospadias, Renal cyst, Polycystic kidney dysplasia, Hep... OMIM:614091
Sitosterolemia 1
Episodic hemolytic anemia, Stomatocytosis, Splenomegaly, Anemia, Impaired platelet aggregation, C... OMIM:210250
Thrombocytopenia 4
Thrombocytopenia, Abnormal platelet volume OMIM:612004
Pontocerebellar Hypoplasia, Type 15
Partial agenesis of the corpus callosum, Hydrocephalus, Agenesis of corpus callosum OMIM:619302
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:613154
Carnitine Palmitoyltransferase Ii Deficiency
Elevated circulating acylcarnitine concentration, Hydrocephalus, Hyperlipidemia, Hepatomegaly, He... ORPHA:157
Sporadic Creutzfeldt-Jakob Disease
Gliosis, Increased CSF protein, Astrocytosis ORPHA:204
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Abnormality of the lymph nodes, Chronic noninfectious lymphadenopathy, Renal cortical adenoma, Pa... ORPHA:97290
22Q11.2 Deletion Syndrome
Cholelithiasis, Tricuspid atresia, Hydrocephalus, Cleft palate, Abnormality of the tonsils, Ventr... ORPHA:567
Biemond Syndrome Ii
Hydrocephalus OMIM:210350
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Meckel Syndrome 14
Holoprosencephaly, Single ventricle, Ambiguous genitalia, Polycystic kidney dysplasia, Pulmonary ... OMIM:619879
Congenital Toxoplasmosis
Hydrocephalus, Hepatomegaly, Thrombocytopenia, Ascites, Ventriculomegaly, Microphthalmia, Anemia,... ORPHA:858
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Corpus Callosum, Partial Agenesis Of, X-Linked
Partial agenesis of the corpus callosum, Hydrocephalus OMIM:304100
Central Precocious Puberty
Increased body weight, Hydrocephalus, Obesity, Hypothalamic hamartoma ORPHA:759
Cystic Echinococcosis
Abnormality of the testis size, Cholestatic liver disease, Hepatomegaly, Pulmonary cyst, Multiple... ORPHA:400
Slc35A1-Cdg
Thrombocytopenia, Abnormal platelet granules, Giant platelets, Neutropenia ORPHA:238459
Diabetic Embryopathy
Aplasia/Hypoplasia affecting the eye, Hydrocephalus, Renal hypoplasia/aplasia, Cleft palate, Micr... ORPHA:1926
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy OMIM:616126
Multiple Acyl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Hepatomegaly, Lacticaciduria, 3-Methylglutaric ... ORPHA:26791
Takenouchi-Kosaki Syndrome
Abnormal cardiac septum morphology, Pulmonic stenosis, Hypospadias, Increased mean platelet volum... OMIM:616737
Alpha-Heavy Chain Disease
Malabsorption, Hypocalcemia, Hepatomegaly, Splenomegaly, Abnormality of the small intestine, Asci... ORPHA:100025
Igg4-Related Retroperitoneal Fibrosis
Hydrocele testis, Impotence, Elevated circulating C-reactive protein concentration, Hematuria, Va... ORPHA:49041
Autoimmune Lymphoproliferative Syndrome, Type Iii
Hepatomegaly, Elevated circulating C-reactive protein concentration, Increased proportion autorea... OMIM:615559
Focal Cortical Dysplasia, Type Ii
Astrocytosis OMIM:607341
Mosaic Trisomy 9
High palate, Cleft palate, Abnormal liver lobulation, Ventricular septal defect, Horseshoe kidney... ORPHA:99776
Biemond Syndrome Type 2
Hydrocephalus, Microphthalmia, Hypospadias, Hypogonadotropic hypogonadism, Delayed puberty, Hypog... ORPHA:141333
Meckel Syndrome, Type 11
Polycystic kidney dysplasia, Occipital encephalocele OMIM:615397
Hemochromatosis, Type 1
Amenorrhea, Increased circulating ferritin concentration, Testicular atrophy, Impotence, Hepatome... OMIM:235200
Familial Infantile Bilateral Striatal Necrosis
Failure to thrive, Basal ganglia gliosis, Astrocytosis ORPHA:225154
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Colitis, Hemophagocytosis, Splenomegaly, Hepatosple... OMIM:613101
Microphthalmia, Syndromic 12
Bicornuate uterus, Anophthalmia, Hypoplastic left atrium, Ventricular septal defect, Pulmonary hy... OMIM:615524
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Median cleft palate, Hepatomegaly, Recurrent respiratory infections, Microphthalmia ORPHA:2432
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Hepatic cysts, Mitral valve prolapse, Polycystic kidney dysplasia, Renal insufficiency, Colonic d... OMIM:173900
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Hepatomegaly, Abnormality of the kidney, Cystic renal dysplasia, Ectopic kidney, Ventriculomegaly... OMIM:613730
Bardet-Biedl Syndrome 4
External genital hypoplasia, Abnormality of the kidney, Renal cyst, Hypogonadism, Cryptorchidism OMIM:615982
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Jaundice, Renal cortical cysts, Glycosuria, Elevated circulating glutaric acid conc... OMIM:231680
Familial Papillary Or Follicular Thyroid Carcinoma
Abnormality of the lymph nodes, Chronic noninfectious lymphadenopathy, Papillary thyroid carcinom... ORPHA:319487
Bresek Syndrome
Hydrocephalus, Cleft palate, Optic nerve hypoplasia, Hypoplasia of the bladder, Renal dysplasia, ... ORPHA:85284
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Elevated circulating C-reactive protein concentration, Neutrophilia, Abnormality of the lymph nod... ORPHA:54251
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Abnormal lateral ventricle morphology ORPHA:488635
Nphp3-Related Meckel-Like Syndrome
Abnormal biliary tract morphology, Dandy-Walker malformation, Intestinal malrotation, Multicystic... ORPHA:3032
Gracile Syndrome
Increased circulating ferritin concentration, Increased serum pyruvate, Increased serum iron OMIM:603358
Interstitial Nephritis, Karyomegalic
Increased blood urea nitrogen, Nephronophthisis, Glycosuria, Hematuria, Tubulointerstitial nephri... OMIM:614817
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypoparathyroidism, Hypocalcemia, Cleft palate, Unilateral renal agenesis, Uterus didelphys, Psor... ORPHA:2237
Meckel Syndrome 13
Polycystic kidney dysplasia, Occipital encephalocele OMIM:617562
Microgastria-Limb Reduction Defect Syndrome
Hiatus hernia, Hepatomegaly, Tracheoesophageal fistula, Horseshoe kidney, Microphthalmia, Perinea... ORPHA:2538
Mmep Syndrome
Ventricular septal defect, Cryptorchidism, Microphthalmia ORPHA:3434
Branchiootorenal Syndrome 1
High palate, Euthyroid goiter, Cleft palate, Unilateral renal agenesis, Intestinal malrotation, A... OMIM:113650
Fanconi Anemia, Complementation Group O
Anal atresia, External genital hypoplasia, Renal cyst, Hydronephrosis, Cryptorchidism, Rectal atr... OMIM:613390
Pettigrew Syndrome
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:304340
Fried Syndrome
Hydrocephalus ORPHA:85335
Faciothoracogenital Syndrome
Prominent scrotal raphe, Glandular hypospadias, Shawl scrotum, Microphthalmia OMIM:227320
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Hepatitis, Respiratory ... ORPHA:444463
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anemia of inadequate production, Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocy... ORPHA:67044
Developmental And Epileptic Encephalopathy 36
Hydrocephalus OMIM:300884
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Increased mean platelet volume, Thrombocytopenia OMIM:300048
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Hydrocephalus, Occipital encephalocele, Ventriculomegaly ORPHA:324416
Isolated Polycystic Liver Disease
Gastroesophageal reflux, Hepatomegaly, Polycystic liver disease, Multiple renal cysts, Abnormalit... ORPHA:2924
Congenital Fibrinogen Deficiency
Micropenis, Right ventricular hypertrophy, Left ventricular hypertrophy, Hemorrhagic ovarian cyst... ORPHA:335
Autosomal Recessive Spastic Paraplegia Type 66
Colpocephaly ORPHA:401815
Laryngeal Neuroendocrine Tumor
Increased serum serotonin, Adrenocorticotropic hormone excess, Inappropriate antidiuretic hormone... ORPHA:100083
Papilloma Of Choroid Plexus
Hydrocephalus, Choroid plexus papilloma OMIM:260500
Intellectual Developmental Disorder, Autosomal Recessive 68
Hydrocephalus, Small for gestational age OMIM:618302
Holoprosencephaly 5
Hydrocephalus, Alobar holoprosencephaly, Holoprosencephaly, Syntelencephaly, Semilobar holoprosen... OMIM:609637
X-Linked Sideroblastic Anemia
Abnormality of iron homeostasis, Splenomegaly ORPHA:75563
Gómez-López-Hernández Syndrome
Hydrocephalus ORPHA:1532
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Hydrocephalus, Ventriculomegaly, Hydranencephaly, Agenesis of corpus callosum, Dandy-Walker malfo... OMIM:225790
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus OMIM:258320
Trichohepatoenteric Syndrome 1
Splenomegaly, Pulmonic stenosis, Hypospadias, Tetralogy of Fallot, Hypermethioninemia, Abnormalit... OMIM:222470
Immunodeficiency 75
Hepatosplenomegaly, Follicular hyperplasia, Decreased proportion of class-switched memory B cells... OMIM:619126
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Hydrocephalus, Micropenis, Elevated circulating creatine kinase concentration, Anencephaly, Renal... OMIM:615287
Peutz-Jeghers Syndrome
Neoplasm of the rectum, Stomach cancer, Abnormality of the ureter, Neoplasm of the small intestin... ORPHA:2869
Craniotelencephalic Dysplasia
Hydrocephalus, Agenesis of corpus callosum, Frontal encephalocele, Arrhinencephaly ORPHA:1528
Triploidy
Aplasia/Hypoplasia affecting the eye, Abnormal cardiac septum morphology, Hydrocephalus, Hepatome... ORPHA:3376
Temple Syndrome
High palate, Hydrocephalus, Cleft palate, Maturity-onset diabetes of the young, Bifid uvula, Hype... OMIM:616222
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Hydrocephalus, Intestinal malrotation, Choroid plexus cyst, Hyperechogenic kidneys, Polycystic ki... OMIM:617866
Unilateral Hemispheric Polymicrogyria
Lateral ventricle dilatation ORPHA:101071
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hydrocephalus OMIM:619470
Craniofacial Dyssynostosis With Short Stature
Hydrocephalus, Hypospadias, Pyloric stenosis, Ventricular septal defect, Horseshoe kidney, Ventri... OMIM:218350
Progressive Non-Fluent Aphasia
Astrocytosis ORPHA:100070
Mckusick-Kaufman Syndrome
Anal atresia, Vesicovaginal fistula, Hydrometrocolpos, Hydroureter, Transverse vaginal septum, Po... OMIM:236700
Mirage Syndrome
Adrenal insufficiency, Hydrocephalus, Gastroesophageal reflux, Lymphopenia, Cryptorchidism, Aspir... OMIM:617053
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Renal hypoplasia/aplasia, Cleft palate, Multiple renal cysts, Tetralogy of Fallot, Ventricular se... ORPHA:1166
Frontal Encephalocele
Hydrocephalus, Spina bifida, Encephalocele ORPHA:1931
Cholestasis, Progressive Familial Intrahepatic, 12
Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Cholestasis, Conjugated hyperbilirubinemia, Prote... OMIM:620010
Immunodeficiency 76
Colitis, Lymphopenia, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Recurrent pneumonia, Re... OMIM:619164
Hepatoportal Sclerosis
Intrahepatic portal vein sclerosis, Abnormality of the hepatic vasculature, Periportal fibrosis, ... ORPHA:64743
Short Rib-Polydactyly Syndrome
Urogenital sinus anomaly, Cleft palate, Nephronophthisis, Intestinal malrotation, Hypospadias, Ab... ORPHA:1505
H Syndrome
Histiocytosis, Amenorrhea, Malabsorption, Hydrocephalus, Azoospermia, Micropenis, Abnormality of ... ORPHA:168569
Microcephaly-Microcornea Syndrome, Seemanova Type
High palate, Microphthalmia, Hypogonadism ORPHA:2528
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Splenomegaly, Menorrhagia, Hemolytic anemia, Increased mean platelet volume, Stomatocytosis OMIM:153670
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Astrocytosis OMIM:600795
Xk Aprosencephaly Syndrome
Anal atresia, Atrial septal defect, Abnormal external genitalia, Ventricular septal defect, Micro... ORPHA:3469
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Thyroiditis, Hepatomegaly, Coombs-positive hemolytic anemia, Splenomegaly, Autoimmune thrombocyto... OMIM:619375
Distal Monosomy 12Q
Annular pancreas, Duodenal atresia, Pituitary adenoma, Congenital hypertrophy of left ventricle, ... ORPHA:96149
Kerion Celsi
Lymphadenopathy ORPHA:499
Drug-Induced Lupus Erythematosus
Elevated circulating C-reactive protein concentration, Increased blood urea nitrogen, Elevated ci... ORPHA:231111
Pallister-Hall-Like Syndrome
Hydrocephalus, Cleft palate, Micropenis, Anterior hypopituitarism, Renal dysplasia, Pulmonary hyp... OMIM:241800
Odontochondrodysplasia 1
Polycystic kidney dysplasia, Pulmonary hypoplasia, Recurrent respiratory infections, Nephronophth... OMIM:184260
Hemochromatosis, Type 2B
Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Cirrhosis, Secondary am... OMIM:613313
Acalvaria
Hydrocephalus, Spina bifida, Holoprosencephaly ORPHA:945
Alexander Disease
Hydrocephalus, Increased CSF protein OMIM:203450
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Hydrocephalus, Agenesis of corpus callosum, Aqueductal stenosis, Holoprosencephaly ORPHA:2182
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Renal hypoplasia/aplasia, Hypoplasia of penis, Splenomegaly, Hypospadias, Abnormality of the uret... ORPHA:1046
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Atrial septal defect, Cleft palate, Micropenis, Intestinal malrotation, Pancreatic fibrosis, Hama... OMIM:263520
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Anal atresia, Cleft palate, Micropenis, Intestinal malrotation, Bifid tongue, Enlarged kidney, Ha... OMIM:613091
Behavioral Variant Of Frontotemporal Dementia
Astrocytosis ORPHA:275864
Microphthalmia, Syndromic 9
Multilobulated spleen, Hypoplastic left atrium, Ventricular septal defect, Pulmonary hypoplasia, ... OMIM:601186
Tuberous Sclerosis Complex
Chronic kidney disease, Pituitary adenoma, Subependymal nodules, Parathyroid adenoma, Carcinoid t... ORPHA:805
Ogden Syndrome
High palate, Hydrocele testis, Enlarged kidney, Ventricular septal defect, Pulmonary hypoplasia, ... OMIM:300855
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Microphthalmia, Isolated 4
Absent testis, Microphthalmia OMIM:613094
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Hydrocephalus, Occipital encephalocele ORPHA:352682
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Gracile Bone Dysplasia
Hydrocephalus, Hypocalcemia, Micropenis, Hypoplastic spleen, Microphthalmia, Ankyloglossia, Ascit... OMIM:602361
Hydrocephalus-Obesity-Hypogonadism Syndrome
Azoospermia, Hydrocephalus, Obesity ORPHA:2183
Inherited Creutzfeldt-Jakob Disease
Increased CSF protein, Astrocytosis ORPHA:282166
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hydrocephalus, Hypoplasia of penis, Holoprosencephaly, Hypospadias, Tracheoesophageal fistula, An... ORPHA:77298
Nanophthalmos 4
Microphthalmia OMIM:615972
Genitopalatocardiac Syndrome
Double outlet right ventricle, Gonadal dysgenesis, male, Cleft palate, Hypospadias, Ventricular s... OMIM:231060
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:618577
Griscelli Syndrome
Hydrocephalus, Hepatomegaly, Splenomegaly, Abnormal circulating lipid concentration, Leukopenia, ... ORPHA:381
Ritscher-Schinzel Syndrome 1
Double outlet right ventricle, Anal atresia, Hydrocephalus, Atrial septal defect, Decreased respo... OMIM:220210
Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius
Hydrocephalus, Agenesis of corpus callosum, Aqueductal stenosis OMIM:307000
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Fanconi Anemia, Complementation Group B
Duodenal atresia, Hydrocephalus, Micropenis, Hypergonadotropic hypogonadism, Tracheoesophageal fi... OMIM:300514
Serrated Polyposis Syndrome
Adenomatous colonic polyposis, Ovarian neoplasm, Prostate cancer, Neoplasm of the large intestine... ORPHA:157798
Aicardi-Goutieres Syndrome 4
Hydrocephalus, Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Ventriculomegaly, Pancytopenia, CS... OMIM:610333
Pyruvate Dehydrogenase E1-Alpha Deficiency
Abnormal CSF pyruvate family amino acid concentration, Increased CSF lactate, Gliosis, Cerebellar... ORPHA:79243
Achondroplasia
Hydrocephalus OMIM:100800
Congenital Disorder Of Glycosylation, Type Iil
Hydrocephalus, Hepatomegaly, Atrial septal defect, Splenomegaly, Unilateral renal agenesis, Cirrh... OMIM:614576
Primary Ciliary Dyskinesia
Abnormal heart morphology, Double outlet right ventricle, Hydrocephalus, Anomalous pulmonary veno... ORPHA:244
Immunodeficiency 91 And Hyperinflammation
Nephrotic syndrome, Hepatomegaly, Neutrophilia, Hemophagocytosis, Elevated circulating C-reactive... OMIM:619644
Granulomatous Slack Skin
Nephrocalcinosis, Acute kidney injury, Hypercalcemia, Abnormality of the lymph nodes ORPHA:33111
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Agenesis of corpus callosum ORPHA:380
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Splenomegaly, Mediastinal lymphadenopathy, Autoimmune thrombocytopenia, Recurrent sinusitis, Decr... OMIM:300853
Papillary Tumor Of The Pineal Region
Hydrocephalus, Increased CSF protein ORPHA:251915
Trisomy 13
Atrial septal defect, High, narrow palate, Cleft palate, Abnormality of the ureter, Anophthalmia,... ORPHA:3378
Vacterl/Vater Association
Abnormal cardiac septum morphology, Cleft palate, Tracheoesophageal fistula, Anencephaly, Abnorma... ORPHA:887
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
High palate, Hypocalcemia, Hepatomegaly, Hypoproteinemia, Splenomegaly, Micropenis, Pulmonary lym... ORPHA:1655
Hemochromatosis, Type 2A
Amenorrhea, Infertility, Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly... OMIM:602390
Orofaciodigital Syndrome I
High palate, Myelomeningocele, Hydrocephalus, Cleft palate, Ovarian cyst, Bifid tongue, Lobulated... OMIM:311200
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Crohn's disease, Nephrotic syndrome, Lymphopenia, Splenomegaly, Recurrent tonsillitis, Lymphadeni... OMIM:618935
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Polycystic liver disease, Increased total bilirubin, Renal cyst, Ascites OMIM:174050
Isolated Follicle Stimulating Hormone Deficiency
Testicular atrophy, Decreased serum testosterone concentration, Azoospermia, Delayed menarche, Hy... ORPHA:52901
Kimura Disease
Follicular hyperplasia, Lymphadenopathy ORPHA:482
3C Syndrome
Abnormal mitral valve morphology, Hydrocephalus, Cleft palate, Atrioventricular canal defect, Ven... ORPHA:7
Lathosterolosis
Ambiguous genitalia, male, Hyperbilirubinemia, Hepatosplenomegaly, Anisopoikilocytosis, Schistocy... OMIM:607330
Renal Hypodysplasia/Aplasia 3
Renal agenesis, Multicystic kidney dysplasia, Renal dysplasia, Abnormality of the uterus, Horsesh... OMIM:617805
Meckel Syndrome, Type 4
Hydrocephalus, Microphthalmia, Atrial septal defect, Cleft palate, Anencephaly, Ventricular septa... OMIM:611134
Cerebrooculofacioskeletal Syndrome 3
Cleft palate, Microphthalmia OMIM:616570
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Proteinu... OMIM:612925
Intellectual Developmental Disorder, Autosomal Dominant 39
Obesity, Hydrocephalus OMIM:616521
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Decreased mean corpuscular volume, Increased circulating ferritin concentration, Hep... OMIM:615234
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Hepatomegaly, Hemophagocytosis, Splenomegaly, Throm... OMIM:603552
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Dandy-Walker malformation OMIM:613153
Neural Tube Defects, Susceptibility To
Myelomeningocele, Hydrocephalus, Anencephaly, Spina bifida occulta OMIM:182940
Trisomy 1Q
Anal atresia, Hydrocephalus, Cleft palate, Congenital megaureter, Multicystic kidney dysplasia, A... ORPHA:261344
Immunodeficiency 14A, Autosomal Dominant
Recurrent sinopulmonary infections, Splenomegaly, T lymphocytopenia, Decreased proportion of clas... OMIM:615513
Marden-Walker Syndrome
High palate, High, narrow palate, Cleft palate, Micropenis, Hypospadias, Pyloric stenosis, Dextro... OMIM:248700
Distal 7Q11.23 Microduplication Syndrome
Hydrocephalus, Frontal encephalocele ORPHA:261102
Mu-Heavy Chain Disease
Hepatomegaly, Bence Jones Proteinuria, Splenomegaly, Nephropathy, Abnormal B cell count, Anemia, ... ORPHA:100024
Fryns Syndrome
High palate, Anal atresia, Ectopic anus, Duodenal atresia, Gastroesophageal reflux, Bicornuate ut... ORPHA:2059
Cockayne Syndrome Type 1
Hepatomegaly, Cryptorchidism, Increased blood urea nitrogen, Anophthalmia, Renal insufficiency, P... ORPHA:90321
Hereditary Renal Hypouricemia
Chronic kidney disease, Increased blood urea nitrogen, Decreased glomerular filtration rate, Abno... ORPHA:94088
Congenital Rubella Syndrome
Hepatomegaly, Atrial septal defect, Splenomegaly, Ventricular septal defect, Aplasia/Hypoplasia o... ORPHA:290
Cat-Eye Syndrome
Anal atresia, Renal hypoplasia/aplasia, Abnormal localization of kidney, Hydronephrosis, Micropht... ORPHA:195
Peroxisome Biogenesis Disorder 5A (Zellweger)
Hepatomegaly, Cleft palate, Splenomegaly, Hepatosplenomegaly, Intrahepatic biliary dysgenesis, Re... OMIM:614866
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Hydrocephalus, Cardiomegaly, Macroorchidism OMIM:300886
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Microphthalmia, Hypoplasia of penis, Abnormality of the upper urinary tract, Hydroureter, Abnorma... ORPHA:2547
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Hepatomegaly, Increased LDL cholesterol concentration, Splenomegaly, Decr... OMIM:607616
Oculocerebrocutaneous Syndrome
Orbital encephalocele, Cleft palate, Anophthalmia, Microphthalmia, Cryptorchidism, Dandy-Walker m... OMIM:164180
Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction
Astrocytosis OMIM:172500
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemolytic anemia, Splen... OMIM:617514
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Hyperinsulinemic hypoglycemia, Steatorrhea, Cirrhosis, Villous atrophy, Renal cyst,... OMIM:602579
Phelan-Mcdermid Syndrome
High palate, Gastroesophageal reflux, Abnormality of the kidney, Ventricular septal defect, Polyc... OMIM:606232
Mental Retardation, Buenos Aires Type
Partial agenesis of the corpus callosum, Failure to thrive, Hydrocephalus OMIM:249630
Meckel Syndrome
Hydrocephalus, Aplasia/Hypoplasia of the tongue, Cleft palate, Anencephaly, Ambiguous genitalia, ... ORPHA:564
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Proteinu... OMIM:612922
Immunodeficiency With Hyper-Igm, Type 5
Recurrent upper and lower respiratory tract infections, Lymphadenopathy, Epididymitis OMIM:608106
Desmoplastic Small Round Cell Tumor
Neoplasm of the pancreas, Ileus, Hepatomegaly, Ovarian neoplasm, Mediastinal lymphadenopathy, Neo... ORPHA:83469
Bronchogenic Cyst
Abnormal stomach morphology, Abnormal pericardium morphology, Abnormal esophagus morphology, Abno... ORPHA:2357
Hydrocephalus, Congenital Communicating, 1
Ventriculomegaly, Communicating hydrocephalus OMIM:618667
Pseudotrisomy 13 Syndrome
Tricuspid atresia, Anal atresia, Hydrocephalus, Atrial septal defect, Bicornuate uterus, Micropen... OMIM:264480
Bone Marrow Failure Syndrome 5
Anemia, Testicular atrophy, Pure red cell aplasia, Hypogonadism OMIM:618165
Pfapa Syndrome
Malabsorption, Hepatomegaly, Splenomegaly, Recurrent pharyngitis, Lymphadenopathy ORPHA:42642
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Impaired platelet aggregation, Menorrhagia, Macrothrombocytopenia, Thrombocytopenia OMIM:124900
Joubert Syndrome 37
High palate, Hepatomegaly, Microphthalmia, Micropenis, Decreased testicular size, Hydronephrosis,... OMIM:619185
Meckel Syndrome, Type 10
Cleft palate, Micropenis, Hypospadias, Anencephaly, Malformation of the hepatic ductal plate, Bif... OMIM:614175
Genitopalatocardiac Syndrome
Abnormal cardiac septum morphology, Gonadal dysgenesis, male, Hydrocephalus, Cleft palate, Hyposp... ORPHA:2075
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Proteinu... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Proteinu... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Proteinu... OMIM:612926
Coach Syndrome 1
Abnormal abdomen morphology, Hepatomegaly, Intrahepatic bile duct dilatation, Splenomegaly, Nephr... OMIM:216360
Pierpont Syndrome
Cryptorchidism, Ventriculomegaly, Microphthalmia ORPHA:487825
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Lymphopenia, Hepatomegaly, Splenomegaly, Aplasia of the thymus, Abnormally low T cell receptor ex... OMIM:602450
Oculogastrointestinal Neurodevelopmental Syndrome
Anal atresia, Bicuspid aortic valve, Vaginal fistula, Unilateral microphthalmos, Horseshoe kidney... OMIM:619318
Pleural Mesothelioma
Hepatomegaly, Abnormal pleura morphology, Pleural effusion, Dysphagia, Abnormal lung morphology, ... ORPHA:50251
Paternal Uniparental Disomy Of Chromosome 1
Episodic hemolytic anemia, Increased blood urea nitrogen, Macroscopic hematuria, Membranoprolifer... ORPHA:251004
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Neutropenia in presence of anti-neutropil antibodies, Fluctuating splenomegaly, Autoimmune thromb... OMIM:619220
Fanconi Anemia, Complementation Group F
Duodenal atresia, Atrial septal defect, Cryptorchidism, Decreased response to growth hormone stim... OMIM:603467
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Anal atresia, Hydrocephalus, Urethral atresia, Atrioventricular canal defect, Tracheoesophageal f... OMIM:314390
Warburg Micro Syndrome 1
Enlarged sylvian cistern, Cryptorchidism, External genital hypoplasia, Microphthalmia OMIM:600118
Hypogonadism, Male
Hypospadias, Testicular atrophy, Male hypogonadism, Micropenis OMIM:241100
Bernard-Soulier Syndrome
Impaired ristocetin-induced platelet aggregation, Menorrhagia, Decreased platelet glycoprotein Ib... ORPHA:274
Symptomatic Form Of Hemochromatosis Type 1
Amenorrhea, Infertility, Cholangiocarcinoma, Testicular atrophy, Hepatomegaly, Decreased serum te... ORPHA:465508
Tetraamelia-Multiple Malformations Syndrome
Anal atresia, Hydrocephalus, Cryptorchidism, Multicystic kidney dysplasia, Abnormal lung lobation... ORPHA:3301
Immunodeficiency With Hyper-Igm, Type 2
Recurrent upper and lower respiratory tract infections, Lymphadenopathy, Recurrent infection of t... OMIM:605258
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Elevated urinary delta-aminolevulinic acid, Jaundice, Splenomegaly OMIM:206400
Hemiparkinsonism-Hemiatrophy Syndrome
Lateral ventricle dilatation ORPHA:306669
Melanosis, Neurocutaneous
Hydrocephalus, Choroid plexus papilloma, Dandy-Walker malformation OMIM:249400
Coach Syndrome 2
Hydrocephalus, Agenesis of corpus callosum OMIM:619111
Dworschak-Punetha Neurodevelopmental Syndrome
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum OMIM:619955
Meckel Syndrome, Type 2
Microphthalmia, Cleft palate, Intestinal malrotation, Anencephaly, Renal cyst, Meningocele, Bile ... OMIM:603194
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Splenomegaly, Increased total bilirubin, Conjugated hyperbilirubinemia, Hypoalbumin... OMIM:619868
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hydrocephalus, Ventriculomegaly OMIM:602501
Pentalogy Of Cantrell
Hydrocephalus, Atrial septal defect, Cleft palate, Abnormal pericardium morphology, Renal agenesi... ORPHA:1335
Hardikar Syndrome
Hepatomegaly, Hypoplasia of the bladder, Cholestasis, Bladder exstrophy, Ventricular septal defec... OMIM:301068
Arima Syndrome
Occipital meningocele, Hepatomegaly, Renal tubular atrophy, Nephronophthisis, Dilated fourth vent... OMIM:243910
Emanuel Syndrome
High palate, Hydrocephalus, Cleft palate, Ventricular septal defect, Hypogonadism, Ectopic anus, ... ORPHA:96170
Trimethylaminuria
Splenomegaly, Recurrent pneumonia, Neutropenia, Trimethylaminuria, Anemia OMIM:602079
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Crohn's disease, Hepatomegaly, Lymphopenia, Splenomegaly, Recurrent upper respiratory tract infec... OMIM:616100
Immunodeficiency 64
Splenomegaly, Cervical lymphadenopathy, Increased proportion autoreactive unresponsive CD21-/low ... OMIM:618534
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Abnormality of the endocrine system, Hypospadias, Increased mean platelet volume, Total anomalous... ORPHA:487796
Immunodeficiency 103, Susceptibility To Fungal Infections
Lymphadenopathy, Decreased serum iron OMIM:212050
Lissencephaly 5
Hydrocephalus, Occipital encephalocele OMIM:615191
Meckel Syndrome, Type 6
Aplasia of the bladder, Hydrocephalus, Cleft palate, Anencephaly, Hepatic cysts, Absent gallbladd... OMIM:612284
Krabbe Disease
Failure to thrive, Hydrocephalus, Increased CSF protein OMIM:245200
Immunodeficiency 97 With Autoinflammation
Increased circulating ferritin concentration, Hemophagocytosis, Decreased proportion of CD4+CD25+... OMIM:619802
Immunodeficiency, Common Variable, 1
Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Splenomegaly, B lymphocytopen... OMIM:607594
Cholestasis-Lymphedema Syndrome
Malabsorption, Hyperlipidemia, Hepatomegaly, Splenomegaly, Cirrhosis, Conjugated hyperbilirubinem... OMIM:214900
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Chronic kidney disease, Hydrocephalus, Hepatomegaly, Nephronophthisis, Splenomegaly, Cholestasis,... OMIM:615630
Temple Syndrome
Obesity, Hydrocephalus, Small for gestational age ORPHA:254516
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Failure to thrive, Gliosis, Increased CSF protein, Astrocytosis OMIM:203700
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Colpocephaly, Ventriculomegaly, Communicating hydrocephalus OMIM:615219
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Hydrocephalus ORPHA:1516
Pierpont Syndrome
Cryptorchidism, Microphthalmia, Micropenis OMIM:602342
Fanconi Anemia, Complementation Group I
Microphthalmia, Decreased response to growth hormone stimulation test, Atrial septal defect, Colp... OMIM:609053
Thrombotic Thrombocytopenic Purpura, Hereditary
Increased blood urea nitrogen, Abnormal renal physiology, Schistocytosis, Microscopic hematuria, ... OMIM:274150
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Hydrocephalus, Micropenis, Renal agenesis, Hypospadias, Renal hypoplasia, Cryptorchidism ORPHA:171839
Purine Nucleoside Phosphorylase Deficiency
Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Splenomegaly, Increased circul... OMIM:613179
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
High palate, Hypocalcemia, Hepatomegaly, Cleft palate, Splenomegaly, Micropenis, Pulmonary lympha... OMIM:235255
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Hepatic cysts OMIM:600666
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Hydrocephalus OMIM:615599
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Colpocephaly OMIM:618731
Heme Oxygenase 1 Deficiency
Increased circulating ferritin concentration, Hepatomegaly, Coombs-positive hemolytic anemia, Nep... OMIM:614034
Immunodeficiency 27A
Histiocytosis, Enlarged mesenteric lymph node, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Th... OMIM:209950
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:175700
X-Linked Parkinsonism-Spasticity Syndrome
Lateral ventricle dilatation, Dilated third ventricle ORPHA:363654
Crouzon Syndrome With Acanthosis Nigricans
Hydrocephalus OMIM:612247
Fanconi Anemia, Complementation Group D2
Hydrocephalus, Hypergonadotropic hypogonadism, Tracheoesophageal fistula, Horseshoe kidney, Micro... OMIM:227646
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Obesity, Hydrocephalus OMIM:601794
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Aortic valve stenosis, Pulmonic stenosis, Cystic renal dysplasia, Cholestasis, Enla... OMIM:615415
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:109120
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies
Renal cyst, Multinodular goiter OMIM:138790
Galactosemia Iii
Hepatomegaly, Aminoaciduria, Splenomegaly, Hypergalactosemia, Galactosuria, Jaundice OMIM:230350
Simpson-Golabi-Behmel Syndrome, Type 2
High palate, Cleft palate, Micropenis, Recurrent upper respiratory tract infections, Multicystic ... OMIM:300209
Williams-Beuren Region Duplication Syndrome
High palate, Hydrocephalus, Decreased response to growth hormone stimulation test, Unilateral ren... OMIM:609757
Lymphoproliferative Syndrome, X-Linked, 2
Increased circulating ferritin concentration, Colitis, Hepatomegaly, Hemophagocytosis, Splenomega... OMIM:300635
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Splenomegaly, Unconjugated hyperbilirubinemia, Incr... ORPHA:766
Holoprosencephaly-Postaxial Polydactyly Syndrome
Anal atresia, Hydrocephalus, Renal hypoplasia/aplasia, Abnormal cardiac septum morphology, Hypopl... ORPHA:2166
Bleeding Disorder, Platelet-Type, 19
Anemia, Menorrhagia, Macrothrombocytopenia OMIM:616176
Developmental And Epileptic Encephalopathy 1
Dysphagia, Microphthalmia, Ventriculomegaly, Micropenis OMIM:308350
Immunodeficiency, Common Variable, 2
Hepatomegaly, Splenomegaly, Follicular hyperplasia, Recurrent sinusitis, Recurrent bronchitis, Re... OMIM:240500
Encephalocraniocutaneous Lipomatosis
Peripheral pulmonary artery stenosis, Hydrocephalus, Atrial septal defect, Ventricular septal def... OMIM:613001
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hydrocephalus, Agenesis of corpus callosum OMIM:617542
Lig4 Syndrome
Malabsorption, Type II diabetes mellitus, Hepatomegaly, Hypoplasia of penis, Leukocytosis, Hypoth... ORPHA:99812
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects
Myelomeningocele, Hydrocephalus, Spina bifida occulta OMIM:183802
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent upper and lower respiratory tract infections, Colitis, Recurrent infection of the gastr... ORPHA:911
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Hydrocephalus ORPHA:83473
Renal Tubular Dysgenesis
Nephropathy, Renotubular dysgenesis, Multiple renal cysts, Tetralogy of Fallot, Pulmonary hypopla... ORPHA:3033
Hemochromatosis Type 2
Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormality of iro... ORPHA:79230
Roberts-Sc Phocomelia Syndrome
High palate, Hydrocephalus, Atrial septal defect, Bicornuate uterus, Cleft palate, Hypospadias, A... OMIM:268300
Meckel Syndrome, Type 9
Ambiguous genitalia, Multicystic kidney dysplasia, Occipital encephalocele OMIM:614209
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Hydrocephalus ORPHA:397951
Roberts Syndrome
High palate, Cleft palate, Long penis, Polycystic kidney dysplasia, Clitoral hypertrophy, Microph... ORPHA:3103
Follicular Lymphoma
Splenomegaly, Mediastinal lymphadenopathy, Abnormality of the peritoneum, Pleural effusion, Lymph... ORPHA:545
Dandy-Walker Malformation With Postaxial Polydactyly
Hydrocephalus, Dilated fourth ventricle, Dandy-Walker malformation OMIM:220220
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation ORPHA:163961
6P22 Microdeletion Syndrome
Hydrocephalus ORPHA:251046
Congenital Muscular Dystrophy, Fukuyama Type
Hydrocephalus, Ventriculomegaly ORPHA:272
Rere-Related Neurodevelopmental Syndrome
Gastroesophageal reflux, Hypospadias, Ventricular septal defect, Ventriculomegaly, Microphthalmia... ORPHA:494344
Lymphangioleiomyomatosis
Abnormal urinary color, Hydrocephalus, Chylopericardium, Chylothorax, Renal neoplasm, Renal angio... ORPHA:538
Congenital Bile Acid Synthesis Defect Type 2
Dark urine, Giant cell hepatitis, Hepatomegaly, Hyperbilirubinemia, Steatorrhea, Extramedullary h... ORPHA:79303
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Hydrocephalus, Webbed neck, Pulmonic stenosis, Cryptorchidism, Hypertrophic cardiomyopathy ORPHA:2701
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:86893
Acrorenal-Mandibular Syndrome
High palate, Absent nipple, Aplasia of the bladder, Narrow palate, Bicornuate uterus, Renal agene... OMIM:200980
Kennedy Disease
Testicular atrophy, Type II diabetes mellitus, Abnormal circulating lipid concentration, Erectile... ORPHA:481
Floating-Harbor Syndrome
Precocious puberty, Gastroesophageal reflux, Cryptorchidism, Epididymal cyst, Atrial septal defec... ORPHA:2044
Cat Eye Syndrome
Tricuspid atresia, Cleft palate, Biliary atresia, Ventricular septal defect, Horseshoe kidney, Mi... OMIM:115470
Cofs Syndrome
Microphthalmia, Hypogonadism ORPHA:1466
Pallister-Hall Syndrome
Cleft palate, Decreased circulating cortisol level, Ventricular septal defect, Anteriorly placed ... OMIM:146510
Ornithine Transcarbamylase Deficiency
Pyloric stenosis, Aminoaciduria, Hyperammonemia, Splenomegaly ORPHA:664
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Hydrocephalus, Anterior encephalocele OMIM:614195
Nephronophthisis 20
Renal cyst, Renal insufficiency, Nephronophthisis, Stage 5 chronic kidney disease OMIM:617271
Renal Dysplasia, Cystic, Susceptibility To
Cystic renal dysplasia, Hyperechogenic kidneys, Renal dysplasia, Renal insufficiency, Vesicourete... OMIM:601331
Orthostatic Hypotension 1
High palate, Hypomagnesemia, Increased blood urea nitrogen, Reduced circulating prolactin concent... OMIM:223360
Nasu-Hakola Disease
Hydrocephalus, Ventriculomegaly ORPHA:2770
Fryns Syndrome
Cleft palate, Ventricular septal defect, Pulmonary hypoplasia, Shawl scrotum, Microphthalmia, Pol... OMIM:229850
Indomethacin Embryofetopathy
Atrial septal defect, Abnormal renal tubule morphology, Multicystic kidney dysplasia, Nephropathy... ORPHA:1909
Meckel Syndrome, Type 3
Hydrocephalus, Hepatomegaly, Cleft palate, Multicystic kidney dysplasia, Malformation of the hepa... OMIM:607361
Hemochromatosis, Neonatal
Increased circulating ferritin concentration, Abnormality of iron homeostasis, Increased serum iron OMIM:231100
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hyperlipidemia, Increased blood urea nitrogen, Schistocytosis, Elevated circulating creatinine co... OMIM:235400
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatomegaly, Hepatocellular adenoma, Cholestasis, Esophageal varix, Polycystic ovaries, Portal f... ORPHA:370
Rhyns Syndrome
Hypopituitarism, Multicystic kidney dysplasia, Abnormality of the liver, Nephronophthisis ORPHA:140976
Progressive Familial Intrahepatic Cholestasis
Malabsorption, Hypocalcemia, Hepatomegaly, Splenomegaly, Cholestasis, Jaundice ORPHA:172
Chromosome 13Q33-Q34 Deletion Syndrome
High palate, Anal atresia, Bifid scrotum, Encephalocele, Hypospadias, Left ventricular hypertroph... OMIM:619148
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Elevated circulating creatine kinase concentration, Decreased fertility OMIM:313200
Hyperbilirubinemia, Shunt, Primary
Anemia of inadequate production, Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Reticulocytosis,... OMIM:237800
Chiari Malformation Type Ii
Myelomeningocele, Hydrocephalus, Spina bifida, Agenesis of corpus callosum, Cervical myelopathy OMIM:207950
Pagod Syndrome
Renal hypoplasia/aplasia, Hypoplastic left heart, Agonadism, Multicystic kidney dysplasia, Abnorm... ORPHA:991
Thomas Syndrome
Renal hypoplasia/aplasia, Multicystic kidney dysplasia, Hypoplastic left heart, Cleft palate ORPHA:3316
Legionnaires Disease
Pancreatitis, Lymphopenia, Splenomegaly, Endocarditis, Hematuria, Abnormal pleura morphology, Myo... ORPHA:549
Intellectual Developmental Disorder, Autosomal Dominant 36
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:616362
Paroxysmal Nocturnal Hemoglobinuria
Odynophagia, Impotence, Hemoglobinuria, Glycosuria, Proteinuria, Reduced haptoglobin level, Pancy... ORPHA:447
Whipple Disease
Malabsorption, Hydrocephalus, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Myocarditi... ORPHA:3452
Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia
Hydrocephalus OMIM:600991
Kaposiform Lymphangiomatosis
Lymphangioma, Splenomegaly, Metrorrhagia, Abnormal spleen morphology, Hepatosplenomegaly, Abnorma... ORPHA:464329
Systemic Sclerosis
Myocarditis, Proteinuria, Pericarditis, Albuminuria, Abnormal large intestine morphology, Elevate... ORPHA:90291
Nephronophthisis 18
Hydrocephalus, Renal tubular atrophy, Nephronophthisis, Cholestasis, Thickened glomerular basemen... OMIM:615862
Mixed Connective Tissue Disease
Gastroesophageal reflux, Gastritis, Hepatomegaly, Splenomegaly, Leukopenia, Xerostomia, Mediastin... ORPHA:809
Tyrosinemia Type 1
Generalized aminoaciduria, Hepatocellular carcinoma, Hepatomegaly, Splenomegaly ORPHA:882
Congenital Bile Acid Synthesis Defect Type 1
Malabsorption, Hepatomegaly, Splenomegaly, Cirrhosis, Biliary tract abnormality, Gastrointestinal... ORPHA:79301
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Recurrent tonsillitis, Splenomegaly, Microcytic anemia, Lymphadenopathy OMIM:618852
Kleefstra Syndrome
Bicuspid aortic valve, Gastroesophageal reflux, Hypoplasia of penis, Macroglossia, Micropenis, Cr... ORPHA:261494
Meckel Syndrome, Type 7
Atrial septal defect, Aortic valve stenosis, Dandy-Walker malformation, Right ventricular hypertr... OMIM:267010
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Recurrent gastroenteritis, Gastritis, Decreased prealbumin level, Type I diabetes mellitus, Pneum... ORPHA:37042
Neurooculocardiogenitourinary Syndrome
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Microphthalmia, Bilateral ... OMIM:618652
Immunodeficiency 54
Adrenal insufficiency, Adrenocorticotropic hormone excess, Hepatomegaly, Splenomegaly, Lymphadeno... OMIM:609981
Czeizel-Losonci Syndrome
High palate, Myelomeningocele, Hydrocephalus, Congenital megaureter, Tracheoesophageal fistula, A... ORPHA:2437
Rhabdoid Tumor