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Gene: Fbxl3 MGI:1354702

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Gene Summary

Name:
F-box and leucine-rich repeat protein 3
Synonyms:
Fbl3a,  Play68,  Ovtm,  Fbxl3a

Order Alleles

IMPC Data Collections

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 System Allele Zyg Sex Life Stage P Value
abnormal heart morphology Fbxl3em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal skin morphology Fbxl3em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal testis morphology Fbxl3em1(IMPC)Ccpcz HOM Early adult 0.00
decreased lean body mass Fbxl3em1(IMPC)Ccpcz HOM Early adult 4.84×10-05
hydrocephaly Fbxl3em1(IMPC)Ccpcz HOM Early adult 0.00
enlarged heart Fbxl3em1(IMPC)Ccpcz HOM Early adult 0.00
decreased circulating total protein level Fbxl3em1(IMPC)Ccpcz HOM Early adult 8.88×10-06
abnormal spleen morphology Fbxl3em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal duodenum morphology Fbxl3em1(IMPC)Ccpcz HOM Early adult 0.00
decreased liver weight Fbxl3em1(IMPC)Ccpcz HOM Early adult 1.02×10-05
abnormal retina morphology Fbxl3em1(IMPC)Ccpcz HOM Early adult 1.53×10-05
abnormal skeletal muscle morphology Fbxl3em1(IMPC)Ccpcz HOM Early adult 0.00
decreased heart rate Fbxl3em1(IMPC)Ccpcz HOM   Early adult 8.88×10-05
enlarged testis Fbxl3em1(IMPC)Ccpcz HOM Early adult 0.00
decreased erythrocyte cell number Fbxl3Gt(CB0226)Wtsi HOM Early adult 4.76×10-05
decreased spleen weight Fbxl3em1(IMPC)Ccpcz HOM   Early adult 3.01×10-06
increased circulating alkaline phosphatase level Fbxl3em1(IMPC)Ccpcz HOM Early adult 7.48×10-05
abnormal brain morphology Fbxl3em1(IMPC)Ccpcz HOM Early adult 0.00
increased circulating chloride level Fbxl3em1(IMPC)Ccpcz HOM Early adult 1.77×10-05
increased lean body mass Fbxl3Gt(CB0226)Wtsi HOM Early adult 4.98×10-05

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

30 Images

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X-ray

XRay Images Whole Body Lateral Orientation

15 Images

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X-ray

XRay Images Forepaw

15 Images

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X-ray

XRay Images Skull Lateral Orientation

15 Images

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X-ray

XRay Images Hind Leg and Hip

30 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

15 Images

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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.

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 Similarity of
phenotypes		 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