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
polycystic kidney Pdcd6ipem1(IMPC)Mbp HOM Late adult 0.00
enlarged stomach Pdcd6ipem1(IMPC)Mbp HOM Late adult 0.00
abnormal stomach morphology Pdcd6ipem1(IMPC)Mbp HOM Late adult 0.00
small kidney Pdcd6ipem1(IMPC)Mbp HOM Late adult 0.00
decreased brain size Pdcd6ipem1(IMPC)Mbp HOM Early adult 0.00
increased circulating alkaline phosphatase level Pdcd6ipem1(IMPC)Mbp HOM   Early adult 7.90×10-05
abnormal brain morphology Pdcd6ipem1(IMPC)Mbp HOM Late adult 0.00
enlarged seminal vesicle Pdcd6ipem1(IMPC)Mbp HOM Late adult 0.00
enlarged spleen Pdcd6ipem1(IMPC)Mbp HOM Late adult 0.00
abnormal heart morphology Pdcd6ipem1(IMPC)Mbp HOM Early adult 0.00
small heart Pdcd6ipem1(IMPC)Mbp HOM Early adult 0.00
decreased brain weight Pdcd6ipem1(IMPC)Mbp HOM   Early adult 2.05×10-41
decreased circulating bilirubin level Pdcd6ipem1(IMPC)Mbp HOM Late adult 1.23×10-05
decreased body length Pdcd6ipem1(IMPC)Mbp HOM Early adult 6.20×10-05
abnormal seminal vesicle morphology Pdcd6ipem1(IMPC)Mbp HOM Late adult 0.00
abnormal skin morphology Pdcd6ipem1(IMPC)Mbp HOM Late adult 0.00
decreased circulating iron level Pdcd6ipem1(IMPC)Hmgu HOM   Late adult 3.58×10-05
abnormal spleen morphology Pdcd6ipem1(IMPC)Mbp HOM Late adult 0.00
decreased body length Pdcd6ipem1(IMPC)Mbp HOM Late adult 1.32×10-05
decreased brain size Pdcd6ipem1(IMPC)Mbp HOM Late adult 0.00
decreased heart weight Pdcd6ipem1(IMPC)Mbp HOM Late adult 4.52×10-11
small testis Pdcd6ipem1(IMPC)Mbp HOM Early adult 0.00
microphthalmia Pdcd6ipem1(IMPC)Mbp HOM Late adult 0.00
thick skin Pdcd6ipem1(IMPC)Mbp HOM Late adult 0.00
abnormal testis morphology 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 4.36×10-05
abnormal kidney morphology Pdcd6ipem1(IMPC)Mbp HOM Late adult 0.00
abnormal lymph node morphology Pdcd6ipem1(IMPC)Mbp HOM Late adult 0.00
hydrocephaly Pdcd6ipem1(IMPC)Mbp HOM Late adult 0.00
small testis Pdcd6ipem1(IMPC)Mbp HOM Late adult 0.00
abnormal eye morphology Pdcd6ipem1(IMPC)Mbp HOM Late adult 0.00
enlarged lymph nodes Pdcd6ipem1(IMPC)Mbp HOM Late adult 0.00
abnormal lung morphology Pdcd6ipem1(IMPC)Mbp HOM Late adult 0.00
enlarged lymph nodes Pdcd6ipem1(IMPC)Hmgu 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

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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

Histopathology

Images

164 Images

X-ray

XRay Images Whole Body Lateral Orientation

16 Images

X-ray

XRay Images Whole Body Lateral Orientation

16 Images

X-ray

XRay Images Whole Body Dorso Ventral

48 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.

No human diseases associated to this gene by orthology or annotation.

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Polymicrogyria, Megalencephaly, Ventriculomegaly, Hydrocephalus OMIM:615938
Megalencephaly, Autosomal Dominant
Megalencephaly, Hydrocephalus OMIM:155350
Iron Overload In Africa
Elevated transferrin saturation OMIM:601195
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hydrocephalus, Ventriculomegaly, Hemimegalencephaly, Hypoplasia of the corpus callosum, Polymicro... OMIM:615937
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Immunodeficiency 32A
Lymphadenopathy OMIM:614893
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Cerebral cortical atrophy, Subcortical cerebral atrophy, Cerebral cortical hemiatrophy, Hydroceph... ORPHA:2703
Hydrocephalus, Congenital, 1
Ventriculomegaly, Hydrocephalus OMIM:236600
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormality of the lymph nodes OMIM:136580
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Chudley-Mccullough Syndrome
Hydrocephalus, Dysplastic corpus callosum, Ventriculomegaly, Partial agenesis of the corpus callo... OMIM:604213
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormal corpus callosum morphology, Ventriculomegaly, Microcephaly, Cortical dysplasia, Hydrocep... OMIM:618709
Band Heterotopia
Agenesis of corpus callosum, Ventriculomegaly, Subcortical band heterotopia, Hydrocephalus, Polym... OMIM:600348
Hydrocephalus With Cerebellar Agenesis
Hydrocephalus OMIM:307010
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Focal Cortical Dysplasia, Type Ii
Astrocytosis, Hemimegalencephaly, Cortical dysplasia, Focal cortical dysplasia type II, Focal whi... OMIM:607341
Alexander Disease
Increased CSF protein, Hydrocephalus OMIM:203450
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus ORPHA:2807
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Megalencephaly, Ventriculomegaly, Astrocytosis, Slender build OMIM:611087
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Agenesis of corpus callosum, Hydrocephalus OMIM:166990
Atypical Teratoid Rhabdoid Tumor
Cerebral calcification, Hydrocephalus ORPHA:99966
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Enlarged kidney, Renal cyst, Portal hypertension, Pancreatic cysts, Periportal fibrosis, Splenome... OMIM:263200
Pineocytoma
Increased CSF protein, Hydrocephalus ORPHA:251912
Edinburgh Malformation Syndrome
Failure to thrive, Hydrocephalus OMIM:129850
Renal-Hepatic-Pancreatic Dysplasia 1
Biliary cirrhosis, Ureteral atresia, Cholestasis, Bile duct proliferation, Polycystic kidney dysp... OMIM:208540
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Ventriculomegaly OMIM:611808
Alg13-Cdg
Decreased body weight, Abnormal lateral ventricle morphology ORPHA:324422
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy, Esophageal carcinoma ORPHA:99977
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Dandy-Walker malformation, Hydrocephalus ORPHA:1538
Dandy-Walker Syndrome
Posterior fossa cyst at the fourth ventricle, Dilated fourth ventricle, Hydrocephalus OMIM:220200
Hydrocephalus, Autosomal Dominant
Dandy-Walker malformation, Hydrocephalus OMIM:123155
Bardet-Biedl Syndrome 16
Renal agenesis, Renal cyst, Bronchiolitis, Abnormality of the kidney, External genital hypoplasia... OMIM:615993
Developmental And Epileptic Encephalopathy 36
Microcephaly, Cerebral atrophy, Hydrocephalus OMIM:300884
Fanconi Anemia, Complementation Group R
Microcephaly, Hydrocephalus OMIM:617244
Sporadic Creutzfeldt-Jakob Disease
Cerebral atrophy, Cerebral cortex with spongiform changes, Increased CSF protein, Astrocytosis, H... ORPHA:204
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly, Recurrent respiratory infections, Recurr... OMIM:618495
Methylmalonic Acidemia With Homocystinuria
Microcephaly, Failure to thrive, Hydrocephalus ORPHA:26
Meckel Syndrome, Type 1
Accessory spleen, Cryptorchidism, Bile duct proliferation, Polycystic kidney dysplasia, Abnormali... OMIM:249000
Masa Syndrome
Agenesis of corpus callosum, Microcephaly, Ventriculomegaly, Hydrocephalus OMIM:303350
Beemer Lethal Malformation Syndrome
Hydrocephalus OMIM:209970
Nephronophthisis 16
Enlarged kidney, Cholestasis, Hypertrophic cardiomyopathy, Situs inversus totalis, Pulmonic steno... OMIM:615382
Pulmonary Nodular Lymphoid Hyperplasia
Nodular pattern on pulmonary HRCT, Mediastinal lymphadenopathy, Follicular hyperplasia, Plasmacyt... ORPHA:60026
Hepatic Venoocclusive Disease With Immunodeficiency
Absence of lymph node germinal center, Abnormality of the liver, Endocardial fibrosis OMIM:235550
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Lymphadenopathy OMIM:312500
Developmental And Epileptic Encephalopathy 49
Cerebral calcification, Ventriculomegaly, Dandy-Walker malformation, Microcephaly, Hydrocephalus OMIM:617281
Femoral-Facial Syndrome
Cryptorchidism, Long penis, Ventriculomegaly, Polycystic kidney dysplasia, Abnormal localization ... ORPHA:1988
Hydrocephalus, Congenital, 3, With Brain Anomalies
Hydranencephaly, Ventriculomegaly, Dandy-Walker malformation, Hydrocephalus, Holoprosencephaly OMIM:617967
Congenital Hydrocephalus
Abnormal cortical gyration, Colpocephaly, Small cerebral cortex, Ventriculomegaly, Lissencephaly,... ORPHA:2185
Progressive Non-Fluent Aphasia
Frontotemporal cerebral atrophy, Temporal cortical atrophy, Abnormal cerebral white matter morpho... ORPHA:100070
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Type II lissencephaly, Ventriculomegaly, Hydrocephalus OMIM:614830
Familial Infantile Bilateral Striatal Necrosis
Basal ganglia gliosis, Basal ganglia cysts, Astrocytosis, Atrophy/Degeneration involving the caud... ORPHA:225154
Mantle Cell Lymphoma
Abnormality of the gastrointestinal tract, Splenomegaly, Lymphadenopathy ORPHA:52416
Distal Tetrasomy 15Q
High palate, Horseshoe kidney, Atrial septal defect, Hydronephrosis, Abnormal external genitalia,... ORPHA:314588
Holoprosencephaly 5
Central diabetes insipidus, Semilobar holoprosencephaly, Holoprosencephaly, Lobar holoprosencepha... OMIM:609637
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Dandy-Walker malformation, Type II lissencephaly, Ventriculomegaly, Hydrocephalus OMIM:613154
Bardet-Biedl Syndrome 10
Renal cyst, Abnormality of the kidney, Hypogonadism, Renal insufficiency OMIM:615987
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hiatus hernia, Renal cyst, Portal hypertension, Buphthalmos, Pancreatic cysts, Cholestasis, Pancr... OMIM:610199
Peroxisome Biogenesis Disorder 2A (Zellweger)
Cryptorchidism, Intrahepatic biliary dysgenesis, Jaundice, Polycystic kidney dysplasia, Hepatomeg... OMIM:214110
Carcinoma Of Esophagus
Esophageal neoplasm, Gastroesophageal reflux, Abnormal intestine morphology, Dysphagia, Lymphaden... ORPHA:70482
Congenital Disorder Of Glycosylation, Type Il
Hepatosplenomegaly, Hepatomegaly, Polycystic kidney dysplasia, Ascites, Pericardial effusion, Abn... OMIM:608776
Polyrrhinia
Dilation of lateral ventricles, Abnormal third ventricle morphology ORPHA:141091
Caroli Disease
Cholelithiasis, Biliary cirrhosis, Portal hypertension, Leukocytosis, Cholestasis, Cholangitis, C... ORPHA:53035
Matthew-Wood Syndrome
Anophthalmia, Horseshoe kidney, Cryptorchidism, Renal hypoplasia, Abnormal spleen morphology, Abn... ORPHA:2470
1Q21.1 Microduplication Syndrome
Tetralogy of Fallot, Cryptorchidism, Gastroesophageal reflux, Hydrocephalus, Hypospadias ORPHA:250994
Hyperparathyroidism 2 With Jaw Tumors
Parathyroid carcinoma, Nephrolithiasis, Recurrent pancreatitis, Renal cortical adenoma, Parathyro... OMIM:145001
Unilateral Hemispheric Polymicrogyria
Thick cerebral cortex, Dilation of lateral ventricles, Cortical dysplasia, Cerebral hypoplasia ORPHA:101071
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Microcephaly, Simplified gyral pattern, Periventricular white matter hyperintensities, Hydrocephalus OMIM:619470
Lissencephaly 5
Hypoplasia of the corpus callosum, Occipital encephalocele, Porencephalic cyst, Subcortical band ... OMIM:615191
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Occipital encephalocele, Dysgyria, Hydrocephalus, Type II lissencephaly, Abnormal cerebral white ... ORPHA:352682
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus ORPHA:1008
Intellectual Developmental Disorder, Autosomal Recessive 68
Microcephaly, Periventricular leukomalacia, Small for gestational age, Hydrocephalus OMIM:618302
Peroxisome Biogenesis Disorder 6A (Zellweger)
Colpocephaly, Pachygyria OMIM:614870
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Hyperechogenic kidneys, Polycystic kidney dysplasia OMIM:617610
Gillessen-Kaesbach-Nishimura Syndrome
Periportal fibrosis, Polycystic kidney dysplasia, Abnormal heart morphology, Abnormal lung lobati... OMIM:263210
Bardet-Biedl Syndrome 6
Renal cyst, Hypospadias, Diabetes mellitus, External genital hypoplasia OMIM:605231
Frontal Encephalocele
Cerebral calcification, Aplasia/Hypoplasia of the corpus callosum, Spina bifida, Hydrocephalus, E... ORPHA:1931
Caroli Syndrome
Cholangitis, Polycystic kidney dysplasia, Intrahepatic cholestasis, Hematemesis, Hyperbilirubinem... ORPHA:480520
Motor Neuron Disease With Dementia And Ophthalmoplegia
Cerebral atrophy, Astrocytosis OMIM:600333
Fried Syndrome
Cerebral calcification, Hydrocephalus ORPHA:85335
Autosomal Recessive Polycystic Kidney Disease
Hepatoblastoma, Gastrointestinal hemorrhage, Cholestasis, Cholangitis, Polycystic kidney dysplasi... ORPHA:731
Dextrocardia
Hydrocephalus, Webbed neck, Abnormality of the ureter, Intestinal malrotation, Pancreatic hypopla... ORPHA:1666
Corpus Callosum, Partial Agenesis Of, X-Linked
Microcephaly, Partial agenesis of the corpus callosum, Hydrocephalus OMIM:304100
Pettigrew Syndrome
Cerebral calcification, Abnormality of the basal ganglia, Ventriculomegaly, Dandy-Walker malforma... OMIM:304340
Macrosomia With Microphthalmia, Lethal
Microphthalmia, Median cleft palate, Respiratory infections in early life OMIM:248110
Microgastria-Limb Reduction Defects Association
Unilateral renal agenesis, Absent gallbladder, Cystic renal dysplasia, Splenogonadal fusion, Hors... OMIM:156810
Behavioral Variant Of Frontotemporal Dementia
Frontotemporal cerebral atrophy, Abnormal cerebral white matter morphology, Astrocytosis ORPHA:275864
Alpha-Heavy Chain Disease
Splenomegaly, Abnormality of the small intestine, Hepatomegaly, Anemia, Malabsorption, Lymphadeno... ORPHA:100025
Central Precocious Puberty
Hypothalamic hamartoma, Obesity, Hydrocephalus, Increased circulating gonadotropin level, Increas... ORPHA:759
RCAD (renal cysts and diabetes)
Abnormality of the liver, Diabetes mellitus, Multiple renal cysts DECIPHER:47
Syndromic Recessive X-Linked Ichthyosis
Abnormal stomach morphology, Unilateral renal agenesis, Cryptorchidism, Testicular seminoma, Acut... ORPHA:281090
Adenocarcinoma Of The Esophagus
Gastroesophageal reflux, Barrett esophagus, Lymphadenopathy, Esophageal carcinoma ORPHA:99976
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Cerebral cortical atrophy, Astrocytosis OMIM:600795
Syndromic Diarrhea
Hepatoblastoma, Hypothyroidism, Polycystic kidney dysplasia, Ventricular septal defect, Villous a... ORPHA:84064
Central Neurocytoma
Cerebral calcification, Abnormal lateral ventricle morphology, Hydrocephalus ORPHA:73256
Polymicrogyria Due To Tubb2B Mutation
Abnormal corpus callosum morphology, Hypoplasia of the corpus callosum, Abnormal caudate nucleus ... ORPHA:300573
Prune Belly Syndrome
Cryptorchidism, Abnormality of the uterus, Multicystic kidney dysplasia, Recurrent urinary tract ... ORPHA:2970
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Dilation of lateral ventricles, Agenesis of corpus callosum, Hydrocephalus OMIM:300864
Campomelia, Cumming Type
Polysplenia, Polycystic liver disease, Pancreatic cysts, Polycystic kidney dysplasia OMIM:211890
Axial Mesodermal Dysplasia Spectrum
Hydrocephalus, Morphological abnormality of the gastrointestinal tract, Abnormality of the ureter... ORPHA:1834
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Type II lissencephaly, Ventriculomegaly, Occipital encephalocele, Hydrocephalus ORPHA:324416
Gombo Syndrome
Microphthalmia, Abnormal heart morphology, Delayed puberty OMIM:233270
Fanconi Anemia, Complementation Group O
Renal cyst, Cryptorchidism, Hydronephrosis, Anal atresia, External genital hypoplasia, Abnormal h... OMIM:613390
Kleeblattschaedel
Hydrocephalus OMIM:148800
Diencephalic Syndrome
Decreased body weight, Cachexia, Hydrocephalus ORPHA:1672
Peroxisome Biogenesis Disorder 3A (Zellweger)
Hepatomegaly, Polycystic kidney dysplasia OMIM:614859
Hydrolethalus Syndrome 2
Agenesis of corpus callosum, Anencephaly, Ventriculomegaly, Hydrocephalus OMIM:614120
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Papillary thyroid carcinoma, Goiter, Colon cancer, Renal cortical adenoma, Papillary renal cell c... ORPHA:97290
Nephronophthisis 14
Nephronophthisis, Situs inversus totalis, Polycystic kidney dysplasia OMIM:614844
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
High palate, Renal cyst, Renal hypoplasia, Hypospadias, Short uvula, Polycystic kidney dysplasia,... OMIM:614091
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Polymicrogyria, Colpocephaly, Agenesis of corpus callosum ORPHA:250972
Trisomy 17P
High palate, Hydronephrosis, Urethral stenosis, Hypoplasia of penis, Macroglossia, Polycystic kid... ORPHA:261290
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
High palate, Dilated cardiomyopathy, Enlarged kidney, Macrovesicular hepatic steatosis, Ureteral ... OMIM:608836
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Hydrocephalus, Cerebral atrophy, Microcephaly, Hypoplasia of the corpus callosum, Secondary micro... OMIM:615599
Hereditary Amyloidosis With Primary Renal Involvement
Intestinal perforation, Gastrointestinal hemorrhage, Proteinuria, Renal interstitial amyloid depo... ORPHA:85450
Pontocerebellar Hypoplasia, Type 15
Partial agenesis of the corpus callosum, Simplified gyral pattern, Agenesis of corpus callosum, H... OMIM:619302
Immunodeficiency 103, Susceptibility To Fungal Infections
Decreased serum iron, Lymphadenopathy OMIM:212050
Pyruvate Dehydrogenase E1-Alpha Deficiency
Cerebral atrophy, Agenesis of corpus callosum, Basal ganglia cysts, Basal ganglia gliosis, Small ... ORPHA:79243
Congenital Toxoplasmosis
Ascites, Hepatomegaly, Jaundice, Ventriculomegaly, Microphthalmia, Anemia, Lymphadenopathy, Hydro... ORPHA:858
Craniotelencephalic Dysplasia
Septo-optic dysplasia, Agenesis of corpus callosum, Frontal encephalocele, Microcephaly, Lissence... ORPHA:1528
Immunodeficiency 104
T lymphocytopenia, Pneumonia, Splenomegaly, Hepatomegaly, Lymphadenopathy OMIM:608971
Diabetic Embryopathy
Hydrocephalus, Tetralogy of Fallot, Abnormality of the pancreas, Ureteral duplication, Renal hypo... ORPHA:1926
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy OMIM:616126
Biemond Syndrome Ii
Hydrocephalus OMIM:210350
Biemond Syndrome Type 2
Hypogonadotropic hypogonadism, Microphthalmia, Hydrocephalus, Delayed puberty, Hypospadias, Hypog... ORPHA:141333
Infantile Sialic Acid Storage Disease
High palate, Nephrotic syndrome, Vacuolated lymphocytes, Ascites, Splenomegaly, Hepatomegaly, Con... OMIM:269920
Martsolf Syndrome 2
Microcephaly, Dilation of lateral ventricles, Decreased body weight, Hypoplasia of the corpus cal... OMIM:619420
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Cystic Echinococcosis
Eosinophilia, Renal cyst, Abnormality of the testis size, Abnormality of the pancreas, Biliary tr... ORPHA:400
Aicardi-Goutieres Syndrome 4
Cerebral calcification, Cerebral atrophy, Progressive microcephaly, Ventriculomegaly, CSF lymphoc... OMIM:610333
Burkitt Lymphoma
Abnormality of the liver, Gastrointestinal hemorrhage, Abnormality of the pancreas, Abnormality o... ORPHA:543
22Q11.2 Deletion Syndrome
Hypothyroidism, Gastrointestinal hemorrhage, Tricuspid atresia, Cryptorchidism, Abnormal aortic v... ORPHA:567
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Abnormal myocardium morphology, Hydrocephalus, Hepatic steatosis, Cystic renal dysplasia, Tubuloi... ORPHA:228308
Intellectual Developmental Disorder, Autosomal Dominant 39
Cerebral atrophy, Obesity, Thin corpus callosum, Hydrocephalus OMIM:616521
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Ectopic kidney, Cystic renal dysplasia, Cryptorchidism, Abnormality of the kidney, Hepatomegaly, ... OMIM:613730
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Colonic diverticula, Polycystic kidney dysplasia, Renal insufficiency, Mitral valve prolapse, Hep... OMIM:173900
Mosaic Trisomy 9
Endocardial fibroelastosis, Cryptorchidism, Hydronephrosis, Dextrocardia, Abnormality of the uter... ORPHA:99776
Microphthalmia, Syndromic 12
Anophthalmia, Cryptorchidism, Microphthalmia, Ventricular septal defect, Bicornuate uterus, Pulmo... OMIM:615524
Meckel Syndrome, Type 11
Occipital encephalocele, Polycystic kidney dysplasia OMIM:615397
Familial Papillary Or Follicular Thyroid Carcinoma
Papillary thyroid carcinoma, Goiter, Colon cancer, Papillary renal cell carcinoma, Chronic noninf... ORPHA:319487
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia, Recurrent respiratory infections, Median cleft palate, Hepatomegaly ORPHA:2432
Bardet-Biedl Syndrome 4
Renal cyst, Cryptorchidism, Abnormality of the kidney, External genital hypoplasia, Hypogonadism OMIM:615982
Intellectual Developmental Disorder, X-Linked 103
Dilation of lateral ventricles, Polymicrogyria OMIM:300982
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Abnormal lateral ventricle morphology, Hypoplasia of the corpus callosum ORPHA:488635
Inherited Creutzfeldt-Jakob Disease
Focal T2 hyperintense basal ganglia lesion, Diffuse spongiform leukoencephalopathy, Increased CSF... ORPHA:282166
Bresek Syndrome
Cryptorchidism, Renal hypoplasia, Optic nerve hypoplasia, Aganglionic megacolon, Microphthalmia, ... ORPHA:85284
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Pancytopenia, Hepatosplenomegaly, Increased CSF protein, Colon cancer, Hemophagocytosis, Acute my... ORPHA:158057
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Agyria, Ventriculomegaly, Dandy-Walker malformation, Lissencephaly, Pachygyria, Hydrocephalus, Ty... OMIM:613153
Nphp3-Related Meckel-Like Syndrome
Abnormality of the pancreas, Intestinal malrotation, Abnormal biliary tract morphology, Multicyst... ORPHA:3032
Mmep Syndrome
Cryptorchidism, Microphthalmia, Ventricular septal defect ORPHA:3434
Gracile Syndrome
Increased circulating ferritin concentration, Increased serum pyruvate, Increased serum iron OMIM:603358
Meckel Syndrome 13
Occipital encephalocele, Polycystic kidney dysplasia OMIM:617562
Achondroplasia
Megalencephaly, Hydrocephalus OMIM:100800
Faciothoracogenital Syndrome
Microphthalmia, Shawl scrotum, Glandular hypospadias, Prominent scrotal raphe OMIM:227320
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Splenomegaly, Respiratory tract infecti... ORPHA:444463
Microgastria-Limb Reduction Defect Syndrome
Multicystic kidney dysplasia, Renal dysplasia, Esophagitis, Abnormal lung lobation, Renal agenesi... ORPHA:2538
Branchiootorenal Syndrome 1
Renal agenesis, High palate, Bifid uvula, Euthyroid goiter, Renal malrotation, Intestinal malrota... OMIM:113650
Autoimmune Lymphoproliferative Syndrome, Type Iii
Stage 5 chronic kidney disease, Hepatosplenomegaly, Nephrotic syndrome, Decreased proportion of m... OMIM:615559
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Secondary microcephaly, Cerebral atrophy, Hypoplasia of the corpus callosum, Hydrocephalus ORPHA:397951
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Agenesis of corpus callosum, Hydranencephaly, Ventriculomegaly, Dandy-Walker malformation, Microc... OMIM:225790
Multiple Acyl-Coa Dehydrogenase Deficiency
Glycosuria, Generalized aminoaciduria, Renal cortical cysts, Hepatic steatosis, Proximal tubulopa... OMIM:231680
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Cavum septum pellucidum, Ventriculomegaly, Megalencephaly, Hydrocephalus, Polymicrogyria OMIM:602501
Congenital Fibrinogen Deficiency
Hemorrhagic ovarian cyst, Splenic rupture, Micropenis, Microphthalmia, Volvulus, Right ventricula... ORPHA:335
Hemochromatosis, Type 1
Cardiomegaly, Hypogonadotropic hypogonadism, Amenorrhea, Azoospermia, Splenomegaly, Hepatomegaly,... OMIM:235200
Immunodeficiency 75
Hepatosplenomegaly, Bronchiectasis, Recurrent respiratory infections, Follicular hyperplasia, Lym... OMIM:619126
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Agenesis of corpus callosum, Holoprosencephaly, Hydrocephalus, Absent septum pellucidum, Aqueduct... ORPHA:2182
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus OMIM:260500
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Dextrocardia, Situs inversus totalis, Polycystic kidney dysplasia, Recurrent urinary tract infect... OMIM:613095
Peutz-Jeghers Syndrome
Gastrointestinal hemorrhage, Rectal prolapse, Anemia, Neoplasm of the lung, Renal cell carcinoma,... ORPHA:2869
Triploidy
Abnormality of the pancreas, Abnormality of the gallbladder, Cryptorchidism, Intestinal malrotati... ORPHA:3376
Mckusick-Kaufman Syndrome
Rectovaginal fistula, Cryptorchidism, Hydronephrosis, Aganglionic megacolon, Vaginal atresia, Ana... OMIM:236700
X-Linked Sideroblastic Anemia
Splenomegaly, Abnormality of iron homeostasis ORPHA:75563
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormality of the pancreas, Abnormal testis morphology, Abnormality of the kidney, Neutrophilia,... ORPHA:54251
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus OMIM:258320
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Unilateral renal agenesis, Aplasia of the uterus, Septate vagina, Hydronephrosis, Uterus didelphy... ORPHA:2237
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Choroid plexus cyst, Intestinal malrotation, Ventriculomegaly, Polycystic kidney dysplasia, Hyper... OMIM:617866
Autosomal Recessive Spastic Paraplegia Type 66
Colpocephaly, Hypoplasia of the corpus callosum ORPHA:401815
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Polymicrogyria, Megalencephaly, Hydrocephalus ORPHA:83473
Craniofacial Dyssynostosis With Short Stature
Horseshoe kidney, Cryptorchidism, Ventriculomegaly, Pyloric stenosis, Ventricular septal defect, ... OMIM:218350
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Atrial septal defect, Intestinal malrotation, Micropenis, Hamartoma of tongue, Polycystic kidney ... OMIM:263520
Isolated Polycystic Liver Disease
Abnormality of the pancreas, Gastrointestinal hemorrhage, Gastroesophageal reflux, Polycystic liv... ORPHA:2924
Gómez-López-Hernández Syndrome
Hydrocephalus ORPHA:1532
Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius
Absent septum pellucidum, Aqueductal stenosis, Agenesis of corpus callosum, Hydrocephalus OMIM:307000
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Glomerulonephritis, Splenomegaly, ... OMIM:619375
Pallister-Hall-Like Syndrome
Hypothalamic hamartoma, Occipital encephalocele, Anterior hypopituitarism, Hydrocephalus, Glioma OMIM:241800
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Tetralogy of Fallot, Cryptorchidism, Abnormality of the pulmonary artery, Ventricular septal defe... ORPHA:1166
Neural Tube Defects, Susceptibility To
Spina bifida occulta, Anencephaly, Myelomeningocele, Hydrocephalus OMIM:182940
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Recurrent upper respiratory tract infections, Hepatosplenomegaly, Hemophagocytosis, Colitis, Sple... OMIM:613101
Carnitine Palmitoyltransferase Ii Deficiency
Cystic renal dysplasia, Tubulointerstitial nephritis, Myoglobinuria, Red-brown urine, Polycystic ... ORPHA:157
Multiple Acyl-Coa Dehydrogenase Deficiency
Acute pancreatitis, Lacticaciduria, 3-Methylglutaric aciduria, Hepatic periportal necrosis, Hepat... ORPHA:26791
Short Rib-Polydactyly Syndrome
Nephronophthisis, Abnormality of the liver, Multiple glomerular cysts, Intestinal malrotation, Ab... ORPHA:1505
Immunodeficiency 76
T lymphocytopenia, Recurrent pneumonia, Colitis, Splenomegaly, B lymphocytopenia, Lymphadenopathy... OMIM:619164
Microcephaly-Microcornea Syndrome, Seemanova Type
Microphthalmia, High palate, Hypogonadism ORPHA:2528
Distal Monosomy 12Q
Unilateral cryptorchidism, Ectopic kidney, Congenital hypertrophy of left ventricle, Patent foram... ORPHA:96149
Hypotonia, Infantile, With Psychomotor Retardation
Dilation of lateral ventricles, Hypoplasia of the corpus callosum OMIM:616816
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Enlarged kidney, Micropenis, Intestinal malrotation, Anal atresia, Hamartoma of tongue, Polycysti... OMIM:613091
Kerion Celsi
Lymphadenopathy ORPHA:499
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Agenesis of corpus callosum, Occipital encephalocele, Anencephaly, Ventriculomegaly, Dandy-Walker... OMIM:615287
Fanconi Anemia, Complementation Group L
Bone marrow hypocellularity, Micropenis, Renal hypoplasia, Tracheoesophageal fistula, Anal atresi... OMIM:614083
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Abnormality of the anterior commissure, Fusion of the left and right thalami, Absent hippocampal ... OMIM:617542
Xk Aprosencephaly Syndrome
Atrial septal defect, Abnormal external genitalia, Anal atresia, Microphthalmia, Ventricular sept... ORPHA:3469
Microphthalmia, Syndromic 9
Renal malrotation, Cryptorchidism, Hydronephrosis, Single ventricle, Ventricular septal defect, H... OMIM:601186
Odontochondrodysplasia 1
Recurrent respiratory infections, Nephronophthisis, Pulmonary hypoplasia, Polycystic kidney dyspl... OMIM:184260
Krabbe Disease
Failure to thrive, Diffuse cerebral atrophy, Increased CSF protein, Hydrocephalus OMIM:245200
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Abnormality of the ureter, Aplasia/Hypoplasia of the lungs, Ascites, Splenomegaly, Hypoplasia of ... ORPHA:1046
Tuberous Sclerosis Complex
Renal angiomyolipoma, Renal cyst, Cardiac rhabdomyoma, Pulmonary lymphangiomyomatosis, Abnormalit... ORPHA:805
Acalvaria
Holoprosencephaly, Spina bifida, Hydrocephalus ORPHA:945
Microphthalmia, Isolated 4
Microphthalmia, Absent testis OMIM:613094
Alg2-Cdg
Hyperintensity of cerebral white matter on MRI, Microcephaly, Abnormal basal ganglia MRI signal i... ORPHA:79326
H Syndrome
Microcytic anemia, Hydrocephalus, Enlarged kidney, Hepatosplenomegaly, Histiocytosis, Amenorrhea,... ORPHA:168569
Genitopalatocardiac Syndrome
Renal cyst, Gonadal dysgenesis, male, Hypospadias, Double outlet right ventricle, Ventricular sep... OMIM:231060
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Anophthalmia, Cryptorchidism, Tracheoesophageal fistula, Hypoplasia of penis, Esophageal atresia,... ORPHA:77298
Hemochromatosis, Type 2B
Increased circulating ferritin concentration, Increased serum iron, Elevated transferrin saturati... OMIM:613313
Nasu-Hakola Disease
Cerebral calcification, Cerebral cortical atrophy, Ventriculomegaly, Hydrocephalus ORPHA:2770
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Ventriculomegaly, Hydrocephalus OMIM:618577
Serrated Polyposis Syndrome
Colorectal polyposis, Neoplasm of the large intestine, Biliary tract neoplasm, Prostate cancer, O... ORPHA:157798
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Nanophthalmos 4
Microphthalmia OMIM:615972
Temple Syndrome
Overweight, Truncal obesity, Small for gestational age, Hydrocephalus OMIM:616222
Fanconi Anemia, Complementation Group B
Renal agenesis, Micropenis, Tracheoesophageal fistula, Ventriculomegaly, Esophageal atresia, Opti... OMIM:300514
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Increased CSF protein, Astrocytosis, Failure to thrive, Gliosis, Cerebral cortical neurodegeneration OMIM:203700
Immunodeficiency 48
Splenomegaly, Hepatomegaly, Pneumonia OMIM:269840
Ritscher-Schinzel Syndrome 1
Tetralogy of Fallot, Atrial septal defect, Hydronephrosis, Hypospadias, Double outlet right ventr... OMIM:220210
Hydrocephalus-Obesity-Hypogonadism Syndrome
Azoospermia, Obesity, Hydrocephalus ORPHA:2183
Vacterl/Vater Association
Abnormal morphology of female internal genitalia, Hydronephrosis, Cryptorchidism, Anorectal anoma... ORPHA:887
Primary Ciliary Dyskinesia
Hydrocephalus, Ventriculomegaly, Intestinal malrotation, Respiratory tract infection, Double outl... ORPHA:244
Laryngeal Neuroendocrine Tumor
Adrenocorticotropic hormone excess, Oral-pharyngeal dysphagia, Increased serum serotonin, Chronic... ORPHA:100083
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Hemiparkinsonism-Hemiatrophy Syndrome
Dilation of lateral ventricles, Cerebral cortical hemiatrophy ORPHA:306669
Cutis Laxa, Autosomal Recessive, Type Iib
Microcephaly, Failure to thrive, Agenesis of corpus callosum, Hydrocephalus OMIM:612940
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Hypoplasia of the corpus callosum, Hydrocephalus ORPHA:1516
Mirage Syndrome
Hypoplastic spleen, Aspiration pneumonia, Adrenal insufficiency, Achalasia, Leukopenia, Cryptorch... OMIM:617053
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Reduced amygdala volume, Hypoplastic hippocampus, Microcephaly, Partial agenesis of the corpus ca... OMIM:619517
Trisomy 13
Abnormality of the ureter, Anophthalmia, Atrial septal defect, Hydronephrosis, Abnormal morpholog... ORPHA:3378
Hepatoportal Sclerosis
Intrahepatic portal vein sclerosis, Leukopenia, Gastrointestinal hemorrhage, Periportal fibrosis,... ORPHA:64743
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased CD4:CD8 ratio, Autoimmune thrombocytopenia, Decreased proportion of CD4-positive helper... OMIM:300853
Renal Hypodysplasia/Aplasia 3
Renal agenesis, Horseshoe kidney, Hydronephrosis, Abnormality of the uterus, Multicystic kidney d... OMIM:617805
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Crohn's disease, Acute pancreatitis, Hepatosplenomegaly, Lymphadenitis, Nephrotic syndrome, Recur... OMIM:618935
Greig Cephalopolysyndactyly Syndrome
Agenesis of corpus callosum, Hydrocephalus ORPHA:380
Temple Syndrome
Obesity, Decreased response to growth hormone stimulation test, Small for gestational age, Hydroc... ORPHA:254516
Meckel Syndrome, Type 4
Renal cyst, Atrial septal defect, Bile duct proliferation, Anencephaly, Dandy-Walker malformation... OMIM:611134
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Dandy-Walker malformation, Abnormal cerebral cortex morphology, Ventriculomegaly, Hydrocephalus ORPHA:163961
Orofaciodigital Syndrome I
Tongue nodules, High palate, Myelomeningocele, Pancreatic cysts, Proteinuria, Lobulated tongue, H... OMIM:311200
Mu-Heavy Chain Disease
Splenomegaly, Hepatomegaly, Bence Jones Proteinuria, Anemia, Abnormal B cell count, Lymphadenopat... ORPHA:100024
Papillary Tumor Of The Pineal Region
Increased CSF protein, Hydrocephalus ORPHA:251915
Marden-Walker Syndrome
High palate, Micropenis, Zollinger-Ellison syndrome, Renal hypoplasia, Cryptorchidism, Hypospadia... OMIM:248700
Congenital Muscular Dystrophy, Fukuyama Type
Aplasia/Hypoplasia of the corpus callosum, Type II lissencephaly, Ventriculomegaly, Hydrocephalus ORPHA:272
3C Syndrome
Abnormal mitral valve morphology, Hydronephrosis, High, narrow palate, Dandy-Walker malformation,... ORPHA:7
Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia
Abnormal cerebral white matter morphology, Hydrocephalus OMIM:600991
Trisomy 1Q
Small scrotum, Anophthalmia, Cryptorchidism, Hydronephrosis, Ventriculomegaly, Anal atresia, Mult... ORPHA:261344
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Hypoplasia of penis, Abnormality of the upper urinary tract, Microphthalmia, Duodenal stenosis, H... ORPHA:2547
Immunodeficiency 14A, Autosomal Dominant
T lymphocytopenia, Splenomegaly, Bronchiectasis, Recurrent respiratory infections, Lymphadenopath... OMIM:615513
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Microcephaly, Dilation of lateral ventricles, Hypoplasia of the corpus callosum OMIM:618890
Kimura Disease
Follicular hyperplasia, Lymphadenopathy ORPHA:482
Fryns Syndrome
High palate, Ectopic anus, Tetralogy of Fallot, Cryptorchidism, Intestinal malrotation, Gastroeso... ORPHA:2059
Desmoplastic Small Round Cell Tumor
Ileus, Testicular neoplasm, Hepatomegaly, Ovarian neoplasm, Anemia, Neoplasm of the lung, Lymphad... ORPHA:83469
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Macroorchidism, Hydrocephalus OMIM:300886
Congenital Rubella Syndrome
Atrial septal defect, Splenomegaly, Hepatomegaly, Jaundice, Microphthalmia, Anemia, Aplasia/Hypop... ORPHA:290
Peroxisome Biogenesis Disorder 5A (Zellweger)
Renal cyst, Hepatosplenomegaly, Renal cortical microcysts, Cryptorchidism, Splenomegaly, Intrahep... OMIM:614866
Meckel Syndrome
Aplasia/Hypoplasia of the tongue, Accessory spleen, Cryptorchidism, Multicystic kidney dysplasia,... ORPHA:564
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia, Cleft palate OMIM:616570
Mental Retardation, Buenos Aires Type
Microcephaly, Failure to thrive, Partial agenesis of the corpus callosum, Hydrocephalus OMIM:249630
Cat-Eye Syndrome
Hydronephrosis, Anal atresia, Abnormal localization of kidney, Microphthalmia, Renal hypoplasia/a... ORPHA:195
Granulomatous Slack Skin
Abnormality of the lymph nodes, Hypercalcemia ORPHA:33111
Oculocerebrocutaneous Syndrome
Anophthalmia, Cryptorchidism, Dandy-Walker malformation, Microphthalmia, Orbital encephalocele, C... OMIM:164180
Phelan-Mcdermid Syndrome
High palate, Gastroesophageal reflux, Abnormality of the kidney, Ventriculomegaly, Polycystic kid... OMIM:606232
Immunodeficiency 52
Recurrent pneumonia, Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly,... OMIM:617514
Pfapa Syndrome
Splenomegaly, Hepatomegaly, Malabsorption, Lymphadenopathy, Recurrent pharyngitis ORPHA:42642
Dandy-Walker Malformation With Postaxial Polydactyly
Dandy-Walker malformation, Posterior fossa cyst at the fourth ventricle, Dilated fourth ventricle... OMIM:220220
Bronchogenic Cyst
Abnormal stomach morphology, Abnormal myocardium morphology, Bronchogenic cyst, Pneumonia, Abnorm... ORPHA:2357
Distal 7Q11.23 Microduplication Syndrome
Frontal encephalocele, Hydrocephalus ORPHA:261102
Genitopalatocardiac Syndrome
Hydrocephalus, Gonadal dysgenesis, male, Abnormality of the gallbladder, Cryptorchidism, Multicys... ORPHA:2075
Immunodeficiency With Hyper-Igm, Type 5
Epididymitis, Lymphadenopathy, Recurrent upper and lower respiratory tract infections OMIM:608106
Griscelli Syndrome
Leukopenia, Bone marrow hypocellularity, Ascites, Splenomegaly, Hepatomegaly, Jaundice, Abnormali... ORPHA:381
Congenital Disorder Of Glycosylation, Type Iil
Unilateral renal agenesis, Pancytopenia, Cholestasis, Atrial septal defect, Proximal tubulopathy,... OMIM:614576
Pseudotrisomy 13 Syndrome
Complete atrioventricular canal defect, Renal agenesis, Tricuspid atresia, Atrial septal defect, ... OMIM:264480
Gracile Bone Dysplasia
Hypoplastic spleen, Micropenis, Ascites, Microphthalmia, Aniridia, Asplenia, Hydrocephalus, Ankyl... OMIM:602361
Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction
Astrocytosis OMIM:172500
Microphthalmia-Brain Atrophy Syndrome
Microcephaly, Dilation of lateral ventricles, Diffuse cerebral atrophy, Corpus callosum atrophy ORPHA:77299
Intellectual Developmental Disorder, Autosomal Dominant 48
Dilated fourth ventricle, Microcephaly, Polymicrogyria, Hypoplasia of the corpus callosum, Dilati... OMIM:617751
Immunodeficiency 91 And Hyperinflammation
Recurrent pneumonia, Hepatosplenomegaly, Nephrotic syndrome, Hemolytic-uremic syndrome, Monocytos... OMIM:619644
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Hydrocephalus, Enlarged kidney, Atrioventricular canal defect, Hydronephrosis, Tracheoesophageal ... OMIM:314390
Oculogastrointestinal Neurodevelopmental Syndrome
Horseshoe kidney, Anal atresia, Vaginal fistula, Bicuspid aortic valve, Bilateral microphthalmos,... OMIM:619318
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Renal cyst, Polycystic liver disease, Increased total bilirubin, Ascites OMIM:174050
Joubert Syndrome 37
High palate, Micropenis, Cryptorchidism, Hydronephrosis, Hepatomegaly, Microphthalmia, Decreased ... OMIM:619185
Fanconi Anemia, Complementation Group F
Leukopenia, Bone marrow hypocellularity, Pneumonia, Atrial septal defect, Renal hypoplasia, Crypt... OMIM:603467
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Splenomegaly, Elevated urinary delta-aminolevulinic acid, Jaundice OMIM:206400
Pentalogy Of Cantrell
Renal agenesis, Tetralogy of Fallot, Absent gallbladder, Encephalocele, Abnormal pericardium morp... ORPHA:1335
Pleural Mesothelioma
Abnormal pleura morphology, Hepatomegaly, Pleural effusion, Dysphagia, Lymphadenopathy, Abnormal ... ORPHA:50251
Ventriculomegaly With Defects Of The Radius And Kidney
Dilation of lateral ventricles, Ventriculomegaly, Hydrocephalus OMIM:602200
Hydrocephalus, Congenital Communicating, 1
Communicating hydrocephalus, Ventriculomegaly OMIM:618667
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Microcephaly, Dilation of lateral ventricles, Small for gestational age OMIM:619278
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Colpocephaly, Ventriculomegaly, Simplified gyral pattern, Lissencephaly OMIM:615219
Coach Syndrome 1
Unilateral renal agenesis, Nephronophthisis, Renal cyst, Portal hypertension, Multiple small medu... OMIM:216360
Tetraamelia-Multiple Malformations Syndrome
Septo-optic dysplasia, Aplasia/Hypoplasia of the lungs, Cryptorchidism, Vaginal atresia, Anal atr... ORPHA:3301
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
High palate, Hepatosplenomegaly, Micropenis, Hydronephrosis, Cryptorchidism, Abnormally large glo... ORPHA:1655
Meckel Syndrome, Type 6
Absent gallbladder, Renal cyst, Horseshoe kidney, Bile duct proliferation, Occipital encephalocel... OMIM:612284
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Agenesis of corpus callosum, Dandy-Walker malformation, Microcephaly, Spina bifida occulta, Dilat... OMIM:618736
Pierpont Syndrome
Cryptorchidism, Microphthalmia, Ventriculomegaly ORPHA:487825
Warburg Micro Syndrome 1
Cryptorchidism, Microphthalmia, Enlarged sylvian cistern, External genital hypoplasia OMIM:600118
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Fluctuating splenomegaly, Bronchiectasi... OMIM:619220
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Type II lissencephaly, Leukoencephalopathy, Polymicrogyria, Hydrocephalus OMIM:615181
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Crohn's disease, Recurrent upper respiratory tract infections, Autoimmune hemolytic anemia, Lymph... OMIM:616100
Immunodeficiency With Hyper-Igm, Type 2
Recurrent respiratory infections, Recurrent infection of the gastrointestinal tract, Lymphadenopa... OMIM:605258
Trimethylaminuria
Recurrent pneumonia, Trimethylaminuria, Splenomegaly, Neutropenia, Anemia OMIM:602079
Congenital Disorder Of Glycosylation, Type Ik
Cardiomyopathy, Splenomegaly, Hepatomegaly, Hypogonadism OMIM:608540
Arima Syndrome
Occipital meningocele, Hepatic steatosis, Stage 5 chronic kidney disease, Dilated fourth ventricl... OMIM:243910
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Failure to thrive in infancy, Primary microcephaly, Simplified gyral pattern, Lissencephaly, Hypo... ORPHA:284417
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Recurrent upper respiratory tract infections, Pneumonia, Absent tonsils, Genital ulcers, Aplasia ... OMIM:602450
Immunodeficiency 64
Hepatosplenomegaly, Abnormal CD4:CD8 ratio, Autoimmune hemolytic anemia, Autoimmune thrombocytope... OMIM:618534
Chromosome 1Q41-Q42 Deletion Syndrome
Cryptorchidism, Holoprosencephaly, Microphthalmia, Cleft palate OMIM:612530
Emanuel Syndrome
Unilateral renal agenesis, Infertility, Bifid uvula, Cryptorchidism, Dandy-Walker malformation, D... ORPHA:96170
Meckel Syndrome, Type 10
Renal cyst, Micropenis, Occipital encephalocele, Anencephaly, Cleft palate, Hypospadias OMIM:614175
Hypogonadism, Male
Micropenis, Male hypogonadism, Hypospadias, Testicular atrophy OMIM:241100
Melanosis, Neurocutaneous
Dandy-Walker malformation, Choroid plexus papilloma, Hydrocephalus OMIM:249400
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Hepatic cysts, Polycystic kidney dysplasia OMIM:600666
X-Linked Parkinsonism-Spasticity Syndrome
Dilated third ventricle, Dilation of lateral ventricles, Diffuse cerebral atrophy ORPHA:363654
Coach Syndrome 2
Agenesis of corpus callosum, Hydrocephalus OMIM:619111
Renal-Hepatic-Pancreatic Dysplasia 2
Enlarged kidney, Cystic renal dysplasia, Cholestasis, Hypertrophic cardiomyopathy, Hepatomegaly, ... OMIM:615415
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Cholestasis, Chronic kidney disease, Splenomegaly, Hepatomegaly, Ventriculomegaly, Ventricular se... OMIM:615630
Anemia, Hypochromic Microcytic, With Iron Overload 2
Poikilocytosis, Azoospermia, Splenomegaly, Hepatomegaly, Anemia, Decreased mean corpuscular volum... OMIM:615234
Fanconi Anemia, Complementation Group D2
Pancytopenia, Cryptorchidism, Anemia, Thrombocytopenia, Renal agenesis, Micropenis, Tracheoesopha... OMIM:227646
Immunodeficiency, Common Variable, 1
Recurrent pneumonia, Pneumonia, Splenomegaly, Hepatomegaly, Recurrent bronchitis, Bronchiectasis,... OMIM:607594
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies
Renal cyst, Multinodular goiter OMIM:138790
Fanconi Anemia, Complementation Group I
Hypothyroidism, Colpocephaly, Horseshoe kidney, Bone marrow hypocellularity, Patent foramen ovale... OMIM:609053
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cryptorchidism, Microphthalmia, Hypogonadism, Hydrocephalus OMIM:601794
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatomegaly, Dilated cardiomyopathy, Lymphadenopathy OMIM:615895
Hemochromatosis, Type 2A
Dilated cardiomyopathy, Hypogonadotropic hypogonadism, Infertility, Amenorrhea, Azoospermia, Sple... OMIM:602390
Encephalocraniocutaneous Lipomatosis
Hypoplasia of the iris, Atrial septal defect, Hydronephrosis, Subvalvular aortic stenosis, Crypto... OMIM:613001
Hardikar Syndrome
Cholestasis, Cholangitis, Bile duct proliferation, Hydronephrosis, Hematemesis, Ventricular septa... OMIM:301068
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Renal agenesis, Micropenis, Renal hypoplasia, Cryptorchidism, Hydrocephalus, Hypospadias ORPHA:171839
Pierpont Syndrome
Micropenis, Microphthalmia, Cryptorchidism OMIM:602342
Coproporphyria, Hereditary
Splenomegaly, Increased urinary porphobilinogen, Jaundice, Hepatomegaly, Increased fecal copropor... OMIM:121300
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Agenesis of corpus callosum, Ventriculomegaly, Abnormal periventricular white matter morphology, ... OMIM:618476
Greig Cephalopolysyndactyly Syndrome
Agenesis of corpus callosum, Ventriculomegaly, Hydrocephalus OMIM:175700
Holoprosencephaly-Postaxial Polydactyly Syndrome
Hydrocephalus, Abnormality of the hypothalamus-pituitary axis, Cryptorchidism, Intestinal malrota... ORPHA:2166
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Agenesis of corpus callosum, Ventriculomegaly, Hydrocephalus OMIM:109120
Lig4 Syndrome
Pancytopenia, Hypothyroidism, Leukocytosis, Cryptorchidism, Hypoplasia of penis, Hepatomegaly, Ma... ORPHA:99812
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Microcephaly, Polymicrogyria, Colpocephaly OMIM:618731
Crouzon Syndrome With Acanthosis Nigricans
Hydrocephalus OMIM:612247
Roberts-Sc Phocomelia Syndrome
High palate, Horseshoe kidney, Enlarged labia minora, Accessory spleen, Atrial septal defect, Cry... OMIM:268300
Isolated Follicle Stimulating Hormone Deficiency
Gonadotropin deficiency, Abnormal sperm morphology, Hypogonadotropic hypogonadism, Female hypogon... ORPHA:52901
Combined Immunodeficiency Due To Zap70 Deficiency
Eosinophilia, Lymphadenitis, Hepatosplenomegaly, Nephrotic syndrome, Pneumonia, Colitis, Autoimmu... ORPHA:911
Meckel Syndrome, Type 9
Multicystic kidney dysplasia, Ambiguous genitalia, Occipital encephalocele OMIM:614209
Immunodeficiency, Common Variable, 2
Recurrent pneumonia, Splenomegaly, Hepatomegaly, Recurrent bronchitis, Bronchiectasis, Recurrent ... OMIM:240500
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Splenomegaly, Elevated transferrin saturation, Unco... ORPHA:766
Lymphangioleiomyomatosis
Emphysema, Renal angiomyolipoma, Chylothorax, Renal neoplasm, Abnormal urinary color, Gastrointes... ORPHA:538
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Splenomegaly, Hepatomegaly ORPHA:46532
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects
Spina bifida occulta, Myelomeningocele, Hydrocephalus OMIM:183802
Follicular Lymphoma
Splenomegaly, Pleural effusion, Lymphadenopathy, Abnormality of the peritoneum, Mediastinal lymph... ORPHA:545
Renal Tubular Dysgenesis
Tetralogy of Fallot, Proximal tubulopathy, Nephropathy, Renotubular dysgenesis, Pulmonary hypopla... ORPHA:3033
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Splenomegaly, Hepatomegaly, Jaundice, Neutropenia, Anemia, Lymphadenopathy, Thr... OMIM:603552
Neonatal Severe Primary Hyperparathyroidism
Abnormal calcium-phosphate regulating hormone level, Abnormality of the thyroid gland, Splenomega... ORPHA:417
Simpson-Golabi-Behmel Syndrome, Type 2
High palate, Recurrent upper respiratory tract infections, Pneumonia, Micropenis, Multicystic kid... OMIM:300209
Acrorenal-Mandibular Syndrome
Renal agenesis, High palate, Abnormality of the ureter, Absent nipple, Uterus didelphys, Bicornua... OMIM:200980
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:86893
Floating-Harbor Syndrome
Epididymal cyst, Renal agenesis, Tetralogy of Fallot, Nephrocalcinosis, Mesocardia, Renal cyst, V... ORPHA:2044
Hemochromatosis Type 2
Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormality of iro... ORPHA:79230
Intellectual Developmental Disorder, X-Linked 30
Microcephaly, Hydrocephalus OMIM:300558
Pallister-Hall Syndrome
Cryptorchidism, Hydronephrosis, Panhypopituitarism, Renal dysplasia, Ventricular septal defect, A... OMIM:146510
Roberts Syndrome
High palate, Cryptorchidism, Long penis, Polycystic kidney dysplasia, Microphthalmia, Thrombocyto... ORPHA:3103
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Webbed neck, Cryptorchidism, Hypertrophic cardiomyopathy, Pulmonic stenosis, Hydrocephalus ORPHA:2701
Focal Facial Dermal Dysplasia Type Iv
Microcephaly, Hydrocephalus ORPHA:398189
Pagod Syndrome
Encephalocele, Pulmonary artery hypoplasia, Abnormal morphology of female internal genitalia, Sit... ORPHA:991
Meckel Syndrome, Type 3
Bile duct proliferation, Occipital encephalocele, Hepatomegaly, Multicystic kidney dysplasia, Dan... OMIM:607361
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
High palate, Renal cyst, Stage 5 chronic kidney disease, Bifid uvula, Cholestasis, Hepatomegaly, ... OMIM:266920
Nephronophthisis 20
Nephronophthisis, Renal cyst, Stage 5 chronic kidney disease, Renal insufficiency OMIM:617271
6P22 Microdeletion Syndrome
Hydrocephalus ORPHA:251046
Williams-Beuren Region Duplication Syndrome
Unilateral renal agenesis, High palate, Cryptorchidism, Hydronephrosis, Ventriculomegaly, Hydroce... OMIM:609757
Rere-Related Neurodevelopmental Syndrome
Cryptorchidism, Gastroesophageal reflux, Ventriculomegaly, Microphthalmia, Abnormal heart morphol... ORPHA:494344
Linear Skin Defects With Multiple Congenital Anomalies 3
Failure to thrive, Dilation of lateral ventricles, Agenesis of corpus callosum OMIM:300952
Chromosome 13Q33-Q34 Deletion Syndrome
High palate, Encephalocele, Cryptorchidism, Anencephaly, Anal atresia, Pulmonic stenosis, Dandy-W... OMIM:619148
Intellectual Developmental Disorder, Autosomal Dominant 36
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Microcephaly, Hypoplasia of the cor... OMIM:616362
Renal Dysplasia, Cystic, Susceptibility To
Cystic renal dysplasia, Renal dysplasia, Hyperechogenic kidneys, Renal insufficiency, Vesicourete... OMIM:601331
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Anterior encephalocele, Hydrocephalus OMIM:614195
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Hydrocephalus, Pachygyria, Thick corpus callosum, Megalencephaly, Hypoplasia of the corpus callos... OMIM:603387
Cofs Syndrome
Microphthalmia, Hypogonadism ORPHA:1466
Neutropenia, Severe Congenital, 4, Autosomal Recessive
High palate, Leukopenia, Monocytosis, Atrial septal defect, Cor triatriatum, Hydronephrosis, Cryp... OMIM:612541
Tyrosinemia Type 1
Generalized aminoaciduria, Hepatocellular carcinoma, Splenomegaly, Hepatomegaly ORPHA:882
Meckel Syndrome, Type 2
Renal cyst, Bile duct proliferation, Anencephaly, Dandy-Walker malformation, Microphthalmia, Meni... OMIM:603194
Nephronophthisis 18
Stage 5 chronic kidney disease, Cholestasis, Tubulointerstitial nephritis, Thickened glomerular b... OMIM:615862
Fryns Syndrome
Cryptorchidism, Hydronephrosis, Dandy-Walker malformation, Ventricular septal defect, Cleft palat... OMIM:229850
Congenital Muscular Dystrophy With Cerebellar Involvement
Agenesis of corpus callosum, Dilated fourth ventricle, Occipital encephalocele, Ventriculomegaly,... ORPHA:370959
Niemann-Pick Disease, Type B
Splenomegaly, Hepatomegaly, Anemia, Recurrent respiratory infections, Bone-marrow foam cells, Thr... OMIM:607616
Hemochromatosis, Neonatal
Increased circulating ferritin concentration, Increased serum iron, Abnormality of iron homeostasis OMIM:231100
Cholestasis-Lymphedema Syndrome
Splenomegaly, Hepatomegaly, Jaundice, Conjugated hyperbilirubinemia, Malabsorption, Cirrhosis, Ne... OMIM:214900
Symptomatic Form Of Hemochromatosis Type 1
Cardiomegaly, Hypogonadotropic hypogonadism, Portal hypertension, Infertility, Hypothyroidism, Am... ORPHA:465508
Rhyns Syndrome
Multicystic kidney dysplasia, Nephronophthisis, Abnormality of the liver, Hypopituitarism ORPHA:140976
Hydrolethalus
Agenesis of corpus callosum, Anencephaly, Tracheal atresia, Hydrocephalus, Absent septum pellucid... ORPHA:2189
Congenital Bile Acid Synthesis Defect Type 1
Gastrointestinal hemorrhage, Splenomegaly, Hepatomegaly, Jaundice, Malabsorption, Biliary tract a... ORPHA:79301
Pontocerebellar Hypoplasia, Type 13
Hypoplastic hippocampus, Dandy-Walker malformation, Microcephaly, Failure to thrive, Hypoplasia o... OMIM:618606
Kaposiform Lymphangiomatosis
Enlarged kidney, Hepatosplenomegaly, Lymphangioma, Pancreatic cysts, Splenomegaly, Pleural effusi... ORPHA:464329
Mixed Connective Tissue Disease
Leukopenia, Gastrointestinal hemorrhage, Gastroesophageal reflux, Splenomegaly, Myocarditis, Hepa... ORPHA:809
D-2-Hydroxyglutaric Aciduria 1
Dilation of lateral ventricles, Multifocal cerebral white matter abnormalities, Subependymal cysts OMIM:600721
Msh3-Related Attenuated Familial Adenomatous Polyposis
Colorectal polyposis, Renal cyst, Colon cancer, Neoplasm of the rectum, Juvenile gastrointestinal... ORPHA:480536
Autoinflammation With Episodic Fever And Lymphadenopathy
Microcytic anemia, Splenomegaly, Hepatomegaly, Recurrent tonsillitis, Lymphadenopathy OMIM:618852
Indomethacin Embryofetopathy
Abnormal renal tubule morphology, Atrial septal defect, Multicystic kidney dysplasia, Cardiomyopa... ORPHA:1909
Dandy-Walker Malformation With Mental Retardation, Macrocephaly, Myopia, And Brachytelephalangy
Dandy-Walker malformation, Posterior fossa cyst at the fourth ventricle, Dilated fourth ventricle... OMIM:220219
Meckel Syndrome, Type 7
Biliary cirrhosis, Hepatosplenomegaly, Multiple glomerular cysts, Pancreatic cysts, Cholestasis, ... OMIM:267010
Immunodeficiency With Hyper-Igm, Type 4
Recurrent upper respiratory tract infections, Absence of lymph node germinal center, Autoimmune t... OMIM:608184
Immunodeficiency 27A
Hepatosplenomegaly, Leukocytosis, Histiocytosis, Pneumonia, Thrombocytosis, Splenomegaly, Enlarge... OMIM:209950
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
High palate, Micropenis, Hydronephrosis, Cryptorchidism, Pancreatic lymphangiectasis, Splenomegal... OMIM:235255
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Failure to thrive, Polymicrogyria, Ventriculomegaly, Hydrocephalus ORPHA:60040
Immunodeficiency 54
Adrenal insufficiency, Adrenocorticotropic hormone excess, Splenomegaly, Hepatomegaly, Recurrent ... OMIM:609981
Birt-Hogg-Dube Syndrome
Renal cyst, Renal neoplasm, Spontaneous pneumothorax, Colon cancer, Multiple pulmonary cysts, Lar... OMIM:135150
Squamous Cell Carcinoma Of The Anal Canal
Anal stenosis, Neoplasm of the rectum, Neoplasm of the liver, Rectal prolapse, Neoplasm of the lu... ORPHA:424019
Wolfram Syndrome 1
Hypothyroidism, Sideroblastic anemia, Diabetes insipidus, Hydronephrosis, Megaloblastic anemia, T... OMIM:222300
Chiari Malformation Type Ii
Myelomeningocele, Agenesis of corpus callosum, Spina bifida, Hydrocephalus, Cervical myelopathy OMIM:207950
Thomas Syndrome
Multicystic kidney dysplasia, Hypoplastic left heart, Cleft palate, Renal hypoplasia/aplasia ORPHA:3316
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Decreased mean corpuscular hemoglobin concentration, Sickled ... ORPHA:90039
Nephroblastoma
Hematuria, Neoplasm of the liver, Neoplasm of the lung, Aniridia, Nephroblastoma, Lymphadenopathy ORPHA:654
Czeizel-Losonci Syndrome
High palate, Myelomeningocele, Hydronephrosis, Tracheoesophageal fistula, Dextrocardia, Ureteral ... ORPHA:2437
Tetraamelia Syndrome 1
Renal agenesis, Adrenal gland agenesis, Vaginal atresia, Anal atresia, Peripheral pulmonary vesse... OMIM:273395
Autosomal Dominant Non-Syndromic Intellectual Disability
Cerebral atrophy, Abnormal hippocampus morphology, Leukoencephalopathy, Bilateral generalized pol... ORPHA:178469
Heterotaxy, Visceral, 1, X-Linked
Bilateral trilobed lungs, Total anomalous pulmonary venous return, Dextrocardia, Double outlet ri... OMIM:306955
Mend Syndrome
High palate, Cryptorchidism, Dandy-Walker malformation, Hydrocephalus, Aortic valve stenosis OMIM:300960
Kleefstra Syndrome
Tetralogy of Fallot, Renal cyst, Micropenis, Hydronephrosis, Gastroesophageal reflux, Cryptorchid... ORPHA:261494
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Agyria, Progressive microcephaly, Agenesis of corpus callosum, Microcephaly, Lissencephaly, Hydro... OMIM:615249
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Dysplastic corpus callosum, Progressive microcephaly, Failure to thrive in infancy, Ventriculomeg... ORPHA:488627
Hodgkin Lymphoma
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:98293
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia OMIM:251505
Galactosemia Iii
Splenomegaly, Hepatomegaly, Jaundice, Aminoaciduria, Galactosuria OMIM:230350
Roifman Syndrome
Eosinophilia, Hypogonadotropic hypogonadism, Recurrent pneumonia, Hepatosplenomegaly, Lymphadenop... ORPHA:353298
Microphthalmia, Syndromic 8
Cryptorchidism, Microphthalmia, Cleft palate OMIM:601349
Hyperbilirubinemia, Shunt, Primary
Splenomegaly, Hepatomegaly, Jaundice, Erythroid hyperplasia, Hyperbilirubinemia, Reticulocytosis,... OMIM:237800
Immunodeficiency 72 With Autoinflammation
Hepatosplenomegaly, Increased proportion of memory T cells, Bronchiectasis, Lymphadenopathy, Incr... OMIM:618982
Functioning Gonadotropic Adenoma
Infertility, Panhypopituitarism, Ovarian cyst, Adrenocorticotropic hormone deficiency, Oligosperm... ORPHA:91348
Vacterl With Hydrocephalus
Renal agenesis, Hydrocephalus, Anophthalmia, Cryptorchidism, Tracheoesophageal fistula, Esophagea... ORPHA:3412
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Premature Ovarian Failure 12
Microphthalmia, Primary amenorrhea OMIM:616947
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Unilateral renal agenesis, High palate, Hypogonadotropic hypogonadism, Hypothalamic gonadotropin-... OMIM:308700
Lymphatic Filariasis
Hypereosinophilia, Lymphadenitis, Nephrotic syndrome, Hematuria, Proteinuria, Orchitis, Lymphangi... ORPHA:2035
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Neurofibrillary tangles, Lewy bodies, Cerebral cortical atrophy, Gliosis, Dilation of lateral ven... OMIM:607485
Heme Oxygenase 1 Deficiency
Diffuse alveolar hemorrhage, Hematuria, Proteinuria, Thrombocytosis, Coombs-positive hemolytic an... OMIM:614034
Neurooculocardiogenitourinary Syndrome
Patent foramen ovale, Atrial septal defect, Microphthalmia, Ventricular septal defect, Bilateral ... OMIM:618652
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation
Microphthalmia, Cleft palate, Hematuria OMIM:120433
Autoimmune Lymphoproliferative Syndrome, Type Iia
Eosinophilia, Nephrotic syndrome, Gastrointestinal hemorrhage, Coombs-positive hemolytic anemia, ... OMIM:603909
Hydrocephalus With Associated Malformations
Hydrocephalus OMIM:236640
Microphthalmia, Isolated, With Coloboma 6
Bilateral microphthalmos, Optic disc hypoplasia, Hypoplasia of the fovea OMIM:613703
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multicystic kidney dysplasia, Multinodular goiter ORPHA:2091
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Bilateral microphthalmos, Holoprosencephaly, Anophthalmia OMIM:611638