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
small kidney Pdcd6ipem1(IMPC)Mbp HOM Late adult 0.00
polycystic kidney Pdcd6ipem1(IMPC)Mbp HOM Late adult 0.00
abnormal stomach morphology Pdcd6ipem1(IMPC)Mbp HOM Late adult 0.00
decreased body length Pdcd6ipem1(IMPC)Mbp HOM Early adult 7.30×10-05
abnormal seminal vesicle morphology Pdcd6ipem1(IMPC)Mbp HOM Late adult 0.00
small heart Pdcd6ipem1(IMPC)Mbp HOM Early adult 0.00
enlarged stomach Pdcd6ipem1(IMPC)Mbp HOM Late adult 0.00
abnormal skin morphology Pdcd6ipem1(IMPC)Mbp HOM Late adult 0.00
enlarged lymph nodes Pdcd6ipem1(IMPC)Hmgu HOM Late adult 0.00
decreased circulating bilirubin level Pdcd6ipem1(IMPC)Mbp HOM Late adult 1.05×10-05
enlarged lymph nodes Pdcd6ipem1(IMPC)Mbp HOM Late adult 0.00
small testis Pdcd6ipem1(IMPC)Mbp HOM Late adult 0.00
decreased brain size Pdcd6ipem1(IMPC)Mbp HOM Late adult 0.00
abnormal testis morphology Pdcd6ipem1(IMPC)Mbp HOM Late adult 0.00
increased mean platelet volume Pdcd6ipem1(IMPC)Mbp HOM   Early adult 4.57×10-05
small testis Pdcd6ipem1(IMPC)Mbp HOM Early adult 0.00
decreased heart weight Pdcd6ipem1(IMPC)Mbp HOM Late adult 6.55×10-11
decreased body length Pdcd6ipem1(IMPC)Mbp HOM Late adult 2.41×10-05
microphthalmia Pdcd6ipem1(IMPC)Mbp HOM Late adult 0.00
thick skin Pdcd6ipem1(IMPC)Mbp HOM Late adult 0.00
decreased food intake Pdcd6ipem1(IMPC)Hmgu HOM   Late adult 1.30×10-05
abnormal spleen morphology Pdcd6ipem1(IMPC)Mbp HOM Late adult 0.00
decreased brain weight Pdcd6ipem1(IMPC)Mbp HOM   Early adult 8.32×10-42
abnormal lung morphology Pdcd6ipem1(IMPC)Mbp HOM Late adult 0.00
abnormal eye morphology Pdcd6ipem1(IMPC)Mbp HOM Late adult 0.00
abnormal brain morphology Pdcd6ipem1(IMPC)Mbp HOM Early adult 0.00
preweaning lethality, incomplete penetrance Pdcd6ipem1(IMPC)Mbp HOM   Early adult 0.00
abnormal brain morphology Pdcd6ipem1(IMPC)Mbp HOM Late adult 0.00
abnormal kidney morphology Pdcd6ipem1(IMPC)Mbp HOM Late adult 0.00
hydrocephaly Pdcd6ipem1(IMPC)Mbp HOM Late 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
enlarged seminal vesicle Pdcd6ipem1(IMPC)Mbp HOM Late adult 0.00
abnormal testis morphology Pdcd6ipem1(IMPC)Mbp HOM Early adult 0.00
increased grip strength Pdcd6ipem1(IMPC)Mbp HOM Late adult 4.14×10-05
abnormal heart morphology Pdcd6ipem1(IMPC)Mbp HOM Early adult 0.00
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
increased blood urea nitrogen level Pdcd6ipem1(IMPC)Mbp HOM Late adult 3.46×10-05
decreased brain size Pdcd6ipem1(IMPC)Mbp HOM Early adult 0.00

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

48 Images

X-ray

XRay Images Whole Body Lateral Orientation

16 Images

X-ray

XRay Images Whole Body Dorso Ventral

48 Images

X-ray

XRay Images Whole Body Lateral Orientation

16 Images

Histopathology

Images

8 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
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
Chudley-Mccullough Syndrome
Partial agenesis of the corpus callosum, Hydrocephalus, Ventriculomegaly, Dysplastic corpus callosum OMIM:604213
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Hydrocephalus, Ventriculomegaly OMIM:615938
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Bleeding Disorder, Platelet-Type, 24
Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation... OMIM:619271
Meckel Syndrome, Type 8
Ambiguous genitalia, Encephalocele, Anophthalmia, Pericardial effusion, Enlarged kidney, Polycyst... OMIM:613885
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hydrocephalus, Ventriculomegaly OMIM:615937
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus, Agenesis of corpus callosum OMIM:166990
Papilloma Of Choroid Plexus
Hydrocephalus, Choroid plexus papilloma ORPHA:2807
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Enlarged kidney, Polycystic kidney dysplasia, Hepatosplenomegaly,... OMIM:617610
Pineocytoma
Hydrocephalus, Increased CSF protein concentration ORPHA:251912
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus ORPHA:2703
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Hydrocephalus, Ventriculomegaly OMIM:618709
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
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Leu... OMIM:155100
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Hydrocephalus, Dandy-Walker malformation ORPHA:1538
Bleeding Disorder, Platelet-Type, 16
Anemia, Impaired platelet aggregation, Thrombocytopenia, Giant platelets, Platelet anisocytosis, ... OMIM:187800
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Slender build, Astrocytosis, Ventriculomegaly OMIM:611087
Renal-Hepatic-Pancreatic Dysplasia 1
Asplenia, Biliary cirrhosis, Renal dysplasia, Malformation of the hepatic ductal plate, Pulmonary... OMIM:208540
Alg13-Cdg
Abnormal lateral ventricle morphology, Decreased body weight ORPHA:324422
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Pancreatic cysts, Hepatic fibrosis, Multiple small medullary renal cysts, Periportal fibrosis, En... OMIM:263200
Edinburgh Malformation Syndrome
Failure to thrive, Hydrocephalus OMIM:129850
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Dandy-Walker malformation OMIM:123155
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy, Esophageal carcinoma ORPHA:99977
Lissencephaly 4
Agenesis of corpus callosum, Colpocephaly OMIM:614019
Thrombocytopenia With Beta-Thalassemia, X-Linked
Splenomegaly, Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Thrombocytopen... OMIM:314050
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus ORPHA:99966
Beemer Lethal Malformation Syndrome
Hydrocephalus OMIM:209970
Bleeding Disorder, Platelet-Type, 15
Platelet anisocytosis, Thrombocytopenia, Increased mean platelet volume OMIM:615193
Pulmonary Nodular Lymphoid Hyperplasia
Plasmacytosis, Follicular hyperplasia, Nodular pattern on pulmonary HRCT, Mediastinal lymphadenop... ORPHA:60026
Masa Syndrome
Hydrocephalus, Ventriculomegaly, Agenesis of corpus callosum OMIM:303350
Nephronophthisis 16
Periportal fibrosis, Stage 5 chronic kidney disease, Enlarged kidney, Polycystic kidney dysplasia... OMIM:615382
Bernard-Soulier Syndrome
Macrothrombocytopenia, Menorrhagia, Giant platelets, Thrombocytopenia, Impaired ristocetin-induce... OMIM:231200
Hepatic Venoocclusive Disease With Immunodeficiency
Absence of lymph node germinal center, Abnormality of the liver, Endocardial fibrosis OMIM:235550
Band Heterotopia
Agenesis of corpus callosum, Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:600348
Congenital Disorder Of Glycosylation, Type Iid
Hydrocephalus, Dandy-Walker malformation OMIM:607091
Femoral-Facial Syndrome
Ventriculomegaly, Renal hypoplasia/aplasia, Polycystic kidney dysplasia, Maternal diabetes, Long ... ORPHA:1988
Bardet-Biedl Syndrome 16
Hypogonadism, Renal dysplasia, External genital hypoplasia, Stage 5 chronic kidney disease, Renal... OMIM:615993
Myh9-Related Disease
Menorrhagia, Giant platelets, Congenital thrombocytopenia, Neutrophil inclusion bodies, Increased... ORPHA:182050
Meckel Syndrome, Type 1
Asplenia, Hypoplasia of the bladder, Ventriculomegaly, Ambiguous genitalia, female, Abnormal card... OMIM:249000
Peroxisome Biogenesis Disorder 2A (Zellweger)
Aminoaciduria, Hypoplasia of the thymus, Polycystic kidney dysplasia, Jaundice, Elevated circulat... OMIM:214110
Combined Oxidative Phosphorylation Deficiency 34
Elevated circulating thyroid-stimulating hormone concentration, Pancytopenia, Primary adrenal ins... OMIM:617872
Distal Tetrasomy 15Q
Nephroblastoma, High palate, Abnormality of the kidney, Polycystic kidney dysplasia, Hydrocephalu... ORPHA:314588
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Ventriculomegaly, Renal dysplasia, Elevated circulating creatine kinase concentration, Hepatic ca... OMIM:608836
Carcinoma Of Esophagus
Gastroesophageal reflux, Esophageal neoplasm, Lymphadenopathy, Abnormal intestine morphology, Dys... ORPHA:70482
Dandy-Walker Syndrome
Dilated fourth ventricle, Hydrocephalus OMIM:220200
1Q21.1 Microduplication Syndrome
Gastroesophageal reflux, Hydrocephalus, Hypospadias, Cryptorchidism, Tetralogy of Fallot ORPHA:250994
Bleeding Disorder, Platelet-Type, 21
Impaired ADP-induced platelet aggregation, Impaired platelet aggregation, Menorrhagia, Thrombocyt... OMIM:617443
Hyperparathyroidism 2 With Jaw Tumors
Pancreatic adenocarcinoma, Nephroblastoma, Recurrent pancreatitis, Parathyroid adenoma, Papillary... OMIM:145001
Platelet Glycoprotein Iv Deficiency
Thrombocytopenia, Giant platelets OMIM:608404
Epilepsy, Pyridoxine-Dependent
Hydrocephalus OMIM:266100
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Elevated circulating acylcarnitine concentration, Ventriculomegaly, Dicarboxylic aciduria, Elevat... ORPHA:228308
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Pancreatic cysts, Pancreatic hypoplasia, Hepatic fibrosis, Elevated circulating thyroid-stimulati... OMIM:610199
Congenital Disorder Of Glycosylation, Type Il
Abnormal cardiac septum morphology, Pericardial effusion, Polycystic kidney dysplasia, Hepatosple... OMIM:608776
Methylmalonic Acidemia With Homocystinuria
Failure to thrive, Hydrocephalus ORPHA:26
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly, Abnormality of the gastrointestinal tract ORPHA:52416
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus ORPHA:1008
Caroli Disease
Biliary cirrhosis, Hepatic fibrosis, Cirrhosis, Periportal fibrosis, Liver abscess, Polycystic ki... ORPHA:53035
Hereditary Amyloidosis With Primary Renal Involvement
Abnormal lymph node morphology, Renal tubular atrophy, Abnormal testis morphology, Hepatosplenome... ORPHA:85450
Giant platelet syndrome with thrombocytopenia
Thrombocytopenia, Giant platelets OMIM:137560
Holoprosencephaly 5
Syntelencephaly, Lateral ventricle dilatation, Hydrocephalus, Semilobar holoprosencephaly, Lobar ... OMIM:609637
Gillessen-Kaesbach-Nishimura Syndrome
Periportal fibrosis, Bicornuate uterus, Polycystic kidney dysplasia, Abnormal lung lobation, Pulm... OMIM:263210
Autosomal Recessive Polycystic Kidney Disease
Fat malabsorption, Cholangiocarcinoma, Pulmonary hypoplasia, Hepatosplenomegaly, Hepatoblastoma, ... ORPHA:731
Bardet-Biedl Syndrome 10
Renal cyst, Renal insufficiency, Hypogonadism OMIM:615987
Peroxisome Biogenesis Disorder 5A (Zellweger)
Hepatosplenomegaly, Intrahepatic biliary dysgenesis, Hepatomegaly, Cleft palate, Renal cortical m... OMIM:614866
Burkitt Lymphoma
Abnormal lymph node morphology, Abnormality of the pancreas, Abnormality of the liver, Hyperurice... ORPHA:543
Caroli Syndrome
Cholangiocarcinoma, Hepatomegaly, Hematemesis, Abnormality of the ductus choledochus, Thrombocyto... ORPHA:480520
Congenital Hydrocephalus
Hydrocephalus, Ventriculomegaly, Colpocephaly ORPHA:2185
Fanconi Anemia, Complementation Group R
Hydrocephalus OMIM:617244
46,Xy Sex Reversal 4
Hydronephrosis, High palate, Sex reversal, Renal dysplasia, Hypoplastic labia majora, Agonadism, ... OMIM:154230
Adenocarcinoma Of The Esophagus
Gastroesophageal reflux, Lymphadenopathy, Barrett esophagus, Esophageal carcinoma ORPHA:99976
Pelger-Huet Anomaly
Ventricular septal defect, Hyposegmentation of neutrophil nuclei, Abnormality of neutrophils, Gia... OMIM:169400
Pontocerebellar Hypoplasia, Type 15
Partial agenesis of the corpus callosum, Hydrocephalus, Agenesis of corpus callosum OMIM:619302
Matthew-Wood Syndrome
Vesicoureteral reflux, Aplasia/Hypoplasia of the pancreas, Anophthalmia, Annular pancreas, Abnorm... ORPHA:2470
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, ... OMIM:613095
Alpha-1-Antitrypsin Deficiency
Cirrhosis, Reduced serum alpha-1-antitrypsin, Chronic bronchitis, Bronchiectasis, Hepatocellular ... OMIM:613490
Syndromic Diarrhea
Hypothyroidism, Hypoplasia of the thymus, Abnormality of iron homeostasis, Hepatoblastoma, Gastri... ORPHA:84064
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Ventriculomegaly, Ventricular septal defect, Cystic renal dysplasia, Ectopic kidney, Microphthalm... OMIM:613730
Hereditary Progressive Mucinous Histiocytosis
Lymphadenopathy, Mucinous histiocytosis ORPHA:158025
Interstitial Nephritis, Karyomegalic
Tubulointerstitial nephritis, Renal interstitial fibrosis, Renal tubular cyst, Glycosuria, Stage ... OMIM:614817
Immunodeficiency 104
Gastroesophageal reflux, T lymphocytopenia, Lymphadenopathy, Hepatomegaly, Pneumonia, Splenomegaly OMIM:608971
Hydrocephalus, Congenital, 3, With Brain Anomalies
Ventriculomegaly, Hydrocephalus, Hydranencephaly, Holoprosencephaly, Dandy-Walker malformation OMIM:617967
Prune Belly Syndrome
Congenital posterior urethral valve, Abnormality of the bladder, Abnormality of the ureter, Intes... ORPHA:2970
Syndromic Recessive X-Linked Ichthyosis
Hypogonadism, Testicular seminoma, Abnormal stomach morphology, Unilateral renal agenesis, Crypto... ORPHA:281090
Polyrrhinia
Abnormal third ventricle morphology, Lateral ventricle dilatation ORPHA:141091
Diencephalic Syndrome
Cachexia, Decreased body weight, Hydrocephalus ORPHA:1672
Kleeblattschaedel
Hydrocephalus OMIM:148800
RCAD (renal cysts and diabetes)
Diabetes mellitus, Abnormality of the liver, Multiple renal cysts DECIPHER:47
Dextrocardia
Pancreatic hypoplasia, Abnormal pulmonary situs morphology, Webbed neck, Abnormality of abdominal... ORPHA:1666
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Hydrocephalus, Ventriculomegaly OMIM:614830
Hydrolethalus Syndrome 2
Anencephaly, Hydrocephalus, Ventriculomegaly, Agenesis of corpus callosum OMIM:614120
Axial Mesodermal Dysplasia Spectrum
Gastroesophageal reflux, Morphological abnormality of the gastrointestinal tract, Anorectal anoma... ORPHA:1834
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Hepatocellular carcinoma, Acute lymphoblastic leukemia, Hepatosplenomegal... ORPHA:158057
Thrombocytopenia 4
Thrombocytopenia, Abnormal platelet volume OMIM:612004
Peroxisome Biogenesis Disorder 3A (Zellweger)
Polycystic kidney dysplasia, Hepatomegaly OMIM:614859
Trisomy 17P
High palate, Polycystic kidney dysplasia, Hydrocephalus, Hypoplasia of penis, Macroglossia, Hypop... ORPHA:261290
Sitosterolemia 1
Stomatocytosis, Hypercholesterolemia, Anemia, Reduced haptoglobin level, Reticulocytosis, Impaire... OMIM:210250
Gombo Syndrome
Abnormal heart morphology, Delayed puberty, Microphthalmia OMIM:233270
Sporadic Creutzfeldt-Jakob Disease
Astrocytosis, Gliosis, Increased CSF protein concentration ORPHA:204
Developmental And Epileptic Encephalopathy 49
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:617281
22Q11.2 Deletion Syndrome
Meningocele, Hypothyroidism, Hypoplasia of the thymus, Truncus arteriosus, Hypoparathyroidism, Ab... ORPHA:567
Infantile Sialic Acid Storage Disease
High palate, Nephrotic syndrome, Hydrocephalus, Hepatomegaly, Cardiomegaly, Ascites, Vacuolated l... OMIM:269920
Hepatorenocardiac Degenerative Fibrosis
Cirrhosis, Renal interstitial fibrosis, Hypersplenism, Enlarged kidney, Jaundice, Hepatocellular ... OMIM:619902
Central Precocious Puberty
Hypothalamic hamartoma, Obesity, Hydrocephalus, Increased body weight ORPHA:759
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Biemond Syndrome Ii
Hydrocephalus OMIM:210350
Nephronophthisis 14
Nephronophthisis, Polycystic kidney dysplasia, Situs inversus totalis OMIM:614844
Campomelia, Cumming Type
Pancreatic cysts, Polysplenia, Polycystic liver disease, Polycystic kidney dysplasia OMIM:211890
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hepatic fibrosis, High palate, Polycystic kidney dysplasia, Pulmonary hypoplasia, Renal cyst, Hyp... OMIM:614091
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Abnormal lymph node morphology, Renal oncocytoma, Papillary renal cell carcinoma, Nodular goiter,... ORPHA:97290
Congenital Toxoplasmosis
Anemia, Ventriculomegaly, Ascites, Jaundice, Hydrocephalus, Lymphadenopathy, Microphthalmia, Hepa... ORPHA:858
Carnitine Palmitoyltransferase Ii Deficiency
Tubulointerstitial nephritis, Elevated circulating acylcarnitine concentration, Decreased plasma ... ORPHA:157
Cystic Echinococcosis
Abnormal subpleural morphology, Peritoneal abscess, Abnormality of the pancreas, Abnormality of t... ORPHA:400
Corpus Callosum, Partial Agenesis Of, X-Linked
Partial agenesis of the corpus callosum, Hydrocephalus OMIM:304100
Slc35A1-Cdg
Thrombocytopenia, Neutropenia, Abnormal platelet granules, Giant platelets ORPHA:238459
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Multiple Acyl-Coa Dehydrogenase Deficiency
Cardiomyopathy, Elevated circulating acylcarnitine concentration, Polycystic kidney dysplasia, De... ORPHA:26791
Takenouchi-Kosaki Syndrome
Abnormal cardiac septum morphology, Increased mean platelet volume, Hypospadias, Cryptorchidism, ... OMIM:616737
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Stomatocytosis, Splenomegaly, Impaired collagen-related peptide-induced platelet aggregation, Hem... OMIM:153670
Meckel Syndrome 14
Ambiguous genitalia, Hepatic fibrosis, Pneumothorax, Polycystic kidney dysplasia, Pulmonary hypop... OMIM:619879
Peroxisome Biogenesis Disorder 6A (Zellweger)
Colpocephaly OMIM:614870
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy OMIM:616126
Igg4-Related Retroperitoneal Fibrosis
Impotence, Psoriasiform dermatitis, Retrograde ejaculation, Acute kidney injury, Normocytic anemi... ORPHA:49041
Focal Cortical Dysplasia, Type Ii
Astrocytosis OMIM:607341
Diabetic Embryopathy
Aplasia/Hypoplasia affecting the eye, Spinal dysraphism, Abnormality of the pancreas, Ventricular... ORPHA:1926
Central Neurocytoma
Hydrocephalus, Abnormal lateral ventricle morphology ORPHA:73256
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Agenesis of corpus callosum, Colpocephaly ORPHA:250972
Alpha-Heavy Chain Disease
Anemia, Malabsorption, Premature ovarian insufficiency, Ascites, Lymphadenopathy, Hepatomegaly, A... ORPHA:100025
Familial Infantile Bilateral Striatal Necrosis
Failure to thrive, Astrocytosis, Basal ganglia gliosis ORPHA:225154
Autoimmune Lymphoproliferative Syndrome, Type Iii
Generalized lymphadenopathy, Recurrent sinusitis, Hepatosplenomegaly, Hepatomegaly, Splenomegaly,... OMIM:615559
Meckel Syndrome, Type 11
Occipital encephalocele, Polycystic kidney dysplasia OMIM:615397
Bardet-Biedl Syndrome 4
Hypogonadism, External genital hypoplasia, Abnormality of the kidney, Renal cyst, Cryptorchidism OMIM:615982
Mosaic Trisomy 9
Asplenia, Ventriculomegaly, Renal dysplasia, Cleft palate, Endocardial fibroelastosis, Abnormal l... ORPHA:99776
Microphthalmia, Syndromic 12
Ventricular septal defect, Anophthalmia, Bicornuate uterus, Hypoplastic left atrium, Pulmonary hy... OMIM:615524
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Recurrent respiratory infections, Microphthalmia, Hepatomegaly, Median cleft palate ORPHA:2432
Familial Papillary Or Follicular Thyroid Carcinoma
Abnormal lymph node morphology, Papillary renal cell carcinoma, Nodular goiter, Colon cancer, Fol... ORPHA:319487
Biemond Syndrome Type 2
Hypogonadism, Hydrocephalus, Hypospadias, Delayed puberty, Microphthalmia, Hypogonadotropic hypog... ORPHA:141333
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Anemia, Abnormal pulmonary interstitial morphology, Recurrent sinusitis, Hepatosplenomegaly, Lymp... OMIM:613101
Hemochromatosis, Type 1
Cirrhosis, Increased serum iron, Impotence, Hepatocellular carcinoma, Azoospermia, Pleural effusi... OMIM:235200
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Colonic diverticula, Polycystic kidney dysplasia, Mitral valve prolapse, Hepatic cysts, Renal ins... OMIM:173900
Nphp3-Related Meckel-Like Syndrome
Multicystic kidney dysplasia, Abnormality of the pancreas, Renal dysplasia, Pulmonary hypoplasia,... ORPHA:3032
Meckel Syndrome 13
Occipital encephalocele, Polycystic kidney dysplasia OMIM:617562
Multiple Acyl-Coa Dehydrogenase Deficiency
Proximal tubulopathy, Renal cortical cysts, Glycosuria, Polycystic kidney dysplasia, Jaundice, Pu... OMIM:231680
Developmental And Epileptic Encephalopathy 36
Hydrocephalus OMIM:300884
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Thrombocytopenia, Increased mean platelet volume OMIM:300048
Bresek Syndrome
Vesicoureteral reflux, Hypoplasia of the bladder, Renal dysplasia, Decreased testicular size, Aga... ORPHA:85284
Congenital Disorder Of Glycosylation, Type Iig
Anemia, Giant platelets, Left ventricular hypertrophy, Hypospadias, Cryptorchidism, Thrombocytopenia OMIM:611209
Microgastria-Limb Reduction Defect Syndrome
Truncus arteriosus, Renal dysplasia, Hepatomegaly, Multicystic kidney dysplasia, Anophthalmia, Es... ORPHA:2538
Unilateral Hemispheric Polymicrogyria
Lateral ventricle dilatation ORPHA:101071
Martsolf Syndrome 2
Decreased body weight, Lateral ventricle dilatation OMIM:619420
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Vesicoureteral reflux, Renal dysplasia, Polycystic kidney dysplasia, Hypocalcemia, Unilateral ren... ORPHA:2237
Fried Syndrome
Hydrocephalus ORPHA:85335
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormal lymph node morphology, Anemia, Abnormality of the pancreas, Abnormal testis morphology, ... ORPHA:54251
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Poikilocytosis, Anisocytosis, Cryptorchidism, Hypochromic anemia, Macrothrombocytopenia, Anemia o... ORPHA:67044
Branchiootorenal Syndrome 1
Renal steatosis, Vesicoureteral reflux, High palate, Renal dysplasia, Renal malrotation, Polycyst... OMIM:113650
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Occipital encephalocele, Hydrocephalus, Ventriculomegaly ORPHA:324416
Pettigrew Syndrome
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:304340
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hydrocephalus OMIM:619470
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Respiratory tract infection, Hemolytic anemia, Hepatitis, Lymphopenia, Autoimmune thrombocytopeni... ORPHA:444463
Fanconi Anemia, Complementation Group O
External genital hypoplasia, Stage 5 chronic kidney disease, Anal atresia, Renal cyst, Abnormal h... OMIM:613390
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Abnormal lateral ventricle morphology ORPHA:488635
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Leukopenia, Anemia, Hyperuricemia, Renal salt wasting, Pancytopenia, Diabetes mellitus, Increased... OMIM:613845
Gómez-López-Hernández Syndrome
Hydrocephalus ORPHA:1532
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus OMIM:258320
Isolated Polycystic Liver Disease
Increased total bilirubin, Gastroesophageal reflux, Abnormality of the pancreas, Polycystic liver... ORPHA:2924
Congenital Fibrinogen Deficiency
Hemorrhagic ovarian cyst, Decreased testicular size, Volvulus, Left ventricular hypertrophy, Sple... ORPHA:335
Mmep Syndrome
Ventricular septal defect, Microphthalmia, Cryptorchidism ORPHA:3434
Laryngeal Neuroendocrine Tumor
Adrenocorticotropic hormone excess, Increased serum serotonin, Neuroendocrine neoplasm, Elevated ... ORPHA:100083
Polycystic Kidney Disease 7
Renal interstitial fibrosis, Stage 5 chronic kidney disease, Renal atrophy, Multiple renal cysts,... OMIM:620056
Craniotelencephalic Dysplasia
Arrhinencephaly, Hydrocephalus, Frontal encephalocele, Agenesis of corpus callosum ORPHA:1528
Triploidy
Meningocele, Ambiguous genitalia, Abnormality of the pancreas, Aplasia/Hypoplasia affecting the e... ORPHA:3376
Intellectual Developmental Disorder, X-Linked 103
Lateral ventricle dilatation OMIM:300982
Intellectual Developmental Disorder, Autosomal Recessive 68
Small for gestational age, Hydrocephalus OMIM:618302
Trichohepatoenteric Syndrome 1
Hypermethioninemia, Splenomegaly, Increased serum iron, Abnormality of iron homeostasis, Ventricu... OMIM:222470
Peutz-Jeghers Syndrome
Esophageal neoplasm, Biliary tract neoplasm, Abnormality of the ureter, Intestinal obstruction, C... ORPHA:2869
Immunodeficiency 75 With Lymphoproliferation
Bronchiectasis, Hepatosplenomegaly, Lymphadenopathy, Follicular hyperplasia, Decreased proportion... OMIM:619126
Hepatoportal Sclerosis
Nodular regenerative hyperplasia of liver, Leukopenia, Anemia, Periportal fibrosis, Hypersplenism... ORPHA:64743
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Ventriculomegaly, Polycystic kidney dysplasia, Hydrocephalus, Choroid plexus cyst, Intestinal mal... OMIM:617866
Autosomal Recessive Spastic Paraplegia Type 66
Colpocephaly ORPHA:401815
Mirage Syndrome
Achalasia, Adrenal insufficiency, Hyponatremia, Thrombocytopenia, Aspiration pneumonia, Shawl scr... OMIM:617053
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Ambiguous genitalia, Hepatic fibrosis, Ventricular septal defect, Lateral ventricle dilatation, P... OMIM:263520
Frontal Encephalocele
Spina bifida, Hydrocephalus, Encephalocele ORPHA:1931
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Astrocytosis OMIM:600795
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Vesicoureteral reflux, Ventricular septal defect, Renal hypoplasia/aplasia, Abnormality of the pu... ORPHA:1166
Reticuloendotheliosis, X-Linked
Jaundice, Lymphadenopathy, Anemia, Hepatosplenomegaly OMIM:312500
Short Rib-Polydactyly Syndrome
Urogenital sinus anomaly, Hepatic fibrosis, Hepatic cysts, Abnormality of the liver, Gastrointest... ORPHA:1505
Odontochondrodysplasia 1
Nephronophthisis, Polycystic kidney dysplasia, Recurrent respiratory infections, Pulmonary hypopl... OMIM:184260
Craniofacial Dyssynostosis With Short Stature
Ventriculomegaly, Ventricular septal defect, Pyloric stenosis, Hydrocephalus, Hypospadias, Horses... OMIM:218350
Pyruvate Dehydrogenase E1-Alpha Deficiency
Basal ganglia gliosis, Ventriculomegaly, Lateral ventricle dilatation, Small for gestational age,... ORPHA:79243
Mckusick-Kaufman Syndrome
Vesicovaginal fistula, Hydroureter, Hydrometrocolpos, Transverse vaginal septum, Polycystic kidne... OMIM:236700
Microcephaly-Microcornea Syndrome, Seemanova Type
High palate, Microphthalmia, Hypogonadism ORPHA:2528
Cholestasis, Progressive Familial Intrahepatic, 12
Jaundice, Hyperbilirubinemia, Cholestasis, Hepatomegaly, Increased serum bile acid concentration,... OMIM:620010
Kerion Celsi
Lymphadenopathy ORPHA:499
Drug-Induced Lupus Erythematosus
Anemia, Pericardial effusion, Hematuria, Elevated circulating creatine kinase concentration, Peri... ORPHA:231111
Acalvaria
Spina bifida, Holoprosencephaly, Hydrocephalus ORPHA:945
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Hyperleucinemia, Increased blood urea nitrogen, Hyperammonemia, Hypervalinemia, Hyperisoleucinemia OMIM:620085
H Syndrome
Hypertriglyceridemia, Hypogonadism, Bronchiectasis, Decreased testicular size, Enlarged kidney, A... ORPHA:168569
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Holoprosencephaly, Hydrocephalus, Aqueductal stenosis, Agenesis of corpus callosum ORPHA:2182
Pontocerebellar Hypoplasia, Type 12
Lateral ventricle dilatation OMIM:618266
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Decreased proportion of marginal zone B cells, Coombs-positive hemolytic anemia, Thyroiditis, Aut... OMIM:619375
Distal Monosomy 12Q
Vesicoureteral reflux, Biliary atresia, Patent foramen ovale, Congenital hypertrophy of left vent... ORPHA:96149
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Ambiguous genitalia, Bifid tongue, Renal dysplasia, Enlarged kidney, Polycystic kidney dysplasia,... OMIM:613091
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Hydrocephalus, Ventriculomegaly, Agenesis of corpus callosum OMIM:618577
Xk Aprosencephaly Syndrome
Ventricular septal defect, Anal atresia, Atrial septal defect, Microphthalmia, Abnormal external ... ORPHA:3469
Inherited Creutzfeldt-Jakob Disease
Astrocytosis, Increased CSF protein concentration ORPHA:282166
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Occipital encephalocele, Hydrocephalus ORPHA:352682
Hydrocephalus-Obesity-Hypogonadism Syndrome
Obesity, Azoospermia, Hydrocephalus ORPHA:2183
Immunodeficiency 76
T lymphocytopenia, B lymphocytopenia, Lymphopenia, Recurrent pneumonia, Lymphadenopathy, Colitis,... OMIM:619164
Alexander Disease Type I
Failure to thrive, Cachexia, Hydrocephalus ORPHA:363717
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Anemia, Renal hypoplasia/aplasia, Aplasia/Hypoplasia of the lungs, Hypoplasia of penis, Hypospadi... ORPHA:1046
Hemochromatosis, Type 2B
Hepatic fibrosis, Anemia, Cirrhosis, Increased serum iron, Hypogonadism, Secondary amenorrhea, El... OMIM:613313
Tuberous Sclerosis Complex
Respiratory tract infection, Noncommunicating hydrocephalus, Parathyroid adenoma, Renal angiomyol... ORPHA:805
Behavioral Variant Of Frontotemporal Dementia
Astrocytosis ORPHA:275864
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Alexander Disease
Hydrocephalus, Increased CSF protein concentration OMIM:203450
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Ogden Syndrome
Ventriculomegaly, Secundum atrial septal defect, Pulmonary hypoplasia, Global glomerulosclerosis,... OMIM:300855
Arima Syndrome
Renal tubular atrophy, Dilated fourth ventricle, Hepatic fibrosis, Cirrhosis, Anemia, Stage 5 chr... OMIM:243910
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia, Cleft palate, Ventriculomegaly OMIM:616570
Hydrocephalus, Congenital, X-Linked
Hydrocephalus, Aqueductal stenosis, Agenesis of corpus callosum OMIM:307000
Bronchogenic Cyst
Abnormal pericardium morphology, Abnormal pleura morphology, Pulmonary cyst, Atelectasis, Abnorma... ORPHA:2357
Primary Ciliary Dyskinesia
Asplenia, Ventriculomegaly, Bronchiectasis, Double outlet right ventricle, Hydrocephalus, Peribro... ORPHA:244
Microphthalmia, Syndromic 9
Truncus arteriosus, Pulmonary hypoplasia, Hypoplasia of the uterus, Anophthalmia, Ventricular sep... OMIM:601186
Papillary Tumor Of The Pineal Region
Hydrocephalus, Increased CSF protein concentration ORPHA:251915
Microphthalmia, Isolated 4
Absent testis, Microphthalmia OMIM:613094
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Agenesis of corpus callosum ORPHA:380
Serrated Polyposis Syndrome
Pancreatic adenocarcinoma, Gastric diverticulum, Colorectal polyposis, Prostate cancer, Biliary t... ORPHA:157798
Griscelli Syndrome
Leukopenia, Abnormal circulating lipid concentration, Encephalocele, Hepatitis, Jaundice, Hydroce... ORPHA:381
Hypotonia, Infantile, With Psychomotor Retardation
Lateral ventricle dilatation OMIM:616816
Gracile Bone Dysplasia
Asplenia, Ankyloglossia, Hydrocephalus, Hypocalcemia, Microphthalmia, Ascites, Hypoplastic spleen... OMIM:602361
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Anophthalmia, Ventricular septal defect, Esophageal atresia, Hydrocephalus, Hypoplasia of penis, ... ORPHA:77298
Genitopalatocardiac Syndrome
Double outlet right ventricle, Ventricular septal defect, Gonadal dysgenesis, male, Renal cyst, H... OMIM:231060
Fanconi Anemia, Complementation Group B
Ventriculomegaly, Hypogonadism, Esophageal atresia, Ventricular septal defect, Renal agenesis, Hy... OMIM:300514
Ritscher-Schinzel Syndrome 1
Double outlet right ventricle, Decreased response to growth hormone stimulation test, Ventricular... OMIM:220210
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased CD4:CD8 ratio, Bronchiectasis, Recurrent bronchitis, Recurrent sinusitis, Decreased pro... OMIM:300853
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Gastroesophageal reflux, Patent foramen ovale, Ventricular septal defect, Unilateral renal agenes... OMIM:618494
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Abnormal fallopian tube morphology, Splenomegaly, Abnormally large globe, High palate, Ventriculo... ORPHA:1655
Congenital Disorder Of Glycosylation, Type Iil
Proximal tubulopathy, Cirrhosis, Ventriculomegaly, Ventricular septal defect, Hydrocephalus, Unil... OMIM:614576
Aicardi-Goutieres Syndrome 4
Ventriculomegaly, Hydrocephalus, Pancytopenia, Hepatosplenomegaly, CSF lymphocytic pleiocytosis, ... OMIM:610333
Immunodeficiency 91 And Hyperinflammation
Hemolytic-uremic syndrome, Abnormal pulmonary interstitial morphology, Pulmonary hemorrhage, Neph... OMIM:619644
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy
Lateral ventricle dilatation OMIM:619972
Vacterl/Vater Association
Ambiguous genitalia, Abnormal cardiac septum morphology, Cleft palate, Abnormality of the urethra... ORPHA:887
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Increased total bilirubin, Ascites, Renal cyst, Polycystic liver disease OMIM:174050
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Decreased glomerular filtration rate... OMIM:618061
Cholestasis, Progressive Familial Intrahepatic, 10
Increased total bilirubin, Jaundice, Acholic stools, Portal fibrosis, Increased serum bile acid c... OMIM:619868
Neural Tube Defects, Susceptibility To
Spina bifida occulta, Anencephaly, Hydrocephalus, Myelomeningocele OMIM:182940
Trisomy 13
Anophthalmia, Abnormal morphology of female internal genitalia, Ventricular septal defect, Aplasi... ORPHA:3378
Lathosterolosis
Bilobate gallbladder, Abnormal circulating cholesterol concentration, Anisopoikilocytosis, Hyperb... OMIM:607330
Meckel Syndrome, Type 4
Meningocele, Encephalocele, Ventricular septal defect, Anencephaly, Hydrocephalus, Atrial septal ... OMIM:611134
Granulomatous Slack Skin
Abnormal lymph node morphology, Nephrocalcinosis, Hypercalcemia, Acute kidney injury ORPHA:33111
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Lymphadenitis, Crohn's disease, Hemolytic anemia, Perianal abscess, Nephrotic syndrome, Ulcerativ... OMIM:618935
Hemochromatosis, Type 2A
Cirrhosis, Increased serum iron, Infertility, Azoospermia, Dilated cardiomyopathy, Increased circ... OMIM:602390
Orofaciodigital Syndrome I
Pancreatic cysts, Lobulated tongue, Hepatic fibrosis, Myelomeningocele, Bifid tongue, High palate... OMIM:311200
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Agenesis of corpus callosum, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:613153
3C Syndrome
Atrioventricular canal defect, Ventriculomegaly, Ectopic anus, Cleft palate, Ventricular septal d... ORPHA:7
Distal 7Q11.23 Microduplication Syndrome
Hydrocephalus, Frontal encephalocele ORPHA:261102
Hemiparkinsonism-Hemiatrophy Syndrome
Lateral ventricle dilatation ORPHA:306669
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
T lymphocytopenia, Increased proportion of transitional B cells, Bronchiectasis, Recurrent sinopu... OMIM:615513
Hemophagocytic Lymphohistiocytosis, Familial, 4
Anemia, Hypertriglyceridemia, Jaundice, Lymphadenopathy, Increased circulating ferritin concentra... OMIM:603552
Emanuel Syndrome
Gastroesophageal reflux, High palate, Ventriculomegaly, Truncus arteriosus, Recurrent urinary tra... OMIM:609029
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Hemolytic-uremic syndrome, Anemia, Anuria, Acute kidney injury, Stage 5 chronic kidney disease, M... OMIM:612925
Bleeding Disorder, Platelet-Type, 19
Anemia, Thrombocytopenia, Menorrhagia, Macrothrombocytopenia OMIM:616176
Renal Hypodysplasia/Aplasia 3
Vesicoureteral reflux, Multicystic kidney dysplasia, Renal dysplasia, Renal agenesis, Abnormality... OMIM:617805
Cockayne Syndrome Type 1
Anemia, Anophthalmia, Male hypogonadism, Increased blood urea nitrogen, Cryptorchidism, Hepatomeg... ORPHA:90321
Intellectual Developmental Disorder, Autosomal Dominant 39
Obesity, Hydrocephalus OMIM:616521
Trisomy 1Q
Ambiguous genitalia, Multicystic kidney dysplasia, Congenital megaureter, Ventriculomegaly, Anoph... ORPHA:261344
Hydrocephalus, Congenital, 4
Communicating hydrocephalus, Ventriculomegaly OMIM:618667
Fryns Syndrome
Vesicoureteral reflux, Gastroesophageal reflux, Multicystic kidney dysplasia, High palate, Ventri... ORPHA:2059
Mu-Heavy Chain Disease
Anemia, Abnormal B cell count, Nephropathy, Lymphadenopathy, Hepatomegaly, Bence Jones Proteinuri... ORPHA:100024
Cat-Eye Syndrome
Renal hypoplasia/aplasia, Anal atresia, Microphthalmia, Abnormal localization of kidney, Hydronep... ORPHA:195
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Bronchiectasis, Coombs-positive hemolytic anemia, Ly... OMIM:617514
Marden-Walker Syndrome
High palate, Pyloric stenosis, Pulmonary hypoplasia, Zollinger-Ellison syndrome, Hypospadias, Dex... OMIM:248700
Phelan-Mcdermid Syndrome
Vesicoureteral reflux, Gastroesophageal reflux, High palate, Ventriculomegaly, Ventricular septal... OMIM:606232
Hereditary Renal Hypouricemia
Acute kidney injury, Abnormal renal tubule morphology, Hematuria, Abnormal renal physiology, Hype... ORPHA:94088
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Macrothrombocytopenia, Thrombocytopenia, Menorrhagia, Impaired platelet aggregation OMIM:124900
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Hydroureter, Abnormality of the upper urinary tract, Hypoplasia of penis, Duodenal stenosis, Abno... ORPHA:2547
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Macroorchidism, Hydrocephalus OMIM:300886
Isolated Follicle Stimulating Hormone Deficiency
Female hypogonadism, Gonadotropin deficiency, Decreased serum estradiol, Decreased testicular siz... ORPHA:52901
Congenital Rubella Syndrome
Anemia, Ventricular septal defect, Aplasia/Hypoplasia of the iris, Jaundice, Type I diabetes mell... ORPHA:290
Immunodeficiency With Hyper-Igm, Type 5
Recurrent upper and lower respiratory tract infections, Lymphadenopathy, Epididymitis OMIM:608106
Congenital Disorder Of Glycosylation, Type Ib
Lymphangiectasis, Proximal tubulopathy, Hepatic fibrosis, Cirrhosis, Villous atrophy, Steatorrhea... OMIM:602579
Leukoencephalopathy, Progressive, With Ovarian Failure
Lateral ventricle dilatation OMIM:615889
Hajdu-Cheney Syndrome
High palate, Ventricular septal defect, Polycystic kidney dysplasia, Hydrocephalus, Renal cyst, I... OMIM:102500
Meckel Syndrome, Type 10
Dilated fourth ventricle, Anencephaly, Bifid uvula, Malformation of the hepatic ductal plate, Ren... OMIM:614175
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Hemolytic-uremic syndrome, Anemia, Anuria, Acute kidney injury, Microangiopathic hemolytic anemia... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Hemolytic-uremic syndrome, Anemia, Anuria, Acute kidney injury, Microangiopathic hemolytic anemia... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Hemolytic-uremic syndrome, Anemia, Anuria, Acute kidney injury, Microangiopathic hemolytic anemia... OMIM:612926
Oculocerebrocutaneous Syndrome
Anophthalmia, Orbital encephalocele, Microphthalmia, Cryptorchidism, Cleft palate, Dandy-Walker m... OMIM:164180
Ventriculomegaly With Defects Of The Radius And Kidney
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:602200
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Dilated fourth ventricle, Ventriculomegaly, Lateral ventricle dilatation OMIM:613443
Desmoplastic Small Round Cell Tumor
Anemia, Neoplasm of the lung, Ileus, Neoplasm of the pancreas, Abnormality of the peritoneum, Lym... ORPHA:83469
Meckel Syndrome
Asplenia, Ambiguous genitalia, Aplasia/Hypoplasia of the iris, Lobar holoprosencephaly, Furrowed ... ORPHA:564
Pseudotrisomy 13 Syndrome
Encephalocele, Ventricular septal defect, Bicornuate uterus, Renal agenesis, Hydrocephalus, Anal ... OMIM:264480
Bernard-Soulier Syndrome
Decreased platelet glycoprotein Ib-IX-V, Menorrhagia, Giant platelets, Macrothrombocytopenia, Imp... ORPHA:274
Joubert Syndrome 37
High palate, Decreased testicular size, Microphthalmia, Hepatomegaly, Cryptorchidism, Micropenis,... OMIM:619185
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Small for gestational age, Lateral ventricle dilatation OMIM:619278
Coach Syndrome 1
Hepatic fibrosis, Multiple small medullary renal cysts, Encephalocele, Cirrhosis, Stage 5 chronic... OMIM:216360
Pfapa Syndrome
Malabsorption, Recurrent pharyngitis, Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:42642
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Genital ulcers, B lymphocytopenia, Generalized lymphadenopathy, Lymphopenia, Abnormally low T cel... OMIM:602450
Coach Syndrome 2
Hydrocephalus, Agenesis of corpus callosum OMIM:619111
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Urethral atresia, Atrioventricular canal defect, Esophageal atresia, Enlarged kidney, Hydrocephal... OMIM:314390
Hypogonadism, Male
Male hypogonadism, Testicular atrophy, Hypospadias, Micropenis OMIM:241100
Pierpont Syndrome
Microphthalmia, Ventriculomegaly, Cryptorchidism ORPHA:487825
Melanosis, Neurocutaneous
Hydrocephalus, Choroid plexus papilloma, Dandy-Walker malformation OMIM:249400
Pleural Mesothelioma
Abnormal pleura morphology, Pleural effusion, Abnormal lung morphology, Lymphadenopathy, Hepatome... ORPHA:50251
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Bronchiectasis, Recurrent lower respiratory tract infections, Neutropenia in presence of anti-neu... OMIM:619220
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Hemolytic-uremic syndrome, Anemia, Anuria, Acute kidney injury, Microangiopathic hemolytic anemia... OMIM:612924
Genitopalatocardiac Syndrome
Multicystic kidney dysplasia, Gonadal dysgenesis, male, Abnormal cardiac septum morphology, Abnor... ORPHA:2075
Tetraamelia-Multiple Malformations Syndrome
Multicystic kidney dysplasia, Septo-optic dysplasia, Aplasia/Hypoplasia of the lungs, Hydrocephal... ORPHA:3301
Warburg Micro Syndrome 1
External genital hypoplasia, Enlarged sylvian cistern, Microphthalmia, Cryptorchidism OMIM:600118
Paternal Uniparental Disomy Of Chromosome 1
Enlarged kidney, Membranoproliferative glomerulonephritis, Episodic hemolytic anemia, Delayed pub... ORPHA:251004
Meckel Syndrome, Type 2
Meningocele, Encephalocele, Anencephaly, Renal cyst, Intestinal malrotation, Bile duct proliferat... OMIM:603194
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hydrocephalus, Ventriculomegaly OMIM:602501
Symptomatic Form Of Hemochromatosis Type 1
Hypothyroidism, Cirrhosis, Abnormality of iron homeostasis, Infertility, Elevated transferrin sat... ORPHA:465508
Lissencephaly 5
Occipital encephalocele, Hydrocephalus OMIM:615191
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Hepatosplenomegaly, Eosinophilia,... OMIM:619802
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Ventriculomegaly, Agenesis of corpus callosum OMIM:175700
Krabbe Disease
Failure to thrive, Hydrocephalus, Increased CSF protein concentration OMIM:245200
Hardikar Syndrome
Hypoplasia of the bladder, Cleft soft palate, Portal inflammation, Hepatosplenomegaly, Celiac dis... OMIM:301068
Temple Syndrome
Small for gestational age, Obesity, Hydrocephalus ORPHA:254516
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatic fibrosis, Ventriculomegaly, Ventricular septal defect, Hydrocephalus, Cholestasis, Hepato... OMIM:615630
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Hydrocephalus ORPHA:83473
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Hypospadias, Abnormal heart morphology, Total anomalous pulmonary venous return, Thrombocytopenia... ORPHA:487796
Fanconi Anemia, Complementation Group F
Vesicoureteral reflux, Leukopenia, Anemia, Decreased response to growth hormone stimulation test,... OMIM:603467
Oculogastrointestinal Neurodevelopmental Syndrome
Vaginal fistula, Bicuspid aortic valve, Anal atresia, Unilateral microphthalmos, Bilateral microp... OMIM:619318
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Hydrocephalus ORPHA:1516
Developmental And Epileptic Encephalopathy 1
Microphthalmia, Micropenis, Ventriculomegaly, Dysphagia OMIM:308350
Pierpont Syndrome
Microphthalmia, Micropenis, Cryptorchidism OMIM:602342
Pentalogy Of Cantrell
Absent gallbladder, Abnormal pericardium morphology, Encephalocele, Ventricular septal defect, Re... ORPHA:1335
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Atrophic gastritis, Crohn's disease, Bronchiectasis, Lymphopenia, Autoimmune thrombocytopenia, Ly... OMIM:616100
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Renal agenesis, Hydrocephalus, Hypospadias, Cryptorchidism, Renal hypoplasia, Micropenis ORPHA:171839
Pallister-Hall-Like Syndrome
Hypothalamic hamartoma, Glioma, Hydrocephalus, Occipital encephalocele OMIM:241800
Emanuel Syndrome
Ventriculomegaly, Ectopic anus, Truncus arteriosus, Bifid uvula, Dysphagia, Cleft palate, Ventric... ORPHA:96170
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Obesity, Hydrocephalus OMIM:601794
Immunodeficiency 64 With Lymphoproliferation
Bronchiectasis, Decreased proportion of CD4-positive T cells, Hepatosplenomegaly, Autoimmune thro... OMIM:618534
Holoprosencephaly-Postaxial Polydactyly Syndrome
Ambiguous genitalia, Encephalocele, Abnormal cardiac septum morphology, Renal hypoplasia/aplasia,... ORPHA:2166
Crouzon Syndrome With Acanthosis Nigricans
Hydrocephalus OMIM:612247
Immunodeficiency 27A
Anemia, Hepatosplenomegaly, Lymphadenopathy, Pneumonia, Thrombocytosis, Leukocytosis, Histiocytos... OMIM:209950
Meckel Syndrome, Type 6
Absent gallbladder, Hepatic fibrosis, Hepatic cysts, Anencephaly, Hydrocephalus, Pulmonary hypopl... OMIM:612284
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies
Renal cyst, Multinodular goiter OMIM:138790
Purine Nucleoside Phosphorylase Deficiency
Recurrent urinary tract infections, Increased circulating inosine concentration, Neutropenia in p... OMIM:613179
Pontocerebellar Hypoplasia, Type 1A
Basal ganglia gliosis, Lateral ventricle dilatation OMIM:607596
Thrombotic Thrombocytopenic Purpura, Hereditary
Hemolytic-uremic syndrome, Prolonged neonatal jaundice, Microangiopathic hemolytic anemia, Jaundi... OMIM:274150
Temple Syndrome
Hypercholesterolemia, Precocious puberty, High palate, Decreased testicular size, Bifid uvula, Hy... OMIM:616222
Fanconi Anemia, Complementation Group I
Vesicoureteral reflux, Hypothyroidism, Patent foramen ovale, Decreased response to growth hormone... OMIM:609053
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Hepatic cysts, Polycystic kidney dysplasia OMIM:600666
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hydrocephalus, Agenesis of corpus callosum OMIM:617542
Heme Oxygenase 1 Deficiency
Asplenia, Hemolytic anemia, Coombs-positive hemolytic anemia, Hematuria, Nephritis, Diffuse alveo... OMIM:614034
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Hydrocephalus, Ventriculomegaly, Agenesis of corpus callosum OMIM:109120
Fanconi Anemia, Complementation Group D2
Bone marrow hypocellularity, Thrombocytopenia, Esophageal atresia, Hydrocephalus, Tracheoesophage... OMIM:227646
Immunodeficiency, Common Variable, 2
Bronchiectasis, Recurrent bronchitis, Recurrent sinusitis, Recurrent pneumonia, Lymphadenopathy, ... OMIM:240500
Lymphangioleiomyomatosis
Pneumothorax, Renal angiomyolipoma, Hydrocephalus, Hematuria, Chylopericardium, Emphysema, Renal ... ORPHA:538
Cholestasis-Lymphedema Syndrome
Cirrhosis, Malabsorption, Jaundice, Neonatal cholestatic liver disease, Hepatomegaly, Hyperlipide... OMIM:214900
Harderoporphyria
Increased urine harderoporphyrin level, Hemolytic anemia, Red urine, Reticulocytosis, Increased f... OMIM:618892
Renal Tubular Dysgenesis
Proximal tubulopathy, Pulmonary hypoplasia, Nephropathy, Multiple renal cysts, Tetralogy of Fallo... ORPHA:3033
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Hydrocephalus OMIM:615599
Meckel Syndrome, Type 9
Occipital encephalocele, Ambiguous genitalia, Multicystic kidney dysplasia OMIM:614209
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
High palate, Ventriculomegaly, Ventricular septal defect, Thyroid lymphangiectasia, Ascites, Pulm... OMIM:235255
Lymphoproliferative Syndrome, X-Linked, 2
Recurrent respiratory infections, Hepatitis, Pancytopenia, Inflammation of the large intestine, I... OMIM:300635
Combined Immunodeficiency Due To Zap70 Deficiency
Abnormal lymph node morphology, Lymphadenitis, Nephrotic syndrome, Lymphocytosis, Decreased propo... ORPHA:911
6P22 Microdeletion Syndrome
Hydrocephalus ORPHA:251046
Congenital Muscular Dystrophy, Fukuyama Type
Hydrocephalus, Ventriculomegaly ORPHA:272
Nephronophthisis 20
Vesicoureteral reflux, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Renal insuff... OMIM:617271
Pallister-Hall Syndrome
Precocious puberty, Renal dysplasia, Decreased circulating cortisol level, Holoprosencephaly, Cle... OMIM:146510
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Hydrocephalus ORPHA:397951
Rere-Related Neurodevelopmental Syndrome
Vesicoureteral reflux, Gastroesophageal reflux, Ventriculomegaly, Ventricular septal defect, Hypo... ORPHA:494344
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Spina bifida occulta, Agenesis of corpus callosum, Dandy-Walker malformation, Lateral ventricle d... OMIM:618736
Kennedy Disease
Decreased fertility, Abnormal circulating lipid concentration, Type II diabetes mellitus, Erectil... ORPHA:481
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Lateral ventricle dilatation OMIM:618890
Alg2-Cdg
Lateral ventricle dilatation ORPHA:79326
Cofs Syndrome
Microphthalmia, Hypogonadism ORPHA:1466
Williams-Beuren Region Duplication Syndrome
Decreased response to growth hormone stimulation test, Ventriculomegaly, High palate, Hydrocephal... OMIM:609757
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation ORPHA:163961
Chiari Malformation Type Ii
Myelomeningocele, Spina bifida, Hydrocephalus, Cervical myelopathy, Agenesis of corpus callosum OMIM:207950
Lig4 Syndrome
Hypothyroidism, Malabsorption, Type II diabetes mellitus, Hypoplasia of penis, Pancytopenia, Lymp... ORPHA:99812
Follicular Lymphoma
Abnormality of the peritoneum, Pleural effusion, Lymphadenopathy, Mediastinal lymphadenopathy, Sp... ORPHA:545
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities
Lateral ventricle dilatation OMIM:617668
Dandy-Walker Malformation With Postaxial Polydactyly
Dilated fourth ventricle, Hydrocephalus, Dandy-Walker malformation OMIM:220220
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Gliosis, Lateral ventricle dilatation OMIM:221770
Immunodeficiency With Hyper-Igm, Type 2
Recurrent upper and lower respiratory tract infections, Lymphadenopathy, Recurrent respiratory in... OMIM:605258
Fryns Syndrome
Pulmonary hypoplasia, Cleft palate, Ventricular septal defect, Bicornuate uterus, Shawl scrotum, ... OMIM:229850
Roberts Syndrome
High palate, Polycystic kidney dysplasia, Long penis, Microphthalmia, Cryptorchidism, Cleft palat... ORPHA:3103
Congenital Bile Acid Synthesis Defect Type 2
Fat malabsorption, Hyperbilirubinemia, Jaundice, Extramedullary hematopoiesis, Abnormal serum bil... ORPHA:79303
Global Developmental Delay With Or Without Impaired Intellectual Development
Lateral ventricle dilatation OMIM:618330
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Webbed neck, Hydrocephalus, Hypertrophic cardiomyopathy, Cryptorchidism, Pulmonic stenosis ORPHA:2701
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation, Hydranencephaly, Agenesis of corpus c... OMIM:225790
Nasu-Hakola Disease
Hydrocephalus, Ventriculomegaly ORPHA:2770
Orthostatic Hypotension 1
High palate, Retrograde ejaculation, Nocturia, Reduced circulating prolactin concentration, Incre... OMIM:223360
Indomethacin Embryofetopathy
Multicystic kidney dysplasia, Ventricular septal defect, Abnormal renal tubule morphology, Atrial... ORPHA:1909
Acrorenal-Mandibular Syndrome
Unicornuate uterus, Narrow palate, High palate, Bicornuate uterus, Polycystic kidney dysplasia, A... OMIM:200980
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:86893
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Gastroesophageal reflux, Patent foramen ovale, Ventricular septal defect, Lateral ventricle dilat... OMIM:210710
Dworschak-Punetha Neurodevelopmental Syndrome
Dysplastic corpus callosum, Agenesis of corpus callosum, Colpocephaly OMIM:619955
Kimura Disease
Lymphadenopathy, Follicular hyperplasia, Abnormal salivary gland morphology, Eosinophilia ORPHA:482
Microphthalmia-Brain Atrophy Syndrome
Lateral ventricle dilatation ORPHA:77299
Encephalocraniocutaneous Lipomatosis
Subvalvular aortic stenosis, Ventricular septal defect, Hypoplasia of the iris, Hydrocephalus, At... OMIM:613001
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Ventriculomegaly, Colpocephaly OMIM:615219
Cat Eye Syndrome
Cleft palate, Rectal fistula, Vesicoureteral reflux, Ventricular septal defect, Atrial septal def... OMIM:115470
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Decreased fertility, Testicular atrophy, Elevated circulating creatine kinase concentration OMIM:313200
Renal Dysplasia, Cystic, Susceptibility To
Vesicoureteral reflux, Renal dysplasia, Cystic renal dysplasia, Renal insufficiency, Hyperechogen... OMIM:601331
Thomas Syndrome
Renal hypoplasia/aplasia, Cleft palate, Multicystic kidney dysplasia, Hypoplastic left heart ORPHA:3316
Heterotaxy, Visceral, 1, X-Linked
Subvalvular aortic stenosis, Asplenia, Atrioventricular canal defect, Hepatomegaly, Right atrial ... OMIM:306955
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Hydrocephalus, Macroglossia, Elevated circulating creatine kinase concentration, Microphthalmia, ... OMIM:613155
Meckel Syndrome, Type 3
Hepatic fibrosis, Multicystic kidney dysplasia, Hydrocephalus, Malformation of the hepatic ductal... OMIM:607361
Rhyns Syndrome
Nephronophthisis, Abnormality of the liver, Multicystic kidney dysplasia, Hypopituitarism ORPHA:140976
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Microangiopathic hemolytic anemia, Reticu... OMIM:235400
Renal-Hepatic-Pancreatic Dysplasia 2
Asplenia, Hepatic fibrosis, Truncus arteriosus, Enlarged kidney, Cystic renal dysplasia, Abnormal... OMIM:615415
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased total bilirubin, Leukopenia, Anemia, Increased VLDL cholesterol concentration, CSF pleo... OMIM:267700
Immunodeficiency, Common Variable, 1
B lymphocytopenia, Bronchiectasis, Neutropenia in presence of anti-neutropil antibodies, Recurren... OMIM:607594
Ornithine Transcarbamylase Deficiency
Aminoaciduria, Pyloric stenosis, Hyperammonemia, Splenomegaly ORPHA:664
Intellectual Developmental Disorder, Autosomal Dominant 36
Hydrocephalus, Ventriculomegaly, Agenesis of corpus callosum OMIM:616362
Chromosome 13Q33-Q34 Deletion Syndrome
Encephalocele, High palate, Bifid scrotum, Penoscrotal transposition, Anencephaly, Pyloric stenos... OMIM:619148
Floating-Harbor Syndrome
Gastroesophageal reflux, Precocious puberty, Congenital posterior urethral valve, Stage 5 chronic... ORPHA:2044
Systemic Sclerosis
Abnormal large intestine morphology, Abnormal stomach morphology, Elevated circulating creatine k... ORPHA:90291
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Colpocephaly OMIM:618731
Legionnaires Disease
Endocarditis, Abnormal pleura morphology, Hepatitis, Jaundice, Pancreatitis, Hematuria, Recurrent... ORPHA:549
Joubert Syndrome 18
Intrahepatic biliary atresia, Lobulated tongue, Ventricular septal defect, Arrhinencephaly, Renal... OMIM:614815
X-Linked Parkinsonism-Spasticity Syndrome
Dilated third ventricle, Lateral ventricle dilatation ORPHA:363654
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatocellular carcinoma, Elevated circulating creatine kinase concentration, Hepatic steatosis, ... ORPHA:370
Pagod Syndrome
Meningocele, Ambiguous genitalia, Multicystic kidney dysplasia, Encephalocele, Abnormal testis mo... ORPHA:991
Short-Rib Thoracic Dysplasia 12
Lobulated tongue, Ambiguous genitalia, Patent foramen ovale, Periportal fibrosis, Ventricular sep... OMIM:269860
Smith-Lemli-Opitz Syndrome
Ambiguous genitalia, Precocious puberty, Bifid uvula, Pulmonary hypoplasia, Hepatic steatosis, Hy... OMIM:270400
Kleefstra Syndrome
Vesicoureteral reflux, Gastroesophageal reflux, Ventriculomegaly, Ventricular septal defect, Recu... ORPHA:261494
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Anemia, Hyperuricemia, Neutropenia, Renal cyst, Nephropathy, Elevated circulating creatinine conc... OMIM:617056
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypothyroidism, Decreased prealbumin level, Abnormal blood ion concentration, Abnormal intestine ... ORPHA:37042
Whipple Disease
Hypothyroidism, Anemia, Hyponatremia, Malabsorption, Pleuritis, Hydrocephalus, Erectile dysfuncti... ORPHA:3452
Mixed Connective Tissue Disease
Leukopenia, Gastroesophageal reflux, Abnormal pulmonary interstitial morphology, Hemolytic anemia... ORPHA:809
Kaposiform Lymphangiomatosis
Pancreatic cysts, Anemia, Pericardial effusion, Enlarged kidney, Abnormal spleen morphology, Abno... ORPHA:464329
Paroxysmal Nocturnal Hemoglobinuria
Impotence, Unconjugated hyperbilirubinemia, Decreased serum iron, Reticulocytosis, Hemosiderinuri... ORPHA:447
Hyperbilirubinemia, Shunt, Primary
Jaundice, Hyperbilirubinemia, Erythroid hyperplasia, Reticulocytosis, Hepatomegaly, Anemia of ina... OMIM:237800
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, High palate, Decreased testicul... OMIM:308700
Immunodeficiency 54