Gene Summary

Name:
transcription factor AP4
Synonyms:
D930048N17Rik,  Tcfap4,  AP-4,  bHLHc41

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, incomplete penetrance Tfap4tm1.1(KOMP)Vlcg HOM Early adult 0.00
abnormal lumbar vertebrae morphology Tfap4tm1.1(KOMP)Vlcg HOM   Early adult 7.79×10-12
increased mean corpuscular volume Tfap4tm1.1(KOMP)Vlcg HOM   Early adult 5.87×10-06
decreased total body fat amount Tfap4tm1.1(KOMP)Vlcg HOM   Early adult 6.59×10-05
decreased circulating glucose level Tfap4tm1.1(KOMP)Vlcg HOM   Early adult 4.02×10-07
decreased thymus weight Tfap4tm1.1(KOMP)Vlcg HOM Early adult 5.76×10-05
abnormal heart morphology Tfap4tm1.1(KOMP)Vlcg HOM Early adult 0.00
abnormal uterus morphology Tfap4tm1.1(KOMP)Vlcg HOM Early adult 0.00
abnormal sacral vertebrae morphology Tfap4tm1.1(KOMP)Vlcg HOM   Early adult 7.79×10-12
increased lean body mass Tfap4tm1.1(KOMP)Vlcg HOM Early adult 1.58×10-05
enlarged heart Tfap4tm1.1(KOMP)Vlcg HOM Early adult 0.00
decreased heart rate Tfap4tm1.1(KOMP)Vlcg HOM Early adult 1.81×10-07
decreased liver weight Tfap4tm1.1(KOMP)Vlcg HOM Early adult 6.84×10-05
increased red blood cell distribution width Tfap4tm1.1(KOMP)Vlcg HOM   Early adult 5.45×10-05
prolonged RR interval Tfap4tm1.1(KOMP)Vlcg HOM Early adult 3.85×10-08

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Blood N/A heterozygote 0.0% (0 of 2)
Bone marrow N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote Not available
Cecum N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Colon N/A heterozygote 0.0% (0 of 2)
Diaphragm N/A heterozygote 0.0% (0 of 2)
Duodenum N/A heterozygote 50% (1 of 2)
Epididymis N/A heterozygote 50% (1 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote Not available
Gonadal fat pad N/A heterozygote 0.0% (0 of 2)
Harderian gland N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Ileum N/A heterozygote 50% (1 of 2)
Jejunum N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote Not available
Mammary gland N/A heterozygote 0.0% (0 of 2)
Mesenteric adipose tissue N/A heterozygote 0.0% (0 of 2)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 100% (2 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Parotid gland N/A heterozygote 0.0% (0 of 2)
Penis N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 50% (1 of 2)
Quadriceps N/A heterozygote 0.0% (0 of 2)
Sciatic nerve N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote Not available
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 50% (1 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach pyloric region N/A heterozygote Not available
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote Not available
Sublingual gland N/A heterozygote 0.0% (0 of 2)
Submandibular gland N/A heterozygote 0.0% (0 of 2)
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Tongue N/A heterozygote 50% (1 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vagina N/A heterozygote 0.0% (0 of 2)
Vas deferens N/A heterozygote 50% (1 of 2)
Vascular system N/A heterozygote Not available
Vesicular gland N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote Not available
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
blood
bone marrow
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cecum 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
chest bone
colon
diaphragm 0.0%
duodenum 0.0%
epididymis Unavailable
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland
heart 0.0%
hindlimb 0.0%
hippocampus 0.0%
hypothalamus 0.0%
ileum 0.0%
jejunum
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node
midbrain 0.0%
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
stomach pyloric region 0.0%
striatum 0.0%
sublingual gland 0.0%
submandibular gland 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
tongue 0.0%
trachea 0.0%
trigeminal v nerve 0.0%
urinary bladder
uterus 0.0%
vagina 0.0%
vas deferens Unavailable
vascular system 0.0%
vesicular gland Unavailable
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

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 Lateral Orientation

11 Images

X-ray

XRay Images Whole Body Dorso Ventral

11 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

7 Images

X-ray

XRay Images Forepaw

7 Images

Adult LacZ

LacZ Images Section

20 Images

X-ray

XRay Images Hind Leg and Hip

7 Images

X-ray

XRay Images Skull Lateral Orientation

7 Images

Human diseases caused by Tfap4 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

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

The table below shows human diseases predicted to be associated to Tfap4 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Ventricular hypertrophy, Failure to thrive, Hypoglycemia, Congestive heart failure, Elevated circ... OMIM:619048
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Erythroid hyperplasi... OMIM:616860
Atrial Standstill
Atrial standstill, Abnormal P wave, Cardiomyopathy, Congestive heart failure, Left ventricular no... ORPHA:1344
Chronic Atrial And Intestinal Dysrhythmia
Atrial flutter, Failure to thrive, Ventricular escape rhythm, Mitral regurgitation, Decreased bod... OMIM:616201
Anemia, Congenital Dyserythropoietic, Type Ib
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Anisocytos... OMIM:615631
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Increased mean corpuscular volume, Second degree atrioventricular block, Extramedullary hematopoi... OMIM:617021
Sinoatrial Node Dysfunction And Deafness
Increased heart rate variability, Syncope, Abnormal QRS complex, Bradycardia OMIM:614896
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Increased mean corpuscular volume, Failure to thrive, Persistence of hem... OMIM:612561
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy... OMIM:616689
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reduced red cell pyruvate kinase level, Congenital hemolytic anemia, Abnormal erythrocyte morphol... ORPHA:766
Anemia, Congenital Dyserythropoietic, Type Iv
Increased RBC distribution width, Persistence of hemoglobin F, Hypertrophic cardiomyopathy, Hepat... OMIM:613673
Coenzyme Q10 Deficiency, Primary, 7
Hypoplastic left heart, Hypertrophic cardiomyopathy, Ventricular septal defect, Bradycardia, Scol... OMIM:616276
Dehydrated Hereditary Stomatocytosis
Cholelithiasis, Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemog... ORPHA:3202
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Bone marrow hypocellularity, Increased mean corpuscular volume, Pancytopenia, Acute myeloid leuke... OMIM:619041
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Anemia, Sideroblastic anemia, Decreased mean corpuscular volume, Hypochromia OMIM:205950
Atrial Fibrillation, Familial, 18
Third degree atrioventricular block, Paroxysmal atrial fibrillation, Palpitations, Permanent atri... OMIM:617280
Bone Marrow Failure And Diabetes Mellitus Syndrome
Type I diabetes mellitus, Pancytopenia, T-cell acute lymphoblastic leukemias, Increased mean corp... OMIM:620044
Long Qt Syndrome 15
Ventricular bigeminy, Left ventricular noncompaction, 2:1 atrioventricular block, Sinus bradycard... OMIM:616249
Thrombocytopenia 5
Epistaxis, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thromb... OMIM:616216
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Cryptorchidism, Anemia of inadequate production, Anisocytosis, Poikilocytosis... ORPHA:67044
Intrinsic Factor Deficiency
Megaloblastic anemia, Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Inc... OMIM:261000
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Cryptorchidism, Bradycardia, Micropenis, Fle... OMIM:618815
Dominant Beta-Thalassemia
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypopituitarism,... ORPHA:231226
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... OMIM:300946
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Increased mean corpuscular volume, Pulmonary embolism, Splenomegaly, Reticulocyto... OMIM:185000
Long Qt Syndrome 16
Second degree atrioventricular block, T-wave alternans, Perimembranous ventricular septal defect,... OMIM:618782
Carnitine-Acylcarnitine Translocase Deficiency
Ventricular hypertrophy, Hypotension, Atrioventricular block, Elevated circulating hepatic transa... OMIM:212138
Atrial Fibrillation, Familial, 10
Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Permanent atrial fibrill... OMIM:614022
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... ORPHA:2133
Myopathy, Myofibrillar, 1
Restrictive cardiomyopathy, Dilated cardiomyopathy, Third degree atrioventricular block, Hypertro... OMIM:601419
Methylcobalamin Deficiency Type Cble
Increased mean corpuscular volume, Failure to thrive, Pancytopenia, Abnormality of the liver, Mac... ORPHA:2169
Congenital Dyserythropoietic Anemia Type Iii
Melena, Elevated circulating hepatic transaminase concentration, Increased mean corpuscular volum... ORPHA:98870
Attrv122I Amyloidosis
Aortic valve stenosis, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, Congesti... ORPHA:85451
Overhydrated Hereditary Stomatocytosis
Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis... ORPHA:3203
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Bone marrow hypocellularity, Abnormal neutrophil morphology, Leukopenia, Abnormal erythrocyte mor... ORPHA:86841
Congenital Heart Block
Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block... ORPHA:60041
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Splenomegaly, Anemia of inadequate pr... OMIM:224120
Mitochondrial Complex I Deficiency, Nuclear Type 13
Failure to thrive, Hypertrophic cardiomyopathy, Bradycardia, Hepatomegaly, Cardiac arrest OMIM:618235
Timothy Syndrome
Atrioventricular block, Hypoglycemia, Tetralogy of Fallot, Patent foramen ovale, Ventricular sept... OMIM:601005
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Increased mean corpuscular volume, Pancytopenia, Megaloblastic anemia, Thrombocytopenia, Hepatome... OMIM:613839
Combined Oxidative Phosphorylation Deficiency 10
Failure to thrive, Hypoglycemia, Hypertrophic cardiomyopathy, Cardiomegaly, Bradycardia, Pericard... OMIM:614702
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Atrial Septal Defect 6
Atrial fibrillation, Atrial septal defect, Bradycardia OMIM:613087
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Poikilocytosis, Oval macrocytosis, Anemia of inadequate production, Anisocytosis OMIM:603529
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia OMIM:611938
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Sick sinus syndrome, Patent foramen ovale, Bradycardia OMIM:617182
Diamond-Blackfan Anemia 8
Neutropenia, Increased mean corpuscular volume, Macrocytic anemia OMIM:612563
Sudden Cardiac Failure, Infantile
Congestive heart failure, Hypertrophic cardiomyopathy, Bradycardia, Myocarditis, Sudden cardiac d... OMIM:617222
Wild Type Attr Amyloidosis
Aortic valve stenosis, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal EKG, Ortho... ORPHA:330001
Lipodystrophy, Congenital Generalized, Type 4
Insulin resistance, Atrial fibrillation, Elevated circulating hepatic transaminase concentration,... OMIM:613327
Cardiomyopathy, Familial Hypertrophic, 6
Aborted sudden cardiac death, Atrioventricular block, Congestive heart failure, Hypertrophic card... OMIM:600858
Beta-Thalassemia Intermedia
Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, High-output conges... ORPHA:231222
Congenitally Corrected Transposition Of The Great Arteries
Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Arrhyt... ORPHA:216694
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypogonadism, Sideroblastic anemia, Azoospermia, Splenomegaly, Anemia, Hypochromia, Poikilocytosi... OMIM:615234
Sick Sinus Syndrome 2
Aortic regurgitation, Left ventricular noncompaction, Torsade de pointes, Paroxysmal atrial fibri... OMIM:163800
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Left anterior fascicular block, Dilated cardiomyopathy, Atrial flutter, Prolonged QTc interval, C... OMIM:616117
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia OMIM:617173
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Nodular regenerative hyperplasia of liver, Hepatic failure, Increased mean corpuscular volume, Po... OMIM:620367
Sickle Cell Anemia
Splenic infarction, Cholelithiasis, Hypochromic anemia, Pigment gallstones, Increased mean corpus... ORPHA:232
Tako-Tsubo Cardiomyopathy
Dilatation of the ventricular cavity, Mitral regurgitation, Arrhythmia, Ventricular fibrillation,... ORPHA:66529
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Car... OMIM:604765
Ethanolaminosis
Cardiomegaly OMIM:227150
Glycogen Storage Disease Iv
Hepatic failure, Failure to thrive, Cardiomyopathy, Hepatosplenomegaly, Portal hypertension, Cirr... OMIM:232500
Rh Deficiency Syndrome
Stomatocytosis, Hepatosplenomegaly, Reticulocytosis, Macrocytic anemia, Anisocytosis, Jaundice, S... ORPHA:71275
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypertrophic cardiomyopathy, Cryptorchidism, Cardiomegaly, Perimembranous ventricular septal defe... OMIM:620135
Shwachman-Diamond Syndrome
Aplastic anemia, Hypopituitarism, Pancytopenia, Impaired neutrophil chemotaxis, Acute myeloid leu... ORPHA:811
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... OMIM:610629
Eisenmenger Syndrome
Ventricular septal defect, Elevated jugular venous pressure, Atrial septal defect, Hepatomegaly, ... ORPHA:97214
Trimethylaminuria
Splenomegaly, Neutropenia, Anemia, Tachycardia, Hypertension OMIM:602079
Hyperinsulinism Due To Hnf1A Deficiency
Hypoglycemic seizures, Maturity-onset diabetes of the young, Large for gestational age, Palpitati... ORPHA:324575
Majeed Syndrome
Failure to thrive, Microcytic anemia, Hepatosplenomegaly, Erythroid hyperplasia, Anemia of inadeq... OMIM:609628
Bone Marrow Failure Syndrome 6
Bone marrow hypocellularity, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymp... OMIM:618849
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Bradycardia, Ventricular septal defect OMIM:616277
16Q24.3 Microdeletion Syndrome
Dilated cardiomyopathy, Increased mean corpuscular volume, Cryptorchidism, Mitral regurgitation, ... ORPHA:261250
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Myofibe... OMIM:619897
Diamond-Blackfan Anemia 7
Secundum atrial septal defect, Increased mean corpuscular volume, Tetralogy of Fallot, Macrocytic... OMIM:612562
Familial Pseudohyperkalemia
Stomatocytosis, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia, Hy... ORPHA:90044
Beta-Thalassemia Major
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypopituitarism,... ORPHA:231214
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Neonatal death, Bradycardia OMIM:620265
Hemochromatosis, Type 1
Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Congestive heart failure... OMIM:235200
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Multifocal Atrial Tachycardia
Hypotension, Atrial flutter, Abnormal left ventricular function, Hypertrophic cardiomyopathy, Eff... ORPHA:3282
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Left vent... OMIM:601494
Glycogen Storage Disease Of Heart, Lethal Congenital
Hypotension, Cardiomyopathy, Congestive heart failure, Biventricular hypertrophy, Hypertrophic ca... OMIM:261740
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Atrial flutter, Third degree atrioventricular block, Second degree atriov... OMIM:115200
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Failure to thrive, Anisocytosis, Hepatomegaly, Camptodactyly, Flexion contracture OMIM:604273
Congenitally Uncorrected Transposition Of The Great Arteries
Biventricular hypertrophy, Abnormal mitral valve morphology, Abnormal ventriculoarterial connecti... ORPHA:860
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Abnormal oral glucose tolerance, ... ORPHA:276580
Bone Marrow Failure Syndrome 3
Bone marrow hypocellularity, Aplastic anemia, Failure to thrive, Increased mean corpuscular volum... OMIM:617052
Cardiomyopathy, Familial Hypertrophic, 27
Impaired myocardial contractility, Cardiomyocyte hypertrophy, Hypertrophic cardiomyopathy, Concen... OMIM:618052
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Cholelithiasis, Hypertrophic cardiomyopathy, Ventricular septal defect, Persistent fetal circulat... OMIM:618775
Diamond-Blackfan Anemia 1
Bifid thoracic vertebrae, Hypoplastic coccygeal vertebrae, Increased mean corpuscular volume, Fai... OMIM:105650
Orotic Aciduria
Folate-unresponsive megaloblastic anemia, Failure to thrive, Ventricular septal defect, Anisocyto... OMIM:258900
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Atrioventricular block, Failure to thrive, Glucose intolerance, Joint contracture of the 5th fing... OMIM:614407
Familial Short Qt Syndrome
Atrioventricular block, Shortened QT interval, Palpitations, Syncope, Bradycardia, Ventricular ar... ORPHA:51083
Necrotizing Enterocolitis
Hypotension, Abnormal heart morphology, Shock, Hyperglycemia, Leukocytosis, Bradycardia, Abnormal... ORPHA:391673
Atrial Standstill 2
Atrial standstill, Cardiomyopathy, Absent P wave, Atrial cardiomyopathy, Dilatation of the ventri... OMIM:615745
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Atrioventricular block, Congestive heart failure, Hypertrophic cardiomyo... OMIM:115197
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentration, Hypoketotic hypo... OMIM:600649
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Atrioventricular block, Shortened PR interval, Arrhythmia, Syncop... OMIM:604559
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypoglycemic seizures, Hypertroph... ORPHA:276575
Hyperinsulinism Due To Ucp2 Deficiency
Diffuse pancreatic islet hyperplasia, Hypoglycemic seizures, Recurrent hypoglycemia, Hypertrophic... ORPHA:276556
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly... OMIM:300908
Endocardial Fibroelastosis
Restrictive cardiomyopathy, Hypoglycemia, Congestive heart failure, Endocardial fibroelastosis, C... ORPHA:2022
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Macroorchidism, Congestive heart failure, Kyphoscoliosis OMIM:300886
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Failure to thrive, Hepatocellular necrosis, Hepatosplenomegaly, Leukocyt... OMIM:618278
Anemia, Hypochromic Microcytic, With Iron Overload 1
Erythroid hyperplasia, Elevated hepatic iron concentration, Hypochromia, Anemia, Decreased mean c... OMIM:206100
Iron-Refractory Iron Deficiency Anemia
Poikilocytosis, Hypochromic microcytic anemia, Anisocytosis OMIM:206200
Loeffler Endocarditis
Aortic valve stenosis, Restrictive cardiomyopathy, Mitral regurgitation, Arrhythmia, Weight loss,... ORPHA:75566
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Congenital Toxoplasmosis
Elevated circulating hepatic transaminase concentration, Failure to thrive in infancy, Cardiomega... ORPHA:858
Diamond-Blackfan Anemia
Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin... ORPHA:124
Dyskeratosis Congenita, Autosomal Dominant 1
Bone marrow hypocellularity, Aplastic anemia, Increased mean corpuscular volume, Budd-Chiari synd... OMIM:127550
Lipoyltransferase 1 Deficiency
Pulmonary arterial hypertension, Decreased liver function, Elevated circulating hepatic transamin... OMIM:616299
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Cardiomyopathy, Hypogonadism, Arrhythmia, Bradycardia, Diabetes mellitus OMIM:609286
Aminoacylase 1 Deficiency
Bradycardia OMIM:609924
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Patent foramen ovale, Arrhythmia, Bradycardia, Sick sinus syndrome, Pr... ORPHA:542306
Coronary Arterial Fistula
Aortic valve stenosis, Bacterial endocarditis, Continuous heart murmur, Congestive heart failure,... ORPHA:2041
Oslam Syndrome
Abnormality of neutrophils, Increased mean corpuscular volume ORPHA:2760
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Howell-Jolly bodies, Sideroblastic anemia, Pappenheimer bodies, Erythroid hyperplasia, Cryptorchi... OMIM:301310
Long Qt Syndrome 9
Abnormal U wave, Sinus bradycardia, Prolonged QT interval, Syncope, Ventricular arrhythmia, Cardi... OMIM:611818
Refractory Anemia With Excess Blasts
Abnormal mean corpuscular volume, Bone marrow hypocellularity, Palpitations, Leukocytosis, Anemia... ORPHA:86839
Peripartum Cardiomyopathy
Abnormal cardiac atrium morphology, Mitral regurgitation, Elevated jugular venous pressure, Left ... ORPHA:563
Aapoaiv Amyloidosis
Atrial flutter, Hypertrophic cardiomyopathy, Supravalvular aortic stenosis, Cardiac conduction ab... ORPHA:439232
Carnitine Deficiency, Systemic Primary
Failure to thrive, Cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Elevate... OMIM:212140
Incessant Infant Ventricular Tachycardia
Congestive heart failure, Bundle branch block, Cardiac rhabdomyoma, Prolonged QRS complex, Suprav... ORPHA:45453
Coenzyme Q10 Deficiency, Primary, 5
Left ventricular hypertrophy, Bradycardia OMIM:614654
Combined Oxidative Phosphorylation Deficiency 8
Failure to thrive, Congestive heart failure, Hypertrophic cardiomyopathy, Reduced left ventricula... OMIM:614096
Sick Sinus Syndrome 4
Atrioventricular block, Sinoatrial block, Paroxysmal atrial fibrillation, Abnormal QRS complex, A... OMIM:619464
Idiopathic Congenital Hypothyroidism
Prolonged neonatal jaundice, Bradycardia, Umbilical hernia ORPHA:95717
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Paroxysmal atrial fibrillation... OMIM:604772
Congenital Heart Defects, Multiple Types, 3
Atrioventricular block, Abnormal heart morphology, Tetralogy of Fallot, Atrioventricular dissocia... OMIM:614954
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Bone marrow hypocellularity, Macrocytic anemia, Anisocytosis, P... OMIM:300835
Acitretin/Etretinate Embryopathy
Third degree atrioventricular block, Atrioventricular canal defect, Conotruncal defect, Hypoplasi... ORPHA:40366
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Atrial fibrillation, Bradycardia OMIM:614302
Fixed Subaortic Stenosis
Aortic regurgitation, Bacterial endocarditis, Congestive heart failure, Abnormal heart morphology... ORPHA:3092
Pseudo-Torch Syndrome 2
Elevated circulating hepatic transaminase concentration, Secundum atrial septal defect, Bradycard... OMIM:617397
Congenital Myopathy 8
Cardiomegaly, Scoliosis, Congestive heart failure OMIM:618654
Attrv30M Amyloidosis
Atrioventricular block, Cardiomyopathy, Cardiomegaly, Arrhythmia, Weight loss ORPHA:85447
Cirrhotic Cardiomyopathy
Congestive heart failure, Fourth heart sound, Ventricular arrhythmia, Elevated pulmonary artery p... ORPHA:57777
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Joint contracture of the hand, Elevated circulating hepatic transaminase... OMIM:300280
Complete Atrioventricular Septal Defect
Abnormal atrioventricular valve physiology, Abnormal cardiac atrium morphology, Elevated jugular ... ORPHA:1329
Long Qt Syndrome 5
Torsade de pointes, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardiac death, P... OMIM:613695
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Elevated circulating hepatic transaminase concentration, Hypogonadism, Azoospermia, Hepatosplenom... ORPHA:300298
Short Qt Syndrome 2
Shortened QT interval, Syncope, Bradycardia, Atrial fibrillation, Ventricular fibrillation, Sudde... OMIM:609621
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Failure to thrive, Hepatosplenomegaly, Reticulocytosis, Decreased mean corpuscular volume, Hemoly... OMIM:611590
Sepsis In Premature Infants
Hypotension, Decreased liver function, Leukocytosis, Splenomegaly, Bradycardia, Decreased body we... ORPHA:90051
Romano-Ward Syndrome
Abnormal T-wave, Torsade de pointes, Sinus bradycardia, Syncope, Ventricular arrhythmia, Sudden c... ORPHA:101016
Brugada Syndrome
Trifascicular block, Supraventricular tachycardia, Syncope, Paroxysmal ventricular tachycardia, F... ORPHA:130
Infantile Sialic Acid Storage Disease
Failure to thrive, Congestive heart failure, Splenomegaly, Cardiomegaly, Hepatomegaly, Vacuolated... OMIM:269920
Congenital Myopathy 22A, Classic
Tricuspid regurgitation, Bradycardia, Hip contracture, Thoracic scoliosis, Neonatal death, Achill... OMIM:620351
Tropical Endomyocardial Fibrosis
Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur... ORPHA:75565
Progressive Familial Heart Block, Type Ii
Atrioventricular block, Complete heart block with narrow QRS complexes, Sinus bradycardia, Syncop... OMIM:140400
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Goiter, Umbilical hernia, Large for gestational age, Bradycardia, Prolonged neonatal jaundice ORPHA:226313
Combined Oxidative Phosphorylation Defect Type 39
Cryptorchidism, Bradycardia, Neonatal hypoglycemia, Scoliosis, Congenital foot contractures ORPHA:565624
Cardiomyopathy, Familial Hypertrophic, 10
Systolic anterior motion of the mitral valve, Hypertrophic cardiomyopathy, Palpitations, Supraven... OMIM:608758
Long Qt Syndrome 8
Aborted sudden cardiac death, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardia... OMIM:618447
Atrial Fibrillation, Familial, 7
Prolonged QTc interval, Paroxysmal atrial fibrillation, Premature atrial contractions, Palpitatio... OMIM:612240
Propionic Acidemia
Hepatomegaly, Hypoglycemia, Arrhythmia, Cardiomyopathy ORPHA:35
Retinitis Pigmentosa And Erythrocytic Microcytosis
Leukopenia, Elliptocytosis, Anisocytosis, Hypochromia, Poikilocytosis, Anemia, Thrombocytopenia, ... OMIM:616959
Sick Sinus Syndrome 1
Atrioventricular block, Absent P wave, Ventricular escape rhythm, Sinus bradycardia, Prolonged QT... OMIM:608567
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Atrial flutter, Contractures of the large joints, Congestive heart failure... ORPHA:324410
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating hepatic transaminase concentration, Decreased liver function, Hypoglycemia, ... ORPHA:42
Familial Atrial Myxoma
Pulmonic valve myxoma, Bacterial endocarditis, Congestive heart failure, Tricuspid regurgitation,... ORPHA:615
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Dysplastic testes, Partial development of the penile shaft, Cryptorchidism, Testicular dysgenesis... OMIM:608800
Cardiomyopathy, Dilated, 1E
Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Atrial flutter, Premature atri... OMIM:601154
Glutamine Deficiency, Congenital
Camptodactyly, Neonatal death, Flexion contracture, Bradycardia OMIM:610015
Cardiomyopathy, Familial Hypertrophic, 16
Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Palpitations, Left ventr... OMIM:613838
Symptomatic Form Of Hfe-Related Hemochromatosis
Cardiomyopathy, Congestive heart failure, Hyperglycemia, Portal hypertension, Splenomegaly, Cardi... ORPHA:465508
Naxos Disease
Dilated cardiomyopathy, Congestive heart failure, Abnormal heart morphology, Right ventricular ca... OMIM:601214
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hypoketotic hypoglycemia, Reactive hypoglycemia, Pancreatic islet-cell hyperpla... ORPHA:276608
Cardiomyopathy, Familial Hypertrophic, 11
Left anterior fascicular block, Atrial flutter, Subaortic ventricular septal bulge, Hypertrophic ... OMIM:612098
Rh-Null, Amorph Type
Stomatocytosis, Hemolytic anemia, Reticulocytosis, Anisocytosis OMIM:617970
Cardiac Arrhythmia, Ankyrin-B-Related
Sinus bradycardia, Syncope, Prolonged QT interval, Atrial fibrillation, Sudden cardiac death OMIM:600919
Immunodeficiency 96
Increased proportion of gamma-delta T cells, Increased mean corpuscular volume, Conjunctival tela... OMIM:619774
Developmental And Epileptic Encephalopathy 101
Limb joint contracture, Third degree atrioventricular block, Bradycardia OMIM:619814
Mucopolysaccharidosis, Type Iiib
Splenomegaly, Cardiomegaly, Ovoid thoracolumbar vertebrae, Hepatomegaly, Asymmetric septal hypert... OMIM:252920
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Palpitations, Cardiac arrest, Premature ventricular contraction, Syncope, Paroxysmal ventricular ... OMIM:614021
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Prolonged QRS complex, ... OMIM:604400
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Megaloblastic anemia, Increased mean corpuscular volume OMIM:277410
Familial Thyroid Dyshormonogenesis
Prolonged neonatal jaundice, Bradycardia, Goiter, Umbilical hernia ORPHA:95716
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Inguinal hernia, Joint contracture, Bradycardia OMIM:614498
Infant Acute Respiratory Distress Syndrome
Tachycardia, Hypotension, Cardiac arrest, Bradycardia ORPHA:70587
Mitochondrial Complex I Deficiency, Nuclear Type 37
Failure to thrive, Inguinal hernia, Pulmonary arterial hypertension, Bradycardia, Hypospadias OMIM:619272
Long-Olsen-Distelmaier Syndrome
Dilated cardiomyopathy, Secundum atrial septal defect, Failure to thrive, Hypoglycemia, Congestiv... OMIM:620609
Sheehan Syndrome
Secondary growth hormone deficiency, Hypoglycemia, Breast hypoplasia, Obesity, Panhypopituitarism... ORPHA:91355
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Periportal fibrosis, Hepatocellular necrosis, Hypertrophic cardiomyopathy, Reduced left ventricul... OMIM:201475
Elliptocytosis 3
Intermittent jaundice, Pyropoikilocytosis, Elliptocytosis, Decreased mean corpuscular volume, Chr... OMIM:617948
Congenital Disorder Of Glycosylation, Type Im
Hypoketotic hypoglycemia, Dilated cardiomyopathy, Failure to thrive, Bradycardia OMIM:610768
Cantu Syndrome
Platyspondyly, Congenital hypertrophy of left ventricle, Umbilical hernia, Large for gestational ... OMIM:239850
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Atrial fibrillation, Dilated cardiomyopathy, Atrial flutter, Sinoatrial block, Congestive heart f... ORPHA:300751
Histiocytoid Cardiomyopathy
Junctional ectopic tachycardia, Atrioventricular block, Atrial flutter, Failure to thrive, Hypogl... ORPHA:137675
Danon Disease
Myocardial necrosis, Atrioventricular block, Dilated cardiomyopathy, Second degree atrioventricul... OMIM:300257
Proximal Spinal Muscular Atrophy
Elbow flexion contracture, Multiple joint contractures, Knee flexion contracture, Atrial septal d... ORPHA:70
Isolated Right Ventricular Hypoplasia
Bidirectional shunt, Abnormal atrioventricular conduction, Right ventricular failure, Right-to-le... ORPHA:439
Sickle Cell Disease
Splenic infarction, Cholelithiasis, Increased red cell sickling tendency, Leukocytosis, Splenomeg... OMIM:603903
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Ectopic posterior pituitary, Hypoglycemia, Umbilical hernia, Hypopituitarism, Decreased response ... ORPHA:226307
D-Glyceric Aciduria
Micropenis, Failure to thrive, Hypoglycemia, Bradycardia OMIM:220120
Crimean-Congo Hemorrhagic Fever
Pancytopenia, Retinal hemorrhage, Neutrophilia, Hepatomegaly, Tachycardia, Jaundice, Epididymitis... ORPHA:99827
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly, Anemia, Hypoglycemia OMIM:618838
Glossopharyngeal Neuralgia
Abnormality of the cervical spine, Syncope, Weight loss, Bradycardia, Jaw claudication ORPHA:221098
Castleman Disease
Restrictive cardiomyopathy, Follicular hyperplasia, Weight loss, Generalized lymphadenopathy, Lym... ORPHA:160
Neuraminidase Deficiency
Cardiomyopathy, Splenomegaly, Inguinal hernia, Cardiomegaly, Hepatomegaly, Vacuolated lymphocytes... OMIM:256550
Familial Idiopathic Dilatation Of The Right Atrium
Atrioventricular block, Abnormality of the hepatic vasculature, Complete heart block with narrow ... ORPHA:1677
Congenital Disorder Of Glycosylation, Type It
Aborted sudden cardiac death, Intrahepatic cholestasis, Dilated cardiomyopathy, Elevated circulat... OMIM:614921
Mayer-Rokitansky-Küster-Hauser Syndrome
Ectopic ovary, Abnormal form of the vertebral bodies, Aplasia of the ovary, Endometriosis, Verteb... ORPHA:3109
Marburg Hemorrhagic Fever
Neutrophilia in presence of infection, Lymphopenia, Jaundice, Tachycardia, Shock, Abnormal lympho... ORPHA:99826
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Elevated circulating hepatic transaminase concentration, Failure to thrive in infancy, Cardiomega... OMIM:619064
Carnitine Palmitoyltransferase I Deficiency
Elevated circulating hepatic transaminase concentration, Elevated circulating aspartate aminotran... OMIM:255120
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Hypotension, Failure to thrive, Bradycardia, Pulmonary arterial hypertension, Megaloblastic anemi... OMIM:277400
Idiopathic Pulmonary Hemosiderosis
Diffuse alveolar hemorrhage, Failure to thrive, Hepatosplenomegaly, Cardiomegaly, Iron deficiency... ORPHA:99931
Cardiac-Urogenital Syndrome
Biventricular hypertrophy, Cryptorchidism, Congenital diaphragmatic hernia, Ventricular septal de... OMIM:618280
Trichothiodystrophy 6, Nonphotosensitive
Increased HbA2 hemoglobin, Decreased mean corpuscular volume, Small for gestational age OMIM:616943
Arterial Calcification, Generalized, Of Infancy, 2
Cardiogenic shock, Sinus tachycardia, Congestive heart failure, Tricuspid regurgitation, Reduced ... OMIM:614473
Fucosidosis
Kyphosis, Failure to thrive, Abnormality of the gallbladder, Cardiomegaly, Hepatomegaly, Lipoatro... ORPHA:349
Lujo Hemorrhagic Fever
Hypotension, Elevated circulating hepatic transaminase concentration, Shock, Lymphopenia, Leukope... ORPHA:319213
Combined Oxidative Phosphorylation Deficiency 39
Type I diabetes mellitus, Congenital contracture, Sinus bradycardia, Joint contracture, Flexion c... OMIM:618397
Pseudo-Torch Syndrome 3
Lymphadenitis, Leukocytosis, Cardiomegaly, Congenital thrombocytopenia, Cerebral hemorrhage, Anem... OMIM:618886
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Premature ventricular ... OMIM:610193
Isolated Thyroid-Stimulating Hormone Deficiency
Failure to thrive, Increased circulating prolactin concentration, Umbilical hernia, Goiter, Prolo... ORPHA:90674
Tetanus
Tachycardia, Hypertension, Bradycardia ORPHA:3299
Carnitine Palmitoyl Transferase 1A Deficiency
Hepatic failure, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Hypertrop... ORPHA:156
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Fibrofatty replacement of right ventricular myocardium, Dilatation of the ventricular cavity, Rig... OMIM:609040
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatosplenomegaly, Joint contracture of the 5th finger, Mitral valve prolapse, Ventricular septa... OMIM:602782
Mulibrey Nanism
Congestive heart failure, Cardiomegaly, Enamel hypoplasia, Pericardial constriction, Hepatomegaly... OMIM:253250
Neurooculocardiogenitourinary Syndrome
Bilateral cryptorchidism, Tricuspid regurgitation, Patent foramen ovale, Ventricular septal defec... OMIM:618652
Fucosidosis
Anterior beaking of thoracic vertebrae, Failure to thrive, Cervical platyspondyly, Lumbar hyperlo... OMIM:230000
Illum Syndrome
Arthrogryposis multiplex congenita, Bradycardia OMIM:208155
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Obesity ORPHA:88643
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Atrioventricular block, Dilated cardiomyopathy, Elevated circulating hepatic transaminase concent... ORPHA:26793
Heterotaxy, Visceral, 1, X-Linked
Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Hepatomegaly, Hy... OMIM:306955
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Platyspondyly, Hypertrophic cardiomyopathy, Ventricular septal defect, Cardiomegaly, Short neck, ... OMIM:616897
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Corneal scarring, Ventricular septal defect, Bradycardia, Retinal hemorrhage, Tachycardia, Flexio... OMIM:614653
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Dysplastic sacrum, Cardiomegaly, Short neck, Pulmonary arterial hypertension, Severe platyspondyl... OMIM:613320
Amed Syndrome, Digenic
Bone marrow hypocellularity, Failure to thrive, Leukopenia, Acute myeloid leukemia, Thrombocytope... OMIM:619151
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Failu... ORPHA:264580
Craniofaciofrontodigital Syndrome
Aortic valve stenosis, Gastrointestinal hemorrhage, Congestive heart failure, Abnormal heart valv... ORPHA:363705
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated circulating hepatic transaminase concentration, Glycosuria, Large for gestational age, H... ORPHA:263455
Congenital Tricuspid Valve Dysplasia
Small for gestational age, Tricuspid regurgitation, Abnormal tricuspid valve annulus morphology, ... ORPHA:555874
Yellow Fever
Pancreatic hyperplasia, Shock, Reduced left ventricular ejection fraction, Elevated circulating a... ORPHA:99829
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Precocious puberty, Postprandial hyperglycemia, Clitoral hypertrophy, Long penis, Insulin-resista... OMIM:262190
Neuroleptic Malignant Syndrome
Hypertensive crisis, Hypotension, Elevated circulating hepatic transaminase concentration, Pulmon... ORPHA:94093
Cardiomyopathy, Familial Hypertrophic, 17
Hypertrophic cardiomyopathy, Palpitations, Angina pectoris, Left ventricular hypertrophy, Ventric... OMIM:613873
Combined Oxidative Phosphorylation Deficiency 42
Hypoglycemia, Decreased liver function, Cardiomyopathy, Neonatal death, Anemia OMIM:618839
Combined Oxidative Phosphorylation Deficiency 40
Hypoglycemia, Decreased liver function, Hypertrophic cardiomyopathy, Neonatal death, Anemia OMIM:618835
Hypothyroidism Due To Tsh Receptor Mutations
Prolonged neonatal jaundice, Thyroid hypoplasia, Bradycardia, Umbilical hernia ORPHA:90673
Orthostatic Hypotension 2
Anemia, Orthostatic hypotension, Hypoglycemia OMIM:618182
Congenital Fibrinogen Deficiency
Hemorrhagic ovarian cyst, Decreased testicular size, Left ventricular hypertrophy, Splenic ruptur... ORPHA:335
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentration, Hypoglycemia, El... OMIM:608836
Stiff-Person Syndrome
Lumbar hyperlordosis, Anemia, Tachycardia, Hypertension, Diabetes mellitus OMIM:184850
Bohring-Opitz Syndrome
Cholelithiasis, Congenital contracture, Annular pancreas, Cardiomegaly, Severe failure to thrive,... ORPHA:97297
Leydig Cell Hypoplasia
Male hypogonadism, Hypoplasia of the Leydig cells, Breast aplasia, Abnormal external genitalia, I... ORPHA:755
3-Methylglutaconic Aciduria, Type Viii
Failure to thrive, Neonatal death, Neutropenia, Bradycardia, Jaundice, Neonatal hypoglycemia OMIM:617248
Imerslund-Gräsbeck Syndrome
Anisopoikilocytosis, Failure to thrive, Hypersegmentation of neutrophil nuclei, Pancytopenia, Ret... ORPHA:35858
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Sinus bradycardia, Ventricular septal defect OMIM:126320
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Abnormal EKG, Reduced left ventricular ejection fraction, Cardiomegaly, Hyperlordosis, Right bund... ORPHA:268
Ciliary Dyskinesia, Primary, 53
Polysplenia, Abdominal situs inversus, Situs inversus totalis, Patent foramen ovale, Cardiomegaly... OMIM:620642
Mitochondrial Complex I Deficiency, Nuclear Type 20
Hepatic failure, Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentration,... OMIM:611126
Congenital Erythropoietic Porphyria
Leukopenia, Erythroid hyperplasia, Splenomegaly, Reticulocytosis, Anisocytosis, Increased connect... ORPHA:79277
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly, Enamel hypoplasia OMIM:613576
Cantú Syndrome
Platyspondyly, Umbilical hernia, Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cu... ORPHA:1517
Glycogen Storage Disease Ixc
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Splenomegaly, Increased he... OMIM:613027
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Insulin insensitivity, Bifi... ORPHA:90797
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Cardiomegaly, Pulm... OMIM:619051
Interatrial Communication
Right ventricular dilatation, Secundum atrial septal defect, Atrial flutter, Congestive heart fai... ORPHA:1478
Refsum Disease, Classic
Cardiomegaly, Arrhythmia, Cardiomyopathy, Congestive heart failure OMIM:266500
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly, Scoliosis ORPHA:3137
46,Xy Sex Reversal 11
Elevated circulating luteinizing hormone level, Vanishing testis, Aplasia of the uterus, Elevated... OMIM:273250
Thrombocytopenia-Absent Radius Syndrome
Tetralogy of Fallot, Aplasia of the uterus, Thrombocytopenia, Abnormal cardiac septum morphology,... ORPHA:3320
Combined Oxidative Phosphorylation Deficiency 33
Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Cardiomegaly, Left ventr... OMIM:617713
Drug-Induced Autoimmune Hemolytic Anemia
Tachycardia, Congestive heart failure, Splenomegaly, Autoimmune hemolytic anemia ORPHA:90037
Glycogen Storage Disease Ii
Sinus tachycardia, Splenomegaly, Shortened PR interval, Cardiomegaly, Subarachnoid hemorrhage, Ri... OMIM:232300
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Syncope, Palpitations, Second degree atrioventricular block, Sinus bradycardia OMIM:616812
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Failure to thrive, Hypertrophic cardiomyopathy, Shortened PR interval, Cardiomegaly, Left ventric... ORPHA:308552
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatic failure, Cardiomyopathy, Hypoketotic hypoglycemia, Hepatic steatosis, Cardiomegaly, Hepat... ORPHA:228308
Mucolipidosis Ii Alpha/Beta
Atlantoaxial dislocation, Hypoplasia of the odontoid process, Lower thoracic interpediculate narr... OMIM:252500
Mogs-Cdg
Hepatosplenomegaly, External genital hypoplasia, Thoracic scoliosis, Cardiomegaly, Left ventricul... ORPHA:79330
Meacham Syndrome
Aortic valve stenosis, Hypoplastic left heart, Abnormal vagina morphology, Hydrometrocolpos, Tetr... ORPHA:3097
Lethal Congenital Contracture Syndrome 10
Ventricular septal defect, Cardiomegaly, Hypoplasia of the thymus, Overriding aorta, Short neck, ... OMIM:617022
Gaucher Disease, Type Iiic
Aortic valve calcification, Pancytopenia, Splenomegaly, Mitral stenosis, Cardiomegaly, Mitral val... OMIM:231005
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Hypotension, Chronic myelomonocytic leukemia, Syncope, Leukocytosis, Splenomeg... ORPHA:98849
46,Xy Sex Reversal 3
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Ambiguo... OMIM:612965
Cardiac Diverticulum
Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, P... ORPHA:1686
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Male hypogonadism, Abnormal vagina morphology, Gonadal dysgenesis, Abnormal female external genit... ORPHA:168563
Gaucher Disease, Perinatal Lethal
Hepatic failure, Hepatosplenomegaly, Splenomegaly, Decreased body weight, Cardiomegaly, Neonatal ... OMIM:608013
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Midshaft hypospadias, Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnor... ORPHA:168558
Complete Androgen Insensitivity Syndrome
Elevated circulating luteinizing hormone level, Abnormal morphology of female internal genitalia,... ORPHA:99429
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Secundum atrial septal defect, Congestive heart failure, Tricuspid regurgit... OMIM:620066
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Perimembranous ventricular septal defect OMIM:619170
Ogden Syndrome
Torsade de pointes, Cryptorchidism, Ventricular septal defect, Bicuspid aortic valve, Short neck,... OMIM:300855
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Midshaft hypospadias, Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnor... ORPHA:289548
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Male hypogonadism, Precocious puberty in females, Elevated circulating luteinizing hormone level,... ORPHA:90793
Proteasome-Associated Autoinflammatory Syndrome 1
Microcytic anemia, Arrhythmia, Flexion contracture of finger, Hepatomegaly, Epididymitis, Lymphad... OMIM:256040
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Cardiomegaly, Hypoglycemia ORPHA:391428
Autoimmune Hemolytic Anemia, Warm Type
Congestive heart failure, Splenomegaly, Autoimmune hemolytic anemia, Chronic lymphatic leukemia, ... ORPHA:90033
Microphthalmia, Syndromic 9
Hypoplastic left atrium, Multilobulated spleen, Tetralogy of Fallot, Congenital diaphragmatic her... OMIM:601186
Autoinflammatory Disease, Systemic, With Vasculitis
Hepatic fibrosis, Failure to thrive, Parotitis, Cholestasis, Elevated circulating aspartate amino... OMIM:620376
Absence Of The Pulmonary Artery
Atrial flutter, Congestive heart failure, Abnormal heart morphology, Tetralogy of Fallot, Reduced... ORPHA:980
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Absent external genitalia, Block vertebrae, Supernumerary vertebrae, Inguinal hernia, Aplasia of ... OMIM:271520
Congenital Disorder Of Glycosylation, Type Iiaa
Persistent patent ductus venosus, Hepatic fibrosis, Hepatic failure, Nodular regenerative hyperpl... OMIM:620454
45,X/46,Xy Mixed Gonadal Dysgenesis
Streak ovary, Abnormal scrotum morphology, Cryptorchidism, Bicuspid aortic valve, Chordee, Abnorm... ORPHA:1772
Aorta Coarctation
Hypoplastic left heart, Congestive heart failure, Tetralogy of Fallot, Cardiomegaly, Bicuspid aor... ORPHA:1457
Abetalipoproteinemia
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Failure to thrive, Con... ORPHA:14
Double Outlet Left Ventricle
Failure to thrive, Cryptorchidism, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary va... ORPHA:3427
Pagod Syndrome
Hypoplastic left heart, Abnormality of the uterus, Abnormal morphology of female internal genital... ORPHA:991
Hydatidiform Mole
Anemia, Enlarged uterus ORPHA:99927
Meckel Syndrome 14
Hepatic fibrosis, Tricuspid regurgitation, Mitral regurgitation, Aplasia of the uterus, Short nec... OMIM:619879
Encephalitis Lethargica
Bradycardia ORPHA:83600
Pancreatic And Cerebellar Agenesis
Secundum atrial septal defect, Failure to thrive, Pancreatic hypoplasia, Hypoglycemia, Hyperglyce... OMIM:609069
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Abnormality of the uterus, Vaginal neoplasm, Cryptorchidism, Testicular... ORPHA:1916
Developmental And Epileptic Encephalopathy 95
Umbilical hernia, Inguinal hernia, Cryptorchidism, Multiple joint contractures, Cardiomegaly, Hep... OMIM:618143
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Azoospermia, Hypoplasia of the uterus, Abnormality of the vertebral column, Bicornuate uterus OMIM:601076
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Lumbar hemivertebrae, Eunuchoid habitus, Loss of truncal subcutaneous adipose tissue, Cardiomegal... ORPHA:2463
Aicardi-Goutières Syndrome
Neonatal alloimmune thrombocytopenia, Scoliosis, Elevated circulating hepatic transaminase concen... ORPHA:51
46,Xx Ovotesticular Difference Of Sex Development
Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno... ORPHA:2138
Satoyoshi Syndrome
Abnormality of the uterus, Abnormality of the ovary, Hypoplasia of the ovary, Hyperlordosis, Hypo... ORPHA:3130
Liver Disease, Severe Congenital
Portal inflammation, Dilatation of the ventricular cavity, Hepatic steatosis, Ventricular septal ... OMIM:619991
Premature Ovarian Failure 7
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Elevate... OMIM:612964
Beckwith-Wiedemann Syndrome
Pancreatic hyperplasia, Cardiomyopathy, Overgrowth of external genitalia, Cryptorchidism, Cardiom... OMIM:130650
Glycogen Storage Disease Due To Acid Maltase Deficiency
Vasculitis, Failure to thrive, Hypertrophic cardiomyopathy, Transient ischemic attack, Shortened ... ORPHA:365
Severe Generalized Junctional Epidermolysis Bullosa
Dilated cardiomyopathy, Failure to thrive, Enamel hypoplasia, Bradycardia, Anemia ORPHA:79404
Mucopolysaccharidosis Type 3
Atrioventricular block, Abnormal form of the vertebral bodies, Umbilical hernia, Reduced left ven... ORPHA:581
Sandhoff Disease
Hepatomegaly, Hepatosplenomegaly, Cardiomegaly, Orthostatic hypotension OMIM:268800
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Aortic regurgitation, Abnormality of connective tissue, Transient ischemic attack, Ischemic strok... ORPHA:91387
Müllerian Aplasia And Hyperandrogenism
Abnormal vagina morphology, Abnormality of the ovary, Obesity, Short neck, Hypoplasia of the uterus ORPHA:247768
Cutis Laxa, Autosomal Recessive, Type Ib
Tricuspid regurgitation, Inguinal hernia, Congenital diaphragmatic hernia, Neonatal death, Scarri... OMIM:614437
Hypothyroidism, Congenital, Nongoitrous, 2
Goiter, Umbilical hernia, Bradycardia, Thyroid hypoplasia, Ectopic thyroid OMIM:218700
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Parathyroid hypoplasia, Uterus didelphys, Abnormal heart morphology, Septate vagina, Hypoparathyr... ORPHA:2237
Familial Aortic Dissection
Cardiomegaly, Aortic regurgitation, Abnormal left ventricular function ORPHA:229
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Platyspondyly, Elbow flexion contracture, Inguinal hernia, Congenital diaphragmatic hernia, Mitra... OMIM:245600
Truncus Arteriosus
Aortic regurgitation, Abnormal heart morphology, Tetralogy of Fallot, Abnormal heart valve morpho... ORPHA:3384
Linear Skin Defects With Multiple Congenital Anomalies 1
Junctional ectopic tachycardia, Clitoral hypertrophy, Congenital diaphragmatic hernia, Histiocyto... OMIM:309801
Beckwith-Wiedemann Syndrome
Congenital diaphragmatic hernia, Cryptorchidism, Hepatoblastoma, Hepatomegaly, Neonatal hypoglyce... ORPHA:116
Oeis Complex
Absence of the sacrum, Ambiguous genitalia, female, Absent scrotum, Cryptorchidism, Sacral segmen... OMIM:258040
Estrogen Resistance
Breast aplasia, Hyperinsulinemia, Glucose intolerance, Polycystic ovaries, Hypoplasia of the uter... OMIM:615363
Tyrosinemia, Type I
Gastrointestinal hemorrhage, Hepatic failure, Elevated circulating hepatic transaminase concentra... OMIM:276700
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomegaly, Increased hepatic glycogen content, Cardiomyopathy, Congestive heart failure OMIM:619259
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hematocolpos, Abnormal female external genitalia morphology, Aplasia of the vagina, Polycystic ov... OMIM:277000
Abnormal Hair, Joint Laxity, And Developmental Delay
Tricuspid regurgitation, Mitral regurgitation, Sinus bradycardia OMIM:261990
Paternal Uniparental Disomy Of Chromosome 6
Precocious puberty, Neonatal insulin-dependent diabetes mellitus, Umbilical hernia, Labial hypert... ORPHA:96191
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Kyphosis, Left ventricular noncompaction, Slender build, Left ventricular noncompaction cardiomyo... OMIM:300967
Perrault Syndrome 3
Elevated circulating luteinizing hormone level, Streak ovary, Elevated circulating follicle stimu... OMIM:614129
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Decreased testicular size, Cryptorchidism, Hypogonadotropic hypogonadism, Hypoplasia of the ovary... OMIM:614841
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Clitoral hypertrophy, Long penis, Precocious puberty in females, Failure to thrive, Hypotension, ... ORPHA:90794
Lethal Acantholytic Erosive Disorder
Hypovolemic shock, Cardiomyopathy, Camptodactyly of toe, Cardiomegaly, Impaired myocardial contra... ORPHA:158687
Ovarian Dysgenesis 7
Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Elevated circulating fo... OMIM:618117
Ovarian Dysgenesis 2
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism OMIM:300510
Normosmic Congenital Hypogonadotropic Hypogonadism
Male hypogonadism, Non-obstructive azoospermia, Decreased testicular size, Azoospermia, Eunuchoid... ORPHA:432
Thrombocytopenia-Absent Radius Syndrome
Tetralogy of Fallot, Atrioventricular canal defect, Hepatosplenomegaly, Leukocytosis, Ventricular... OMIM:274000
Seckel Syndrome 7
Lumbar scoliosis, Hypoplasia of the uterus OMIM:614851
Estrogen Resistance Syndrome
Breast hypoplasia, Hyperinsulinemia, Glucose intolerance, Enlarged polycystic ovaries, Increased ... ORPHA:785
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Decreased testicular size, Azoospermia, Cryptorchidism, Hypogonadotropic hypogonadism, Micropenis... OMIM:614837
Ovarian Dysgenesis 5
Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Elevated circulating fo... OMIM:617690
Townes-Brocks Syndrome 2
Scoliosis, Bifid uterus, Spina bifida occulta, Rectovaginal fistula, Hypospadias OMIM:617466
Fanconi Anemia, Complementation Group L
Bone marrow hypocellularity, Hypoplastic sacrum, Aplasia of the uterus, Anemia, Short neck, Micro... OMIM:614083
Holt-Oram Syndrome
Atrioventricular dissociation, Mitral regurgitation, Mitral valve prolapse, Ventricular septal de... OMIM:142900
Amyloidosis, Hereditary Systemic 1
Cardiomegaly, Orthostatic hypotension due to autonomic dysfunction, Cardiomyopathy OMIM:105210
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Hepatic sinusoidal dilatation, Tricuspid regurgitation, Cryptorchidism, Patent foramen ovale, Dec... OMIM:620371
Ovarian Dysgenesis 6
Hypoplasia of the uterus, Hypergonadotropic hypogonadism OMIM:618078
Perrault Syndrome 4
Obesity, Hypoplasia of the ovary, Increased circulating gonadotropin level, Hypoplasia of the ute... OMIM:615300
Arterial Calcification, Generalized, Of Infancy, 1
Dilated cardiomyopathy, Congestive heart failure, Cardiomegaly, Hypertension, Myocardial infarction OMIM:208000
Premature Ovarian Failure 6
Hypoplasia of the uterus, Streak ovary, Elevated circulating follicle stimulating hormone level, ... OMIM:612310
Renal And Mullerian Duct Hypoplasia
Aplasia of the uterus, Anteriorly displaced urethral meatus, Hydrocele testis OMIM:266810
Myoectodermal Gonadal Dysgenesis Syndrome
Accessory spleen, Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Hypoplastic... OMIM:618419
Renal Cysts And Diabetes Syndrome
Elevated circulating hepatic transaminase concentration, Pancreatic hypoplasia, Glycosuria, Matur... OMIM:137920
Ovarian Dysgenesis 9
Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating follicle stimulating horm... OMIM:619665
Williams Syndrome
Type II diabetes mellitus, Cryptorchidism, Mitral valve prolapse, Polycystic ovaries, Ventricular... ORPHA:904
Beck-Fahrner Syndrome
Cardiomegaly, Ventricular septal defect OMIM:618798
Premature Ovarian Failure 18
Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating follicle stimulating horm... OMIM:619203
Okamoto Syndrome
Aortic valve stenosis, Abnormal heart morphology, Abnormal left ventricle morphology, Splenomegal... ORPHA:2729
Neurodegeneration And Seizures Due To Copper Transport Defect
Glandular hypospadias, Tricuspid regurgitation, Cardiomegaly OMIM:620306
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Mitral regurgitation, Ventricular septal defect, Atrial septal defect, De... ORPHA:99125
Premature Ovarian Failure 13
Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level OMIM:617442
Wolf-Hirschhorn Syndrome
Precocious puberty, Accessory spleen, Kyphosis, Failure to thrive, Abnormal form of the vertebral... OMIM:194190
Perrault Syndrome 6
Hypoplasia of the uterus, Streak ovary OMIM:617565
Mullerian Aplasia And Hyperandrogenism
Aplasia of the uterus, Abnormal external genitalia, Aplasia of the fallopian tube, Aplasia of the... OMIM:158330
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Scoliosis, Kyphosis, Sinus bradycardia OMIM:619482
Testicular Agenesis
Absent external genitalia, Hypoplasia of the uterus, Vanishing testis, Ambiguous genitalia, Uroge... ORPHA:325124
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Clitoral hypertrophy, Long penis, Precocious puberty in males, Congenital adrenal hyperplasia, De... OMIM:202010
46,Xx Sex Reversal 2
Small scrotum, Elevated circulating luteinizing hormone level, Bifid scrotum, Non-obstructive azo... OMIM:278850
46,Xy Sex Reversal 7
Sex reversal, Hypoplasia of the fallopian tube, Streak ovary, Abnormal epididymis morphology, Gon... OMIM:233420
Premature Ovarian Failure 3
Hypoplasia of the uterus OMIM:608996
Woodhouse-Sakati Syndrome
Insulin-resistant diabetes mellitus, Abnormal T-wave, Hypogonadism, Decreased testicular size, De... ORPHA:3464
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Uterus didelphys, Septate vagina, Aplasia of the vagina, Aplasia of the uterus, Hypoparathyroidism OMIM:146255
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Elevated circulating luteinizing hormone level, Failure to thrive, Decreased testicular size, Cry... ORPHA:90796
Ehlers-Danlos Syndrome, Vascular Type
Diffuse alveolar hemorrhage, Cigarette-paper scars, Uterine rupture, Arterial rupture, Cystocele,... OMIM:130050
Lumbar Syndrome
Bifid scrotum, Cryptorchidism, Hypoplastic labia majora, Ambiguous genitalia, Micropenis, Bifid u... ORPHA:83628
Congenital Tracheomalacia
Failure to thrive, Abnormal heart morphology, Tetralogy of Fallot, Ventricular septal defect, Car... ORPHA:95430
Woodhouse-Sakati Syndrome
Abnormal T-wave, Decreased testicular size, Hypogonadotropic hypogonadism, Micropenis, Hypoplasia... OMIM:241080
Hydrolethalus Syndrome 1
Accessory spleen, Abnormal vagina morphology, Complete atrioventricular canal defect, Ventricular... OMIM:236680
Chromosome 17Q12 Deletion Syndrome
Elevated circulating hepatic transaminase concentration, Cryptorchidism, Ovarian cyst, Aplasia of... OMIM:614527
Neu-Laxova Syndrome 1
Yellow subcutaneous tissue covered by thin, scaly skin, Joint contracture of the hand, Cryptorchi... OMIM:256520
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Small scrotum, Clitoral hypertrophy, Joint contracture of the hand, Cryptorchidism, Ovarian cyst,... OMIM:201750
46,Xy Sex Reversal 4
Gonadal dysgenesis, Hypoplastic labia majora, Hypoplasia of the uterus, Agonadism, Hypergonadotro... OMIM:154230
Popliteal Pterygium Syndrome
Small scrotum, Bifid scrotum, Cryptorchidism, Hypoplastic labia majora, Spina bifida occulta, Hyp... OMIM:119500
Phocomelia, Schinzel Type
Aplasia/Hypoplasia of the sacrum, Cryptorchidism, Aplasia of the uterus, Short neck, Hypoplasia o... ORPHA:2879
Loeys-Dietz Syndrome
Atypical scarring of skin, Uterine rupture, Camptodactyly of finger, Cardiac arrest, Scoliosis ORPHA:60030
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Aplasia of the uterus, Scoliosis, Inguinal hernia, Aplasia of the vagina ORPHA:457284
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypogonadotropic hypogonadism, Hypoplasia of the uterus OMIM:614842
Meckel Syndrome 12
Vaginal atresia, Hypoplasia of the uterus, Arthrogryposis multiplex congenita OMIM:616258
Yunis-Varon Syndrome
Clitoral hypertrophy, Cardiomyopathy, Tetralogy of Fallot, Cryptorchidism, Ventricular septal def... ORPHA:3472
Coffin-Siris Syndrome 1
Clitoral hypertrophy, Umbilical hernia, Tetralogy of Fallot, Congenital diaphragmatic hernia, Cry... OMIM:135900
Satoyoshi Syndrome
Hypoplasia of the uterus OMIM:600705
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Failure to thrive in infancy, Left ventricular systolic dysfunction, Tra... ORPHA:51608
Exstrophy-Epispadias Complex
Penoscrotal transposition, Bifid scrotum, Abnormal heart morphology, Cystocele, Cryptorchidism, I... ORPHA:322
Alpha-N-Acetylgalactosaminidase Deficiency Type 2