Genes Phenotypes Help, News, Blog

Please enable javascript if you want to log in to follow or stop following this gene.

Gene: Pdcd6ip MGI:1333753

Gene Summary

Name:

programmed cell death 6 interacting protein

Synonyms:

Alix, AIP1

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
abnormal spleen morphology	Pdcd6ip^em1(IMPC)Mbp	HOM	Late adult	0.00
microphthalmia	Pdcd6ip^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal brain morphology	Pdcd6ip^em1(IMPC)Mbp	HOM	Early adult	0.00
decreased body length	Pdcd6ip^em1(IMPC)Mbp	HOM	Late adult	2.41×10^-05
abnormal lung morphology	Pdcd6ip^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal eye morphology	Pdcd6ip^em1(IMPC)Mbp	HOM	Late adult	0.00
thick skin	Pdcd6ip^em1(IMPC)Mbp	HOM	Late adult	0.00
decreased brain weight	Pdcd6ip^em1(IMPC)Mbp	HOM	Early adult	8.32×10^-42
decreased food intake	Pdcd6ip^{em1(IMPC)Hmgu}	HOM	Late adult	1.30×10^-05
hydrocephaly	Pdcd6ip^em1(IMPC)Mbp	HOM	Late adult	0.00
preweaning lethality, incomplete penetrance	Pdcd6ip^em1(IMPC)Mbp	HOM	Early adult	0.00
enlarged lymph nodes	Pdcd6ip^{em1(IMPC)Hmgu}	HOM	Late adult	0.00
small testis	Pdcd6ip^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal testis morphology	Pdcd6ip^em1(IMPC)Mbp	HOM	Late adult	0.00
enlarged lymph nodes	Pdcd6ip^em1(IMPC)Mbp	HOM	Late adult	0.00
decreased heart weight	Pdcd6ip^em1(IMPC)Mbp	HOM	Late adult	6.55×10^-11
increased mean platelet volume	Pdcd6ip^em1(IMPC)Mbp	HOM	Early adult	4.57×10^-05
decreased brain size	Pdcd6ip^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal stomach morphology	Pdcd6ip^em1(IMPC)Mbp	HOM	Late adult	0.00
small heart	Pdcd6ip^em1(IMPC)Mbp	HOM	Early adult	0.00
decreased circulating bilirubin level	Pdcd6ip^em1(IMPC)Mbp	HOM	Late adult	1.05×10^-05
enlarged stomach	Pdcd6ip^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal seminal vesicle morphology	Pdcd6ip^em1(IMPC)Mbp	HOM	Late adult	0.00
small kidney	Pdcd6ip^em1(IMPC)Mbp	HOM	Late adult	0.00
polycystic kidney	Pdcd6ip^em1(IMPC)Mbp	HOM	Late adult	0.00
enlarged seminal vesicle	Pdcd6ip^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal brain morphology	Pdcd6ip^em1(IMPC)Mbp	HOM	Late adult	0.00
increased grip strength	Pdcd6ip^em1(IMPC)Mbp	HOM	Late adult	4.14×10^-05
increased circulating alkaline phosphatase level	Pdcd6ip^em1(IMPC)Mbp	HOM	Early adult	7.67×10^-05
abnormal skin morphology	Pdcd6ip^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal lymph node morphology	Pdcd6ip^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal testis morphology	Pdcd6ip^em1(IMPC)Mbp	HOM	Early adult	0.00
increased grip strength	Pdcd6ip^{em1(IMPC)Hmgu}	HOM	Late adult	1.12×10^-09
enlarged spleen	Pdcd6ip^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal kidney morphology	Pdcd6ip^em1(IMPC)Mbp	HOM	Late adult	0.00
decreased brain size	Pdcd6ip^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal heart morphology	Pdcd6ip^em1(IMPC)Mbp	HOM	Early adult	0.00
increased blood urea nitrogen level	Pdcd6ip^em1(IMPC)Mbp	HOM	Late adult	3.46×10^-05
decreased body length	Pdcd6ip^em1(IMPC)Mbp	HOM	Early adult	7.30×10^-05
small testis	Pdcd6ip^em1(IMPC)Mbp	HOM	Early adult	0.00

Download data as: TSV XLS

Select physiological systems to view:

Viewing: all phenotypes

Select physiological systems to view:

Viewing: all phenotypes

Histopathology

Images

8 Images

View 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.

Human diseases associated with Pdcd6ip (1 diseases)
Human diseases predicted to be associated with Pdcd6ip (1557 diseases)

The table below shows human diseases associated to Pdcd6ip by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Microcephaly 29, Primary, Autosomal Recessive		Reduced renal corticomedullary differentiation, Hyperechogenic kidneys	OMIM:620047

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

Disease	Matching phenotypes	Source
Hydrocephalus, Congenital, 1	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	Reduced natural killer cell count, Adrenocorticotropic hormone excess, Adrenal insufficiency, Lym...	OMIM:609981
Czeizel-Losonci Syndrome	Ureteral agenesis, Congenital megaureter, Myelomeningocele, High palate, Spina bifida, Hydrocepha...	ORPHA:2437
Autoinflammation With Episodic Fever And Lymphadenopathy	Lymphadenopathy, Hepatomegaly, Splenomegaly, Microcytic anemia, Recurrent tonsillitis	OMIM:618852
Hydrolethalus	Anencephaly, Arrhinencephaly, Hydrocephalus, Tracheal atresia, Agenesis of corpus callosum	ORPHA:2189
Microphthalmia, Isolated, With Coloboma 4	Microphthalmia	OMIM:251505
Mosaic Variegated Aneuploidy Syndrome 1	Nephroblastoma, Ambiguous genitalia, Multicystic kidney dysplasia, Ventriculomegaly, Bifid scrotu...	OMIM:257300
Neurooculocardiogenitourinary Syndrome	Patent foramen ovale, Ventricular septal defect, Bilateral cryptorchidism, Atrial septal defect, ...	OMIM:618652
Polymicrogyria Due To Tubb2B Mutation	Agenesis of corpus callosum, Lateral ventricle dilatation	ORPHA:300573
Squamous Cell Carcinoma Of The Anal Canal	Neoplasm of the rectum, Neoplasm of the liver, Lymphadenopathy, Intestinal bleeding, Anal canal s...	ORPHA:424019
Wolfram Syndrome 1	Hypothyroidism, Diabetes insipidus, Cardiomyopathy, Megaloblastic anemia, Neurogenic bladder, Hyd...	OMIM:222300
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Glomerulopathy, Hypothyroidism, Hepatic steatosis, Multicystic kidney dysplasia, Aplasia/Hypoplas...	ORPHA:93111
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia	OMIM:251700
Tyrosinemia Type 1	Hepatocellular carcinoma, Splenomegaly, Generalized aminoaciduria, Hepatomegaly	ORPHA:882
Immunodeficiency With Hyper-Igm, Type 4	Bronchiectasis, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Recurrent upper respira...	OMIM:608184
Rhabdoid Tumor	Anemia, Neoplasm of the liver, Hematuria, Renal neoplasm, Lymphadenopathy, Hypercalcemia, Thrombo...	ORPHA:69077
Hodgkin Lymphoma	Lymphadenopathy, Splenomegaly, Hepatomegaly	ORPHA:98293
Edinburgh Malformation Syndrome	Failure to thrive, Hydrocephalus	ORPHA:1895
Lymphoproliferative Syndrome, X-Linked, 1	Neutropenia, Fulminant hepatitis, Recurrent respiratory infections, Lymphocytosis, Recurrent phar...	OMIM:308240
Acute Interstitial Pneumonia	Reduced hematocrit, Nodular pattern on pulmonary HRCT, Bronchiectasis, Pericardial effusion, Subp...	ORPHA:79126
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Hypogonadotropic hypogonadism, Microphthalmia, Ventriculomegaly	ORPHA:48431
Scleroderma	Hypereosinophilia, Gastroesophageal reflux, Gastrointestinal telangiectasia, Interstitial cardiac...	ORPHA:801
Neurodevelopmental Disorder With Seizures And Brain Abnormalities	Partial agenesis of the corpus callosum, Lateral ventricle dilatation	OMIM:619517
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased B cell count, Bronchiectasis, Increased proportion of memory T cells, Hepatosplenomegal...	OMIM:618982
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Hydrocephalus	ORPHA:99947
Adams-Oliver Syndrome 4	Microphthalmia, Atrial septal defect, Ventricular septal defect	OMIM:615297
Roifman Syndrome	Noncompaction cardiomyopathy, Hepatosplenomegaly, Recurrent pneumonia, Lymphadenopathy, Eosinophi...	ORPHA:353298
Microphthalmia, Syndromic 8	Cleft palate, Microphthalmia, Cryptorchidism	OMIM:601349
Functioning Gonadotropic Adenoma	Impotence, Anterior hypopituitarism, Decreased female libido, Oligospermia, Increased circulating...	ORPHA:91348
Vacterl With Hydrocephalus	Abnormal fallopian tube morphology, Aqueductal stenosis, Anophthalmia, Esophageal atresia, Renal ...	ORPHA:3412
Renal Hypoplasia, Bilateral	Vesicoureteral reflux, Anemia, Hyponatremia, Beta 2-microglobulinuria, Glycosuria, Hyperkalemia, ...	ORPHA:97362
Microphthalmia, Isolated, With Coloboma 7	Microphthalmia	OMIM:614497
Kallmann Syndrome With Spastic Paraplegia	Decreased circulating follicle stimulating hormone concentration, High palate, Hypothalamic gonad...	OMIM:308750
Adams-Oliver Syndrome 2	Hydrocephalus, Lateral ventricle dilatation	OMIM:614219
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Failure to thrive, Hydrocephalus, Ventriculomegaly, Colpocephaly	OMIM:619833
Msh3-Related Attenuated Familial Adenomatous Polyposis	Stomach cancer, Colorectal polyposis, Multiple gastric polyps, Neoplasm of the rectum, Renal cyst...	ORPHA:480536
Birt-Hogg-Dube Syndrome	Large intestinal polyposis, Renal cell carcinoma, Renal cyst, Renal neoplasm, Colon cancer, Multi...	OMIM:135150
Microphthalmia, Isolated, With Coloboma 6	Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia	OMIM:613703
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Hyperphosphatemia, Decreased response to growth hormone stimulation test, Ventriculomegaly, Bifid...	OMIM:241410
Premature Ovarian Failure 12	Microphthalmia, Primary amenorrhea	OMIM:616947
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome	Multicystic kidney dysplasia, Multinodular goiter	ORPHA:2091
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Gastroesophageal reflux, Recurrent infections due to aspiration, Abnormal renal physiology, Glome...	OMIM:223900
Autoimmune Lymphoproliferative Syndrome, Type Iia	Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ...	OMIM:603909
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Lymphadenitis, Vesicoureteral reflux, Thin skin, Hepatic fibrosis, Anemia, Dilated cardiomyopathy...	OMIM:615895
Meckel Syndrome, Type 7	Pancreatic cysts, Biliary cirrhosis, Multicystic kidney dysplasia, Stage 5 chronic kidney disease...	OMIM:267010
Cholesteryl Ester Storage Disease	Cirrhosis, Jaundice, Hepatomegaly, Hypercholesterolemia, Esophageal varix, Adrenal calcification,...	ORPHA:75234
Thanatophoric Dysplasia Type 2	Holoprosencephaly, Hydrocephalus, Encephalocele, Ventriculomegaly	ORPHA:93274
Fanconi Anemia, Complementation Group L	Anemia, Webbed neck, Esophageal atresia, Hydrocephalus, Unilateral renal agenesis, Anal atresia, ...	OMIM:614083
Glutaric Acidemia I	Failure to thrive, Hydrocephalus, Lateral ventricle dilatation	OMIM:231670
Fanconi Anemia	Ventriculomegaly, Abnormal testis morphology, Abnormal cardiac septum morphology, Aplasia/Hypopla...	ORPHA:84
Dihydropyrimidine Dehydrogenase Deficiency	Microphthalmia, Uraciluria	OMIM:274270
Nephronophthisis 18	Tubulointerstitial nephritis, Renal tubular atrophy, Stage 5 chronic kidney disease, Hydrocephalu...	OMIM:615862
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Decreased CD4:CD8 ratio, Recurrent urinary tract infections, Autoimmune hemolytic anemia, Lymphad...	OMIM:618495
Lymphatic Filariasis	Vaginal hydrocele, Lymphadenitis, Abnormality of the scrotum, Lymphangiectasis, Hypereosinophilia...	ORPHA:2035
Anemia, Congenital Dyserythropoietic, Type Iv	Hypothyroidism, Unconjugated hyperbilirubinemia, Reticulocytosis, Hepatosplenomegaly, Hypertrophi...	OMIM:613673
Spermatogenic Failure, X-Linked, 2	Spermatogenesis maturation arrest, Testicular atrophy, Male infertility, Azoospermia	OMIM:309120
Nephroblastoma	Nephroblastoma, Neoplasm of the liver, Hematuria, Lymphadenopathy, Aniridia, Neoplasm of the lung	ORPHA:654
Autosomal Dominant Polycystic Kidney Disease	Pancreatic cysts, Recurrent urinary tract infections, Stage 5 chronic kidney disease, Enlarged ki...	ORPHA:730
Meckel Syndrome, Type 5	Anencephaly, Renal cyst, Bile duct proliferation, Microphthalmia, Cleft palate, Occipital encepha...	OMIM:611561
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	High palate, Ketonuria, Hypertrophic cardiomyopathy, Microphthalmia, Hepatomegaly, Renal hypoplas...	OMIM:619053
Renal Cysts And Diabetes Syndrome	Biliary tract abnormality, Multiple glomerular cysts, Nephrolithiasis, Hypoplasia of the uterus, ...	OMIM:137920
Infundibulopelvic Dysgenesis	Multicystic kidney dysplasia, Microscopic hematuria	OMIM:600989
Microphthalmia, Isolated, With Coloboma 5	Microphthalmia, Bilateral microphthalmos, Holoprosencephaly, Anophthalmia	OMIM:611638
Peroxisome Biogenesis Disorder 12A (Zellweger)	Double outlet right ventricle, Abnormality of the male genitalia, Hyperbilirubinemia, Hydrocephal...	OMIM:614886
Chromosome 17P13.1 Deletion Syndrome	Hydrocephalus	OMIM:613776
2Q24 Microdeletion Syndrome	Cleft palate, Microphthalmia	ORPHA:1617
Nephronophthisis 19	Hepatic fibrosis, Renal interstitial fibrosis, Stage 5 chronic kidney disease, Malformation of th...	OMIM:616217
Pparg-Related Familial Partial Lipodystrophy	Thin skin, Cirrhosis, Hyperuricemia, Secondary amenorrhea, Oligomenorrhea, Pancreatitis, Maternal...	ORPHA:79083
Craniosynostosis 6	Spina bifida occulta, Agenesis of corpus callosum, Dandy-Walker malformation, Lateral ventricle d...	OMIM:616602
Roberts-Sc Phocomelia Syndrome	High palate, Ventricular septal defect, Enlarged labia minora, Bicornuate uterus, Polycystic kidn...	OMIM:268300
Lowry-Maclean Syndrome	Midgut malrotation, Atrioventricular canal defect, Abnormality of the abdominal organs, Bilateral...	ORPHA:2409
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Failure to thrive in infancy, Lateral ventricle dilatation	ORPHA:284417
Seckel Syndrome 2	Ectopic kidney, Hypospadias, Microglossia, Microphthalmia	OMIM:606744
Tetraamelia Syndrome 1	Urethral atresia, Asplenia, Peripheral pulmonary vessel aplasia, Adrenal gland agenesis, Absent e...	OMIM:273395
Nanophthalmos	Microphthalmia	ORPHA:35612
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Recurrent respiratory infections, Leukemia, Lymphocytosis, Pancytopenia, Autoim...	OMIM:614470
Familial Mediterranean Fever	Nephrotic syndrome, Malabsorption, Ascites, Peritonitis, Pancreatitis, Pleuritis, Pericarditis, N...	ORPHA:342
Trichothiodystrophy 3, Photosensitive	Abdominal adhesions, Pyloric stenosis, Bilateral cryptorchidism, Lymphopenia, Meckel diverticulum...	OMIM:616395
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Leukopenia, Anemia, Enlarged kidney, Hepatomegaly, Extramedullary hematopoiesis, Thrombocytopenia...	OMIM:615285
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Cleft palate, Hematuria, Microphthalmia	OMIM:120433
Fanconi Anemia, Complementation Group A	Anemia, Reticulocytopenia, Renal agenesis, Pancytopenia, Ectopic kidney, Duplicated collecting sy...	OMIM:227650
Castleman Disease	Anemia, Restrictive cardiomyopathy, Renal insufficiency, Abnormality of the gastrointestinal trac...	ORPHA:160
Zellweger Syndrome	Multicystic kidney dysplasia, High palate, Ventricular septal defect, Malabsorption, Jaundice, Py...	ORPHA:912
Caspase 8 Deficiency	Decreased CD4:CD8 ratio, Recurrent sinopulmonary infections, Lymphadenopathy, Pneumonia, Splenome...	OMIM:607271
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of	Megaloblastic anemia, Absence of intrinsic factor	OMIM:243320
Immunodeficiency 103, Susceptibility To Fungal Infections	Hypereosinophilia, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cell...	OMIM:212050
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia	ORPHA:1574
Exstrophy-Epispadias Complex	Absent penis, Renal dysplasia, Bladder fistula, Male sexual dysfunction, Bifid uterus, Abnormalit...	ORPHA:322
Immunodeficiency, Common Variable, 8, With Autoimmunity	Hypothyroidism, Bronchiectasis, Generalized lymphadenopathy, Recurrent sinusitis, Colitis, Thromb...	OMIM:614700
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Hypothyroidism, High palate, Hepatosplenomegaly, Recurrent pneumonia, Lymphadenopathy, Elevated c...	OMIM:619750
Lymphoproliferative Syndrome 1	Leukopenia, Anemia, Pericardial effusion, Pancytopenia, Autoimmune thrombocytopenia, Pleural effu...	OMIM:613011
Walker-Warburg Syndrome	Abnormal circulating creatine kinase concentration, Ventriculomegaly, Anophthalmia, Hydrocephalus...	ORPHA:899
Femoral-Facial Syndrome	Gastroesophageal reflux, Truncus arteriosus, Ventricular septal defect, Pulmonic stenosis, Polycy...	OMIM:134780
Dubin-Johnson Syndrome	Abnormal gastric mucosa morphology, Abnormality of the liver, Jaundice, Biliary tract abnormality...	ORPHA:234
Felty Syndrome	Anemia, Recurrent respiratory infections, Recurrent urinary tract infections, Pleuritis, Recurren...	ORPHA:47612
Muscle-Eye-Brain Disease	Meningocele, Holoprosencephaly, Hydrocephalus	ORPHA:588
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Hydrocephalus	ORPHA:2181
Alagille Syndrome 2	Renal insufficiency, Renal tubular acidosis, Hematuria, Atrial septal defect, Renal cyst, Cholest...	OMIM:610205
Intellectual Developmental Disorder, X-Linked 30	Hydrocephalus	OMIM:300558
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Hypothyroidism, Anemia, Ventriculomegaly, Villous atrophy, Hepatitis, Coombs-positive hemolytic a...	OMIM:304790
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Small for gestational age, Hydrocephalus	OMIM:613330
Agammaglobulinemia, X-Linked	Anemia, T lymphocytopenia, Prostatitis, Recurrent urinary tract infections, B lymphocytopenia, Br...	OMIM:300755
Anaplastic Thyroid Carcinoma	Nodular goiter, Anaplastic thyroid carcinoma, Tracheoesophageal fistula, Lymphadenopathy, Dysphag...	ORPHA:142
Mosaic Variegated Aneuploidy Syndrome	Nephroblastoma, Stomach cancer, Ambiguous genitalia, Multicystic kidney dysplasia, Hypothyroidism...	ORPHA:1052
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Acholic stools, Biliary tract abnormality, Neonatal cholestatic liver diseas...	ORPHA:1414
B4Galt1-Cdg	Hypothyroidism, Decreased LDL cholesterol concentration, Hydrocephalus, Elevated circulating crea...	ORPHA:79332
Familial Hemophagocytic Lymphohistiocytosis	Anemia, Hypertriglyceridemia, CSF pleocytosis, Jaundice, Abnormal renal physiology, Lymphadenopat...	ORPHA:540
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult	Gastric hypertrophy, Gastric ulcer	OMIM:161700
Hydrocephalus, Normal-Pressure, 1	Normal pressure hydrocephalus	OMIM:236690
Mast Cell Sarcoma	Mastocytosis, Lymphadenopathy, Mediastinal lymphadenopathy, Hepatomegaly, Splenomegaly	ORPHA:66661
Myopathy, Centronuclear, X-Linked	High palate, Pyloric stenosis, Hydrocephalus, Cryptorchidism, Dandy-Walker malformation	OMIM:310400
Stromme Syndrome	Jejunal atresia, Hydrocephalus, Optic nerve hypoplasia, Intestinal malrotation, Accessory spleen,...	OMIM:243605
Jacobsen Syndrome	Ventricular septal defect, Macular hypoplasia, Pyloric stenosis, Labial hypoplasia, Hydrocephalus...	OMIM:147791
Hemophagocytic Lymphohistiocytosis, Familial, 2	Increased total bilirubin, Leukopenia, Anemia, CSF pleocytosis, Jaundice, Pancytopenia, Hepatospl...	OMIM:603553
Congenital Disorder Of Glycosylation, Type Ia	Dilated fourth ventricle, Proximal tubulopathy, Hepatic fibrosis, Hypothyroidism, Villous atrophy...	OMIM:212065
Basel-Vanagaite-Smirin-Yosef Syndrome	Gastroesophageal reflux, High palate, Ventriculomegaly, Ventricular septal defect, Atrial septal ...	OMIM:616449
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Hypothyroidism, Decreased CD4:CD8 ratio, T lymphocytopenia, Hemolytic anemia, B lymphocytopenia, ...	OMIM:606367
Congenital Muscular Dystrophy With Cerebellar Involvement	Dilated fourth ventricle, Ventriculomegaly, Hydrocephalus, Occipital encephalocele, Agenesis of c...	ORPHA:370959
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Dilated third ventricle, Ventriculomegaly, Lateral ventricle dilatation, Hydrocephalus, Dandy-Wal...	OMIM:613154
Dopamine Beta-Hydroxylase Deficiency	Anemia, Hyperinsulinemia, Retrograde ejaculation, Nocturia, Elevated urinary dopamine, Increased ...	ORPHA:230
Fg Syndrome Type 1	Gastroesophageal reflux, High palate, Ventriculomegaly, Abnormal large intestine morphology, Pylo...	ORPHA:93932
Optic Pathway Glioma	Hydrocephalus	ORPHA:2086
Papilloma Of Choroid Plexus	Hydrocephalus, Choroid plexus papilloma	OMIM:260500
Pseudomyxoma Peritonei	Abnormality of the peritoneum, Inflammation of the large intestine, Lymphadenopathy, Intestinal o...	ORPHA:26790
Hypocomplementemic Urticarial Vasculitis	Glomerulopathy, Pericardial effusion, Hematuria, Abnormal heart valve morphology, Emphysema, Pleu...	ORPHA:36412
Radial Aplasia, X-Linked	Hydrocephalus	OMIM:312190
Intrinsic Factor Deficiency	Reduced haptoglobin level, Megaloblastic anemia, Absence of intrinsic factor, Increased RBC distr...	OMIM:261000
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Anemia, Congenital hemolytic anemia, Increased serum iron, Unconjugated hyperbilirubinemia, Eleva...	ORPHA:766
Pearson Syndrome	Hypothyroidism, Adrenal insufficiency, Reticulocytosis, Lacticaciduria, Hepatic steatosis, Hypopa...	ORPHA:699
Acrocephalopolydactylous Dysplasia	Hepatic fibrosis, Enlarged kidney, Polysplenia, Cystic renal dysplasia, Hypoplastic colon, Pulmon...	OMIM:200995
Fanconi Anemia, Complementation Group E	Anemia, Reticulocytopenia, Renal agenesis, Pancytopenia, Ectopic kidney, Duplicated collecting sy...	OMIM:600901
Baraitser-Winter Syndrome 1	Ventriculomegaly, Bicuspid aortic valve, Microphthalmia, Cryptorchidism, Aortic valve stenosis, M...	OMIM:243310
Adams-Oliver Syndrome 6	Hepatic fibrosis, Ventricular septal defect, Truncus arteriosus, Esophageal varix, Renal hypoplas...	OMIM:616589
Oculoskeletodental Syndrome	Hypothyroidism, Renal agenesis, Hypocalcemia, Macroglossia, Mucopolysacchariduria, Hypercalcemia,...	OMIM:618440
Holoprosencephaly	Spinal dysraphism, Anterior hypopituitarism, Holoprosencephaly, Hyponatremia, Abnormality of the ...	ORPHA:2162
Kapur-Toriello Syndrome	Ventricular septal defect, Hypoplastic labia majora, Atrial septal defect, Intestinal malrotation...	OMIM:244300
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	External genital hypoplasia, Microphthalmia, Hypogonadism, Cryptorchidism	ORPHA:363741
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Intestinal malrotation, Testicular atrophy, Pulmonary hypoplasia	OMIM:601163
Cerebrooculofacioskeletal Syndrome 1	Microphthalmia, Recurrent pneumonia, Ventriculomegaly, Cryptorchidism	OMIM:214150
Combined Oxidative Phosphorylation Deficiency 11	Renal tubular acidosis, Renal dysplasia, Renal cyst, Hepatic steatosis, Hepatomegaly, Renal hypop...	OMIM:614922
Desmosterolosis	Ambiguous genitalia, Ventriculomegaly, Renal hypoplasia/aplasia, Renal agenesis, Hydrocephalus, B...	ORPHA:35107
Metatropic Dysplasia	Hydrocephalus	ORPHA:2635
Thymic Neuroendocrine Tumor	Increased circulating prolactin concentration, Neoplasm of the thymus, Neoplasm of the endocrine ...	ORPHA:97289
Focal Facial Dermal Dysplasia Type Iv	Hydrocephalus	ORPHA:398189
Moebius Syndrome	High palate, Decreased testicular size, Bifid uvula, Microphthalmia, Dysphagia, Hypogonadotropic ...	OMIM:157900
Congenital Sialidosis Type 2	Respiratory tract infection, Abnormality of the kidney, Hydrocephalus, Hepatosplenomegaly, Hypopl...	ORPHA:93400
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Failure to thrive, Hydrocephalus, Ventriculomegaly	ORPHA:60040
Mckusick-Kaufman Syndrome	Urogenital sinus anomaly, Multicystic kidney dysplasia, High palate, Ventricular septal defect, E...	ORPHA:2473
Red Cell Phospholipid Defect With Hemolysis	Intermittent jaundice, Hyperbilirubinemia, Splenomegaly, Reticulocytosis	OMIM:179700
Microcephalic Primordial Dwarfism, Montreal Type	Congenital pyloric atresia, Cryptorchidism	ORPHA:2617
Severe X-Linked Intellectual Disability, Gustavson Type	Small for gestational age, Dilated fourth ventricle, Dandy-Walker malformation, Lateral ventricle...	ORPHA:3078
Hemangioblastoma	Hydrocephalus	ORPHA:252054
Pontocerebellar Hypoplasia, Type 13	Failure to thrive, Dandy-Walker malformation, Lateral ventricle dilatation	OMIM:618606
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Abnormal natural killer cell count, Anemia, Pulmonary hemorrhage, T lymphocytopenia, Urinary rete...	ORPHA:79124
Roifman Syndrome	Ventricular septal defect, Noncompaction cardiomyopathy, Recurrent pneumonia, Lymphadenopathy, Eo...	OMIM:616651
Chromosome 1Q41-Q42 Deletion Syndrome	High palate, Ventriculomegaly, Ventricular septal defect, Supernumerary nipple, Pulmonary hypopla...	OMIM:612530
1Q44 Microdeletion Syndrome	Vesicoureteral reflux, High palate, Ventriculomegaly, Abnormal cardiac septum morphology, Hydroce...	ORPHA:238769
Beta-Thalassemia Intermedia	Hypothyroidism, Abnormality of iron homeostasis, Adrenal insufficiency, Hepatocellular carcinoma,...	ORPHA:231222
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts	Communicating hydrocephalus	OMIM:600559
Vitamin K Antagonist Embryofetopathy	Hydrocephalus, Myelomeningocele	ORPHA:1914
Lysosomal Acid Lipase Deficiency	Adrenal insufficiency, Hepatosplenomegaly, Hepatic steatosis, Bone-marrow foam cells, Hepatomegal...	OMIM:278000
Fanconi Anemia, Complementation Group C	Anemia, Ventricular septal defect, Reticulocytopenia, Renal agenesis, Pancytopenia, Ectopic kidne...	OMIM:227645
Lymphoproliferative Syndrome 3	Lymphadenopathy, Reduced natural killer cell count, Hepatosplenomegaly	OMIM:618261
Immunodeficiency 105	Increased B cell count, Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia, ...	OMIM:619924
Splenoportal Vascular Anomalies	Hepatic fibrosis, Cirrhosis, Anomalous splenoportal venous system, Diabetes mellitus, Hyperammone...	OMIM:271500
Pyloric Atresia	Congenital pyloric atresia	OMIM:265950
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Ureteral agenesis, Renal dysplasia, Pulmonary hypoplasia, Renal cyst, Hydranencephaly, Renal hypo...	OMIM:236500
Axenfeld-Rieger Syndrome, Type 2	Hydrocephalus, Hypospadias, Abnormal heart morphology, Cryptorchidism, Anal stenosis	OMIM:601499
Tularemia	Anemia, Abnormal nasopharyngeal adenoid morphology, Pleural effusion, Lymphadenopathy, Mediastina...	ORPHA:3392
Thanatophoric Dysplasia	Hydrocephalus, Ventriculomegaly	ORPHA:2655
L1 Syndrome	Hydrocephalus, Aqueductal stenosis	ORPHA:275543
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Lateral ventricle dilatation	OMIM:615716
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Morphological abnormality of the gastrointestinal tract, Ventricular septal defect, Bifid uvula, ...	ORPHA:404440
Familial Partial Lipodystrophy, Dunnigan Type	Glomerulopathy, Thin skin, Secondary amenorrhea, Pancreatitis, Hepatic steatosis, Diabetes mellit...	ORPHA:2348
Glutamine Deficiency, Congenital	Subependymal cysts, Decreased CSF glutamine concentration, Lateral ventricle dilatation	OMIM:610015
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Hydrocephalus	OMIM:615181
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant	Macrothrombocytopenia, Impaired platelet aggregation	OMIM:613112
Lymphoproliferative Syndrome 2	Pancytopenia, Hepatosplenomegaly, Recurrent pneumonia, Lymphadenopathy, Hemophagocytosis, Hepatom...	OMIM:615122
Proteus-Like Syndrome	Hydrocephalus, Communicating hydrocephalus, Polycystic ovaries, Abnormality of the parathyroid gl...	ORPHA:2969
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Ambiguous genitalia, Microphthalmia, Ventricular septal defect	ORPHA:93267
Oeis Complex	Vesicovaginal fistula, Ambiguous genitalia, female, Bifid uterus, Absent scrotum, Hydrocephalus, ...	OMIM:258040
Leukocyte Adhesion Deficiency, Type Iii	Abnormal lymph node morphology, Anemia, Hepatosplenomegaly, Leukocytosis, Extramedullary hematopo...	OMIM:612840
Microcephaly 20, Primary, Autosomal Recessive	Ureteral agenesis, Bilateral renal agenesis, Arrhinencephaly, Optic nerve hypoplasia, Vaginal atr...	OMIM:617914
Igg4-Related Kidney Disease	Nephrotic range proteinuria, Prostatitis, Sclerosing cholangitis, Pericarditis, Renal interstitia...	ORPHA:449395
Rhombencephalosynapsis	Ventriculomegaly, Esophageal atresia, Septo-optic dysplasia, Aganglionic megacolon, Hydrocephalus...	ORPHA:59315
Linear Skin Defects With Multiple Congenital Anomalies 1	Histiocytoid cardiomyopathy, Colpocephaly, Ventricular septal defect, Hydrocephalus, Anal atresia...	OMIM:309801
Meacham Syndrome	Ambiguous genitalia, Hydrometrocolpos, Abnormal vagina morphology, Conotruncal defect, Ventricula...	ORPHA:3097
Cataract 11, Multiple Types	Microphthalmia	OMIM:610623
Penile Agenesis	Ambiguous genitalia, Absent penis, Urethral fistula, Pulmonary hypoplasia, Abnormality of the bla...	ORPHA:49
47,Xyy Syndrome	Macroorchidism, Increased serum testosterone level, Hydrocephalus, Azoospermia, Oligospermia, Inc...	ORPHA:8
Classic Mycosis Fungoides	Lymphadenopathy, Splenomegaly, Hepatomegaly, Abnormal lymphocyte morphology	ORPHA:2584
Aggressive Systemic Mastocytosis	Anemia, Malabsorption, Hypersplenism, Pancytopenia, Hepatosplenomegaly, Lymphadenopathy, Thromboc...	ORPHA:98850
Warburg Micro Syndrome 3	Narrow palate, Ventriculomegaly, Decreased testicular size, Hypoplastic labia minora, Microphthal...	OMIM:614222
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Obesity, Hydrocephalus	ORPHA:2180
Generalized Eruptive Histiocytosis	Hypereosinophilia, Lymphadenopathy, Histiocytosis, Leukemia	ORPHA:157991
Mucopolysaccharidosis, Type Ii	Dermatan sulfate excretion in urine, Hydrocephalus, Abnormal heart valve morphology, Macroglossia...	OMIM:309900
Degcags Syndrome	Abnormal renal cortex morphology, Ambiguous genitalia, Ventriculomegaly, Hepatosplenomegaly, Hepa...	OMIM:619488
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Microphthalmia	OMIM:616171
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	T lymphocytopenia, B lymphocytopenia, Lymphopenia, Recurrent pneumonia, Absent tonsils, Recurrent...	ORPHA:277
Mosaic Trisomy 1	Penile hypospadias, Renal cortical cysts, Ventricular septal defect, Lateral ventricle dilatation...	ORPHA:1692
Omenn Syndrome	Hypothyroidism, Anemia, Nephrotic syndrome, Thyroiditis, Lymphadenopathy, Hepatomegaly, Eosinophi...	ORPHA:39041
Cornelia De Lange Syndrome 1	Hypoplastic labia majora, Reduced renal corticomedullary differentiation, Cleft palate, Thrombocy...	OMIM:122470
Hanac Syndrome	Renal insufficiency, Hematuria, Multiple renal cysts	ORPHA:73229
Hb Bart'S Hydrops Fetalis	Anemia, Hydrocephalus, Pericarditis, Hepatomegaly, Abnormal hemoglobin, Splenomegaly	ORPHA:163596
Beta-Thalassemia	Anemia, Abnormality of iron homeostasis, Hepatitis, Hypertrophic cardiomyopathy, Hepatomegaly, Ch...	ORPHA:848
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Anemia, Cirrhosis, Type II diabetes mellitus, Jaundice, Erythroid hyperplasia, Hepatosplenomegaly...	OMIM:616860
Intellectual Developmental Disorder, Autosomal Dominant 35	Hydrocephalus, Ventriculomegaly	OMIM:616355
Coccidioidomycosis	Exudative pleural effusion, Abnormality of the bladder, Pericarditis, Eosinophilia, Pneumonia, Ab...	ORPHA:228123
D-2-Hydroxyglutaric Aciduria 1	Subependymal cysts, Lateral ventricle dilatation	OMIM:600721
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Hypogonadotropic hypogonadism, Cleft palate, High palate, Microphthalmia	ORPHA:1135
Acquired Hypertrichosis Lanuginosa	Macroglossia, Lymphadenopathy, Glossitis, Ovarian neoplasm	ORPHA:2221
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Elevated circulating creatine kinase concentration, Hepatic steatosis, Hepatomegaly, Hypercholest...	ORPHA:264580
Neonatal Lupus Erythematosus	Anemia, Abnormality of the liver, Hemolytic anemia, Hydrocephalus, Dilated cardiomyopathy, Pancyt...	ORPHA:398124
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	B lymphocytopenia, Bronchiectasis, Recurrent pneumonia, Lymphadenopathy, Abnormal CD4:CD8 ratio, ...	OMIM:150550
Schnitzler Syndrome	Anemia, Lymphadenopathy, Leukocytosis, Hepatomegaly, Splenomegaly	ORPHA:37748
Anemia, Hypochromic Microcytic, With Iron Overload 2	Anemia, Hypogonadism, Elevated transferrin saturation, Azoospermia, Poikilocytosis, Decreased mea...	OMIM:615234
Campomelia, Cumming Type	Pancreatic cysts, Aplasia/Hypoplasia affecting the eye, Multicystic kidney dysplasia, Abnormality...	ORPHA:1318
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Lobulated tongue, Ambiguous genitalia, Encephalocele, Bifid tongue, Anal atresia, Pulmonary hypop...	OMIM:616300
Alkuraya-Kucinskas Syndrome	Webbed neck, Ventriculomegaly, High palate, Pericardial effusion, Hydrocephalus, Pleural effusion...	OMIM:617822
Adams-Oliver Syndrome	Leukopenia, Cirrhosis, Encephalocele, Pulmonary artery atresia, Hydrocephalus, Thrombocytopenia, ...	ORPHA:974
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Lymphadenopathy	OMIM:617772
3-Methylglutaconic Aciduria Type 7	Hypothyroidism, 3-Methylglutaconic aciduria, Pneumothorax, Renal cyst, Hepatic steatosis, Infecti...	ORPHA:445038
Weiss-Kruszka Syndrome	Ventriculomegaly, Agenesis of corpus callosum, Colpocephaly	OMIM:618619
Charge Syndrome	Hypothyroidism, Gonadotropin deficiency, Secundum atrial septal defect, Parathyroid hypoplasia, H...	OMIM:214800
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Extra-axial cerebrospinal fluid accumulation, Spina bifida occulta, Ventriculomegaly, Lateral ven...	OMIM:618291
Joubert Syndrome 3	Enlarged fossa interpeduncularis, Lateral ventricle dilatation	OMIM:608629
Adult-Onset Still Disease	Abnormal circulating lipid concentration, Hepatitis, Pleuritis, Neutrophilia, Recurrent pharyngit...	ORPHA:829
Medullary Thyroid Carcinoma	Neoplasm of the lung, Nodular goiter, Pheochromocytoma, Elevated calcitonin, Lymphadenopathy, Dys...	ORPHA:1332
Leishmaniasis	Leukopenia, Anemia, Abnormal macrophage morphology, Pancytopenia, Lymphadenopathy, Hepatomegaly, ...	ORPHA:507
Arnold-Chiari Malformation Type Ii	Meningocele, Myelomeningocele, Ventriculomegaly, Aqueductal stenosis, Hydrocephalus, Partial agen...	ORPHA:1136
Trisomy 18	Webbed neck, Narrow palate, Abnormal morphology of female internal genitalia, Esophageal atresia,...	ORPHA:3380
Paganini-Miozzo Syndrome	Lateral ventricle dilatation	OMIM:301025
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Small for gestational age, Gliosis, Lateral ventricle dilatation	OMIM:619847
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Atrial septal defect, Multiple bladder diverticula, Microphthalmia, Cryptorchidism, Cleft palate,...	ORPHA:2728
Micro Syndrome	High palate, Hypoplastic labia minora, Hypoplasia of penis, Clitoral hypoplasia, Delayed puberty,...	ORPHA:2510
Triokinase And Fmn Cyclase Deficiency Syndrome	Dilated cardiomyopathy, Hepatic steatosis, Microphthalmia, Hepatomegaly, Pancreatitis, Microcytic...	OMIM:618805
Trisomy X	Renal hypoplasia/aplasia, Multicystic kidney dysplasia, Secondary amenorrhea	ORPHA:3375
Marden-Walker Syndrome	Renal dysplasia, Bifid uvula, Abnormality of the urinary system, Cleft palate, Multicystic kidney...	ORPHA:2461
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of CD4+CD25+ regulatory T cells, Recurrent sinopulmonary infections, Lymphop...	OMIM:619846
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Patent foramen ovale, Webbed neck, Lateral ventricle dilatation, Lens coloboma, Microphthalmia, R...	OMIM:618914
Papillorenal Syndrome	Vesicoureteral reflux, Multicystic kidney dysplasia, Stage 5 chronic kidney disease, Renal malrot...	OMIM:120330
Ciliary Dyskinesia, Primary, 1	Immotile cilia, Communicating hydrocephalus, Nasal polyposis, Absent outer dynein arms, Ciliary d...	OMIM:244400
Systemic-Onset Juvenile Idiopathic Arthritis	Pericarditis, Pleural effusion, Lymphadenopathy, Elevated circulating C-reactive protein concentr...	ORPHA:85414
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Vesicoureteral reflux, Leukemia, Secundum atrial septal defect, Hydrocephalus, Unilateral renal a...	OMIM:619951
Alveolar Echinococcosis	Pancreatic cysts, Abnormal pericardium morphology, Biliary cirrhosis, Anemia, Abnormality of adre...	ORPHA:284
Cholestasis, Progressive Familial Intrahepatic, 1	Cirrhosis, Fat malabsorption, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis wi...	OMIM:211600
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Hypoplasia of the thymus, Perianal abscess, Secundum atrial septal defect, Hepatosplenomegaly, He...	OMIM:612541
Ulbright-Hodes Syndrome	High palate, Pneumothorax, Enlarged labia minora, Polycystic kidney dysplasia, Maternal diabetes,...	ORPHA:3404
Joubert Syndrome 14	Meningocele, Encephalocele, Ventricular septal defect, Hydrocephalus, Renal cyst, Microphthalmia,...	OMIM:614424
Vacterl Association With Hydrocephalus	Aqueductal stenosis, Hydrocephalus, Anal atresia, Abnormal heart morphology, Renal hypoplasia	OMIM:276950
Congenital Tracheal Stenosis	Anomalous origin of left pulmonary artery from ascending aorta, Morphological abnormality of the ...	ORPHA:141127
Nanophthalmos 4	Microphthalmia	OMIM:615972
Spinocerebellar Ataxia 32	Testicular atrophy, Infertility, Azoospermia	OMIM:613909
Senior-Boichis Syndrome	Abnormal renal insterstitial morphology, Malformation of the hepatic ductal plate, Hepatosplenome...	ORPHA:84081
Hyperparathyroidism-Jaw Tumor Syndrome	Pancreatic adenocarcinoma, Nephroblastoma, Uterine leiomyoma, Peptic ulcer, Renal insufficiency, ...	ORPHA:99880
Kapur-Toriello Syndrome	Ventricular septal defect, Hypoplastic labia majora, Hypoplasia of penis, Intestinal malrotation,...	ORPHA:2328
Familial Cold Autoinflammatory Syndrome 2	Elevated circulating C-reactive protein concentration, Lymphadenopathy, Splenomegaly, Leukocytosis	OMIM:611762
Cystic Hamartoma Of Lung And Kidney	Multicystic kidney dysplasia, Recurrent respiratory infections, Pulmonary fibrosis	ORPHA:2111
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Hydrocephalus	ORPHA:93262
Fanconi Anemia, Complementation Group G	Anemia, Microphthalmia, Thrombocytopenia, Neutropenia, Leukemia	OMIM:614082
Pediatric Systemic Lupus Erythematosus	Leukopenia, Nephrotic syndrome, Abnormality of the gastrointestinal tract, Pericardial effusion, ...	ORPHA:93552
Sarcoidosis	Abnormal lymph node morphology, Hypothyroidism, Pneumothorax, Bronchiectasis, Pleural effusion, I...	ORPHA:797
Spinocerebellar Ataxia Type 32	Testicular atrophy, Male infertility, Azoospermia	ORPHA:276183
Bile Acid Synthesis Defect, Congenital, 5	Hepatic fibrosis, Increased total iron binding capacity, Jaundice, Hyperbilirubinemia, Portal fib...	OMIM:616278
Cholestasis, Progressive Familial Intrahepatic, 3	Cirrhosis, Malabsorption, Jaundice, Portal inflammation, Portal fibrosis, Intrahepatic cholestasi...	OMIM:602347
Martsolf Syndrome 1	Enlarged sylvian cistern, High palate, Ventriculomegaly, Microphthalmia, Cryptorchidism, Hypogona...	OMIM:212720
Brucellosis	Pericarditis, Glomerulonephritis, Pleural effusion, Hepatomegaly, Intrarenal abscess, Thrombocyto...	ORPHA:1304
Aase-Smith Syndrome I	Hydrocephalus, Dandy-Walker malformation	OMIM:147800
Uremic Pruritus	Stage 5 chronic kidney disease, Hypermagnesemia, Increased blood urea nitrogen, Hypercalcemia, Re...	ORPHA:94059
X-Linked Intellectual Disability, Wilson Type	Lateral ventricle dilatation	ORPHA:85290
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Lymphadenitis, Leukopenia, Chronic bronchitis, T lymphocytopenia, Monocytopenia, B lymphocytopeni...	OMIM:618986
Cyclic Neutropenia	Respiratory tract infection, Enterocolitis, Perianal abscess, Peritonitis, Decreased eosinophil c...	ORPHA:2686
Bardet-Biedl Syndrome	Hepatic fibrosis, Multicystic kidney dysplasia, Hypogonadism, Nephrotic syndrome, Hypoplasia of p...	ORPHA:110
Juvenile Idiopathic Arthritis	Abnormal pleura morphology, Malabsorption, Pericardial effusion, Mediastinal lymphadenopathy, Hep...	ORPHA:92
Joubert Syndrome 16	Renal cyst, Encephalocele, Nephronophthisis, Dandy-Walker malformation	OMIM:614465
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Elevated urinary aminoisobutyric acid, High palate, Lateral ventricle dilatation, Elevated urinar...	OMIM:614105
Cutis Laxa, Autosomal Recessive, Type Iib	Failure to thrive, Hydrocephalus, Agenesis of corpus callosum	OMIM:612940
Deafness-Lymphedema-Leukemia Syndrome	Recurrent respiratory infections, Lymphadenopathy, Abnormal neutrophil count, Bone marrow hypocel...	ORPHA:3226
Bardet-Biedl Syndrome 17	Hypogonadism, Stage 5 chronic kidney disease, Renal cyst, Polyuria, Dextrocardia, Situs inversus ...	OMIM:615994
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Thin skin, Hypothyroidism, Ventriculomegaly, Hydrocephalus, Hypoplasia of penis, Supernumerary ni...	ORPHA:1812
Joubert Syndrome 2	Encephalocele, High palate, Hydrocephalus, Renal cyst, Microphthalmia, Hypoplastic male external ...	OMIM:608091
Amelocerebrohypohidrotic Syndrome	Hydrocephalus	ORPHA:1946
Joubert Syndrome With Hepatic Defect	Intrahepatic biliary atresia, Cirrhosis, Multicystic kidney dysplasia, Neoplasm of the liver, Hyd...	ORPHA:1454
Parathyroid Carcinoma	Pancreatic adenocarcinoma, Nephroblastoma, Uterine leiomyoma, Peptic ulcer, Renal insufficiency, ...	ORPHA:143
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Failure to thrive, Astrocytosis, Gliosis, Increased CSF protein concentration	OMIM:203700
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Reduced natural killer cell count, Decreased proportion of CD3-positive T cells, Jaundice, Decrea...	ORPHA:276
Familial Mediterranean Fever	Crohn's disease, Nephrotic syndrome, Stage 5 chronic kidney disease, Pleuritis, Peritonitis, Neut...	OMIM:249100
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Ventricular septal defect, Bifid uvula, Hydrocephalus, Hypertrophic cardiomyopathy, Protruding to...	OMIM:612938
Lissencephaly 8	Microphthalmia, Occipital encephalocele, Ventriculomegaly, Elevated circulating creatine kinase c...	OMIM:617255
Sarcoidosis, Susceptibility To, 2	Abnormal pulmonary interstitial morphology, Pneumothorax, Bronchiectasis, Emphysema, Pleural effu...	OMIM:612387
Halperin-Birk Syndrome	Ventriculomegaly, Semilobar holoprosencephaly, Failure to thrive, Agenesis of corpus callosum, Co...	OMIM:618651
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Dilated fourth ventricle, Microphthalmia	OMIM:615771
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Hydrocephalus, Agenesis of corpus callosum	OMIM:615249
Methylcobalamin Deficiency Type Cble	Failure to thrive, Hydrocephalus, Ventriculomegaly	ORPHA:2169
Niemann-Pick Disease, Type A	Sea-blue histiocytosis, Lymphadenopathy, Bone-marrow foam cells, Hepatomegaly, Ascites, Prolonged...	OMIM:257200
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Astrocytosis, Decreased body weight	ORPHA:258
Familial Adenomatous Polyposis 4	Duodenal polyposis, Gastric adenocarcinoma, Renal cyst, Ovarian cyst, Uterine leiomyoma, Adenomat...	OMIM:617100
Kaposi Sarcoma	Abnormality of the liver, Abnormality of the gastrointestinal tract, Generalized lymphadenopathy,...	ORPHA:33276
Aminopterin/Methotrexate Embryofetopathy	Meningocele, Spinal dysraphism, Encephalocele, Anencephaly, Hydrocephalus, Holoprosencephaly	ORPHA:1908
Nephrotic Syndrome, Type 1	Renal tubular atrophy, Gastroesophageal reflux, Hypothyroidism, Congenital nephrotic syndrome, Py...	OMIM:256300
Trisomy 8P	Abnormal atrioventricular connection, Malrotation of small bowel, Aplasia/Hypoplasia of the gallb...	ORPHA:264450
Bone Marrow Failure Syndrome 5	Anemia, Hypogonadism, Erythroid hypoplasia, Testicular atrophy, Oral leukoplakia, Pulmonary fibro...	OMIM:618165
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Hematuria, Microphthalmia, Bilateral cleft lip and palate	ORPHA:1473
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis	Polycystic kidney dysplasia, Renal angiomyolipoma	OMIM:600273
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia	Congenital pyloric atresia	OMIM:612138
Isolated Optic Nerve Hypoplasia/Aplasia	Vesicoureteral reflux, Ventriculomegaly, Aplasia/Hypoplasia of the iris, Optic disc hypoplasia, U...	ORPHA:137902
Bilateral Generalized Polymicrogyria	Lateral ventricle dilatation	ORPHA:208447
Rosaï-Dorfman Disease	Lymphadenopathy, Anemia	ORPHA:158014
Facial Clefting, Oblique, 1	Cleft palate, Microphthalmia	OMIM:600251
Familial Pancreatic Carcinoma	Pancreatic adenocarcinoma, Extrahepatic cholestasis, Peritoneal abscess, Neoplasm of the liver, J...	ORPHA:1333
Jacobsen Syndrome	Multicystic kidney dysplasia, Webbed neck, Ventriculomegaly, Abnormality of the anus, Ectopic anu...	ORPHA:2308
46,Xx Disorder Of Sex Development-Anorectal Anomalies Syndrome	Urogenital sinus anomaly, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Hydroureter, An...	ORPHA:2973
Thyroid Lymphoma	Hypothyroidism, Hyperthyroidism, Lymphadenopathy, Hashimoto thyroiditis, Dysphagia, Goiter	ORPHA:97285
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Encephalocele, Hypogonadism, Microphthalmia, Cryptorchidism, Small scrotum	ORPHA:228390
Arachnoiditis	Hydrocephalus	ORPHA:137817
Malan Overgrowth Syndrome	Ventriculomegaly, Lateral ventricle dilatation	ORPHA:420179
Congenital Anomalies Of Kidney And Urinary Tract 3	Vesicoureteral reflux, Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Hydronephr...	OMIM:618270
Mucopolysaccharidosis, Type Vii	Cardiomyopathy, Chronic bronchitis, Dermatan sulfate excretion in urine, Hydrocephalus, Abnormal ...	OMIM:253220
Warburg Micro Syndrome 4	Decreased testicular size, Microphthalmia, Cryptorchidism, Small scrotum, Micropenis	OMIM:615663
Histiocytosis-Lymphadenopathy Plus Syndrome	Pancreatic hypoplasia, Splenomegaly, Decreased response to growth hormone stimulation test, Retro...	OMIM:602782
Biliary, Renal, Neurologic, And Skeletal Syndrome	Atrioventricular canal defect, Biliary cirrhosis, Unbalanced atrioventricular canal defect, Later...	OMIM:619534
Indolent Systemic Mastocytosis	Mastocytosis, Lymphadenopathy, Increased proportion of CD25+ mast cells, Hepatomegaly, Abnormal m...	ORPHA:98848
Baraitser-Winter Syndrome 2	Microphthalmia, Webbed neck, Ventriculomegaly	OMIM:614583
Fraser Syndrome 1	Abnormal small intestine morphology, Encephalocele, Myelomeningocele, Abnormality of the anus, Bi...	OMIM:219000
American Trypanosomiasis	Achalasia, Aganglionic megacolon, Lymphadenopathy, Hepatomegaly, Myocarditis, Splenomegaly, Cardi...	ORPHA:3386
Cholestasis, Progressive Familial Intrahepatic, 2	Intermittent jaundice, Cirrhosis, Fat malabsorption, Hepatocellular carcinoma, Intrahepatic chole...	OMIM:601847
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Leukopenia, Anemia, Patent foramen ovale, Recurrent respiratory infections, Nephrotic syndrome, E...	ORPHA:505248
Microphthalmia, Isolated, With Coloboma 10	Microphthalmia, Anophthalmia	OMIM:616428
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Multicystic kidney dysplasia, Hypoperistalsis, Abnormality of the gastrointestinal tract, Hydrour...	ORPHA:2241
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome	Multicystic kidney dysplasia, Intestinal pseudo-obstruction, Fetal megacystis, Cryptorchidism	ORPHA:73246
Verheij Syndrome	Renal cyst, Renal hypoplasia, Abnormal cardiac septum morphology, Renal agenesis	OMIM:615583
Griscelli Syndrome Type 2	Jaundice, Pancytopenia, Lymphadenopathy, Hemophagocytosis, Hepatomegaly, Hyperlipidemia, Neutrope...	ORPHA:79477
Immunodeficiency 7	Hypereosinophilia, Recurrent respiratory infections, Autoimmune hemolytic anemia, Lymphadenopathy...	OMIM:615387
Cryoglobulinemic Vasculitis	Glomerulopathy, Abnormality of the liver, Hematuria, Viral hepatitis, Mediastinal lymphadenopathy...	ORPHA:91138
Joubert Syndrome 39	Hypoplastic left heart, Occipital encephalocele, Polycystic kidney dysplasia	OMIM:619562
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Hydrocephalus, Ventriculomegaly	OMIM:603387
Mucopolysaccharidosis Type 1	Malabsorption, Hydrocephalus, Abnormal heart valve morphology, Abnormal aortic valve morphology, ...	ORPHA:579
Renal Dysplasia	Vesicovaginal fistula, Congenital posterior urethral valve, Moderate proteinuria, Abnormal renal ...	ORPHA:93108
Hartsfield Syndrome	Cleft palate, Encephalocele, Microphthalmia, Lobar holoprosencephaly	ORPHA:2117
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Abnormally low T cell receptor excision circle level, Recurrent respiratory infections, B lymphoc...	OMIM:618987
Pelvis-Shoulder Dysplasia	Ambiguous genitalia, Spina bifida, Hydrocephalus, Hydranencephaly, Bilateral microphthalmos, Micr...	ORPHA:2839
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Hydrocephalus, Ventriculomegaly, Nasofrontal encephalocele	OMIM:614195
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Ventriculomegaly, Renal dysplasia, Hydrocephalus, Meningoencephalocele, Anal atresia, Optic nerve...	OMIM:236670
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Cleft soft palate, Decreased testicular size, Azotemia, Hydrocephalus, Optic nerve hypoplasia, He...	OMIM:619321
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome	Multicystic kidney dysplasia	ORPHA:3270
Crouzon Syndrome	Hydrocephalus	ORPHA:207
Multiple Benign Circumferential Skin Creases On Limbs	Abnormality of the scrotum, Hypospadias, Microphthalmia, Cryptorchidism, Cleft palate, Small scrotum	ORPHA:2505
Koolen-De Vries Syndrome	Vesicoureteral reflux, Renal duplication, Hypothyroidism, Narrow palate, Ventriculomegaly, Abnorm...	ORPHA:96169
Bile Acid Synthesis Defect, Congenital, 1	Cirrhosis, Fat malabsorption, Jaundice, Acholic stools, Steatorrhea, Intrahepatic cholestasis, Gi...	OMIM:607765
Cold Agglutinin Disease	Hemolytic anemia, Lymphadenopathy, Abnormal urinary color, Hepatomegaly, Splenomegaly	ORPHA:56425
Refsum Disease	Microphthalmia, Renal insufficiency, Splenomegaly, Cardiomyopathy	ORPHA:773
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Agenesis of corpus callosum, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	OMIM:618476
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Primary amenorrhea, Cirrhosis, Microvesicular hepatic steatosis, Anemia, Ventriculomegaly, High p...	OMIM:619418
Gamma-Heavy Chain Disease	Neoplasm of the tongue, Anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphad...	ORPHA:100026
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Dysplastic corpus callosum, Failure to thrive in infancy, Ventriculomegaly, Lateral ventricle dil...	ORPHA:488627
Autoimmune Lymphoproliferative Syndrome	Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Coombs-positive...	OMIM:601859
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Gliosis, Lateral ventricle dilatation	OMIM:607485
Intellectual Developmental Disorder, Autosomal Dominant 65	Noncommunicating hydrocephalus, Agenesis of corpus callosum	OMIM:619320
Hurler Syndrome	Endocardial fibroelastosis, Cardiomyopathy, Recurrent respiratory infections, Dermatan sulfate ex...	OMIM:607014
Immunodeficiency 60 And Autoimmunity	Crohn's disease, Bronchiectasis, Ulcerative colitis, Pancytopenia, Recurrent sinopulmonary infect...	OMIM:618394
Frontonasal Dysplasia 1	Anterior basal encephalocele, Cranium bifidum occultum, Microphthalmia, Tetralogy of Fallot, Medi...	OMIM:136760
Dyskeratosis Congenita, Autosomal Recessive 2	Cirrhosis, Pancytopenia, Testicular atrophy, Bone marrow hypocellularity, Oral leukoplakia, Throm...	OMIM:613987
Endocrine-Cerebroosteodysplasia	Ambiguous genitalia, Ventriculomegaly, Sex reversal, Microphallus, Enlarged kidney, Hydrocephalus...	OMIM:612651
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Gastroesophageal reflux, Morphological abnormality of the gastrointestinal tract, Precocious pube...	ORPHA:369837
Portal Hypertension, Noncirrhotic, 1	Esophageal varix, Portal hypertension, Splenomegaly, Hepatomegaly	OMIM:617068
Intellectual Developmental Disorder, Autosomal Dominant 48	Dilated fourth ventricle, Lateral ventricle dilatation	OMIM:617751
Foveal Hypoplasia 2	Hypoplasia of the fovea, Microphthalmia	OMIM:609218
Bile Acid Synthesis Defect, Congenital, 3	Cirrhosis, Hepatitis, Hyperbilirubinemia, Jaundice, Acholic stools, Steatorrhea, Hepatic bridging...	OMIM:613812
Chromosome 6Q24-Q25 Deletion Syndrome	Agenesis of corpus callosum, Hydrocephalus, Lateral ventricle dilatation	OMIM:612863
Epidermal Nevus Syndrome	Polycystic kidney dysplasia	ORPHA:35125
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Agenesis of corpus callosum, Hydrocephalus, Dandy-Walker malformation	ORPHA:459061
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Pleuritis, Recurrent pharyngitis, Pericarditis, Lymphadenopathy, Intestinal obstruction, Leukocyt...	ORPHA:32960
Alpha-Thalassemia	Anemia, Hemolytic anemia, Hypersplenism, Jaundice, Cholelithiasis, Abnormal hemoglobin, Splenomeg...	ORPHA:846
Xeroderma Pigmentosum, Complementation Group G	Microphthalmia	OMIM:278780
Lesch-Nyhan Syndrome	Hyperuricemia, Megaloblastic anemia, Testicular atrophy, Dysphagia, Nephrocalcinosis, Nephrolithi...	OMIM:300322
Ménétrier Disease	Abnormal gastric mucosa morphology, Gastroesophageal reflux, Stomach cancer, Multiple gastric pol...	ORPHA:2494
Kikuchi-Fujimoto Disease	Abnormal lymph node morphology, Leukopenia, Anemia, Myocarditis, Abnormal pulmonary interstitial ...	ORPHA:50918
Osteootohepatoenteric Syndrome	Hepatic fibrosis, Grade II vesicoureteral reflux, Anemia, Prolonged neonatal jaundice, Microvesic...	OMIM:619377
Subaortic Stenosis-Short Stature Syndrome	Subvalvular aortic stenosis, Abnormal circulating lipid concentration, Type II diabetes mellitus,...	ORPHA:3191
Bardet-Biedl Syndrome 6	External genital hypoplasia, Renal cyst, Vaginal atresia, Hypospadias, Diabetes mellitus	OMIM:605231
Autoimmune Hepatitis	Increased total bilirubin, Cirrhosis, Fulminant hepatitis, Sclerosing cholangitis, Diffuse hepati...	ORPHA:2137
Omenn Syndrome	Anemia, Hypoplasia of the thymus, B lymphocytopenia, Severe B lymphocytopenia, Lymphadenopathy, H...	OMIM:603554
Cerebrooculofacioskeletal Syndrome 2	Microphthalmia, Small scrotum, Micropenis	OMIM:610756
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Meningocele, Multicystic kidney dysplasia, Ventriculomegaly, Renal cyst, Glossoptosis, Congenital...	ORPHA:2031
X-Linked Lymphoproliferative Disease	T lymphocytopenia, Hepatosplenomegaly, Increased T cell count, Bone marrow hypocellularity, Cervi...	ORPHA:2442
Microphthalmia, Syndromic 5	Anophthalmia, Optic nerve hypoplasia, Ectopic posterior pituitary, Microphthalmia, Cryptorchidism...	OMIM:610125
Histiocytoid Cardiomyopathy	Cardiomegaly, Ventricular septal defect, Pulmonary edema, Hydrocephalus, Renal cyst, Polycystic o...	ORPHA:137675
Autoimmune Lymphoproliferative Syndrome	Coombs-positive hemolytic anemia, Hepatocellular carcinoma, Reticulocytosis, Glomerulonephritis, ...	ORPHA:3261
15q26 overgrowth syndrome	Vesicoureteral reflux, High palate, Abnormality of the kidney, Polycystic kidney dysplasia, Renal...	DECIPHER:81
Cinca Syndrome	Anemia, Hepatosplenomegaly, Lymphadenopathy, Elevated circulating C-reactive protein concentratio...	OMIM:607115
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Absent gallbladder, Anemia, Ventricular septal defect, Hyperbilirubinemia, Hydrocephalus, Hypocal...	ORPHA:163979
Macrophage Activation Syndrome	Abnormal natural killer cell count, Anemia, Hypertriglyceridemia, Hepatitis, Lymphadenopathy, Inc...	ORPHA:158061
Congenital Megacalycosis	Tubulointerstitial nephritis, Dilatation of renal calices, Recurrent urinary tract infections, En...	ORPHA:93109
Ventriculomegaly With Cystic Kidney Disease	Hydrocephalus, Ventriculomegaly	OMIM:219730
Diaphanospondylodysostosis	Cleft palate, Myelomeningocele, Multiple renal cysts	ORPHA:66637
Holoprosencephaly 14	Aqueductal stenosis, Ventriculomegaly, Hydrocephalus, Alobar holoprosencephaly, Subependymal cyst...	OMIM:619895
Mody	Pancreatic hypoplasia, Transient neonatal diabetes mellitus, Glycosuria, Abnormality of the kidne...	ORPHA:552
Glycogen Storage Disease Ib	Hyperuricemia, Neutropenia, Enlarged kidney, Pancreatitis, Hepatocellular carcinoma, Inflammation...	OMIM:232220
Focal Dermal Hypoplasia	Thin skin, Gastroesophageal reflux, Multicystic kidney dysplasia, Ventricular septal defect, Abno...	ORPHA:2092
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Partial agenesis of the corpus callosum, Dilated third ventricle, Obesity, Lateral ventricle dila...	OMIM:617296
Immunodeficiency With Hyper-Igm, Type 3	Absence of lymph node germinal center, Neutropenia	OMIM:606843
Monosomy 18P	Hypothyroidism, Webbed neck, Holoprosencephaly, Microphthalmia, Cleft palate	ORPHA:1598
Wolman Disease	Anemia, Adrenal insufficiency, Steatorrhea, Bone-marrow foam cells, Hepatomegaly, Esophageal vari...	ORPHA:75233
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome	Lymphadenopathy, Crohn's disease, Type I diabetes mellitus, Proteinuria	ORPHA:69126
D-Bifunctional Protein Deficiency	High palate, Ventriculomegaly, Increased circulating very long-chain fatty acid concentration, Pr...	OMIM:261515
1Q21.1 Microdeletion Syndrome	Vesicoureteral reflux, High palate, Abnormal cardiac septum morphology, Ankyloglossia, Hydrocepha...	ORPHA:250989
Intellectual Developmental Disorder, Autosomal Dominant 56	Lateral ventricle dilatation	OMIM:617854
Duane-Radial Ray Syndrome	Vesicoureteral reflux, Crossed fused renal ectopia, Ventricular septal defect, Renal malrotation,...	OMIM:607323
Microphthalmia, Lenz Type	Webbed neck, Renal hypoplasia/aplasia, Hydroureter, Hypospadias, Microphthalmia, Cryptorchidism, ...	ORPHA:568
Polyposis of gastric fundus without polyposis coli	Abnormal gastric mucosa morphology, Multiple gastric polyps	OMIM:175505
Primary Myelofibrosis	Anemia, Extramedullary hematopoiesis, Pancytopenia, Hepatosplenomegaly, Poikilocytosis, Lymphaden...	ORPHA:824
Ring Chromosome 10 Syndrome	Renal hypoplasia/aplasia, Aganglionic megacolon, Hypocalcemia, Microphthalmia	ORPHA:1438
Braddock-Carey Syndrome 1	Multicystic kidney dysplasia, Ventricular septal defect, Aortic valve prolapse, Anteriorly placed...	OMIM:619980
Osteopetrosis, Autosomal Recessive 8	Anemia, Unilateral microphthalmos, Hepatomegaly, Thrombocytopenia, Splenomegaly	OMIM:615085
8P11.2 Deletion Syndrome	High palate, Hemolytic anemia, Hypogonadism, Mitral valve prolapse, Azoospermia, Hypoplasia of pe...	ORPHA:251066
Progressive Non-Fluent Aphasia	Astrocytosis	ORPHA:100070
Pulmonary Non-Tuberculous Mycobacterial Infection	Pneumothorax, Bronchiectasis, Pericardial effusion, Pleural effusion, Lymphadenopathy	ORPHA:411703
Joubert Syndrome 22	Renal hypoplasia, Microphthalmia	OMIM:615665
Pontocerebellar Hypoplasia, Type 7	Ambiguous genitalia, High palate, Ventriculomegaly, Hydrocephalus, Cryptorchidism, Micropenis	OMIM:614969
Multiple Myeloma	Anemia, Nephrotic syndrome, Acute kidney injury, Functional abnormality of the gastrointestinal t...	ORPHA:29073
Thymic Aplasia	Hypothyroidism, Hypocalcemic tetany, T lymphocytopenia, Recurrent urinary tract infections, Malab...	ORPHA:83471
Basel-Vanagaite-Smirin-Yosef Syndrome	Dilated third ventricle, Ventricular septal defect, Lateral ventricle dilatation, Atrial septal d...	ORPHA:464738
Gorlin Syndrome	Hypogonadotropic hypogonadism, Hydrocephalus, Cryptorchidism	ORPHA:377
Q Fever	Endocarditis, Anemia, Abnormal pulmonary interstitial morphology, Abnormality of the liver, Hepat...	ORPHA:781
Fryns Microphthalmia Syndrome	Bilateral cleft lip and palate, Microphthalmia, Anophthalmia, Neural tube defect	OMIM:600776
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Abnormality of the pancreas, Narrow palate, Bifid scrotum, Hydrocephalus, Anteriorly placed anus,...	ORPHA:1555
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Hydrocephalus	OMIM:300863
Plasminogen Deficiency, Type I	Ventriculomegaly, Duodenal ulcer, Hydrocephalus, Nephritis, Recurrent upper respiratory tract inf...	OMIM:217090
Duodenal Neuroendocrine Tumor	Intestinal fistula, Extrahepatic cholestasis, Increased hematocrit, Increased circulating ACTH le...	ORPHA:100076
Genitopatellar Syndrome	Gastroesophageal reflux, Multicystic kidney dysplasia, Pulmonary hypoplasia, Atrial septal defect...	ORPHA:85201
Tuberous Sclerosis 1	Hypothyroidism, Precocious puberty, Adenoma sebaceum, Renal angiomyolipoma, Renal cell carcinoma,...	OMIM:191100
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Ambiguous genitalia, Decreased circulating dehydroepiandrosterone-sulfate concentration, Decrease...	ORPHA:95699
Desmosterolosis	Partial agenesis of the corpus callosum, Failure to thrive, Hydrocephalus, Ventriculomegaly	OMIM:602398
Pyruvate Kinase Deficiency Of Red Cells	Reduced haptoglobin level, Unconjugated hyperbilirubinemia, Jaundice, Erythroid hyperplasia, Reti...	OMIM:266200
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Ventricular septal defect, Renal cyst, Horseshoe kidney, Cryptorchidism, Abnormality of the endoc...	ORPHA:166035
Sézary Syndrome	Abnormal pleura morphology, Lymphadenopathy, Hepatomegaly, Splenomegaly, Abnormal lymphocyte morp...	ORPHA:3162
Chronic Granulomatous Disease	Liver abscess, Malabsorption, Pyloric stenosis, Abnormality of neutrophils, Tracheoesophageal fis...	ORPHA:379
Fanconi Anemia, Complementation Group S	Anemia, Narrow palate, Microphthalmia, Ovarian carcinoma, Ovarian neoplasm	OMIM:617883
1P36 Deletion Syndrome	Hypothyroidism, Ventriculomegaly, Abnormality of the anus, Abnormal cardiac septum morphology, He...	ORPHA:1606
Albers-Schönberg Osteopetrosis	Hydrocephalus	ORPHA:53
Immunodeficiency 31C	Hypothyroidism, Recurrent respiratory infections, Villous atrophy, Bronchiectasis, Intussusceptio...	OMIM:614162
Congenital Disorder Of Glycosylation, Type Iif	Thrombocytopenia, Neutropenia, Decreased platelet glycoprotein Ib, Macrothrombocytopenia	OMIM:603585
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome	Pyloric stenosis, Bilateral cryptorchidism, High palate	ORPHA:314575
Fraser Syndrome	Ambiguous genitalia, Bifid tongue, Ectopic anus, Pulmonary hypoplasia, Female pseudohermaphroditi...	ORPHA:2052
Classic Hodgkin Lymphoma	Splenomegaly, Lymphadenopathy, Bone marrow hypocellularity, Hepatomegaly	ORPHA:391
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Mitral valve calcification, Hepatic fibrosis, Anemia, Bacterial endocarditis, Ventriculomegaly, A...	ORPHA:2072
Dyrk1A-Related Intellectual Disability Syndrome	Gastroesophageal reflux, Anterior pituitary hypoplasia, Ventriculomegaly, Ventricular septal defe...	ORPHA:464306
Macrocephaly/Autism Syndrome	High palate, Hydrocele testis, Lymphopenia, Penile freckling, Hepatomegaly, Splenomegaly	OMIM:605309
Joubert Syndrome With Renal Defect	Hydrocephalus, Encephalocele, Agenesis of corpus callosum	ORPHA:220497
Wilson Disease	Aminoaciduria, Hyperphosphaturia, Decreased circulating ceruloplasmin concentration, Hepatocellul...	OMIM:277900
Thakker-Donnai Syndrome	Webbed neck, Ventricular septal defect, Communicating hydrocephalus, Anal atresia, Tracheoesophag...	ORPHA:1780
Myotonic Dystrophy 1	Testicular atrophy, Cholelithiasis, Hypogonadism, Dysphagia	OMIM:160900
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Ventriculomegaly, Renal dysplasia, Bifid uvula, Hepatosplenomegaly, Reduced renal corticomedullar...	OMIM:266920
Dehydrated Hereditary Stomatocytosis	Increased total bilirubin, Intermittent jaundice, Increased mean corpuscular hemoglobin concentra...	ORPHA:3202
Leigh Syndrome With Nephrotic Syndrome	Tubulointerstitial nephritis, Renal tubular acidosis, Nephrotic syndrome, Renal cyst, Cardiomegal...	ORPHA:255249
Hennekam Syndrome	Malabsorption, Pericardial effusion, Pulmonary lymphangiectasia, Pyloric stenosis, Lymphopenia, E...	ORPHA:2136
Metachromatic Leukodystrophy	Urinary incontinence, Abnormal duodenum morphology, Intussusception, Abnormal stomach morphology,...	ORPHA:512
Common Variable Immunodeficiency	Abnormality of the liver, Hemolytic anemia, Bronchiectasis, Recurrent respiratory infections, Rec...	ORPHA:1572
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Vesicoureteral reflux, Gastroesophageal reflux, Patent foramen ovale, High palate, Ventriculomega...	OMIM:616975
Cach Syndrome	Lateral ventricle dilatation	ORPHA:135
Attenuated Familial Adenomatous Polyposis	Duodenal polyposis, Neoplasm of the stomach, Colorectal polyposis, Adenocarcinoma of the colon, L...	ORPHA:220460
Oculocerebrocutaneous Syndrome	Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	ORPHA:1647
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Patent foramen ovale, High palate, Ventricular septal defect, Macroglossia, Bilateral microphthal...	ORPHA:369891
Cardiofaciocutaneous Syndrome	Webbed neck, High palate, Abnormality of the gastrointestinal tract, Functional abnormality of th...	ORPHA:1340
Storage Pool Platelet Disease	Decreased mean platelet volume, Acute leukemia	OMIM:185050
Malakoplakia	Dysuria, Urinary urgency, Neoplasm of the rectum, Neoplasm of the colon, Hematuria, Abnormality o...	ORPHA:556
Microphthalmia With Brain And Digit Anomalies	High palate, Anophthalmia, Microphthalmia, Cryptorchidism, Abnormality of the hypothalamus-pituit...	ORPHA:139471
Microphthalmia, Isolated 6	Microphthalmia	OMIM:613517
Joubert Syndrome 7	Nephronophthisis, Renal cyst, Encephalocele, Stage 5 chronic kidney disease	OMIM:611560
Muenke Syndrome	Hydrocephalus	ORPHA:53271
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Hypothyroidism, Hepatic fibrosis, Anemia, Patent foramen ovale, Exocrine pancreatic insufficiency...	OMIM:620005
Smith-Lemli-Opitz Syndrome	Atrioventricular canal defect, Ambiguous genitalia, Bifid tongue, Ventriculomegaly, Pulmonary hyp...	ORPHA:818
Oculocerebrorenal Syndrome Of Lowe	Aminoaciduria, Glomerulopathy, Ventriculomegaly, Buphthalmos, Hyponatremia, Hypercholesterolemia,...	ORPHA:534
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Pancreatic cysts, Hepatic fibrosis, Jaundice, Pulmonary hypoplasia, Nephritis, Renal cyst, Pancre...	OMIM:208500
Gaucher Disease Type 1	Leukopenia, Cirrhosis, Anemia, Abnormal pulmonary interstitial morphology, Pericardial effusion, ...	ORPHA:77259
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	T lymphocytopenia, Lymphocytosis, Decreased proportion of CD3-positive T cells, Decreased proport...	ORPHA:169154
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	High palate, Ventriculomegaly, Ventricular septal defect, Increased urine alpha-ketoglutarate con...	OMIM:220500
Thrombocytopenia 3	Thrombocytopenia, Decreased mean platelet volume	OMIM:273900
Opitz-Kaveggia Syndrome	Narrow palate, Pyloric stenosis, Hydrocephalus, Anal atresia, Intestinal malrotation, Anteriorly ...	OMIM:305450
Microphthalmia, Isolated 2	Microphthalmia	OMIM:610093
2P15P16.1 Microdeletion Syndrome	Multicystic kidney dysplasia, High palate, Ventriculomegaly, Hypogonadism, Decreased testicular s...	ORPHA:261349
Isotretinoin Embryopathy-Like Syndrome	Hydrocephalus	OMIM:243440
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Irregular menstruation, Hypercholesterolemia, Hepatic fibrosis, Cirrhosis, Anemia, Renal tubular ...	ORPHA:79240
Scrub Typhus	Lymphadenopathy, Myocarditis, Renal insufficiency, Splenomegaly	ORPHA:83317
Osteoporosis-Pseudoglioma Syndrome	Isosexual precocious puberty, Microphthalmia	ORPHA:2788
16P13.2 Microdeletion Syndrome	Gastroesophageal reflux, Dilated third ventricle, Ventriculomegaly, Hypogonadism, Hydrocephalus, ...	ORPHA:500055
Giant Axonal Neuropathy 1, Autosomal Recessive	Lateral ventricle dilatation	OMIM:256850
Microphthalmia, Isolated 5	Microphthalmia	OMIM:611040
Microphthalmia, Isolated, With Coloboma 3	Microphthalmia	OMIM:610092
Trisomy 20P	Macroorchidism, Ectopic anus, Spina bifida, Abnormality of the kidney, Hypospadias, Abnormality o...	ORPHA:261318
Ulnar-Mammary Syndrome	Decreased fertility, Ventricular septal defect, Ectopic anus, Pyloric stenosis, Hypoplasia of pen...	ORPHA:3138
Diaphanospondylodysostosis	Abnormal liver lobulation, Webbed neck, Enlarged kidney, Cystic renal dysplasia, Pulmonary hypopl...	OMIM:608022
Severe Generalized Junctional Epidermolysis Bullosa	Pneumothorax, Urethral stricture, Abnormal blood ion concentration, Abnormality of the bladder, P...	ORPHA:79404
Hyperparathyroidism, Transient Neonatal	Gastroesophageal reflux, Ventriculomegaly, Enlarged kidney, Splenic cyst, Communicating hydroceph...	OMIM:618188
Hurler Syndrome	Cardiomyopathy, Hydrocephalus, Abnormal heart valve morphology, Macroglossia, Mucopolysaccharidur...	ORPHA:93473
Fish-Eye Disease	Lymphadenopathy, Decreased HDL cholesterol concentration, Splenomegaly, Hepatomegaly	ORPHA:79292
Chops Syndrome	Gastroesophageal reflux, Vesicoureteral reflux, Patent foramen ovale, Aspiration pneumonia, Ventr...	OMIM:616368
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Dilated third ventricle, Lateral ventricle dilatation, Hydrocephalus, Failure to thrive, Overweight	OMIM:619575
Simpson-Golabi-Behmel Syndrome	Supernumerary nipple, Hepatoblastoma, Hepatomegaly, Cleft palate, Splenomegaly, Nephroblastoma, M...	ORPHA:373
Hydrolethalus Syndrome 1	Hydronephrosis, Ventricular septal defect, Arrhinencephaly, Anencephaly, Abnormal lung lobation, ...	OMIM:236680
Chromosome 6Pter-P24 Deletion Syndrome	Agenesis of corpus callosum, Hydrocephalus, Dandy-Walker malformation	OMIM:612582
Transketolase Deficiency	Patent foramen ovale, Ventricular septal defect, Secondary amenorrhea, Increased level of ribose ...	ORPHA:488618
Osteopetrosis, Autosomal Recessive 5	Anemia, Ventriculomegaly, Hyperbilirubinemia, Hydrocephalus, Extramedullary hematopoiesis, Hypoca...	OMIM:259720
Fanconi Anemia, Complementation Group J	Microphthalmia, Bone marrow hypocellularity	OMIM:609054
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Leukopenia, Anemia, Renal artery aneurysm, Esophageal varix, Type I diabetes mellitus, Pancytopen...	OMIM:615688
Poems Syndrome	Hypothyroidism, Increased circulating prolactin concentration, Hypogonadism, Pericardial effusion...	ORPHA:2905
Dominant Beta-Thalassemia	Hypothyroidism, Abnormality of iron homeostasis, Adrenal insufficiency, Hepatocellular carcinoma,...	ORPHA:231226
Cinca Syndrome	Anemia, Abnormal granulocyte morphology, Abnormality of neutrophils, Lymphadenopathy, Elevated ci...	ORPHA:1451
Apert Syndrome	Narrow palate, Ventriculomegaly, Ectopic anus, Esophageal atresia, Ventricular septal defect, Pyl...	OMIM:101200
Dyssegmental Dysplasia, Silverman-Handmaker Type	Encephalocele, Hydrocephalus, Pulmonary hypoplasia, Abnormal heart morphology, Cryptorchidism, Cl...	ORPHA:1865
Sclerosing Cholangitis, Neonatal	Vesicoureteral reflux, Biliary cirrhosis, Cirrhosis, Sclerosing cholangitis, Jaundice, Acholic st...	OMIM:617394
Proximal 16P11.2 Microdeletion Syndrome	Gastroesophageal reflux, Multicystic kidney dysplasia, Ventriculomegaly, Pyloric stenosis, Abnorm...	ORPHA:261197
Mucopolysaccharidosis Type 3	Respiratory tract infection, Cardiomegaly, Aspiration pneumonia, Ventriculomegaly, Abnormal mitra...	ORPHA:581
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Lymphocytosis, Thrombocytopenia, Decreased mean platelet volume, Elevated circulating C-reactive ...	OMIM:617718
Waldenström Macroglobulinemia	Leukemia, Malabsorption, Normocytic anemia, Abnormality of neutrophils, Pleural effusion, Lymphad...	ORPHA:33226
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Abnormally large globe, Aganglionic megacolon, Hydrocephalus, Anteriorly placed anus, Abnormal he...	OMIM:239300
Craniotelencephalic Dysplasia	Arrhinencephaly, Frontal encephalocele, Microphthalmia, Optic nerve hypoplasia	OMIM:218670
Multiple Sulfatase Deficiency	Hydrocephalus, Ventriculomegaly, Increased CSF protein concentration	OMIM:272200
Goodpasture Syndrome	Glomerular crescent formation, Anemia, Pulmonary hemorrhage, Bloody bronchoalveolar lavage fluid,...	OMIM:233450
Tuberous Sclerosis 2	Hypothyroidism, Precocious puberty, Adenoma sebaceum, Renal angiomyolipoma, Renal cell carcinoma,...	OMIM:613254
Developmental Delay With Or Without Dysmorphic Facies And Autism	Vesicoureteral reflux, Patent foramen ovale, Ventriculomegaly, Ventricular septal defect, Microph...	OMIM:618454
Thrombocytopenia 1	Congenital thrombocytopenia, Decreased mean platelet volume, Intermittent thrombocytopenia	OMIM:313900
Autosomal Dominant Centronuclear Myopathy	Urinary incontinence, Pyloric stenosis, Mildly elevated creatine kinase, Cryptorchidism	ORPHA:169189
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia	Urethrovesical occlusion, Elevated maternal serum alpha-fetoprotein, Congenital pyloric atresia, ...	OMIM:226730
Gaucher Disease	Ventriculomegaly, Hepatomegaly, Dysphagia, Thrombocytopenia, Aortic valve calcification, Splenome...	ORPHA:355
Peroxisome Biogenesis Disorder 11A (Zellweger)	Renal cyst, Multiple renal cysts	OMIM:614883
Sickle Cell Disease	Hemolytic anemia, Target cells, Priapism, Splenic infarction, Jaundice, Hematuria, Increased red ...	OMIM:603903
Cutis Laxa, Autosomal Recessive, Type Ic	Gastroesophageal reflux, Patent foramen ovale, Hypoplasia of the thymus, Atelectasis, Pyloric ste...	OMIM:613177
Harrod Syndrome	Hypospadias, Multicystic kidney dysplasia, High palate, Cryptorchidism	ORPHA:2115
Tyrosinemia, Type I	Hepatocellular carcinoma, Elevated circulating alpha-fetoprotein concentration, Hypertrophic card...	OMIM:276700
Oxoglutaric Aciduria	Hydrocephalus	ORPHA:31
Galloway-Mowat Syndrome 3	High palate, Ventriculomegaly, Nephrotic syndrome, Stage 5 chronic kidney disease, Glomerular scl...	OMIM:617729
Isolated Biliary Atresia	Atretic gallbladder, Cirrhosis, Hypothyroidism, Periportal fibrosis, Dark yellow urine, Fat malab...	ORPHA:30391
Bile Acid Synthesis Defect, Congenital, 2	Jaundice, Hyperbilirubinemia, Steatorrhea, Intrahepatic cholestasis, Hepatomegaly, Splenomegaly	OMIM:235555
Microphthalmia, Syndromic 3	Anterior pituitary hypoplasia, Anophthalmia, Ventricular septal defect, Esophageal atresia, Optic...	OMIM:206900
Cataract 9, Multiple Types	Microphthalmia	OMIM:604219
Graft Versus Host Disease	Hyperbilirubinemia, Jaundice, Gastrointestinal inflammation, Recurrent gastroenteritis, Hepatospl...	ORPHA:39812
Thoracic Dysplasia-Hydrocephalus Syndrome	Communicating hydrocephalus	ORPHA:1861
17Q12 Microduplication Syndrome	Tracheoesophageal fistula, Cleft palate, Microphthalmia, Atrial septal defect	ORPHA:261272
Sandestig-Stefanova Syndrome	High palate, Ventriculomegaly, Perimembranous ventricular septal defect, Muscular ventricular sep...	OMIM:618804
Osteopetrosis, Autosomal Recessive 1	Anemia, Hydrocephalus, Hypocalcemia, Pancytopenia, Hepatomegaly, Thrombocytopenia, Splenomegaly	OMIM:259700
Knobloch Syndrome	Vesicoureteral reflux, Bifid ureter, Pyloric stenosis, Hydrocephalus, Dextrocardia, Occipital enc...	ORPHA:1571
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Gastroesophageal reflux, Ventriculomegaly, Ventricular septal defect, Posterior pituitary hypopla...	ORPHA:464311
Liver Disease, Severe Congenital	Subvalvular aortic stenosis, Aminoaciduria, Portal inflammation, Hyperinsulinemic hypoglycemia, E...	OMIM:619991
Boutonneuse Fever	Leukopenia, Renal insufficiency, Lymphadenopathy, Cervical lymphadenopathy, Thrombocytopenia	ORPHA:83313
Joubert Syndrome With Ocular Defect	Hydrocephalus, Encephalocele, Agenesis of corpus callosum	ORPHA:220493
Pseudo-Torch Syndrome 2	Ventriculomegaly, Lateral ventricle dilatation	OMIM:617397
Chromosome 17Q12 Deletion Syndrome	Unicornuate uterus, Multicystic kidney dysplasia, Hypoplasia of the bladder, High palate, Recurre...	OMIM:614527
Dubowitz Syndrome	Anemia, Abnormality of female external genitalia, High palate, Malabsorption, Hydrocephalus, Acut...	ORPHA:235
Budd-Chiari Syndrome	Cirrhosis, Malabsorption, Ascites, Jaundice, Esophageal varix, Cholecystitis, Intestinal obstruct...	ORPHA:131
Microphthalmia, Syndromic 13	Microphthalmia	OMIM:300915
Diffuse Cutaneous Mastocytosis	Abnormality of the liver, Lymphocytosis, Lymphadenopathy, Hepatomegaly, Myeloproliferative disord...	ORPHA:79456
Chronic Intestinal Pseudoobstruction	Intestinal malrotation, Pyloric stenosis, Abnormal platelet morphology, Abnormal intestine morpho...	ORPHA:2978
Beckwith-Wiedemann Syndrome	Hypothyroidism, Gonadoblastoma, Large intestinal polyposis, Hepatoblastoma, Elevated circulating ...	ORPHA:116
Khan-Khan-Katsanis Syndrome	Vesicoureteral reflux, Anemia, Patent foramen ovale, Ventriculomegaly, Colpocephaly, Lymphopenia,...	OMIM:618460
Proteasome-Associated Autoinflammatory Syndrome 2	Increased CD4:CD8 ratio, B lymphocytopenia, Lymphadenopathy, Elevated circulating C-reactive prot...	OMIM:618048
Thanatophoric Dysplasia Type 1	Hydrocephalus, Ventriculomegaly	ORPHA:1860
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Hyperbilirubinemia, Jaundice, Reticulocytosis, Cholecystitis, Cholelithiasis, ...	OMIM:235700
Cranioectodermal Dysplasia 2	Patent foramen ovale, Biliary cirrhosis, High palate, Hyperbilirubinemia, Polysplenia, Left ventr...	OMIM:613610
Spondylo-Ocular Syndrome	Microphthalmia, Webbed neck, Aplasia/Hypoplasia of the lens, Ventricular septal defect	ORPHA:85194
Acquired Aneurysmal Subarachnoid Hemorrhage	Hypothyroidism, Hyperglycorrhachia, Hydrocephalus, Hypopituitarism, Left ventricular hypertrophy,...	ORPHA:90065
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Hydrocephalus, Encephalocele, Ventriculomegaly, Agenesis of corpus callosum	OMIM:613150
Carcinoid Syndrome	Hepatic necrosis, Increased serum serotonin, Atypical pulmonary carcinoid tumor, Pulmonary carcin...	ORPHA:100093
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Encephalocele, Ventriculomegaly, Hydrocephalus, Partial agenesis of the corpus callosum, Dandy-Wa...	OMIM:614643
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Lateral ventricle dilatation	OMIM:619995
Mevalonic Aciduria	Anemia, Elevated urine mevalonic acid level, Hepatosplenomegaly, Elevated circulating creatine ki...	OMIM:610377
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hemolytic anemia, Hypoplasia of the iris, Lymphadenopathy, Hepatomegaly, Thrombocytopenia, Pneumo...	ORPHA:169090
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Microphthalmia	OMIM:610023
Drug Reaction With Eosinophilia And Systemic Symptoms	Tubulointerstitial nephritis, Nephrotic syndrome, Hepatitis, Lymphocytosis, Thyroiditis, Intersti...	ORPHA:139402
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Hydrocephalus	ORPHA:163966
Mycosis Fungoides	Lymphadenopathy, Psoriasiform dermatitis	OMIM:254400
Beta-Thalassemia Major	Hypothyroidism, Abnormality of iron homeostasis, Adrenal insufficiency, Hepatocellular carcinoma,...	ORPHA:231214
Nabais Sa-De Vries Syndrome, Type 2	Gastroesophageal reflux, Hypothyroidism, Multicystic kidney dysplasia, High palate, Hypoplastic l...	OMIM:618829
Acrodysostosis 1 With Or Without Hormone Resistance	Irregular menstruation, Hyperphosphatemia, Elevated circulating thyroid-stimulating hormone conce...	OMIM:101800
Structural Heart Defects And Renal Anomalies Syndrome	Webbed neck, Truncus arteriosus, Ventricular septal defect, Atrial septal defect, Renal cyst, Par...	OMIM:617478
Kabuki Syndrome	Precocious puberty, Crossed fused renal ectopia, Ventriculomegaly, High palate, Abnormal cardiac ...	ORPHA:2322
Warburg Micro Syndrome 2	Hypoplastic labia majora, Microphthalmia, Cryptorchidism, Small scrotum, Micropenis	OMIM:614225
Cole-Carpenter Syndrome 1	Hydrocephalus, Communicating hydrocephalus	OMIM:112240
Microphthalmia With Limb Anomalies	High palate, Anophthalmia, Unilateral cryptorchidism, Microphthalmia, Cleft palate	OMIM:206920
Hydrocephaly-Low Insertion Umbilicus Syndrome	Communicating hydrocephalus	ORPHA:2184
Selective Igm Deficiency	Lymphadenitis, Stomach cancer, Crohn's disease, Thyroid carcinoma, Recurrent urinary tract infect...	ORPHA:331235
Ohdo Syndrome, X-Linked	High palate, Shawl scrotum, Microphthalmia, Cryptorchidism, Small scrotum, Micropenis, Hiatus hernia	OMIM:300895
Monosomy 18Q	Hypothyroidism, High palate, Absence of the pulmonary valve, Bilateral cryptorchidism, Hydrocepha...	ORPHA:1600
Lateral Meningocele Syndrome	Meningocele, High palate, Ventricular septal defect, Neurogenic bladder, Bicuspid aortic valve, H...	OMIM:130720
Cardiofaciocutaneous Syndrome 1	Gastroesophageal reflux, Webbed neck, High palate, Pulmonic stenosis, Hydrocephalus, Submucous cl...	OMIM:115150
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Aminoaciduria, B lymphocytopenia, Communicating hydrocephalus, Sideroblastic anemia, Hypochromic ...	OMIM:616084
Kabuki Syndrome 1	Premature thelarche, Lateral ventricle dilatation, Recurrent aspiration pneumonia, Anoperineal fi...	OMIM:147920
Treacher-Collins Syndrome	Hypoplasia of the thymus, Encephalocele, High palate, Hypoplasia of penis, Thyroid hypoplasia, Tr...	ORPHA:861
Aarskog-Scott Syndrome	Shawl scrotum, Bilateral cryptorchidism, Decreased serum testosterone concentration, Testicular a...	OMIM:305400
Simpson-Golabi-Behmel Syndrome, Type 1	Exaggerated median tongue furrow, Supernumerary nipple, Hepatoblastoma, Duplication of renal pelv...	OMIM:312870
Ileal Neuroendocrine Tumor	Intestinal fistula, Extrahepatic cholestasis, Increased serum serotonin, Zollinger-Ellison syndro...	ORPHA:100078
Jejunal Neuroendocrine Tumor	Intestinal fistula, Extrahepatic cholestasis, Increased serum serotonin, Zollinger-Ellison syndro...	ORPHA:100077
Primary Lipodystrophy	Splenomegaly, Cirrhosis, Type II diabetes mellitus, Hepatic steatosis, Polycystic ovaries, Hyperl...	ORPHA:90970
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Agenesis of corpus callosum, Dilated third ventricle, Lateral ventricle dilatation	OMIM:619244
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Macroorchidism, High palate, Ankyloglossia, Mitral valve prolapse, Unilateral microphthalmos, Hyp...	OMIM:618874
Lymphatic Malformation 6	Gastroesophageal reflux, Hypothyroidism, Webbed neck, Hydrocele testis, Atrial septal defect, Ple...	OMIM:616843
Acute Promyelocytic Leukemia	Leukopenia, Anemia, Hematuria, Pancytopenia, Diffuse alveolar hemorrhage, Metrorrhagia, Lymphaden...	ORPHA:520
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Restrictive cardiomyopathy, High palate, Hydroureter, Renal cyst, Ureteral stenosis, Nephrocalcin...	OMIM:615398
17Q12 Microdeletion Syndrome	Multicystic kidney dysplasia, Shawl scrotum, Renal hypoplasia/aplasia, Diabetes mellitus, Pancrea...	ORPHA:261265
Microphthalmia With Linear Skin Defects Syndrome	Abnormal fallopian tube morphology, Ambiguous genitalia, Abnormality of the anus, Abnormal testis...	ORPHA:2556
Systemic Mastocytosis With Associated Hematologic Neoplasm	Acute myeloid leukemia, Peptic ulcer, Myeloid leukemia, Increased basophil count, Chronic lymphat...	ORPHA:98849
Charge Syndrome	Abnormal cardiac septum morphology, Anterior hypopituitarism, Abnormal soft palate morphology, Ho...	ORPHA:138
Hypocalciuric Hypercalcemia, Familial, Type Iii	Peptic ulcer, Multiple small medullary renal cysts, Renal insufficiency, Hypophosphatemia, Parath...	OMIM:600740
Glycogen Storage Disease Xii	Reduced haptoglobin level, Anemia, Hemoglobinuria, Hyperbilirubinemia, Normocytic anemia, Jaundic...	OMIM:611881
Behçet Disease	Endocarditis, Glomerulopathy, Malabsorption, Pleuritis, Pancreatitis, Pericarditis, Pleural effus...	ORPHA:117
Joubert Syndrome 20	Renal cyst	OMIM:614970
Say Syndrome	Cleft palate, Cystic renal dysplasia, Proximal renal tubular acidosis	OMIM:181180
Congenital Varicella Syndrome	Microphthalmia	ORPHA:291
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Failure to thrive, Hydrocephalus, Ventriculomegaly	ORPHA:395
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Astrocytosis	ORPHA:309854
Large Congenital Melanocytic Nevus	Hydrocephalus	ORPHA:626
Galloway-Mowat Syndrome 1	High palate, Ventriculomegaly, Nephrotic syndrome, Hypoplasia of the iris, Diffuse mesangial scle...	OMIM:251300
Linear Skin Defects With Multiple Congenital Anomalies 3	Failure to thrive, Agenesis of corpus callosum, Lateral ventricle dilatation	OMIM:300952
Immunodeficiency 10	Hypoplasia of the iris, Autoimmune hemolytic anemia, Lymphadenopathy, Thrombocytopenia	OMIM:612783
Developmental Delay With Variable Neurologic And Brain Abnormalities	Microphthalmia	OMIM:619694
Immunodeficiency, Common Variable, 10	Decreased response to growth hormone stimulation test, Abnormal response to ACTH stimulation test...	OMIM:615577
Hajdu-Cheney Syndrome	Ventricular septal defect, Mitral stenosis, Hydrocephalus, Intestinal malrotation, Hypospadias, D...	ORPHA:955
Meige Disease	Pleural effusion, Absence of lymph node germinal center, Lymph node hypoplasia	ORPHA:90186
Beemer-Ertbruggen Syndrome	Thrombocytopenia, Ambiguous genitalia, Communicating hydrocephalus, Cryptorchidism	ORPHA:1237
Esophageal Atresia	Pulmonary hypoplasia, Dysphagia, Abnormality of the urinary system, Cleft palate, Bronchitis, Ven...	ORPHA:1199
Oculofaciocardiodental Syndrome	Abnormal cardiac septum morphology, Mitral valve prolapse, Submucous cleft hard palate, Intestina...	ORPHA:2712
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Hydrocephalus, Ventriculomegaly	OMIM:616538
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Microphthalmia	OMIM:267760
Multiple Endocrine Neoplasia Type 2	Ganglioneuromatosis, Parathyroid adenoma, Neoplasm of the liver, Abnormal tongue morphology, Cerv...	ORPHA:653
Thoracoabdominal Syndrome	Anencephaly, Renal agenesis, Hydrocephalus, Ectopia cordis, Pulmonary hypoplasia, Hypospadias, Cl...	OMIM:313850
3P25.3 Microdeletion Syndrome	Ventricular septal defect, Pyloric stenosis, Atrial septal defect, Microphthalmia, Cleft palate, ...	ORPHA:435638
Drug-Induced Autoimmune Hemolytic Anemia	Increased total bilirubin, Autoimmune hemolytic anemia, Abnormal urinary color, Splenomegaly	ORPHA:90037
Cousin Syndrome	Ambiguous genitalia, female, Ambiguous genitalia, male, Hydrocephalus, Hydranencephaly, Microglos...	OMIM:260660
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Absent gallbladder, Anal atresia, Pulmonary hypoplasia, Esophageal diverticulum, Hamartoma of ton...	OMIM:617925
Slc35A2-Cdg	Failure to thrive in infancy, Dandy-Walker malformation, Lateral ventricle dilatation	ORPHA:356961
Dyskeratosis Congenita	Anorectal anomaly, Splenomegaly, Cirrhosis, Anemia, Abnormal testis morphology, Malabsorption, Ne...	ORPHA:1775
Beare-Stevenson Cutis Gyrata Syndrome	Narrow palate, Ventriculomegaly, High palate, Bifid scrotum, Hydrocephalus, Hypoplastic labia maj...	OMIM:123790
Peho Syndrome	Hydrocephalus, Ventriculomegaly	ORPHA:2836
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Lateral ventricle dilatation	OMIM:620075
Otopalatodigital Syndrome Type 2	Encephalocele, Myelomeningocele, Abnormal cardiac septum morphology, Hydrocephalus, Abnormal hear...	ORPHA:90652
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Anophthalmia, Hypogonadism, External genital hypoplasia, Bifid uvula, Hypoplasia of penis, Submuc...	ORPHA:2250
Primary Hepatic Neuroendocrine Carcinoma	Intermittent jaundice, Hepatic cysts, Neoplasm of the liver, Increased serum serotonin, Neuroendo...	ORPHA:100085
Immunodeficiency 82 With Systemic Inflammation	T lymphocytopenia, Bronchiectasis, Gastritis, Colitis, Pneumonia, Hypernatremia, Splenomegaly, Br...	OMIM:619381
Epidermolysis Bullosa Simplex With Pyloric Atresia	Congenital pyloric atresia, Renal duplication, Aplasia of the bladder, Renal dysplasia, Glomerula...	ORPHA:158684
Cockayne Syndrome Type 3	Astrocytosis	ORPHA:90324
Igg4-Related Ophthalmic Disease	Abnormality of the anterior pituitary, Sialadenitis, Retroperitoneal fibrosis, Prostatitis, Abnor...	ORPHA:449563
Hec Syndrome	Vaginal hydrocele, Cardiomyopathy, Communicating hydrocephalus, Endocardial fibroelastosis	ORPHA:2119
Townes-Brocks Syndrome 1	Hypothyroidism, Renal dysplasia, Bifid uterus, Holoprosencephaly, Vesicoureteral reflux, Multicys...	OMIM:107480
Townes-Brocks Syndrome	Hypothyroidism, Abnormal cardiac septum morphology, Abnormal vagina morphology, Vesicoureteral re...	ORPHA:857
Hypoplasminogenemia	Abnormal fallopian tube morphology, Duodenal ulcer, Hydrocephalus, Abnormality of the ovary, Neph...	ORPHA:722
Axial Osteomalacia	Renal cyst, Polycystic liver disease, Elevated circulating creatine kinase concentration	OMIM:109130
Achondroplasia	Obesity, Hydrocephalus	ORPHA:15
Tenorio Syndrome	Hydrocephalus, Ventriculomegaly	OMIM:616260
Multiple Sulfatase Deficiency	Hydrocephalus, Mucopolysacchariduria, Splenomegaly, Hepatomegaly	ORPHA:585
Osteopetrosis, Autosomal Recessive 2	Anemia, Hydrocephalus, Pancytopenia, Hepatosplenomegaly, Extramedullary hematopoiesis, Thrombocyt...	OMIM:259710
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Meningocele, Dilated third ventricle, Ventriculomegaly, Lateral ventricle dilatation, Failure to ...	ORPHA:397715
Beckwith-Wiedemann Syndrome	Nephroblastoma, Vesicoureteral reflux, Gonadoblastoma, Cardiomegaly, Renal cortical cysts, Pancre...	OMIM:130650
Parenteral Nutrition-Associated Cholestasis	Hepatic fibrosis, Biliary hyperplasia, Cirrhosis, Villous atrophy, Jaundice, Abnormal circulating...	ORPHA:567983
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Intestinal malrotation, Pulmonary hypoplasia, Splenomegaly, Aqueductal stenosis	ORPHA:3035
Schinzel-Giedion Syndrome	Central hypothyroidism, Ventriculomegaly, Pulmonary hypoplasia, Hepatoblastoma, Abnormality of th...	ORPHA:798
3Q29 Microdeletion Syndrome	Subvalvular aortic stenosis, Gastroesophageal reflux, High palate, Hypospadias, Microphthalmia, H...	ORPHA:65286
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Gastroesophageal reflux, Absent scrotum, Absence of labia majora, Hypoplastic labia minora, Decre...	ORPHA:495875
Von Hippel-Lindau Syndrome	Pancreatic cysts, Renal cell carcinoma, Neoplasm of the pancreas, Pulmonary capillary hemangiomat...	OMIM:193300
Medullary cystic kidney disease 2	Tubulointerstitial nephritis, Renal tubular atrophy, Multiple small medullary renal cysts, Hyperu...	OMIM:603860
Immunodeficiency 98 With Autoinflammation, X-Linked	B lymphocytopenia, Type I diabetes mellitus, Autoimmune hemolytic anemia, Lymphadenopathy, Hemoph...	OMIM:301078
Immunodeficiency With Hyper-Igm, Type 1	Cirrhosis, Hemolytic anemia, Hepatitis, Sclerosing cholangitis, Enlarged tonsils, Hepatomegaly, C...	OMIM:308230
Spondylocostal Dysostosis 4, Autosomal Recessive	Myelomeningocele, Ectopic anus, Neurogenic bladder, Hydrocephalus, Spina bifida occulta, Dextroca...	OMIM:613686
Tetrasomy 5P	Failure to thrive, Hydrocephalus	ORPHA:3309
Dehydrated Hereditary Stomatocytosis 2	Increased mean corpuscular hemoglobin concentration, Hemolytic anemia, Hyperbilirubinemia, Jaundi...	OMIM:616689
Cystinosis, Nephropathic	Reduced blood urea nitrogen, Aminoaciduria, Hyperphosphaturia, Decreased plasma carnitine, Hypoph...	OMIM:219800
Gaucher Disease, Type Iiic	Splenomegaly, Mitral stenosis, Hydrocephalus, Pancytopenia, Hepatomegaly, Cardiomegaly, Aortic va...	OMIM:231005
Hereditary Spherocytosis	Increased mean corpuscular hemoglobin concentration, Anemia, Spontaneous hemolytic crises, Restri...	ORPHA:822
Braddock-Carey Syndrome 2	Cleft palate, Thrombocytopenia, Microphthalmia	OMIM:619981
Polysyndactyly With Cardiac Malformation	Renal cyst, Hepatic cysts, Ventricular septal defect, Atrial septal defect	OMIM:263630
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Cleft palate, High palate, Microphthalmia, Oligosacchariduria	ORPHA:163649
Immunodeficiency 87 And Autoimmunity	Atrioventricular canal defect, Necrotizing enterocolitis, Decreased proportion of CD4-positive T ...	OMIM:619573
Bleeding Disorder, Platelet-Type, 17	Impaired epinephrine-induced platelet aggregation, Macrothrombocytopenia, Increased RBC distribut...	OMIM:187900
Sarcoidosis, Susceptibility To, 1	Abnormal pulmonary interstitial morphology, Bronchiectasis, Pericardial effusion, Generalized lym...	OMIM:181000
Pulmonary Capillary Hemangiomatosis	Hemothorax, Pulmonary edema, Pericardial effusion, Pulmonary capillary hemangiomatosis, Diffuse a...	ORPHA:199241
Wiskott-Aldrich Syndrome	Absent microvilli on the surface of peripheral blood lymphocytes, Decreased proportion of CD8-pos...	OMIM:301000
Mend Syndrome	High palate, Hydrocephalus, Elevated 8(9)-cholestenol, Microphthalmia, Abnormal heart morphology,...	ORPHA:401973
Pallister-Hall Syndrome	Atrioventricular canal defect, Ambiguous genitalia, Precocious puberty, Gonadotropin deficiency, ...	ORPHA:672
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Holoprosencephaly, Hydrocephalus, Encephalocele, Agenesis of corpus callosum	OMIM:253800
Microphthalmia, Syndromic 11	Cleft palate, Agenesis of pineal gland, Microphthalmia	OMIM:614402
Spherocytosis, Type 1	Hemolytic anemia, Hyperbilirubinemia, Jaundice, Reticulocytosis, Cholelithiasis, Splenomegaly, Sp...	OMIM:182900
Fraser Syndrome 3	Ureteral agenesis, Hypoplasia of the bladder, Bilateral renal agenesis, Hydrocephalus, Hypoplasia...	OMIM:617667
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Partial agenesis of the corpus callosum, Agenesis of corpus callosum, Colpocephaly	OMIM:620113
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Heinz bodies, Unconjugated hyperbilirubinemia, Hemoglobinuria, Jaundice, Fava bean-induced hemoly...	OMIM:300908
Atelosteogenesis Type I	Abnormal pancreatic duct morphology, Pulmonary hypoplasia, Multiple renal cysts, Cleft palate, Ma...	ORPHA:1190
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Microphthalmia	OMIM:251270
Chromosome 8Q21.11 Deletion Syndrome	High palate, Microphthalmia, Cryptorchidism, Cleft palate, Micropenis	OMIM:614230
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Aminoaciduria, Gastroesophageal reflux, High palate, Hyponatremia, Calcinosis, Hypokalemia, Renal...	OMIM:617913
Cohen Syndrome	Aplasia/Hypoplasia of the tongue, Ventricular septal defect, Mitral valve prolapse, Delayed puber...	ORPHA:193
Peters Plus Syndrome	Ventriculomegaly, Abnormal cardiac septum morphology, Anterior hypopituitarism, Abnormality of th...	ORPHA:709
Temtamy Syndrome	Microphthalmia	ORPHA:1777
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Hemolytic-uremic syndrome, Methylmalonic aciduria, Megaloblastic anemia, Neutropenia, Cystathioni...	OMIM:277400
Junctional Epidermolysis Bullosa With Pyloric Atresia	Congenital pyloric atresia, Renal duplication, Renal dysplasia, Hematuria, Urethral stricture, Ur...	ORPHA:79403
Igg4-Related Submandibular Gland Disease	Sialadenitis, Renal insufficiency, Prostatitis, Retroperitoneal fibrosis, Abnormality of the kidn...	ORPHA:449432
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Congenital hepatic fibrosis, Ambiguous genitalia, Bifid tongue, Ventriculomegaly, Ectopic anus, E...	ORPHA:93271
Thanatophoric Dysplasia, Type I	Hydrocephalus	OMIM:187600
Ritscher-Schinzel Syndrome 3	Atrioventricular canal defect, Microphthalmia, Cryptorchidism	OMIM:619135
Cryptococcosis	Cirrhosis, Nodular pattern on pulmonary HRCT, Lymphoid leukemia, Prostatitis, Hydrocephalus, Pleu...	ORPHA:1546
8Q21.11 Microdeletion Syndrome	High palate, Hypoplasia of penis, Microphthalmia, Cryptorchidism	ORPHA:284160
Mycophenolate Mofetil Embryopathy	Tracheoesophageal fistula, Hydrocephalus, Agenesis of corpus callosum	ORPHA:268249
Joubert Syndrome 35	Renal fibrosis, Recurrent urinary tract infections, Multicystic kidney dysplasia, Hydronephrosis	OMIM:618161
Apert Syndrome	Hydrocephalus, Ventriculomegaly, Agenesis of corpus callosum	ORPHA:87
Ciliary Dyskinesia, Primary, 43	Noncommunicating hydrocephalus	OMIM:618699
Cole-Carpenter Syndrome 2	Hydrocephalus	OMIM:616294
Hyperimmunoglobulinemia D With Periodic Fever	Lymphadenopathy, Intestinal obstruction, Gastrointestinal hemorrhage, Hepatomegaly, Peritonitis	ORPHA:343
7Q11.23 Microduplication Syndrome	High palate, Ventriculomegaly, Ventricular septal defect, Hydrocephalus, Unilateral renal agenesi...	ORPHA:96121
Hereditary Elliptocytosis	Stomatocytosis, Congenital hemolytic anemia, Hemolytic anemia, Elliptocytosis, Hyperbilirubinemia...	ORPHA:288
Bronchial Neuroendocrine Tumor	Abnormal pulmonary interstitial morphology, Increased circulating cortisol level, Increased circu...	ORPHA:97287
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Hemolytic-uremic syndrome, Glomerulopathy, Methylmalonic aciduria, Megaloblastic anemia, Methylma...	ORPHA:79282
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Ventriculomegaly, Agenesis of corpus callosum, Colpocephaly	OMIM:617260
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Atrioventricular canal defect, Ventriculomegaly, Truncus arteriosus, Ventricular septal defect, S...	ORPHA:508498
Hyperparathyroidism, Neonatal Severe	Aminoaciduria, Anemia, Calcinosis, Hyperphosphaturia, Hypophosphatemia, Elevated circulating para...	OMIM:239200
Spondyloenchondrodysplasia	Abnormal lateral ventricle morphology, Ventriculomegaly	ORPHA:1855
Congenital Disorder Of Glycosylation, Type Iq	Microphthalmia, Microcytic anemia, Dysphagia	OMIM:612379
Adams-Oliver Syndrome 5	Patent foramen ovale, Hypersplenism, Pulmonic stenosis, Portal vein thrombosis, Right ventricular...	OMIM:616028
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Multicystic kidney dysplasia, Ventriculomegaly, Decreased testicular size, Anencephaly, Hydroceph...	OMIM:615287
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Exercise-induced hemolysis, Increased mean corpuscular hemoglobin concentration, Hepatitis, Hemog...	OMIM:194380
Holoprosencephaly 9	Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Anophthalmi...	OMIM:610829
Aicardi-Goutieres Syndrome 7	Hypothyroidism, Anemia, Atrophic gastritis, Hemolytic anemia, Recurrent lower respiratory tract i...	OMIM:615846
Joubert Syndrome With Oculorenal Defect	Encephalocele, Aganglionic megacolon, Hydrocephalus, Nephropathy, Renal insufficiency, Abnormalit...	ORPHA:2318
Glycogen Storage Disease Of Heart, Lethal Congenital	Pulmonary edema, Pericardial effusion, Enlarged kidney, Hydrocephalus, Macroglossia, Pleural effu...	OMIM:261740
Oculogastrointestinal Muscular Dystrophy	Abnormal gastric mucosa morphology, Abnormal mitral valve morphology, Abnormality of the gastroin...	ORPHA:1876
16Q24.3 Microdeletion Syndrome	Ventriculomegaly, Colpocephaly	ORPHA:261250
Manitoba Oculotrichoanal Syndrome	Microphthalmia, Anteriorly placed anus, Anophthalmia, Anal stenosis	OMIM:248450
Tetrasomy 9P	Abnormal cardiac septum morphology, Renal dysplasia, Bifid uvula, Pulmonary hypoplasia, Pericardi...	ORPHA:3310
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	High palate, Mitral valve prolapse, Absent nipple, Hydrocephalus, Ureteral triplication, Hydronep...	OMIM:104350
Stevenson-Carey Syndrome	Gastroesophageal reflux, Microphthalmia, Atrial septal defect, Recurrent urinary tract infections	OMIM:611961
Immunodeficiency 32A	Lymphadenitis, Lymphadenopathy	OMIM:614893
Dubowitz Syndrome	Gastroesophageal reflux, High palate, Hypoplasia of the iris, Velopharyngeal insufficiency, Acute...	OMIM:223370
Periodic Fever, Familial, Autosomal Dominant	Pleuritis, Cervical lymphadenopathy, Gastrointestinal hemorrhage, Hepatomegaly, Hepatic amyloidosis	OMIM:142680
Crimean-Congo Hemorrhagic Fever	Hemoperitoneum, Adrenal insufficiency, Pericardial effusion, Elevated circulating creatine kinase...	ORPHA:99827
Cushing Syndrome Due To Ectopic Acth Secretion	Abnormal lymph node morphology, Pituitary corticotropic cell adenoma, Decreased eosinophil count,...	ORPHA:99889
Yunis-Varon Syndrome	Ventricular septal defect, Glossoptosis, Arrhinencephaly, Hydrocephalus, Hypoplastic labia majora...	ORPHA:3472
Myoectodermal Gonadal Dysgenesis Syndrome	Pyloric stenosis, Hypoplastic labia majora, Unilateral renal agenesis, Clitoral hypoplasia, Anal ...	OMIM:618419
Heart And Brain Malformation Syndrome	Gastroesophageal reflux, Ventricular septal defect, Microphthalmia, High, narrow palate, Dandy-Wa...	OMIM:616920
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps	Renal cyst, Renal insufficiency, Hematuria, Elevated circulating creatine kinase concentration	OMIM:611773
Joubert Syndrome	Hydrocephalus, Encephalocele	ORPHA:475
Distal 22Q11.2 Microduplication Syndrome	Webbed neck, High palate, Ventricular septal defect, Hydrocephalus, Macroglossia, Unilateral rena...	ORPHA:261337
Marshall-Smith Syndrome	High palate, Ventriculomegaly, Ventricular septal defect, Aspiration pneumonia, Dysplastic aortic...	OMIM:602535
Acute Monoblastic/Monocytic Leukemia	Central hypothyroidism, Anemia, Lymphocytosis, Hypochromic anemia, Acute monocytic leukemia, Olig...	ORPHA:514
2Q37 Microdeletion Syndrome	Nephroblastoma, Pyloric stenosis, Multicystic kidney dysplasia, Supernumerary nipple	ORPHA:1001
Chromosome 17Q12 Duplication Syndrome	Microphthalmia, Cleft soft palate, Atrial septal defect, Esophageal atresia	OMIM:614526
Granulomatous Disease, Chronic, X-Linked	Lymphadenitis, Liver abscess, Granulomatosis, Pleural effusion, Recurrent pneumonia, Lymphadenopa...	OMIM:306400
Autosomal Recessive Spastic Paraplegia Type 11	Hypothalamic atrophy, Obesity, Overweight, Lateral ventricle dilatation	ORPHA:2822
Cutaneous Mastocytoma	Lymphadenopathy	ORPHA:79455
Osteopetrosis, Autosomal Recessive 7	Hydrocephalus, Lateral ventricle dilatation	OMIM:612301
Wolf-Hirschhorn Syndrome	Gastroesophageal reflux, Precocious puberty, Webbed neck, Ventriculomegaly, Malrotation of small ...	OMIM:194190
Chédiak-Higashi Syndrome	Pericardial effusion, Hepatosplenomegaly, Pleural effusion, Hyponatremia, Thrombocytopenia, Abnor...	ORPHA:167
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Hydrocephalus, Encephalocele	OMIM:224400
X-Linked Dominant Chondrodysplasia Punctata	Abnormal lung morphology, High palate, Microphthalmia, Hydronephrosis	ORPHA:35173
Icf Syndrome	Anemia, Malabsorption, Communicating hydrocephalus, Macroglossia, Lymphopenia, Abnormality of neu...	ORPHA:2268
Pseudoaminopterin Syndrome	Asplenia, Patent foramen ovale, High palate, Hydrocephalus, Horseshoe kidney, Cryptorchidism	ORPHA:221120
Bartsocas-Papas Syndrome 1	Patent foramen ovale, Ambiguous genitalia, Bicornuate uterus, Bilateral cryptorchidism, Absent ex...	OMIM:263650
Osteopathia Striata With Cranial Sclerosis	Gastroesophageal reflux, Multicystic kidney dysplasia, Webbed neck, High palate, Ventricular sept...	OMIM:300373
Cerebral Visual Impairment	Hydrocephalus	ORPHA:447788
Chediak-Higashi Syndrome	Leukopenia, Anemia, Macular hypoplasia, Jaundice, Giant neutrophil granules, Lymphadenopathy, Hem...	OMIM:214500
Combined Oxidative Phosphorylation Defect Type 39	Increased CSF lactate, Lateral ventricle dilatation	ORPHA:565624
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Lymphadenitis, Liver abscess, Granulomatosis, Recurrent pneumonia, Lymphadenopathy, Rectal absces...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Lymphadenitis, Liver abscess, Granulomatosis, Recurrent pneumonia, Lymphadenopathy, Rectal absces...	OMIM:233710
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Anencephaly, Hydrocephalus, Pulmonary hypoplasia, Atrial septal defect, Cleft palate, Micropenis	OMIM:616546
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	T lymphocytopenia, Lymphopenia, Absent peripheral lymph nodes in presence of infection, Impaired ...	OMIM:600802
Okamoto Syndrome	Urinary incontinence, Gastroesophageal reflux, Abnormally large globe, Webbed neck, Ventricular s...	ORPHA:2729
Williams Syndrome	Peptic ulcer, Hypothyroidism, Precocious puberty, Colonic diverticula, Functional abnormality of ...	ORPHA:904
Isotretinoin-Like Syndrome	Gastroesophageal reflux, Conotruncal defect, Bicuspid aortic valve, Hydrocephalus, Lymphopenia, A...	ORPHA:2306
Mucopolysaccharidosis, Type Vi	Mitral stenosis, Dermatan sulfate excretion in urine, Hydrocephalus, Macroglossia, Recurrent uppe...	OMIM:253200
Cockayne Syndrome B	Normal pressure hydrocephalus, Hypoplasia of the iris, Micropenis, Proteinuria, Cryptorchidism, H...	OMIM:133540
Sting-Associated Vasculopathy, Infantile-Onset	Leukopenia, Anemia, Lymphopenia, Follicular hyperplasia, Thrombocytosis, Elevated circulating C-r...	OMIM:615934
Melkersson-Rosenthal Syndrome	Furrowed tongue, Lymphadenopathy, Macroglossia, Oligosacchariduria	ORPHA:2483
Curry-Jones Syndrome	Intestinal malrotation, Microphthalmia, Ventriculomegaly	ORPHA:1553
Supranuclear Palsy, Progressive, 1	Astrocytosis, Gliosis	OMIM:601104
Lipodystrophy, Congenital Generalized, Type 4	Hyperinsulinemia, Pyloric stenosis, Elevated circulating creatine kinase concentration, Hepatic s...	OMIM:613327
Primary Sclerosing Cholangitis	Hepatocellular carcinoma, Cholangiocarcinoma, Hepatosplenomegaly, Pleural effusion, Celiac diseas...	ORPHA:171
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Patent foramen ovale, Abnormally large globe, Cardiomegaly, Webbed neck, Bicuspid aortic valve, M...	OMIM:245600
Pfeiffer Syndrome	Hydrocephalus	OMIM:101600
Cockayne Syndrome	Urinary incontinence, Gastroesophageal reflux, Hyperuricemia, Nephrotic syndrome, Neurogenic blad...	ORPHA:191
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Lymphadenitis, Liver abscess, Granulomatosis, Recurrent pneumonia, Lymphadenopathy, Rectal absces...	OMIM:233690
Basal Cell Nevus Syndrome 1	Hamartomatous stomach polyps, Cardiac rhabdomyoma, Spina bifida, Hydrocephalus, Cardiac fibroma, ...	OMIM:109400
Bardet-Biedl Syndrome 12	Hypogonadism, Hydroureter, Hydrometrocolpos, Cystic renal dysplasia, Vaginal atresia, Abdominal m...	OMIM:615989
Marburg Hemorrhagic Fever	Leukopenia, Elevated circulating creatinine concentration, Abnormality of the gastrointestinal tr...	ORPHA:99826
Fontaine Progeroid Syndrome	Gastroesophageal reflux, Pneumothorax, Recurrent aspiration pneumonia, High, narrow palate, Bicus...	OMIM:612289
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Hydrocephalus, Hypoplastic labia majora, Atrial septal defect, Vaginal atresia, Abnormal renal mo...	OMIM:207410
Alexander Disease	Failure to thrive, Hydrocephalus, Aqueductal stenosis, Agenesis of corpus callosum	ORPHA:58
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Dilated third ventricle, Dysplastic corpus callosum, Large for gestational age, Lateral ventricle...	ORPHA:544488
Kohlschutter-Tonz Syndrome-Like	Decreased body weight, Ventriculomegaly, Lateral ventricle dilatation, Overweight, Obesity	OMIM:619229
Costello Syndrome	Lymphangiectasis, Webbed neck, Ventriculomegaly, High palate, Ventricular septal defect, Pneumoth...	OMIM:218040
Aicardi Syndrome	Gastroesophageal reflux, Precocious puberty, Ventriculomegaly, Malabsorption, Hepatoblastoma, Int...	ORPHA:50
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Irregular menstruation, Gastroesophageal reflux, Urinary incontinence, Hydrocephalus, Uterine lei...	OMIM:616482
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Partial agenesis of the corpus callosum, Normal pressure hydrocephalus, Lateral ventricle dilatation	ORPHA:300570
Mend Syndrome	High palate, Crossed fused renal ectopia, Macular hypoplasia, Hydrocephalus, Cryptorchidism, Aort...	OMIM:300960
Lipodystrophy, Congenital Generalized, Type 2	Decreased fertility, Decreased fertility in females, Cirrhosis, Hyperinsulinemia, Insulin-resista...	OMIM:269700
Temtamy Syndrome	Microphthalmia, Ventriculomegaly	OMIM:218340
Solitary Median Maxillary Central Incisor	Decreased response to growth hormone stimulation test, Anophthalmia, Anterior hypopituitarism, Ho...	OMIM:147250
Koolen-De Vries Syndrome Due To A Point Mutation	Hypothyroidism, Precocious puberty, Ventriculomegaly, Pineal cyst, Primary adrenal insufficiency,...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Hypothyroidism, Precocious puberty, Ventriculomegaly, Pineal cyst, Primary adrenal insufficiency,...	ORPHA:363958
Crouzon Syndrome	Hydrocephalus	OMIM:123500
Primary Sjögren Syndrome	Biliary cirrhosis, Chronic active hepatitis, Glomerulonephritis, Parotitis, Lymphocytic interstit...	ORPHA:289390
Chondrodysplasia Punctata 2, X-Linked Dominant	Ventriculomegaly, Elevated 8(9)-cholestenol, Microphthalmia, Elevated 8-dehydrocholesterol, Dandy...	OMIM:302960
Lissencephaly Type 1 Due To Doublecortin Gene Mutation	Lateral ventricle dilatation	ORPHA:2148
2Q31.1 Microdeletion Syndrome	Ventriculomegaly, Ventricular septal defect, Atrial septal defect, Microphthalmia, Cryptorchidism...	ORPHA:251014
Middle Ear Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy, Carcinoid tumor, Neuroendocrine neoplasm	ORPHA:100084
Aicardi Syndrome	Dilated third ventricle, Precocious puberty, Lateral ventricle dilatation, Spina bifida, Choroid ...	OMIM:304050
Genitopatellar Syndrome	Hypothyroidism, Multicystic kidney dysplasia, Colpocephaly, Malrotation of small bowel, Enlarged ...	OMIM:606170
Wars2-Related Combined Oxidative Phosphorylation Defect	Dilated fourth ventricle, Ventriculomegaly, Lateral ventricle dilatation	ORPHA:572798
Polycystic Liver Disease 4 With Or Without Kidney Cysts	Renal cyst, Hepatic cysts	OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts	Renal cyst, Hepatic cysts	OMIM:617874
Cerebrooculonasal Syndrome	Encephalocele, Ventriculomegaly, Narrow palate, High palate, Anophthalmia, Hydrocephalus, Optic n...	OMIM:605627
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Cachexia, Hydrocephalus	ORPHA:220295
Chromosome 13Q14 Deletion Syndrome	Patent foramen ovale, High palate, Ventricular septal defect, Supernumerary nipple, Holoprosencep...	OMIM:613884
Oculocerebral Hypopigmentation Syndrome, Preus Type	Hydrocephalus	ORPHA:2720
Steinfeld Syndrome	Absent gallbladder, Unilateral renal dysplasia, Bifid uvula, Median cleft lip and palate, Holopro...	OMIM:184705
Carney Triad	Anemia, Paraganglioma, Pheochromocytoma, Lymphadenopathy, Gastrointestinal hemorrhage, Mediastina...	ORPHA:139411
Postaxial Acrofacial Dysostosis	Midgut malrotation, Abnormality of the kidney, Pyloric stenosis, Supernumerary nipple, Cryptorchi...	OMIM:263750
Trichothiodystrophy 1, Photosensitive	Malabsorption, Microphthalmia, Intestinal obstruction, Hypogonadism	OMIM:601675
Autosomal Recessive Robinow Syndrome	Multicystic kidney dysplasia, Bifid tongue, Ventricular septal defect, Ectopic anus, Recurrent re...	ORPHA:1507
Distal Monosomy 15Q	Mitral atresia, Multicystic kidney dysplasia, Bifid tongue, Double outlet right ventricle with do...	ORPHA:1596
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Hyperbilirubinemia, Erythroid hyperplasia, Reticulocytosis, Macrocytic dyseryth...	OMIM:224120
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Ventriculomegaly, Microphallus, Unilateral renal agenesis, Lobar holoprosencephaly, Duodenal atre...	ORPHA:468631
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Communicating hydrocephalus	ORPHA:1064
Gaisböck Syndrome	Increased mean corpuscular hemoglobin concentration, Peptic ulcer, Hyperuricemia, Increased red b...	ORPHA:90041
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type	Choroid plexus cyst, Lateral ventricle dilatation	ORPHA:293725
Reynolds Syndrome	Abnormal gastric mucosa morphology, Gastroesophageal reflux, Cirrhosis, Jaundice, Xerostomia, Hep...	ORPHA:779
Farber Disease	Hepatic fibrosis, Anemia, Nodular pattern on pulmonary HRCT, Hepatosplenomegaly, Lymphadenopathy,...	ORPHA:333
Renal Coloboma Syndrome	Vesicoureteral reflux, Multicystic kidney dysplasia, Renal dysplasia, Renal hypoplasia, Renal ins...	ORPHA:1475
Autosomal Recessive Malignant Osteopetrosis	Anemia, Hypophosphatemia, Hydrocephalus, Lymphadenopathy, Abnormal pulmonary valve morphology, Pu...	ORPHA:667
Gaucher Disease Type 3	Mitral valve calcification, Anemia, Abnormal pulmonary interstitial morphology, Pericardial effus...	ORPHA:77261
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Nephroblastoma, Spinal dysraphism, Webbed neck, Renal hypoplasia, Splenomegaly	OMIM:612918
Arachnoid Cyst	Holoprosencephaly, Hydrocephalus, Enlarged fossa interpeduncularis, Encephalocele	ORPHA:2356
Spondyloenchondrodysplasia With Immune Dysregulation	Hypothyroidism, T lymphocytopenia, Recurrent respiratory infections, Recurrent sinusitis, Lymphop...	OMIM:607944
Digeorge Syndrome	Hypothyroidism, Hypoplasia of the thymus, Truncus arteriosus, Renal dysplasia, Bifid uvula, Recur...	OMIM:188400
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Aganglionic megacolon, Hydrocephalus, Hydrocele testis, Ventriculomegaly	OMIM:613603
Pfeiffer Syndrome Type 2	Hydrocephalus, Aqueductal stenosis	ORPHA:93259
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Microphthalmia, Cleft palate, Supernumerary nipple	OMIM:620098
Idiopathic Hypereosinophilic Syndrome	Generalized lymphadenopathy, Hepatosplenomegaly, Pleural effusion, Eosinophilia, Dysphagia, Myelo...	ORPHA:3260
Frontorhiny	Diabetes insipidus, Encephalocele, Cranium bifidum occultum, Bifid tongue, Basal encephalocele, H...	ORPHA:391474
Absent Radius-Anogenital Anomalies Syndrome	Hydrocephalus	ORPHA:3016
Peroxisome Biogenesis Disorder 4A (Zellweger)	Renal cyst, Increased circulating very long-chain fatty acid concentration, Hepatomegaly	OMIM:614862
Mowat-Wilson Syndrome	Ventriculomegaly, Ventricular septal defect, Bifid scrotum, Abnormality of the kidney, Pyloric st...	OMIM:235730
Dural Sinus Malformation	Hydrocephalus, Myelopathy	ORPHA:97339
Glutaryl-Coa Dehydrogenase Deficiency	Subependymal nodules, Communicating hydrocephalus, Ventriculomegaly	ORPHA:25
Focal Dermal Hypoplasia	Bifid ureter, Myelomeningocele, Anophthalmia, Labial hypoplasia, Hydrocephalus, Supernumerary nip...	OMIM:305600
Microphthalmia With Limb Anomalies	High palate, Arrhinencephaly, Hydrocephalus, True anophthalmia, Horseshoe kidney, Microphthalmia,...	ORPHA:1106
Robinow Syndrome	Pulmonary valve atresia, Multicystic kidney dysplasia, Bifid tongue, Ventricular septal defect, E...	ORPHA:97360
Bosma Arhinia Microphthalmia Syndrome	Primary amenorrhea, High palate, Hypoplastic labia majora, Hypospadias, Microphthalmia, Cryptorch...	OMIM:603457
Lipodystrophy, Congenital Generalized, Type 1	Decreased fertility in females, Cirrhosis, Hyperinsulinemia, Insulin-resistant diabetes mellitus ...	OMIM:608594
Neuroendocrine Neoplasm Of Appendix	Ileal adenocarcinoma, Midgut malrotation, Mechanical ileus, Adrenocorticotropic hormone excess, A...	ORPHA:100079
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Cleft palate, Abnormal heart morphology, Microphthalmia, Renal dysplasia	OMIM:618571
Spherocytosis, Type 4	Hemolytic anemia, Hyperbilirubinemia, Jaundice, Reticulocytosis, Splenomegaly, Spherocytosis	OMIM:612653
Lhermitte-Duclos Disease	Hydrocephalus	ORPHA:65285
15Q Overgrowth Syndrome	Ureterovesical stenosis, Nephroblastoma, High palate, High, narrow palate, Hydrocephalus, Bifid u...	ORPHA:314585
Frontonasal Dysplasia 3	Cleft palate, Microphthalmia	OMIM:613456
Adams-Oliver Syndrome 1	Imperforate hymen, Encephalocele, Ventriculomegaly, Ventricular septal defect, Bicuspid aortic va...	OMIM:100300
Renpenning Syndrome 1	High palate, Ventricular septal defect, Decreased testicular size, Phimosis, Anal atresia, Atrial...	OMIM:309500
Joubert Syndrome 1	Hepatic fibrosis, Macroglossia, Renal cyst, Nephropathy, Protruding tongue, Occipital myelomening...	OMIM:213300
Skin Creases, Congenital Symmetric Circumferential, 1	High palate, Microphthalmia, Cleft palate, Hypoplastic nipples, Dandy-Walker malformation	OMIM:156610
Lethal Omphalocele-Cleft Palate Syndrome	Hydrocephalus	ORPHA:2736
Aicardi-Goutieres Syndrome 9	Failure to thrive, Weight loss, Lateral ventricle dilatation	OMIM:619487
X-Linked Intellectual Disability, Snyder Type	Webbed neck, High palate, Ectopic kidney, Testicular atrophy, Hypospadias, Abnormality of the Ley...	ORPHA:3063
Teebi-Shaltout Syndrome	Ventricular septal defect, Ureteral stenosis, Horseshoe kidney, Microphthalmia, Aortic valve sten...	OMIM:272950
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Hydrocephalus	OMIM:618590
Nk-Cell Enteropathy	Abnormal gastric mucosa morphology, Gastroesophageal reflux, Colonic diverticula, Duodenal ulcer,...	ORPHA:263665
Cerebrocostomandibular Syndrome	Gastroesophageal reflux, Webbed neck, Cleft soft palate, High palate, Ventricular septal defect, ...	OMIM:117650
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Hydrocephalus, Ventriculomegaly, Agenesis of corpus callosum	ORPHA:457284
Spherocytosis, Type 2	Hemolytic anemia, Hyperbilirubinemia, Jaundice, Reticulocytosis, Splenomegaly, Acanthocytosis, Sp...	OMIM:616649
Adenocarcinoma Of The Anal Canal	Neoplasm of the rectum, Neoplasm of the liver, Lymphadenopathy, Intestinal bleeding, Anal canal a...	ORPHA:424016
Hyper-Igd Syndrome	Lymphadenitis, Elevated urine mevalonic acid level, Renal angiomyolipoma, Neutrophilia, Hepatospl...	OMIM:260920
Posterior Meningocele	Meningocele, Neural tube defect, Occipital meningocele, Hydrocephalus, Lipomyelomeningocele	ORPHA:268810
Curry-Jones Syndrome	Ventriculomegaly, Lipomyelomeningocele, Intestinal malrotation, Microphthalmia, Occipital meningo...	OMIM:601707
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Microphthalmia, Anteriorly placed anus, Anal atresia, Abnormal cardiac septum morphology	ORPHA:1352
Marfanoid-Progeroid-Lipodystrophy Syndrome	Hydrocephalus, Lateral ventricular asymmetry	OMIM:616914
Aymé-Gripp Syndrome	Ventriculomegaly, Pericardial effusion, Hydrocephalus, Pericarditis, Cryptorchidism, Cleft palate...	ORPHA:1272
Shprintzen-Goldberg Craniosynostosis Syndrome	Gastroesophageal reflux, High palate, Narrow palate, Mitral valve prolapse, Hydrocephalus, Crypto...	OMIM:182212
Hallermann-Streiff Syndrome	High palate, Narrow palate, Spina bifida, Recurrent pneumonia, Microphthalmia, Cryptorchidism, Re...	OMIM:234100
Capillary Malformation-Arteriovenous Malformation	Neurogenic bladder, Hydrocephalus, Chylothorax, Abnormal heart morphology, Abnormality of the lym...	ORPHA:137667
Monosomy 9P	Ambiguous genitalia, Webbed neck, High palate, Hypospadias, Ureteropelvic junction obstruction, M...	ORPHA:261112
Neuroendocrine Tumor Of The Colon	Increased serum serotonin, Atypical pulmonary carcinoid tumor, Carcinoid tumor, Abnormal pulmonar...	ORPHA:100080
Idiopathic Uveal Effusion Syndrome	Microphthalmia, Increased CSF protein concentration	ORPHA:209956
Proteus Syndrome	Macroorchidism, Diabetes insipidus, Neoplasm of the thymus, Enlarged polycystic ovaries, Neoplasm...	ORPHA:744
Frontofacionasal Dysplasia	Cleft palate, Encephalocele, Microphthalmia	ORPHA:1791
Proteasome-Associated Autoinflammatory Syndrome 3	Anemia, Lymphopenia, Lymphadenopathy, Hepatomegaly, Thrombocytopenia, Hypertriglyceridemia, Splen...	OMIM:617591
Overhydrated Hereditary Stomatocytosis	Stomatocytosis, Hemolytic anemia, Hyperbilirubinemia, Jaundice, Reticulocytosis, Hepatomegaly, Sp...	OMIM:185000
Proteasome-Associated Autoinflammatory Syndrome 4	Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly, Hepatomegaly	OMIM:619183
Blepharophimosis, Ptosis, And Epicanthus Inversus	Irregular menstruation, High palate, Premature ovarian insufficiency, Increased circulating gonad...	OMIM:110100
Distal Monosomy 10Q	Spina bifida occulta, Failure to thrive, Lateral ventricle dilatation	ORPHA:96148
Acro-Renal-Ocular Syndrome	Vesicoureteral reflux, Crossed fused renal ectopia, Renal hypoplasia/aplasia, Renal malrotation, ...	ORPHA:959
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Asplenia, Lateral ventricle dilatation, Bifid uvula, Abnormality of the pulmonary artery, Pulmona...	ORPHA:261537
Craniopharyngioma	Obesity, Hydrocephalus, Abnormal hypothalamus morphology	ORPHA:54595
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Aqueductal stenosis, Hydrocephalus, Failure to thrive, Partial agenesis of the corpus callosum, A...	OMIM:619512
Cog5-Cdg	Lateral ventricle dilatation	ORPHA:263487
Bor Syndrome	Vesicoureteral reflux, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Ureteropelvic junc...	ORPHA:107
3Q29 Microduplication Syndrome	High palate, Ventricular septal defect, Ectopic anus, Microphthalmia, Cleft palate, Aniridia	ORPHA:251038
Holoprosencephaly 7	Hydrocephalus, Semilobar holoprosencephaly, Lobar holoprosencephaly, Alobar holoprosencephaly, Ho...	OMIM:610828
Monosomy 9Q22.3	Hydrocephalus, Large for gestational age, Ventriculomegaly	ORPHA:77301
Mowat-Wilson Syndrome	Asplenia, Ventriculomegaly, Abnormal cardiac septum morphology, Bifid uvula, Pulmonary artery sli...	ORPHA:2152
Klatskin Tumor	Extrahepatic cholestasis, Jaundice, Cholangiocarcinoma, Lymphadenopathy, Hepatomegaly	ORPHA:99978
Lowe Oculocerebrorenal Syndrome	Hypercholesterolemia, Aminoaciduria, Elevated maternal serum alpha-fetoprotein, Ventriculomegaly,...	OMIM:309000
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Secondary amenorrhea, Premature ovarian insufficiency, Testicular atrophy, Hypergonadotropic hypo...	OMIM:157640
Frontonasal Dysplasia 2	Bilateral cryptorchidism, Encephalocele, Microphthalmia	OMIM:613451
Branchiooculofacial Syndrome	Gastroesophageal reflux, Duplication of internal organs, Ectopic thymus tissue, Anophthalmia, Pyl...	OMIM:113620
Hereditary Cryohydrocytosis With Reduced Stomatin	Stomatocytosis, Hypoglycorrhachia, Spontaneous hemolytic crises, Jaundice, Communicating hydrocep...	ORPHA:168577
Lenz-Majewski Hyperostotic Dwarfism	Hypogonadism, External genital hypoplasia, Hydrocephalus, Bifid uvula, Submucous cleft hard palat...	ORPHA:2658
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Microphthalmia	OMIM:152950
Iniencephaly	Spinal dysraphism, Encephalocele, Myelomeningocele, Spina bifida, Anencephaly, Hydrocephalus, Hol...	ORPHA:63259
Cockayne Syndrome A	Irregular menstruation, Ventriculomegaly, Hypogonadism, Normal pressure hydrocephalus, Micropenis...	OMIM:216400
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	High palate, Bifid scrotum, Clitoral hypoplasia, Atrial septal defect, Total anomalous pulmonary ...	OMIM:609945
Cornelia De Lange Syndrome	Ventriculomegaly, Hypoplastic labia majora, Primary amenorrhea, Cleft palate, Phthisis bulbi, Ves...	ORPHA:199
Neuroendocrine Tumor Of The Rectum	Increased serum serotonin, Atypical pulmonary carcinoid tumor, Carcinoid tumor, Abnormal pulmonar...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Increased serum serotonin, Atypical pulmonary carcinoid tumor, Carcinoid tumor, Abnormal pulmonar...	ORPHA:100082
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Ethmoidal encephalocele, Optic nerve hypoplasia, Bilateral microphthalmos, Cleft palate, High, na...	OMIM:607597
Alagille Syndrome 1	Renal dysplasia, Hepatocellular carcinoma, Peripheral pulmonary artery stenosis, Hypercholesterol...	OMIM:118450
Rothmund-Thomson Syndrome, Type 2	High palate, Hypogonadism, Anteriorly placed anus, Cryptorchidism, Microphthalmia, Annular pancreas	OMIM:268400
Proboscis Lateralis	Ureteral agenesis, High palate, Ventriculomegaly, Anophthalmia, Ventricular septal defect, Extern...	ORPHA:141099
Microphthalmia, Syndromic 2	Hypothyroidism, Double outlet right ventricle, Anophthalmia, Ventricular septal defect, Adrenal i...	OMIM:300166
Raine Syndrome	High palate, Hydroureter, Hypophosphatemia, Hydrocephalus, Pulmonary hypoplasia, Protruding tongu...	OMIM:259775
Cerebrocostomandibular Syndrome	Meningocele, Multicystic kidney dysplasia, Webbed neck, Myelomeningocele, Ventricular septal defe...	ORPHA:1393
Trichothiodystrophy	Increased mean corpuscular hemoglobin concentration, Anemia, Ventriculomegaly, Ventricular septal...	ORPHA:33364
Chromosome 1P36 Deletion Syndrome, Distal	Hypothyroidism, Abnormality of the anus, Lateral ventricle dilatation, Bifid uvula, Dysphagia, Pa...	OMIM:607872
Skin Creases, Congenital Symmetric Circumferential, 2	Ventriculomegaly, Hypospadias, Ureterocele, Microphthalmia, Cryptorchidism, Cleft palate, Small s...	OMIM:616734
Distal Renal Tubular Acidosis	Aminoaciduria, Proximal tubulopathy, Hypocitraturia, Hemolytic anemia, Hypermagnesiuria, Hyperpho...	ORPHA:18
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Hypothyroidism, Premature thelarche, Ventriculomegaly, Cleft soft palate, Breast aplasia, Dysphag...	ORPHA:268261
Joubert Syndrome 21	Anophthalmia, Pulmonary hypoplasia, Renal cyst, Occipital encephalocele, Hyperechogenic kidneys	OMIM:615636
Von Hippel-Lindau Disease	Pancreatic cysts, Elevated urinary catecholamines, Pancreatic endocrine tumor, Renal cell carcino...	ORPHA:892
Myoclonic-Astatic Epilepsy	Microphthalmia	ORPHA:1942
Noonan Syndrome 14	Lateral ventricle dilatation	OMIM:619745
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects	Failure to thrive, Colpocephaly	OMIM:620083
Xeroderma Pigmentosum, Complementation Group B	Microphthalmia, Ventriculomegaly, Hypogonadism	OMIM:610651
Proteasome-Associated Autoinflammatory Syndrome 1	Irregular menstruation, Elevated circulating thyroid-stimulating hormone concentration, Macroglos...	OMIM:256040
Neuroendocrine Tumor Of Stomach	Increased circulating ACTH level, Atypical pulmonary carcinoid tumor, Increased serum serotonin, ...	ORPHA:100075
Laurin-Sandrow Syndrome	Hydrocephalus	ORPHA:2378
Frontometaphyseal Dysplasia 2	Gastroesophageal reflux, Patent foramen ovale, Webbed neck, High palate, Neurogenic bladder, Bicu...	OMIM:617137
Aregenerative Anemia	Reticulocytopenia, Abnormal proportion of CD8-positive T cells, Erythroid hypoplasia, Pancytopeni...	ORPHA:101096
Autosomal Recessive Cutis Laxa Type 1	Vesicoureteral reflux, Dilatation of the ventricular cavity, Pneumothorax, Recurrent urinary trac...	ORPHA:90349
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Lateral ventricle dilatation	ORPHA:457279
Fetal Alcohol Syndrome	Cleft palate, Microphthalmia, Atrial septal defect	ORPHA:1915
Bartsocas-Papas Syndrome 2	Microphthalmia, Bilateral cleft lip and palate	OMIM:619339
Cole-Carpenter Syndrome	Communicating hydrocephalus	ORPHA:2050
Neurofibromatosis, Type I	Astrocytoma, Aqueductal stenosis, Spina bifida, Hydrocephalus, Optic nerve glioma	OMIM:162200
Pancreatoblastoma	Abnormal lymph node morphology, Jaundice, Pancreatic calcification, Elevated maternal serum alpha...	ORPHA:677
Full Nf2-Related Schwannomatosis	Astrocytoma, Ependymoma, Hydrocephalus, Myelopathy, Glioma	ORPHA:637
Neu-Laxova Syndrome 1	Patent foramen ovale, Ventriculomegaly, Ventricular septal defect, Spina bifida, Renal agenesis, ...	OMIM:256520
Chronic Visceral Acid Sphingomyelinase Deficiency	Cirrhosis, Abnormal circulating lipid concentration, Abnormal pulmonary interstitial morphology, ...	ORPHA:77293
Holoprosencephaly 13, X-Linked	Alobar holoprosencephaly, Semilobar holoprosencephaly, Agenesis of corpus callosum, Colpocephaly	OMIM:301043
Hyperlipoproteinemia, Type Id	Recurrent pancreatitis, Splenomegaly, Decreased LDL cholesterol concentration, Hyperlipoproteinem...	OMIM:615947
Shprintzen-Goldberg Syndrome	Gastroesophageal reflux, Ventriculomegaly, Mitral valve prolapse, Communicating hydrocephalus, Ab...	ORPHA:2462
Neurocardiofaciodigital Syndrome	Small for gestational age, Failure to thrive, Dilated fourth ventricle, Lateral ventricle dilatation	OMIM:619869
Spondyloepimetaphyseal Dysplasia, Krakow Type	High palate, Hydrocephalus, Atrial septal defect, Decreased serum insulin-like growth factor 1, A...	OMIM:618162
Microcephaly-Micromelia Syndrome	Microphthalmia, Cleft palate, Pulmonary hypoplasia, Aqueductal stenosis	OMIM:251230
Trisomy 10P	Absent gallbladder, Gastroesophageal reflux, High palate, Abnormality of the kidney, Multiple ren...	ORPHA:171929
Congenital Primary Aphakia	Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia	ORPHA:83461
Bainbridge-Ropers Syndrome	Failure to thrive, Lateral ventricle dilatation	OMIM:615485
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Asplenia, Lateral ventricle dilatation, Bifid uvula, Abnormality of the pulmonary artery, Duplica...	ORPHA:261552
Coloboma, Ocular, Autosomal Dominant	Microphthalmia, Vesicoureteral reflux, Optic nerve aplasia, Ventriculomegaly	OMIM:120200
Achondroplasia	Hydrocephalus	OMIM:100800
Acrofacial Dysostosis 1, Nager Type	Aqueductal stenosis, Ventricular septal defect, Bicornuate uterus, Aganglionic megacolon, Velopha...	OMIM:154400
Sacral Defect With Anterior Meningocele	Meningocele, Myelomeningocele, Hydrocephalus, Myeloschisis, Dermal sinus tract	OMIM:600145
Steinert Myotonic Dystrophy	Impotence, Secondary hyperparathyroidism, Ovarian carcinoma, Hypercholesterolemia, Non-medullary ...	ORPHA:273
Microphthalmia, Syndromic 1	Webbed neck, High palate, Anophthalmia, High, narrow palate, Renal hypoplasia/aplasia, Hydrourete...	OMIM:309800
Wiedemann-Rautenstrauch Syndrome	Thin skin, Hypoplasia of the thymus, Increased serum testosterone level, Recurrent respiratory in...	OMIM:264090
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Thin skin, High palate, Repeated pneumothoraces, Mitral valve prolapse, Hydrocephalus, Pulmonary ...	ORPHA:536467
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Hydrocephalus	OMIM:616007
Riddle Syndrome	Bronchitis, Abnormal pulmonary interstitial morphology, Enuresis nocturna, Generalized lymphadeno...	ORPHA:420741
Mohr Syndrome	Hydrocephalus	OMIM:252100
Peters-Plus Syndrome	Hydronephrosis, Webbed neck, Bilobate gallbladder, Ventriculomegaly, Hypoplasia of the vagina, Ve...	OMIM:261540
Meningioma	Enlarged pituitary gland, Impotence, Decreased circulating cortisol level, Secondary growth hormo...	ORPHA:2495
Limb Body Wall Complex	Encephalocele, Myelomeningocele, Abnormality of the liver, Ventricular septal defect, Spina bifid...	ORPHA:2369
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Neutrophilia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Leukocytosi...	OMIM:617099
Medulloblastoma	Hydrocephalus	ORPHA:616
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Microphthalmia, Optic nerve hypoplasia	OMIM:614833
Radio-Renal Syndrome	Multicystic kidney dysplasia, Renal dysplasia, Renal hypoplasia/aplasia, Renal agenesis, Pleural ...	ORPHA:3015
Hallermann-Streiff Syndrome	Hypothyroidism, Microphthalmia, Cryptorchidism, Abdominal situs inversus, High, narrow palate, Gl...	ORPHA:2108
Nance-Horan Syndrome	Microphthalmia	ORPHA:627
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia	OMIM:167730
Trichothiodystrophy 4, Nonphotosensitive	Decreased fertility, Microphthalmia, Ventricular septal defect	OMIM:234050
Lymphedema-Distichiasis Syndrome	Webbed neck, Ventricular septal defect, Microphthalmia, Chylothorax, Cleft palate, Tetralogy of F...	OMIM:153400
Microphthalmia, Syndromic 6	Female hypogonadism, Hypothyroidism, High palate, Ventriculomegaly, Anophthalmia, Anterior hypopi...	OMIM:607932
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	High palate, Ventriculomegaly, Ventricular septal defect, Bifid scrotum, Ankyloglossia, Hyperbili...	OMIM:619475
Branchio-Oculo-Facial Syndrome	Multicystic kidney dysplasia, High palate, Renal agenesis, Hydronephrosis	ORPHA:1297
Kawasaki Disease	Abnormal pulmonary interstitial morphology, Hepatitis, Jaundice, Double outlet right ventricle wi...	ORPHA:2331
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia	OMIM:611038
Sturge-Weber Syndrome	Hydrocephalus	ORPHA:3205
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Microphthalmia, Hypospadias, Precocious puberty, Anophthalmia	OMIM:615877
Wiedemann-Rautenstrauch Syndrome	Dilatation of renal calices, Hepatic steatosis, Submucous cleft soft palate, Increased serum estr...	ORPHA:3455
Thauvin-Robinet-Faivre Syndrome	Nephroblastoma, Bifid ureter, Ventricular septal defect, Renal dysplasia, Renal malrotation, Mitr...	OMIM:617107
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Pancreatic hypoplasia, Biliary hyperplasia, B lymphocytopenia, Perimembranous ventricular septal ...	ORPHA:83617
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Absent gallbladder, Renal hypoplasia/aplasia, Holoprosencephaly, Tetralogy of Fallot, Abnormal lo...	ORPHA:3186
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Ventriculomegaly, Lateral ventricle dilatation	OMIM:619479
Peroxisome Biogenesis Disorder 1B	Hepatic fibrosis, Cirrhosis, Renal cyst, Hepatomegaly, Hyperoxaluria	OMIM:601539
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Communicating hydrocephalus, Large for gestational age, Ventriculomegaly	OMIM:617011
Incontinentia Pigmenti	Breast aplasia, Supernumerary nipple, Hypoplasia of the fovea, Microphthalmia, Eosinophilia, Leuk...	OMIM:308300
Campomelic Dysplasia	Spinal dysraphism, High palate, Sex reversal, Spina bifida, Hydrocephalus, Submucous cleft hard p...	OMIM:114290
Weaver Syndrome	Ventriculomegaly, Lateral ventricle dilatation	OMIM:277590
Orofaciodigital Syndrome Type 1	Pancreatic cysts, Lobulated tongue, Multicystic kidney dysplasia, Abnormality of the pancreas, Hi...	ORPHA:2750
Immunodeficiency 96	Increased mean corpuscular volume, Multicystic kidney dysplasia, Recurrent lower respiratory trac...	OMIM:619774
Phace Association	Ventricular septal defect, Optic nerve hypoplasia, Microphthalmia, Lingual thyroid, Congenital hy...	OMIM:606519
6Q Terminal Deletion Syndrome	Failure to thrive, Obesity, Colpocephaly	ORPHA:75857
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Renal cyst, Horseshoe kidney, Ventricular septal defect	OMIM:250410
Semilobar Holoprosencephaly	Central hypothyroidism, Gastroesophageal reflux, Morphological abnormality of the gastrointestina...	ORPHA:220386
Alobar Holoprosencephaly	Central hypothyroidism, Gastroesophageal reflux, Morphological abnormality of the gastrointestina...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Central hypothyroidism, Gastroesophageal reflux, Morphological abnormality of the gastrointestina...	ORPHA:93926
Lobar Holoprosencephaly	Central hypothyroidism, Gastroesophageal reflux, Morphological abnormality of the gastrointestina...	ORPHA:93924
Keppen-Lubinsky Syndrome	Failure to thrive, Lateral ventricle dilatation	OMIM:614098
Mucopolysaccharidosis Type 2	Abnormal mitral valve morphology, Enlarged tonsils, Communicating hydrocephalus, Macroglossia, Ab...	ORPHA:580
Pituitary Deficiency Due To Rathke Cleft Cysts	Enlarged pituitary gland, Diabetes insipidus, Increased circulating prolactin concentration, Ante...	ORPHA:91350
Nasopalpebral Lipoma-Coloboma Syndrome	Bilateral microphthalmos, Recurrent upper respiratory tract infections, Microphthalmia	ORPHA:2399
Viss Syndrome	Hypothyroidism, Bifid tongue, Cleft soft palate, Pneumothorax, Bifid uvula, Submucous cleft soft ...	OMIM:619472
Oculotrichoanal Syndrome	Microphthalmia, Anteriorly placed anus, Anophthalmia, Anal stenosis	ORPHA:2717
Tangier Disease	Anemia, Coronary artery stenosis, Left ventricular hypertrophy, Hepatosplenomegaly, Hypocholester...	ORPHA:31150
Cerebrooculofacioskeletal Syndrome 4	Bilateral microphthalmos, Abnormal heart morphology	OMIM:610758
Anterior Segment Dysgenesis 5	Hypoplasia of the iris, Hypoplasia of the fovea, Rieger anomaly, Microphthalmia	OMIM:604229
Microphthalmia, Isolated 8	Microphthalmia, True anophthalmia, Anophthalmia, Optic nerve hypoplasia	OMIM:615113
Pierson Syndrome	Rieger anomaly, Hypoplasia of the ciliary body, Nephrotic syndrome, Stage 5 chronic kidney diseas...	OMIM:609049
Alpha-Mannosidosis, Infantile Form	Recurrent urinary tract infections, Communicating hydrocephalus, Macroglossia, Pancytopenia, Hepa...	ORPHA:309282
Igg4-Related Dacryoadenitis And Sialadenitis	Tubulointerstitial nephritis, Retroperitoneal fibrosis, Nodular goiter, Thyroiditis, Abnormality ...	ORPHA:79078
Otodental Syndrome	Microphthalmia, Lens coloboma	ORPHA:2791
Premature Aging Syndrome, Penttinen Type	Thin skin, Elevated circulating thyroid-stimulating hormone concentration, Microphthalmia	OMIM:601812
Gallbladder Neuroendocrine Tumor	Intermittent jaundice, Extrahepatic cholestasis, Neuroendocrine neoplasm, Biliary tract neoplasm,...	ORPHA:100086
Neurofibromatosis Type 1	Precocious puberty, Neoplasm of the gastrointestinal tract, Abnormality of the upper urinary trac...	ORPHA:636
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Nephroblastoma, Chronic neutropenia, Multicystic kidney dysplasia, Bifid ureter, Abnormal right v...	ORPHA:500095
Blau Syndrome	Anemia, Abnormality of the liver, Stage 5 chronic kidney disease, Pericarditis, Clear cell renal ...	ORPHA:90340
Genitourinary And/Or Brain Malformation Syndrome	Holoprosencephaly, Dysplastic corpus callosum, Agenesis of corpus callosum, Colpocephaly	OMIM:618820
African Trypanosomiasis	Urinary incontinence, Myocarditis, Ventriculomegaly, Impotence, Abnormality of circulating cortis...	ORPHA:3385
8Q24.3 Microdeletion Syndrome	Vesicoureteral reflux, Gastroesophageal reflux, Atrioventricular canal defect, Dysphagia, Ventric...	ORPHA:508488
Gabriele-De Vries Syndrome	Lateral ventricle dilatation	OMIM:617557
Pelvis-Shoulder Dysplasia	Spina bifida occulta, Microphthalmia	OMIM:169550
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia	Congenital pyloric atresia, Esophageal stenosis	OMIM:619817
Baller-Gerold Syndrome	High palate, Abnormality of the kidney, Hydrocephalus, Perineal fistula, Anal atresia, Bifid uvul...	OMIM:218600
Deafness, X-Linked 7	Unilateral microphthalmos	OMIM:301018
C Syndrome	Multicystic kidney dysplasia, High palate, Abnormality of the anus, Renal hypoplasia/aplasia, Fem...	ORPHA:1308
Ectodermal Dysplasia-Blindness Syndrome	Recurrent respiratory infections, Microphthalmia	ORPHA:1806
Myhre Syndrome	Ventricular septal defect, Pericardial effusion, Atrial septal defect, Microphthalmia, Cryptorchi...	OMIM:139210
Alström Syndrome	Chronic bronchitis, Recurrent sinusitis, Hepatosplenomegaly, Hepatic steatosis, Oligospermia, Glo...	ORPHA:64
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Microphthalmia	OMIM:617306
Autosomal Dominant Kenny-Caffey Syndrome	Anemia, Hypocalcemic tetany, Hyperphosphatemia, Decreased testicular size, Hypocalcemic seizures,...	ORPHA:93325
Chilton-Okur-Chung Neurodevelopmental Syndrome	Patent foramen ovale, Anterior pituitary hypoplasia, Crossed fused renal ectopia, Recurrent urina...	OMIM:619841
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Large for gestational age, Lateral ventricle dilatation, Gliosis	OMIM:300868
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Slender build, Communicating hydrocephalus, Large for gestational age, Ventriculomegaly	ORPHA:457359
Incontinentia Pigmenti	Spina bifida occulta, Microphthalmia, Supernumerary nipple, Eosinophilia	ORPHA:464
Kenny-Caffey Syndrome, Type 2	Anemia, Hyperphosphatemia, Transient hypophosphatemia, Microphthalmia, Hypoparathyroidism, Hypoca...	OMIM:127000
Split Cord Malformation	Meningocele, Urinary incontinence, Renal duplication, Myelomeningocele, Detrusor sphincter dyssyn...	ORPHA:573278
Helsmoortel-Van Der Aa Syndrome	Ventriculomegaly, Lateral ventricle dilatation, Failure to thrive, Gliosis, Truncal obesity, Obesity	OMIM:615873
Coffin-Siris Syndrome 12	Gastroesophageal reflux, Hypothyroidism, Noncommunicating hydrocephalus, High palate, Patent fora...	OMIM:619325
Phace Syndrome	Hypothyroidism, Abnormal cardiac septum morphology, Lens coloboma, Optic nerve hypoplasia, Microp...	ORPHA:42775
Malt Lymphoma	Anemia, Lymphadenopathy, Mediastinal lymphadenopathy, Abnormality of the thyroid gland, Recurrent...	ORPHA:52417
Exudative Vitreoretinopathy 2, X-Linked	Microphthalmia	OMIM:305390
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome	Colpocephaly	ORPHA:477993
Osteogenesis Imperfecta	Noncommunicating hydrocephalus, Ventriculomegaly, Mitral valve prolapse, Hydrocephalus, Pulmonary...	ORPHA:666
Leptospirosis	Hyperproteinemia, Pulmonary hemorrhage, Acute kidney injury, Hepatitis, Jaundice, Cellular urinar...	ORPHA:509
Neuromuscular Oculoauditory Syndrome	Reduced renal corticomedullary differentiation, Multiple renal cysts, Elevated circulating creati...	OMIM:618733
Vitreoretinochoroidopathy	Microphthalmia	OMIM:193220
Prader-Willi Syndrome Due To Translocation	Obesity, Lateral ventricle dilatation	ORPHA:177907
Autosomal Dominant Keratitis	Macular hypoplasia, Hypoplastic iris stroma, Hypoplasia of the fovea, Bilateral microphthalmos, A...	ORPHA:2334
Oculodentodigital Dysplasia	High palate, Neurogenic bladder, Atrial septal defect, Microphthalmia, Cleft palate	OMIM:164200
Linear Nevus Sebaceus Syndrome	Microphthalmia, Dandy-Walker malformation, Ventriculomegaly, Adenoma sebaceum	ORPHA:2612
Familial Exudative Vitreoretinopathy	Microphthalmia	ORPHA:891
Rodrigues Blindness	Microphthalmia	OMIM:268320
Ulnar-Mammary Syndrome	Imperforate hymen, Anterior pituitary hypoplasia, Ventricular septal defect, Bicornuate uterus, S...	OMIM:181450
Cornea Plana 2, Autosomal Recessive	Microphthalmia	OMIM:217300
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Multicystic kidney dysplasia, Ventriculomegaly, Renal dysplasia, Aganglionic megacolon, Renal age...	OMIM:308205
Holoprosencephaly 1	Diabetes insipidus, Alobar holoprosencephaly, Median cleft lip and palate, Micropenis, Microphtha...	OMIM:236100
Oculodentodigital Dysplasia, Autosomal Recessive	Microphthalmia	OMIM:257850
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Patent foramen ovale, High palate, Ventricular septal defect, Renal hypoplasia/aplasia, Mitral va...	ORPHA:363700
Pallister-Killian Syndrome	Ventriculomegaly, Renal dysplasia, Bifid uvula, Hypoplastic labia majora, Supernumerary nipple, P...	OMIM:601803
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Buphthalmos, Microphthalmia	OMIM:212550
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Microphthalmia, Supernumerary nipple	ORPHA:1236
Fetal Akinesia Deformation Sequence 1	High palate, Hydrocephalus, Pulmonary hypoplasia, Cryptorchidism, Cleft palate, High, narrow palate	OMIM:208150
Momo Syndrome	Bilateral microphthalmos, High palate, Abnormality of the thyroid gland	ORPHA:2563
Microphthalmia, Isolated, With Coloboma 9	Microphthalmia	OMIM:615145
Anterior Segment Dysgenesis 7	Buphthalmos, Microphthalmia	OMIM:269400
Monosomy 13Q14	Holoprosencephaly, Webbed neck, Microphthalmia, Abnormality of the gastrointestinal tract	ORPHA:1587
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Renal cyst	OMIM:615560
Cutis Marmorata Telangiectatica Congenita	Hypothyroidism, Ascites, Multicystic kidney dysplasia, Displacement of the urethral meatus	ORPHA:1556
Anterior Segment Dysgenesis 2	Anterior segment of eye aplasia, Microphthalmia, Aniridia, Congenital aphakia	OMIM:610256
Microphthalmia, Isolated, With Corectopia	Microphthalmia	OMIM:156900
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Anophthalmia, Atrial septal defect, Pleural effusion, Microphthalmia, Chylothorax, Leukemia	ORPHA:2526
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Cleft palate, Microglossia, Microphthalmia	ORPHA:364577
Witteveen-Kolk Syndrome	Gastroesophageal reflux, Decreased response to growth hormone stimulation test, Ventriculomegaly,...	OMIM:613406
Holoprosencephaly 2	Diabetes insipidus, Bifid uvula, Semilobar holoprosencephaly, Submucous cleft hard palate, Alobar...	OMIM:157170
Treacher Collins Syndrome 1	Cleft soft palate, Abnormal parotid gland morphology, Bilateral microphthalmos, Abnormal heart mo...	OMIM:154500
Immunodeficiency 55	Lymphadenopathy, Neutropenia, Absent natural killer cells, Lymphopenia	OMIM:617827
Loeys-Dietz Syndrome 1	Pulmonary artery aneurysm, Eosinophilic infiltration of the esophagus, Bicuspid aortic valve, Mit...	OMIM:609192
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Anemia, Bilateral cryptorchidism, Hydrocephalus, Hypogonadism	ORPHA:3042
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Lymphadenopathy, Anemia, Hepatosplenomegaly	ORPHA:85408
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Microphthalmia, Hypotriglyceridemia	ORPHA:85167
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Hydrocephalus, Ventriculomegaly	OMIM:253280
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Microphthalmia	ORPHA:231736
Otopalatodigital Syndrome, Type Ii	Spina bifida, Hydrocephalus, Atrial septal defect, Hypospadias, Cryptorchidism, Cleft palate, Hyd...	OMIM:304120
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	High palate, Ventricular septal defect, Exaggerated median tongue furrow, Ventricular septal hype...	OMIM:608670
Plague	Lymphadenitis, Endocarditis, Enterocolitis, Glossitis, Inflammation of the large intestine, Hepat...	ORPHA:707
Pmm2-Cdg	Impaired neutrophil chemotaxis, Pericardial effusion, Pericarditis, Hypertrophic cardiomyopathy, ...	ORPHA:79318
Oculopalatocerebral Syndrome	Cleft palate, Microphthalmia	OMIM:257910
Craniofacial Microsomia	Vesicoureteral reflux, Multicystic kidney dysplasia, Anophthalmia, Ventricular septal defect, Ren...	OMIM:164210
Nance-Horan Syndrome	Microphthalmia	OMIM:302350
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Microphthalmia	OMIM:618727
Scalp-Ear-Nipple Syndrome	Lateral ventricle dilatation	OMIM:181270
Oculoauricular Syndrome	Macular hypoplasia, Spina bifida occulta, Microphthalmia, Phthisis bulbi, Microphakia	OMIM:612109
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Bifid uvula, Homocystinuria, High palate, Microphthalmia	OMIM:601552
Spondylocarpotarsal Synostosis Syndrome	Renal cyst, Cleft palate	OMIM:272460
Loeys-Dietz Syndrome 2	Pulmonary artery aneurysm, Eosinophilic infiltration of the esophagus, Bicuspid aortic valve, Mit...	OMIM:610168
Oculo-Palato-Cerebral Syndrome	Cleft palate, High, narrow palate, Microphthalmia	ORPHA:2714
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Failure to thrive, Obesity, Abnormal lateral ventricle morphology	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Failure to thrive, Obesity, Abnormal lateral ventricle morphology	ORPHA:353277
Norrie Disease	Hypoplasia of the iris, Buphthalmos, Microphthalmia	OMIM:310600
Persistent Hyperplastic Primary Vitreous	Macular hypoplasia, Buphthalmos, Microphthalmia, Phthisis bulbi	ORPHA:91495
Xeroderma Pigmentosum, Complementation Group D	Microphthalmia	OMIM:278730
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	High palate, Truncus arteriosus, Perimembranous ventricular septal defect, Bicuspid aortic valve,...	OMIM:612474
Congenital Disorder Of Glycosylation, Type Iim	Lateral ventricle dilatation	OMIM:300896
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Ventriculomegaly, Lateral ventricle dilatation, Progressive ventriculomegaly, Dysplastic corpus c...	ORPHA:500150
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Buphthalmos, Microphthalmia, Phthisis bulbi	OMIM:221900
Norrie Disease	Hypoplasia of the iris, Uterine rupture, Erectile dysfunction, Diabetes mellitus, Delayed puberty...	ORPHA:649
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Cleft palate, Tetralogy of Fallot, Cranium bifidum occultum, Microphthalmia	ORPHA:306542
Acrofrontofacionasal Dysostosis 1	Cleft palate, Microphthalmia	OMIM:201180
Chikungunya	Lymphadenopathy, Cervical lymphadenopathy	ORPHA:324625
Frontofacionasal Dysplasia	Bifid uvula, Cranium bifidum occultum, Microphthalmia	OMIM:229400
Osteoporosis-Pseudoglioma Syndrome	Phthisis bulbi, Microphthalmia, Ventricular septal defect	OMIM:259770
Choreoacanthocytosis	Weight loss, Lateral ventricle dilatation	ORPHA:2388
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Hemolytic anemia, Hypoplasia of the iris, Hydrocephalus, Elevated circulating creatine kinase con...	OMIM:175780
Neuroocular Syndrome	Patent foramen ovale, Ankyloglossia, Submucous cleft hard palate, Lens coloboma, Hypoplasia of th...	OMIM:619539
Isolated Arrhinia	Microphthalmia	ORPHA:1134
Microcephaly 29, Primary, Autosomal Recessive	Reduced renal corticomedullary differentiation, Hyperechogenic kidneys	OMIM:620047

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

Phenotype	Allele	Zygosity	Life Stage
Testis - MPATH pathological process term atrophy	Pdcd6ip^em1(IMPC)Mbp	HOM	Early adult
Brain - MPATH pathological entity term hydrocephalus	Pdcd6ip^em1(IMPC)Mbp	HOM	Early adult
Brain - MPATH pathological process term hypoplasia	Pdcd6ip^em1(IMPC)Mbp	HOM	Late adult
Brain - MPATH pathological process term hypoplasia	Pdcd6ip^em1(IMPC)Mbp	HOM	Early adult
Testis - MPATH pathological process term hypoplasia	Pdcd6ip^em1(IMPC)Mbp	HOM	Late adult

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Pdcd6ip.

No publications found that use IMPC mice or data for Pdcd6ip.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

This service may be affected by the Covid-19 pandemic. See how

MGI Allele	Allele Type	Produced
Pdcd6ip^em1(IMPC)Mbp	Exon Deletion	Mice, Tissue
Pdcd6ip^{em1(IMPC)Hmgu}	Indel	Mice
Pdcd6ip^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Pdcd6ip^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us

Gene: Pdcd6ip MGI:1333753

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

X-ray

X-ray

Histopathology

Human diseases caused by Pdcd6ip mutations

Histopathology

IMPC related publications

Order Mouse and ES Cells

The IMPC Newsletter

Access Data Release 19.0 Data