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Gene: Fbxl3 MGI:1354702

Gene Summary

Name:

F-box and leucine-rich repeat protein 3

Synonyms:

Fbl3a, Play68, Ovtm, Fbxl3a

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 skeletal muscle morphology	Fbxl3^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal spleen morphology	Fbxl3^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
decreased heart rate	Fbxl3^{em1(IMPC)Ccpcz}	HOM	Early adult	8.88×10^-05
enlarged testis	Fbxl3^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
decreased circulating total protein level	Fbxl3^{em1(IMPC)Ccpcz}	HOM	Early adult	8.88×10^-06
decreased lean body mass	Fbxl3^{em1(IMPC)Ccpcz}	HOM	Early adult	4.84×10^-05
decreased erythrocyte cell number	Fbxl3^{Gt(CB0226)Wtsi}	HOM	Early adult	4.76×10^-05
hydrocephaly	Fbxl3^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
decreased spleen weight	Fbxl3^{em1(IMPC)Ccpcz}	HOM	Early adult	3.01×10^-06
abnormal brain morphology	Fbxl3^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal heart morphology	Fbxl3^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal skin morphology	Fbxl3^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
enlarged heart	Fbxl3^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal retina morphology	Fbxl3^{em1(IMPC)Ccpcz}	HOM	Early adult	1.53×10^-05
decreased liver weight	Fbxl3^{em1(IMPC)Ccpcz}	HOM	Early adult	1.02×10^-05
increased circulating chloride level	Fbxl3^{em1(IMPC)Ccpcz}	HOM	Early adult	1.77×10^-05
increased lean body mass	Fbxl3^{Gt(CB0226)Wtsi}	HOM	Early adult	4.98×10^-05
abnormal duodenum morphology	Fbxl3^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
increased circulating alkaline phosphatase level	Fbxl3^{em1(IMPC)Ccpcz}	HOM	Early adult	7.48×10^-05
abnormal testis morphology	Fbxl3^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00

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Human diseases caused by Fbxl3 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 Fbxl3 (1 diseases)
Human diseases predicted to be associated with Fbxl3 (939 diseases)

The table below shows human diseases associated to Fbxl3 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Intellectual Developmental Disorder With Short Stature, Facial Anomalies, And Speech Defects		High palate	OMIM:606220

The table below shows human diseases predicted to be associated to Fbxl3 by phenotypic similarity.

Disease	Matching phenotypes	Source
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome	Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Adrenocorti...	ORPHA:231720
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Elevated circulating creatine kinase concentration, Ventricular tachycardia, Atrioventricular blo...	ORPHA:26793
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Tachycardia, Small bowel diverticula, Fat malabsorption, Hypoproteinemia, Jejunoileal ulceration	OMIM:221400
Refractory Celiac Disease	Normocytic anemia, Elevated hepatic transaminase, Villous atrophy, Macrocytic anemia, Malabsorpti...	ORPHA:398063
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Macroorchidism, Congestive heart failure, Hydrocephalus, Cardiomegaly	OMIM:300886
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Increa...	OMIM:267700
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Ventricular hypertrophy, Hepatomegaly, Elevated circulating aspartate aminotransferase concentrat...	OMIM:619048
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatomegaly, Ventricular septal defect, Thyroid lymphangiectasia, Splenomegaly, Pancreatic lymph...	OMIM:235255
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Elevated circulating creati...	OMIM:615895
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Ventricular septal defect, Abnormal fallopian tube morphology, Splenomegaly, Pancre...	ORPHA:1655
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive	Nemaline bodies, Increased variability in muscle fiber diameter, Bradycardia, Dysphagia, Weakness...	OMIM:620265
Atrial Standstill	Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ...	ORPHA:1344
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Increased CSF protein concentrati...	OMIM:603553
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hepatomegaly, Intestinal obstruction, Pulmonary embolism, Malabsorption, Iron deficiency anemia, ...	OMIM:226300
Primary Intestinal Lymphangiectasia	Increased stool alpha1-antitrypsin concentration, Peritoneal effusion, Pericardial effusion, Func...	ORPHA:90362
Johanson-Blizzard Syndrome	Hypoplasia of penis, Hypospadias, Dextrocardia, Malabsorption, Abnormality of the female genitali...	ORPHA:2315
Chronic Atrial And Intestinal Dysrhythmia	Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Intestinal pseudo-obstruction, Bi...	OMIM:616201
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Lymphopenia, Hypoproteinemia, Chorioretinal coloboma, Malabsorption	ORPHA:1116
Adenosine Triphosphate, Elevated, Of Erythrocytes	Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia	OMIM:102900
Ménétrier Disease	Gastrointestinal hemorrhage, Helicobacter pylori infection, Abnormal gastric mucosa morphology, M...	ORPHA:2494
Congenital Disorder Of Glycosylation, Type Iid	Decreased muscle mass, Elevated circulating aspartate aminotransferase concentration, Elevated ci...	OMIM:607091
Lymphangiectasia, Intestinal	Intestinal lymphangiectasia, Lymphopenia, Neonatal hypoproteinemia, Malabsorption	OMIM:152800
Citrullinemia Type Ii	Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Acute hyperammonemia, Hyp...	ORPHA:247585
Carnitine-Acylcarnitine Translocase Deficiency	Ventricular hypertrophy, Hepatomegaly, Elevated hepatic transaminase, Elevated circulating creati...	OMIM:212138
Cardiomyopathy, Dilated, 1I	Reduced systolic function, Elevated circulating creatine kinase concentration, Cardiomegaly, Cong...	OMIM:604765
Thyrotropin-Releasing Hormone Deficiency	Hypothalamic hypothyroidism, Hypothyroidism	OMIM:275120
Dengue Fever	Gastrointestinal hemorrhage, Hepatomegaly, Epistaxis, Cerebral hemorrhage, Leukopenia, Hypotensio...	ORPHA:99828
Omenn Syndrome	Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop...	OMIM:603554
Congenital Disorder Of Glycosylation, Type Ij	Elevated hepatic transaminase, Cryptorchidism, Jaundice, Flexion contracture, Hypoproteinemia	OMIM:608093
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Intestinal lymphangiectasia, Lymphopenia, Hypoproteinemia	OMIM:207731
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant	Elevated circulating creatine kinase concentration, First degree atrioventricular block, Peroneal...	OMIM:181350
Hemochromatosis, Type 1	Elevated hepatic transaminase, Hepatomegaly, Hypogonadotropic hypogonadism, Cardiomegaly, Increas...	OMIM:235200
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Hypospadias, Cryptorchidism, Dilated cardiomyopathy, Flexion contracture, Micropenis, Bradycardia...	OMIM:618815
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Atrial flutter, Tricuspid regurgitation, Protruding tongue, Cardiomegaly, Congestive heart failur...	ORPHA:324410
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia	Sick sinus syndrome, Gastroesophageal reflux, Bradycardia, Retinal degeneration	OMIM:617173
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Retinal dystrophy, Elevated circulating creatine kinase concentration, Facial palsy, Hydrocephalu...	OMIM:613155
Mental retardation, x-linked, syndromic, Turner type	Macroorchidism, Holoprosencephaly	OMIM:300706
Myopathy, Myofibrillar, 1	Facial palsy, Dilated cardiomyopathy, EMG: myopathic abnormalities, Third degree atrioventricular...	OMIM:601419
Pseudohypoaldosteronism, Type Iic	Hyperchloremia, Hyperkalemia, Hypertension, Decreased circulating renin level	OMIM:614492
1Q21.1 Microduplication Syndrome	Hypospadias, Cryptorchidism, Hydrocephalus, Tetralogy of Fallot, Gastroesophageal reflux, Arthrog...	ORPHA:250994
Enterokinase Deficiency	Failure to thrive, Hypoproteinemia	OMIM:226200
Erythrocytosis, Familial, 6	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617980
Combined Oxidative Phosphorylation Deficiency 10	Small for gestational age, Cardiomegaly, Pericardial effusion, Optic atrophy, Hyperammonemia, Bra...	OMIM:614702
Lipodystrophy, Congenital Generalized, Type 4	Prolonged QT interval, Hepatomegaly, Tachycardia, Hypertriglyceridemia, Atrial fibrillation, Elev...	OMIM:613327
Nephrotic Syndrome, Type 1	Small for gestational age, Pyloric stenosis, Hyperlipidemia, Gastroesophageal reflux, Hypoalbumin...	OMIM:256300
Erythrocytosis, Familial, 3	Increased red blood cell mass, Increased hematocrit, Increased hemoglobin	OMIM:609820
Megalencephaly	Atrial septal defect, Truncal obesity, Long penis, Macroorchidism	ORPHA:2477
Sinoatrial Node Dysfunction And Deafness	Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia	OMIM:614896
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
Intellectual Developmental Disorder, X-Linked 2	Macroorchidism, High palate	OMIM:300428
Alpha-Heavy Chain Disease	Hepatomegaly, Abnormal small intestine morphology, Malabsorption, Splenomegaly, Lymphadenopathy, ...	ORPHA:100025
Pseudohypoaldosteronism, Type Iib	Hyperchloremia, Hyperkalemia, Hypertension	OMIM:614491
Pseudohypoaldosteronism, Type Iid	Hyperchloremia, Hyperkalemia, Hypertension	OMIM:614495
Lipoyltransferase 1 Deficiency	Elevated hepatic transaminase, Hyperglutaminemia, Hyperprolinemia, Bradycardia, Decreased liver f...	OMIM:616299
Mitochondrial Complex I Deficiency, Nuclear Type 13	Hepatomegaly, Cardiac arrest, Bradycardia, Hypertrophic cardiomyopathy, Failure to thrive	OMIM:618235
Edinburgh Malformation Syndrome	Hydrocephalus, Jaundice, Failure to thrive, Neonatal hyperbilirubinemia	OMIM:129850
Attrv122I Amyloidosis	Abnormal EKG, Increased circulating NT-proBNP concentration, Angina pectoris, Abnormal atrioventr...	ORPHA:85451
Chromosome 8Q12.1-Q21.2 Deletion Syndrome	Hydrocephalus, Trapezius muscle aplasia	OMIM:600257
Gastritis, Familial Giant Hypertrophic	Hypoproteinemia, Giant hypertrophic gastritis	OMIM:137280
Congenital Toxoplasmosis	Elevated hepatic transaminase, Hepatomegaly, Abnormality of retinal pigmentation, Ventriculomegal...	ORPHA:858
Liver Disease, Severe Congenital	Chronic gastritis, Cardiomegaly, Biliary hyperplasia, Abnormal left ventricular function, Leukope...	OMIM:619991
Pseudohypoaldosteronism, Type Iie	Hyperchloremia, Hyperkalemia, Hypertension	OMIM:614496
Familial Peripheral Male-Limited Precocious Puberty	Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism	ORPHA:3000
Hemochromatosis, Type 2A	Hepatomegaly, Hypogonadotropic hypogonadism, Increased circulating ferritin concentration, Conges...	OMIM:602390
Immunodeficiency 43	Decreased circulating beta-2-microglobulin level, B lymphocytopenia, Hypoalbuminemia, Reduced nat...	OMIM:241600
Coenzyme Q10 Deficiency, Primary, 7	Ventricular septal defect, Hypoplastic left heart, Bradycardia, Dysphagia, Hypertrophic cardiomyo...	OMIM:616276
Long Qt Syndrome 15	Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard...	OMIM:616249
Atrial Fibrillation, Familial, 18	Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio...	OMIM:617280
Chédiak-Higashi Syndrome	Vacuolated lymphocytes, Neutropenia, Abnormal natural killer cell morphology, Hyponatremia, Peric...	ORPHA:167
Erythrocytosis, Familial, 5	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617907
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Persistent fetal circulation, Papilledema, Ventricular septal defect, Elevated circulating creati...	OMIM:618775
Atrial Fibrillation, Familial, 10	Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Left atrial enlargement,...	OMIM:614022
Infantile Sialic Acid Storage Disease	Hepatomegaly, Cardiomegaly, Conjugated hyperbilirubinemia, Congestive heart failure, Splenomegaly...	OMIM:269920
Intellectual Developmental Disorder, X-Linked 14	Macroorchidism	OMIM:300062
Cardiomyopathy, Dilated, 1D	Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Incr...	OMIM:601494
Congenital Myopathy 8	Internally nucleated skeletal muscle fibers, Cardiomegaly, Congestive heart failure, Increased va...	OMIM:618654
Pancreatic insufficiency, combined exocrine	Congestive heart failure, Hypoproteinemia, Anal atresia, Exocrine pancreatic insufficiency	OMIM:260450
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia	Patent foramen ovale, Sick sinus syndrome, Gastroesophageal reflux, Bradycardia	OMIM:617182
47,Xyy Syndrome	Male infertility, Macroorchidism, Hypospadias, Cryptorchidism, Increased circulating gonadotropin...	ORPHA:8
Cirrhotic Cardiomyopathy	Increased circulating NT-proBNP concentration, Cardiomegaly, Global systolic dysfunction, Hepatom...	ORPHA:57777
Erythrocytosis, Familial, 7	Increased hematocrit, Polycythemia	OMIM:617981
Cln3 Disease	Bull's eye maculopathy, Vacuolated lymphocytes, Optic atrophy, Pigmentary retinopathy, T-wave inv...	ORPHA:228346
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Centrally nucleated ...	OMIM:616812
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Hypertrophic cardiomyopathy, Ventricular septal defect, Bradycardia, Increased CSF lactate	OMIM:616277
Congenital Heart Block	First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive heart failur...	ORPHA:60041
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant	Skeletal muscle atrophy, Atrial fibrillation, Proximal amyotrophy, Bradycardia, Muscular dystroph...	OMIM:614302
Timothy Syndrome	Prolonged QT interval, Ventricular septal defect, Cardiomegaly, Ventricular tachycardia, Atrioven...	OMIM:601005
Fragile X Syndrome	Macroorchidism, postpubertal, Congenital macroorchidism, Mitral valve prolapse	OMIM:300624
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome	Macroorchidism	ORPHA:85320
Symptomatic Form Of Hfe-Related Hemochromatosis	Decreased muscle mass, Cardiomegaly, Hepatomegaly, Hypogonadotropic hypogonadism, Portal hyperten...	ORPHA:465508
Polyembryoma	Abnormal peritoneum morphology, Isosexual precocious puberty, Elevated circulating alpha-fetoprot...	ORPHA:180229
Partington Syndrome	Macroorchidism, Facial telangiectasia	ORPHA:94083
Intellectual Developmental Disorder, X-Linked, Syndromic 11	Macroorchidism, Obesity	OMIM:300238
Coenzyme Q10 Deficiency, Primary, 5	Left ventricular hypertrophy, Hyperalaninemia, Decreased level of coenzyme Q10 in skeletal muscle...	OMIM:614654
Ethanolaminosis	Cardiomegaly	OMIM:227150
Lujan-Fryns Syndrome	Atrial septal defect, Macroorchidism, High palate, Camptodactyly of finger	ORPHA:776
Congenitally Corrected Transposition Of The Great Arteries	Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear...	ORPHA:216694
Fragile X Syndrome	Macroorchidism, Gastroesophageal reflux, Mitral valve prolapse	ORPHA:908
Tako-Tsubo Cardiomyopathy	Prolonged QTc interval, Mildly elevated creatine kinase, Mildly reduced left ventricular ejection...	ORPHA:66529
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating aspartate ...	OMIM:212140
Isolated Thyroid-Stimulating Hormone Deficiency	Thyroid hypoplasia, Failure to thrive, Pituitary hypothyroidism, Macroglossia, Bradycardia, Prolo...	ORPHA:90674
Xp22.13P22.2 Duplication Syndrome	Congenital diaphragmatic hernia, Polycystic ovaries, Truncal obesity, High palate, Macroorchidism	ORPHA:284180
Danon Disease	Wolff-Parkinson-White syndrome, Myocardial necrosis, Elevated circulating creatine kinase concent...	OMIM:300257
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:600649
Juvenile Polyposis Syndrome	Small intestinal polyposis, Juvenile gastrointestinal polyposis, Hamartomatous polyposis, Protein...	ORPHA:2929
Congenital Myopathy 22A, Classic	Hip contracture, Scapular winging, Tricuspid regurgitation, Centrally nucleated skeletal muscle f...	OMIM:620351
Congenital Analbuminemia	Small for gestational age, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypoalbuminemia, Lo...	ORPHA:86816
Developmental And Epileptic Encephalopathy 36	Hepatomegaly, Hydrocephalus, Flexion contracture, Optic atrophy	OMIM:300884
Hydrocephalus, Congenital, 1	Hydrocephalus, Ventriculomegaly	OMIM:236600
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3	Premature ovarian insufficiency, Ragged-red muscle fibers, Limb muscle weakness, EMG: myopathic a...	OMIM:609286
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Macroorchidism, Congestive heart failure, Obesity	ORPHA:3077
Beemer Lethal Malformation Syndrome	Ambiguous genitalia, Hydrocephalus, Thrombocytopenia	OMIM:209970
Long Qt Syndrome 16	T-wave alternans, Second degree atrioventricular block, Perimembranous ventricular septal defect,...	OMIM:618782
Cardiomyopathy, Familial Hypertrophic, 27	Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Cardiomegaly, Left ventricular di...	OMIM:618052
Acitretin/Etretinate Embryopathy	Abnormal retinal morphology, Conotruncal defect, High palate, Third degree atrioventricular block...	ORPHA:40366
Mccune-Albright Syndrome	Hyperplasia of the Leydig cells, Pancytopenia, Elevated circulating growth hormone concentration,...	ORPHA:562
Idiopathic Congenital Hypothyroidism	Macroglossia, Bradycardia, Neonatal hyperbilirubinemia, Prolonged neonatal jaundice	ORPHA:95717
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome	Hydrocephalus, Optic atrophy, Dandy-Walker malformation	ORPHA:1538
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Facial hypotonia, Flexion contracture, Obesity, High palate, Macroorchidism, Male hypogonadism, W...	OMIM:300055
Glutamine Deficiency, Congenital	Hypoglutaminemia, Flexion contracture, Hyperammonemia, Subependymal cysts, Lateral ventricle dila...	OMIM:610015
Functioning Gonadotropic Adenoma	Macroorchidism, postpubertal, Decreased female libido, Decreased response to growth hormone stimu...	ORPHA:91348
Atkin-Flaitz Syndrome	Macroorchidism, Obesity	ORPHA:1193
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Necrotizing enterocolitis, Exercise-induced rhabdomyolysis, Elevated circulating cr...	OMIM:201475
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Ventricular escape rhythm, Sick sinus syndrome, Gastroesophageal reflux, Bradycardia, Prolonged P...	ORPHA:542306
Prolactin Deficiency With Obesity And Enlarged Testes	Macroorchidism, Obesity, Reduced circulating prolactin concentration	OMIM:264120
Erythrocytosis, Familial, 4	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:611783
Glycogen Storage Disease Of Heart, Lethal Congenital	Prolonged QRS complex, Left axis deviation, Cardiomegaly, Congestive heart failure, ST segment el...	OMIM:261740
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	Ventricular hypertrophy, Increased mitochondrial number, Decreased muscle mass, Decreased muscle ...	ORPHA:263297
Sick Sinus Syndrome 2	Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden...	OMIM:163800
Clark-Baraitser syndrome	Macroorchidism, Exaggerated median tongue furrow, Obesity	OMIM:300602
Gaisböck Syndrome	Hypertriglyceridemia, Angina pectoris, Peptic ulcer, Myocardial infarction, Overweight, Splenomeg...	ORPHA:90041
Wild Type Attr Amyloidosis	Abnormal EKG, Hepatomegaly, Myocardial infarction, Congestive heart failure, Gastrointestinal dys...	ORPHA:330001
Neonatal Lupus Erythematosus	Prolonged QT interval, Hepatomegaly, Hemolytic anemia, Pancytopenia, Aplastic anemia, Elevated he...	ORPHA:398124
Multifocal Atrial Tachycardia	Atrial septal defect, Atrial flutter, Tachycardia, Atrial fibrillation, Ventricular septal defect...	ORPHA:3282
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Colitis, Hypoalbuminemia, Obesity, Cardiomegaly	ORPHA:88643
Atrial Standstill 2	Atrial cardiomyopathy, Absent P wave, Atrial standstill, Dilatation of the ventricular cavity, Hy...	OMIM:615745
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Elevated circulating creati...	ORPHA:42
Atrial Septal Defect 6	Atrial septal defect, Atrial fibrillation, Bradycardia	OMIM:613087
Meningioma	Enlarged pituitary gland, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Re...	ORPHA:2495
Cardiomyopathy, Familial Hypertrophic, 4	First degree atrioventricular block, Cardiomegaly, Atrioventricular block, Left bundle branch blo...	OMIM:115197
Sudden Cardiac Failure, Infantile	Sudden cardiac death, Myocarditis, Congestive heart failure, Myocardial fibrosis, Bradycardia, Hy...	OMIM:617222
Epilepsy, Idiopathic Generalized, Susceptibility To, 18	Bradycardia	OMIM:619521
Familial Thyroid Dyshormonogenesis	Macroglossia, Bradycardia, Prolonged neonatal jaundice, Abnormal circulating thyroglobulin level,...	ORPHA:95716
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent	Hydrocephalus, Elevated circulating alpha-aminoadipic semialdehyde concentration	OMIM:266100
Alg6-Cdg	Failure to thrive, Jaundice, Decreased LDL cholesterol concentration, Macroglossia, Abnormality o...	ORPHA:79320
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	Hydrocephalus, Ventriculomegaly	OMIM:615938
Sepsis In Premature Infants	Hepatomegaly, Tachycardia, Small for gestational age, Elevated circulating C-reactive protein con...	ORPHA:90051
Megalencephaly, Autosomal Dominant	Hydrocephalus	OMIM:155350
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2	Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia	OMIM:611938
Mitochondrial Complex I Deficiency, Nuclear Type 39	Small for gestational age, Hypospadias, Cardiomegaly, Cryptorchidism, Perimembranous ventricular ...	OMIM:620135
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Hydrocephalus	ORPHA:2807
Hemophagocytic Syndrome Associated With An Infection	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Splenomegaly, In...	ORPHA:158048
Isolated Follicle Stimulating Hormone Deficiency	Hyperplasia of the Leydig cells, Decreased female libido, Hypogonadotropic hypogonadism, Female h...	ORPHA:52901
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Hypertension, Hydrocephalus, Thrombocytopenia	OMIM:166990
Non-Functioning Pituitary Adenoma	Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio...	ORPHA:91349
Cardiomyopathy, Familial Hypertrophic, 6	Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail...	OMIM:600858
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Impaired lymphocyte transformation with phytohemagglutinin, Intestinal obstruction, Autoimmune he...	OMIM:243150
3-Methylglutaconic Aciduria, Type V	Prolonged QT interval, Noncompaction cardiomyopathy, Hypospadias, Elevated circulating aspartate ...	OMIM:610198
Attrv30M Amyloidosis	Cardiomegaly, Vitreous floaters, Atrioventricular block, Weight loss, Cardiomyopathy, Impotence, ...	ORPHA:85447
Pineocytoma	Hydrocephalus, Increased CSF protein concentration	ORPHA:251912
Refsum Disease, Classic	Cardiomegaly, Congestive heart failure, Elevated circulating phytanic acid concentration, Limb mu...	OMIM:266500
Nephrotic Syndrome, Type 22	Hypoproteinemia	OMIM:619155
Congenital Muscular Dystrophy, Fukuyama Type	Hypoglycosylation of alpha-dystroglycan, Camptodactyly of finger, Hydrocephalus, Dilated cardiomy...	ORPHA:272
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2	Hydrocephalus, Ventriculomegaly	OMIM:615937
17Q11.2 Microduplication Syndrome	Macroorchidism	ORPHA:139474
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat...	OMIM:616117
Coach Syndrome 2	Elevated hepatic transaminase, Congenital hepatic fibrosis, Hydrocephalus, Elevated circulating c...	OMIM:619111
Cardiomyopathy, Dilated, 2G	Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Increased Z-disc width, Left atrial e...	OMIM:619897
Sim1-Related Prader-Willi-Like Syndrome	Premature pubarche, Hypogonadotropic hypogonadism, Precocious puberty, Absence of pubertal develo...	ORPHA:398079
Craniofacial Conodysplasia	Hydrocephalus	ORPHA:85168
Aicardi-Goutieres Syndrome 4	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Ventriculomegaly, Splenomegaly, Hydroc...	OMIM:610333
Glycogen Storage Disease Ii	Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Increased circulating NT-proB...	OMIM:232300
Intellectual Developmental Disorder, X-Linked 21	Macroorchidism	OMIM:300143
Congenitally Uncorrected Transposition Of The Great Arteries	Cardiac shunt, Cardiomegaly, Dextrotransposition of the great arteries, Abnormality of blood circ...	ORPHA:860
X-Linked Intellectual Disability, Shashi Type	Macroorchidism, Obesity	ORPHA:85286
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility	Intestinal malrotation, Partial atrioventricular canal defect, Reduced progressive sperm motility...	OMIM:619608
Mitochondrial Complex I Deficiency, Nuclear Type 37	Skeletal muscle atrophy, Hypospadias, Increased CSF lactate, High palate, Bradycardia, Pulmonary ...	OMIM:619272
Leptospirosis	Papilledema, Pericarditis, Hepatomegaly, First degree atrioventricular block, Jaundice, Rhabdomyo...	ORPHA:509
Mitchell-Riley Syndrome	Absent gallbladder, Jejunal atresia, Intestinal malrotation, Malabsorption, Biliary atresia, Chol...	OMIM:615710
Carnitine Palmitoyltransferase I Deficiency	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:255120
Necrotizing Enterocolitis	Hyponatremia, Shock, Small for gestational age, Leukocytosis, Peritonitis, Abnormal heart morphol...	ORPHA:391673
Fried Syndrome	High palate, Hydrocephalus, Abnormal optic nerve morphology, Skeletal muscle atrophy	ORPHA:85335
Uruguay Faciocardiomusculoskeletal Syndrome	Ventricular hypertrophy, Elevated hepatic transaminase, Elevated circulating creatine kinase conc...	OMIM:300280
Congenital Disorder Of Glycosylation, Type Iil	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Ventriculomegaly, Ventricular septal d...	OMIM:614576
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Dysplastic testes, Cryptorchidism, Testicular dysgenesis, Gastroesophageal reflux, Bradycardia, A...	OMIM:608800
Congenital Muscular Dystrophy With Cerebellar Involvement	Dilated fourth ventricle, Retinal detachment, Occipital encephalocele, Calf muscle pseudohypertro...	ORPHA:370959
Aromatase Deficiency	Eunuchoid habitus, Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism...	ORPHA:91
Temple Syndrome	Decreased testicular size, Hypertriglyceridemia, Small for gestational age, Overweight, Precociou...	OMIM:616222
Hypogonadotropic Hypogonadism 25 With Anosmia	Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio...	OMIM:618841
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome	Hydrocephalus	ORPHA:2703
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Hyponatremia, Endometrial carcinoma, Adrenal hyperplasia, Jaundice, Male pseudohermaphroditism, H...	ORPHA:90790
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, Hypertriglyceridemia, Pericardial eff...	OMIM:619313
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Retinal detachment, Ventriculomegaly, Elevated circulating creatine kinase concentration, Hydroce...	OMIM:613153
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive in infancy, Cardiomegaly, Hyperpro...	OMIM:619064
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Hydrocephalus, Retinal dysplasia, Ventriculomegaly, Muscular dystrophy	OMIM:614830
Triploidy	Hepatomegaly, Hypoplasia of penis, Hypospadias, Intestinal malrotation, Abnormality of the pancre...	ORPHA:3376
Hydrocephalus-Obesity-Hypogonadism Syndrome	Hypergonadotropic hypogonadism, High, narrow palate, Hydrocephalus, Obesity, Mitral valve prolaps...	ORPHA:2183
Heterotaxy, Visceral, 1, X-Linked	Cardiomegaly, Asplenia, Aqueductal stenosis, Biliary atresia, Dextrotransposition of the great ar...	OMIM:306955
Pseudo-Torch Syndrome 2	Elevated hepatic transaminase, Hepatomegaly, Ventriculomegaly, Cerebral hemorrhage, Secundum atri...	OMIM:617397
Diarrhea 7, Protein-Losing Enteropathy Type	Villous atrophy, Hyperlipidemia, Hypoalbuminemia, Protein-losing enteropathy, Hypercholesterolemi...	OMIM:615863
Combined Oxidative Phosphorylation Deficiency 8	Cardiomegaly, Congestive heart failure, Reduced left ventricular ejection fraction, Increased var...	OMIM:614096
Diarrhea 1, Secretory Chloride, Congenital	Hyponatremia, Elevated stool chloride content, Hypochloremia, Hypokalemia, Increased circulating ...	OMIM:214700
Mitochondrial Complex Iv Deficiency, Nuclear Type 19	Increased mitochondrial number, Increased CSF alanine concentration, Increased CSF lactate, Prote...	OMIM:619063
Congenital Hydrocephalus	Hydrocephalus, Optic atrophy, Abnormal heart morphology, Colpocephaly, Macular hypoplasia, Ventri...	ORPHA:2185
Coproporphyria, Hereditary	Hepatomegaly, Increased fecal coproporphyrin III:coproporphyrin I ratio, Tachycardia, Increased f...	OMIM:121300
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Hydrocephalus, Ventriculomegaly	OMIM:618709
Pierson Syndrome	Retinal detachment, Skeletal muscle atrophy, Remnants of the hyaloid vascular system, Retinal hem...	OMIM:609049
Congenital Disorder Of Glycosylation, Type Ih	Hepatomegaly, Thrombocytopenia, Cryptorchidism, Elevated circulating creatinine concentration, Ch...	OMIM:608104
Walker-Warburg Syndrome	Retinal detachment, Hypoplasia of penis, Ventriculomegaly, Retinal dystrophy, Chorioretinal dyspl...	ORPHA:899
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Hypospadias, Mitral valve prolapse, Bilateral cleft lip and palate, High palate, Macroorchidism, ...	OMIM:618874
Secondary Short Bowel Syndrome	Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys...	ORPHA:95427
Mirage Syndrome	Hyponatremia, Hypospadias, Hypergonadotropic hypogonadism, Shawl scrotum, Thrombocytopenia, Esoph...	OMIM:617053
Dextrocardia	Abnormal EKG, Intestinal malrotation, Dextrocardia, Situs inversus totalis, Abnormality of the sp...	ORPHA:1666
Tropical Endomyocardial Fibrosis	Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun...	ORPHA:75565
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Ventriculomegaly, Ventricular septal defect, Splenomegaly, Hydrocephalus, Obesity, ...	OMIM:615630
Paroxysmal Extreme Pain Disorder	Tachycardia, Bradycardia	OMIM:167400
Neuroleptic Malignant Syndrome	Elevated circulating creatine kinase concentration, Pulmonary embolism, Hypocalcemia, Hyponatremi...	ORPHA:94093
Crimean-Congo Hemorrhagic Fever	Bundle branch block, Elevated circulating creatine kinase concentration, Abnormal left ventricula...	ORPHA:99827
Atypical Teratoid Rhabdoid Tumor	Hydrocephalus	ORPHA:99966
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Cryptorchidism, Hydrocephalus, Obesity, Hypogonadism, Retinal coloboma, Rod-cone dystrophy	OMIM:601794
Bile Acid Synthesis Defect, Congenital, 1	Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Conjugated hyperbilirubinemia,...	OMIM:607765
Cardiomyopathy, Dilated, 1A	Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, P...	OMIM:115200
Mitochondrial Complex I Deficiency, Nuclear Type 36	Optic disc pallor, Cardiomegaly, Hyperprolinemia, Perimembranous ventricular septal defect, Hyper...	OMIM:619170
Congenital Disorder Of Glycosylation, Type It	Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Ventricular septal defect, Elevated cir...	OMIM:614921
Griscelli Syndrome	Encephalocele, Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Pyloric stenosis, Jaundice...	ORPHA:381
Aminoacylase 1 Deficiency	Bradycardia	OMIM:609924
Distal 7Q11.23 Microduplication Syndrome	Cryptorchidism, Hydrocephalus, Frontal encephalocele, Congenital diaphragmatic hernia	ORPHA:261102
Fanconi Anemia, Complementation Group B	Ventriculomegaly, Ventricular septal defect, Optic disc hypoplasia, Aplastic anemia, Hypergonadot...	OMIM:300514
Magel2-Related Prader-Willi-Like Syndrome	Hypothalamic luteinizing hormone-releasing hormone deficiency, Precocious puberty, Absence of pub...	ORPHA:398069
Combined Oxidative Phosphorylation Defect Type 39	Optic disc pallor, Cryptorchidism, Increased CSF lactate, Congenital foot contractures, Lateral v...	ORPHA:565624
Cholestasis, Progressive Familial Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Epistaxis, Conjugated hyperbilirub...	OMIM:211600
Acquired Aneurysmal Subarachnoid Hemorrhage	Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Leukocytosis, Hyperglycorrh...	ORPHA:90065
X-Linked Intellectual Disability-Plagiocephaly Syndrome	Bradycardia	ORPHA:2898
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Large for gestational age, Macroglossia, Bradycardia, Prolonged neonatal jaundice, Goiter	ORPHA:226313
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Ventriculomegaly, Elevated circulating creatine kinase concentration, Elevated circulating aspart...	OMIM:613154
Romano-Ward Syndrome	Sudden cardiac death, Sinus bradycardia, Hypokalemia, Syncope, Torsade de pointes, Abnormal T-wav...	ORPHA:101016
Fixed Subaortic Stenosis	Aortic regurgitation, Paroxysmal atrial fibrillation, Angina pectoris, Bicuspid aortic valve, Ven...	ORPHA:3092
Methylmalonic Acidemia With Homocystinuria	Hydrocephalus, Failure to thrive, Retinopathy	ORPHA:26
Congenital Disorder Of Glycosylation, Type Ib	Hepatomegaly, Villous atrophy, Hepatic failure, Hypoalbuminemia, Protein-losing enteropathy, Hepa...	OMIM:602579
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Macroorchidism, Ventricular septal defect, Flexion contracture, High palate, Atrial septal defect	OMIM:309520
Tetanus	Tachycardia, Elevated circulating creatine kinase concentration, Hypertension, Bradycardia, Dysph...	ORPHA:3299
Aapoaiv Amyloidosis	Abnormality of the gastrointestinal tract, Atrial flutter, Abnormal cardiac ventricular function,...	ORPHA:439232
Trimethylaminuria	Tachycardia, Splenomegaly, Hypertension, Neutropenia, Anemia	OMIM:602079
Mulibrey Nanism	Hepatomegaly, Cardiomegaly, Congestive heart failure, Myocardial fibrosis, Pigmentary retinopathy...	OMIM:253250
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Retinal detachment, Optic nerve hypoplasia, Elevated circulating creatine kinase concentration, H...	OMIM:615181
B4Galt1-Cdg	Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Elevated circulating crea...	ORPHA:79332
Coronary Arterial Fistula	Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect...	ORPHA:2041
Whipple Disease	Hyponatremia, Gastrointestinal hemorrhage, Pericarditis, Hepatomegaly, Myositis, Myocardial infar...	ORPHA:3452
Blood Group, Cromer System	Protein-losing enteropathy	OMIM:613793
Chudley-Mccullough Syndrome	Hydrocephalus, Ventriculomegaly	OMIM:604213
Cholestasis, Progressive Familial Intrahepatic, 2	Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Intrahepatic cholestasis, Intermittent...	OMIM:601847
Familial Short Qt Syndrome	Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope...	ORPHA:51083
Primary Ciliary Dyskinesia	Male infertility, Abnormal atrial arrangement, Atrial situs ambiguous, Intestinal malrotation, Fe...	ORPHA:244
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Tricuspid regurgitation, Cardiomegaly, Hyperammonemia, Increased CSF lac...	OMIM:619051
Martinez-Frias Syndrome	Intestinal hypoplasia, Hypoplasia of the gallbladder, Jejunal atresia, Intestinal malrotation, Hy...	OMIM:601346
Greig Cephalopolysyndactyly Syndrome	Hypospadias, Abnormal muscle fiber morphology, Cryptorchidism, Hydrocephalus, Abnormal heart morp...	OMIM:175700
Hyperinsulinism Due To Ucp2 Deficiency	Hepatomegaly, Tachycardia, Large for gestational age, Decreased circulating free fatty acid level...	ORPHA:276556
Polycythemia Vera	Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato...	OMIM:263300
Diencephalic Syndrome	Cachexia, Hydrocephalus, Long penis, Optic atrophy, Decreased body weight	ORPHA:1672
D-Glyceric Aciduria	Optic nerve hypoplasia, Nonketotic hyperglycinemia, Gastroesophageal reflux, Bradycardia, Micrope...	OMIM:220120
Complete Atrioventricular Septal Defect	Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ...	ORPHA:1329
Marburg Hemorrhagic Fever	Elevated circulating creatine kinase concentration, Odynophagia, Leukopenia, Hypoalbuminemia, Abn...	ORPHA:99826
Mpi-Cdg	Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Hypoalbuminemia, Protein-losing e...	ORPHA:79319
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Occipital encephalocele, Hydrocephalus, Retinal dysplasia, Congenital muscular dystrophy, Ventric...	ORPHA:324416
Autoinflammation With Infantile Enterocolitis	Villous atrophy, Pancytopenia, Elevated circulating C-reactive protein concentration, Diffuse alv...	OMIM:616050
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Elevated circulat...	ORPHA:228308
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hepatomegaly, Tachycardia, Large for gestational age, Decreased circulating free fatty acid level...	ORPHA:276575
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Congestive heart failure, Hydrocep...	ORPHA:163596
Cystic Echinococcosis	Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Hepatic cysts, Eosin...	ORPHA:400
Bohring-Opitz Syndrome	Ventriculomegaly, Retinal atrophy, Facial hypotonia, Cardiomegaly, Optic atrophy, Bilateral wrist...	ORPHA:97297
Oculoskeletodental Syndrome	Hepatomegaly, Small for gestational age, Hypercalcemia, Splenomegaly, Cryptorchidism, Elbow flexi...	OMIM:618440
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Failure to thrive, Bradycardia, Joint contracture of the 5th finger, Atrioventricular block	OMIM:614407
Bartter Syndrome, Type 5, Antenatal, Transient	Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia	OMIM:300971
Alg1-Cdg	Abnormality of the gastrointestinal tract, Abnormal heart morphology, Cardiomyopathy, Hypoalbumin...	ORPHA:79327
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Normal pressure hydrocephalus, Ventriculomegaly	OMIM:611808
Diabetic Embryopathy	Ventricular septal defect, Abnormality of the pancreas, Cryptorchidism, Hydrocephalus, Aplasia/Hy...	ORPHA:1926
Neuraminidase Deficiency	Hepatomegaly, Skeletal muscle atrophy, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Vacuol...	OMIM:256550
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Fused labia majora, Ambiguous genitalia, female, Abnormal ovarian physiology, Hyponatremia, Hypog...	ORPHA:90794
Multiple Myeloma	Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Functional abnormalit...	ORPHA:29073
Familial Atrial Myxoma	Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Pulmonic valve myxoma, Cardiac m...	ORPHA:615
Proximal Spinal Muscular Atrophy	Skeletal muscle atrophy, Multiple joint contractures, Quadriceps muscle weakness, Flexion contrac...	ORPHA:70
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Elevated circulating creatine kinase concentration, Cardiomegaly, Increased muscle lipid content,...	OMIM:608836
Diamond-Blackfan Anemia 3	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia	OMIM:610629
Genitopalatocardiac Syndrome	Hypospadias, Congenital diaphragmatic hernia, Cryptorchidism, Abnormal mesentery morphology, Abno...	ORPHA:2075
Carney Complex	Neoplasm of the stomach, Hepatocellular carcinoma, Increased body weight, Leydig cell neoplasia, ...	ORPHA:1359
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal	Joint contracture, Optic atrophy, Bradycardia, Limb hypertonia	OMIM:614498
Trisomy 20P	Hypospadias, Camptodactyly of finger, Spina bifida, Cryptorchidism, Ectopic anus, Macroorchidism	ORPHA:261318
Hec Syndrome	Communicating hydrocephalus, Abnormal retinal vascular morphology, Vaginal hydrocele, Cardiomyopa...	ORPHA:2119
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Elbow flexion contracture, Hydrocephalus, Optic atrophy	OMIM:619470
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Encephalocele, Retinal detachment, Skeletal muscle atrophy, Elevated circulating creatine kinase ...	OMIM:253800
Illum Syndrome	Calcinosis, Arthrogryposis multiplex congenita, Bradycardia	OMIM:208155
3C Syndrome	Hypoplasia of penis, High, narrow palate, Gastroesophageal reflux, Abnormal tricuspid valve morph...	ORPHA:7
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Abnormal EKG, Scapular winging, Proximal muscle weakness in upper limbs, Elevated circulating cre...	ORPHA:268
Progressive Familial Heart Block, Type Ib	Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ...	OMIM:604559
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Distal lower limb amyotrophy, Hand muscle weakness, Quadriceps muscle weakness, Hydrocephalus, Fl...	ORPHA:99947
Eosinophilic Gastroenteritis	Abnormality of the gastrointestinal tract, Eosinophilia, Elevated circulating C-reactive protein ...	ORPHA:2070
Autoinflammatory Disease, Familial, Behcet-Like 3	Vaginal mucosal ulceration, Ileitis	OMIM:618287
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Hydrocephalus	ORPHA:1008
Fryns Syndrome	Dandy-Walker malformation, Ventriculomegaly, Aganglionic megacolon, Intestinal malrotation, Hypos...	ORPHA:2059
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Bicuspid aortic valve, Parachute mitral valve, Asplenia, Atrial septal defect, Atrioventricular c...	OMIM:265380
Congenital Fibrinogen Deficiency	Decreased testicular size, Tachycardia, Hemorrhagic ovarian cyst, Splenic rupture, Micropenis, Le...	ORPHA:335
Developmental And Epileptic Encephalopathy 101	Limb joint contracture, Third degree atrioventricular block, Gastroesophageal reflux, Bradycardia	OMIM:619814
Hypothyroidism Due To Tsh Receptor Mutations	Thyroid hypoplasia, Increased circulating thyroglobulin level, Macroglossia, Bradycardia, Prolong...	ORPHA:90673
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Reduced ci...	ORPHA:2235
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Hepatomegaly, Facial hypotonia, Elevated circulating creatine kinase concentration, Cardiomegaly,...	ORPHA:308552
Muscle-Eye-Brain Disease	Elevated circulating creatine kinase concentration, Hydrocephalus, Meningocele, Optic atrophy, My...	ORPHA:588
Combined Oxidative Phosphorylation Deficiency 33	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:617713
Histiocytoid Cardiomyopathy	Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Atrial fibrillation, V...	ORPHA:137675
2,4-Dienoyl-Coa Reductase Deficiency	Ventriculomegaly, Hydrocephalus, Optic atrophy, Increased CSF lactate, Colpocephaly, Increased CS...	OMIM:616034
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Ventricular septal defect, Intestinal atresia, Abnormal tricuspid valve morphology, Anemia, Duode...	ORPHA:3405
Congenital Bile Acid Synthesis Defect Type 3	Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala...	ORPHA:79302
Mosaic Variegated Aneuploidy Syndrome 1	Bifid scrotum, Ambiguous genitalia, Ventriculomegaly, Small for gestational age, Hypospadias, Cry...	OMIM:257300
Sickle Cell Disease	Hepatomegaly, Hemolytic anemia, Cardiomegaly, Splenomegaly, Jaundice, Leukocytosis, Splenic infar...	OMIM:603903
Emanuel Syndrome	Dandy-Walker malformation, Ventriculomegaly, Truncus arteriosus, Intestinal malrotation, Ventricu...	OMIM:609029
Congenital Contractural Arachnodactyly	Intestinal malrotation, Camptodactyly of finger, Flexion contracture, Tracheoesophageal fistula, ...	ORPHA:115
Hydrocephalus, Autosomal Dominant	Hydrocephalus, Dandy-Walker malformation	OMIM:123155
Ritscher-Schinzel Syndrome 1	Dandy-Walker malformation, Ventricular septal defect, Decreased response to growth hormone stimul...	OMIM:220210
Lujo Hemorrhagic Fever	Shock, Elevated hepatic transaminase, Elevated circulating C-reactive protein concentration, Myoc...	ORPHA:319213
Hsd10 Disease, Infantile Type	Cardiomegaly, Gastrointestinal dysmotility, Optic atrophy, Hyperammonemia, Increased CSF lactate,...	ORPHA:391428
Carnitine Palmitoyltransferase Ii Deficiency	Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit...	ORPHA:157
Fanconi Anemia, Complementation Group W	Ventriculomegaly, Decreased response to growth hormone stimulation test, Polysplenia, Duodenal at...	OMIM:617784
Gracile Bone Dysplasia	Asplenia, Hydrocephalus, Micropenis, Hypocalcemia, Hypoplastic spleen, Failure to thrive, Ankylog...	OMIM:602361
Holoprosencephaly 5	Syntelencephaly, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Lateral ventri...	OMIM:609637
Omphalocele-Cleft Palate Syndrome, Lethal	Hydrocephalus, Bicornuate uterus, Bifid uvula, Cleft palate	OMIM:258320
Abetalipoproteinemia	Decreased HDL cholesterol concentration, Cardiomegaly, Hypoalbuminemia, Hepatic fibrosis, Hypocho...	ORPHA:14
Congenital Heart Defects, Multiple Types, 3	Tachycardia, Atrial fibrillation, Atrioventricular block, Abnormal heart morphology, Right bundle...	OMIM:614954
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Hepatomegaly, Tachycardia, Large for gestational age, Syncope, Palpitations, Diffuse pancreatic i...	ORPHA:276580
Pontocerebellar Hypoplasia, Type 15	Thrombocytopenia, Hydrocephalus, Chronic neutropenia, Anemia	OMIM:619302
Central Precocious Puberty In Male	Pituitary microadenoma, Hydrocephalus, Abnormality of the testis size, Precocious puberty in males	ORPHA:649929
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Mitral regurgitation, Abnormal cardiac septum morphology, Ventricular septal defect, Hydrocephalus	ORPHA:83473
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10	Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri...	OMIM:610193
Osteopetrosis, Autosomal Recessive 1	Hepatomegaly, Pancytopenia, Facial palsy, Splenomegaly, Thrombocytopenia, Hydrocephalus, Optic at...	OMIM:259700
Nephronophthisis 18	Retinitis, Hydrocephalus, Cholestasis, Hypertension, Portal fibrosis	OMIM:615862
Peripartum Cardiomyopathy	Ventricular tachycardia, Left bundle branch block, Right ventricular dilatation, Abnormal T-wave,...	ORPHA:563
Axial Mesodermal Dysplasia Spectrum	Congenital diaphragmatic hernia, Abnormality of the spleen, Hydrocephalus, Anorectal anomaly, Tra...	ORPHA:1834
Naxos Disease	Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ...	OMIM:601214
Congenital Sialidosis Type 2	Hypoplasia of the fovea, Abnormal EKG, Hepatomegaly, Protruding tongue, Hydrocephalus, Optic atro...	ORPHA:93400
Linear Skin Defects With Multiple Congenital Anomalies 1	Atrial septal defect, Clitoral hypertrophy, Overriding aorta, Ventricular septal defect, Hypospad...	OMIM:309801
Thoraco-Abdominal Enteric Duplication	Hepatomegaly, Dextrocardia, Intestinal malrotation, Camptodactyly of finger, Meningocele, Duodena...	ORPHA:1759
Osteootohepatoenteric Syndrome	Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Microvesicular hep...	OMIM:619377
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome	Macroorchidism, Elevated circulating growth hormone concentration	ORPHA:85327
Arterial Calcification, Generalized, Of Infancy, 2	Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Congestive heart failure, Hypertens...	OMIM:614473
Chylomicron Retention Disease	Elevated hepatic transaminase, Hepatic steatosis, Hypertriglyceridemia, Hypocholesterolemia, Acan...	ORPHA:71
Sheehan Syndrome	Hyponatremia, Dyspareunia, Orthostatic hypotension, Decreased female libido, Reduced circulating ...	ORPHA:91355
Spastic Paraplegia-Precocious Puberty Syndrome	Hyperplasia of the Leydig cells, Precocious puberty in males	ORPHA:2826
Craniofacial Dyssynostosis With Short Stature	Ventricular septal defect, Hypospadias, Pyloric stenosis, Hydrocephalus, Cryptorchidism, Ventricu...	OMIM:218350
Stromme Syndrome	Accessory spleen, Jejunal atresia, Optic nerve hypoplasia, Intestinal malrotation, Hydrocephalus,...	OMIM:243605
Pseudo-Torch Syndrome 3	Cerebral hemorrhage, Cardiomegaly, Increased circulating ferritin concentration, Lymphadenitis, L...	OMIM:618886
Bile Acid Synthesis Defect, Congenital, 4	Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Elevated circulating aspartate...	OMIM:214950
Myopathy, Centronuclear, X-Linked	Elevated hepatic transaminase, Facial palsy, Pyloric stenosis, Hydrocephalus, Cryptorchidism, Fle...	OMIM:310400
Neurodegeneration And Seizures Due To Copper Transport Defect	Tricuspid regurgitation, Cardiomegaly, Glandular hypospadias, Abnormal circulating ceruloplasmin ...	OMIM:620306
Lissencephaly Syndrome, Norman-Roberts Type	Abnormal retinal morphology, Dysphagia, Atrial septal defect, Hypoplastic spleen, Patent foramen ...	ORPHA:89844
Peroxisome Biogenesis Disorder 12A (Zellweger)	Elevated hepatic transaminase, Abnormality of the male genitalia, Hydrocephalus, Hyperbilirubinem...	OMIM:614886
Temple Syndrome	Small for gestational age, Decreased response to growth hormone stimulation test, Precocious pube...	ORPHA:254516
Meckel Syndrome, Type 3	Hepatomegaly, Occipital encephalocele, Malformation of the hepatic ductal plate, Hydrocephalus, C...	OMIM:607361
Pentalogy Of Cantrell	Encephalocele, Absent gallbladder, Ventricular septal defect, Abnormal pericardium morphology, Hy...	ORPHA:1335
Pearson Syndrome	Decreased response to growth hormone stimulation test, Abnormality of the liver, Hypocalcemia, Ne...	ORPHA:699
Biemond Syndrome Type 2	Hypogonadotropic hypogonadism, Hypospadias, Hydrocephalus, Obesity, Hypogonadism	ORPHA:141333
Congenital Enterocyte Heparan Sulfate Deficiency	Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, We...	ORPHA:103910
Cardiomyopathy, Familial Hypertrophic, 11	Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi...	OMIM:612098
H Syndrome	Hypertriglyceridemia, Malabsorption, Microcytic anemia, Hydrocephalus, Abnormal cardiovascular sy...	ORPHA:168569
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Skeletal muscle atrophy, Tachycardia, Elevated circulating creatine kinase concentration, Glycoge...	ORPHA:368
Familial Idiopathic Dilatation Of The Right Atrium	Hepatomegaly, Abnormal cardiac ventricular function, Tricuspid regurgitation, Paroxysmal atrial f...	ORPHA:1677
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Hypochloremia, Hypokalemia, Failure to thrive	OMIM:613090
Long Qt Syndrome 9	Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a...	OMIM:611818
Narcolepsy 3	Narcolepsy	OMIM:609039
Mucopolysaccharidosis, Type Ii	Papilledema, Abnormality of retinal pigmentation, Hepatomegaly, Intestinal pseudo-obstruction, Ab...	OMIM:309900
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Flexion contracture, Leukopenia, Hypoalbuminemia, Atrial septal defect, Patent foramen ovale, Tri...	ORPHA:505248
Congenital Bile Acid Synthesis Defect Type 2	Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Extramedullary hematopoiesis, ...	ORPHA:79303
Methylcobalamin Deficiency Type Cble	Hypomethioninemia, Macrocytic anemia, Pancytopenia, Hydrocephalus, Hyperhomocystinemia, Hypertens...	ORPHA:2169
Emanuel Syndrome	Multiple joint contractures, Congenital diaphragmatic hernia, Gastroesophageal reflux, High palat...	ORPHA:96170
Pericardial And Diaphragmatic Defect	Bicuspid aortic valve, Intestinal malrotation, Congenital diaphragmatic hernia, Tetralogy of Fall...	ORPHA:2847
Kallmann Syndrome With Spastic Paraplegia	Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Decreased ...	OMIM:308750
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Angina pectoris, Elevated circulating creatine kinase concentration, Splenomegaly, ...	ORPHA:565612
Bartter Syndrome, Type 1, Antenatal	Hyperchloriduria, Hyperparathyroidism, Increased serum prostaglandin E2, Hypercalcemia, Small for...	OMIM:601678
Infant Acute Respiratory Distress Syndrome	Tachycardia, Bradycardia, Cardiac arrest, Hypotension	ORPHA:70587
Neurooculocardiogenitourinary Syndrome	Tricuspid regurgitation, Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Atria...	OMIM:618652
Congenital Alveolar Capillary Dysplasia	Absent gallbladder, Aganglionic megacolon, Intestinal malrotation, Bicuspid aortic valve, Ventric...	ORPHA:210122
Short Qt Syndrome 2	Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul...	OMIM:609621
Fryns Syndrome	Bifid scrotum, Ectopic pancreatic tissue, Large for gestational age, Atrial septal defect, Dandy-...	OMIM:229850
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Cryptorchidism, Hypertrophic cardiomyopathy, Hydrocephalus, Pulmonic stenosis	ORPHA:2701
Double Outlet Right Ventricle	Hypoparathyroidism, Tachycardia, Failure to thrive, Ventricular septal defect, Intestinal malrota...	ORPHA:3426
Brugada Syndrome	Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment...	ORPHA:130
Histiocytosis-Lymphadenopathy Plus Syndrome	Decreased response to growth hormone stimulation test, Cardiomegaly, Joint contracture of the 5th...	OMIM:602782
Alobar Holoprosencephaly	Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end...	ORPHA:93926
Lobar Holoprosencephaly	Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end...	ORPHA:93924
Semilobar Holoprosencephaly	Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end...	ORPHA:220386
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Abnormality of retinal pigmentation, Hydrocephalus, Bicuspid aortic valve	ORPHA:397951
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Ventriculomegaly, Hydrocephalus, Chorioretinal coloboma, Dysphagia, Meckel diverticulum, Dandy-Wa...	ORPHA:163961
Stormorken Syndrome	Howell-Jolly bodies, Epistaxis, Elevated circulating creatine kinase concentration, Subarachnoid ...	OMIM:185070
Lowry-Maclean Syndrome	Hypospadias, Congenital diaphragmatic hernia, Bilateral cryptorchidism, Midgut malrotation, High,...	ORPHA:2409
Congenital Disorder Of Glycosylation, Type Im	Failure to thrive, Dilated cardiomyopathy, Bradycardia, Increased circulating free fatty acid level	OMIM:610768
Long Qt Syndrome 5	Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven...	OMIM:613695
Masa Syndrome	Hydrocephalus, Ventriculomegaly	OMIM:303350
Proteus Syndrome	Abnormality of retinal pigmentation, Thymus hyperplasia, Decreased muscle mass, Myofibrillar myop...	ORPHA:744
Myotonic Dystrophy 2	Tachycardia, Elevated circulating creatine kinase concentration, Premature ventricular contractio...	OMIM:602668
Chylomicron Retention Disease	Failure to thrive, Accumulation of lipid droplets in small-bowel enterocytes, Decreased LDL chole...	OMIM:246700
Snakebite Envenomation	Hyponatremia, Tachycardia, Epistaxis, Myocardial infarction, Rhabdomyolysis, Neuromuscular dyspha...	ORPHA:449285
Yellow Fever	Shock, Acute pancreatitis, Neutrophilia, Elevated circulating creatine kinase concentration, Supr...	ORPHA:99829
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Tachycardia, Ventricular septal defect, Flexion contracture, Retinal hemorrhage, Hypertension, Hi...	OMIM:614653
Atrial Fibrillation, Familial, 7	Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad...	OMIM:612240
Sandhoff Disease	Hepatomegaly, Orthostatic hypotension, Skeletal muscle atrophy, Cardiomegaly, Hepatosplenomegaly,...	OMIM:268800
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Retinal detachment, Occipital encephalocele, Retinal atrophy, Ventriculomegaly, Optic nerve hypop...	OMIM:236670
Parenteral Nutrition-Associated Cholestasis	Elevated hepatic transaminase, Hepatomegaly, Villous atrophy, Small for gestational age, Portal h...	ORPHA:567983
Long Qt Syndrome 8	Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int...	OMIM:618447
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Leukemia, Ventricular septal defect, Hydrocephalus, Ventriculomegaly	OMIM:602501
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Aortic regurgitation, Retinal detachment, Optic disc pallor, Flexion contracture of finger, Ventr...	ORPHA:464311
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Cryptorchidism, Hydrocephalus, Hypoplastic female external genitalia, Ventriculomegaly	OMIM:618577
Bresek Syndrome	Aganglionic megacolon, Optic nerve hypoplasia, Cryptorchidism, Hydrocephalus, Cleft palate, Decre...	ORPHA:85284
Sick Sinus Syndrome 4	Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation...	OMIM:619464
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Ventricular septal defect, Protruding tongue, Cryptorchidism, Hydrocephalus, Cleft palate, Hypert...	OMIM:612938
Isolated Biliary Atresia	Elevated hepatic transaminase, Hepatomegaly, Hypopituitarism, Small for gestational age, Conjugat...	ORPHA:30391
Fg Syndrome Type 1	Ventriculomegaly, Hypospadias, Optic nerve hypoplasia, Abnormal large intestine morphology, Progr...	ORPHA:93932
Gómez-López-Hernández Syndrome	Hydrocephalus	ORPHA:1532
Fanconi Anemia, Complementation Group F	Decreased response to growth hormone stimulation test, Thrombocytopenia, Cryptorchidism, Leukopen...	OMIM:603467
Dandy-Walker Malformation With Postaxial Polydactyly	Dilated fourth ventricle, Hydrocephalus, Chorioretinal atrophy, Aortic valve stenosis, Dandy-Walk...	OMIM:220220
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Cachexia, Malabsorption, Xerostomia, Hematochezia, Hamartomatous polyposis, Hypokalemia, Protein-...	OMIM:175500
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Retinal dystrophy, Optic nerve hypoplasia, Cleft soft palate, Intestinal malrotation, Leukocytosi...	OMIM:619321
Meckel Syndrome, Type 4	Encephalocele, Ventricular septal defect, Hydrocephalus, Meningocele, Anencephaly, Cleft palate, ...	OMIM:611134
Intellectual Developmental Disorder, Autosomal Dominant 70	Hyponatremia, Retinal detachment, Optic nerve hypoplasia, Retinal telangiectasia, Hydrocephalus, ...	OMIM:620157
Dandy-Walker Syndrome	Dilated fourth ventricle, Hydrocephalus	OMIM:220200
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Hypoplasia of penis, Ventricular septal defect, Hypospadias, Esophageal atresia, Cryptorchidism, ...	ORPHA:77298
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Ectopic posterior pituitary, Hypogonadotropic hypogonadism, Optic nerve hypoplasia, Decreased res...	ORPHA:226307
Progressive Familial Heart Block, Type Ii	Sudden cardiac death, Atrioventricular block, Complete heart block with narrow QRS complexes, Sin...	OMIM:140400
Cardiac-Urogenital Syndrome	Bifid scrotum, Congenital diaphragmatic hernia, Scimitar anomaly, Atrial septal defect, Micropeni...	OMIM:618280
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Splenomega...	ORPHA:3202
Bartter Syndrome Type 4	Hyponatremia, Small for gestational age, Hypochloremia, Hypertension, Hypokalemia, Increased circ...	ORPHA:89938
Isolated Right Ventricular Hypoplasia	Tricuspid regurgitation, Abnormal atrioventricular conduction, Right ventricular failure, Cardiom...	ORPHA:439
Mosaic Variegated Aneuploidy Syndrome	Aortic regurgitation, Intestinal polyposis, Ambiguous genitalia, Ventriculomegaly, Vaginal neopla...	ORPHA:1052
Holoprosencephaly	Hypoplasia of penis, Congenital diaphragmatic hernia, Abnormality of the spleen, Gastroesophageal...	ORPHA:2162
Osteopetrosis, Autosomal Recessive 5	Optic disc pallor, Hepatomegaly, Extramedullary hematopoiesis, Pancytopenia, Ventriculomegaly, Fa...	OMIM:259720
Williams-Beuren Region Duplication Syndrome	Small for gestational age, Decreased response to growth hormone stimulation test, Cryptorchidism,...	OMIM:609757
Juvenile Polyposis Of Infancy	Gastrointestinal hemorrhage, Refractory anemia, Cachexia, High, narrow palate, Rectal prolapse, A...	ORPHA:79076
Albers-Schönberg Osteopetrosis	Abnormal leukocyte morphology, Facial palsy, Hydrocephalus, Optic atrophy, Hypocalcemia, Anemia	ORPHA:53
Microform Holoprosencephaly	Hypoplasia of penis, Cleft palate, Holoprosencephaly, Ambiguous genitalia, EMG: myopathic abnorma...	ORPHA:280200
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Elevated circulating creatine kinase concentration, Hydrocephalus, Flexion contracture, Muscular ...	OMIM:615249
Kleeblattschaedel	Hydrocephalus	OMIM:148800
Sick Sinus Syndrome 1	Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br...	OMIM:608567
Mucopolysaccharidosis Type 1	Abnormal heart valve morphology, Abnormality of the tonsils, Malabsorption, Congestive heart fail...	ORPHA:579
Gaucher Disease, Type Iiic	Hepatomegaly, Mitral valve calcification, Pancytopenia, Cardiomegaly, Aortic valve calcification,...	OMIM:231005
Trisomy 1Q	Ventriculomegaly, Small scrotum, Ventricular septal defect, Camptodactyly of finger, Congenital d...	ORPHA:261344
Testicular Regression Syndrome	Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male...	ORPHA:983
Craniotelencephalic Dysplasia	Septo-optic dysplasia, Frontal encephalocele, Optic atrophy, Hydrocephalus	ORPHA:1528
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Occipital encephalocele, Hydrocephalus, Optic atrophy	ORPHA:352682
Krabbe Disease	Autoimmune thrombocytopenia, Hydrocephalus, Optic atrophy, Failure to thrive, Increased CSF prote...	OMIM:245200
Heterotaxy, Visceral, 5, Autosomal	Atrial reentry tachycardia, Right atrial isomerism, Ventricular septal defect, Intestinal malrota...	OMIM:270100
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Hypospadias, Cryptorchidism, Hydrocephalus, Obesity, Micropenis	ORPHA:171839
Combined Oxidative Phosphorylation Deficiency 41	Elevated circulating creatine kinase concentration, Anemia, Cardiomegaly	OMIM:618838
Congenital Tufting Enteropathy	Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor...	ORPHA:92050
Mucopolysaccharidosis, Type Iiib	Splenomegaly, Hepatomegaly, Cardiomegaly, Asymmetric septal hypertrophy	OMIM:252920
Feingold Syndrome 1	Accessory spleen, Jejunal atresia, Tricuspid stenosis, Ventricular septal defect, Asplenia, Esoph...	OMIM:164280
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity	Aortic valve stenosis, Bicuspid aortic valve, Hydrocephalus	OMIM:615599
Congenital Tricuspid Valve Dysplasia	Hepatomegaly, Tricuspid regurgitation, Small for gestational age, Cardiomegaly, Pericardial effus...	ORPHA:555874
Cardiac Arrhythmia, Ankyrin-B-Related	Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope	OMIM:600919
Adams-Oliver Syndrome	Gastrointestinal hemorrhage, Encephalocele, Failure to thrive, Abnormal pulmonary valve morpholog...	ORPHA:974
Systemic Sclerosis	Elevated circulating creatine kinase concentration, Flexion contracture, Intestinal bleeding, Gas...	ORPHA:90291
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Hypomethioninemia, Pulmonary embolism, Megaloblastic anemia, Hyperhomocystinemia, Neutropenia, Re...	ORPHA:79282
Meckel Syndrome	Asplenia, Dandy-Walker malformation, Accessory spleen, Encephalocele, Abnormal chorioretinal morp...	ORPHA:564
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Cardiomegaly, Diffuse alveolar hemorrhage, Heart murmur, Hepatosplenomegaly, Iron d...	ORPHA:99931
Craniofaciofrontodigital Syndrome	Gastrointestinal hemorrhage, Persistent fetal circulation, Bicuspid aortic valve, Ventricular sep...	ORPHA:363705
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Decreased ...	OMIM:308700
Microphthalmia, Syndromic 9	Ventricular septal defect, Congenital diaphragmatic hernia, Cryptorchidism, Hypoplastic left atri...	OMIM:601186
49,Xxxyy Syndrome	Eunuchoid habitus, External genital hypoplasia, Abnormality of the testis size, Increased circula...	ORPHA:261534
Dyrk1A-Related Intellectual Disability Syndrome	Aortic regurgitation, Optic disc pallor, Multiple joint contractures, Ventricular septal defect, ...	ORPHA:464306
Jacobsen Syndrome	Ventricular septal defect, Hypospadias, Pyloric stenosis, Cryptorchidism, Hydrocephalus, Optic at...	OMIM:147791
Glossopharyngeal Neuralgia	Oral-pharyngeal dysphagia, Odynophagia, Jaw claudication, Weight loss, Syncope, Bradycardia	ORPHA:221098
Cortical Dysplasia, Complex, With Other Brain Malformations 9	Hydrocephalus, Optic atrophy	OMIM:618174
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Pericardial lymphangiectasia, Ventricular septal defect, Thyroid lymphangiectasia, Pericardial ef...	OMIM:235510
Plasminogen Deficiency, Type I	Duodenal ulcer, Hydrocephalus, Decreased level of plasminogen, Dandy-Walker malformation, Ventric...	OMIM:217090
Acalvaria	Hydrocephalus, Spina bifida, Holoprosencephaly, Cleft palate	ORPHA:945
Feingold Syndrome	Esophageal atresia, Abnormality of the spleen, Annular pancreas, Duodenal atresia	ORPHA:1305
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Small for gestational age, Ventricular septal defect, Hypospadias, Cardiomegaly, Flexion contract...	OMIM:616897
Microphthalmia With Linear Skin Defects Syndrome	Chorioretinal dysplasia, Congenital diaphragmatic hernia, Epispadias, Vitritis, Retinal dysplasia...	ORPHA:2556
Bartter Syndrome, Type 2, Antenatal	Hyperchloriduria, Increased serum prostaglandin E2, Small for gestational age, Low-to-normal bloo...	OMIM:241200
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Retinal dystrophy, Elevated circulating creatine kinase concentration, Hydrocephalus, Muscular dy...	OMIM:616538
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Tachycardia, Rhabdomyolysis, Weight loss, Hypokalemia, Palpitations, Goiter	OMIM:188580
Intellectual Developmental Disorder, Autosomal Dominant 53	Ventricular septal defect, Intestinal malrotation, Cryptorchidism, Gastrointestinal dysmotility, ...	OMIM:617798
Hurler Syndrome	Aortic regurgitation, Hepatomegaly, Splenomegaly, Hydrocephalus, Flexion contracture, Enlarged to...	OMIM:607014
Abetalipoproteinemia	Abetalipoproteinemia, Acanthocytosis, Fat malabsorption, Retinopathy, Retinal degeneration	OMIM:200100
Band Heterotopia	Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation	OMIM:600348
Mogs-Cdg	Hepatomegaly, External genital hypoplasia, Cardiomegaly, Optic atrophy, Hepatosplenomegaly, Hydro...	ORPHA:79330
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis	Hydrocephalus	OMIM:236660
Corpus Callosum, Partial Agenesis Of, X-Linked	High palate, Hydrocephalus, Aganglionic megacolon, Ventriculomegaly	OMIM:304100
Malignant Hyperthermia, Susceptibility To, 1	Tachycardia, Elevated circulating creatine kinase concentration, Rhabdomyolysis, Hyperkalemia, Hy...	OMIM:145600
Proteus-Like Syndrome	Communicating hydrocephalus, Retinal detachment, Thymus hyperplasia, Splenomegaly, Abnormality of...	ORPHA:2969
Joubert Syndrome With Hepatic Defect	Elevated hepatic transaminase, Hepatomegaly, Occipital encephalocele, Portal hypertension, Spleno...	ORPHA:1454
Drug-Induced Autoimmune Hemolytic Anemia	Tachycardia, Autoimmune hemolytic anemia, Splenomegaly, Congestive heart failure, Increased total...	ORPHA:90037
Osteopetrosis, Autosomal Recessive 2	Pancytopenia, Extramedullary hematopoiesis, Hydrocephalus, Optic atrophy, Hepatosplenomegaly, Ane...	OMIM:259710
Pseudotrisomy 13 Syndrome	Encephalocele, Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, C...	OMIM:264480
Immunodeficiency 82 With Systemic Inflammation	Villous atrophy, Decreased proportion of naive T cells, Duodenal ulcer, Gastritis, Elevated circu...	OMIM:619381
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Cleft soft palate, Precocious puberty, High, narrow palate, Cleft palate, Gastroesophageal reflux...	OMIM:619950
Hydrocephalus, Congenital, 3, With Brain Anomalies	Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Hydranencephaly, Dandy-Walker malformation	OMIM:617967
Duodenal Ulcer Due To Antral G-Cell Hyperfunction	Hyperpepsinogenemia I, Duodenal ulcer	OMIM:126840
Maternal Uniparental Disomy Of Chromosome 4	Decreased body weight, Calf muscle pseudohypertrophy, Abetalipoproteinemia, Elevated circulating ...	ORPHA:96180
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Retinal detachment, Hydrocephalus, Optic atrophy, Colpocephaly, Distal arthrogryposis, High palat...	OMIM:619833
Immunodeficiency 87 And Autoimmunity	Atrophic gastritis, Villous atrophy, Elevated circulating C-reactive protein concentration, Atria...	OMIM:619573
Esophageal Atresia	Barrett esophagus, Ventricular septal defect, Intestinal malrotation, Small for gestational age, ...	ORPHA:1199
Multiple Sulfatase Deficiency	Hepatomegaly, Ventriculomegaly, Splenomegaly, Hydrocephalus, Increased CSF protein concentration,...	OMIM:272200
Optic Pathway Glioma	Precocious puberty, Papilledema, Hydrocephalus, Optic atrophy	ORPHA:2086
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Skeletal muscle atrophy, Ventricular septal defect, Hydrocephalus, Knee flexion contracture, Mitr...	OMIM:603387
Gaucher Disease	Elevated circulating C-reactive protein concentration, Cherry red spot of the macula, Hepatomegal...	ORPHA:355
Hurler Syndrome	Hepatomegaly, Angina pectoris, Abnormal heart valve morphology, Abnormality of the tonsils, Campt...	ORPHA:93473
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Bifid scrotum, Abnormality of the pancreas, Cryptorchidism, Hydrocephalus, Optic atrophy, Cleft p...	ORPHA:1555
Axenfeld-Rieger Syndrome, Type 2	Anal stenosis, Hypospadias, Cryptorchidism, Hydrocephalus, Abnormal heart morphology	OMIM:601499
Malignant Hyperthermia Of Anesthesia	Acute hepatic failure, Exercise-induced rhabdomyolysis, Acute rhabdomyolysis, High-output congest...	ORPHA:423
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Ventricular hypertrophy, Hepatomegaly, Hemolytic anemia, Reticulocytosis, Anisocytosis, Cardiomeg...	OMIM:618278
Cat Eye Syndrome	Anal stenosis, Ventricular septal defect, Intestinal malrotation, Rectal fistula, Rectal atresia,...	OMIM:115470
Duodenal Atresia	Abnormality of the pancreas, Annular pancreas, Duodenal atresia	ORPHA:1203
Czeizel-Losonci Syndrome	Posterolateral diaphragmatic hernia, Dextrocardia, Spina bifida, Myelomeningocele, Hydrocephalus,...	ORPHA:2437
Lissencephaly 5	Occipital encephalocele, Hydrocephalus, Optic atrophy	OMIM:615191
Monosomy 18Q	Left-to-right shunt, Absence of the pulmonary valve, Abnormal retinal morphology, Secundum atrial...	ORPHA:1600
Alexander Disease Type I	Hydrocephalus, Failure to thrive, Cachexia, Dysphagia	ORPHA:363717
Jacobsen Syndrome	Ventriculomegaly, Ventricular septal defect, Intestinal malrotation, Spina bifida, Pyloric stenos...	ORPHA:2308
Mucopolysaccharidosis Type 3	Hepatomegaly, Ventriculomegaly, Malabsorption, Cardiomegaly, Splenomegaly, Adenoiditis, Recurrent...	ORPHA:581
Aspartylglucosaminuria	Hepatomegaly, Malabsorption, Splenomegaly, Macroglossia, Macroorchidism	ORPHA:93
Biemond Syndrome Ii	Hydrocephalus	OMIM:210350
Alexander Disease	Hydrocephalus, Increased CSF protein concentration	OMIM:203450
Serkal Syndrome	Abnormal penis morphology, Hypospadias, Ventricular septal defect, Congenital diaphragmatic herni...	ORPHA:139466
Holoprosencephaly 13, X-Linked	Septo-optic dysplasia, Ventricular septal defect, Optic nerve hypoplasia, Alobar holoprosencephal...	OMIM:301043
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Hypochloremia, Hypokalemia, Failure to thrive	OMIM:602522
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Encephalocele, Retinal detachment, Ventriculomegaly, Remnants of the hyaloid vascular system, Opt...	OMIM:614643
Zollinger-Ellison Syndrome	Gastrointestinal hemorrhage, Intestinal obstruction, Hyperparathyroidism, Duodenal ulcer, Hyperca...	ORPHA:913
Diarrhea 5, With Tufting Enteropathy, Congenital	Villous atrophy, Failure to thrive, Small for gestational age, Crypt hyperplasia	OMIM:613217
Meckel Syndrome, Type 1	Occipital encephalocele, External genital hypoplasia, Asplenia, Ambiguous genitalia, female, Lobu...	OMIM:249000
Fanconi Anemia	Leukopenia, Abnormality of the liver, High palate, Abnormality of the uterus, Atrial septal defec...	ORPHA:84
Distal Triplication 15Q	Abnormal external genitalia, Large for gestational age, Hydrocephalus, Flexion contracture, Abnor...	ORPHA:314588
Smith-Lemli-Opitz Syndrome	Bifid scrotum, Small scrotum, Gastrointestinal dysmotility, Hypoalbuminemia, Gastroesophageal ref...	OMIM:270400
Glycogen Storage Disease Due To Acid Maltase Deficiency	Hepatomegaly, Transient ischemic attack, Elevated circulating creatine kinase concentration, Glyc...	ORPHA:365
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Communicating hydrocephalus, Occipital encephalocele, Ventriculomegaly, Elevated circulating crea...	OMIM:615287
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Attenuation of retinal blood vessels, Optic disc pallor, Multiple joint contractures, Hypospadias...	ORPHA:468631
Chromosome 6Q24-Q25 Deletion Syndrome	Persistent fetal circulation, Tricuspid regurgitation, High, narrow palate, Hydrocephalus, Submuc...	OMIM:612863
Duodenal Ulcer, Hyperpepsinogenemic I	Hyperpepsinogenemia I, Duodenal ulcer	OMIM:126850
Nk-Cell Enteropathy	Colonic diverticula, Duodenal ulcer, Abnormal gastric mucosa morphology, Increased T cell count, ...	ORPHA:263665
Chromosome 6Pter-P24 Deletion Syndrome	Dandy-Walker malformation, Ventricular septal defect, Hydrocephalus, Telangiectasia, Pigmentary r...	OMIM:612582
Encephalitis Lethargica	Upper limb muscle weakness, Increased CSF protein concentration, Bradycardia	ORPHA:83600
Trisomy 17P	Skeletal muscle atrophy, Hypoplasia of penis, Hydrocephalus, Flexion contracture, Cleft palate, M...	ORPHA:261290
Beck-Fahrner Syndrome	Ventricular septal defect, Facial hypotonia, Cardiomegaly, Extra-axial cerebrospinal fluid accumu...	OMIM:618798
Distal Deletion 12Q	Failure to thrive in infancy, Unilateral cryptorchidism, High, narrow palate, Esophageal atresia,...	ORPHA:96149
Focal Dermal Hypoplasia	Acute hepatic failure, Telangiectasia of the skin, Ventricular septal defect, Spina bifida, Conge...	ORPHA:2092
Autosomal Recessive Polycystic Kidney Disease	Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Protein-losing ente...	ORPHA:731
Visceral Myopathy 2	Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr...	OMIM:619350
Knobloch Syndrome	Retinal detachment, Occipital encephalocele, Dextrocardia, Pyloric stenosis, Hydrocephalus, Abnor...	ORPHA:1571
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Telangiectasia of the skin, Hydrocephalus, Optic atrophy, Cerebral ischemia, Arrhythmia, Failure ...	ORPHA:60040
1Q44 Microdeletion Syndrome	Optic disc hypoplasia, Intestinal malrotation, Hydrocephalus, Abnormal cardiac septum morphology,...	ORPHA:238769
Inflammatory Bowel Disease (Crohn Disease) 30	Gastritis, Duodenitis, Pancolitis, Protein-losing enteropathy, Abnormal intestine morphology, Ile...	OMIM:619079
Glutaric Acidemia I	Hepatomegaly, Hydrocephalus, Lateral ventricle dilatation, Elevated circulating glutaric acid con...	OMIM:231670
Multiple Sulfatase Deficiency	Abnormality of retinal pigmentation, Hepatomegaly, Splenomegaly, Hydrocephalus, Optic atrophy	ORPHA:585
Greig Cephalopolysyndactyly Syndrome	Hydrocephalus, Congenital diaphragmatic hernia	ORPHA:380
Matthew-Wood Syndrome	Congenital diaphragmatic hernia, Cryptorchidism, Aplasia/Hypoplasia of the pancreas, Duodenal ste...	ORPHA:2470
Vitamin K Antagonist Embryofetopathy	Macroglossia, Myelomeningocele, Optic atrophy, Hydrocephalus	ORPHA:1914
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Spontaneous, recurrent epistaxis, Papilledema, Mitral valve calcification, Pancytopenia, Ventricu...	ORPHA:2072
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Ventriculomegaly, Cardiomegaly, Splenomegaly, Thrombocytopenia, Hepatic failure, He...	OMIM:608013
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome	Aplasia of the thymus, Duodenal atresia	ORPHA:3004
Pontocerebellar Hypoplasia, Type 7	Skeletal muscle atrophy, Cryptorchidism, Hydrocephalus, Optic atrophy, High palate, Ambiguous gen...	OMIM:614969
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Absent gallbladder, Ventricular septal defect, Hypospadias, Thrombocytopenia, Cryptorchidism, Hyd...	ORPHA:163979
Miller-Dieker Lissencephaly Syndrome	Cryptorchidism, Cleft palate, Abnormal heart morphology, Joint contracture of the hand, Camptodac...	OMIM:247200
Vacterl Association With Hydrocephalus	Aqueductal stenosis, Hydrocephalus, Anal atresia, Abnormal heart morphology	OMIM:276950
Aminopterin/Methotrexate Embryofetopathy	Encephalocele, Ventricular septal defect, Situs inversus totalis, Hydrocephalus, Meningocele, Ane...	ORPHA:1908
Nasu-Hakola Disease	Hydrocephalus, Ventriculomegaly, Functional abnormality of the gastrointestinal tract, Acute leuk...	ORPHA:2770
Combined Oxidative Phosphorylation Deficiency 39	Flexion contracture, Increased CSF lactate, Sinus bradycardia, Congenital contracture, Arthrogryp...	OMIM:618397
Joubert Syndrome 14	Encephalocele, Ventricular septal defect, Morning glory anomaly, Hydrocephalus, Meningocele, Opti...	OMIM:614424
Hypoplasminogenemia	Cervicitis, Duodenal ulcer, Hydrocephalus, Decreased level of plasminogen, Abnormal fallopian tub...	ORPHA:722
49,Xyyyy Syndrome	Eunuchoid habitus, External genital hypoplasia, Abnormality of the testis size, Increased circula...	ORPHA:99330
Syndromic Diarrhea	Villous atrophy, Bicuspid aortic valve, Abnormality of the liver, Colitis, Hypoplasia of the thym...	ORPHA:84064
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Pericardial effusion, Cryptorchidism, Hematochezia, Hypoalbum...	OMIM:618183
Graft Versus Host Disease	Elevated hepatic transaminase, Skeletal muscle atrophy, Tachycardia, Myositis, Dupuytren contract...	ORPHA:39812
Hypercholanemia, Familial 1	Fat malabsorption, Failure to thrive, Increased serum bile acid concentration, Steatorrhea	OMIM:607748
Desmosterolosis	Ventriculomegaly, Hydrocephalus, Ambiguous genitalia, female, Cleft palate, Joint contracture of ...	OMIM:602398
Biliary, Renal, Neurologic, And Skeletal Syndrome	Anterior pituitary hypoplasia, Conjugated hyperbilirubinemia, Secundum atrial septal defect, Aque...	OMIM:619534
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Ventricular septal defect, Hypospadias, Cryptorchidism, Optic atrophy, Furrowed tongue, High pala...	OMIM:616975
Intellectual Developmental Disorder, Autosomal Recessive 68	Hydrocephalus, Small for gestational age	OMIM:618302
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomegaly, Congestive heart failure, Optic atrophy, Cardiomyopathy, Limb muscle weakness, Incr...	OMIM:619259
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Esophageal atresia, Muscular ventricular septal defect, Submucous cleft hard palate, Tracheoesoph...	OMIM:619227
Hypothyroidism, Congenital, Nongoitrous, 2	Increased circulating thyroglobulin level, Macroglossia, Bradycardia, Ectopic thyroid, Hyperbilir...	OMIM:218700
Aase-Smith Syndrome I	Ventricular septal defect, Hydrocephalus, Flexion contracture, Cleft palate, Dandy-Walker malform...	OMIM:147800
L1 Syndrome	Aqueductal stenosis, Skeletal muscle atrophy, Hydrocephalus, Aganglionic megacolon	ORPHA:275543
Houge-Janssens Syndrome 1	Congenital muscular torticollis, Facial hypotonia, Pyloric stenosis, Hydrocephalus, Ventriculomegaly	OMIM:616355
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis	Hydrocephalus	ORPHA:1516
Frontal Encephalocele	Encephalocele, Hydrocephalus, Spina bifida	ORPHA:1931
Pallister-Hall-Like Syndrome	Occipital encephalocele, Hydrocephalus, Cleft palate, Micropenis, Microglossia, Anterior hypopitu...	OMIM:241800
Charge Syndrome	Decreased response to growth hormone stimulation test, External genital hypoplasia, Secundum atri...	OMIM:214800
Isotretinoin-Like Syndrome	Bicuspid aortic valve, Abnormal cardiac ventricle morphology, Hydrocephalus, Cleft palate, Conotr...	ORPHA:2306
Vascular Hyalinosis	Subarachnoid hemorrhage, Malabsorption, Hematochezia, Protein-losing enteropathy, Chorioretinal scar	OMIM:277175
Coccidioidomycosis	Pericarditis, Abnormal sperm morphology, Abnormal retinal morphology, Eosinophilia, Abnormality o...	ORPHA:228123
Thanatophoric Dysplasia Type 2	Encephalocele, Hydrocephalus, Holoprosencephaly, Atrial septal defect, Ventriculomegaly	ORPHA:93274
Congenital Short Bowel Syndrome	Abnormal peristalsis, Intestinal malrotation, Decreased intestinal transit time, Steatorrhea, Con...	OMIM:615237
Agammaglobulinemia 4, Autosomal Recessive	Neutropenia, Protein-losing enteropathy, Abnormal T cell morphology	OMIM:613502
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Encephalocele, Elevated circulating creatine kinase concentration, Hydrocephalus, Cleft palate, S...	OMIM:613150
Osteopetrosis, Autosomal Recessive 7	Hepatomegaly, Splenomegaly, Hydrocephalus, Optic atrophy, Anemia, Lateral ventricle dilatation, O...	OMIM:612301
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Communicating hydrocephalus, Hydrocephalus, Optic atrophy, Colpocephaly, Macular hypoplasia, Chor...	OMIM:615219
Chronic Diarrhea Due To Glucoamylase Deficiency	Decreased small intestinal mucosa lactase level, Abnormal small intestinal mucosa morphology, Mal...	ORPHA:103907
Lethal Congenital Contracture Syndrome 10	Torticollis, Overriding aorta, Ventricular septal defect, Cardiomegaly, Narrow palate, Macrogloss...	OMIM:617022
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Dextrocardia, Esophageal atresia, Hydrocephalus, Tracheoesophageal fistula, Enlarged kidney, Tran...	OMIM:314390
22Q11.2 Deletion Syndrome	Anorectal anomaly, Gastroesophageal reflux, Hypocalcemia, Hypoplasia of the thymus, Abnormality o...	ORPHA:567
Mosaic Variegated Aneuploidy Syndrome 2	Aortic regurgitation, Ventricular septal defect, Small for gestational age, Decreased response to...	OMIM:614114
Focal Facial Dermal Dysplasia Type Iv	Intracranial hemorrhage, Hydrocephalus, Abnormal mast cell morphology, Cleft palate	ORPHA:398189
Rhombencephalosynapsis	Septo-optic dysplasia, Ventriculomegaly, Aganglionic megacolon, Esophageal atresia, Hydrocephalus...	ORPHA:59315
Desmosterolosis	Intestinal malrotation, Splenomegaly, Hydrocephalus, Submucous cleft hard palate, Anomalous pulmo...	ORPHA:35107
Ectodermal Dysplasia-Syndactyly Syndrome 2	Cardiomegaly	OMIM:613576
Cog8-Cdg	Elevated hepatic transaminase, Skeletal muscle atrophy, Protein-losing enteropathy, Failure to th...	ORPHA:95428
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Camptodactyly of finger, Supernumerary nipple, Secundum atrial septal defect, Cryptorchidism, Hyd...	OMIM:619951
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ...	OMIM:620066
Mucopolysaccharidosis Type 2	Communicating hydrocephalus, Abnormal tricuspid valve morphology, Retinal degeneration, Papillede...	ORPHA:580
Beckwith-Wiedemann Syndrome	Congenital diaphragmatic hernia, Cardiomegaly, Large for gestational age, Leiomyosarcoma, Hepatob...	ORPHA:116
Meckel Syndrome, Type 6	Absent gallbladder, Abnormal internal genitalia, Occipital encephalocele, Hydrocephalus, Anenceph...	OMIM:612284
Proteasome-Associated Autoinflammatory Syndrome 1	Decreased HDL cholesterol concentration, Skeletal muscle atrophy, Elevated circulating C-reactive...	OMIM:256040
Musculocontractural Ehlers-Danlos Syndrome	Retinal detachment, Decreased muscle mass, Abnormal heart valve morphology, Cryptorchidism, Abnor...	ORPHA:2953
Aspartylglucosaminuria	Hepatomegaly, Vacuolated lymphocytes, Macroglossia, Mitral regurgitation, Neutropenia, Macroorchi...	OMIM:208400
Iniencephaly	Encephalocele, Spina bifida, Congenital diaphragmatic hernia, Myelomeningocele, Hydrocephalus, An...	ORPHA:63259
Fanconi Anemia, Complementation Group D2	Pancytopenia, Small for gestational age, Hypergonadotropic hypogonadism, Esophageal atresia, Thro...	OMIM:227646
Immunodeficiency 31C	Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Villous atrophy, Autoim...	OMIM:614162
Ogden Syndrome	Bicuspid aortic valve, Cardiomegaly, Secundum atrial septal defect, Microvesicular hepatic steato...	OMIM:300855
Fucosidosis	Hepatomegaly, Decreased muscle mass, Cardiomegaly, Abnormality of the gallbladder, Failure to thrive	ORPHA:349
Mend Syndrome	Cryptorchidism, Elevated 8-dehydrocholesterol, Elevated 8(9)-cholestenol, Hydrocephalus, Cleft pa...	ORPHA:401973
Radial Aplasia, X-Linked	Hydrocephalus, Penile hypospadias, Anal atresia	OMIM:312190
Spondyloocular Syndrome	Retinal detachment, Duodenal ulcer, Unilateral cryptorchidism, Mitral valve prolapse, Decreased b...	OMIM:605822
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Overweight, Cryptorchidism, Dilated third ventricle, Hydrocephalus, Flexion contracture, Gastroes...	ORPHA:500055
3-Methylglutaconic Aciduria, Type Viii	Jaundice, Dysphagia, Increased CSF lactate, Bradycardia, Neutropenia, Failure to thrive, Ventricu...	OMIM:617248
Hemangioblastoma	Upper limb muscle weakness, Retinal capillary hemangioma, Hydrocephalus, Lower limb muscle weakness	ORPHA:252054
Cantu Syndrome	Bicuspid aortic valve, Large for gestational age, Pericardial effusion, Cardiomegaly, Congenital ...	OMIM:239850
Intellectual Developmental Disorder, Autosomal Dominant 39	Hydrocephalus, Obesity	OMIM:616521
Hydrolethalus	Cryptorchidism, Hydrocephalus, Submucous cleft hard palate, Anencephaly, Cleft palate, Abnormal f...	ORPHA:2189
Alkuraya-Kucinskas Syndrome	Ventriculomegaly, Small scrotum, Pericardial effusion, Hydrocephalus, High palate, Camptodactyly,...	OMIM:617822
Papillary Tumor Of The Pineal Region	Hydrocephalus, Increased CSF protein concentration	ORPHA:251915
Trisomy 8P	Multiple joint contractures, Abnormal atrioventricular connection, Cryptorchidism, Hydrocephalus,...	ORPHA:264450
Short-Rib Thoracic Dysplasia 12	Hepatomegaly, Ventricular septal defect, Intestinal malrotation, Hamartoma of tongue, Splenomegal...	OMIM:269860
Rabin-Pappas Syndrome	Hyponatremia, Retinal detachment, Failure to thrive in infancy, Optic nerve hypoplasia, Retinal t...	OMIM:620155
Feingold Syndrome Type 1	Jejunal atresia, Tricuspid stenosis, Esophageal atresia, Gastrointestinal atresia, Multiple muscu...	ORPHA:391641
Dyssegmental Dysplasia, Silverman-Handmaker Type	Encephalocele, Cryptorchidism, Hydrocephalus, Flexion contracture, Cleft palate, Abnormal heart m...	ORPHA:1865
Opitz-Kaveggia Syndrome	Anal stenosis, Multiple joint contractures, Hypospadias, Intestinal malrotation, Pyloric stenosis...	OMIM:305450
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Aortic regurgitation, High, narrow palate, Hydrocephalus	ORPHA:2181
Joubert Syndrome With Ocular Defect	Encephalocele, Aganglionic megacolon, Retinal dystrophy, Dextrocardia, Hydrocephalus, Cleft palat...	ORPHA:220493
Holoprosencephaly-Postaxial Polydactyly Syndrome	Encephalocele, Hypoplasia of penis, Hypospadias, Intestinal malrotation, Cryptorchidism, Hydrocep...	ORPHA:2166
Double Outlet Left Ventricle	Double outlet left ventricle, Failure to thrive, Ventricular septal defect, Cardiomegaly, Cryptor...	ORPHA:3427
Oculocerebrocutaneous Syndrome	Congenital diaphragmatic hernia, Cryptorchidism, Hydrocephalus, Dandy-Walker malformation, Ventri...	ORPHA:1647
Mucolipidosis Ii Alpha/Beta	Aortic regurgitation, Hepatomegaly, Increased serum beta-hexosaminidase, Diastasis recti, Cardiom...	OMIM:252500
Pancreatic Colipase Deficiency	Megaloblastic anemia, Steatorrhea, Cholelithiasis, Fat malabsorption, Exocrine pancreatic insuffi...	ORPHA:309108
Absence Of The Pulmonary Artery	Abnormal EKG, Atrial flutter, Atrial fibrillation, Tachycardia, Abnormal hemidiaphragm morphology...	ORPHA:980
Amyloidosis, Hereditary, Transthyretin-Related	Cardiomegaly, Amyloid deposition in the vitreous humor, Cardiomyopathy, Impotence, Increased CSF ...	OMIM:105210
Adams-Oliver Syndrome 2	Hydrocephalus, Optic atrophy, Lateral ventricle dilatation, Limb hypertonia	OMIM:614219
Cardiac Diverticulum	Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Atrial septal defect, P...	ORPHA:1686
Shwachman-Diamond Syndrome	Normocytic anemia, Transient neutropenia, Aplastic anemia, Decreased response to growth hormone s...	ORPHA:811
Thanatophoric Dysplasia	Atrial septal defect, Hydrocephalus, Ventriculomegaly	ORPHA:2655
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Intestinal pseudo-obstruction, Intestinal malrotation, Increased mean platelet volume, Pyloric st...	OMIM:300048
Intellectual Developmental Disorder, X-Linked 30	Hydrocephalus, High palate	OMIM:300558
Metatropic Dysplasia	Hydrocephalus, Camptodactyly of finger, Cleft palate	ORPHA:2635
Neurooculorenal Syndrome	Ectopic posterior pituitary, Intestinal malrotation, Dextrocardia, Conjugated hyperbilirubinemia,...	OMIM:620305
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Myeloid leukemia, Hepatomegaly, Neutrophilia, Leukocytosis, Lymphadenopathy, I...	ORPHA:98849
Gorlin Syndrome	Cryptorchidism, Hydrocephalus, Hypogonadotropic hypogonadism	ORPHA:377
Rh Deficiency Syndrome	Hemolytic anemia, Tachycardia, Reticulocytosis, Macrocytic anemia, Anisocytosis, Jaundice, Sphero...	ORPHA:71275
Mucopolysaccharidosis, Type Vii	Hepatomegaly, Abnormal heart valve morphology, Diastasis recti, Splenomegaly, Hydrocephalus, Flex...	OMIM:253220
Hydrolethalus Syndrome 2	Hydrocephalus, Anencephaly, Ventriculomegaly, Cleft palate	OMIM:614120
Pheochromocytoma--Islet Cell Tumor Syndrome	Tachycardia, Hypertensive retinopathy, Hypercalcemia, Cerebral hemorrhage, Congestive heart failu...	OMIM:171420
Alpha-N-Acetylgalactosaminidase Deficiency	Gastroesophageal reflux, Cardiomegaly	ORPHA:3137
Severe Generalized Junctional Epidermolysis Bullosa	Esophageal stricture, Dilated cardiomyopathy, Abnormal blood ion concentration, Gastrointestinal ...	ORPHA:79404
Bile Acid Malabsorption, Primary, 1	Increased fecal bile acid, Fat malabsorption, Failure to thrive, Steatorrhea	OMIM:613291
Capillary Malformation-Arteriovenous Malformation	Epistaxis, Abnormality of the musculature of the limbs, High-output congestive heart failure, Con...	ORPHA:137667
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets	Duodenal ulcer, Decreased circulating 12-HETE, Iron deficiency anemia, Gastric ulcer, Esophageal ...	OMIM:618372
Mucopolysaccharidosis, Type Vi	Hepatomegaly, Tricuspid regurgitation, Splenomegaly, Hydrocephalus, Flexion contracture, Cardiomy...	OMIM:253200
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Communicating hydrocephalus, Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic micr...	OMIM:616084
Marden-Walker Syndrome	Abnormal penis morphology, Skeletal muscle atrophy, Aplasia/Hypoplasia involving the skeletal mus...	ORPHA:2461
Townes-Brocks Syndrome 1	Bifid scrotum, Anal stenosis, Rectoperineal fistula, Ventricular septal defect, Small for gestati...	OMIM:107480
Chiari Malformation Type Ii	Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Dysphagia, Limb muscle weakness	OMIM:207950
Attenuated Familial Adenomatous Polyposis	Duodenal polyposis, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic polyposis, Con...	ORPHA:220460
Beckwith-Wiedemann Syndrome	Hepatomegaly, Overgrowth of external genitalia, Diastasis recti, Cardiomegaly, Cryptorchidism, Pa...	OMIM:130650
Cardiofaciocutaneous Syndrome	Abnormality of the gastrointestinal tract, Abnormal heart valve morphology, Failure to thrive in ...	ORPHA:1340
Beemer-Ertbruggen Syndrome	Ambiguous genitalia, Cryptorchidism, Communicating hydrocephalus, Thrombocytopenia	ORPHA:1237
6P22 Microdeletion Syndrome	Hydrocephalus	ORPHA:251046
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Eunuchoid habitus, Small hypothenar eminence, Hypoplasia of the musculature, Cardiomegaly, Thenar...	ORPHA:2463
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Hamartoma of tongue, Congenital diaphragmatic hernia, Hydrocephalus, Anencephaly, Cleft palate, R...	OMIM:616546
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature	Ventricular septal defect, Sinus bradycardia	OMIM:126320
Tetraamelia-Multiple Malformations Syndrome	Septo-optic dysplasia, Cryptorchidism, Hydrocephalus, Optic atrophy, Vaginal atresia, Anal atresia	ORPHA:3301
Autosomal Recessive Malignant Osteopetrosis	Hepatomegaly, Abnormal pulmonary valve morphology, Splenomegaly, Hydrocephalus, Lymphadenopathy, ...	ORPHA:667
Lateral Meningocele Syndrome	Decreased muscle mass, Bicuspid aortic valve, Ventricular septal defect, Cryptorchidism, Hydrocep...	OMIM:130720
Cryptococcosis	Lymphoid leukemia, Abnormal retinal morphology, Mediastinal lymphadenopathy, Peritonitis, Hydroce...	ORPHA:1546
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Hypomethioninemia, Hydrocephalus, Optic atrophy, Hyperhomocystinemia, Cystathioninemia, Failure t...	ORPHA:395
Crouzon Syndrome	Hydrocephalus, Optic atrophy, Narrow palate	ORPHA:207
Cerebral Visual Impairment	Optic disc pallor, Optic nerve hypoplasia, Hydrocephalus, Optic atrophy, Retinopathy of prematuri...	ORPHA:447788
Vacterl With Hydrocephalus	Spina bifida, Aqueductal stenosis, Esophageal atresia, Cryptorchidism, Hydrocephalus, Tracheoesop...	ORPHA:3412
Cortical Dysplasia, Complex, With Other Brain Malformations 11	High, narrow palate, Hydrocephalus, Ileus, Colpocephaly, Congenital contracture, High palate, Ven...	OMIM:620156
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Hydrocephalus, Flexion contracture, Small for gestational age	OMIM:613330
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Hydrocephalus, Cleft palate, Camptodactyly, Atrial septal defect, Aortic valve stenosis, Dandy-Wa...	ORPHA:459061
Tetrasomy 15Q26	Hydrocephalus, High palate, Camptodactyly, Atrial septal defect, Dandy-Walker malformation	OMIM:614846
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Ventriculomegaly, Hypoplasia of the musculature, Hydrocephalus, Cleft palate, Hydranencephaly, Jo...	OMIM:225790
Pancreatic Lipase Deficiency	Fat malabsorption, Steatorrhea, Hypocholesterolemia	OMIM:614338
Developmental And Epileptic Encephalopathy 95	Hepatomegaly, Multiple joint contractures, Cardiomegaly, Cryptorchidism, Macroglossia, Arthrogryp...	OMIM:618143
Multiple Endocrine Neoplasia Type 1	Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Zollinger-Ellison synd...	ORPHA:652
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Hypertension, Small for gestational age, Pulmonary arterial hypertension, Cardiomegaly	OMIM:613320
Cockayne Syndrome A	Hepatomegaly, Hip contracture, Retinal atrophy, Retinal pigment epithelial mottling, Splenomegaly...	OMIM:216400
Fucosidosis	Hepatomegaly, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Flexion contracture, Macrogloss...	OMIM:230000
Neural Tube Defects, Susceptibility To	Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly	OMIM:182940
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Hydrocephalus, Optic atrophy	ORPHA:93262
45,X/46,Xy Mixed Gonadal Dysgenesis	Bifid scrotum, Bicuspid aortic valve, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, ...	ORPHA:1772
Encephalocraniocutaneous Lipomatosis	Ventricular septal defect, Cryptorchidism, Hydrocephalus, Subvalvular aortic stenosis, Atrial sep...	OMIM:613001
Scorpion Envenomation	Bundle branch block, Tachycardia, Increased circulating NT-proBNP concentration, Acute pancreatit...	ORPHA:466677
Pelvis-Shoulder Dysplasia	Hydranencephaly, Camptodactyly of finger, Spina bifida, Hydrocephalus, Cleft palate, Retinal colo...	ORPHA:2839
Hennekam Lymphangiectasia-Lymphedema Syndrome 3	Hydrocele testis, Protein-losing enteropathy	OMIM:618154
Diets-Jongmans Syndrome	Ventricular septal defect, Hypospadias, Congenital diaphragmatic hernia, Cryptorchidism, Duodenal...	OMIM:618846
Trichothiodystrophy 3, Photosensitive	Meckel diverticulum, Lymphopenia, Bilateral cryptorchidism, Pyloric stenosis, Neutropenia, Failur...	OMIM:616395
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Aganglionic megacolon, Hydrocephalus, Cleft palate, Abnormal heart morphology, Anteriorly placed ...	OMIM:239300
Hogue-Janssen Syndrome 2	Hydrocephalus, Facial hypotonia, Ventriculomegaly	OMIM:616362
Acrodysostosis 1 With Or Without Hormone Resistance	Small for gestational age, Cryptorchidism, Hydrocephalus, Optic atrophy, Irregular menstruation, ...	OMIM:101800
Mungan Syndrome	Barrett esophagus, Tricuspid regurgitation, Intestinal pseudo-obstruction, Hypoperistalsis, Perim...	OMIM:611376
Limb Body Wall Complex	Encephalocele, Ventricular septal defect, Diastasis recti, Spina bifida, Congenital diaphragmatic...	ORPHA:2369
Apert Syndrome	Esophageal atresia, Hydrocephalus, Optic atrophy, Narrow palate, Cleft palate, Ovarian neoplasm, ...	ORPHA:87
Crouzon Syndrome With Acanthosis Nigricans	Hydrocephalus	OMIM:612247
Thakker-Donnai Syndrome	Communicating hydrocephalus, Ventricular septal defect, Congenital diaphragmatic hernia, Tracheoe...	ORPHA:1780
Thoracoabdominal Syndrome	Hypospadias, Congenital diaphragmatic hernia, Hydrocephalus, Anencephaly, Cleft palate, Transposi...	OMIM:313850
Beare-Stevenson Cutis Gyrata Syndrome	Bifid scrotum, Hypospadias, Hydrocephalus, Optic atrophy, Narrow palate, Anteriorly placed anus, ...	OMIM:123790
Joubert Syndrome 2	Encephalocele, Enlarged fossa interpeduncularis, Retinal dystrophy, Hydrocephalus, Optic disc col...	OMIM:608091
Duodenal Atresia	Duodenal atresia	OMIM:223400
Spondylocostal Dysostosis 4, Autosomal Recessive	Anal stenosis, Dextrocardia, Situs inversus totalis, Myelomeningocele, Hydrocephalus, Ectopic anu...	OMIM:613686
Ciliary Dyskinesia, Primary, 1	Communicating hydrocephalus, Male infertility, Situs inversus totalis, Absent outer dynein arms, ...	OMIM:244400
Icf Syndrome	Communicating hydrocephalus, Abnormality of neutrophils, Malabsorption, Protruding tongue, Macrog...	ORPHA:2268
Edinburgh Malformation Syndrome	Hydrocephalus, Failure to thrive	ORPHA:1895
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts	Communicating hydrocephalus, Endocardial fibroelastosis	OMIM:600559
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Methylmalonic acidemia, Hypomethioninemia, Megaloblastic anemia, Hydrocephalus, Hyperhomocystinem...	OMIM:277400
Shprintzen-Goldberg Syndrome	Communicating hydrocephalus, Camptodactyly of finger, High, narrow palate, Cryptorchidism, Aplasi...	ORPHA:2462
Cardiofaciocutaneous Syndrome 1	Splenomegaly, Hydrocephalus, Submucous cleft hard palate, Optic nerve dysplasia, High palate, Gas...	OMIM:115150
Tetrasomy 5P	Congestive heart failure, Hydrocephalus, Aplasia/Hypoplasia of the abdominal wall musculature, He...	ORPHA:3309
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Hydrocephalus, High palate, Obesity	ORPHA:2180
Generalized Juvenile Polyposis/Juvenile Polyposis Coli	Small intestinal polyposis, Duodenal polyposis, Rectal polyposis, Adenomatous colonic polyposis, ...	ORPHA:329971
Gardner Syndrome	Neoplasm of the pancreas, Duodenal polyposis, Ampulla of Vater carcinoma, Adenomatous colonic pol...	ORPHA:79665
Tenorio Syndrome	Raynaud phenomenon, Hydrocephalus, Macroglossia, Syncope, Gastroesophageal reflux, Ventriculomegaly	OMIM:616260
Marshall-Smith Syndrome	Ventricular septal defect, Optic nerve hypoplasia, Bilateral cryptorchidism, Pyloric stenosis, Cr...	OMIM:602535
Paternal Uniparental Disomy Of Chromosome 6	Hepatomegaly, Ventricular septal defect, Cardiomegaly, Precocious puberty, Cryptorchidism, Labial...	ORPHA:96191
7Q11.23 Microduplication Syndrome	Ventricular septal defect, Hypospadias, Congenital diaphragmatic hernia, Cryptorchidism, Hydrocep...	ORPHA:96121
Tetrasomy 9P	Myositis, Biliary atresia, High palate, Micropenis, Patent foramen ovale, Bifid uvula, Dandy-Walk...	ORPHA:3310
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Hydrocephalus, Optic atrophy, Hypocalcemia, Dandy-Walker malformation, Ventriculomegaly	OMIM:618476
Melanosis, Neurocutaneous	Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation	OMIM:249400
Cutis Laxa, Autosomal Recessive, Type Iib	Decreased muscle mass, Hydrocephalus, Gastroesophageal reflux, High palate, Failure to thrive	OMIM:612940
Endocrine-Cerebroosteodysplasia	Ventriculomegaly, Small scrotum, Hypospadias, Cryptorchidism, Hydrocephalus, Sex reversal, Microp...	OMIM:612651
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Aortic regurgitation, Retinal detachment, Tricuspid regurgitation, Intestinal malrotation, Diasta...	OMIM:601776
Joubert Syndrome With Oculorenal Defect	Encephalocele, Aganglionic megacolon, Retinal dystrophy, Hydrocephalus, Chorioretinal coloboma	ORPHA:2318
Congenital Tracheal Stenosis	Ventricular septal defect, Abnormal stomach morphology, Tracheoesophageal fistula, Duodenal steno...	ORPHA:141127
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Hypoplasia of penis, Supernumerary nipple, Cryptorchidism, Hydrocephalus, Cleft palate, Ventricul...	ORPHA:1812
Arterial Calcification, Generalized, Of Infancy, 1	Myocardial infarction, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Hypertensi...	OMIM:208000
Simpson-Golabi-Behmel Syndrome, Type 1	Congenital diaphragmatic hernia, Atrial septal defect, Hepatoblastoma, Exaggerated median tongue ...	OMIM:312870
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Papilledema, Hydrocephalus	OMIM:260500
Familial Adenomatous Polyposis	Cholangiocarcinoma, Duodenal polyposis, Pancreatic adenocarcinoma, Stomach cancer, Goiter, Pituit...	ORPHA:733
Chromosome 17P13.1 Deletion Syndrome	Spina bifida, High, narrow palate, Hydrocephalus, Elbow flexion contracture, Knee flexion contrac...	OMIM:613776
Orofaciodigital Syndrome I	Hamartoma of tongue, Pancreatic cysts, Myelomeningocele, Hydrocephalus, Cleft palate, Tongue nodu...	OMIM:311200
Central Neurocytoma	Abnormal lateral ventricle morphology, Hydrocephalus	ORPHA:73256
Apert Syndrome	Overriding aorta, Ventricular septal defect, Pyloric stenosis, Esophageal atresia, Cryptorchidism...	OMIM:101200
Spondyloepimetaphyseal Dysplasia, Krakow Type	Elbow contracture, Hydrocephalus, Knee flexion contracture, High palate, Atrial septal defect, An...	OMIM:618162
Kallmann Syndrome	Hypothalamic gonadotropin-releasing hormone deficiency, Anterior hypopituitarism, Hypogonadotropi...	ORPHA:478
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Hydrocephalus, Flexion contracture, Hypoplastic labia majora, Camptodactyly, Atrial septal defect...	OMIM:207410
1Q21.1 Microdeletion Syndrome	Cryptorchidism, Hydrocephalus, Abnormal cardiac septum morphology, High palate, Failure to thrive...	ORPHA:250989
Fanconi Anemia, Complementation Group R	Anemia, Hydrocephalus, Bone marrow hypocellularity, Anal atresia	OMIM:617244
Lymphangioleiomyomatosis	Gastrointestinal hemorrhage, Retinal hamartoma, Hydrocephalus, Abnormality of the lymphatic syste...	ORPHA:538
Aicardi-Goutières Syndrome	Elevated hepatic transaminase, Myositis, Multiple joint contractures, Cardiomegaly, Raynaud pheno...	ORPHA:51
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Hydrocephalus, Absent extraocular muscles, Ventriculomegaly	OMIM:109120
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Bicuspid aortic valve, Congenital diaphragmatic hernia, Cardiomegaly, Hydrocephalus, Elbow flexio...	OMIM:245600
Sturge-Weber Syndrome	Conjunctival telangiectasia, Retinal detachment, Pulmonary embolism, Abnormal retinal vascular mo...	ORPHA:3205
Marfanoid-Progeroid-Lipodystrophy Syndrome	Lateral ventricular asymmetry, Scapular winging, High, narrow palate, Hydrocephalus, Mitral valve...	OMIM:616914
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome	Abnormality of the diencephalon	ORPHA:2570
Dubowitz Syndrome	Hypoparathyroidism, Anal stenosis, Hypospadias, Abnormality of neutrophils, Malabsorption, Thromb...	ORPHA:235
Williams Syndrome	Hypoplasia of penis, Bicuspid aortic valve, Elevated circulating creatine kinase concentration, M...	ORPHA:904
Oxoglutaric Aciduria	Skeletal muscle atrophy, Abnormal salivary gland morphology, Hydrocephalus	ORPHA:31
Aorta Coarctation	Bicuspid aortic valve, Cardiomegaly, Congestive heart failure, Aortic valve atresia, Hypertension...	ORPHA:1457
Oeis Complex	Intestinal malrotation, Bifid uterus, Epispadias, Cryptorchidism, Ambiguous genitalia, female, Ve...	OMIM:258040
Hereditary Cryohydrocytosis With Reduced Stomatin	Communicating hydrocephalus, Spontaneous hemolytic crises, Conjugated hyperbilirubinemia, Jaundic...	ORPHA:168577
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Retinal dystrophy, Aqueductal stenosis, Cryptorchidism, Hydrocephalus, Optic atrophy, High palate...	OMIM:619512
Pettigrew Syndrome	Aqueductal stenosis, Hydrocephalus, Flexion contracture, Optic atrophy, Dandy-Walker malformation...	OMIM:304340
Kabuki Syndrome	Hypoplasia of penis, Hypospadias, Congenital diaphragmatic hernia, Precocious puberty, Cryptorchi...	ORPHA:2322
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Cachexia, Duodenal ulcer, Steatorrhea, Malabsorption	ORPHA:3217
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Optic disc pallor, Hydrocephalus, Small pituitary gland, Nasofrontal encephalocele, Ventriculomegaly	OMIM:614195
Zygomycosis	Unusual gastrointestinal infection, Colitis, Neutropenia, Mediastinal lymphadenopathy, Hepatitis,...	ORPHA:73263
Holoprosencephaly 14	Ventriculomegaly, Ventricular septal defect, Alobar holoprosencephaly, Aqueductal stenosis, Hydro...	OMIM:619895
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Aganglionic megacolon, Intraventricular hemorrhage, Hydrocephalus, Hydrocele testis, Ventriculome...	OMIM:613603
Fraser Syndrome 1	Encephalocele, Abnormal small intestine morphology, Hypospadias, Cryptorchidism, Myelomeningocele...	OMIM:219000
Distal 22Q11.2 Microduplication Syndrome	Tricuspid regurgitation, Ventricular septal defect, Camptodactyly of finger, Cryptorchidism, Hydr...	ORPHA:261337
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Fused labia majora, Adrenal hyperplasia, High, narrow palate, Flexion contracture, Anteriorly pla...	ORPHA:95699
Tarp Syndrome	Failure to thrive, Extramedullary hematopoiesis, Cryptorchidism, Optic atrophy, Tetralogy of Fall...	ORPHA:2886
Familial Aortic Dissection	Aortic regurgitation, Abnormal left ventricular function, Cardiomegaly	ORPHA:229
Alexander Disease	Facial palsy, Sudden cardiac death, Precocious puberty, Aqueductal stenosis, Hydrocephalus, Hyper...	ORPHA:58
Truncus Arteriosus	Aortic regurgitation, Tachycardia, Ventricular septal defect, Abnormal heart valve morphology, Ca...	ORPHA:3384
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius	Aqueductal stenosis, Hydrocephalus, Holoprosencephaly	ORPHA:2182
Tarp Syndrome	Failure to thrive, Optic atrophy, Subdural hemorrhage, Cleft palate, Tongue nodules, Tetralogy of...	OMIM:311900
Otopalatodigital Syndrome Type 2	Encephalocele, Abnormal heart valve morphology, Hypospadias, Camptodactyly of finger, Myelomening...	ORPHA:90652
Osteopathia Striata With Cranial Sclerosis	Anal stenosis, Ventricular septal defect, Intestinal malrotation, Facial palsy, Hydrocephalus, Sp...	OMIM:300373
Shprintzen-Goldberg Craniosynostosis Syndrome	Cryptorchidism, Hydrocephalus, Narrow palate, Mitral valve prolapse, Gastroesophageal reflux, Hig...	OMIM:182212
Acrocephalopolydactylous Dysplasia	Hypoplastic colon, Hepatomegaly, Pancreatic fibrosis, Hypoplasia of the small intestine, Hepatic ...	OMIM:200995
Isotretinoin Embryopathy-Like Syndrome	Hydrocephalus, Conotruncal defect, Cleft palate	OMIM:243440
Mirizzi Syndrome	Elevated hepatic transaminase, Tachycardia, Pancreatitis, Jaundice, Cholesterol gallstones, Hyper...	ORPHA:521219
Apc-Related Attenuated Familial Adenomatous Polyposis	Neoplasm of the pancreas, Duodenal polyposis, Adenomatous colonic polyposis, Esophageal carcinoma...	ORPHA:247806
Craniopharyngioma	Papilledema, Enlarged pituitary gland, Hypogonadotropic hypogonadism, Myocardial infarction, Neop...	ORPHA:54595
Joubert Syndrome	Situs inversus totalis, Encephalocele, Aganglionic megacolon, Hydrocephalus	ORPHA:475
Lethal Acantholytic Erosive Disorder	Cardiomegaly, Cleft palate, Impaired myocardial contractility, Hypovolemic shock, Cardiomyopathy,...	ORPHA:158687
Aymé-Gripp Syndrome	Pericarditis, Congenital diaphragmatic hernia, Pericardial effusion, Cryptorchidism, Hydrocephalu...	ORPHA:1272
Dural Sinus Malformation	Papilledema, Cerebral hemorrhage, Subarachnoid hemorrhage, Myelopathy, Cerebellar hemorrhage, Hyd...	ORPHA:97339
Tetraamelia Syndrome 1	Hypoplasia of the fallopian tube, Congenital diaphragmatic hernia, Absent external genitalia, Asp...	OMIM:273395
Peho Syndrome	Hydrocephalus, Flexion contracture, Optic atrophy, Arthrogryposis multiplex congenita, Ventriculo...	ORPHA:2836
Hyperparathyroidism, Transient Neonatal	Communicating hydrocephalus, Hyperparathyroidism, Ventriculomegaly, Ovarian cyst, Gastroesophagea...	OMIM:618188
Absent Radius-Anogenital Anomalies Syndrome	Hydrocephalus, Rectal atresia, Perineal fistula, Rectovaginal fistula, Anal atresia	ORPHA:3016
Wolf-Hirschhorn Syndrome	Accessory spleen, Decreased muscle mass, Ventricular septal defect, Small for gestational age, Hy...	OMIM:194190
Koolen-De Vries Syndrome Due To A Point Mutation	Hand muscle atrophy, Bicuspid aortic valve, Ventricular septal defect, Small for gestational age,...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Hand muscle atrophy, Bicuspid aortic valve, Ventricular septal defect, Small for gestational age,...	ORPHA:363958
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Congestive heart failure, Hydrocephalus, Irregular menstruation, Uterine leiomyoma, Gastroesophag...	OMIM:616482
Crouzon Syndrome	High palate, Hydrocephalus, Optic atrophy, Dysgerminoma	OMIM:123500
Thanatophoric Dysplasia Type 1	Atrial septal defect, Hydrocephalus, Ventriculomegaly	ORPHA:1860
Holoprosencephaly-Caudal Dysgenesis Syndrome	Abnormality of the diencephalon	ORPHA:2165
Monosomy 9Q22.3	Ovarian fibroma, Rhabdomyosarcoma, Large for gestational age, Hydrocephalus, Cardiac fibroma, Ret...	ORPHA:77301
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Hip contracture, Failure to thrive, Ventricular septal defect, Shoulder flexion contracture, Cryp...	OMIM:210710
Cockayne Syndrome B	Hepatomegaly, Small for gestational age, Splenomegaly, Cryptorchidism, Optic atrophy, Micropenis,...	OMIM:133540
Hajdu-Cheney Syndrome	Hepatomegaly, Ventricular septal defect, Mitral stenosis, Intestinal malrotation, Hypospadias, Sp...	ORPHA:955
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Atrial septal defect, Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, S...	OMIM:300967
Mycophenolate Mofetil Embryopathy	Ventricular septal defect, Congenital diaphragmatic hernia, Hydrocephalus, Tracheoesophageal fist...	ORPHA:268249
Pfeiffer Syndrome Type 2	Intestinal malrotation, Aqueductal stenosis, Hydrocephalus, Cleft palate, High palate, Anal atresia	ORPHA:93259
Mend Syndrome	Cryptorchidism, Hydrocephalus, High palate, Macular hypoplasia, Aortic valve stenosis, Failure to...	OMIM:300960
Carney Triad	Gastrointestinal hemorrhage, Tachycardia, Gastrointestinal stroma tumor, Mediastinal lymphadenopa...	ORPHA:139411
Oculocerebral Hypopigmentation Syndrome, Preus Type	Abnormality of neutrophils, Hydrocephalus, Ocular albinism, High palate, Hypochromic anemia	ORPHA:2720
Costello Syndrome	Ventricular septal defect, Rhabdomyosarcoma, Pyloric stenosis, Hydrocephalus, Achilles tendon con...	OMIM:218040
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Bifid scrotum, Bicuspid aortic valve, High, narrow palate, High palate, Chorioretinal coloboma, M...	OMIM:619475
15Q Overgrowth Syndrome	Contracture of the proximal interphalangeal joint of the 3rd finger, Tricuspid regurgitation, Con...	ORPHA:314585
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Right bundle branch block, High palate, Hydrocephalus, Optic atrophy	OMIM:618590
Whim Syndrome	Abnormal small intestine morphology, Lymphopenia, Lymphadenitis, Abnormal neutrophil morphology, ...	ORPHA:51636
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Ventriculomegaly, Retinal atrophy, Elevated circulating creatine kinase concentration, Hydrocepha...	OMIM:253280
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Hydrocephalus, Choroid plexus cyst, Intestinal malrotation, Ventriculomegaly	OMIM:617866
Pseudoaminopterin Syndrome	Posterolateral diaphragmatic hernia, Asplenia, Cryptorchidism, Hydrocephalus, High palate, Patent...	ORPHA:221120
Fanconi Anemia, Complementation Group L	Esophageal atresia, Hydrocephalus, Tracheoesophageal fistula, Cleft palate, Bone marrow hypocellu...	OMIM:614083
Metachromatic Leukodystrophy	Abnormal stomach morphology, Neoplasm of the gallbladder, Abnormal gallbladder morphology, Hemobi...	ORPHA:512
Congenital Tracheomalacia	Failure to thrive, Ventricular septal defect, Cardiomegaly, Esophageal atresia, Partial anomalous...	ORPHA:95430
Scedosporiosis	Pericarditis, Abnormal jejunum morphology, Endocarditis	ORPHA:449280
Intellectual Developmental Disorder, Autosomal Dominant 65	Facial hypotonia, Noncommunicating hydrocephalus	OMIM:619320
Hydrocephaly-Low Insertion Umbilicus Syndrome	Communicating hydrocephalus, Tetralogy of Fallot, Anomalous pulmonary venous return	ORPHA:2184
Exstrophy-Epispadias Complex	Abnormality of the gastrointestinal tract, Bifid scrotum, Anal stenosis, Spina bifida, Bifid uter...	ORPHA:322
Ventriculomegaly With Defects Of The Radius And Kidney	Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation	OMIM:602200
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion	Duodenal polyposis, Optic disc hypoplasia, Adenomatous colonic polyposis, Congenital hypertrophy ...	ORPHA:261584
Cutis Laxa, Autosomal Recessive, Type Ib	Pulmonary insufficiency, High palate, Bradycardia, Congenital diaphragmatic hernia	OMIM:614437
Abnormal Hair, Joint Laxity, And Developmental Delay	Mitral regurgitation, Tricuspid regurgitation, Sinus bradycardia	OMIM:261990
Fontaine Progeroid Syndrome	Atrial septal defect, Tricuspid regurgitation, Bicuspid aortic valve, Small for gestational age, ...	OMIM:612289
Hydrocephalus, Congenital, X-Linked	Aqueductal stenosis, Hydrocephalus	OMIM:307000
Familial Adenomatous Polyposis 4	Duodenal polyposis, Gastric adenocarcinoma, Adenomatous colonic polyposis, Ovarian cyst, Uterine ...	OMIM:617100
Coffin-Siris Syndrome 1	Dandy-Walker malformation, Duodenal ulcer, Intestinal malrotation, Ventricular septal defect, Hyp...	OMIM:135900
Muenke Syndrome	High, narrow palate, Hydrocephalus	ORPHA:53271
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Ventricular septal defect, Overweight, High, narrow palate, Dilated third ventricle, Hydrocephalu...	OMIM:619575
Kabuki Syndrome 1	Hemolytic anemia, Anal stenosis, Ventricular septal defect, Intestinal malrotation, Premature the...	OMIM:147920
Chromosome 1P36 Deletion Syndrome, Distal	Bicuspid aortic valve, High palate, Gastroesophageal reflux, Atrial septal defect, Patent foramen...	OMIM:607872
Joubert Syndrome With Renal Defect	Encephalocele, Hydrocephalus, Aganglionic megacolon, Cleft palate	ORPHA:220497
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Encephalocele, Hydrocephalus, Cleft palate, Camptodactyly, Joint contracture of the hand	OMIM:224400
Yunis-Varon Syndrome	Ventricular septal defect, Hypospadias, Cardiomegaly, High, narrow palate, Pyloric stenosis, Cryp...	ORPHA:3472
Fetal Akinesia Deformation Sequence 1	Hip contracture, Decreased muscle mass, Small for gestational age, Elbow contracture, Camptodacty...	OMIM:208150
Hajdu-Cheney Syndrome	Ventricular septal defect, Intestinal malrotation, Hypospadias, Cryptorchidism, Hydrocephalus, Hi...	OMIM:102500
Cousin Syndrome	Hydrocephalus, Ambiguous genitalia, female, Cleft palate, Ambiguous genitalia, male, Camptodactyl...	OMIM:260660
Basal Cell Nevus Syndrome 1	Ovarian fibroma, Spina bifida, Hydrocephalus, Hamartomatous stomach polyps, Cardiac fibroma, Card...	OMIM:109400
Generalized Arterial Calcification Of Infancy	Ventricular hypertrophy, Transient ischemic attack, Left ventricular systolic dysfunction, Choroi...	ORPHA:51608
Ventriculomegaly With Cystic Kidney Disease	Hydrocephalus, Ventricular septal defect, Ventriculomegaly	OMIM:219730
Cerebrooculonasal Syndrome	Encephalocele, Ventriculomegaly, Optic nerve hypoplasia, Hydrocephalus, Cleft palate, Narrow pala...	OMIM:605627
Familial Adenomatous Polyposis 1	Duodenal polyposis, Adenomatous colonic polyposis, Congenital hypertrophy of retinal pigment epit...	OMIM:175100
Glutaryl-Coa Dehydrogenase Deficiency	Communicating hydrocephalus, Subdural hemorrhage, Retinal hemorrhage, Subependymal nodules, Dysph...	ORPHA:25
Developmental And Epileptic Encephalopathy 49	Ventriculomegaly, Optic atrophy, Hydrocephalus, Dandy-Walker malformation	OMIM:617281
Arachnoid Cyst	Encephalocele, Enlarged fossa interpeduncularis, Facial palsy, Subarachnoid hemorrhage, Hydroceph...	ORPHA:2356
Pituitary Deficiency Due To Rathke Cleft Cysts	Enlarged pituitary gland, Hypopituitarism, Hypogonadotropic hypogonadism, Hydrocephalus, Pituitar...	ORPHA:91350
Alpha-Mannosidosis, Infantile Form	Aortic regurgitation, Optic disc pallor, Pancytopenia, Communicating hydrocephalus, Facial hypoto...	ORPHA:309282
Congenital Total Pulmonary Venous Return Anomaly	Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s...	ORPHA:99125
Full Nf2-Related Schwannomatosis	Remnants of the hyaloid vascular system, Facial palsy, Retinal hamartoma, Epiretinal membrane, My...	ORPHA:637
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Aortic regurgitation, Transient ischemic attack, Bicuspid aortic valve, Subarachnoid hemorrhage, ...	ORPHA:91387
Hydrocephalus, Congenital, 4	Communicating hydrocephalus, Ventriculomegaly	OMIM:618667
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Hydrocephalus	OMIM:617542
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Telangiectasia of the skin, Decreased response to growth hormone stimulation test, Hydrocephalus,...	OMIM:616007
Amelocerebrohypohidrotic Syndrome	Hydrocephalus	ORPHA:1946
Hydrocephalus, Congenital, 5, Susceptibility To	Aqueductal stenosis, Noncommunicating hydrocephalus	OMIM:620241
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Hydrocephalus, Absent nipple, High palate, Mitral valve prolapse	OMIM:104350
Acrofacial Dysostosis 1, Nager Type	Ventricular septal defect, Aganglionic megacolon, Congenital diaphragmatic hernia, Aqueductal ste...	OMIM:154400
Cole-Carpenter Syndrome 2	Hydrocephalus, High palate	OMIM:616294
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Hydrocephalus	OMIM:300863
Holoprosencephaly 9	Decreased response to growth hormone stimulation test, Optic nerve hypoplasia, Anterior pituitary...	OMIM:610829
Tuberous Sclerosis Complex	Retinal astrocytic hamartoma, Retinal hamartoma, Pituitary adenoma, Parathyroid hyperplasia, Nonc...	ORPHA:805
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Torticollis, Optic nerve hypoplasia, Congenital fibrosis of extraocular muscles, Lateral ventricl...	ORPHA:300570
Hydrocephalus, Normal-Pressure, 1	Normal pressure hydrocephalus	OMIM:236690
Cantú Syndrome	Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly	ORPHA:1517
Tremor-Nystagmus-Duodenal Ulcer Syndrome	Duodenal ulcer	ORPHA:3350
Peters-Plus Syndrome	Hypoplasia of the vagina, Ventricular septal defect, Bilobate gallbladder, Hypospadias, Diastasis...	OMIM:261540
Lenz-Majewski Hyperostotic Dwarfism	Abnormal penis morphology, Hypospadias, External genital hypoplasia, Facial palsy, High, narrow p...	ORPHA:2658
Raine Syndrome	Protruding tongue, Hydrocephalus, Cleft palate, High palate, Hypophosphatemia, Arthrogryposis mul...	OMIM:259775
Lhermitte-Duclos Disease	Macroglossia, Hydrocephalus, Ovarian neoplasm	ORPHA:65285
Hydrolethalus Syndrome 1	Accessory spleen, Hypospadias, Ventricular septal defect, Bifid uterus, Complete atrioventricular...	OMIM:236680
Laurin-Sandrow Syndrome	Cryptorchidism, Hydrocephalus	ORPHA:2378
Wiedemann-Rautenstrauch Syndrome	Optic disc hypoplasia, Decreased response to growth hormone stimulation test, Congenital malforma...	ORPHA:3455
Medulloblastoma	Elevated hepatic transaminase, Cerebellar hemorrhage, Adenomatous colonic polyposis, Hydrocephalus	ORPHA:616
Achondroplasia	Hydrocephalus, Obesity	ORPHA:15
Peters Plus Syndrome	Intestinal fistula, Ventriculomegaly, Hypospadias, Cryptorchidism, Hydrocephalus, Bicuspid pulmon...	ORPHA:709
Lethal Omphalocele-Cleft Palate Syndrome	Cleft soft palate, Bifid uterus, Hydrocephalus, Cleft palate, Bifid uvula	ORPHA:2736
Thanatophoric Dysplasia, Type I	Hydrocephalus	OMIM:187600
Tremor, Nystagmus, And Duodenal Ulcer	Duodenal ulcer	OMIM:190310
Neurofibromatosis Type 1	Abnormality of retinal pigmentation, Precocious puberty, Cryptorchidism, Hydrocephalus, Chronic m...	ORPHA:636
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Retinopathy, Hydrocephalus, Optic atrophy, Cachexia	ORPHA:220295
Thrombocytopenia-Absent Radius Syndrome	Ventricular septal defect, Eosinophilia, Spina bifida, Shoulder muscle hypoplasia, Pancreatic cys...	OMIM:274000
Ciliary Dyskinesia, Primary, 43	Abdominal situs inversus, Noncommunicating hydrocephalus	OMIM:618699
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Hydrocephalus	ORPHA:163966
Arachnoiditis	Hydrocephalus	ORPHA:137817
Focal Dermal Hypoplasia	Intestinal malrotation, Supernumerary nipple, Hiatus hernia, Congenital diaphragmatic hernia, Cry...	OMIM:305600
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Torticollis, Multiple joint contractures, Hydrocephalus, Mitral valve prolapse, High palate, Peri...	ORPHA:536467
Wiedemann-Rautenstrauch Syndrome	Hypertriglyceridemia, Small for gestational age, Hypospadias, Secundum atrial septal defect, Cryp...	OMIM:264090
Cole-Carpenter Syndrome 1	Communicating hydrocephalus, Hydrocephalus	OMIM:112240
Mosaic Trisomy 16	Abnormality of the gastrointestinal tract, Ventricular septal defect, Small for gestational age, ...	ORPHA:1708
Pfeiffer Syndrome	Hydrocephalus, High palate	OMIM:101600
Large Congenital Melanocytic Nevus	Hydrocephalus, Rhabdomyosarcoma	ORPHA:626
Microphthalmia With Limb Anomalies	Cryptorchidism, Hydrocephalus, Optic atrophy, Cleft palate, Camptodactyly of 2nd-5th fingers, Hig...	ORPHA:1106
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Hemolytic anemia, Elevated circulating creatine kinase concentration, Cerebral hemorrhage, Retina...	OMIM:175780
Coffin-Siris Syndrome 12	Elevated hepatic transaminase, Failure to thrive, Hypospadias, Facial palsy, Celiac disease, Cryp...	OMIM:619325
Baller-Gerold Syndrome	Optic nerve hypoplasia, Anomalous splenoportal venous system, Hydrocephalus, Optic atrophy, Cleft...	OMIM:218600
Mohr Syndrome	Hydrocephalus, Cleft palate, Tongue nodules, Lobulated tongue, High palate, Bifid tongue	OMIM:252100
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Facial hypotonia, Optic nerve hypoplasia, Hydrocephalus, Aplasia of the vagina, Aplasia of the ut...	ORPHA:457284
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Hip contracture, Bilateral cryptorchidism, Hydrocephalus, Flexion contracture, Myopathy, Hypogona...	ORPHA:3042
Holoprosencephaly 7	Bilateral cleft palate, Alobar holoprosencephaly, Hydrocephalus, Cleft palate, Lobar holoprosence...	OMIM:610828
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Small intestinal dysmotility, Sinus bradycardia, Gastroesophageal reflux, Dysphagia, Achalasia, I...	OMIM:619482
Roberts-Sc Phocomelia Syndrome	Accessory spleen, Ventricular septal defect, Hypospadias, Enlarged labia minora, Ankle flexion co...	OMIM:268300
Osteogenesis Imperfecta	Aortic regurgitation, Abnormal endocardium morphology, Intestinal obstruction, Ventriculomegaly, ...	ORPHA:666
Campomelic Dysplasia	Hypospadias, Spina bifida, Contracture of the distal interphalangeal joint of the fingers, Hydroc...	OMIM:114290
Chilton-Okur-Chung Neurodevelopmental Syndrome	Communicating hydrocephalus, Septo-optic dysplasia, Hypospadias, Epistaxis, Anterior pituitary hy...	OMIM:619841
Genitopatellar Syndrome	Hip contracture, Anal stenosis, Small scrotum, Ventricular septal defect, Clitoral hypertrophy, E...	OMIM:606170
Microvillus Inclusion Disease	Villous atrophy, Abnormal small intestinal villus morphology, Hypovolemia	ORPHA:2290
Loeys-Dietz Syndrome 1	Bicuspid aortic valve, Eosinophilic infiltration of the esophagus, Hydrocephalus, Bicuspid pulmon...	OMIM:609192
Basal Cell Nevus Syndrome 2	Hydrocephalus	OMIM:620343
Neurofibromatosis, Type I	Spina bifida, Rhabdomyosarcoma, Aqueductal stenosis, Hydrocephalus, Hypertension, Pheochromocytom...	OMIM:162200
Menke-Hennekam Syndrome 2	Duodenal ulcer	OMIM:618333
Visceral Myopathy 1	Intestinal pseudo-obstruction, Aganglionic megacolon, Pancreatitis, Dysphagia, Megaduodenum, Micr...	OMIM:155310
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Ventricular septal defect, Hydrocephalus, Abnormal heart morphology, Mitral valve prolapse, Mitra...	ORPHA:363700
Thoracic Dysplasia-Hydrocephalus Syndrome	Communicating hydrocephalus	ORPHA:1861
Sacral Defect With Anterior Meningocele	Myeloschisis, Myelomeningocele, Hydrocephalus, Meningocele, Dermal sinus tract, Rectal abscess	OMIM:600145
Fraser Syndrome 3	Hypoplasia of penis, Small scrotum, Hydrocephalus	OMIM:617667
Viss Syndrome	Chronic gastritis, Epidural hemorrhage, High, narrow palate, Right ventricular dilatation, High p...	OMIM:619472
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Communicating hydrocephalus, Facial hypotonia, Large for gestational age, High palate, Micropenis...	ORPHA:457359
Achondroplasia	Hydrocephalus	OMIM:100800
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Communicating hydrocephalus	ORPHA:1064
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Telangiectasia of the oral mucosa, Telangiectasia of the skin, Lip telangiectasia, Cardiomegaly	ORPHA:79280
Loeys-Dietz Syndrome 2	Bicuspid aortic valve, Eosinophilic infiltration of the esophagus, Hydrocephalus, Bicuspid pulmon...	OMIM:610168
Cole-Carpenter Syndrome	Communicating hydrocephalus	ORPHA:2050
Isolated Posterior Meningocele	Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Occipital meningocele	ORPHA:268810
Otopalatodigital Syndrome, Type Ii	Hypospadias, Elbow contracture, Spina bifida, Cryptorchidism, Hydrocephalus, Cleft palate, Atrial...	OMIM:304120
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Communicating hydrocephalus, High palate, Ventriculomegaly, Large for gestational age	OMIM:617011
Singleton-Merten Syndrome 1	Mitral valve calcification, Cardiomegaly, Congestive heart failure, Aortic valve calcification, S...	OMIM:182250
Split Cord Malformation	Hypospadias, Cervical spina bifida, Myelomeningocele, Meningocele, Lipomyelomeningocele, Hydrocep...	ORPHA:573278
Norrie Disease	Diabetes mellitus, Abnormality of the diencephalon, Delayed puberty	ORPHA:649
Craniofacial Microsomia 1	Occipital encephalocele, Ventricular septal defect, Hypoplasia of facial musculature, Hydrocephal...	OMIM:164210
Intellectual Developmental Disorder With Short Stature, Facial Anomalies, And Speech Defects	High palate	OMIM:606220

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.

There is no histopathology data for Fbxl3

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 Fbxl3.

No publications found that use IMPC mice or data for Fbxl3.

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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.

MGI Allele	Allele Type	Produced
Fbxl3^{tm380507(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Fbxl3^{em1(IMPC)Ccpcz}	Exon Deletion	Mice
Fbxl3^{Gt(CB0226)Wtsi}	Reporter-tagged deletion allele (with selection cassette)	ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Fbxl3 MGI:1354702

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

X-ray

X-ray

X-ray

X-ray

Human diseases caused by Fbxl3 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data