banner
Genes Phenotypes Help, News, Blog

Gene: Ctsa MGI:97748

Log in to follow

Gene Summary

Name:
cathepsin A
Synonyms:
PPCA,  Ppgb

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
decreased hemoglobin content Ctsatm2b(EUCOMM)Hmgu HOM Early adult 3.11×10-06
decreased startle reflex Ctsatm2b(EUCOMM)Hmgu HOM Early adult 1.20×10-05
abnormal head morphology Ctsatm2b(EUCOMM)Hmgu HOM Early adult 8.38×10-07
decreased circulating calcium level Ctsatm2b(EUCOMM)Hmgu HOM Early adult 1.51×10-06
decreased heart rate Ctsatm2b(EUCOMM)Hmgu HOM   Early adult 2.45×10-06
enlarged spleen Ctsatm2b(EUCOMM)Hmgu HOM Early adult 0.00
increased circulating alkaline phosphatase level Ctsatm2b(EUCOMM)Hmgu HOM Early adult 8.82×10-13
tremors Ctsatm2b(EUCOMM)Hmgu HOM Early adult 2.40×10-15
decreased erythrocyte cell number Ctsatm2b(EUCOMM)Hmgu HOM Early adult 3.72×10-10
increased mean corpuscular volume Ctsatm2b(EUCOMM)Hmgu HOM Early adult 1.76×10-08
increased circulating iron level Ctsatm2b(EUCOMM)Hmgu HOM Early adult 2.38×10-07
increased heart weight Ctsatm2b(EUCOMM)Hmgu HOM   Early adult 2.14×10-05
decreased circulating triglyceride level Ctsatm2b(EUCOMM)Hmgu HOM Early adult 1.74×10-06
increased spleen weight Ctsatm2b(EUCOMM)Hmgu HOM Early adult 2.48×10-32
impaired cued conditioning behavior Ctsatm2b(EUCOMM)Hmgu HOM Early adult 2.26×10-06
abnormal startle reflex Ctsatm2b(EUCOMM)Hmgu HOM Early adult 3.11×10-05
abnormal locomotor behavior Ctsatm2b(EUCOMM)Hmgu HOM Early adult 7.12×10-08
abnormal gait Ctsatm2b(EUCOMM)Hmgu HOM Early adult 3.91×10-05
abnormal forelimb morphology Ctsatm2b(EUCOMM)Hmgu HOM Early adult 1.51×10-08
prolonged RR interval Ctsatm2b(EUCOMM)Hmgu HOM Early adult 8.37×10-08
thrombocytopenia Ctsatm2b(EUCOMM)Hmgu HOM Early adult 1.37×10-13
increased circulating aspartate transaminase level Ctsatm2b(EUCOMM)Hmgu HOM Early adult 4.33×10-20
decreased circulating glucose level Ctsatm2b(EUCOMM)Hmgu HOM Early adult 1.28×10-05
decreased locomotor activity Ctsatm2b(EUCOMM)Hmgu HOM   Early adult 1.52×10-05
decreased circulating serum albumin level Ctsatm2b(EUCOMM)Hmgu HOM Early adult 2.22×10-11
narrow eye opening Ctsatm2b(EUCOMM)Hmgu HOM Early adult 8.09×10-11
decreased circulating cholesterol level Ctsatm2b(EUCOMM)Hmgu HOM Early adult 6.11×10-05
decreased circulating total protein level Ctsatm2b(EUCOMM)Hmgu HOM Early adult 1.68×10-14
abnormal hindlimb morphology Ctsatm2b(EUCOMM)Hmgu HOM Early adult 1.51×10-08
decreased circulating HDL cholesterol level Ctsatm2b(EUCOMM)Hmgu HOM Early adult 3.54×10-07
increased mean corpuscular hemoglobin Ctsatm2b(EUCOMM)Hmgu HOM Early adult 2.88×10-08
increased freezing behavior Ctsatm2b(EUCOMM)Hmgu HOM Early adult 9.09×10-12
abnormal freezing behavior Ctsatm2b(EUCOMM)Hmgu HOM Early adult 3.89×10-08
decreased prepulse inhibition Ctsatm2b(EUCOMM)Hmgu HOM Early adult 2.79×10-09
increased monocyte cell number Ctsatm2b(EUCOMM)Hmgu HOM Early adult 3.45×10-06
increased circulating bilirubin level Ctsatm2b(EUCOMM)Hmgu HOM Early adult 2.57×10-09
increased circulating alanine transaminase level Ctsatm2b(EUCOMM)Hmgu HOM Early adult 3.68×10-06
decreased exploration in new environment Ctsatm2b(EUCOMM)Hmgu HOM   Early adult 1.58×10-06
decreased hematocrit Ctsatm2b(EUCOMM)Hmgu HOM Early adult 1.26×10-05

Download data as:  TSV  XLS

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

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.

Phenotype associated images not available

Human diseases caused by Ctsa 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 Ctsa by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Galactosialidosis
Coarse facial features, Nonimmune hydrops fetalis, Visceromegaly, Hepatosplenomegaly OMIM:256540
Galactosialidosis
Coarse facial features ORPHA:351

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hemophagocytic Lymphohistiocytosis, Familial, 1
Decreased HDL cholesterol concentration, Leukopenia, Hypertonia, Hypoalbuminemia, Hyponatremia, H... OMIM:267700
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Hepatomegaly, Ataxia, Gait disturbance ORPHA:2274
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Ptosis, Hypersplenism, Splenomegaly, Anemia, Myoclonus, Hypocholesterolemia, Erlenm... OMIM:610539
Hemophagocytic Lymphohistiocytosis, Familial, 2
Leukopenia, Hypertonia, Hypoalbuminemia, Hyponatremia, Hepatomegaly, Ataxia, Hepatosplenomegaly, ... OMIM:603553
Malaria
Elevated circulating C-reactive protein concentration, Thrombocytopenia, Gait imbalance, Hyperbil... ORPHA:673
Citrullinemia Type Ii
Decreased HDL cholesterol concentration, Acute hyperammonemia, Tremor, Hypoalbuminemia, Hepatic f... ORPHA:247585
Nephronophthisis-Like Nephropathy 2
Recurrent respiratory infections, Renal insufficiency, Polyuria, Periglomerular fibrosis, Stage 5... OMIM:619468
Episodic Ataxia, Type 1
Incoordination, Elevated circulating creatine kinase concentration, Tremor, Babinski sign, Slurre... OMIM:160120
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait OMIM:613227
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Acholic stools, Portal fibro... OMIM:619868
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Sideroblastic anemia, Increased circulating ferritin concentration, Elevated transferrin saturati... OMIM:205950
Optic Atrophy 2
Tremor, Dysdiadochokinesis, Babinski sign OMIM:311050
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Ataxia, Elevated circulating creatine kinase concentration, Tremor, Chorea, Oculomotor apraxia, M... OMIM:208920
Chédiak-Higashi Syndrome
Tremor, Vacuolated lymphocytes, Neutropenia, Abnormal natural killer cell morphology, Hyponatremi... ORPHA:167
Nephronophthisis 1
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Hypertension,... OMIM:256100
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Neonatal hyperbilirubinemia, Anemia of inad... ORPHA:3202
Immunodeficiency 27A
Hypoplasia of the femoral head, Anorexia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Lymphad... OMIM:209950
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Abnormality of thrombocytes, Splenomegaly, Jaundice, Cholestasis, Hypocalcemia, Cog... ORPHA:172
Intrinsic Factor Deficiency
Increased RBC distribution width, Megaloblastic anemia, Increased mean corpuscular volume, Megalo... OMIM:261000
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Hepatomegaly, Tachycardia, Ventricular septal defect, Elevated circulating... ORPHA:26793
Alpha-Heavy Chain Disease
Hepatomegaly, Splenomegaly, Lymphadenopathy, Hypocalcemia, Ascites, Anemia ORPHA:100025
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Pigment gallstones, Microcytic anemia, Abnormality of the sple... ORPHA:232
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Extramedullary hematopoiesis, Overriding aorta, Ventricular septal defect, ... OMIM:617021
Refractory Celiac Disease
Normocytic anemia, Macrocytic anemia, Microcytic anemia, Increased proportion of HLA DR+ T cells,... ORPHA:398063
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hepatomegaly, Pulmonary embolism, Clubbing, Iron deficiency anemia, Clubbing of fingers, Hypoalbu... OMIM:226300
Sandhoff Disease, Adult Form
Elevated circulating creatine kinase concentration, Tremor, Dysphagia, Focal dystonia, Gait ataxi... ORPHA:309169
Dengue Fever
Gastrointestinal hemorrhage, Hepatomegaly, Epistaxis, Cerebral hemorrhage, Leukopenia, Hypotensio... ORPHA:99828
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Splenomegaly, Insulin resistance, Hepatosp... OMIM:612526
Glut1 Deficiency Syndrome 2
Hemolytic anemia, Reticulocytosis, Ataxia, Tremor, Splenomegaly, Choreoathetosis, Irritability, D... OMIM:612126
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... ORPHA:766
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Hyperbili... OMIM:237800
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Leishmaniasis
Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Anorexia, Splenomegaly, Lymphadenopat... ORPHA:507
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Broad-based gait, Reduced systolic function, Microcytic anemia, Dilated cardiomyopa... OMIM:618805
Spinocerebellar Ataxia 43
Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia, Distal sensory impairment OMIM:617018
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Elevated circulating C-reactive protein concentration, Diffuse alveolar hemorrhage,... OMIM:616050
Hypermanganesemia With Dystonia 1
Hepatomegaly, Hypermanganesemia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor co... OMIM:613280
Renal Glucosuria
Polyuria, Enuresis nocturna, Glycosuria, Polydipsia, Polyphagia OMIM:233100
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Jaundice, Increase... OMIM:616689
Leukoencephalopathy, Brain Calcifications, And Cysts
Ataxia, Tremor, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Gait distu... OMIM:614561
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevated circulating C-reactive prote... ORPHA:158057
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Ataxia, Spastic dysarthria, Steppage gait, Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Niemann-Pick Disease, Type B
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Bone-marrow foam cel... OMIM:607616
Episodic Ataxia With Slurred Speech
Tremor, Slurred speech, Gait ataxia ORPHA:401953
Hepatoportal Sclerosis
Gastrointestinal hemorrhage, Portal hypertension, Nodular regenerative hyperplasia of liver, Hype... ORPHA:64743
Spinocerebellar Ataxia 40
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch... OMIM:616053
Primary Intestinal Lymphangiectasia
Hypoproteinemia, Peritoneal effusion, Pericardial effusion, Abnormal lymphatic vessel morphology,... ORPHA:90362
Crigler-Najjar Syndrome Type 1
Tremor, Biliary tract abnormality, Abnormality of the liver, Unconjugated hyperbilirubinemia, Pro... ORPHA:79234
Aicardi-Goutieres Syndrome 6
Hemolytic anemia, Hepatomegaly, Tremor, Splenomegaly, Rigidity, Irritability, Dystonia, Loss of a... OMIM:615010
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly, Leukocytosis, Dil... OMIM:615895
Glutathione Peroxidase Deficiency
Heinz bodies, Neonatal hyperbilirubinemia, Compensated hemolytic anemia OMIM:614164
Cln3 Disease
Extrapyramidal muscular rigidity, Ataxia, Aggressive behavior, Vacuolated lymphocytes, Mental det... ORPHA:228346
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatomegaly, Impaired pain sensation, Tremor, Splenomegaly, Limb ataxia, Gait ataxia, Spasticity... OMIM:616719
Ochoa Syndrome
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Urethral obstructi... ORPHA:2704
Cholestasis, Progressive Familial Intrahepatic, 12
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Cholestasis, Increased serum... OMIM:620010
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Falls, Elevated circulating creatine kinase concentration OMIM:615883
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Pancytopenia, Aplastic anemia, Elevated circulating C-reactive protein concentratio... OMIM:308240
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Anisocytosis, Conjugated hyperbilirubinemia, Splenomegaly, Increased circulating fe... OMIM:616860
Senior-Loken Syndrome 4
Polydipsia, Stage 5 chronic kidney disease, Polyuria, Nephronophthisis OMIM:606996
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Hypertension, Hypoalbuminemia, Ascites, Anemia OMIM:603278
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Postural tremor, Elevated circulating creatine kinase concentration, Elevated circulating alpha-f... ORPHA:64753
Renal Hypoplasia
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... ORPHA:93101
Immunodeficiency 32B
Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Hypoalb... OMIM:226990
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Immunodeficiency 91 And Hyperinflammation
Hepatomegaly, Neutrophilia, Elevated circulating C-reactive protein concentration, Hepatosplenome... OMIM:619644
Nephrotic Syndrome, Type 7
Hemolytic anemia, Hypoalbuminemia, Thrombocytopenia OMIM:615008
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, J... OMIM:603552
Fetal Cytomegalovirus Syndrome
Splenomegaly, Hepatomegaly, Anemia ORPHA:294
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Steppage gait, Hypoalbuminemia, Ataxia OMIM:607250
Autoimmune Hypoparathyroidism
Prolonged QT interval, Confusion, Depression, Abnormal left ventricular function, Irritability, H... ORPHA:36913
Spinocerebellar Ataxia Type 15/16
Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anatomical site, Action t... ORPHA:98769
Immunodeficiency 43
Hypoplasia of the ulna, Radial bowing, Lung abscess, Hypoalbuminemia, B lymphocytopenia, Decrease... OMIM:241600
Infantile Sialic Acid Storage Disease
Hepatomegaly, Epicanthus, Cardiomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Congestive h... OMIM:269920
Ménétrier Disease
Gastrointestinal hemorrhage, Anorexia, Hypochromic microcytic anemia, Hypoalbuminemia, Hypoprotei... ORPHA:2494
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia ORPHA:231249
Methylcobalamin Deficiency Type Cble
Syndactyly, Macrocytic anemia, Pancytopenia, Hypomethioninemia, Hyperhomocystinemia, Hypertension... ORPHA:2169
Spinal Muscular Atrophy, Jokela Type
Elevated circulating creatine kinase concentration, Tremor, Hammertoe, Fasciculations, Difficulty... OMIM:615048
Omenn Syndrome
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... OMIM:603554
Congenital Dyserythropoietic Anemia Type Iii
Anisocytosis, Abnormal erythrocyte morphology, Melena, Increased mean corpuscular volume, Increas... ORPHA:98870
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Clinodactyly of the 5th finger, Lymphopenia, Hypoproteinemia ORPHA:1116
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia, Hypocalcemia, Abnormal heart morphology DECIPHER:16
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypertriglyceridemia, Arachnodactyly, Microcytic anemia, Hepatosplenomegaly, Hypoalbuminemia, Hep... OMIM:619013
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Reticulocytosis, Hyperbilirubinemia, Intermittent jaundice OMIM:179700
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Methylmalonic acidemia, Hypomethioninemia, Spastic ataxia, Megaloblastic anemia, Hyperhomocystine... OMIM:277410
Macrophage Activation Syndrome
Hepatomegaly, Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Spleno... ORPHA:158061
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Hepatomegaly, Autoimmune thrombocytopenia, Follicular hyperplasia... OMIM:614470
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hepatomegaly, Hyperactivity, Hypertriglyceridemia, Ataxia, Tremor, Abnormal pyramidal sign, Myocl... OMIM:615924
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Dystonia, Anorexia, Splenomegaly, Hyperammonemia, Choreoathetosis, Anemia, Cardiomy... ORPHA:79312
Neuroleptic Malignant Syndrome
Elevated circulating creatine kinase concentration, Pulmonary embolism, Tremor, Chorea, Hypocalce... ORPHA:94093
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Splenomegaly, Jaundice, Cholestasis, Hepatic fibrosis, Hypocalcemia, Hepatic bridging fibrosis, E... OMIM:619658
Carnitine-Acylcarnitine Translocase Deficiency
Ventricular hypertrophy, Hepatomegaly, Hypoglycemia, Cardiac arrest, Elevated circulating creatin... OMIM:212138
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Epicanthus, Telecanthus, Atrial septal defect, Splenomegaly, Congestive heart failu... OMIM:617303
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Postural tremor, Unsteady gait, Mental deterioration, Gait ataxia, Normochromic anemia, Hypoalbum... OMIM:254900
Type 1 Diabetes Mellitus
Polydipsia, Polyphagia, Polyuria OMIM:222100
Lymphangiectasia, Intestinal
Intestinal lymphangiectasia, Lymphopenia, Neonatal hypoproteinemia OMIM:152800
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor, Mildly elevated creatine kinase OMIM:614369
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi... OMIM:616278
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Hyperbilirubinemia, Fava bean-induced hemolytic anemia OMIM:618660
Congenital Disorder Of Glycosylation, Type Ij
Aggressive behavior, Tremor, Jaundice, Hypertonia, Clinodactyly of the 5th finger, Hypoproteinemia OMIM:608093
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Reni Syndrome
Hypertriglyceridemia, Ataxia, Hypoglycemia, Hypoalbuminemia, Mental deterioration, Lymphopenia, P... OMIM:617575
Aicardi-Goutieres Syndrome 9
Hypertonia, Hypoalbuminemia, Hepatic fibrosis, Hepatic steatosis, Self-mutilation, Hemolytic anem... OMIM:619487
Rhabdoid Tumor
Cerebral palsy, Hypercalcemia, Lymphadenopathy, Anemia, Hypertension, Irritability, Neoplasm of t... ORPHA:69077
Spinocerebellar Ataxia 20
Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor OMIM:608687
Hemophagocytic Syndrome Associated With An Infection
Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Ataxia, Splenomegaly, Increased circulating fer... ORPHA:158048
Abetalipoproteinemia
Decreased HDL cholesterol concentration, Cardiomegaly, Dysmetria, Gait ataxia, Steppage gait, Hyp... ORPHA:14
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Increased circulating creatine kinase MM isoform, Cardiomyopathy, Hypoalbuminemia, Hypermethionin... OMIM:613752
Wolcott-Rallison Syndrome
Hyponatremia, Metaphyseal dysplasia, Hepatomegaly, Atrial septal defect, Neonatal insulin-depende... ORPHA:1667
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Ventricular hypertrophy, Hepatomegaly, Hypoglycemia, Congestive heart failure, Decreased plasma f... OMIM:619048
Johanson-Blizzard Syndrome
Absent lacrimal punctum, Diabetes mellitus, Dextrocardia, Abnormality of the pancreas, Abnormal c... ORPHA:2315
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Congenital Enterovirus Infection
Abnormal macrophage morphology, Fetal ascites, Pericardial effusion, Myocarditis, Leukocytosis, H... ORPHA:292
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Hepatomegaly, Pancytopenia, Ataxia, Megaloblastic anemia, Jaundice, Eyelid myoclonus, Increased m... OMIM:613839
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatomegaly, Ventricular septal defect, Thyroid lymphangiectasia, Splenomegaly, Postaxial hand p... OMIM:235255
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Intestinal lymphangiectasia, Lymphopenia, Hypoproteinemia OMIM:207731
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome
Ataxia, Cryptorchidism, Fine hair, Gait disturbance, Sparse hair, Triangular face ORPHA:1174
Timothy Syndrome
Prolonged QT interval, Hypoglycemia, Ventricular septal defect, Cardiomegaly, Ventricular tachyca... OMIM:601005
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin sa... OMIM:615234
Ataxia-Oculomotor Apraxia 4
Ataxia, Elevated circulating alpha-fetoprotein concentration, Abnormal pyramidal sign, Tetraplegi... OMIM:616267
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Pulmonary embolism, Splenomegaly, Jaundice, Stom... OMIM:185000
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Clonus, Splenomegaly, Leukocytosis, Fla... OMIM:259720
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Tremor, Spasticity, Babinski sign, Ataxia OMIM:611105
Intermediate Osteopetrosis
Hepatosplenomegaly, Anemia, Hypocalcemia, Erlenmeyer flask deformity of the femurs, Thrombocytopenia ORPHA:210110
Spinocerebellar Ataxia 37
Tremor, Unsteady gait, Frequent falls, Ataxia OMIM:615945
Hyperaldosteronism, Familial, Type Iii
Hypercalciuria, Polydipsia, Hypertension, Polyuria OMIM:613677
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Anisocytosis, Hepatic fibrosis, High-output congestive heart failur... ORPHA:231226
Refractory Anemia With Excess Blasts
Acute myeloid leukemia, Abnormal circulating protein concentration, Anemia of inadequate producti... ORPHA:86839
Spinocerebellar Ataxia Type 31
Tremor, Spasticity, Impaired vibratory sensation, Gait ataxia ORPHA:217012
Combined Oxidative Phosphorylation Deficiency 10
Hypoglycemia, Cardiomegaly, Pericardial effusion, Hyperammonemia, Spasticity, Bradycardia, Dyston... OMIM:614702
Maternal Uniparental Disomy Of Chromosome 4
Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Ataxia, Acanthocytosis,... ORPHA:96180
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:620058
Primary Dystonia, Dyt27 Type
Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman... ORPHA:464440
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Decreased hemoglobin concentration, Hemolytic anemia, Reticulocytosis, Ataxia, Tremor, Hyperbilir... ORPHA:713
Shwachman-Diamond Syndrome
Normocytic anemia, Transient neutropenia, Aplastic anemia, Metaphyseal chondrodysplasia, Metaphys... ORPHA:811
Eosinophilic Gastroenteritis
Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Dysphagia, Hem... ORPHA:2070
Spinocerebellar Ataxia Type 38
Tremor, Somatic sensory dysfunction, Difficulty walking, Gait ataxia ORPHA:423296
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Bradycardia, Mildly elevated creatine kinase, Dysphagia OMIM:620265
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Tremor, Spastic paraplegia OMIM:309560
Beta-Thalassemia Major
Extramedullary hematopoiesis, Hepatic fibrosis, Hepatomegaly, Anemia of inadequate production, Hi... ORPHA:231214
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Ventricular septal defect, Splenomegaly, Postaxial hand polydactyly, Pancreatic lym... ORPHA:1655
Wilson Disease
Decreased circulating ceruloplasmin concentration, Tremor, Hand tremor, Hypoalbuminemia, Limb dys... OMIM:277900
Basal Ganglia Calcification, Idiopathic, 1
Parkinsonism, Tremor, Abnormal circulating calcium concentration, Chorea, Rigidity, Abnormal pyra... OMIM:213600
Glomerulopathy With Fibronectin Deposits 2
Renal insufficiency, Glomerular deposits, Proteinuria, Glomerulomegaly, Stage 5 chronic kidney di... OMIM:601894
Liver Disease, Severe Congenital
Cardiomegaly, Biliary hyperplasia, Abnormal left ventricular function, Leukopenia, Lymphocytosis,... OMIM:619991
Glycine N-Methyltransferase Deficiency
Elevated hepatic transaminase, Hepatomegaly OMIM:606664
Lipoyltransferase 1 Deficiency
Spastic tetraparesis, Hyperglutaminemia, Hyperprolinemia, Abnormality of extrapyramidal motor fun... OMIM:616299
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, H... ORPHA:247598
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo... OMIM:619041
Congenital Disorder Of Glycosylation, Type Ih
Hepatomegaly, Elevated circulating creatinine concentration, Cholestasis, Anemia, Perimembranous ... OMIM:608104
Aceruloplasminemia
Torticollis, Diabetes mellitus, Ataxia, Decreased serum iron, Increased circulating ferritin conc... OMIM:604290
Alg6-Cdg
Ataxia, Jaundice, Decreased LDL cholesterol concentration, Shortening of all distal phalanges of ... ORPHA:79320
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hypertriglyceridemia, Splenomegaly, Thrombocytopenia, Increased circulating ferritin concentratio... OMIM:613101
Dystonia 27
Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy... OMIM:616411
Adenine Phosphoribosyltransferase Deficiency
Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Dysuria, Atrial fibrillatio... ORPHA:976
Familial Hemophagocytic Lymphohistiocytosis
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, J... ORPHA:540
Combined Saposin Deficiency
Hepatomegaly, Splenomegaly, Babinski sign, Hyperkinetic movements, Myoclonus, Fasciculations OMIM:611721
Glomerulopathy With Fibronectin Deposits 1
Glomerulopathy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Lobular glomeru... OMIM:137950
Segawa Syndrome, Autosomal Recessive
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... OMIM:605407
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hepatomegaly, Dystonia, Hemiplegia/hemiparesis, Chorea, Hyperammonemia, Choreoathetosis, Anemia, ... ORPHA:289916
Atypical Pantothenate Kinase-Associated Neurodegeneration
Tremor, Chorea, Abnormal pyramidal sign, Focal dystonia, Compulsive behaviors, Limb dystonia, Par... ORPHA:216873
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Macrocytic anemia, Ventricular septal defect, Short thumb, Mitral valve ... OMIM:612561
Encephalopathy Due To Prosaposin Deficiency
Splenomegaly, Hepatomegaly, Myoclonus, Dystonia ORPHA:139406
Vitamin B12-Unresponsive Methylmalonic Acidemia
Hepatomegaly, Macrocytic anemia, Ataxia, Paraparesis, Hyperammonemia, Choreoathetosis, Leukopenia... ORPHA:27
Nephronophthisis 3
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... OMIM:604387
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Tremor, Vocal cord paresis, Vocal cord paralysis, Difficulty walking OMIM:158580
Osteopetrosis, Autosomal Recessive 1
Hepatomegaly, Pancytopenia, Femur fracture, Splenomegaly, Flared metaphysis, Coxa vara, Anemia, H... OMIM:259700
Lower Motor Neuron Syndrome With Late-Adult Onset
Elevated circulating creatine kinase concentration, Tremor, Inability to walk, Gait disturbance, ... ORPHA:276435
Spinocerebellar Ataxia Type 37
Somatic sensory dysfunction, Tremor, Cogwheel rigidity, Dysdiadochokinesis, Gait disturbance, Myo... ORPHA:363710
Harderoporphyria
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Splenomegaly, Increased circulating ferritin con... OMIM:618892
Myoclonus, Familial, 1
Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor OMIM:614937
Hereditary Spherocytosis
Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Ataxia... ORPHA:822
Diarrhea 13
Hepatic steatosis, Recurrent hypoglycemia, Hypoalbuminemia OMIM:620357
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Dystonia, Upper motor neuron dysfunction ORPHA:401901
Myopathy With Extrapyramidal Signs
Elevated circulating creatine kinase concentration, Clonus, Tremor, Chorea, Choreoathetosis, Extr... OMIM:615673
Beta-Thalassemia
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Hepatitis, Anemia, Irritabili... ORPHA:848
Oligomeganephronia
Renal insufficiency, Pulmonary venous occlusion, Proteinuria, Unilateral renal agenesis, Abnormal... ORPHA:2260
Mitochondrial Trifunctional Protein Deficiency
Tricuspid regurgitation, Equinus calcaneus, Congestive heart failure, Babinski sign, Cholestasis,... ORPHA:746
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Abnormality of the tonsils, Abnormality of the lymphatic s... ORPHA:47
Mitochondrial Complex I Deficiency, Nuclear Type 13
Hepatomegaly, Generalized dystonia, Cardiac arrest, Spasticity, Irritability, Bradycardia, Hypert... OMIM:618235
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... OMIM:202700
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatomegaly, Hypoglycemia, Portal hypertension, Elevated circulating alpha-fetoprotein concentra... OMIM:251880
Al Amyloidosis
Gastrointestinal hemorrhage, Abnormal EKG, Hepatomegaly, Increased circulating NT-proBNP concentr... ORPHA:85443
Necrotizing Enterocolitis
Shock, Hyponatremia, Leukocytosis, Peritonitis, Abnormal heart morphology, Bradycardia, Hypotensi... ORPHA:391673
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Tachycardia, Hypoproteinemia OMIM:221400
Eisenmenger Syndrome
Elevated circulating C-reactive protein concentration, Ventricular tachycardia, Aortopulmonary wi... ORPHA:97214
Congenital Disorder Of Glycosylation, Type Ia
Hepatomegaly, Pericarditis, Ataxia, Tremor, Almond-shaped palpebral fissure, Pericardial effusion... OMIM:212065
Dystonia, Dopa-Responsive
Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Impa... OMIM:128230
Hennekam Lymphangiectasia-Lymphedema Syndrome 2
Pericardial lymphangiectasia, Lymphedema, Pulmonary lymphangiectasia, Abnormal facial shape, Inte... OMIM:616006
Rotor Syndrome
Conjugated hyperbilirubinemia, Conjunctival icterus, Jaundice, Intermittent jaundice, Hyperbiliru... ORPHA:3111
Nephronophthisis 4
Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t... OMIM:606966
Primary Dystonia, Dyt13 Type
Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst... ORPHA:98807
Hyperphenylalaninemia, Bh4-Deficient, C
Dystonia, Progressive neurologic deterioration, Tremor, Dysphagia, Choreoathetosis, Irritability,... OMIM:261630
Relapsing Fever
Tachycardia, Neutrophilia, Epistaxis, Elevated circulating C-reactive protein concentration, Leuk... ORPHA:91547
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hemolytic anemia, Reticulocytosis, Anorexia, Hepatosplenomegaly, Decreased mean corpuscular volum... OMIM:611590
Cholestasis, Progressive Familial Intrahepatic, 11
Hepatomegaly, Abnormal circulating bilirubin concentration, Increased serum bile acid concentration OMIM:619874
Hypocalcemia, Autosomal Dominant 2
Abnormal blood phosphate concentration, Hypocalcemia OMIM:615361
Intellectual Developmental Disorder, Autosomal Recessive 45
Coarse facial features, Round face, Highly arched eyebrow, Synophrys, Flat face, Thick eyebrow OMIM:615979
Albers-Schönberg Osteopetrosis
Abnormal leukocyte morphology, Genu valgum, Hypocalcemia, Abnormal metacarpal morphology, Abnorma... ORPHA:53
Chronic Bilirubin Encephalopathy
Hemolytic anemia, Cerebral palsy, Conjunctival icterus, Abnormal conjunctiva morphology, Hyperton... ORPHA:529808
Acute Bilirubin Encephalopathy
Hemolytic anemia, Cerebral palsy, Conjunctival icterus, Abnormal conjunctiva morphology, Hyperton... ORPHA:529799
Aceruloplasminemia
Decreased circulating ceruloplasmin concentration, Tremor, Chorea, Gait ataxia, Hepatic fibrosis,... ORPHA:48818
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia, Cardiomegaly ORPHA:88643
Spinocerebellar Ataxia Type 20
Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnormal pyramidal sign, Ga... ORPHA:101110
Pearson Syndrome
Abnormality of the liver, Hypocalcemia, Neutropenia, Hepatic steatosis, Reticulocytosis, Hepatome... ORPHA:699
Beta-Thalassemia Intermedia
Increased HbA2 hemoglobin, Hepatomegaly, Extramedullary hematopoiesis, Diabetes mellitus, Anemia ... ORPHA:231222
Gaisböck Syndrome
Hypertriglyceridemia, Angina pectoris, Diabetes mellitus, Myocardial infarction, Splenomegaly, In... ORPHA:90041
Analbuminemia
Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Hypoalbu... OMIM:616000
Bacterial Toxic-Shock Syndrome
Shock, Tachycardia, Elevated circulating creatine kinase concentration, Confusion, Abscess, Myoca... ORPHA:36234
Galloway-Mowat Syndrome 6
Epicanthus, Hypoalbuminemia, Clinodactyly of the 5th finger, Abnormal repetitive mannerisms, Paro... OMIM:618347
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia OMIM:618425
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Increased serum pyruvate, Macrocytic anemia, Ataxia, Splenomegaly, Hyperprolinemia, Cardiomyopath... OMIM:619046
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Hepatomegaly, Polyhydramnios, Fetal ascites, Splenomegaly, Hydrops fetalis OMIM:619462
Spinocerebellar Ataxia, Autosomal Recessive 4
Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ataxia, Myoclonus, Fasc... OMIM:607317
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Leukopenia, Hypoalbuminemia, Conjunctivitis, Atrial septal defect, Patent foramen ovale, Tricuspi... ORPHA:505248
Coenzyme Q10 Deficiency, Primary, 5
Hypertonia, Bradycardia, Dystonia, Left ventricular hypertrophy, Hyperalaninemia OMIM:614654
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Acanthocytosis, Decreased ... OMIM:615558
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Macrocytic anemia, Sparse eyelashes, Persistence of hemoglobin F, Increased mean corpuscular volu... OMIM:300946
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Reticulocytosis, Syndactyly, Hepatomegaly, Anemia of inadequate production, Ani... OMIM:224120
Marburg Hemorrhagic Fever
Elevated circulating creatine kinase concentration, Anorexia, Leukopenia, Hypoalbuminemia, Lethar... ORPHA:99826
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Epicanthus, Ataxia, Rigidity, Metaphyseal widening, Mental deterioration, Diaphyseal sclerosis, S... OMIM:618476
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Tachycardia, Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Maturi... ORPHA:324575
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Impaired glucose tolerance, Long eyebrows, Tapered finger, Long fingers, Atrioventricular block, ... OMIM:614407
3-Methylglutaconic Aciduria Type 1
Hepatomegaly, Progressive cerebellar ataxia, Spastic tetraparesis, Dystonia ORPHA:67046
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Dyskinesia, Limb And Orofacial, Infantile-Onset
Tremor, Chorea, Unsteady gait, Hyperkinetic movements, Hemiballismus, Frequent falls OMIM:616921
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Long eyelashes, Ataxia, Neonatal hyperbilirubinemia ORPHA:3363
Thrombocytopenia 5
Epistaxis, B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia... OMIM:616216
Lymphangiectasia, Pulmonary, Congenital
Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Chylous ascites,... OMIM:265300
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia OMIM:615863
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Anorexia, Clubbing, Hematochezia, Clubbing of fingers, Hypokalemia, Hypocalcemia, Hypomagnesemia,... OMIM:175500
Spinocerebellar Ataxia 38
Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus OMIM:615957
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Severe Neurodegenerative Syndrome With Lipodystrophy
Hepatomegaly, Hyperactivity, Hypertriglyceridemia, Ataxia, Poor motor coordination, Tremor, Insul... ORPHA:363400
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Hyperlipidemia, Jaundice, Cirrhosis, N... OMIM:214900
Autosomal Dominant Spastic Ataxia Type 1
Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Spastic paraplegia, Impaired vibrat... ORPHA:251282
Epilepsy, Progressive Myoclonic, 6
Ataxia, Elevated circulating creatine kinase concentration, Tremor, Myoclonus, Difficulty walking... OMIM:614018
Nephrotic Syndrome, Type 1
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia OMIM:256300
Folate Malabsorption, Hereditary
Ataxia, Folate-responsive megaloblastic anemia, Athetosis, Leukopenia, Irritability, Neutropenia,... OMIM:229050
Bone Marrow Failure And Diabetes Mellitus Syndrome
Type I diabetes mellitus, Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphobla... OMIM:620044
Dystonia 3, Torsion, X-Linked
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... OMIM:314250
2P21 Microdeletion Syndrome
Long eyelashes, Hypocalcemia, Hypoglycemia ORPHA:163693
Celiac Disease, Susceptibility To, 1
Macrocytic anemia, Ataxia, Depression, Iron deficiency anemia, Hypocalcemia, Steatorrhea, Type I ... OMIM:212750
Spinocerebellar Ataxia Type 12
Ataxia, Parkinsonism, Postural tremor, Action tremor, Unsteady gait, Abnormal pyramidal sign, Bra... ORPHA:98762
Rh Deficiency Syndrome
Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Tachycardia, Anisocytosis, Jaundice, Sphero... ORPHA:71275
Tetanus
Tachycardia, Elevated circulating creatine kinase concentration, Tremor, Rigidity, Opisthotonus, ... ORPHA:3299
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Elevated circulating creatine kinase concentration, Tremor, Inability to walk, Fatiguable weaknes... ORPHA:90117
X-Linked Non Progressive Cerebellar Ataxia
Babinski sign, Unsteady gait, Clumsiness, Spastic dysarthria, Nonprogressive cerebellar ataxia, T... ORPHA:314978
Cog4-Cdg
Ataxia, Hepatosplenomegaly, Irritability, Cirrhosis, Hypercholesterolemia, Thrombocytopenia, Limb... ORPHA:263501
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Increased circulating ferritin concentration, Anisopoikilocytosis, Reticulocytopenia, Hepatosplen... ORPHA:300298
Bachmann-Bupp Syndrome
Absent eyebrow, Lower limb spasticity, Sparse eyelashes, Hypoglycemia, Aggressive behavior, Bleph... OMIM:619075
Pyruvate Kinase Deficiency Of Red Cells
Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina... OMIM:266200
Primary Membranoproliferative Glomerulonephritis
Hypertension, Hypoalbuminemia, Myocardial infarction ORPHA:54370
Hijazi-Reis Syndrome
Lower limb spasticity, Ankle clonus, Gait disturbance, Hyperbilirubinemia, Abnormal repetitive ma... OMIM:301094
Gaucher Disease, Type Iii
Hepatomegaly, Pancytopenia, Ataxia, Progressive neurologic deterioration, Splenomegaly, Depressio... OMIM:231000
Glycogen Storage Disease Xii
Normocytic anemia, Hepatomegaly, Epicanthus, Elevated circulating creatine kinase concentration, ... OMIM:611881
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Diabetes mellitus, Parkinsonism, Depression, Cardiomyopathy, Dementia, Gait disturbance, Bradycar... OMIM:609286
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Elevated left ventricular end-diastolic diameter, Polyuria, Dilated cardiomyopathy, Nephrocalcino... OMIM:620152
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type
Waddling gait, Flat face ORPHA:156728
Epilepsy, Progressive Myoclonic, 1B
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus OMIM:612437
Distal Xq28 Microduplication Syndrome
Epistaxis, Impulsivity, Aggressive behavior, Metatarsus adductus, Self-biting, Depression, Upper ... ORPHA:293939
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Metaphyseal dysplasia, Pancytopenia, Hyperactivity, Aplastic anemia, Epic... OMIM:617052
Hemochromatosis, Type 2B
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Congestive heart failur... OMIM:613313
Hemochromatosis, Type 4
Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Increased circulating ferritin conce... OMIM:606069
Peroxisome Biogenesis Disorder 3B
Hepatomegaly, Abnormal facial shape, Ataxia, Flat face OMIM:266510
Edinburgh Malformation Syndrome
Jaundice, Neonatal hyperbilirubinemia OMIM:129850
Enterokinase Deficiency
Hypoproteinemia OMIM:226200
Thrombotic Thrombocytopenic Purpura
Reticulocytosis, Confusion, Myocardial infarction, Microangiopathic hemolytic anemia, Decreased s... ORPHA:54057
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T... OMIM:619802
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Ventricular septal defect, Elevated circulating creatine kinase con... OMIM:618775
Free Sialic Acid Storage Disease
Hepatomegaly, Ataxia, Splenomegaly, Abnormal pyramidal sign, Hydrops fetalis, Athetosis, Abnormal... ORPHA:834
Multiple Sulfatase Deficiency
Hepatomegaly, Coarse facial features, Ataxia, Periorbital edema, Splenomegaly, Spasticity, Flat face OMIM:272200
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Cardiomeg... OMIM:618278
Familial Pseudohyperkalemia
Reticulocytosis, Hyperkalemia, Hypertension, Stomatocytosis, Increased mean corpuscular volume, E... ORPHA:90044
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Broad-based gait, Coarse facial features, Ataxia, Tremor, Dysmetria, Gait ataxia, Dysdiadochokine... OMIM:610185
Trichohepatoenteric Syndrome 1
Aortic regurgitation, Hepatomegaly, Ventricular septal defect, Increased mean platelet volume, Av... OMIM:222470
Hypercalcemia, Infantile, 2
Polyuria, Hypercalciuria, Renal phosphate wasting, Nephrocalcinosis, Medullary nephrocalcinosis OMIM:616963
Achondrogenesis, Type Ib
Flat face, Polyhydramnios, Hydrops fetalis, Edema OMIM:600972
Hypophosphatasia
Bowing of the long bones, Hypercalcemia, Irritability, Abnormal metaphysis morphology, Anemia ORPHA:436
Spinocerebellar Ataxia, Autosomal Recessive 16
Tremor, Babinski sign, Unsteady gait, Limb ataxia, Ankle clonus, Truncal ataxia, Spasticity OMIM:615768
Lipodystrophy, Congenital Generalized, Type 4
Prolonged QT interval, Hepatomegaly, Tachycardia, Atrial fibrillation, Hypertriglyceridemia, Elev... OMIM:613327
Babesiosis
Hemolytic anemia, Hepatomegaly, Confusion, Myocardial infarction, Clinodactyly of the 5th toe, An... ORPHA:108
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Tremor, Kinetic tremor, Gait disturbance OMIM:611808
Congenital Disorder Of Glycosylation, Type Iik
Metaphyseal dysplasia, Hepatomegaly, Elevated circulating creatine kinase concentration, Diaphyse... OMIM:614727
Porphyria Due To Ala Dehydratase Deficiency
Hyponatremia, Restlessness, Confusion, Abnormal erythrocyte enzyme level, Abnormal circulating po... ORPHA:100924
Focal Segmental Glomerulosclerosis 2
Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Focal segmental glomeruloscl... OMIM:603965
Pseudohypoparathyroidism Type 1A
Short metatarsal, Choreoathetosis, Conjunctivitis, Hypocalcemia, Hypocalcemic tetany, Broad dista... ORPHA:79443
Crigler-Najjar Syndrome Type 2
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia, Prolonged neonatal jaundice ORPHA:79235
Senior-Loken Syndrome 3
Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisi... OMIM:606995
Diamond-Blackfan Anemia 8
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia OMIM:612563
Adult Neuronal Ceroid Lipofuscinosis
Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Abnormal heart morphology, Dementia, Abnorma... ORPHA:79262
Hypotonia-Cystinuria Syndrome
Long eyelashes, Hypocalcemia, Polyphagia, Neonatal hypoglycemia, Ptosis OMIM:606407
Mcleod Syndrome
Hepatomegaly, Atrial fibrillation, Elevated circulating creatine kinase concentration, Acanthocyt... OMIM:300842
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Acute myeloid leukemia, Refractory anemia, Leukopenia, Monocytosis, Bone marrow hypocellularity OMIM:616871
Vitamin D-Dependent Rickets, Type 3
Bowing of the legs, Flared metaphysis, Hypocalcemia, Hypophosphatemia, Metaphyseal cupping, Genu ... OMIM:619073
Senior-Loken Syndrome 1
Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen... OMIM:266900
Pseudohypoparathyroidism Type 1B
Prolonged QT interval, Calcinosis, Cortical subperiosteal resorption of humeral metaphyses, Diaph... ORPHA:94089
Hypercholanemia, Familial, 2
Increased serum bile acid concentration, Unconjugated hyperbilirubinemia, Prolonged neonatal jaun... OMIM:619256
Microcornea-Glaucoma-Absent Frontal Sinuses Syndrome
Round face, Flat face ORPHA:2536
Trimethylaminuria
Tachycardia, Splenomegaly, Depression, Hypertension, Neutropenia, Anemia OMIM:602079
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Tremor, Loss of ambulation, Fasciculations OMIM:182980
Anemia, Hypochromic Microcytic, With Iron Overload 1
Decreased mean corpuscular volume, Increased serum iron, Elevated hepatic iron concentration, Ery... OMIM:206100
Coenzyme Q10 Deficiency, Primary, 3
Hypoalbuminemia OMIM:614652
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Salt craving, Polyuria, Renal salt wasting, Enuresis, Hypertension, Hypocalciuria, Renal sodium w... OMIM:612780
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Clinodactyly of the 5th finger, Amegakaryocytic thrombocytopenia, Radioulnar synostosis, Finger s... ORPHA:71289
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... ORPHA:75565
Parkinson Disease 15, Autosomal Recessive Early-Onset
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... OMIM:260300
Vulto-Van Silfhout-De Vries Syndrome
Pain insensitivity, Widow's peak, Fine hair, Gait disturbance, Horizontal eyebrow, Flat face OMIM:615828
Sialidosis Type 2
Hepatomegaly, Coarse facial features, Ataxia, Tremor, Splenomegaly, Hydrops fetalis, Pedal edema,... ORPHA:87876
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Tachycardia, Reactive hypoglycemia, Hypoglycemic seizures, Decreased circulating fr... ORPHA:276556
Diffuse Neonatal Hemangiomatosis
Hepatomegaly, Hypercalcemia, Anemia, Ascites, Thrombocytopenia ORPHA:2123
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Decreased serum iron, Dilated cardiomyopathy, Dysphagia, Depression, Anemia, Decreased circulatin... ORPHA:89842
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Elevated circulating creatine kinase concentration, Tremor, Dementia, Tongue fasciculations, Diff... OMIM:159950
Spastic Ataxia 2, Autosomal Recessive
Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl... OMIM:611302
Spinocerebellar Ataxia 23
Impaired distal proprioception, Tremor, Babinski sign, Impaired vibration sensation in the lower ... OMIM:610245
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Tremor, Chorea, Unsteady gait, Hemiballismus, Frequent falls ORPHA:494526
Avian Influenza
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... ORPHA:454836
Tremor, Hereditary Essential, 1
Postural tremor, Hand tremor, Action tremor OMIM:190300
Megaloblastic Anemia, Folate-Responsive
Folate-responsive megaloblastic anemia, Increased circulating ferritin concentration, Schistocyto... OMIM:601775
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Tachycardia, Hyperinsulinemia, Hypoglycemic seizures, Decreased circulating free fa... ORPHA:276575
Idiopathic Congenital Hypothyroidism
Delayed proximal femoral epiphyseal ossification, Bradycardia, Prolonged neonatal jaundice, Letha... ORPHA:95717
Transaldolase Deficiency
Telangiectasia, Anemia, Hepatosplenomegaly, Biventricular hypertrophy, Abnormal circulating gluta... ORPHA:101028
Cystic Hamartoma Of Lung And Kidney
Hypertension, Multicystic kidney dysplasia, Recurrent respiratory infections, Pulmonary fibrosis ORPHA:2111
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Tachycardia, Maternal diabetes, Hyperinsulinemia, Hypoglycemic seizures, Hypoketoti... ORPHA:276580
Peroxisome Biogenesis Disorder 3A (Zellweger)
Hepatomegaly, Flat face OMIM:614859
Hereditary Elliptocytosis
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Prolo... ORPHA:288
Hypermanganesemia With Dystonia 2
Elevated circulating creatine kinase concentration, Progressive neurologic deterioration, Tremor,... OMIM:617013
Congenital Analbuminemia
Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Low pulse pressure, Hypercholesterolem... ORPHA:86816
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hepatomegaly, Conjugated hyperbilirubinemia, Microvesicular hepatic steatosis, Jaundice, Depletio... OMIM:618528
Drug-Induced Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Tachycardia, Splenomegaly, Congestive heart failure, Increased total... ORPHA:90037
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, H... OMIM:235700
Migraine, Familial Hemiplegic, 1
Ataxia, Confusion, Tremor, Hemiparesis, Agitation, Hemiplegia OMIM:141500
Neurodegeneration With Brain Iron Accumulation 3
Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Subcortical dement... OMIM:606159
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hyperactivity, Polyuria, Renal magnesium wasting, Self-biting, Nephrocalcinosis, Renal potassium ... OMIM:618314
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Hyperactivity, Poor fine motor coordination, Sick sinus syndrome, Bradycardia, Attention deficit ... OMIM:617182
Urocanase Deficiency
Broad-based gait, Ataxia, Dysmetria, Gait ataxia, Truncal ataxia, Action tremor OMIM:276880
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hemolytic anemia, Hepatomegaly, Ataxia, Conjugated hyperbilirubinemia, Splenomegaly, Inability to... OMIM:608885
Isolated Polycystic Liver Disease
Gastrointestinal hemorrhage, Hepatomegaly, Polycystic liver disease, Abnormality of the pancreas,... ORPHA:2924
Hypoparathyroidism, Familial Isolated, 1
Chvostek sign, Irritability, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:146200
Hennekam Lymphangiectasia-Lymphedema Syndrome 3
Polyhydramnios, Lymphedema, Synophrys, Hydrocele testis, Flat face OMIM:618154
Parkinsonism-Dystonia 1, Infantile-Onset
Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog... OMIM:613135
Emery-Nelson Syndrome
Flat face, Low posterior hairline ORPHA:1927
Thrombocytopenia 2
Leukocytosis, Thrombocytopenia OMIM:188000
Chylomicron Retention Disease
Decreased LDL cholesterol concentration, Steatorrhea, Hypoalbuminemia, Hypocholesterolemia, Hypot... OMIM:246700
Overlap Myositis
Subluxation of the small joints of the hand, Diabetes mellitus, Elevated circulating creatine kin... ORPHA:206572
Kenny-Caffey Syndrome, Type 1
Hypomagnesemia, Small hand, Short foot, Hypocalcemia, Short palm, Anemia OMIM:244460
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Bowing of the legs, Subperiosteal bone resorption, Femoral bowing, Tibial bowing, Irritability, F... OMIM:264700
16Q24.3 Microdeletion Syndrome
Ventricular septal defect, Proximal placement of thumb, Highly arched eyebrow, Dilated cardiomyop... ORPHA:261250
X-Linked Sideroblastic Anemia
Abnormality of iron homeostasis, Splenomegaly, Glucose intolerance, Anemia ORPHA:75563
Saccharopinuria
Tremor, Mental deterioration, Hypercystinemia, Hyperammonemia, Gait ataxia, Spastic diplegia, Abn... ORPHA:3124
Aicardi-Goutieres Syndrome 3
Hepatosplenomegaly, Spasticity, Thrombocytopenia, Dystonia OMIM:610329
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Prolonged neonatal jaundice,... OMIM:300908
Genetic Recurrent Myoglobinuria
Hyperkalemia, Highly elevated creatine kinase, Fatigable weakness of swallowing muscles, Hyperpho... ORPHA:99845
Lujo Hemorrhagic Fever
Shock, Resting tremor, Confusion, Elevated circulating C-reactive protein concentration, Myocardi... ORPHA:319213
Tay-Sachs Disease
Increased serum beta-hexosaminidase, Tremor, Dysmetria, Decerebrate rigidity, Progressive spastic... ORPHA:845
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Ataxia, Elevated circulating creatine kinase concentration, Tremor, Dysmetria, Gait ataxia, Hamme... OMIM:618387
Intellectual Developmental Disorder, Autosomal Recessive 48
Waddling gait, Aggressive behavior, Tremor, Inability to walk, Small hand, Narrow palpebral fissu... OMIM:616269
Exercise-Induced Malignant Hyperthermia
Prolonged QT interval, Ataxia, Elevated circulating creatine kinase concentration, Confusion, Hyp... ORPHA:466650
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Hypermanganesemia, Parkinsonism, Tremor, Babinski sign, Scissor gait, Bradykinesia, Ankle clonus,... ORPHA:521406
Autosomal Recessive Progressive External Ophthalmoplegia
Ptosis, Ataxia, Elevated circulating creatine kinase concentration, Depression, Bradykinesia, Car... ORPHA:254886
Pseudohypoparathyroidism Type 1C
Short metatarsal, Conjunctivitis, Hypocalcemia, Hypocalcemic tetany, Broad distal phalanx of the ... ORPHA:79444
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia, Jaundice, Biliary tract abnormality OMIM:237500
Propionic Acidemia
Hepatomegaly, Pancytopenia, Dystonia, Hypoglycemia, Cerebellar hemorrhage, Hyperammonemia, Anemia... OMIM:606054
Dystonia 11, Myoclonic
Tremor, Torticollis, Writer's cramp, Myoclonus OMIM:159900
Hyperphenylalaninemia, Bh4-Deficient, D
Tremor, Hypertonia, Transient hyperphenylalaninemia, Hyperphenylalaninemia OMIM:264070
Glycogen Storage Disease Vii
Hemolytic anemia, Reticulocytosis, Elevated circulating creatine kinase concentration, Jaundice, ... OMIM:232800
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Abnormal cardiac septum morphology, Abnormal hemoglobin, Anemia ORPHA:3319
Thoracomelic Dysplasia
Round face, Gait disturbance, Flat face, Low posterior hairline ORPHA:1803
Gitelman Syndrome
Maternal diabetes, Iron deficiency anemia, Glucose intolerance, Hypocalcemia, Prominent U wave, A... ORPHA:358
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Neurodegeneration With Brain Iron Accumulation 8
Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation OMIM:617917
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Long toe, Hyperextensibility of the finger joints, Absent gallbladder, Atrial septal defect, Vent... ORPHA:163979
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis OMIM:619281
Immune Thrombocytopenia
Thrombocytopenia OMIM:188030
Pontocerebellar Hypoplasia, Type 15
Chronic neutropenia, Spastic tetraplegia, Anemia, Hypertonia, Dystonia, Thrombocytopenia OMIM:619302
Squalene Synthase Deficiency
Epicanthus, Bicuspid aortic valve, Increased circulating farnesol concentration, Decreased LDL ch... OMIM:618156
Oculoskeletodental Syndrome
Hepatomegaly, Epicanthus, Hypercalcemia, Splenomegaly, Lacunar stroke, Hypocalcemia, Short femora... OMIM:618440
Spinocerebellar Ataxia 12
Axial dystonia, Parkinsonism, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis, Head ... OMIM:604326
Hyperbilirubinemia, Rotor Type
Conjugated hyperbilirubinemia, Jaundice OMIM:237450
Autosomal Dominant Hypophosphatemic Rickets
Bowing of the legs, Iron deficiency anemia, Hypocalcemia, Hypophosphatemia, Tooth abscess ORPHA:89937
Al-Raqad Syndrome
Inability to walk, Flat face, Gait ataxia OMIM:616459
Pseudohypoparathyroidism Type 2
Prolonged QT interval, Calcinosis, Hyperphosphatemia, Hypocalcemia, Myoclonic spasms, Hypocalcemi... ORPHA:94090
Coenzyme Q10 Deficiency, Primary, 7
Epicanthus, Ventricular septal defect, Hypoplastic left heart, Bradycardia, Dysphagia, Hypertroph... OMIM:616276
Gm1-Gangliosidosis, Type Ii
Hepatomegaly, Coarse facial features, Ataxia, Splenomegaly, Spastic tetraplegia, Gait disturbance... OMIM:230600
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hepatomegaly, Portal hypertension, Congestive heart failure, Dilated cardiomyopathy, Hepatospleno... ORPHA:367
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Waddling gait, Tremor, Inability to walk, Hepatosplenomegaly, Clumsiness, Eyelid myoclonus, Myocl... ORPHA:2590
Ataxia-Pancytopenia Syndrome
Pancytopenia, Ataxia, Unsteady gait, Babinski sign, Acute myelomonocytic leukemia, Dysmetria, Ane... OMIM:159550
Immunodeficiency 69
Pancytopenia, Splenomegaly, Leukocytosis, Increased circulating ferritin concentration, Hepatospl... OMIM:618963
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Ataxia, Confusion, Tremor, Babinski sign, Gait ataxia, Depression, Dementia, Abnormality of extra... OMIM:615362
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia OMIM:612653
Congenital Disorder Of Glycosylation, Type Iio
Hepatomegaly, Decreased circulating ceruloplasmin concentration, Elevated circulating creatine ki... OMIM:616828
S-Adenosylhomocysteine Hydrolase Deficiency
Short attention span, Elevated circulating creatine kinase concentration, Abnormal circulating ho... ORPHA:88618
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbi... OMIM:616649
Jaundice, Familial Obstructive, Of Infancy
Jaundice, Neonatal hyperbilirubinemia OMIM:308600
Crigler-Najjar Syndrome, Type Ii
Jaundice, Unconjugated hyperbilirubinemia OMIM:606785
Gitelman Syndrome
Prolonged QT interval, Salt craving, Polyuria, Renal magnesium wasting, Ventricular tachycardia, ... OMIM:263800
Hyperbilirubinemia, Conjugated, Type Iii
Conjugated hyperbilirubinemia, Jaundice OMIM:237550
Hyperbilirubinemia, Transient Familial Neonatal
Jaundice, Neonatal unconjugated hyperbilirubinemia OMIM:237900
Insulin-Resistance Syndrome Type B
Fasting hyperinsulinemia, Leukopenia, Glucose intolerance, Hypoalbuminemia, Fasting hypoglycemia,... ORPHA:2298
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Abnormality of the liver, Hypertonia, Polycythemia, Hepatomegaly, Abnormal blood inorganic cation... ORPHA:309854
Cholera
Hyponatremia, Tachycardia, Hypoglycemia, Abnormal blood ion concentration, Irritability, Hypovole... ORPHA:173
Atrial Standstill
Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa... ORPHA:1344
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Potocki-Lupski Syndrome
Hyperactivity, Oral-pharyngeal dysphagia, Abnormal repetitive mannerisms, Patent foramen ovale, H... OMIM:610883
Hypercalcemia, Infantile, 1
Polyuria, Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, Medullary nephrocalcinosis OMIM:143880
Spinocerebellar Ataxia 18
Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia OMIM:607458
Spinocerebellar Ataxia Type 14
Somatic sensory dysfunction, Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar a... ORPHA:98763
Sepsis In Premature Infants
Hepatomegaly, Tachycardia, Elevated circulating C-reactive protein concentration, Splenomegaly, L... ORPHA:90051
Hsd10 Mitochondrial Disease
Restlessness, Elevated circulating tiglylglycine concentration, Hypoglycemia, Progressive neurolo... OMIM:300438
Mitochondrial Complex I Deficiency, Nuclear Type 3
Hepatomegaly, Ataxia, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Dyst... OMIM:618224
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hypomagnesemia, Neutropen... ORPHA:37042
Rhizomelic Chondrodysplasia Punctata, Type 1
Alopecia, Flat face, Spasticity OMIM:215100
Thiamine-Responsive Megaloblastic Anemia Syndrome
Diabetes mellitus, Ventricular septal defect, Cardiac arrest, Anorexia, Megaloblastic anemia, Par... ORPHA:49827
Griscelli Syndrome
Hepatomegaly, Abnormal eyebrow morphology, Ataxia, Abnormality of neutrophils, Abnormal eyelash m... ORPHA:381
Cartilage-Hair Hypoplasia
Micromelia, Heart block, Metaphyseal chondrodysplasia, Tibial bowing, Hypocalcemia, Short palm, N... ORPHA:175
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia ORPHA:231393
Crigler-Najjar Syndrome, Type I
Jaundice, Unconjugated hyperbilirubinemia OMIM:218800
Generalized Pustular Psoriasis
Hyponatremia, Elevated circulating C-reactive protein concentration, Congestive heart failure, Le... ORPHA:247353
Hypomagnesemia 3, Renal
Recurrent urinary tract infections, Polyuria, Hypocitraturia, Renal magnesium wasting, Chronic ki... OMIM:248250
Colchicine Poisoning
Hyponatremia, Myocarditis, Congestive heart failure, Leukocytosis, Hypovolemia, Abnormal blood io... ORPHA:31824
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia, Cho... OMIM:182900
Alg1-Cdg
Cardiomyopathy, Hypoalbuminemia, Abnormal heart morphology ORPHA:79327
Hemochromatosis, Type 2A
Hepatomegaly, Splenomegaly, Congestive heart failure, Dilated cardiomyopathy, Increased circulati... OMIM:602390
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Resting tremor, Hyperactivity, Broad-based gait, Lower limb spasticity, Parkinsonism, Anorexia, A... ORPHA:3077
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Neut... OMIM:618849
Corticobasal Syndrome
Speech apraxia, Somatic sensory dysfunction, Dystonia, Parkinsonism, Limb apraxia, Involuntary mo... ORPHA:454887
Dystonia 28, Childhood-Onset
Torticollis, Tremor, Tip-toe gait, Gait disturbance, Myoclonus, Retrocollis, Dystonia, Oromandibu... OMIM:617284
Liver Failure, Infantile, Transient
Hepatomegaly, Microvesicular hepatic steatosis, Jaundice, Irritability, Hypoalbuminemia, Macroves... OMIM:613070
Bile Acid Synthesis Defect, Congenital, 1
Hepatomegaly, Giant cell hepatitis, Conjugated hyperbilirubinemia, Splenomegaly, Intrahepatic cho... OMIM:607765
Spinocerebellar Ataxia With Epilepsy
Progressive neurologic deterioration, Tremor, Dysmetria, Depression, Gait ataxia, Progressive cer... ORPHA:254881
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Limb dystonia, Bilateral coxa valga, Hypertro... OMIM:620270
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Partington Syndrome
Limb dystonia, Lower limb spasticity, Triangular face, Focal dystonia OMIM:309510
Nephrotic Syndrome, Type 11
Arachnodactyly, Ventricular septal defect, Partial duplication of thumb phalanx, Dilated cardiomy... OMIM:616730
Ethylene Glycol Poisoning
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Ataxia, Confusion, Congestive hea... ORPHA:31826
Alpha-Methylacyl-Coa Racemase Deficiency
Ataxia, Tremor, Elevated circulating phytanic acid concentration, Depression, Hemiparesis, Abnorm... OMIM:614307
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Pyruvate Carboxylase Deficiency
Anorexia, Tremor, Abnormal pyramidal sign, Compulsive behaviors, Hyperglycemia, Hypoglutaminemia,... ORPHA:3008
Fibronectin Glomerulopathy
Hypertension, Hypoalbuminemia, Cerebral hemorrhage ORPHA:84090
Peroxisome Biogenesis Disorder 7A (Zellweger)
Hepatomegaly, Jaundice, Flat face OMIM:614872
Mpi-Cdg
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Hypoalbuminemia, Hepatic fibrosis... ORPHA:79319
Nephronophthisis 11
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... OMIM:613550
Alg12-Cdg
Hyponatremia, Epicanthus, Sandal gap, Proximal placement of thumb, Long fingers, Muscular ventric... ORPHA:79324
Mevalonic Aciduria
Splenomegaly, Ataxia, Triangular face ORPHA:29
Amoebiasis Due To Entamoeba Histolytica
Liver abscess, Lung abscess, Abnormal pericardium morphology, Congestive heart failure, Leukocyto... ORPHA:67
Autosomal Dominant Hypocalcemia
Writer's cramp, Congestive heart failure, Depression, Fatigable weakness, Hyperphosphatemia, Hypo... ORPHA:428
Familial Thyroid Dyshormonogenesis
Delayed proximal femoral epiphyseal ossification, Bradycardia, Prolonged neonatal jaundice, Letha... ORPHA:95716
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Elevated circulating creatine kinase concentration, Anorexia, Abnormal left ... ORPHA:99827
Systemic Primary Carnitine Deficiency
Elevated hepatic transaminase, Hepatomegaly, Clumsiness ORPHA:158
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Ventricular septal defect, Spasticity, Bradycardia, Dystonia, Hypertrophic cardiomyopathy OMIM:616277
Epilepsy, Progressive Myoclonic 7
Tremor, Ataxia, Myoclonus OMIM:616187
Teratoma, Pineal
Polydipsia, Polyuria OMIM:273120
Sandhoff Disease
Hepatomegaly, Ataxia, Splenomegaly, Congestive heart failure, Progressive psychomotor deteriorati... ORPHA:796
Renal Tubular Dysgenesis
Anuria, Abnormality of the urinary system, Pulmonary hypoplasia, Hypotension, Renotubular dysgenesis OMIM:267430
Diamond-Blackfan Anemia
Pure red cell aplasia, Reticulocytopenia, Leukopenia, Triphalangeal thumb, Neutropenia, Atrial se... ORPHA:124
Lymphoproliferative Syndrome 1
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein ... OMIM:613011
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Splenomegaly, Anemia, Hepatomegaly ORPHA:46532
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hypertriglyceridemia, Hepatomegaly OMIM:619175
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hepatomegaly, Cor triatriatum, Intermittent thrombocytopenia, Perianal abscess, Erythroid hypopla... OMIM:612541
Hepatic Veno-Occlusive Disease
Hepatomegaly, Jaundice, Ascites, Increased total bilirubin ORPHA:890
Preeclampsia
Elevated circulating creatinine concentration, Elevated diastolic blood pressure, Hypertension, E... ORPHA:275555
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Epicanthus, Hypercalcemia, Tapered finger, Tremor, Unilateral radial aplasia, Partial absence of ... ORPHA:476126
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Ataxia, Hepatic necrosis, Anemia, Leukopenia, Increased mean corpuscular volume,... OMIM:127550
Galloway-Mowat Syndrome 8
Hypoalbuminemia OMIM:618349
Idiopathic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Pulmona... ORPHA:567548
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hypertension, Rhizomelia, Thrombocytopenia OMIM:166990
Graft Versus Host Disease
Tachycardia, Jaundice, Hepatosplenomegaly, Lymphadenopathy, Irritability, Chronic hepatitis, Hemo... ORPHA:39812
Senior-Boichis Syndrome
Polydipsia, Thickening of the tubular basement membrane, Portal hypertension, Aggressive behavior... ORPHA:84081
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Anemia of inadequate produ... ORPHA:75564
Apparent Mineralocorticoid Excess
Renal insufficiency, Abnormal urine sodium concentration, Nephrocalcinosis, Hypertension, Renal s... ORPHA:320
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Hyponatremia, Calcinosis, Splenomegaly, Inability to walk, Hypertension, Hypokalemia, Hypocalcemi... OMIM:617913
Holocarboxylase Synthetase Deficiency
Ataxia, Anorexia, Hyperammonemia, Keratoconjunctivitis, Irritability, Lethargy, Thrombocytopenia ORPHA:79242
Congenital Myopathy 22A, Classic
Waddling gait, Tricuspid regurgitation, Bilateral ptosis, Synophrys, Bradycardia, Congenital fing... OMIM:620351
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Short attention span, Hyperactivity, Hypoglycemia, Insulin resistance, Congenital bilateral ptosi... ORPHA:73272
Achondrogenesis
Flat face, Hydrops fetalis, Polyhydramnios ORPHA:932
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Spastic tetraplegia, Hypertonia, Dystonia, Thrombocytopenia OMIM:619301
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Severe temper tantrums, Ataxia, Hypoglycemia, Aggressive behavior, Tremor, Spastic tetraplegia, D... OMIM:617710
Pearson Marrow-Pancreas Syndrome
Sideroblastic anemia, Pancytopenia, Hepatomegaly, Pancreatic fibrosis, Anorexia, Thrombocytopenia... OMIM:557000
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Bowing of the legs, Femoral bowing, Tibial bowing, Fibular bowing, Hypocalcemia, Difficulty walki... OMIM:600081
Hyperphenylalaninemia, Bh4-Deficient, A
Dystonia, Ataxia, Parkinsonism, Progressive neurologic deterioration, Tremor, Rigidity, Dysphagia... OMIM:261640
Familial Hyperaldosteronism Type Iii
Prolonged QT interval, Epistaxis, Hypercalciuria, Intracranial hemorrhage, Hypertension, Polydipsia ORPHA:251274
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elevated circulating creatine kinase concentration, Cardiomegaly, Macrovesicular hepatic steatosi... OMIM:608836
Hyperphenylalaninemia, Bh4-Deficient, B
Dystonia, Progressive neurologic deterioration, Tremor, Rigidity, Dysphagia, Choreoathetosis, Irr... OMIM:233910
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Familial Hyperaldosteronism Type I
Intracranial hemorrhage, Hypertension, Polydipsia, Epistaxis ORPHA:403
Isolated Thyroid-Stimulating Hormone Deficiency
Delayed proximal femoral epiphyseal ossification, Depression, Clumsiness, Bradycardia, Attention ... ORPHA:90674
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 2
Flat face OMIM:616994
Oculoskeletodental Syndrome
Metaphyseal dysplasia, Epicanthus, Hypercalcemia, Short 5th finger, Hypocalcemia, Hypoplasia of t... ORPHA:557003
Pyridoxal Phosphate-Responsive Seizures
Pyridoxine-responsive sideroblastic anemia, Hypoglycemia, Abnormal circulating glycine concentrat... ORPHA:79096
Congenital Disorder Of Glycosylation, Type Ig
Short humerus, Epicanthus, Short femur, Rhizomelia, Sandal gap, Hypoglycemia, Hypoplasia of the r... OMIM:607143
Sitosterolemia 1
Reticulocytosis, Hyperapobetalipoproteinemia, Thrombocytopenia, Splenomegaly, Giant platelets, El... OMIM:210250
Sinoatrial Node Dysfunction And Deafness
Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia OMIM:614896
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Tremor, Frequent falls, Myoclonus, Dystonia OMIM:619647
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis, Spasticity, Abnormal... ORPHA:208441
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Limb ataxia, Dysdiadochokinesis,... OMIM:617145
Immunodeficiency 15B
Monocytosis, Reduced natural killer cell count OMIM:615592
Hypermethioninemia Due To Adenosine Kinase Deficiency
Elevated circulating creatine kinase concentration, Secundum atrial septal defect, Elevated circu... OMIM:614300
Neurodegeneration With Brain Iron Accumulation 7
Lower limb spasticity, Dystonia, Ataxia, Tremor, Dysmetria, Increased circulating very long-chain... OMIM:617916
Parkinson Disease 2, Autosomal Recessive Juvenile
Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturbance, Dystonia OMIM:600116
Proximal 16P11.2 Microduplication Syndrome
Sparse eyelashes, Sparse eyebrow, Tremor, Flat face, Abnormality of the hairline ORPHA:370079
Congenital Disorder Of Glycosylation, Type Ii
Iron deficiency anemia, Dystonia, Flat face, Hepatomegaly OMIM:607906
Bartter Syndrome, Type 3
Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Polyuria, Renal salt wasting,... OMIM:607364
Mucopolysaccharidosis Type 7
Coarse facial features, Lymphedema, Splenomegaly, Hepatitis, Hydrops fetalis, Ascites, Flat face ORPHA:584
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Abnormal mitral valve morphology, Progressive neurologic deterioration, Tremor, Hypertension, Hyp... ORPHA:1192
Proximal Myopathy With Extrapyramidal Signs
Resting tremor, Ataxia, Involuntary movements, Insulin-resistant diabetes mellitus, Chorea, Cardi... ORPHA:401768
D-Glyceric Aciduria
Hypoglycemia, Tongue thrusting, Nonketotic hyperglycinemia, Spastic tetraplegia, Opisthotonus, Br... OMIM:220120
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, Conjugated hyperbilirubinemia, ... ORPHA:79303
Tangier Disease
Orange discolored tonsils, Hypertriglyceridemia, Chronic noninfectious lymphadenopathy, Hepatospl... ORPHA:31150
Double Outlet Right Ventricle
Tachycardia, Ventricular septal defect, Double outlet right ventricle, Heart murmur, Narrow palpe... ORPHA:3426
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Round face, Flat face OMIM:132450
Partington Syndrome
Lower limb spasticity, Gait disturbance, Limb dystonia, Macroorchidism, Triangular face ORPHA:94083
Ring Chromosome 10 Syndrome
Downslanted palpebral fissures, Sandal gap, Hypocalcemia, Tapered finger ORPHA:1438
Cholesteryl Ester Storage Disease
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Bone-marrow foam cel... OMIM:278000
Combined Oxidative Phosphorylation Deficiency 45
Tremor, Round face, Ataxia OMIM:618951
Nephrotic Syndrome, Type 22
Hypoproteinemia OMIM:619155
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Gait disturbance, Myoclonus, Dyst... ORPHA:314632
Snakebite Envenomation
Hyponatremia, Tachycardia, Epistaxis, Myocardial infarction, Paralysis, Neuromuscular dysphagia, ... ORPHA:449285
Sézary Syndrome
Hepatomegaly, Alopecia, Edema, Tremor, Splenomegaly, Lymphadenopathy, Nail dystrophy, Abnormal fa... ORPHA:3162
Cardiomyopathy, Dilated, 1I
Reduced systolic function, Elevated circulating creatine kinase concentration, Cardiomegaly, Cong... OMIM:604765
Bile Acid Synthesis Defect, Congenital, 2
Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Jaundice, Hyperbilirubinemia, Steatorrhea OMIM:235555
Distal Monosomy 7Q36
Large face, Cryptorchidism, Hypertonia, Flat face ORPHA:1636
Drug-Induced Lupus Erythematosus
Pericarditis, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive... ORPHA:231111
Oslam Syndrome
Clinodactyly of the 5th finger, Radioulnar synostosis, Increased mean corpuscular volume, Abnorma... ORPHA:2760
Blepharocheilodontic Syndrome 2
Distichiasis, Flat face, Facial asymmetry OMIM:617681
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Ogden Syndrome
Bicuspid aortic valve, Maternal diabetes, Cardiomegaly, Abnormal eyelid morphology, Microvesicula... OMIM:300855
Pediatric-Onset Graves Disease
Hepatomegaly, Hyperactivity, Atrial fibrillation, Abnormal eyelid morphology, Tremor, Splenomegal... ORPHA:525731
Nephrogenic Diabetes Insipidus
Renal insufficiency, Hydroureter, Anorexia, Functional abnormality of the bladder, Hypovolemia, E... ORPHA:223
Hypophosphatasia, Infantile
Elevated plasma pyrophosphate, Hypercalcemia, Micromelia, Bowing of the legs, Anorexia, Intracran... OMIM:241500
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Hypocalcemic Vitamin D-Dependent Rickets
Irregular, rachitic-like metaphyses, Subperiosteal bone resorption, Tibial bowing, Femoral bowing... ORPHA:289157
Achondrogenesis Type 1B
Flat face, Hydrops fetalis, Polyhydramnios ORPHA:93298
Preeclampsia/Eclampsia 1
Hypertension, Thrombocytopenia OMIM:189800
Erythroderma, Lethal Congenital
Hypoalbuminemia OMIM:227090
Autosomal Recessive Kenny-Caffey Syndrome
Stenosis of the medullary cavity of the long bones, Small hand, Short foot, Cortical thickening o... ORPHA:93324
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Bicuspid aortic valve, Clonus, Synophrys, Hypertonia, Tics, Compulsive behaviors, Abnormal repeti... OMIM:619475
Multiple Symmetric Lipomatosis
Hepatomegaly, Gait disturbance, Paresthesia ORPHA:2398
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Hypoalbuminemia, Hepatic fibrosis, Cirrhosis, Steatorrhea, Hyperinsulinemic hypogly... OMIM:602579
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con... OMIM:301083
Thiamine-Responsive Megaloblastic Anemia Syndrome
Sideroblastic anemia, Diabetes mellitus, Ataxia, Ventricular septal defect, Situs inversus totali... OMIM:249270
Hemangioma-Thrombocytopenia Syndrome
Hyperkalemia, Ventricular arrhythmia, Microangiopathic hemolytic anemia, Thrombocytopenia OMIM:141000
Congenital Disorder Of Glycosylation, Type Ie
Hepatomegaly, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Splenomegaly, S... OMIM:608799
Classic Galactosemia
Speech apraxia, Hepatomegaly, Incoordination, Postural tremor, Ataxia, Hypoglycemia, Abnormal ery... ORPHA:79239
Mevalonic Aciduria
Normocytic hypoplastic anemia, Ataxia, Elevated circulating creatine kinase concentration, Elevat... OMIM:610377
Combined Oxidative Phosphorylation Deficiency 37
Hypoglycemia, Progressive neurologic deterioration, Spasticity, Bile duct proliferation, Hypoalbu... OMIM:618329
Parkinson Disease 14, Autosomal Recessive
Elevated circulating creatine kinase concentration, Tremor, Hand tremor, Loss of ambulation, Eyel... OMIM:612953
Achondrogenesis Type 1A
Flat face, Hydrops fetalis, Polyhydramnios ORPHA:93299
Intellectual Developmental Disorder, X-Linked 30
Flat face, Clumsiness OMIM:300558
Autosomal Recessive Malignant Osteopetrosis
Hepatomegaly, Bowing of the long bones, Abnormal pulmonary valve morphology, Tremor, Splenomegaly... ORPHA:667
Bilateral Striopallidodentate Calcinosis
Hepatomegaly, Abnormality of the liver, Thrombocytopenia ORPHA:1980
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Portal hypertension, Nodular regenerative hyperplasia of liver, Increased circulating ferritin co... ORPHA:210136
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Methylmalonic acidemia, Hepatomegaly, Hypoglycemia, Cerebellar hemorrhage, Hyperammonemia, Leukop... OMIM:251000
Neuraminidase Deficiency
Hepatomegaly, Coarse facial features, Bone-marrow foam cells, Cardiomegaly, Facial edema, Splenom... OMIM:256550
Paroxysmal Nocturnal Hemoglobinuria
Myocardial infarction, Pulmonary embolism, Leukopenia, Erythroid hyperplasia, Lethargy, Hemolytic... ORPHA:447
Pseudohypoparathyroidism, Type Ic
Short metacarpal, Short metatarsal, Hyperphosphatemia, Hypocalcemia, Cognitive impairment, Hypoca... OMIM:612462
Tularemia
Brain abscess, Tachycardia, Confusion, Abnormal nasopharyngeal adenoid morphology, Leukocytosis, ... ORPHA:3392
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Aplastic anemia, Splenomegaly, Increased circul... OMIM:300635
Wolfram Syndrome 1
Sideroblastic anemia, Diabetes mellitus, Ataxia, Megaloblastic anemia, Tremor, Limited mobility o... OMIM:222300
Bardet-Biedl Syndrome 17
Polydipsia, Polyuria, Stage 5 chronic kidney disease, Renal cyst, Micropenis OMIM:615994
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Ascites, Polycystic liver disease, Increased total bilirubin OMIM:174050
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Neonatal Hemochromatosis
Hypoglycemia, Increased circulating ferritin concentration, Congenital hepatic fibrosis, Increase... ORPHA:446
Spinocerebellar Ataxia, Autosomal Recessive 2
Incoordination, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Limb ataxia, Spasticity OMIM:213200
Primary Unilateral Adrenal Hyperplasia
Epistaxis, Increased urinary potassium, Hypertension, Palpitations, Polydipsia ORPHA:231580
Coproporphyria, Hereditary
Hepatomegaly, Tachycardia, Confusion, Splenomegaly, Jaundice, Depression, Hypertension, Respirato... OMIM:121300
Caroli Disease
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Anorexia, Conj... ORPHA:53035
Glycogen Storage Disease Vi
Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Hyperlipidemia, Hypercholesterolemia, Increased... OMIM:232700
Autosomal Spastic Paraplegia Type 58
Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Unst... ORPHA:397946
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Acute lymphoblastic leukemia, Monocytosis,... ORPHA:486
Fructose-1,6-Bisphosphatase Deficiency
Hepatomegaly, Tachycardia, Hypoglycemia, Irritability, Hyperuricemia, Fasting hypoglycemia, Hyper... ORPHA:348
Diamond-Blackfan Anemia 1
Macrocytic anemia, Epicanthus, Ventricular septal defect, Tricuspid stenosis, Congenital hypoplas... OMIM:105650
Congenital Toxoplasmosis
Hepatomegaly, Cardiomegaly, Jaundice, Lymphadenopathy, Anemia, Cognitive impairment, Ascites, Thr... ORPHA:858
Adult Idiopathic Neutropenia
Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia ORPHA:2688
Congenital Disorder Of Glycosylation, Type Iij
Elevated hepatic transaminase, Hepatomegaly, Ataxia, Thick hair, Splenomegaly, Cirrhosis, Abnorma... OMIM:613489
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Methylmalonic acidemia, Hypomethioninemia, Hyperhomocystinemia, Normochromic anemia, Lethargy, El... OMIM:614857
Paternal Uniparental Disomy Of Chromosome 1
Hypercalcemia, Progressive psychomotor deterioration, Hypertension, Myoclonus, Increased blood ur... ORPHA:251004
Intellectual Developmental Disorder, Autosomal Dominant 59
Flat face, Highly arched eyebrow OMIM:618522
Stiff-Person Syndrome
Exaggerated startle response, Tachycardia, Diabetes mellitus, Rigidity, Opisthotonus, Depression,... OMIM:184850
Diamond-Blackfan Anemia 7
Macrocytic anemia, Ventricular septal defect, Secundum atrial septal defect, Short thumb, Increas... OMIM:612562
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hypoglycemia, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Jaundice, Hyperammonemia, ... OMIM:617093
Combined Oxidative Phosphorylation Defect Type 39
Lower limb spasticity, Involuntary movements, Babinski sign, Leg dystonia, Ankle clonus, Tip-toe ... ORPHA:565624
Pseudopseudohypoparathyroidism
Short distal phalanx of the 3rd finger, Short metatarsal, Hyperphosphatemia, Short 5th finger, Hy... ORPHA:79445
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Jaundice, Hepatitis, Hematochezia, Acholic ... OMIM:613812
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Impaired vibratory sensation, Hepatomegaly, Clonus, Poor coordination, Abnormal pyramidal sign, S... OMIM:238970
Kleine-Levin Syndrome
Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Agitatio... ORPHA:33543
Primary Sclerosing Cholangitis
Abnormal eosinophil morphology, Spider hemangioma, Hypoalbuminemia, Hepatic fibrosis, Neoplasm of... ORPHA:171
Acyl-Coa Dehydrogenase 9 Deficiency
Nonketotic hypoglycemia, Elevated creatine kinase after exercise, Sudden cardiac death, Elevated ... ORPHA:99901
Lathosterolosis
Epicanthus, Toe syndactyly, Bilobate gallbladder, Increased mean platelet volume, Acanthocytosis,... OMIM:607330
Gracile Bone Dysplasia
Asplenia, Flared metaphysis, Hypocalcemia, Hypoplastic spleen, Ascites, Brachydactyly OMIM:602361
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia
Flat face, Limb dystonia OMIM:620269
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, Hy... OMIM:242150
Hemochromatosis, Type 3
Increased circulating ferritin concentration, Elevated transferrin saturation, Cardiomyopathy, In... OMIM:604250
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Intrahepatic cholestasis, Opisthotonus, Irritability, Increased serum bile acid concentration, Hy... OMIM:619685
Spinocerebellar Ataxia 48
Ataxia, Parkinsonism, Tremor, Chorea, Babinski sign, Dysmetria, Gait ataxia, Dystonia OMIM:618093
Cystinosis
Renal insufficiency, Proteinuria, Portal hypertension, Renal tubular dysfunction, Aminoaciduria, ... ORPHA:213
Progressive Supranuclear Palsy-Corticobasal Syndrome
Somatic sensory dysfunction, Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyra... ORPHA:240103
Mixed-Type Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Tachycardia, Increased total bilirubin ORPHA:90036
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Anuria, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic kidney disease, Hematuria, Hypert... OMIM:612925
Chylomicron Retention Disease
Hypertriglyceridemia, Acanthocytosis, Steatorrhea, Hypocholesterolemia, Increased hepatocellular ... ORPHA:71
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Cryptorchidism, Flat face OMIM:616910
Multiple Myeloma
Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Lymphadenopathy, Hype... ORPHA:29073
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Reticulocytosis, Myocardial infarction, Leukocytosis, Schistocytosis, Elevated circ... ORPHA:90038
Juvenile Polyposis Of Infancy
Refractory anemia, Gastrointestinal hemorrhage, Abnormal heart morphology, Hematochezia, Melena, ... ORPHA:79076
Cerebral Creatine Deficiency Syndrome 2
Lower limb spasticity, Ataxia, Aggressive behavior, Tremor, Rigidity, Paraparesis, Hypertonia, My... OMIM:612736
Glutamine Deficiency, Congenital
Hypoglutaminemia, Micromelia, Hyperammonemia, Bradycardia, Camptodactyly OMIM:610015
Atelis Syndrome 1
Ventricular septal defect, Anemia, Leukopenia, Hypertonia, Attention deficit hyperactivity disord... OMIM:620184
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Hyponatremia, Macrocytic anemia, Orthostatic hypotension, Decreased circulatin... ORPHA:199299
Congenital Lethal Erythroderma
Hypoalbuminemia ORPHA:1954
Craniofacial-Deafness-Hand Syndrome
Narrow face, Flat face ORPHA:1529
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Choreoathetosis, Transient hyperphenylalanine... OMIM:612716
Purine Nucleoside Phosphorylase Deficiency
Cerebral vasculitis, Autoimmune hemolytic anemia, Hypouricemia, Increased circulating guanosine c... OMIM:613179
Dihydrolipoamide Dehydrogenase Deficiency
Increased serum pyruvate, Hepatomegaly, Ataxia, Hypoglycemia, Dystonia, Lethargy, Hypertrophic ca... OMIM:246900
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis, Hyperlipoproteinemia OMIM:118830
Pseudo-Torch Syndrome 3
Cerebral hemorrhage, Cardiomegaly, Increased circulating ferritin concentration, Leukocytosis, Ly... OMIM:618886
Aicardi-Goutieres Syndrome 4
Hepatomegaly, Pancytopenia, Splenomegaly, Hepatosplenomegaly, Dystonia, Spasticity, Thrombocytopenia OMIM:610333
Hypoparathyroidism, Familial Isolated, 2
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:618883
Hereditary Cryohydrocytosis With Reduced Stomatin
Spontaneous hemolytic crises, Ataxia, Conjugated hyperbilirubinemia, Jaundice, Spastic paraplegia... ORPHA:168577
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Proteinuria, Polyuria, Renal salt wasting, Chronic kidney disease, Pulmonary arterial hypertensio... OMIM:613845
Syngap1-Related Developmental And Epileptic Encephalopathy
Ataxia, Tremor, Poor coordination, Gait disturbance, Abnormality of pain sensation, Abnormal faci... ORPHA:544254
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Epicanthus, Incoordination, Dextrocardia, Meg... OMIM:277380
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Tachycardia, Progressive neurologic deterioration, Reactive hypoglycemia, Tremor, Hyperinsulinemi... ORPHA:276608
Autoimmune Hepatitis
Gastrointestinal hemorrhage, Viral hepatitis, Diffuse hepatic steatosis, Spider hemangioma, Splen... ORPHA:2137
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... ORPHA:444463
Dystonia 12
Torticollis, Parkinsonism, Tremor, Unsteady gait, Dysphagia, Depression, Bradykinesia, Dystonia, ... OMIM:128235
Optic Atrophy 11
Hyperactivity, Ataxia, Splenomegaly, Gait apraxia, Dysmetria, Athetosis, Stereotypical body rocki... OMIM:617302
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Epistaxis, Nephrolithiasis, Intracranial hemorrhage, Hypertension, Second degree atrioventricular... ORPHA:369929
Neuroferritinopathy
Resting tremor, Writer's cramp, Parkinsonism, Involuntary movements, Palatal tremor, Chorea, Babi... ORPHA:157846
Spastic Paraplegia 6, Autosomal Dominant
Lower limb spasticity, Clonus, Tremor, Babinski sign, Spastic paraplegia, Impaired vibration sens... OMIM:600363
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... OMIM:133180
Grant Syndrome
Large face, Flat face, Facial asymmetry ORPHA:2097
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Ataxia, Abnormality of neutrophils, Splenomegaly, U... ORPHA:2585
Citrullinemia, Type Ii, Neonatal-Onset
Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper... OMIM:605814
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Polydipsia, Megacystis, Polyuria OMIM:125800
Cholestasis, Progressive Familial Intrahepatic, 1
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Epistaxis, Conjugated hyperbilirub... OMIM:211600
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia OMIM:610297
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Polydipsia, Megacystis, Polyuria OMIM:304800
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Hepatomegaly, Tachycardia, Progressive neurologic deterioration, Tremor, Abnormal circulating fat... ORPHA:263455
Caroli Syndrome
Liver abscess, Cholangitis, Conjugated hyperbilirubinemia, Abnormal intrahepatic bile duct morpho... ORPHA:480520
Hjv Or Hamp-Related Hemochromatosis
Diabetes mellitus, Increased circulating ferritin concentration, Elevated transferrin saturation,... ORPHA:79230
Hypocalcemic Vitamin D-Resistant Rickets
Genu varum, Genu valgum, Gait disturbance, Hypocalcemia, Hypophosphatemia, Abnormal metaphysis mo... ORPHA:93160
Thrombotic Thrombocytopenic Purpura, Hereditary
Reticulocytosis, Transient ischemic attack, Confusion, Myocardial infarction, Tremor, Jaundice, S... OMIM:274150
Congenital Heart Block
First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive heart failur... ORPHA:60041
Non-Functioning Paraganglioma
Hypercalcemia, Cerebral hemorrhage, Tremor, Congestive heart failure, Vocal cord paralysis, Palpi... ORPHA:94080
Tako-Tsubo Cardiomyopathy
Prolonged QTc interval, Mildly elevated creatine kinase, Mildly reduced left ventricular ejection... ORPHA:66529
Congenital Enterocyte Heparan Sulfate Deficiency
Hematochezia, Abnormal circulating polysaccharide concentration, Hypoalbuminemia, Abnormal circul... ORPHA:103910
Intrahepatic Cholestasis Of Pregnancy
Tremor, Abnormality of the pancreas, Jaundice, Depression, Cholecystitis, Increased serum bile ac... ORPHA:69665
Diamond-Blackfan Anemia 3
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia OMIM:610629
Fanconi Renotubular Syndrome 5
Proteinuria, Stage 5 chronic kidney disease, Hypertension, Aminoaciduria, Pulmonary fibrosis, Gly... OMIM:618913
Aminoacylase 1 Deficiency
Hyperactivity, Bradycardia OMIM:609924
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Tremor, Rigidity, Neuromuscular dysphagia, Depression, Bradykinesia, Falls, Dystonia, Mental dete... ORPHA:240085
Car T Cell Therapy-Associated Cytokine Release Syndrome
Tachycardia, Confusion, Heart block, Elevated circulating creatinine concentration, Capillary lea... ORPHA:542323
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... OMIM:615285
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio... OMIM:617280
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypertyrosinemia, Hypoglycemia, Conjugated hyperbilirubinemia, Congestive heart failure, Microves... OMIM:617156
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia OMIM:601198
Adult-Onset Distal Myopathy Due To Vcp Mutation
Parkinsonism, Progressive neurologic deterioration, Tremor, Depression, Cardiomyopathy, Dementia,... ORPHA:329478
Orofaciodigital Syndrome Xv
Flat face OMIM:617127
Genetic Steroid-Resistant Nephrotic Syndrome
Irritability, Peritonitis, Hypoalbuminemia ORPHA:656
Myopathy, Myofibrillar, 1
Dilated cardiomyopathy, Third degree atrioventricular block, Bradycardia, Restrictive cardiomyopa... OMIM:601419
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... ORPHA:846
Polycythemia Vera
Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobi... OMIM:263300
Neurodegeneration With Brain Iron Accumulation 4
Generalized dystonia, Ataxia, Elevated circulating creatine kinase concentration, Impulsivity, Pa... OMIM:614298
Beemer Lethal Malformation Syndrome
Thrombocytopenia OMIM:209970
Cardiomyopathy, Dilated, 1D
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Incr... OMIM:601494
Neuroectodermal Melanolysosomal Disease
Hypopigmentation of hair, Ataxia, Tremor, Rigidity, Premature graying of hair, Hypertonia, Spasti... ORPHA:33445
Central Diabetes Insipidus
Polydipsia, Nocturia, Anorexia ORPHA:178029
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Hypoglycemia, Elevated circulating creatine kinase concentration, Clonus, Intraventricular hemorr... OMIM:619055
Symptomatic Form Of Hfe-Related Hemochromatosis
Abnormal metacarpophalangeal joint morphology, Hepatomegaly, Cholangiocarcinoma, Diabetes mellitu... ORPHA:465508
Pseudohypoparathyroidism, Type Ib
Short metacarpal, Hyperphosphatemia, Hypocalcemia, Brachydactyly OMIM:603233
Arima Syndrome
Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Renal corticomedu... OMIM:243910
Spinocerebellar Ataxia 7
Tremor, Chorea, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Abnormality of extrapyra... OMIM:164500
Castleman Disease
Generalized lymphadenopathy, Abdominal mass, Elevated circulating C-reactive protein concentratio... ORPHA:160
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Broad eyebrow, Highly arched eyebrow, Inability to walk, Self-injurious behavior, High noncerulop... ORPHA:457351
Pancreatic insufficiency, combined exocrine
Congestive heart failure, Hypoproteinemia, Exocrine pancreatic insufficiency OMIM:260450
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Osteopetrosis With Renal Tubular Acidosis
Hepatomegaly, Pancytopenia, Elevated circulating creatine kinase concentration, Enlarged tonsils,... ORPHA:2785
Systemic Capillary Leak Syndrome
Renal insufficiency, Pericarditis, Pulmonary edema, Myocarditis, Oliguria, Pleural effusion, Hypo... ORPHA:188
Sea-Blue Histiocyte Disease
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevated circulating... OMIM:269600
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Tremor, Rigidity, Inability to walk, Dysmetria, Gait ataxia, Gait disturbance OMIM:618090
Hemiparkinsonism-Hemiatrophy Syndrome
Parkinsonism, Tremor, Hemiparesis, Bradykinesia, Hemifacial atrophy, Difficulty walking, Dystonia ORPHA:306669
Oculopharyngodistal Myopathy 3
Ataxia, Elevated circulating creatine kinase concentration, Tremor, Dysphagia, Ptosis OMIM:619473
Wilson Disease
Hepatomegaly, Aggressive behavior, Splenomegaly, Hypersexuality, Jaundice, Hepatitis, Depression,... ORPHA:905
Choreoacanthocytosis
Elevated circulating creatine kinase concentration, Chorea, Hypertonia, Compulsive behaviors, Lim... ORPHA:2388
Parkinson-Dementia Syndrome
Tremor, Abnormal pyramidal sign, Rigidity, Parkinsonism OMIM:260540
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Short palm, Hyperactivity, Pericardial lymphangiectasia, Epicanthus, Ventricular septal defect, T... OMIM:235510
Neonatal Lupus Erythematosus
Prolonged QT interval, Hemolytic anemia, Pancytopenia, Hepatomegaly, Aplastic anemia, Heart block... ORPHA:398124
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Gastrointestinal hemorrhage, Cerebral hemorrhage, Diffuse alveolar hemorrhage, Hematemesis, Osteo... ORPHA:464321
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Giant cell hepatitis, Ventricular septal defect, Conjugated hyperbilirubinemia, Hepatic melanin-l... OMIM:208085
Uruguay Faciocardiomusculoskeletal Syndrome
Hallux valgus, Waddling gait, Dislocation of toes, Ventricular hypertrophy, Elevated circulating ... OMIM:300280
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Hypertension, Acute kidney injury OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Hypertension, Acute kidney injury OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Hypertension, Acute kidney injury OMIM:612926
Bone Dysplasia, Lethal Holmgren Type
Hepatomegaly, Flat face, Anemia ORPHA:1842
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Hypertension, Acute kidney injury OMIM:612924
Primary Dystonia, Dyt2 Type
Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm... ORPHA:99657
Attrv122I Amyloidosis
Abnormal EKG, Increased circulating NT-proBNP concentration, Angina pectoris, Abnormal atrioventr... ORPHA:85451
Juvenile Polyposis Syndrome
Clubbing, Hematochezia, Hypokalemia, Hypoalbuminemia, Anemia OMIM:174900
Peroxisome Biogenesis Disorder 5A (Zellweger)
Conjugated hyperbilirubinemia, Atrial septal defect, Lethargy, Intrahepatic biliary dysgenesis, H... OMIM:614866
Chronic Atrial And Intestinal Dysrhythmia
Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Bicuspid aortic valve, Left atria... OMIM:616201
Mitochondrial Complex I Deficiency, Nuclear Type 33
Hypoglycemia, Progressive neurologic deterioration, Neutropenia, Hyperammonemia, Irritability, Dy... OMIM:618253
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Polyhydramnios, Cardiomegaly, Hydrops fetalis, Pleural effusion, Ascites, Flat face OMIM:616897
Atypical Juvenile Parkinsonism
Resting tremor, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal pyramidal ... ORPHA:391411
Congenital Disorder Of Glycosylation, Type Im
Sparse eyelashes, Increased circulating free fatty acid level, Sparse eyebrow, Dilated cardiomyop... OMIM:610768
Parkinsonism-Dystonia 2, Infantile-Onset
Incoordination, Ataxia, Oculogyric crisis, Parkinsonism, Tremor, Dysdiadochokinesis, Shuffling ga... OMIM:618049
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Cerebral vasculitis, Hyponatremia, Confusion, Paralysis, Leukocytosis, Depression, Thrombocytopenia ORPHA:83601
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Intrahepatic cholestasis, Intermittent... OMIM:601847
22Q11.2 Deletion Syndrome
Abnormal eyelid morphology, Hypoplasia of the thymus, Hypocalcemia, Atrial septal defect, Arachno... ORPHA:567
Eosinophilia, Familial
Eosinophilia, Thrombocytopenia, Leukocytosis, Myocardial eosinophilic infiltration, Anemia OMIM:131400
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Blepharocheilodontic Syndrome 1
Sparse hair, High anterior hairline, Distichiasis, Flat face OMIM:119580
Camptodactyly Syndrome, Guadalajara Type 1
Narrow face, Highly arched eyebrow, Synophrys, Flat face, Long face ORPHA:1327
Combined Oxidative Phosphorylation Deficiency 52
Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperamylasemia, Anorexia, Hype... OMIM:619386
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hepatomegaly, Sparse eyebrow, Spasticity, Hypocholesterolemia, Hypertrophic cardiomyopathy OMIM:618810
Gilbert Syndrome
Jaundice, Unconjugated hyperbilirubinemia OMIM:143500
Majeed Syndrome
Anemia of inadequate production, Microcytic anemia, Hepatosplenomegaly, Decreased mean corpuscula... OMIM:609628
Hurler-Scheie Syndrome
Hepatomegaly, Coarse facial features, Abnormality of the tonsils, Splenomegaly, Abnormal pyramida... ORPHA:93476
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic steatosis OMIM:614480
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Hypoglycemic seizures, Attention deficit hyperact... OMIM:620211
Rhizomelic Chondrodysplasia Punctata
Alopecia, Flat face, Sparse body hair ORPHA:177
Cystic Echinococcosis
Abnormal peritoneum morphology, Hepatomegaly, Eosinophilia, Hepatic cysts, Abscess, Abnormality o... ORPHA:400
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery... OMIM:603902
Pseudo-Torch Syndrome 2
Hepatomegaly, Cerebral hemorrhage, Secundum atrial septal defect, Bradycardia, Lethargy, Ascites,... OMIM:617397
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Ataxia, Elevated circulating creatine kinase concentration, Hypoglycemia, Cardiomeg... ORPHA:42
Coenzyme Q10 Deficiency, Primary, 9
Lower limb spasticity, Ataxia, Tremor, Dysmetria, Impaired tandem gait, Myoclonus OMIM:619028
Hemochromatosis, Type 1
Hepatomegaly, Diabetes mellitus, Cardiomegaly, Splenomegaly, Congestive heart failure, Increased ... OMIM:235200
X-Linked Charcot-Marie-Tooth Disease Type 1
Tremor, Ataxia, Gait disturbance, Impaired pain sensation ORPHA:101075
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Hypocalcemia, Abnormal repetitive mannerisms, Nail-biting, Hair-pulling, Long palpebral fissure, ... OMIM:620330
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly... OMIM:615559
Acitretin/Etretinate Embryopathy
Aplasia/hypoplasia involving bones of the lower limbs, Epicanthus, Aplasia/hypoplasia involving b... ORPHA:40366
Hyperparathyroidism, Neonatal Severe
Calcinosis, Hepatomegaly, Hypercalcemia, Splenomegaly, Anemia, Hypophosphatemia, Polydipsia, Meta... OMIM:239200
Tyrosinemia Type 1
Splenomegaly, Hepatomegaly, Acute hepatic failure, Hepatocellular carcinoma ORPHA:882
Secondary Intestinal Lymphangiectasia
Right ventricular failure, Decreased prealbumin level, Reduced circulating transferrin concentrat... ORPHA:90363
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Elevated circulating creatine kinase concentration, Sinus bradycardia, Second degree atrioventric... OMIM:616812
Urocanic Aciduria
Broad-based gait, Ataxia, Gait ataxia, Truncal ataxia, Action tremor ORPHA:210128
Coenzyme Q10 Deficiency, Primary, 1
Right hemiplegia, Pancytopenia, Ataxia, Elevated circulating creatine kinase concentration, Tremo... OMIM:607426
Abruzzo-Erickson Syndrome
Cryptorchidism, Flat face ORPHA:921
Congenital Bile Acid Synthesis Defect Type 4
Giant cell hepatitis, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Depress... ORPHA:79095
Infant Acute Respiratory Distress Syndrome
Tachycardia, Pneumonia, Cardiac arrest, Respiratory tract infection, Atelectasis, Bradycardia, Hy... ORPHA:70587
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased HDL cholesterol concentration, Blepharitis, Decreased LDL cholesterol concentration, Hy... OMIM:616834
Familial Isolated Hypoparathyroidism
Arrhythmia, Hypocalcemia ORPHA:2238
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Portal hypertension, Conjugat... OMIM:619662
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia, Coxa valga OMIM:191420
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Oncogenic Osteomalacia
Abnormality of the tarsal bones, Abnormal femur morphology, Abnormal fibula morphology, Tibial bo... ORPHA:352540
Galloway-Mowat Syndrome 1
Epicanthus, Dystonia, Ataxia, Spastic tetraplegia, Hypoalbuminemia, Talipes equinovarus, Camptoda... OMIM:251300
Isotretinoin-Like Syndrome
Bicuspid aortic valve, Abnormal cardiac ventricle morphology, Conotruncal defect, Upslanted palpe... ORPHA:2306
3-Methylglutaconic Aciduria Type 4
Cardiomyopathy, Spasticity, Hypoglycemia, Thrombocytopenia ORPHA:67048
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia OMIM:617173
Spinocerebellar Ataxia, Autosomal Recessive 30
Increased serum pyruvate, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Uns... OMIM:619405
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Pericardial effusion, Hematochezia, Hypoalbuminemia, Hypocalc... OMIM:618183
Niemann-Pick Disease, Type A
Hepatomegaly, Bone-marrow foam cells, Microcytic anemia, Rigidity, Splenomegaly, Inability to wal... OMIM:257200
Biliary Atresia, Extrahepatic
Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atresia, Jaundice, Acholic stools, P... OMIM:210500
Tangier Disease
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:205400
Leptospirosis
Hepatomegaly, Pericarditis, First degree atrioventricular block, Anorexia, Conjunctival hyperemia... ORPHA:509
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Hepatomegaly, Lymphocytosis OMIM:606445
Fetal Parvovirus Syndrome
Thrombocytopenia, Hypertrophic cardiomyopathy, Ascites, Anemia ORPHA:295
Lysinuric Protein Intolerance
Decreased HDL cholesterol concentration, Leukopenia, Lethargy, Hepatomegaly, Abnormal circulating... ORPHA:470
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Reticulocytosis, Hyperlipidemia, Schistocytosis, Elevated circulating creatinine concentration, H... OMIM:235400
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Refractory Anemia
Normocytic anemia, Macrocytic anemia, Abnormal cardiac ventricular function, Anemia of inadequate... ORPHA:98826
Whipple Disease
Gastrointestinal hemorrhage, Hyponatremia, Pericarditis, Hepatomegaly, Ataxia, Myocardial infarct... ORPHA:3452
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hypercalcemia, Anemia ORPHA:2668
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Short attention span, Diabetes mellitus, Decreased serum iron, Blepharophimosis, Repetitive compu... ORPHA:391372
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Generalized lymphadenopathy, Hypertriglyceridemia, Splenomegaly, Absent circulating... OMIM:620282
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Splenomegaly, Hepatomegaly, Hydrops fetalis, Polyhydramnios ORPHA:2204
Infection-Related Hemolytic Uremic Syndrome
Hyponatremia, Hemolytic anemia, Hypertensive crisis, Diabetes mellitus, Brain abscess, Myocarditi... ORPHA:544482
Dahlberg-Borer-Newcomer Syndrome
Telecanthus, Mitral valve prolapse, Hypocalcemia, Short distal phalanx of finger, Brachydactyly ORPHA:1563
Diffuse Cutaneous Systemic Sclerosis
Renal insufficiency, Telangiectasia of the skin, Congestive heart failure, Oliguria, Pulmonary fi... ORPHA:220393
Blepharophimosis-Impaired Intellectual Development Syndrome
Sparse scalp hair, Sparse eyelashes, Highly arched eyebrow, Sparse eyebrow, Cryptorchidism, Synop... OMIM:619293
Thanatophoric Dysplasia
Increased nuchal translucency, Flat face, Polyhydramnios ORPHA:2655
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Chorea, Depression, Clumsiness, Irritabili... ORPHA:66624
Acute Adrenal Insufficiency
Normocytic anemia, Hyponatremia, Orthostatic hypotension, Decreased circulating cortisol level, S... ORPHA:95409
Gaucher Disease Type 2
Splenomegaly, Hepatomegaly, Spasticity, Dystonia ORPHA:77260
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Morning myoclonic jerks, Bradycardia ORPHA:2898
Infantile Neuronal Ceroid Lipofuscinosis
Dystonia, Ataxia, Tremor, Chorea, Unsteady gait, Dysmetria, Clumsiness, Poor fine motor coordinat... ORPHA:79263
Congenital Rubella Syndrome
Hepatomegaly, Atrial septal defect, Ventricular septal defect, Splenomegaly, Jaundice, Spastic di... ORPHA:290
Epilepsy, Familial Adult Myoclonic, 3
Tremor, Myoclonus, Difficulty walking OMIM:613608
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... OMIM:174000
Ataxia-Telangiectasia
Diabetes mellitus, Telangiectasia of the skin, Ataxia, Tremor, Gait disturbance, Type II diabetes... ORPHA:100
Amed Syndrome, Digenic
Acute myeloid leukemia, Telecanthus, Anemia, Leukopenia, Bone marrow hypocellularity, Attention d... OMIM:619151
Rajab Interstitial Lung Disease With Brain Calcifications 1
Pancytopenia, Hypoglycemia, Portal hypertension, Cholestasis, Hypoalbuminemia, Hypocalcemia, Unco... OMIM:613658
Systemic Lupus Erythematosus 17
Autoimmune thrombocytopenia, Raynaud phenomenon, Thrombocytopenia, Chorea, Leukopenia, Mitral reg... OMIM:301080
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Tremor, Chorea, Gait ataxia, Myoclonus, Truncal ataxia OMIM:618587
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Head titubation, Increased circulating ferritin concentration, Vestibular areflexia, Spastic tetr... ORPHA:3240
Gray Platelet Syndrome
Splenomegaly, Abnormality of thrombocytes, Epistaxis, Thrombocytopenia ORPHA:721
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Methylmalonic Aciduria, Cbla Type
Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Tremor, Hyperammonemia, Anemia, Hyperglycinem... OMIM:251100
Congenital Disorder Of Glycosylation, Type Iil
Hepatomegaly, Pancytopenia, Epicanthus, Ventricular septal defect, Elevated circulating creatine ... OMIM:614576
Thanatophoric Dysplasia Type 2
Increased nuchal translucency, Flat face, Polyhydramnios ORPHA:93274
Autosomal Recessive Stickler Syndrome
Flat face ORPHA:250984
Congenital Bile Acid Synthesis Defect Type 3
Jaundice, Cholestasis, Hepatosplenomegaly, Bile duct proliferation, Hyperbilirubinemia, Cirrhosis ORPHA:79302
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, Elevated circulating C-reactive protein concentration, Lymphadenopathy, ... OMIM:618048
Stickler Syndrome, Type Iv
Flat face OMIM:614134
Dubowitz Syndrome
Syndactyly, Hyperactivity, Epicanthus, Aplastic anemia, Telecanthus, Short attention span, Blepha... OMIM:223370
Stormorken Syndrome
Howell-Jolly bodies, Epistaxis, Subarachnoid hemorrhage, Elevated circulating creatine kinase con... OMIM:185070
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Smith-Lemli-Opitz Syndrome
Micromelia, Proximal placement of thumb, 2-3 toe cutaneous syndactyly, Hypertonia, Hypoalbuminemi... OMIM:270400
Joubert Syndrome 27
Oculomotor apraxia, Ataxia, Triangular face, Gait ataxia OMIM:617120
Hsd10 Disease, Infantile Type
Restlessness, Hypoglycemia, Spastic tetraparesis, Cardiomegaly, Poor coordination, Spastic dipleg... ORPHA:391428
Helix Syndrome
Renal insufficiency, Polyuria, Nephrolithiasis, Hypocalciuria, Polydipsia OMIM:617671
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Cirrhotic Cardiomyopathy
Increased circulating NT-proBNP concentration, Cardiomegaly, Global systolic dysfunction, Hepatom... ORPHA:57777
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Flat face, Long face OMIM:613604
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatomegaly, Hypoglycemia, Hyperlipidemia, Irritability, Portal fibrosis, Hepatic fibrosis, Cirr... ORPHA:369
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal salt wasting, I... OMIM:602522
Kyphomelic Dysplasia
Flat face ORPHA:1801
Glycogen Storage Disease Ixa1
Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Hyperuricemia, Hypercholesterolemia OMIM:306000
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Elevated circulating creatine kinase concentration, Confusion, Cardiomegaly, Conges... OMIM:212140
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia OMIM:619099
Tick-Borne Encephalitis
Speech apraxia, Incoordination, Elevated circulating C-reactive protein concentration, Anorexia, ... ORPHA:297
Spinocerebellar Ataxia, Autosomal Recessive 13
Ataxia, Tremor, Inability to walk, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Dysdiadochoki... OMIM:614831
Chromosome 5Q12 Deletion Syndrome
Increased nuchal translucency, Flat face, Coarse facial features OMIM:615668
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Tremor, Dysmetria, Gait ataxia, Compulsive behaviors, Ataxia, Depression, Limb fasciculations, Co... OMIM:615157
Wiedemann-Steiner Syndrome
Elbow hypertrichosis, Brow ptosis, Broad lateral eyebrow, Broad-based gait, Thick hair, Highly ar... OMIM:605130
Fanconi Anemia, Complementation Group G
Abnormal thumb morphology, Anemia, Neutropenia, Leukemia, Thrombocytopenia OMIM:614082
Spinocerebellar Ataxia Type 27
Akinesia, Tremor, Hand tremor, Limb ataxia, Gait ataxia, Gait disturbance, Difficulty walking, Tr... ORPHA:98764
X-Linked Charcot-Marie-Tooth Disease Type 4
Tremor, Ataxia, Gait disturbance, Impaired pain sensation ORPHA:101078
Atypical Rett Syndrome
Restrictive behavior, Involuntary movements, Tremor, Inability to walk, Tongue thrusting, Small h... ORPHA:3095
Acquired Aneurysmal Subarachnoid Hemorrhage
Myocardial infarction, Cerebral hemorrhage, Progressive neurologic deterioration, Congestive hear... ORPHA:90065
Pyruvate Dehydrogenase E3 Deficiency
Hepatomegaly, Abnormal cardiac ventricular function, Elevated circulating branched chain amino ac... ORPHA:2394
Cranioectodermal Dysplasia 2
Unilateral ptosis, Cholangitis, Atrial septal defect, Patent foramen ovale, Syndactyly, Hepatomeg... OMIM:613610
Combined Oxidative Phosphorylation Deficiency 41
Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... OMIM:618838
Splenoportal Vascular Anomalies
Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites OMIM:271500
Glycogen Storage Disease Iii
Ventricular hypertrophy, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase concent... OMIM:232400
Maxillonasal Dysplasia
Flat face ORPHA:1248
Dilated Cardiomyopathy With Ataxia
Prolonged QT interval, Lower limb spasticity, Ataxia, Repetitive compulsive behavior, Microvesicu... ORPHA:66634
Cebalid Syndrome
Thick eyebrow, Flat face, Highly arched eyebrow OMIM:618774
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Primary Myelofibrosis
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Anorexia, Thromboc... ORPHA:824
Fanconi Anemia, Complementation Group V
Elevated circulating alpha-fetoprotein concentration, Thrombocytopenia, Bone marrow hypocellulari... OMIM:617243
Intellectual Disability And Myopathy Syndrome
Flat face OMIM:619719
Amyloidosis, Familial Visceral
Splenomegaly, Hepatomegaly, Cholestasis, Edema OMIM:105200
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased circulating cortisol level, Cholestasis, Hypoglycemic seizures, Hyperbilirubinemia, Pol... OMIM:609734
Immunodeficiency 96
Conjunctival telangiectasia, Increased proportion of gamma-delta T cells, Increased mean corpuscu... OMIM:619774
Atrial Standstill 2
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Dilatation of the ventricular cavity, Hy... OMIM:615745
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hyperextensibility of the finger joints, Fetal ascites, Synophrys, Hypocalcemia, Low frustration ... OMIM:619503
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome
Flat face ORPHA:2994
Alg8-Cdg
Hyponatremia, Ataxia, Anemia, Talipes equinovarus, Camptodactyly, Ascites, Thrombocytopenia, Brac... ORPHA:79325
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia ORPHA:2239
Wt Limb-Blood Syndrome
Pancytopenia, Ulnar deviation of the 3rd finger, Absent thumb, Short thumb, Ulnar deviation of th... OMIM:194350
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Small hand, Short foot, Hyperphosphatemia, Hypocalcemia, Short palm, Hypocalcemic seizures OMIM:241410
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Dystonia, Ataxia, Cardiac arrest, Elevated circulating creatine kinase concentration, Oral-pharyn... OMIM:616878
Bardet-Biedl Syndrome 9
Renal insufficiency, Polydipsia, Polyphagia OMIM:615986
Hereditary Methemoglobinemia
Spastic tetraplegia, Athetosis, Hypertonia, Limb dystonia, Spasticity, Methemoglobinemia ORPHA:621
Hardikar Syndrome
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Atrial septal defect, Patent foramen... OMIM:301068
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Bradycardia OMIM:618815
Juvenile Polyposis Syndrome
Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Neoplasm of the pancreas, Brain ab... ORPHA:2929
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Methylmalonic acidemia, Hypomethioninemia, Confusion, Megaloblastic anemia, Tremor, Hyperhomocyst... OMIM:277400
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated cardiomyo... OMIM:600649
Hemochromatosis, Type 5
Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormal circulati... OMIM:615517
Sengers Syndrome
Cardiac arrest, Sudden cardiac death, Mental deterioration, Pulmonary arterial hypertension, Hype... OMIM:212350
Yellow Fever
Shock, Acute pancreatitis, Neutrophilia, Elevated circulating creatine kinase concentration, Supr... ORPHA:99829
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hepatomegaly, Ataxia, Tremor, Splenomegaly, Irritability, Decreased serum zinc, Emotional labilit... OMIM:201100
Sheehan Syndrome
Hyponatremia, Decreased circulating cortisol level, Orthostatic hypotension, Hypoglycemia, Normoc... ORPHA:91355
Lopes-Maciel-Rodan Syndrome
Tremor, Unsteady gait, Small hand, Bruxism, Dysphagia, Abnormal pyramidal sign, Short foot, Brady... OMIM:617435
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia OMIM:206400
Dentatorubral Pallidoluysian Atrophy
Ataxia, Involuntary movements, Dyssynergia, Impaired proprioception, Dysmetria, Gait ataxia, Chor... ORPHA:101
Stuve-Wiedemann Syndrome 2
Bowing of the long bones, Congestive heart failure, Dysphagia, Camptodactyly, Pulmonary arterial ... OMIM:619751
Aicardi-Goutieres Syndrome 7
Generalized lymphadenopathy, Hypertonia, Hepatic steatosis, Hemolytic anemia, Hepatomegaly, Peric... OMIM:615846
Mucus Inspissation Of Respiratory Tract
Recurrent respiratory infections, Atelectasis, Bronchiectasis OMIM:253240
Autosomal Dominant Progressive External Ophthalmoplegia
Elevated circulating creatine kinase concentration, Tremor, Gait ataxia, Glucose intolerance, Abn... ORPHA:254892
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Cryptorchidism, Abnormal facial shape, Flat face ORPHA:464288
Spinocerebellar Ataxia 42
Spastic ataxia, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Unsteady gait, Spastic ga... OMIM:616795
Monosomy 22
Aplasia of the thymus, Synophrys, Hypochromic microcytic anemia, Hepatosplenomegaly, Joint swelli... ORPHA:96123
Hennekam Syndrome
Finger syndactyly, Epicanthus, Camptodactyly of finger, Pericardial effusion, Splenomegaly, Pulmo... ORPHA:2136
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Mirage Syndrome
Hyponatremia, Hypoglycemia, Rocker bottom foot, Radial club hand, Hyperkalemia, Paraplegia, Anemi... OMIM:617053
Galactokinase Deficiency
Psychomotor deterioration, Hepatomegaly, Speech apraxia, Hypoglycemia, Hyperinsulinemia, Hepatosp... ORPHA:79237
Ghosal Hematodiaphyseal Dysplasia
Bowing of the long bones, Splenomegaly, Abnormal tibia morphology, Abnormal femur morphology, Abn... ORPHA:1802
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Hypomethioninemia, Pulmonary embolism, Megaloblastic anemia, Hyperhomocystinemia, Neutropenia, Le... ORPHA:79282
Metaphyseal Acroscyphodysplasia
Flat face ORPHA:1240
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Ataxia, Tremor, Cryptorchidism, Intention tremor, Flat face, Oligohydramnios OMIM:614052
Cardiogenic Shock
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... ORPHA:97292
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Abnormal abdomen morphology, Hypercalcemia OMIM:211000
Peroxisome Biogenesis Disorder 12A (Zellweger)
Epicanthus, Hyperbilirubinemia, Atrial septal defect, Elevated circulating long chain fatty acid ... OMIM:614886
Richieri Costa-Da Silva Syndrome
Falls, Inability to walk, Low anterior hairline, Flat face ORPHA:3101
Hsd10 Disease
Short attention span, Ataxia, Tremor, Rigidity, Choreoathetosis, Gait disturbance, Myoclonus, Dys... ORPHA:391417
Follicular Lymphoma
Abnormal peritoneum morphology, Lymphedema, Splenomegaly, Mediastinal lymphadenopathy, Lymphadeno... ORPHA:545
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Spontaneous, recurrent epistaxis, Hepatomegaly, Ataxia... OMIM:214500
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, H... OMIM:618398
Spinocerebellar Ataxia, Autosomal Recessive 20
Hepatomegaly, Coarse facial features, Ataxia, Splenomegaly, Inability to walk, Babinski sign, Bro... OMIM:616354
3-Methylglutaconic Aciduria, Type Viib
Rhizomelia, Ataxia, Neonatal hypoglycemia, Tremor, Congestive heart failure, Neutropenia, Opistho... OMIM:616271
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy
Waddling gait, Elevated circulating creatine kinase concentration, Tremor, Shuffling gait, Fascic... ORPHA:209335
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Exaggerated startle response, Oculogyric crisis, Tongue thrusting, Babinski sign, Li... OMIM:608643
Galactosemia Iii
Splenomegaly, Jaundice, Hypergalactosemia, Hepatomegaly OMIM:230350
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Spastic ataxia, Impaired distal proprioception, Tremor, Babinski sign, Slurred speech, Impaired v... ORPHA:137898
Aregenerative Anemia
Pancytopenia, Fatigable weakness of skeletal muscles, Erythroid hypoplasia, Reticulocytopenia, De... ORPHA:101096
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Hepatomegaly, Telecanthus, Ventricular septal defect, Rocker bottom foot, Elevated circulating cr... OMIM:301056
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, Ano... OMIM:619381
Aggressive Systemic Mastocytosis
Gastrointestinal hemorrhage, Pancytopenia, Portal hypertension, Anorexia, Hypersplenism, Thromboc... ORPHA:98850
Pyruvate Dehydrogenase E1-Alpha Deficiency
Increased serum pyruvate, Tremor, Choreoathetosis, Myoclonus, Dystonia, Episodic ataxia, Hyperala... OMIM:312170
Congenital Erythropoietic Porphyria
Hemolytic anemia, Reticulocytosis, Anisocytosis, Splenomegaly, Abnormal circulating porphyrin con... ORPHA:79277
Cholestasis, Benign Recurrent Intrahepatic, 1
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbilirubinemia, Int... OMIM:243300
Kenny-Caffey Syndrome, Type 2
Transient hypophosphatemia, Hyperphosphatemia, Hypocalcemia, Anemia, Abnormality of the medullary... OMIM:127000
Autosomal Dominant Spastic Paraplegia Type 29
Babinski sign, Clonus, Hyperbilirubinemia ORPHA:101009
Simosa Craniofacial Syndrome
Highly arched eyebrow, Sparse eyebrow, Abnormal hair morphology, Flat face, Long face OMIM:182150
Proteasome-Associated Autoinflammatory Syndrome 3
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Lymphadenopathy, Anemia, Finger swelling, Conju... OMIM:617591
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Clonus, Rigidity, Babinski sign, Hypertonia, Bradycardia, Myoclonic spasms, Limb hypertonia OMIM:614498
Spastic Paraplegia 29, Autosomal Dominant
Lower limb spasticity, Hyperactivity, Clonus, Spastic paraplegia, Babinski sign, Upper limb spast... OMIM:609727
Rhizomelic Dysplasia, Patterson-Lowry Type
Large face, Flat face ORPHA:2831
Recurrent Respiratory Papillomatosis
Atelectasis, Abnormal lung morphology, Recurrent pneumonia, Recurrent upper respiratory tract inf... ORPHA:60032
Acquired Central Diabetes Insipidus
Pollakisuria, Polydipsia ORPHA:95626
Hemorrhagic Fever-Renal Syndrome
Anuria, Acute tubulointerstitial nephritis, Intracranial hemorrhage, Tubulointerstitial nephritis... ORPHA:340
Phosphoglycerate Dehydrogenase Deficiency
Megaloblastic anemia, Spastic tetraplegia, Hypertonia, Thrombocytopenia, Adducted thumb OMIM:601815
Erythrocytosis, Familial, 1
Myocardial infarction, Cerebral hemorrhage, Splenomegaly, Increased hemoglobin, Increased red blo... OMIM:133100
Thyrocerebrorenal Syndrome
Slurred speech, Nonprogressive cerebellar ataxia, Thrombocytopenia, Myoclonus ORPHA:3327
Blepharophimosis-Intellectual Disability Syndrome, Mkb Type
Coarse facial features, Triangular face ORPHA:293707
Atrial Fibrillation, Familial, 10
Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Left atrial enlargement,... OMIM:614022
Long Qt Syndrome 16
T-wave alternans, Second degree atrioventricular block, Perimembranous ventricular septal defect,... OMIM:618782
Aapoaiv Amyloidosis
Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Diabetes mellitus, Ca... ORPHA:439232
Congenital Bile Acid Synthesis Defect Type 1
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, C... ORPHA:79301
Transaldolase Deficiency
Hepatomegaly, Pancytopenia, Thrombocytopenia, Micronodular cirrhosis, Splenomegaly, Synophrys, He... OMIM:606003
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anisocytosis, Decreased serum iron, Decreased mean corpuscular volume, Elliptocytosis, Poikilocyt... OMIM:616959
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Hepatomegaly, Sparse scalp hair, Sparse eyelashes, Portal hypertension, Sparse eyebrow, Splenomeg... ORPHA:59303
Aicardi-Goutieres Syndrome 1
Hepatomegaly, Splenomegaly, Inability to walk, Vasculitis, Cardiomyopathy, Prolonged neonatal jau... OMIM:225750
Reynolds Syndrome
Gastrointestinal hemorrhage, Calcinosis, Hepatomegaly, Raynaud phenomenon, Splenomegaly, Jaundice... OMIM:613471
Developmental Delay And Seizures With Or Without Movement Abnormalities
Ataxia, Tremor, Rigidity, Bradykinesia, Dystonia OMIM:617836
Inherited Creutzfeldt-Jakob Disease
Short attention span, Confusion, Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal pyr... ORPHA:282166
X-Linked Dystonia-Parkinsonism
Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospasm, Bradykinesi... ORPHA:53351
Congenital Disorder Of Glycosylation, Type Iir
Decreased proportion of CD4-positive T cells, Hepatomegaly, Elevated hepatic transaminase, Jaundi... OMIM:301045
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Portal hypertension, Lymphedema, Splenomegaly, Jaundice, Abnormality of the lymphat... ORPHA:1414
Forsythe-Wakeling Syndrome
Thrombocytopenia OMIM:613606
Kufor-Rakeb Syndrome
Torticollis, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Paraparesis, Babinski sign, Spasti... OMIM:606693
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Hepatomegaly, Left ventricular noncompaction cardiomyopathy, Elevated circulating creatine kinase... OMIM:619424
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Round face, Synophrys, Flat face, Thick eyebrow OMIM:602562
Hereditary Central Diabetes Insipidus
Polydipsia ORPHA:30925
Parkinson Disease 17
Resting tremor, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia OMIM:614203
Leukoencephalopathy With Calcifications And Cysts
Ataxia, Cerebral hemorrhage, Tremor, Abnormal pyramidal sign, Gait disturbance, Cognitive impairm... ORPHA:542310
Bleeding Disorder, Platelet-Type, 19
Thrombocytopenia, Macrothrombocytopenia, Epistaxis, Anemia OMIM:616176
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Sudden cardiac death, Pericardial effusion, Congestive heart failure, Dilated cardiomyopathy, Hep... ORPHA:73224
Degcags Syndrome
Oral-pharyngeal dysphagia, Synophrys, Vocal cord paralysis, Leukopenia, Iron deficiency anemia, A... OMIM:619488
Hypothyroidism Due To Tsh Receptor Mutations
Increased circulating thyroglobulin level, Delayed proximal femoral epiphyseal ossification, Brad... ORPHA:90673
Ataxia With Vitamin E Deficiency
Diabetes mellitus, Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetria, Dy... ORPHA:96
Xeroderma Pigmentosum, Complementation Group G
Tremor, Spasticity, Ataxia OMIM:278780
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, T... OMIM:255120
Schimke Immuno-Osseous Dysplasia
Wide capital femoral epiphyses, Transient ischemic attack, Abnormal femoral head morphology, Thro... ORPHA:1830
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Epistaxis, Reduced platelet ... OMIM:314050
Schwartz-Jampel Syndrome, Type 1
Waddling gait, Decreased testicular size, Generalized hirsutism, Long eyelashes in irregular rows... OMIM:255800
Griscelli Syndrome Type 2
Hepatomegaly, Pancytopenia, Splenomegaly, Hyperlipidemia, Jaundice, Lymphadenopathy, Hypertonia, ... ORPHA:79477
Retinitis Pigmentosa 59
Elevated hepatic transaminase, Hepatomegaly, Cryptorchidism, Spasticity, Cystoid macular edema OMIM:613861
Methylmalonic Aciduria, Cblb Type
Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Hyperammonemia, Anemia, Hyperglycinemia, Neut... OMIM:251110
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Broad-based gait, Epicanthus, Limb ataxia, Persistence of hemoglobin F, Self-injurious behavior, ... OMIM:617101
Pyruvate Carboxylase Deficiency
Increased serum pyruvate, Hepatomegaly, Hypoglycemia, Clonus, Athetosis, Hyperalaninemia OMIM:266150
Biliary, Renal, Neurologic, And Skeletal Syndrome
Conjugated hyperbilirubinemia, Secundum atrial septal defect, Primum atrial septal defect, Inlet ... OMIM:619534
Bile Acid Synthesis Defect, Congenital, 4
Hepatomegaly, Giant cell hepatitis, Intrahepatic cholestasis, Hematochezia, Prolonged neonatal ja... OMIM:214950
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Decreased serum iron, Hypereosinophilia, Lymphadenopathy, Abnormal proport... OMIM:212050
Classic Phenylketonuria
Tremor, Paraplegia, Depression, Self-injurious behavior, Hypertonia, Hemiplegia, Attention defici... ORPHA:79254
Noonan Syndrome 12
Ventricular septal defect, Proximal placement of thumb, Tetralogy of Fallot, Lymphopenia, Thrombo... OMIM:618624
Combined Oxidative Phosphorylation Deficiency 55
Epicanthus, Elevated circulating creatine kinase concentration, Bilateral ptosis, Hypophosphatemi... OMIM:619743
Galloway-Mowat Syndrome 3
Epicanthus, Arachnodactyly, Hypertension, Hypoalbuminemia, Camptodactyly, Spasticity, Downslanted... OMIM:617729
Alagille Syndrome
Hepatomegaly, Round face, Coarse facial features, Cryptorchidism, Cholestasis, Reduced number of ... ORPHA:52
Primary Biliary Cholangitis
Orthostatic hypotension, Portal hypertension, Conjugated hyperbilirubinemia, Jaundice, Biliary ci... ORPHA:186
Addison Disease
Normocytic anemia, Hyponatremia, Orthostatic hypotension, Decreased circulating cortisol level, S... ORPHA:85138
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Proximal tubulopathy, Polyuria OMIM:560000
Behr Syndrome
Ataxia, Tremor, Babinski sign, Unsteady gait, Dysmetria, Gait disturbance, Progressive spasticity... OMIM:210000
East Syndrome
Salt craving, Renal salt wasting, Renal magnesium wasting, Enuresis, Abnormal urinary electrolyte... ORPHA:199343
Classic Mycosis Fungoides
Hepatomegaly, Alopecia, Edema, Splenomegaly, Lymphadenopathy, Abnormal lymphocyte morphology ORPHA:2584
Velocardiofacial Syndrome
Ventricular septal defect, Aggressive behavior, Narrow palpebral fissure, Hypocalcemia, Blepharop... OMIM:192430
Familial Cold Autoinflammatory Syndrome 2
Splenomegaly, Leukocytosis, Elevated circulating C-reactive protein concentration, Lymphadenopathy OMIM:611762
Hemochromatosis, Neonatal
Hypoglycemia, Increased circulating ferritin concentration, Cholestasis, Hepatocellular necrosis,... OMIM:231100
Acute Myelomonocytic Leukemia
Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia ORPHA:517
Spinocerebellar Ataxia 2
Impaired vibratory sensation, Ataxia, Parkinsonism, Postural tremor, Rigidity, Babinski sign, Uns... OMIM:183090
Atypical Progressive Supranuclear Palsy Syndrome
Speech apraxia, Freezing of gait, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidit... ORPHA:99750
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Hepatomegaly, Lymphedema, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Abnormality of extrapy... ORPHA:79279
Chronic Visceral Acid Sphingomyelinase Deficiency
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Ataxia, Apraxia, Abn... ORPHA:77293
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Giant cell hepatitis, Hepatomegaly, Ventricular septal defect, Conjugated hyperbilirubinemia, Jau... OMIM:613404
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia OMIM:179800
Congenital Disorder Of Glycosylation, Type Iif
Aortic regurgitation, Ataxia, Macrothrombocytopenia, Neutropenia, Clinodactyly, Decreased platele... OMIM:603585
Glycogen Storage Disease Ii
Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Increased circulating NT-proB... OMIM:232300
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Freezing of gait, Akinesia, Tremor, Rigidity, Unsteady gait, Blepharospasm, Spastic dysarthria, B... ORPHA:240094
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Myoclonus, Dystonia ORPHA:139485
Thrombocytopenia 7
Reduced platelet alpha granules, Impaired ristocetin-induced platelet aggregation, Impaired ADP-i... OMIM:619130
Brain Dopamine-Serotonin Vesicular Transport Disease
Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog... ORPHA:352649
Cataract-Ataxia-Deafness Syndrome
Tremor, Hypertonia, Ataxia ORPHA:1368
Typhoid
Gastrointestinal hemorrhage, Hepatomegaly, Ataxia, Epistaxis, Cardiac arrest, Tremor, Splenomegal... ORPHA:99745
20Q11.2 Microduplication Syndrome
Coarse facial features, Palpebral edema, Periorbital edema, Cryptorchidism, Flat face, Lingual dy... ORPHA:363659
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Prolonged QT interval, Abnormal EKG, Incoordination, Ataxia, Elevated circulating creatine kinase... ORPHA:480864
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Conjugated hyperbilirubinemia, Abnormal circulating thyroglobulin level, Prolonged neonatal jaundice ORPHA:95715
Acquired Purpura Fulminans
Shock, Elevated circulating C-reactive protein concentration, Intracranial hemorrhage, Internal h... ORPHA:49566
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Tremor, Ataxia, Gait ataxia OMIM:617831
Autoimmune Lymphoproliferative Syndrome, Type Iia
Gastrointestinal hemorrhage, Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic non... OMIM:603909
Fanconi-Bickel Syndrome
Hepatomegaly, Hypouricemia, Intrahepatic cholestasis, Hypophosphatemia, Glycosuria, Hypokalemia, ... OMIM:227810
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Incoordination, Tremor, Paraparesis, Babinski sign, Dysmetria, Hand tremor, Distal sensory impair... OMIM:302800
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Round face, Flat face OMIM:617333
Atypical Hemolytic Uremic Syndrome
Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:2134
Juvenile Sialidosis Type 2
Hepatomegaly, Lower limb spasticity, Coarse facial features, Ataxia, Dysmetria, Hepatosplenomegal... ORPHA:93399
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Abnormal hemoglobin, Polyhydramnios, Splenomegaly, Hydrops fetalis, Anemia, Oligohy... ORPHA:163596
Romano-Ward Syndrome
Sudden cardiac death, Sinus bradycardia, Hypokalemia, Syncope, Torsade de pointes, Abnormal T-wav... ORPHA:101016
Aicardi-Goutieres Syndrome 5
Irritability, Spasticity, Thrombocytopenia OMIM:612952
Fumarase Deficiency
Intrahepatic cholestasis, Conjunctival icterus, Perimembranous ventricular septal defect, Hyperbi... OMIM:606812
Dystonia 13, Torsion, Autosomal Dominant
Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... OMIM:607671
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Leukocyte inclusion bodies, Epistaxis, Myocardial infarction, Giant platelets, Macrothrombocytope... OMIM:155100
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Tricuspid regurgitation, Cardiomegaly, Hyperammonemia, Limb ataxia, Pulm... OMIM:619051
Long Qt Syndrome 15
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... OMIM:616249
Myoclonic-Atonic Epilepsy
Tremor, Ataxia, Eyelid myoclonus OMIM:616421
Oculopharyngodistal Myopathy 4
Postural tremor, Elevated circulating creatine kinase concentration, Tremor, Dysphagia, Ptosis OMIM:619790
Kikuchi-Fujimoto Disease
Hepatomegaly, Generalized lymphadenopathy, Ataxia, Palpebral edema, Elevated circulating C-reacti... ORPHA:50918
X-Linked Intellectual Disability, Nascimento Type
Recurrent cutaneous abscess formation, Overlapping toe, Ventricular septal defect, Aggressive beh... ORPHA:163956
Gaucher Disease
Elevated circulating C-reactive protein concentration, Tremor, Hepatomegaly, Ataxia, Abnormal per... ORPHA:355
Chondrodysplasia With Joint Dislocations, Gpapp Type
Flat face OMIM:614078
Lead Poisoning
Decreased HDL cholesterol concentration, Anorexia, Imbalanced hemoglobin synthesis, Poor gross mo... ORPHA:330015
Joubert Syndrome 33
Oculomotor apraxia, Splenomegaly, Ataxia OMIM:617767
Sandhoff Disease
Hepatomegaly, Exaggerated startle response, Orthostatic hypotension, Ataxia, Cardiomegaly, Progre... OMIM:268800
Cholesteryl Ester Storage Disease
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Cirrhosis, Hypercholesterolemia ORPHA:75234
Juvenile Neuronal Ceroid Lipofuscinosis
Tachycardia, Poor motor coordination, Parkinsonism, Depression, Clumsiness, Poor fine motor coord... ORPHA:79264
Wars2-Related Combined Oxidative Phosphorylation Defect
Ataxia, Neonatal hypoglycemia, Aggressive behavior, Tremor, Spastic tetraplegia, Dysphagia, Dysme... ORPHA:572798
Elliptocytosis 2
Hemolytic anemia, Elliptocytosis, Neonatal hyperbilirubinemia, Reticulocytosis OMIM:130600
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Hypoglycemia, Elevated circulating creatine kinase concentration, Dilated cardiomyopathy, Hyperam... OMIM:618120
Beta-Ketothiolase Deficiency
Hepatomegaly, Ataxia, Hypoglycemia, Anorexia, Leukocytosis, Hyperammonemia, Spasticity, Hypertens... ORPHA:134
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion OMIM:183350
Morgagni-Stewart-Morel Syndrome
Diabetes mellitus, Depression, Memory impairment, Hypertension, Hyperuricemia, Cognitive impairme... ORPHA:77296
Combined Oxidative Phosphorylation Deficiency 18
Macrocytic anemia, Increased mitochondrial number, Tremor, Dysmetria, Hypersegmentation of neutro... OMIM:615578
Trisomy X
Epicanthus, Tremor, Depression, Upslanted palpebral fissure, Attention deficit hyperactivity diso... ORPHA:3375
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy OMIM:618852
Bile Acid Conjugation Defect 1
Conjugated hyperbilirubinemia, Hepatomegaly, Jaundice OMIM:619232
Shigellosis
Hyponatremia, Hypoglycemia, Abscess, Anorexia, Myocarditis, Leukocytosis, Peritonitis, Abnormal b... ORPHA:810
9Q31.1Q31.3 Microdeletion Syndrome
Abnormal facial shape, Flat face, Thick hair, Highly arched eyebrow ORPHA:401923
Glycosylphosphatidylinositol Biosynthesis Defect 15
Tremor, Inability to walk, Dysmetria, Gait ataxia, Apraxia, Spasticity OMIM:617810
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Fetal Gaucher Disease
Hepatomegaly, Pancytopenia, Splenomegaly, Abnormality of the spleen, Intracranial hemorrhage, Hyp... ORPHA:85212
Legionnaires Disease
Hyponatremia, Pericarditis, Ataxia, Anorexia, Myocarditis, Splenomegaly, Jaundice, Hepatitis, End... ORPHA:549
Ataxia-Telangiectasia
Conjunctival telangiectasia, Diabetes mellitus, Ataxia, Elevated circulating alpha-fetoprotein co... OMIM:208900
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia OMIM:611938
Renal Hypoplasia, Bilateral
Proteinuria, Chronic kidney disease, Oliguria, Renal hypoplasia, Renal cyst, Beta 2-microglobulin... ORPHA:97362
Non-Specific Early-Onset Epileptic Encephalopathy
Ataxia, Abnormality of coordination, Impulsivity, Involuntary movements, Tremor, Rigidity, Unstea... ORPHA:442835
Juvenile Nephropathic Cystinosis
Renal insufficiency, Proteinuria, Chronic kidney disease, Abnormal urine potassium concentration,... ORPHA:411634
Alpha-1-Antitrypsin Deficiency
Reduced serum alpha-1-antitrypsin, Splenomegaly, Cirrhosis, Hepatocellular carcinoma OMIM:613490
Niemann-Pick Disease, Type C1
Hepatomegaly, Fatal liver failure in infancy, Dystonia, Ataxia, Fetal ascites, Bone-marrow foam c... OMIM:257220
Erdheim-Chester Disease
Renal insufficiency, Polydipsia, Dysuria, Congestive heart failure, Abnormal pulmonary interstiti... ORPHA:35687
Cholestasis, Progressive Familial Intrahepatic, 3
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Po... OMIM:602347
Amegakaryocytic Thrombocytopenia, Congenital, 1
Amegakaryocytic thrombocytopenia, Pancytopenia, Thrombocytopenia OMIM:604498
Parenteral Nutrition-Associated Cholestasis
Hepatomegaly, Portal hypertension, Conjugated hyperbilirubinemia, Splenomegaly, Hyperlipidemia, A... ORPHA:567983
Bronchopulmonary Dysplasia
Right ventricular failure, Atelectasis, Abnormal lung morphology, Pulmonary sequestration, Emphysema ORPHA:70589
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Dystonia, Parkinsonism, Tremor, Rigidity, Head titubation, Inability to walk, Gait ataxia, Choreo... OMIM:618877
Isolated Agammaglobulinemia
Recurrent cutaneous abscess formation, Abnormality of the tonsils, Clinodactyly of the 5th toe, A... ORPHA:229717
Codas Syndrome
Extrahepatic biliary duct atresia, Flat face ORPHA:1458
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Cholestasis, Progressive Familial Intrahepatic, 5
Hypoglycemia, Elevated circulating alpha-fetoprotein concentration, Conjugated hyperbilirubinemia... OMIM:617049
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Atelectasis, Bronchiectasis OMIM:615872
Late-Infantile/Juvenile Krabbe Disease
Lower limb spasticity, Ataxia, Tremor, Neuromuscular dysphagia, Mental deterioration, Slurred spe... ORPHA:206443
Parkinsonism-Dystonia 3, Childhood-Onset
Ataxia, Parkinsonism, Tremor, Chorea, Hypertonia, Hyperkinetic movements, Dystonia, Action tremor OMIM:619738
Rh-Null, Regulator Type
Hemolytic anemia, Jaundice, Stomatocytosis, Unconjugated hyperbilirubinemia OMIM:268150
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Granulomatous Slack Skin
Hypercalcemia, Abnormal lymph node morphology ORPHA:33111
Hypereosinophilic Syndrome, Idiopathic
Splenomegaly, Hepatomegaly, Eosinophilia, Myeloproliferative disorder OMIM:607685
Neuronal Intranuclear Inclusion Disease
Ataxia, Tremor, Rigidity, Syncope, Gait disturbance, Dementia, Cognitive impairment OMIM:603472
Bartter Syndrome, Type 2, Antenatal
Hyperchloriduria, Polyuria, Renal salt wasting, Increased urinary potassium, Hypercalciuria, Low-... OMIM:241200
Craniofacioskeletal Syndrome
Absent gallbladder, Atrial septal defect, Ventricular septal defect, Blepharophimosis, Small hand... OMIM:300712
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Resting tremor, Restlessness, Ataxia, Parkinsonism, Tremor, Babinski sign, Small hand, Bruxism, S... OMIM:300055
Cyanosis, Transient Neonatal
Reticulocytosis, Hepatomegaly, Jaundice, Methemoglobinemia, Anemia OMIM:613977
Portal Hypertension, Noncirrhotic, 1
Splenomegaly, Hepatomegaly, Portal hypertension, Elevated hepatic transaminase OMIM:617068
Developmental And Epileptic Encephalopathy 89
Highly arched eyebrow, Sparse eyebrow, Hypertonia, Hyperkinetic movements, Tetraparesis, Dystonia... OMIM:619124
Adenine Phosphoribosyltransferase Deficiency
2,8-dihydroxyadenine crystalluria, Renal insufficiency, Urolithiasis, Nephrolithiasis, Oliguria, ... OMIM:614723
Digeorge Syndrome
Ventricular septal defect, Short palpebral fissure, Splenomegaly, Anemia, Hemiparesis, Abnormal t... OMIM:188400
Nephrotic Syndrome, Type 8
Hypoalbuminemia OMIM:615244
Developmental And Epileptic Encephalopathy 32
Tremor, Ataxia, Myoclonus OMIM:616366
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... OMIM:617514
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Waddling gait, Flat face OMIM:608728
Spinocerebellar Ataxia 15
Postural tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Action tremor OMIM:606658
Progressive Supranuclear Palsy
Dystonia, Impulsivity, Tremor, Rigidity, Unsteady gait, Depression, Blepharospasm, Abnormal synap... ORPHA:683
Carnitine Palmitoyl Transferase 1A Deficiency
Hepatomegaly, Hypoglycemia, Sudden cardiac death, Hemiplegia/hemiparesis, Arrhythmia, Transient h... ORPHA:156
Moyamoya Disease 6 With Or Without Achalasia
Raynaud phenomenon, Hemiparesis, Hypertension, Ischemic stroke, Dysphagia, Thrombocytopenia OMIM:615750
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Elevated circulating creatine kinase concentrat... ORPHA:264580
Non-Involuting Congenital Hemangioma
Congestive heart failure, Telangiectasia of the skin, Hepatic hemangioma, Thrombocytopenia ORPHA:141179
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Atax... OMIM:613470
Pancreatic Lipase Deficiency
Hypocholesterolemia, Steatorrhea OMIM:614338
Glycogen Storage Disease Ixb
Hepatomegaly, Hypoglycemia, Splenomegaly, Hyperuricemia, Increased hepatic glycogen content OMIM:261750
Amelogenesis Imperfecta, Type Ig
Renal insufficiency, Polyuria, Impaired renal concentrating ability, Nephrocalcinosis, Enuresis OMIM:204690
Atrial Septal Defect 6
Atrial septal defect, Atrial fibrillation, Bradycardia OMIM:613087
Glucagonoma
Gastrointestinal hemorrhage, Hepatomegaly, Neoplasm of the pancreas, Diabetes mellitus, Hypercalc... ORPHA:97280
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Palpebral edema, Pulmonary embolism, Hyperlipidemia, Hypertension, Hypoalbuminemia, Ascites ORPHA:567546
Down Syndrome
Impaired pain sensation, Abnormality of the lymphatic system, Gait disturbance, Sparse hair, Flat... ORPHA:870
Cinca Syndrome
Hepatomegaly, Abnormality of thrombocytes, Abnormality of neutrophils, Elevated circulating C-rea... ORPHA:1451
Monosomy 13Q34
Epicanthus, Epistaxis, Hypercalcemia, Postaxial hand polydactyly, Insulin resistance, Hematochezi... ORPHA:96168
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Chorea, Abnormal pyramidal sign, Opisthotonus, Gait ataxia, Hypertonia, Lethargy, Confusion, Cran... OMIM:607483
Glycogen Storage Disease Of Heart, Lethal Congenital
Prolonged QRS complex, Neonatal hypoglycemia, Left axis deviation, Cardiomegaly, Congestive heart... OMIM:261740
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Pancytopenia, Hypoglycemia, Elevated circulating creatinine concentration, Increase... OMIM:617872
Silver-Russell Syndrome Due To 11P15 Microduplication
Triangular face, Facial asymmetry, Oligohydramnios ORPHA:231144
X-Linked Charcot-Marie-Tooth Disease Type 5
Ataxia, Impaired pain sensation, Tremor, Paraparesis, Gait disturbance ORPHA:99014
Peroxisome Biogenesis Disorder 1A (Zellweger)
Intrahepatic biliary dysgenesis, Hepatomegaly, Round face, Cryptorchidism, Unsteady gait, Prolong... OMIM:214100
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Renal insufficiency, Polyuria, Increased urinary potassium, Renal salt wasting,... OMIM:613090
Short-Rib Thoracic Dysplasia 12
Hepatomegaly, Edema, Polyhydramnios, Splenomegaly, Periportal fibrosis, Hypoplastic nipples, Asci... OMIM:269860
Toxic Epidermal Necrolysis
Gastrointestinal hemorrhage, Recurrent respiratory infections, Renal insufficiency, Dysuria, Sudd... ORPHA:537
Cln5 Disease
Hyperactivity, Abnormal central motor function, Ataxia, Aggressive behavior, Tremor, Inability to... ORPHA:228360
Zellweger Syndrome
Hepatomegaly, Cryptorchidism, Jaundice, Hepatic failure, Flat face ORPHA:912
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... OMIM:617394
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Akinesia, Cardiomegaly, Progressive neurologic deterioration, Splenomegaly, Hepatos... OMIM:608013
Combined Oxidative Phosphorylation Deficiency 40
Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... OMIM:618835
Combined Oxidative Phosphorylation Deficiency 42
Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... OMIM:618839
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Xfe Progeroid Syndrome
Hypertension, Poor coordination, Ascites, Hypoalbuminemia OMIM:610965
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... ORPHA:216694
Rapidly Involuting Congenital Hemangioma
Congestive heart failure, Telangiectasia of the skin, Hepatic hemangioma, Thrombocytopenia ORPHA:141184
Sanjad-Sakati Syndrome
Short foot, Hyperphosphatemia, Small hand, Hypocalcemia ORPHA:2323
Peroxisome Biogenesis Disorder 5B
Ataxia, Tremor, Unsteady gait, Elevated circulating phytanic acid concentration, Dysmetria, Oculo... OMIM:614867
Immunodeficiency 47
Normocytic anemia, Accessory spleen, Hepatomegaly, Tricuspid regurgitation, Decreased circulating... OMIM:300972
Developmental And Epileptic Encephalopathy 101
Third degree atrioventricular block, Myoclonus, Bradycardia, Opisthotonus OMIM:619814
Holocarboxylase Synthetase Deficiency
Hyperammonemia, Irritability, Hypertonia, Lethargy, Thrombocytopenia OMIM:253270
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Elevated circulating C-reactive protein concentration, Leukopenia, Hepatomegaly, Ataxia, Portal h... OMIM:615688
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Bowing of the long bones, Ataxia, Retinal telangiectasia, Tremor, Metaphyseal sclerosis, Abnormal... OMIM:612199
Cystinosis, Nephropathic
Renal insufficiency, Hyperphosphaturia, Proteinuria, Polyuria, Oral-pharyngeal dysphagia, Stage 5... OMIM:219800
Dubin-Johnson Syndrome
Hepatomegaly, Conjugated hyperbilirubinemia, Jaundice, Biliary tract abnormality, Abnormality of ... ORPHA:234
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Clonus, Spastic tetraparesis, Babinski sign, Elevated amniotic fluid alpha-fetoprotein, Prolonged... ORPHA:423479
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Syndactyly, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenom... OMIM:615631
Chondrodysplasia Punctata 2, X-Linked Dominant
Sparse eyelashes, Edema, Polyhydramnios, Sparse eyebrow, Patchy alopecia, Sparse hair, Flat face OMIM:302960
Classic Progressive Supranuclear Palsy Syndrome
Axial dystonia, Progressive extrapyramidal muscular rigidity, Impulsivity, Akinesia, Tremor, Park... ORPHA:240071
Neurodegeneration With Brain Iron Accumulation 1
Tremor, Abnormal pyramidal sign, Choreoathetosis, Eyelid apraxia, Hyperactivity, Ataxia, Parkinso... OMIM:234200
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Tremor, Hepatomegaly, Triangular face, Highly arched eyebrow OMIM:618342
Monomelic Amyotrophy
Tremor, Fasciculations ORPHA:65684
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Coarse facial features, Flat face ORPHA:93346
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Acute pancreatitis, Telecanthus, Hypoglycemia, Elevated circulating creatine kinase... ORPHA:26791
Igg4-Related Thyroid Disease
Pancreatic fibrosis, Retroperitoneal fibrosis, Vocal cord paralysis, Sclerosing cholangitis, Abno... ORPHA:64744
Mucolipidosis Type Ii
Dry hair, Coarse facial features, Splenomegaly, Inability to walk, White hair, Hepatosplenomegaly... ORPHA:576
Diffuse Alveolar Hemorrhage
Leukocytosis, Elevated circulating creatinine concentration, Anemia, Pulmonary venous hypertensio... ORPHA:90060
Ciliary Dyskinesia, Primary, 33
Atelectasis, Recurrent pneumonia, Bronchiectasis, Recurrent lower respiratory tract infections, R... OMIM:616726
Acute Interstitial Pneumonia
Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Atelectasis, Bron... ORPHA:79126
Cernunnos-Xlf Deficiency
Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia ORPHA:169079
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Tremor, Elevated circulating creatine kinase concentration, Fasciculations, Dysphagia OMIM:313200
Autosomal Recessive Polycystic Kidney Disease
Gastrointestinal hemorrhage, Recurrent urinary tract infections, Renal insufficiency, Spontaneous... ORPHA:731
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Ketotic h... ORPHA:79240
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay
Elevated hemoglobin A1c, Tremor, Babinski sign, 2-3 toe syndactyly, Spasticity, Irritability, Glu... OMIM:616539
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Clubbing, Hypoalbuminemia OMIM:614441
Kaufman Oculocerebrofacial Syndrome
Atrial septal defect, Epicanthus, Telecanthus, Ventricular septal defect, Blepharophimosis, Metat... OMIM:244450
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Hypoalbuminemia, Anemia ORPHA:79396
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Atelectasis, Recurrent bronchitis OMIM:300455
Portal Hypertension, Noncirrhotic, 2
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasi... OMIM:619463
Parkinson Disease 7, Autosomal Recessive Early-Onset
Resting tremor, Postural tremor, Rigidity, Leg dystonia, Blepharospasm, Bradykinesia, Parkinsonis... OMIM:606324
Illum Syndrome
Calcinosis, Bradycardia OMIM:208155
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Ataxia, Poor motor coordination, Tremor, Dysmetria, Gait ataxia, Oculomotor apraxia, Spasticity ORPHA:1170
Congenital Pulmonary Lymphangiectasia
Hepatomegaly, Splenomegaly, Hydrops fetalis, Chylopericardium, Pleural effusion, Ascites ORPHA:2414
Adult-Onset Dystonia-Parkinsonism
Eyelid apraxia, Tremor, Frontotemporal dementia, Rigidity, Dysphagia, Depression, Focal dystonia,... ORPHA:199351
Thyrocerebroretinal Syndrome
Slurred speech, Ataxia, Myoclonus, Thrombocytopenia OMIM:274240
Cardiomyopathy, Familial Restrictive, 6
Hepatomegaly, Ascites, Portal vein hypoplasia, Hydrops fetalis OMIM:619433
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Intracranial... ORPHA:3226
Pde4D Haploinsufficiency Syndrome
Cryptorchidism, Coarse facial features, Flat face, Broad face ORPHA:439822
Wild Type Attr Amyloidosis
Abnormal EKG, Hepatomegaly, Myocardial infarction, Congestive heart failure, Bradycardia, Arrhyth... ORPHA:330001
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Recurrent respiratory infections, Atelectasis, Bronchiectasis OMIM:619466
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Abnormal EKG, Elevated circulating creatine kinase concentration, Cardiomegaly, Inability to walk... ORPHA:268
Sea-Blue Histiocytosis
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Blepharitis, Thr... ORPHA:158029
Myopathy, Mitochondrial, And Ataxia
Ataxia, Elevated circulating creatine kinase concentration, Tremor, Inability to walk, Dysmetria,... OMIM:617675
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Reticulocytosis, Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Jaundi... OMIM:194380
Generalized Epilepsy With Febrile Seizures-Plus
Incoordination, Ataxia, Tremor, Bradykinesia, Poor fine motor coordination, Cognitive impairment,... ORPHA:36387
Refsum Disease, Classic
Short fourth metatarsal, Ataxia, Cardiomegaly, Congestive heart failure, Elevated circulating phy... OMIM:266500
Pelger-Huet Anomaly
Ventricular septal defect, Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Gia... OMIM:169400
Silver-Russell Syndrome 4
Triangular face OMIM:618907
Atelis Syndrome 2
Epicanthus, Hyperinsulinemia, Dysmetria, Supravalvar pulmonary stenosis, Anemia, Vitreous hemorrh... OMIM:620185
Immunodeficiency 21
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... OMIM:614172
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Atelectasis, Right bundle branch block, Pulmonary fibrosis, Dysphagia, Bronchiolitis ORPHA:254361
Leukodystrophy, Hypomyelinating, 11
Tremor, Spasticity, Ataxia, Myoclonus OMIM:616494
Pseudohypoparathyroidism, Type Ia
Short metacarpal, Short toe, Short metatarsal, Hyperphosphatemia, Short finger, Cognitive impairm... OMIM:103580
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hypercalcemia, Cerebral hemorrhage, Tremor, Congestive heart failure, Vocal cord paralysis, Palpi... ORPHA:276621
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypernatremia, Hypoalbuminemia, Pulmonic stenosis, Multiple muscular ventricular septal defects OMIM:615508
Adamantinoma
Hypercalcemia ORPHA:55881
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Edema, Impaired temperature sensation, Tremor, Impaired pain sensation, Impaired distal vibration... OMIM:619574
Somatostatinoma
Gastrointestinal hemorrhage, Hepatomegaly, Neoplasm of the pancreas, Diabetes mellitus, Hypercalc... ORPHA:97283
Cranioectodermal Dysplasia 1
Broad toe, Brachydactyly, Short humerus, Rhizomelia, Hepatomegaly, Broad distal phalanges of all ... OMIM:218330
Intellectual Developmental Disorder With Neuropsychiatric Features
Triangular face, Highly arched eyebrow OMIM:617532
Trisomy 12P
Thick eyebrow, Flat face, Supernumerary nipple ORPHA:1699
Pelizaeus-Merzbacher Disease
Psychomotor deterioration, Broad-based gait, Generalized dystonia, Ataxia, Writer's cramp, Tremor... OMIM:312080
Cutis Laxa, Autosomal Recessive, Type Iia
Coarse hair, Brittle hair, Flat face, Abnormality of hair texture OMIM:219200
Vipoma
Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Hypercalcemia, Anorexia, Intrahepatic ... ORPHA:97282
Isolated Biliary Atresia
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Atretic gallbladder, Jaundice, Cholest... ORPHA:30391
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Coarse facial features, Cardiomegaly, Synophrys, Low posterior hairline, Abnormal thymus morpholo... ORPHA:2463
Pyruvate Dehydrogenase Deficiency
Narrow face, Cerebral palsy, Ataxia, Tremor, Abnormal pyramidal sign, Choreoathetosis, Abnormal f... ORPHA:765
Familial Cold Urticaria
Polydipsia ORPHA:47045
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities
Inability to walk, Spasticity, Hypertonia, Thrombocytopenia OMIM:616577
Propionic Acidemia
Hepatomegaly, Hypoglycemia, Hyperammonemia, Cardiomyopathy, Arrhythmia ORPHA:35
4H Leukodystrophy
Ataxia, Tremor, Dysmetria, Progressive gait ataxia, Dysdiadochokinesis, Abnormality of extrapyram... ORPHA:289494
Wolfram Syndrome, Mitochondrial Form
Sideroblastic anemia, Diabetes mellitus, Megaloblastic anemia, Neutropenia, Thrombocytopenia OMIM:598500
Bone Marrow Failure Syndrome 2
Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia OMIM:615715
Adult-Onset Still Disease
Hepatomegaly, Pericarditis, Neutrophilia, Generalized lymphadenopathy, Elevated circulating C-rea... ORPHA:829
Cholestasis, Progressive Familial Intrahepatic, 9
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest... OMIM:619849
Gaucher Disease, Type I
Hepatomegaly, Pancytopenia, Epistaxis, Hypersplenism, Splenomegaly, Anemia, Hypertension, Mitral ... OMIM:230800
Acquired Methemoglobinemia
Tachycardia, Confusion, Syncope, Palpitations, Arrhythmia, Methemoglobinemia ORPHA:464453
Thanatophoric Dysplasia Type 1
Increased nuchal translucency, Flat face, Polyhydramnios ORPHA:1860
Porphyria Cutanea Tarda
Decreased circulating hepcidin concentration, Viral hepatitis, Diabetes mellitus, Hepatocellular ... ORPHA:101330
Spinocerebellar Ataxia Type 21
Akinesia, Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyram... ORPHA:98773
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis ORPHA:66661
Proximal Renal Tubular Acidosis
Hyperphosphaturia, Bicarbonaturia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis, H... ORPHA:47159
Immunodeficiency 87 And Autoimmunity
Elevated circulating C-reactive protein concentration, Atrial septal defect, Atrioventricular can... OMIM:619573
Silver-Russell Syndrome 5
Triangular face OMIM:618908
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Atrial septal defect, Bicuspid aortic valve, Tremor, Decreased serum creatinine, Hypohomocysteine... OMIM:617744
Osteopetrosis, Autosomal Recessive 8
Splenomegaly, Thrombocytopenia, Anemia, Hepatomegaly OMIM:615085
Insulinoma
Nonketotic hypoglycemia, Reactive hypoglycemia, Tremor, Abnormality of the pancreatic islet cells... ORPHA:97279
Immunodeficiency 42
Splenomegaly, Hepatomegaly, Hypoplasia of the thymus OMIM:616622
Lethal Kniest-Like Dysplasia
Polyhydramnios, Flat face, Edema ORPHA:2347
Sudden Cardiac Failure, Infantile
Sudden cardiac death, Myocarditis, Congestive heart failure, Myocardial fibrosis, Bradycardia, Hy... OMIM:617222
Arthrogryposis, Distal, Type 2A
Cryptorchidism, Flat face, Polyhydramnios, Oligohydramnios OMIM:193700
Primary Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Diabetes mellitus, Angina pectoris, Elevated circulating creatine kinase concentrat... ORPHA:565612
Specific Granule Deficiency 2
Absent neutrophil specific granules, Sandal gap, Anemia, Neutropenia, Thrombocytopenia, Brachydac... OMIM:617475
Encephalitis Lethargica
Parkinsonism, Tremor, Bradycardia, Mental deterioration, Lethargy ORPHA:83600
Fanconi Anemia, Complementation Group T
Acute myeloid leukemia, Pancytopenia, Duplication of thumb phalanx, Thrombocytopenia, Short thumb... OMIM:616435
Catastrophic Antiphospholipid Syndrome
Angina pectoris, Transient ischemic attack, Myocardial infarction, Pulmonary embolism, Arterial o... ORPHA:464343
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Tachycardia, Neutrophilia, Hepatomegaly, Eosinophilia,... ORPHA:98849
Mirizzi Syndrome
Tachycardia, Anorexia, Pancreatitis, Jaundice, Cholesterol gallstones, Hyperbilirubinemia, Cholel... ORPHA:521219
Immunodeficiency 46
Conjunctivitis, Neutropenia, Anemia, Intermittent thrombocytopenia OMIM:616740
Platelet Signal Processing Defect
Epistaxis, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggregat... OMIM:173590
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Syndactyly, Arachnodactyly, Ataxia, Tremor, Gait ataxia, Upslanted palpebral fissure, Hypertonia,... OMIM:619092
3-Methylglutaconic Aciduria, Type Viii
Dystonia, Clonus, Tremor, Jaundice, Dysphagia, Hypertonia, Bradycardia, Neutropenia, Neonatal hyp... OMIM:617248
Brucellosis
Liver abscess, Elevated circulating C-reactive protein concentration, Anorexia, Chorea, Leukopeni... ORPHA:1304
Leukodystrophy, Hypomyelinating, 6
Ataxia, Tremor, Rigidity, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity OMIM:612438
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Nonketotic hypoglycemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Sudden... OMIM:201475
Moyamoya Disease With Early-Onset Achalasia
Raynaud phenomenon, Hypertension, Abnormal platelet aggregation, Thrombocytopenia ORPHA:401945
Beta-Propeller Protein-Associated Neurodegeneration
Parkinsonism, Aggressive behavior, Tremor, Rigidity, Bradykinesia, Dementia, Dystonia, Spastic pa... ORPHA:329284
Bartter Syndrome, Type 1, Antenatal
Hyperchloriduria, Polyuria, Renal salt wasting, Increased urinary potassium, Hypercalciuria, Low-... OMIM:601678
Sneddon Syndrome
Bicuspid aortic valve, Cerebral hemorrhage, Tremor, Hypertension, Ischemic stroke, Hemiplegia, Me... OMIM:182410
Phosphoribosylaminoimidazole Carboxylase Deficiency
Bilateral cryptorchidism, Flat face, Polyhydramnios OMIM:619859
Danon Disease
Wolff-Parkinson-White syndrome, Myocardial necrosis, Elevated circulating creatine kinase concent... OMIM:300257
Cholestasis, Benign Recurrent Intrahepatic, 2
Hepatomegaly, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Jaundice, Cholelithiasis OMIM:605479
Dyssegmental Dysplasia, Silverman-Handmaker Type
Cryptorchidism, Flat face, Hydrops fetalis, Hirsutism ORPHA:1865
Spastic Paraplegia 9B, Autosomal Recessive
Tremor, Babinski sign, Spastic paraplegia, Impaired distal vibration sensation, Tetraplegia, Pseu... OMIM:616586
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Pancytopenia, Generalized dystonia, Tachycardia, Ataxia, Aggressive behavior, Chorea, Dilated car... OMIM:618321
Pparg-Related Familial Partial Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Maternal diabetes, Splenomegaly, Congestiv... ORPHA:79083
Congenital Sialidosis Type 2
Hepatomegaly, Coarse facial features, Ataxia, Edema, Dysmetria, Hepatosplenomegaly, Myoclonus, Ge... ORPHA:93400
Neurodevelopmental Disorder With Dysmorphic Facies And Variable Seizures
Synophrys, Triangular face, Hirsutism OMIM:619264
Stiff Person Spectrum Disorder
Exaggerated startle response, Diabetes mellitus, Rigidity, Falls, Difficulty walking, Emotional l... ORPHA:3198
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Atrial fibrillation, Bradycardia OMIM:614302
Blue Diaper Syndrome
Recurrent hypoglycemia, Hyperphosphatemia, Hypercalcemia, Increased proinsulin:insulin ratio ORPHA:94086
Ciliary Dyskinesia, Primary, 21
Atelectasis, Recurrent pneumonia, Bronchiectasis OMIM:615294
Gm1 Gangliosidosis
Tremor, Decerebrate rigidity, Ataxia, Hepatosplenomegaly, Cardiomyopathy, Abnormal diaphysis morp... ORPHA:354
Combined Oxidative Phosphorylation Deficiency 14
Copper accumulation in liver, Anemia, Myoclonus, Elevated hepatic iron concentration, Increased h... OMIM:614946
Peripartum Cardiomyopathy
Ventricular tachycardia, Left bundle branch block, Right ventricular dilatation, Abnormal T-wave,... ORPHA:563
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Hemolytic anemia, Chorea, Lymphopenia, Thrombocytopenia OMIM:616744
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Premature graying of hair, Tremor ORPHA:66633
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response, Abnormal fear-induced behavior, Chorea, Abnormal pyramidal sign, Pr... ORPHA:309246
Niemann-Pick Disease Type C
Bone-marrow foam cells, Fetal ascites, Tremor, Progressive neurologic deterioration, Chorea, Abno... ORPHA:646
Mulibrey Nanism
Hepatomegaly, Cardiomegaly, Hydrops fetalis, Ascites, Triangular face OMIM:253250
Braddock-Carey Syndrome 1
Telecanthus, Aortic valve prolapse, Ventricular septal defect, Small hand, Spastic diplegia, Tali... OMIM:619980
Vexas Syndrome
Macrocytic anemia, Elevated circulating C-reactive protein concentration, Arteritis, Thrombocytop... OMIM:301054
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Ataxia, Postural tremor, Tremor, Babinski sign, Dysmetria, Dystonia, Loss of ambulation, Spasticity OMIM:607694
Bartter Syndrome, Type 5, Antenatal, Transient
Hypercalciuria, Medullary nephrocalcinosis, Polyuria OMIM:300971
Gaucher Disease Type 1
Hepatomegaly, Pancytopenia, Anorexia, Hypersplenism, Splenomegaly, Pericardial effusion, Abnormal... ORPHA:77259
Flat Face-Microstomia-Ear Anomaly Syndrome
Highly arched eyebrow, Sparse eyebrow, Cryptorchidism, Flat face, Long face ORPHA:1968
Lysinuric Protein Intolerance
Hepatomegaly, Hypolysinemia, Splenomegaly, Increased circulating ferritin concentration, Intraalv... OMIM:222700
Vitamin D-Dependent Rickets, Type 2A
Epicanthus, Bowing of the legs, Subperiosteal bone resorption, Femoral bowing, Tibial bowing, Irr... OMIM:277440
Mitochondrial Complex I Deficiency, Nuclear Type 37
Tetraplegia, Opisthotonus, Hypertonia, Bradycardia, Pulmonary arterial hypertension OMIM:619272
Immunodeficiency 16
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia OMIM:615593
Radio-Tartaglia Syndrome
Tremor, Synophrys, Abnormal repetitive mannerisms, Ataxia, Highly arched eyebrow, Tapered finger,... OMIM:619312
Scorpion Envenomation
Bundle branch block, Increased circulating NT-proBNP concentration, Tremor, Prominent U wave, Hyp... ORPHA:466677
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, A... OMIM:601859
Subacute Inflammatory Demyelinating Polyneuropathy
Tremor, Leukocytosis, Choreoathetosis, Steppage gait, Gait disturbance, Difficulty walking, Frequ... ORPHA:206594
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Supernumerary nipple, Highly arched eyebrow, Poliosis, Polyhydramnios, Synophrys, Low anterior ha... OMIM:213980
Bleeding Disorder, Platelet-Type, 16
Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anemia, Impaired platelet aggregat... OMIM:187800
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Hepatomegaly, Hypoglycemia, Hyperammonemia, Hyperuricemia, Myoclonus, Spasticity, Anemia OMIM:246450
Staphylococcal Necrotizing Pneumonia
Shock, Pneumonia, Pneumothorax, Acute infectious pneumonia, Pleural empyema, Pulmonary pneumatoce... ORPHA:36238
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Cryptorchidism, Round face, Flat face, Sparse lateral eyebrow OMIM:619103
Classic Hodgkin Lymphoma
Hepatomegaly, Ataxia, Splenomegaly, Lymphadenopathy, Bone marrow hypocellularity ORPHA:391
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Anemia ORPHA:100024
Gamma-Heavy Chain Disease
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... ORPHA:100026
Ataxia With Vitamin E Deficiency
Hypertriglyceridemia, Ataxia, Dysmetria, Clumsiness, Increased LDL cholesterol concentration, Xan... OMIM:277460
Methanol Poisoning
Myocardial infarction, Cerebral hemorrhage, Inflammatory arteriopathy, Permanent atrial fibrillat... ORPHA:31825
Idiopathic Hypereosinophilic Syndrome
Generalized lymphadenopathy, Cholangitis, Pulmonary embolism, Intracranial hemorrhage, Neutrophil... ORPHA:3260
Mitchell-Riley Syndrome
Absent gallbladder, Diabetes mellitus, Biliary atresia, Cholestasis, Ascites, Acholic stools, Hyp... OMIM:615710
Glycogen Storage Disease Ixc
Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Bile duct proliferation, Cirrhosi... OMIM:613027
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
T lymphocytopenia, Reduced natural killer cell count, Flat face OMIM:242860
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Ataxia, Tremor, Babinski sign, Dysmetria, Gait ataxia, Distal sensory impairment, Hypertonia, Ste... OMIM:616505
Hereditary Coproporphyria
Hyponatremia, Tachycardia, Abnormal circulating porphyrin concentration, Hepatocellular carcinoma... ORPHA:79273
Cystathioninuria
Tremor, Talipes equinovarus, Cystathioninemia ORPHA:212
Sick Sinus Syndrome 2
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... OMIM:163800
17P11.2 Microduplication Syndrome
Speech apraxia, Poor fine motor coordination, Triangular face ORPHA:1713
Polyendocrine-Polyneuropathy Syndrome
Hypoglycemia, Ataxia, Elevated hemoglobin A1c, Dystonia, Type I diabetes mellitus OMIM:616113
Takenouchi-Kosaki Syndrome
Overlapping toe, Ataxia, Proximal placement of thumb, Increased mean platelet volume, Tapered fin... OMIM:616737
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Conjunctival telangiectasia, Elevated circulating creatine kinase concentration, Elevated circula... OMIM:606002
Bone Marrow Failure Syndrome 4
Rhizomelia, Anemia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia OMIM:618116
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Flat face OMIM:109120
Otospondylomegaepiphyseal Dysplasia
Flat face, Polyhydramnios ORPHA:1427
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Exaggerated startle response, Epicanthus, Tremor, Truncal titubation, Dysmetria, Gait ataxia, Hyp... OMIM:618056
Proximal Spinal Muscular Atrophy
Inability to walk, Dysphagia, Tongue fasciculations, Bradycardia, Difficulty walking, Atrial sept... ORPHA:70
Mohr-Tranebjaerg Syndrome
Generalized dystonia, Tremor, Inability to walk, Babinski sign, Mental deterioration, Abnormal py... ORPHA:52368
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Short attention span, Exaggerated startle response, Inability to walk, Chorea, Spastic tetraplegi... OMIM:617864
Coach Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Round face, Ataxia, Portal hypertension, Abnormal ab... OMIM:216360
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Elevated circulating C-reactive protein concentration, Cervical lymphadenopathy, Vasculitis, Decr... OMIM:617718
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Poor fine motor coordination, Sick sinus syndrome, Bradycardia, Prolon... ORPHA:542306
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Coarse facial features, Flat face, Polyhydramnios OMIM:151210
Acute Liver Failure
Shock, Gastrointestinal hemorrhage, Incoordination, Ataxia, Confusion, Hypoglycemia, Jaundice, Sl... ORPHA:90062
Gaucher Disease Type 3
Hepatomegaly, Pancytopenia, Mitral valve calcification, Ataxia, Abnormal heart valve morphology, ... ORPHA:77261
Glutathionuria
Tremor, Dysdiadochokinesis, Action tremor OMIM:231950
Leigh Syndrome
Progressive neurologic deterioration, Chorea, Choreoathetosis, Neutropenia, Ataxia, Athetosis, An... ORPHA:506
Distal Renal Tubular Acidosis
Hyperphosphaturia, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinosis,... ORPHA:18
Pterygia, Impaired Intellectual Development, And Distinctive Craniofacial Features
Flat face, Hypoplastic nipples OMIM:177980
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Anemia, Radioulnar synostosis, Short middle phalanx of the 4th finger, Neutropenia, Overlapping f... OMIM:616738
Pierson Syndrome
Hypertension, Hypoproteinemia, Retinal hemorrhage OMIM:609049
Spinocerebellar Ataxia 8
Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Spasticity OMIM:608768
Aicardi-Goutières Syndrome
Cardiomegaly, Tremor, Abnormal pyramidal sign, Eyelid coloboma, Hypertonia, Extrapyramidal muscul... ORPHA:51
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Hepatomegaly, Pancytopenia, Abnormal lymphocyte count, Portal hypertension, Absence of lymph node... ORPHA:79124
Bernard-Soulier Syndrome
Gastrointestinal hemorrhage, Epistaxis, Impaired ristocetin-induced platelet aggregation, Giant p... OMIM:231200
Dietary Iron Overload Disease
Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Congestive heart fail... ORPHA:139507
Alpha-Mannosidosis, Infantile Form
Pancytopenia, Coarse facial features, Ataxia, Highly arched eyebrow, Spastic paraplegia, Clumsine... ORPHA:309282
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia OMIM:611490
Hereditary Pheochromocytoma-Paraganglioma
Hypercalcemia, Cerebral hemorrhage, Tremor, Congestive heart failure, Vocal cord paralysis, Palpi... ORPHA:29072
Prolidase Deficiency
Hepatomegaly, Splenomegaly, Diffuse telangiectasia, Anemia, Prolonged neonatal jaundice, Thromboc... OMIM:170100
Nephronophthisis 19
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... OMIM:616217
Meconium Aspiration Syndrome
Atelectasis, Pneumothorax, Abnormal heart rate variability, Aspiration pneumonia, Pulmonary arter... ORPHA:70588
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response, Bradycardia, Tongue fasciculations OMIM:608800
Isovaleric Acidemia
Pancytopenia, Cerebellar hemorrhage, Leukopenia, Bone marrow hypocellularity, Lethargy, Thrombocy... OMIM:243500
Kleefstra Syndrome 1
Cryptorchidism, Synophrys, Flat face, Coarse facial features OMIM:610253
Thrombocytopenia, Paris-Trousseau Type
Clinodactyly, Radial deviation of finger, Thrombocytopenia, Ptosis OMIM:188025
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Coarse facial features, Cardiomegaly, Splenomegaly, Synophrys, Coarse hair, Hirsutism OMIM:252920
Peroxisome Biogenesis Disorder 13A (Zellweger)
Hepatomegaly, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Jaundice, Reduced number o... OMIM:614887
T-Cell Immunodeficiency With Thymic Aplasia
Decreased proportion of naive T cells, Aplasia of the thymus, Atypical or prolonged hepatitis, Ly... ORPHA:83471
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Laterally extended eyebrow, Thick eyebrow, Thick hair, Highly arched eyebrow, Cryptorchidism, Syn... OMIM:610759
21Q22.11Q22.12 Microdeletion Syndrome
Short proximal phalanx of the 5th finger, Hyperactivity, Almond-shaped palpebral fissure, Short p... ORPHA:261323
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Decreased hemoglobin concentration, Hepatomegaly, Decreased heart rate variability, Highly arched... OMIM:619005
Autoinflammation With Arthritis And Dyskeratosis
Hepatomegaly, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration,... OMIM:617388
Lissencephaly Due To Lis1 Mutation
Progressive spastic quadriplegia, Neonatal hyperbilirubinemia, Tetraplegia, Opisthotonus ORPHA:95232
Transcobalamin Deficiency
Pancytopenia, Lymphopenia, Thrombocytopenia, Neutropenia ORPHA:859
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Pancytopenia, Generalized lymphadenopathy, Impaired neutrophil chemotaxis, Lymphadenitis, Neutrop... OMIM:618986
Larsen-Like Syndrome
Flat face OMIM:608545
Acute Promyelocytic Leukemia
Pancytopenia, Epistaxis, Anorexia, Diffuse alveolar hemorrhage, Leukocytosis, Lymphadenopathy, An... ORPHA:520
Leukodystrophy, Hypomyelinating, 13
Lower limb spasticity, Exaggerated startle response, Ataxia, Clonus, Irritability, Hypertonia, Sp... OMIM:616881
Japanese Encephalitis
Hyponatremia, Neutrophilia, Weakness due to upper motor neuron dysfunction, Anorexia, Paralysis, ... ORPHA:79139
Pfeiffer Syndrome
Flat face, Facial asymmetry ORPHA:710
Acute Lung Injury
Shock, Pneumonia, Diffuse alveolar hemorrhage, Abnormal pulmonary interstitial morphology, Addict... ORPHA:178320
Schimke Immunoosseous Dysplasia
Waddling gait, Pancytopenia, Transient ischemic attack, Hypoplasia of the capital femoral epiphys... OMIM:242900
Cronkhite-Canada Syndrome
Hepatomegaly, Alopecia, Lymphedema, Splenomegaly, Aplasia/Hypoplasia of the eyebrow, Dystrophic t... ORPHA:2930
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Metaphyseal dysplasia, Hypercalcemia OMIM:614732
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Fructose Intolerance, Hereditary
Gastrointestinal hemorrhage, Hepatomegaly, Hypoglycemia, Jaundice, Bicarbonaturia, Glycosuria, Hy... OMIM:229600
Immunodeficiency 98 With Autoinflammation, X-Linked
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Hemo... OMIM:301078
Felty Syndrome
Hepatomegaly, Pericarditis, Splenomegaly, Lymphadenopathy, Anemia, Bone marrow hypocellularity, N... ORPHA:47612
Poikiloderma With Neutropenia
Elevated circulating creatine kinase concentration, Sparse eyebrow, Splenomegaly, Nasolacrimal du... OMIM:604173
Amyloidosis, Hereditary, Transthyretin-Related
Pulmonary edema, Ataxia, Cardiomegaly, Tremor, Abnormal pyramidal sign, Paraplegia, Limb ataxia, ... OMIM:105210
Bleeding Disorder, Platelet-Type, 20
Epistaxis, Thrombocytopenia OMIM:616913
Ornithine Transcarbamylase Deficiency
Splenomegaly, Hypoglycemia, Hyperammonemia ORPHA:664
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia OMIM:124900
Von Willebrand Disease, Type 2
Epistaxis, Thrombocytopenia OMIM:613554
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Cerebral palsy, Oculogyric crisis, Tremor, Rigidity, Bradykinesia, Dystonia, Limb hypertonia ORPHA:70594
Migraine, Familial Hemiplegic, 2
Tremor, Dysmetria, Gait ataxia, Hemiparesis, Apraxia, Episodic ataxia, Hemiplegia, Cerebral edema OMIM:602481
Diamond-Blackfan Anemia 21
Aortic regurgitation, Hallux valgus, Unilateral ptosis, Sandal gap, Tapered finger, Secundum atri... OMIM:620072
Asbestos Intoxication
Right ventricular failure, Atelectasis, Pleural thickening, Abnormal pulmonary interstitial morph... ORPHA:2302
Giant platelet syndrome with thrombocytopenia
Gastrointestinal hemorrhage, Giant platelets, Thrombocytopenia OMIM:137560
Icf Syndrome
Anemia, Lymphopenia, Flat face, Abnormality of neutrophils ORPHA:2268
Iron Overload, Susceptibility To
Increased circulating ferritin concentration, Elevated transferrin saturation, Elevated circulati... OMIM:620121
Infantile Myofibromatosis
Neoplasm of the pancreas, Hemiplegia/hemiparesis, Abnormal metaphysis morphology, Hypercalcemia ORPHA:2591
Imerslund-Gräsbeck Syndrome
Reticulocytosis, Macrocytic anemia, Pancytopenia, Tachycardia, Megaloblastic anemia, Anisopoikilo... ORPHA:35858
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Cryptorchidism, Triangular face, Abnormal pyramidal sign, Spastic tetraplegia OMIM:615419
Hypouricemia, Renal, 1
Proteinuria, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricosuria, Renal co... OMIM:220150
Mercury Poisoning
Tachycardia, Confusion, Anorexia, Tremor, Hypertension, Hypokalemia, Hypotension, Dystonia ORPHA:330021
Letterer-Siwe Disease
Jaundice, Hepatosplenomegaly, Anemia, Irritability, Neutropenia, Thrombocytopenia OMIM:246400
Glossopharyngeal Neuralgia
Oral-pharyngeal dysphagia, Jaw claudication, Vocal cord paralysis, Depression, Syncope, Bradycardia ORPHA:221098
Gaucher Disease, Type Ii
Hepatomegaly, Progressive neurologic deterioration, Rigidity, Splenomegaly, Anemia, Hypertonia, D... OMIM:230900
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Elevated creatine kinase after exercise, Hypercalcemia ORPHA:284426
Metaphyseal Chondrodysplasia, Jansen Type
Waddling gait, Bowing of the long bones, Hypercalcemia, Metaphyseal chondrodysplasia, Clubbing of... OMIM:156400
Cholestasis, Progressive Familial Intrahepatic, 6
Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Periportal fibrosis OMIM:619484
Roch-Leri Mesosomatous Lipomatosis
Thrombocytopenia ORPHA:529
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Thrombocytopenia OMIM:614493
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abscess, Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, Lymphadenopathy, B ... OMIM:150550
Hyperparathyroidism-Jaw Tumor Syndrome
Renal insufficiency, Polydipsia, Renal hamartoma, Shortened QT interval, Nephrolithiasis, Renal c... ORPHA:99880
Familial Partial Lipodystrophy, Dunnigan Type
Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Splenomegaly, Congestive heart failure, In... ORPHA:2348
Niemann-Pick Disease, Type C2
Hepatomegaly, Dystonia, Ataxia, Fetal ascites, Bone-marrow foam cells, Polyhydramnios, Splenomega... OMIM:607625
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Round face, Flat face, Hirsutism OMIM:224400
C1Q Deficiency 2
Atelectasis, Recurrent lower respiratory tract infections, Bronchiectasis, Vasculitis in the skin OMIM:620321
Lipodystrophy, Familial Partial, Type 7
Orthostatic hypotension, Spontaneous pneumothorax, Polyuria, Pulmonary arteriovenous malformation... OMIM:606721
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Hepatomegaly, Pancytopenia, Myocardial necrosis, Metaphyseal sclerosis, M... OMIM:260400
16P11.2P12.2 Microdeletion Syndrome
Long face, Flat face, Impaired pain sensation ORPHA:261211
Pheochromocytoma--Islet Cell Tumor Syndrome
Tachycardia, Hypercalcemia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension,... OMIM:171420
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Good Syndrome
Abnormal leukocyte morphology, Diabetes mellitus, Mediastinal lymphadenopathy, Thymoma, Fatigable... ORPHA:169105
Brain-Lung-Thyroid Syndrome
Recurrent respiratory infections, Hyperactivity, Hypospadias, Abnormal eating behavior, Recurrent... ORPHA:209905
Proteasome-Associated Autoinflammatory Syndrome 1
Hallux valgus, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Impai... OMIM:256040
Distal Duplication 5Q
Cryptorchidism, Flat face, Aplasia/Hypoplasia of the gallbladder ORPHA:96097
Sialidosis Type 1
Coarse facial features, Ataxia, Tremor, Splenomegaly, Slurred speech, Gait disturbance, Myoclonus ORPHA:812
Spastic Tetraplegia And Axial Hypotonia, Progressive
Lower limb spasticity, Exaggerated startle response, Overlapping toe, Ataxia, Spastic tetraparesi... OMIM:618598
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Bradycardia, Absent ossification of capital femoral epiphysis, Prolonged neonatal jaundice ORPHA:226313
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... OMIM:616117
Gerstmann-Straussler Disease
Parkinsonism, Aggressive behavior, Tremor, Rigidity, Limb ataxia, Gait ataxia, Depression, Bradyk... OMIM:137440
Nicolaides-Baraitser Syndrome
Alopecia, Curly eyelashes, Abnormal hair pattern, Highly arched eyebrow, Cryptorchidism, Long eye... ORPHA:3051
Slc39A8-Cdg
Inability to walk, Abnormality of the liver, Flat face, Dystonia ORPHA:468699
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Microvesicular hepatic steatosis, Chorea, Hypotriglyceridemia, Hepatomegaly, Lagophthalmos, Micro... ORPHA:404454
Perry Syndrome
Parkinsonism, Akinesia, Tremor, Frontotemporal dementia, Rigidity, Depression, Bradykinesia, Inap... OMIM:168605
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Short attention span, Exaggerated startle response, Broad-based gait, Ataxia, Epicanthus, Telecan... ORPHA:438216
Triosephosphate Isomerase Deficiency
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Tremor, Splenomegaly, Congestive heart fa... OMIM:615512
Progressive Non-Infectious Anterior Vertebral Fusion
Round face, Abnormal facial shape, Abdominal situs inversus, Flat face ORPHA:2062
Osteopetrosis, Autosomal Recessive 2
Pancytopenia, Extramedullary hematopoiesis, Diaphyseal sclerosis, Hepatosplenomegaly, Anemia, Gen... OMIM:259710
Johanson-Blizzard Syndrome
Hepatomegaly, Absent lacrimal punctum, Diabetes mellitus, Atrial septal defect, Ventricular septa... OMIM:243800
Parathyroid Carcinoma
Renal insufficiency, Polydipsia, Renal hamartoma, Shortened QT interval, Nephrolithiasis, Renal c... ORPHA:143
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Epicanthus, Microcytic anemia, Short toe, Downslanted palpebral fissures, Talipes equinovarus, Hb... ORPHA:98791
X-Linked Intellectual Disability, Golabi-Ito-Hall Type
Dry hair, Brittle hair, Narrow face, Spastic diplegia, Nail dystrophy, Spasticity, Triangular fac... ORPHA:93947
Nabais Sa-De Vries Syndrome, Type 2
Polyhydramnios, Sparse eyebrow, Chorea, Hemiparesis, Dystonia, Triangular face OMIM:618829
Dopamine Beta-Hydroxylase Deficiency
Abnormal EKG, Orthostatic hypotension, Hypoglycemia, Bilateral ptosis, Insulin resistance, Elevat... ORPHA:230
Congenital Myopathy 19
Cryptorchidism, Gait disturbance, Triangular face OMIM:618578
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Myocardial infarction, Tremor, Depression, Hyperkinetic movements, Gait disturbance, Upper limb s... ORPHA:457240
Kaposiform Lymphangiomatosis
Epidural hemorrhage, Epistaxis, Abnormal humerus morphology, Pancreatic cysts, Splenomegaly, Peri... ORPHA:464329
Wolfram Syndrome
Gastrointestinal hemorrhage, Recurrent urinary tract infections, Dysuria, Cardiomyopathy, Abnorma... ORPHA:3463
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Renal agenesis, H... ORPHA:93111
Chanarin-Dorfman Syndrome
Hepatomegaly, Alopecia, Hepatic steatosis, Ataxia OMIM:275630
Multifocal Atrial Tachycardia
Atrial septal defect, Atrial flutter, Tachycardia, Atrial fibrillation, Ventricular septal defect... ORPHA:3282
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Incoordination, Ataxia, Tremor, Cryptorchidism, Abnormal pyramidal sign, Eyelid myoclonus, Oculom... OMIM:618060
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... OMIM:600858
Dyssegmental Dysplasia, Silverman-Handmaker Type
Cryptorchidism, Flat face OMIM:224410
Neurodegeneration With Brain Iron Accumulation 5
Parkinsonism, Akinesia, Aggressive behavior, Tremor, Rigidity, Bradykinesia, Dementia, Dystonia, ... OMIM:300894
Bleeding Disorder, Platelet-Type, 24
Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat... OMIM:619271
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatomegaly, Alopecia, Sparse eyelashes, Thick hair, Portal hypertension, Sparse eyebrow, Spleno... OMIM:607626
Hyperlysinemia
Short attention span, Hyperactivity, Neck hypertonia, Poor motor coordination, Spastic tetrapares... ORPHA:2203
Anemia, Sideroblastic, 5
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia OMIM:619523
Charge Syndrome
Secundum atrial septal defect, Hand monodactyly, Hypocalcemia, Atrial septal defect, Aplasia/Hypo... OMIM:214800
Leukodystrophy, Hypomyelinating, 10
Inability to walk, Babinski sign, Prominent eyelashes, Hyperkinetic movements, Spasticity, Triang... OMIM:616420
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Synophrys, Thick eyebrow, Flat face, Highly arched eyebrow OMIM:614701
Desbuquois Dysplasia 2
Round face, Synophrys, Flat face, Coarse facial features OMIM:615777
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pancytopenia, Autoimmune hemolytic anemia, Generalized lymphadenopathy, Chronic neutropenia, Auto... OMIM:614700
Lymphoproliferative Syndrome 2
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, H... OMIM:615122
Mogs-Cdg
Hepatomegaly, Alopecia, Pulmonary edema, Edema, Cardiomegaly, Polyhydramnios, Hirsutism, Hepatosp... ORPHA:79330
Autosomal Dominant Kenny-Caffey Syndrome
Stenosis of the medullary cavity of the long bones, Cortical thickening of long bone diaphyses, H... ORPHA:93325
Thymic Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Hypercalcemia, Pancreatic islet cell adenoma, Neoplasm of ... ORPHA:97289
Dk Phocomelia Syndrome
Thrombocytopenia OMIM:223340
Sandhoff Disease, Infantile Form
Exaggerated startle response, Hepatosplenomegaly, Mitral valve prolapse, Mitral regurgitation, My... ORPHA:309155
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Hypoglycemia, Delayed proximal femoral epiphyseal ossification, Hand polydactyly, Bradycardia, Sh... ORPHA:226307
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11
Triangular face, Facial asymmetry ORPHA:231147
Fibrous Dysplasia Of Bone
Abnormal morphology of the radius, Bowing of the long bones, Antalgic gait, Diabetes mellitus, Ab... ORPHA:249
Pseudo-Torch Syndrome 1
Hepatomegaly, Splenomegaly, Jaundice, Dystonia, Spasticity, Patent foramen ovale, Thrombocytopenia OMIM:251290
Pediatric Systemic Lupus Erythematosus
Raynaud phenomenon, Pericardial effusion, Lymphadenopathy, Leukopenia, Ascites, Microangiopathic ... ORPHA:93552
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication
Fine hair, Long eyelashes, High anterior hairline, Triangular face, Facial asymmetry ORPHA:231137
Pseudo-Von Willebrand Disease
Intermittent thrombocytopenia OMIM:177820
Hyperparathyroidism 4
Hypercalcemia OMIM:617343
Cockayne Syndrome Type 1
Hepatomegaly, Lower limb spasticity, Ataxia, Tremor, Hypertension, Gait disturbance, Conjunctivit... ORPHA:90321
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Elevated hepatic transaminase, Hepatomegaly, Waddling gait, Chorea, Difficulty walking, Truncal a... ORPHA:369840
Joubert Syndrome With Hepatic Defect
Elevated hepatic transaminase, Hepatomegaly, Ataxia, Portal hypertension, Highly arched eyebrow, ... ORPHA:1454
Adams-Oliver Syndrome
Gastrointestinal hemorrhage, Finger syndactyly, Brachydactyly, Abnormal pulmonary valve morpholog... ORPHA:974
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Abnormality of the spleen, Hypertonia, Hepatic fibrosis, Bacterial endocarditis, Paralysis, Hepat... ORPHA:2072
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Coarse hair, Flat face, Thrombocytopenia OMIM:612394
Robinow-Sorauf Syndrome
Flat face OMIM:180750
Asparagine Synthetase Deficiency
Exaggerated startle response, Clonus, Tremor, Spastic tetraplegia, Irritability, Large hands, Hyp... OMIM:615574
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Extramedullary hematopoiesis, Epistaxis, Abnormality of thrombocytes, Splenomegaly,... OMIM:612840
Systemic-Onset Juvenile Idiopathic Arthritis
Hepatomegaly, Splenomegaly, Lymphadenopathy, Joint swelling, Pleural effusion ORPHA:85414
Short Stature, Brussels Type
Abnormal facial shape, Triangular face ORPHA:2867
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Tremor, Dysmetria, Depression, Progressive cerebellar ataxia, Dysdiadochokinesis, Difficulty walk... ORPHA:502423
Otopalatodigital Syndrome, Type I
Flat face, Nail dystrophy OMIM:311300
Dystonia 1, Torsion, Autosomal Dominant
Torticollis, Generalized dystonia, Writer's cramp, Tremor, Inability to walk, Babinski sign, Tors... OMIM:128100
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Waddling gait, Hepatomegaly, Speech apraxia, Ataxia, Elevated circulating creatine kinase concent... OMIM:615356
Achondrogenesis, Type Ia
Increased nuchal translucency, Flat face, Hydrops fetalis, Polyhydramnios OMIM:200600
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Hepatomegaly, Ataxia, Postural tremor, Tapered finger, Splenomegaly, Micronodular cirrhosis, Babi... OMIM:301072
Scheie Syndrome
Hepatomegaly, Coarse facial features, Cerebral palsy, Splenomegaly, Spastic paraparesis ORPHA:93474
Tyrosinemia, Type I
Gastrointestinal hemorrhage, Hypertyrosinemia, Hepatomegaly, Hypoglycemia, Elevated circulating a... OMIM:276700
Braddock-Carey Syndrome 2
Clinodactyly, Downslanted palpebral fissures, Thrombocytopenia OMIM:619981
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Round face, Incoordination, Ataxia, Cryptorchidism, Low anterior hairline, Frontal upsweep of hai... ORPHA:369891
Hypocomplementemic Urticarial Vasculitis
Hepatomegaly, Cerebral palsy, Ataxia, Pericardial effusion, Splenomegaly, Hemiplegia/hemiparesis,... ORPHA:36412
Pituitary Hormone Deficiency, Combined, 6
Neonatal hypoglycemia, Hypoglycemia, Hyperbilirubinemia OMIM:613986
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Panhypophysitis
Orthostatic hypotension, Hyposthenuria, Polydipsia ORPHA:95513
Marshall Syndrome
Sparse hair, Sparse eyelashes, Flat face, Sparse eyebrow ORPHA:560
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Cardiomegaly, Low posterior hairline, Left ventricular hypertrophy, Small face, Flat face, Thick ... OMIM:245600
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eosinophilia, Autoimmune thrombocytopenia, Hepatitis, Lymphadenopathy, Anemia, Coombs-positive he... OMIM:304790
Tetrasomy 5P
Coarse facial features, Flat face ORPHA:3309
Lymphatic Malformation 6
Genital edema, Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Splenomegaly, Polyhydr... OMIM:616843
Sialuria
Hepatomegaly, Coarse facial features, Splenomegaly, Synophrys, Low posterior hairline, Poor fine ... OMIM:269921
Smith-Kingsmore Syndrome
Rhizomelia, Hypoglycemia, Short proximal phalanx of finger, Downslanted palpebral fissures, Throm... OMIM:616638
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Hepatomegaly, Epicanthus, Hypertriglyceridemia, Hypoglycemia, Ventricular septa... OMIM:619418
Slc35A1-Cdg
Giant platelets, Neutropenia, Abnormal platelet granules, Thrombocytopenia, Pulmonary hemorrhage ORPHA:238459
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Exaggerated startle response, Broad-based gait, Bicuspid aortic valve, Involuntary movements, Dec... ORPHA:438213
Platelet Glycoprotein Iv Deficiency
Giant platelets, Thrombocytopenia OMIM:608404
Fibrochondrogenesis 1
Flat face, Hydrops fetalis OMIM:228520
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Pancreatic fibrosis, Malformation of the hepatic ductal plate, Portal hypertension,... OMIM:208540
Bleeding Disorder, Platelet-Type, 15
Thrombocytopenia, Epistaxis, Platelet anisocytosis, Increased mean platelet volume OMIM:615193
Mucopolysaccharidosis, Type Iiia
Hepatomegaly, Coarse facial features, Splenomegaly, Synophrys, Coarse hair, Hirsutism OMIM:252900
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Dysdiadochokinesis, Dystonia, Sp... OMIM:614381
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... OMIM:617300
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Brittle hair, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Progressive hypotric... OMIM:225060
Q Fever
Hepatomegaly, Pericarditis, Abnormal heart valve morphology, Anorexia, Pericardial effusion, Sple... ORPHA:781
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Hypertonia, Methemoglobinemia, Polycythemia, Opisthotonus OMIM:250800
Bohring-Opitz Syndrome
Cardiomegaly, Inability to walk, Synophrys, Lower limb hypertonia, Abnormal cardiac septum morpho... ORPHA:97297
Primary Familial Polycythemia
Epistaxis, Polycythemia, Abnormal hemoglobin ORPHA:90042
Noonan Syndrome 4
Epicanthus, Ventricular septal defect, Sparse eyebrow, Bilateral ptosis, Pulmonic stenosis, Atria... OMIM:610733
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia ORPHA:494444
Severe Generalized Junctional Epidermolysis Bullosa
Abnormal fingertip morphology, Dilated cardiomyopathy, Abnormal blood ion concentration, Bradycar... ORPHA:79404
Sialuria
Elevated hepatic transaminase, Hepatomegaly, Coarse facial features, Hepatosplenomegaly, Hyperkin... ORPHA:3166
Young-Onset Parkinson Disease
Restless legs, Short attention span, Impulsivity, Tremor, Rigidity, Depression, Bradykinesia, Fro... ORPHA:2828
Uremic Pruritus
Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia, Depression, Increased blood urea nitrogen ORPHA:94059
Alternating Hemiplegia Of Childhood
Anorexia, Oral-pharyngeal dysphagia, Tremor, Progressive neurologic deterioration, Chorea, Abnorm... ORPHA:2131
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Hypoplasia of the ulna, Polycystic liver disease, Pancreatic fibrosis, Conjugated hyperbilirubine... OMIM:208500
Systemic Lupus Erythematosus
Hemolytic anemia, Thrombocytopenia, Pericarditis, Leukopenia OMIM:152700
Microscopic Polyangiitis
Gastrointestinal hemorrhage, Glomerulopathy, Renal insufficiency, Pericarditis, Epistaxis, Conges... ORPHA:727
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Tremor, Dysmetria, Gait ataxia, Difficulty walking, Oculomotor apraxia, Spasticity ORPHA:529665
Progressive Familial Heart Block, Type Ib
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... OMIM:604559
Myoectodermal Gonadal Dysgenesis Syndrome
Accessory spleen, Highly arched eyebrow, Sparse eyebrow, Sparse pubic hair, Frontal upsweep of ha... OMIM:618419
Infantile Nephropathic Cystinosis
Hyperphosphaturia, Abnormal tubulointerstitial morphology, Renal tubular dysfunction, Glycosuria,... ORPHA:411629
Omenn Syndrome
Hepatomegaly, Alopecia, Eosinophilia, Edema, Splenomegaly, Leukocytosis, Lymphadenopathy, Aplasia... ORPHA:39041
Waldenström Macroglobulinemia
Normocytic anemia, Gastrointestinal hemorrhage, Hepatomegaly, Ataxia, Epistaxis, Abnormality of n... ORPHA:33226
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Cryptorchidism, Round face, Ataxia, Triangular face OMIM:616789
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration... OMIM:207750
Farber Lipogranulomatosis
Osteolysis involving bones of the feet, Hyperextensibility of the finger joints, Hepatomegaly, Sp... OMIM:228000
Immunodeficiency 7
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Patc... OMIM:615387
Immunodeficiency With Hyper-Igm, Type 1
Hemolytic anemia, Hepatomegaly, Absence of lymph node germinal center, Splenomegaly, Enlarged ton... OMIM:308230
Schwartz-Jampel Syndrome
Decreased testicular size, Abnormal eyebrow morphology, Polyhydramnios, Low anterior hairline, Bl... ORPHA:800
Fish-Eye Disease
Decreased HDL cholesterol concentration, Hepatomegaly, Angina pectoris, Splenomegaly, Lymphadenop... ORPHA:79292
Alpha-1-Antitrypsin Deficiency
Hepatomegaly, Jaundice, Hepatic failure, Hepatitis ORPHA:60
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Micromelia, Progressive neurologic deterioration, Preaxial polydactyly, Femoral bowing, Atrial se... OMIM:210710
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Flat face ORPHA:2001
Congenital Disorder Of Glycosylation, Type Iig
Rhizomelia, Broad femoral neck, Giant platelets, Small hand, Hypoplasia of the capital femoral ep... OMIM:611209
Fibular Hemimelia
Bowing of the legs, Tibial bowing, Foot oligodactyly, Short tibia, Finger syndactyly, Abnormal mo... ORPHA:93323
Lig4 Syndrome
Pancytopenia, Epicanthus, Telangiectasia, Acute lymphoblastic leukemia, Upslanted palpebral fissu... OMIM:606593
Jaberi-Elahi Syndrome
Appendicular spasticity, Broad-based gait, Brittle hair, Sparse eyelashes, Sparse eyebrow, Tremor... OMIM:617988
Combined Oxidative Phosphorylation Deficiency 3
Hyponatremia, Hepatomegaly, Ataxia, Elevated circulating creatine kinase concentration, Tremor, D... OMIM:610505
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Dystonia 2, Torsion, Autosomal Recessive
Tremor, Torticollis, Blepharospasm, Torsion dystonia OMIM:224500
Paget Disease Of Bone 2, Early-Onset
Bowing of the long bones, Short femur, Hypercalcemia, Paraparesis, Femoral bowing, Tetraparesis, ... OMIM:602080
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Cerebral palsy, Abnormal circulating biopterin concentration, Oculogyric crisis, Maturity-onset d... ORPHA:1578
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Arthrogryposis, Distal, Type 2B3
Triangular face OMIM:618436
Familial Short Qt Syndrome
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... ORPHA:51083
Budd-Chiari Syndrome
Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Portal hypertension, Splenome... ORPHA:131
Spondyloepiphyseal Dysplasia Congenita
Waddling gait, Coarse facial features, Flat face ORPHA:94068
Williams Syndrome
Bicuspid aortic valve, Elevated circulating creatine kinase concentration, Myocardial infarction,... ORPHA:904
Hypothyroidism, Congenital, Nongoitrous, 2
Lethargy, Increased circulating thyroglobulin level, Bradycardia, Hyperbilirubinemia OMIM:218700
Wolman Disease
Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Hepatic failure, Ascites, Anemia ORPHA:75233
Farber Disease
Intrahepatic cholestasis with episodic jaundice, Paraparesis, Short toe, Hepatosplenomegaly, Anem... ORPHA:333
Glutaric Acidemia I
Hepatomegaly, Hypoglycemia, Rigidity, Spastic diplegia, Opisthotonus, Choreoathetosis, Dystonia, ... OMIM:231670
Porphyria Variegata
Hyponatremia, Tachycardia, Abnormal circulating porphyrin concentration, Hypertension, Abnormalit... ORPHA:79473
Chromosome 15Q26-Qter Deletion Syndrome
Cryptorchidism, Triangular face OMIM:612626
Hoyeraal-Hreidarsson Syndrome
Abnormal leukocyte morphology, Ataxia, Anemia, Hypertonia, Bone marrow hypocellularity, Thrombocy... ORPHA:3322
Hyperparathyroidism 2 With Jaw Tumors
Pancreatic adenocarcinoma, Recurrent pancreatitis, Hypercalcemia OMIM:145001
Carnitine-Acylcarnitine Translocase Deficiency
Dicarboxylic aciduria, Ventricular tachycardia, Oliguria, Cardiomyopathy, Hypotension, Arrhythmia ORPHA:159
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Abnormal hemoglobin, Cryptorchidism, Spastic paraplegia, Flat face, Anemia ORPHA:847
X-Linked Intellectual Disability-Hypotonia-Facial Dysmorphism-Aggressive Behavior Syndrome
Abnormal facial shape, Gait disturbance, Triangular face, Long face ORPHA:85329
Erythrocytosis, Familial, 2
Cerebral hemorrhage, Increased hemoglobin, Increased red blood cell mass, Increased hematocrit, H... OMIM:263400
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis OMIM:224100
Adult-Onset Autosomal Dominant Leukodystrophy
Clonus, Tremor, Abnormal pyramidal sign, Impaired proprioception, Dysmetria, Gait ataxia, Hyperto... ORPHA:99027
Congenital Disorder Of Glycosylation, Type Iie
Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase concentration, Secundum atrial s... OMIM:608779
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Methylmalonic acidemia, Short humerus, Hepatomegaly, Short femur, Short attention span, Hypoglyce... ORPHA:17
Sarcoidosis
Hemolytic anemia, Abnormal cardiac ventricular function, Hepatomegaly, Eosinophilia, Portal hyper... ORPHA:797
Alazami Syndrome
Retractile testis, Triangular face OMIM:615071
Porphyria, Congenital Erythropoietic
Hemolytic anemia, Hepatomegaly, Absent eyebrow, Splenomegaly, Jaundice, Loss of eyelashes, Conjun... OMIM:263700
Malignant Hyperthermia, Susceptibility To, 1
Tachycardia, Elevated circulating creatine kinase concentration, Rigidity, Hyperkalemia, Hyperpho... OMIM:145600
Glycogen Storage Disease Ib
Hepatomegaly, Pancreatic fibrosis, Hypoglycemia, Hepatocellular carcinoma, Splenomegaly, Hyperlip... OMIM:232220
Genetic Hyperferritinemia Without Iron Overload
Increased circulating ferritin concentration, Abnormal serum iron concentration, Abnormal transfe... ORPHA:254704
Mitochondrial Complex I Deficiency, Nuclear Type 20
Hypoglycemia, Congestive heart failure, Microvesicular hepatic steatosis, Dilated cardiomyopathy,... OMIM:611126
Wiedemann-Steiner Syndrome
Round face, Synophrys, Flat face, Long eyelashes, Congenital, generalized hypertrichosis, General... ORPHA:319182
Short Stature, Microcephaly, And Endocrine Dysfunction
Broad-based gait, Ataxia, Cryptorchidism, Dysmetria, Dysdiadochokinesis, Gait disturbance, Apraxi... OMIM:616541
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Inability to walk, Exaggerated startle response, Depression OMIM:620114
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Heart block, Elev... ORPHA:228308
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Sparse hair, Flat face OMIM:615349
Peroxisome Biogenesis Disorder 11A (Zellweger)
Elevated hepatic transaminase, Triangular face, Decreased liver function, Large face OMIM:614883
Distal Deletion 12Q
Coarse facial features, Unilateral cryptorchidism, Impaired pain sensation, Biliary atresia, Fine... ORPHA:96149
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Splenom... OMIM:619375
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Noncompaction cardiomyopathy, Short metacarpal, Tricuspid regurgitation, Short humerus, Thrombocy... ORPHA:508542
Cardiomyopathy, Dilated, 1A
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, P... OMIM:115200
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, A... ORPHA:280365
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinoph... ORPHA:331206
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Thrombocytopenia, Downslanted palpebral fissures, Spastic diplegia, Increased mean platelet volume OMIM:300048
3-Hydroxyisobutyric Aciduria
Triangular face ORPHA:939
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Ataxia, Cardiomegaly, Congestive heart failure, Unsteady gait, Babinski sign, Limb ataxia, Gait a... OMIM:619259
Perry Syndrome
Parkinsonism, Tremor, Depression, Dementia, Abnormality of extrapyramidal motor function, Hypoten... ORPHA:178509
Syndromic Diarrhea
Aortic regurgitation, Hepatomegaly, Atrial septal defect, Bicuspid aortic valve, Ventricular sept... ORPHA:84064
Gm1-Gangliosidosis, Type I
Hepatomegaly, Coarse facial features, Splenomegaly, Vacuolated lymphocytes, Hydrops fetalis, Hype... OMIM:230500
Spondyloepiphyseal Dysplasia Congenita
Waddling gait, Flat face OMIM:183900
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Epicanthus, Aplasia of the thymus, Broad hallux, Sparse eyebrow, Patent foramen ovale, Lacrimal d... OMIM:620186
Immunodeficiency 11A
Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells OMIM:615206
Trichohepatoenteric Syndrome 2
Hepatomegaly, Brittle hair, Chronic hepatitis, Uncombable hair, Cirrhosis, Sparse hair, Woolly ha... OMIM:614602
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Potter facies, Dehydration, Pe... OMIM:263200
Elliptocytosis 3
Pyropoikilocytosis, Intermittent jaundice, Decreased mean corpuscular volume, Elliptocytosis, Chr... OMIM:617948
Zttk Syndrome
Aortic regurgitation, Unilateral lung agenesis, Polyuria, Unilateral renal agenesis, Horseshoe ki... OMIM:617140
Hermansky-Pudlak Syndrome 2
Hepatomegaly, Absent platelet dense granules, Epicanthus, Decreased CD4:CD8 ratio, Splenomegaly, ... OMIM:608233
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response, Elevated circulating creatine kinase concentration, Dilated cardiom... OMIM:253800
Acute Intermittent Porphyria
Hyponatremia, Restlessness, Tachycardia, Confusion, Tremor, Depression, Hypertension, Pseudobulba... ORPHA:79276
Bronchogenic Cyst
Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Atelectasis, Dysphagia, Bronchogenic cyst ORPHA:2357
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Inability to walk, Spasticity, Hypertonia, Triangular face OMIM:616801
Mucopolysaccharidosis Type 3
Progressive neurologic deterioration, Adenoiditis, Cardiomegaly, Synophrys, Abnormal pyramidal si... ORPHA:581
Lassa Fever
Shock, Oliguria, Dysphagia ORPHA:99824
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development
Cryptorchidism, Breast hypoplasia, Long eyelashes, Absent axillary hair, Flat face OMIM:601353
Myh9-Related Disease
Spontaneous, recurrent epistaxis, Increased mean platelet volume, Myocardial infarction, Giant pl... ORPHA:182050
Legius Syndrome
Triangular face, Low posterior hairline OMIM:611431
Skin Creases, Congenital Symmetric Circumferential, 1
Flat face, Hypoplastic nipples OMIM:156610
Intellectual Developmental Disorder, Autosomal Recessive 54
Emotional lability, Exaggerated startle response, Attention deficit hyperactivity disorder OMIM:617028
Thyrotoxic Periodic Paralysis
Prolonged QT interval, Episodic hypokalemia, Transient hypophosphatemia, Paralysis, Tremor, Short... ORPHA:79102
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Ataxia, Inability to walk, Abnormal facial shape, Difficulty walking, Spasticity, Triangular face... ORPHA:481152
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Epistaxis, Increased mean platelet volume, Impaired ristocetin-induced platelet... OMIM:153670
Proteasome-Associated Autoinflammatory Syndrome 4
Hepatomegaly, Autoimmune hemolytic anemia, Edema, Splenomegaly, Lymphadenopathy OMIM:619183
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Triangular face, Aplasia/Hypoplasia of the pancreas ORPHA:65288
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Splenomegaly, Hepatomegaly, Hypopigmentation of hair, Polyhydramnios OMIM:618541
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia OMIM:617441
Mannosidosis, Alpha B, Lysosomal
Hepatomegaly, Coarse facial features, Splenomegaly, Vacuolated lymphocytes, Low anterior hairline... OMIM:248500
Combined Oxidative Phosphorylation Deficiency 39
Involuntary movements, Babinski sign, Sinus bradycardia, Ankle clonus, Dystonia, Type I diabetes ... OMIM:618397
Thrombocythemia 1
Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre... OMIM:187950
Boutonneuse Fever
Cervical lymphadenopathy, Vasculitis, Lymphadenopathy, Leukopenia, Thrombocytopenia ORPHA:83313
Aymé-Gripp Syndrome
Sparse scalp hair, Asymmetric crying face, Pericardial effusion, Cryptorchidism, Flat face, Long ... ORPHA:1272
Osteopathia Striata-Cranial Sclerosis Syndrome
Flat face ORPHA:2780
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Granulomatous cholangitis, Cholestasis, Abnormal intrahepatic bile duct morphology, Sclerosing ch... ORPHA:562639
Pituitary Apoplexy
Hyponatremia, Hypoglycemia, Confusion, Hypertension, Normochromic anemia, Increased circulating c... ORPHA:95613
Spondylodysplastic Ehlers-Danlos Syndrome
Sparse scalp hair, Hemifacial hypoplasia, Lymphedema, Cryptorchidism, Flat face, Abnormal facial ... ORPHA:536471
Neurodegeneration And Seizures Due To Copper Transport Defect
Tricuspid regurgitation, Short femur, Cardiomegaly, Abnormal circulating ceruloplasmin concentrat... OMIM:620306
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Gait disturbance, Triangular face, Polyhydramnios ORPHA:2774
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Tremor, Vocal cord paralysis, Mildly elevated creatine kinase, Dysphagia ORPHA:397744
Glutaryl-Coa Dehydrogenase Deficiency
Limb dystonia, Ataxia, Poor motor coordination, Tremor, Rigidity, Chorea, Subdural hemorrhage, Re... ORPHA:25
Lathosterolosis
Hepatomegaly, Epicanthus, Toe syndactyly, Intrahepatic cholestasis, Postaxial hand polydactyly, A... ORPHA:46059
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypercalcemia, Hypermagnesemia, Depression, Hypophosphatemia, Pancreatitis OMIM:600740
Lipodystrophy, Congenital Generalized, Type 2
Hepatic steatosis, Hepatomegaly, Hypertriglyceridemia, Acute pancreatitis, Elevated hemoglobin A1... OMIM:269700
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic... ORPHA:67044
Kbg Syndrome
Round face, Abnormal hair pattern, Cryptorchidism, Synophrys, Triangular face, Thick eyebrow ORPHA:2332
Mucopolysaccharidosis, Type Iiic
Hepatomegaly, Coarse facial features, Splenomegaly, Synophrys, Coarse hair, Hirsutism, Hypertrich... OMIM:252930
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypoglycemic seizures, Hepatic steatosis, Hepatomegaly, Cognitive impairment, Anemia, Hypoglycemi... ORPHA:79259
Tufted Angioma
Anemia, Thrombocytopenia ORPHA:1063
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Bilateral vocal cord paresis, Tachycardia, Ventricular septal defect, Retinal hemorrhage, Hyperte... OMIM:614653
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Tachycardia, Hypoglycemia, Elevated circulating creatine kinase concentration, Sudd... OMIM:614921
Serotonin Syndrome
Restlessness, Tachycardia, Confusion, Clonus, Tremor, Rigidity, Hypertension, Irritability, Hyper... ORPHA:43116
Wiskott-Aldrich Syndrome
Abnormal eosinophil morphology, Microcytic anemia, Intracranial hemorrhage, Hypoplasia of the thy... ORPHA:906
Erythrocytosis, Familial, 4
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:611783
Huntington Disease
Aggressive behavior, Oral-pharyngeal dysphagia, Addictive alcohol use, Agitation, Compulsive beha... ORPHA:399
Fanconi Anemia, Complementation Group D2
Pancytopenia, Absent thumb, Absent radius, Short thumb, Preaxial hand polydactyly, Partial duplic... OMIM:227646
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hepatomegaly, Transient ischemic attack, Elevated circulating creatine kinase concentration, Card... ORPHA:365
Gray Platelet Syndrome
Impaired thrombin-induced platelet aggregation, Epistaxis, Abnormal number of alpha granules, Spl... OMIM:139090
Dysostosis, Stanescu Type
Flat face ORPHA:1798
Larsen Syndrome
Cryptorchidism, Flat face, Short nail ORPHA:503
Ebola Hemorrhagic Fever
Gastrointestinal hemorrhage, Acute pancreatitis, Hepatitis, Melena, Leukopenia, Dysphagia, Lethar... ORPHA:319218
Cocaine Intoxication
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Elevated circulating creatine kinase c... ORPHA:90068
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Neurooculorenal Syndrome
Decreased circulating cortisol level, Dextrocardia, Short hallux, Highly arched eyebrow, Conjugat... OMIM:620305
Chromosome 3Pter-P25 Deletion Syndrome
Highly arched eyebrow, Cryptorchidism, Synophrys, Spasticity, Triangular face OMIM:613792
Idiopathic Aplastic Anemia
Pancytopenia, Epistaxis, Reticulocytopenia, Retinal hemorrhage, Anemia, Bone marrow hypocellulari... ORPHA:88
Thrombocytopenia-Absent Radius Syndrome
Femoral bowing, Clinodactyly of the 5th finger, Atrial septal defect, Atrioventricular canal defe... OMIM:274000
Abnormal Hair, Joint Laxity, And Developmental Delay
Short fourth metatarsal, Tricuspid regurgitation, Short fifth metatarsal, Impulsivity, Aggressive... OMIM:261990
Thrombocytopenia 4
Abnormal platelet volume, Thrombocytopenia OMIM:612004
Arthrogryposis, Distal, Type 2B2
Triangular face OMIM:618435
Cyclic Neutropenia
Cyclic neutropenia, Perianal abscess, Cervical lymphadenopathy, Peritonitis, Recurrent tonsilliti... ORPHA:2686
Oculopharyngodistal Myopathy 1
Paroxysmal atrial fibrillation, Ataxia, Elevated circulating creatine kinase concentration, Tremo... OMIM:164310
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Acute hepatic failure, Hepatocellular carcinoma, Microvesicular hepatic steatosis, Hepatocellular... OMIM:256810
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Diabetes mellitus, Hypocalcemia, Hypocalcemic seizures, Abnormal heart morphology ORPHA:2237
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypertriglyceridemia, Hypercalcemia, Upper limb undergrowth, Abnormal heart morphology, Upslanted... ORPHA:369837
Tempi Syndrome
Telangiectasia, Intracranial hemorrhage, Increased hematocrit, Ascites, Polycythemia ORPHA:284227
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Thrombocytopenia OMIM:314000
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Anuria, Megacystis, Pyelonephritis, Bidirectional shunt, Elevated pulmonary artery pressure, Feta... OMIM:619351
Fucosidosis
Hepatomegaly, Coarse facial features, Cardiomegaly, Abnormality of the gallbladder, Abnormal pyra... ORPHA:349
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Short attention span, Hyperactivity, Broad-based gait, Ataxia, Abnormal eating behavior, Tremor, ... ORPHA:98794
Gm1 Gangliosidosis Type 1
Exaggerated startle response, Hepatosplenomegaly, Cardiomyopathy, Abnormality of extrapyramidal m... ORPHA:79255
Stevens-Johnson Syndrome
Gastrointestinal hemorrhage, Entropion, Sudden cardiac death, Myocardial infarction, Abnormality ... ORPHA:36426
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Tremor, Tachycardia, Hypokalemia, Periodic paralysis OMIM:613239
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response, Inability to walk, Babinski sign, Spastic paraplegia, Ankle clonus OMIM:609541
12Q14 Microdeletion Syndrome
Tremor, Abnormality of the spleen, Synophrys, Triangular face, Thick eyebrow ORPHA:94063
Erythrocytosis, Familial, 5
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617907
Multicentric Carpotarsal Osteolysis Syndrome
Inability to walk, Triangular face OMIM:166300
Septo-Optic Dysplasia Spectrum
Hypoplasia of penis, Polydipsia ORPHA:3157
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin OMIM:609820
African Trypanosomiasis
Tremor, Choreoathetosis, Conjunctivitis, Delirium, Abnormal EKG, Hepatomegaly, Abnormal central m... ORPHA:3385
Ppoma
Gastrointestinal hemorrhage, Hepatomegaly, Neoplasm of the pancreas, Hypercalcemia, Anorexia, Int... ORPHA:97278
Parkinson Disease, Late-Onset
Resting tremor, Dystonia, Parkinsonism, Tremor, Rigidity, Depression, Bradykinesia, Dementia, Dys... OMIM:168600
Dubowitz Syndrome
Aplasia/Hypoplasia of the thumb, Ptosis, Toe syndactyly, Sandal gap, Epicanthus, Abnormality of n... ORPHA:235
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalcemia OMIM:239199
Biotinidase Deficiency
Hepatomegaly, Ataxia, Splenomegaly, Hyperammonemia, Conjunctivitis, Lethargy OMIM:253260
Parkinson Disease 20, Early-Onset
Eyelid apraxia, Involuntary movements, Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturb... OMIM:615530
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Steatorrhea, Exocrine panc... OMIM:612714
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hemolytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy, Thrombocytopenia ORPHA:169090
Deeah Syndrome
Decreased hemoglobin concentration, Hepatomegaly, Epicanthus, Decreased heart rate variability, N... OMIM:619004
Apert Syndrome
Flat face, Facial asymmetry ORPHA:87
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response, Overlapping toe, Clonus, Hypertonia, Long eyelashes, Talipes equino... OMIM:617301
Shwachman-Diamond Syndrome 2
Normocytic anemia, Hepatomegaly, Exocrine pancreatic insufficiency, Metaphyseal widening, Steator... OMIM:617941
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Long Qt Syndrome 8
Syndactyly, Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolo... OMIM:618447
Distal Duplication 18Q
Cryptorchidism, Round face, Triangular face, Abnormal hair pattern ORPHA:1716
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Syndactyly, Anemia, Bone marrow hypocellularity, Neutropenia, Thrombocytopenia OMIM:614520
Familial Isolated Hyperparathyroidism
Hypercalcemia, Hypophosphatemia ORPHA:99879
Marbach-Schaaf Neurodevelopmental Syndrome
Speech apraxia, Torticollis, Epicanthus, Hemidystonia, Tapered finger, Tremor, Aggressive behavio... OMIM:619680
Epilepsy, Familial Adult Myoclonic, 2
Tremor, Ataxia, Blepharospasm, Myoclonus OMIM:607876
Respiratory Distress Syndrome In Premature Infants
Atelectasis, Pulmonary edema OMIM:267450
Fucosidosis
Hepatomegaly, Coxa valga, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Spastic tetraplegia... OMIM:230000
Joubert Syndrome 8
Hepatomegaly, Ataxia, Hypertonia, Prolonged neonatal jaundice, Oculomotor apraxia OMIM:612291
Williams-Beuren Syndrome
Bicuspid aortic valve, Vocal cord paralysis, Glucose intolerance, Clinodactyly of the 5th finger,... OMIM:194050
Pachydermoperiostosis
Abnormal hair quantity, Hepatomegaly, Coarse facial features, Cerebral palsy, Abnormal hair patte... ORPHA:2796
Short Stature, Dauber-Argente Type
Triangular face OMIM:619489
Infantile Liver Failure Syndrome 3
Hepatomegaly, Abnormality of the epiphysis of the femoral head, Splenomegaly, Jaundice, Hyperammo... OMIM:618641
Alexander Disease
Diabetes mellitus, Ataxia, Clonus, Sudden cardiac death, Tremor, Chorea, Abnormal pyramidal sign,... ORPHA:58
Long Qt Syndrome 9
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... OMIM:611818
Immunodeficiency 10
Autoimmune hemolytic anemia, Thrombocytopenia, Lymphadenopathy OMIM:612783
Fanconi Anemia, Complementation Group C
Pancytopenia, Epicanthus, Ventricular septal defect, Absent thumb, Absent radius, Short thumb, Re... OMIM:227645
Immune Thrombocytopenia
Gastrointestinal hemorrhage, Cerebral hemorrhage, Epistaxis, Thrombocytopenia ORPHA:3002
Osteopetrosis, Autosomal Recessive 7
Hepatomegaly, Femur fracture, Splenomegaly, Anemia, Hypocalcemic seizures OMIM:612301
Scrub Typhus
Tremor, Splenomegaly, Myocarditis, Lymphadenopathy, Hypotension, Lethargy ORPHA:83317
Bleeding Disorder, Platelet-Type, 17
Gastrointestinal hemorrhage, Increased RBC distribution width, Epistaxis, Macrothrombocytopenia, ... OMIM:187900
Grfoma
Gastrointestinal hemorrhage, Hepatomegaly, Neoplasm of the pancreas, Hypercalcemia, Anorexia, Neo... ORPHA:97261
Oculocerebrorenal Syndrome Of Lowe
Hyponatremia, Hypoammonemia, Clonus, Thrombocytopenia, Genu valgum, Depression, Self-injurious be... ORPHA:534
Immunodeficiency, Common Variable, 12, With Autoimmunity
Autoimmune hemolytic anemia, Thrombocytopenia OMIM:616576
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu... OMIM:300835
Rabson-Mendenhall Syndrome
Nephrocalcinosis, Cardiomyopathy, Polydipsia, Long penis ORPHA:769
Hyperlipoproteinemia, Type I
Splenomegaly, Hyperlipidemia, Jaundice, Hepatosplenomegaly, Lactescent serum, Increased circulati... OMIM:238600
Ivic Syndrome
Preaxial hand polydactyly, Leukocytosis, Hypoplasia of the radius, Short thumb, Radioulnar synost... ORPHA:2307
Desmoplastic Small Round Cell Tumor
Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Testicular neoplasm, Medi... ORPHA:83469
Familial Nasal Acilia
Atelectasis, Recurrent upper respiratory tract infections, Bronchiectasis ORPHA:922
Pheochromocytoma
Tachycardia, Hypercalcemia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension,... OMIM:171300
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Acute myeloid leukemia, Acute monocytic leukemia, Epistaxis, Impaired platelet aggregation, Abnor... OMIM:601399
American Trypanosomiasis
Hepatomegaly, Edema, Periorbital edema, Splenomegaly, Lymphadenopathy ORPHA:3386
Dyskeratosis Congenita, Autosomal Dominant 3
Pancytopenia, Aplastic anemia, Ataxia, Avascular necrosis of the capital femoral epiphysis, Leuko... OMIM:613990
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Flat face ORPHA:93360
Dyskeratosis Congenita
Neoplasm of the pancreas, Hepatomegaly, Abnormal eyebrow morphology, Diabetes mellitus, Telangiec... ORPHA:1775
Aneurysm Of Sinus Of Valsalva
Aortic regurgitation, Congestive heart failure, Oliguria, Heart murmur ORPHA:1054
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Hepatic fibrosis, ... OMIM:615415
Silver-Russell Syndrome 1
Testicular seminoma, Craniofacial disproportion, Triangular face, Hepatocellular carcinoma OMIM:180860
Cimdag Syndrome
Hepatomegaly, Ataxia, Microvesicular hepatic steatosis, Chorea, Dystonia, Cholelithiasis, Spasticity OMIM:619273
Combined Oxidative Phosphorylation Deficiency 15
Wolff-Parkinson-White syndrome, Incoordination, Ataxia, Ventricular septal defect, Progressive ne... OMIM:614947
Mucolipidosis Ii Alpha/Beta
Increased serum beta-hexosaminidase, Cardiomegaly, Metaphyseal widening, Hepatomegaly, Sparse eye... OMIM:252500
Recon Progeroid Syndrome
Arachnodactyly, Proximal placement of thumb, Absent lower eyelashes, Anemia, Keratoconjunctivitis... OMIM:620370
Pmm2-Cdg
Pericarditis, Epicanthus, Angina pectoris, Ataxia, Abnormality of coordination, Pericardial effus... ORPHA:79318
Arthrogryposis, Distal, Type 5
Hypertonia, Triangular face OMIM:108145
Listeriosis
Liver abscess, Tremor, Abnormal cellular immune system morphology, Granulomatosis, Conjunctivitis... ORPHA:533
Mitochondrial Complex I Deficiency, Nuclear Type 1
Hepatomegaly, Ataxia, Hypoglycemia, Splenomegaly, Babinski sign, Concentric hypertrophic cardiomy... OMIM:252010
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Epicanthus, Ventricular septal defect, Tapered finger, Coxa valga, Abnormal repetitive mannerisms... OMIM:301040
Gabriele-De Vries Syndrome
Hallux valgus, Waddling gait, Telecanthus, Sandal gap, Tremor, Long fingers, Sparse eyebrow, Epib... OMIM:617557
Hereditary Folate Malabsorption
Pancytopenia, Eosinophilia, Anorexia, Megaloblastic anemia, Thrombocytopenia ORPHA:90045
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Ataxia, Tremor, Babinski sign, Spastic paraplegia, Xerostomia, Dysmetria, Spasticity OMIM:618527
Short Qt Syndrome 2
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... OMIM:609621
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Juvenile myelomonocytic leukemia, Highly arched eyebrow, Polyhydramnios, Lymphedema, Splenomegaly... OMIM:613563
Campomelia, Cumming Type
Hepatomegaly, Coarse facial features, Lymphedema, Pancreatic cysts, Abnormality of the pancreas, ... ORPHA:1318
Fanconi Anemia, Complementation Group E
Pancytopenia, Absent thumb, Absent radius, Short thumb, Reticulocytopenia, Abnormal heart morphol... OMIM:600901
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Polyhydramnios, Synophrys, Elliptocytosis, Flat face, Anemia OMIM:300990
Erythrocytosis, Familial, 6
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617980
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Ghosal Hematodiaphyseal Dysplasia
Refractory anemia, Diaphyseal dysplasia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia OMIM:231095
Thrombocytopenia-Absent Radius Syndrome
Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ... ORPHA:3320
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Portal hypertension, Anemia, Type I diabetes mellitus, Lymphopenia, Thrombocytopenia OMIM:620365
Orofaciodigital Syndrome Type 10
Flat face ORPHA:2756
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Lym... OMIM:602450
Arthrogryposis-Oculomotor Limitation-Electroretinal Anomalies Syndrome
Triangular face ORPHA:1154
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Hepatomegaly, Neutrophilia, Abscess, Elevated circulating C-reactive protein concentration, Splen... OMIM:612852
Hypotonia, Ataxia, And Delayed Development Syndrome
Speech apraxia, Long face, Pain insensitivity, Broad-based gait, Ataxia, Cryptorchidism, Synophry... OMIM:617330
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... OMIM:612690
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Mesenteric cyst, Highly arched eyebrow, Cryptorchidism, Synophrys, Triangular face, Hypertrichosis OMIM:618316
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Epistaxis, Anemia of inadequate production, Acanthocytosis, Poikilocytosis, Congenital thrombocyt... OMIM:300367
Argininosuccinic Aciduria
Hepatomegaly, Dry hair, Brittle hair, Ataxia, Elevated circulating aspartate aminotransferase con... OMIM:207900
Histiocytosis-Lymphadenopathy Plus Syndrome
Cardiomegaly, Joint contracture of the 5th finger, Atrial septal defect, Pancreatic hypoplasia, H... OMIM:602782
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Triangular face ORPHA:231140
Dpagt1-Cdg
Prolonged QT interval, Hepatomegaly, Arachnodactyly, Ataxia, Akinesia, Aggressive behavior, Tremo... ORPHA:86309
Fanconi Anemia, Complementation Group A
Pancytopenia, Absent thumb, Absent radius, Short thumb, Reticulocytopenia, Abnormal heart morphol... OMIM:227650
Parkinson Disease 21
Tremor, Rigidity, Parkinsonism, Bradykinesia OMIM:616361
Zika Virus Disease
Conjunctivitis, Thrombocytopenia ORPHA:448237
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Spastic tetraparesis, Paralysis, Chorea, Abnormal pyramidal sign, D... OMIM:272750
Jacobsen Syndrome
Broad hallux phalanx, Finger syndactyly, Toe syndactyly, Epicanthus, Ectropion, Ventricular septa... ORPHA:2308
Al Kaissi Syndrome
Synophrys, Triangular face, Torticollis, Broad-based gait OMIM:617694
Multiple Endocrine Neoplasia Type 1
Neoplasm of the pancreas, Short attention span, Hypercalcemia, Anorexia, Confusion, Shortened QT ... ORPHA:652
Arterial Calcification, Generalized, Of Infancy, 2
Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Congestive heart failure, Hypertens... OMIM:614473
Atrial Fibrillation, Familial, 7
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad... OMIM:612240
Stt3B-Cdg
Thrombocytopenia ORPHA:370924
Congenital Disorder Of Glycosylation, Type Ix
Thrombocytopenia OMIM:615597
Menke-Hennekam Syndrome 2
Square face, Flat face OMIM:618333
Campomelic Dysplasia
Flat face ORPHA:140
Long Qt Syndrome 5
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... OMIM:613695
Bleeding Disorder, Platelet-Type, 21
Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired platelet aggregation, Incre... OMIM:617443
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Epicanthus, Diabetes mellitus, Increased circulating thyroglobulin level, Portal hy... OMIM:610199
Ivic Syndrome
Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Absent thumb, Short thumb,... OMIM:147750
Hyperlipoproteinemia, Type Id
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Pancre... OMIM:615947
Nodular Non-Suppurative Panniculitis
Splenomegaly, Hepatomegaly, Edema ORPHA:33577
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response, Rocker bottom foot, Postaxial polydactyly, Rigidity, Long fingers, ... OMIM:617527
Craniofacial-Deafness-Hand Syndrome
Flat face OMIM:122880
Polycystic Liver Disease 2 With Or Without Kidney Cysts
Hepatomegaly, Hepatic cysts OMIM:617004
Immunodeficiency 22
Pericarditis, Abscess, Capillary leak, Anemia, Decreased proportion of CD4-positive helper T cell... OMIM:615758
Rift Valley Fever
Anorexia, Paralysis, Hematemesis, Paraparesis, Jaundice, Retinal hemorrhage, Hepatitis, Melena, A... ORPHA:319251
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response, Abnormality of extrapyramidal motor function, Difficulty walking, P... ORPHA:320406
Sick Sinus Syndrome 4
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... OMIM:619464
Pediatric Hepatocellular Carcinoma
Portal vein thrombosis, Hepatomegaly, Hepatic fibrosis, Hepatic necrosis ORPHA:33402
Progressive Familial Heart Block, Type Ii
Sudden cardiac death, Atrioventricular block, Complete heart block with narrow QRS complexes, Sin... OMIM:140400
Distal Deletion 10Q
Ataxia, Clonus, Widow's peak, Unsteady gait, Poor fine motor coordination, Abnormal facial shape,... ORPHA:96148
Developmental And Epileptic Encephalopathy 49
Hyperactivity, Exaggerated startle response, Facial-lingual fasciculations, Spastic tetraplegia, ... OMIM:617281
Primary Sjögren Syndrome
Normocytic anemia, Chronic active hepatitis, Raynaud phenomenon, Chorea, Vasculitis, Biliary cirr... ORPHA:289390
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Proximal radio-ulnar synostosis, Amegakaryocytic thrombocytopenia, Syndactyly, Radial bowing, Apl... OMIM:605432
Yuan-Harel-Lupski Syndrome
Broad-based gait, Unsteady gait, Distal sensory impairment, Gait ataxia, Triangular face OMIM:616652
Duplication Of Urethra
Urethral stricture, Recurrent urinary tract infections, Anuria, Hypospadias, Urinary incontinence... ORPHA:237
Dyskeratosis Congenita, Autosomal Dominant 2
Pancytopenia, Aplastic anemia, Dilated cardiomyopathy, Leukopenia, Hepatic fibrosis, Bone marrow ... OMIM:613989
Coronary Arterial Fistula
Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect... ORPHA:2041
Noonan Syndrome 14
Curly hair, Coarse facial features, Polyhydramnios, Sparse eyebrow, Cryptorchidism, Low posterior... OMIM:619745
Short Fifth Metacarpals-Insulin Resistance Syndrome
Splenomegaly, Spherocytosis, Hyperinsulinemia, Short 5th metacarpal ORPHA:66518
Apert Syndrome
Cryptorchidism, Flat face OMIM:101200
Sick Sinus Syndrome 1
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... OMIM:608567
Camptodactyly Syndrome, Guadalajara, Type Iii
Torticollis, Flat face OMIM:611929
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Sparse scalp hair, Short nail, Oval face, Paraplegia, Flat face OMIM:271640
Gracile Syndrome
Increased circulating ferritin concentration, Cholestasis, Cirrhosis, Elevated hepatic iron conce... ORPHA:53693
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Iron deficiency anemia, Flat face, Facial asymmetry ORPHA:93315
Sickle Cell Disease
Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Leukocytosis, Splenic infarction, Jau... OMIM:603903
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Ataxia, Supernumerary nipple, Facial asymmetry, Unsteady gait, Abnormal facial shape, Triangular ... ORPHA:457279
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Sideroblastic anemia, Ataxia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Cardio... OMIM:616084
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Atrial septal defect, Epicanthus, Proportionate shortening of all digits, Elevated circulating al... ORPHA:280633
Behçet Disease
Myocardial infarction, Pulmonary embolism, Anorexia, Abnormal pyramidal sign, Ataxia, Confusion, ... ORPHA:117
Silver-Russell Syndrome 2
Triangular face OMIM:618905
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Overlapping toe, Proximal placement of thumb, Increased mean platelet volume, Tapered finger, Hig... ORPHA:487796
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Atrial septal defect, Severe B lymphocytopenia, Portal hypertension, Tapered fi... OMIM:620005
Jacobsen Syndrome
Ptosis, Epicanthus, Telecanthus, Atrial septal defect, Ventricular septal defect, Abnormal eyelas... OMIM:147791
Cornelia De Lange Syndrome 1
Ptosis, Ventricular septal defect, Micromelia, Proximal placement of thumb, Curly eyelashes, High... OMIM:122470
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Abnormal facial shape, Triangular face, Spastic tetraplegia, Hyperesthesia ORPHA:371364
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Acute pancreatitis, Lymphadenitis, Splenomegaly, Recurrent tonsillitis, Lymphad... OMIM:618935
Familial Mediterranean Fever
Hepatomegaly, Pericarditis, Neutrophilia, Elevated circulating C-reactive protein concentration, ... OMIM:249100
Global Developmental Delay With Speech And Behavioral Abnormalities
Cryptorchidism, Triangular face, Supernumerary nipple OMIM:619243
Ruijs-Aalfs Syndrome
Premature graying of hair, Triangular face, Sparse hair, Hepatocellular carcinoma OMIM:616200
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Congestive heart failure, Neutropenia i... ORPHA:391487
Immunodeficiency 40
Hepatomegaly, Eosinophilic granuloma, T lymphocytopenia, Macrovesicular hepatic steatosis, Thromb... OMIM:616433
Tracheobronchopathia Osteochondroplastica
Recurrent respiratory infections, Pneumonia, Bronchitis, Atelectasis, Recurrent pneumonia ORPHA:3348
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Elevated hepatic transaminase, Hepatomegaly, Speech apraxia, Impaired vibratory sensation, Clonus... ORPHA:415
Complete Atrioventricular Septal Defect
Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ... ORPHA:1329
Fanconi Anemia
Abnormal eyelid morphology, Abnormal femur morphology, Leukopenia, Abnormality of the liver, Trip... ORPHA:84
Fanconi Anemia, Complementation Group F
Absent thumb, Short thumb, Hypoplasia of the radius, 2-3 finger syndactyly, Anemia, Leukopenia, B... OMIM:603467
Glucose-Galactose Malabsorption
Hypernatremia, Hypercalcemia ORPHA:35710
Lipodystrophy, Congenital Generalized, Type 1
Hepatic steatosis, Hepatomegaly, Hypertriglyceridemia, Acute pancreatitis, Diabetes mellitus, Spl... OMIM:608594
Multiple Endocrine Neoplasia, Type I
Hypoglycemia, Pancreatic islet cell adenoma, Hypercalcemia, Insulinoma, Increased circulating cor... OMIM:131100
Silver-Russell Syndrome 3
Unilateral cryptorchidism, Triangular face, Oligohydramnios OMIM:616489
Cardiac Arrhythmia, Ankyrin-B-Related
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope OMIM:600919
Metachromatic Leukodystrophy
Incoordination, Ataxia, Tremor, Neoplasm of the gallbladder, Abnormal gallbladder morphology, Hem... ORPHA:512
Autoimmune Hemolytic Anemia, Warm Type
Autoimmune hemolytic anemia, Tachycardia, Splenomegaly, Congestive heart failure, Jaundice, Chron... ORPHA:90033
Chopra-Amiel-Gordon Syndrome
High anterior hairline, Triangular face OMIM:619504
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Splenomegaly, Vasculitis in the skin, Anemia, Hepatomegaly OMIM:620296
O'Sullivan-Mcleod Syndrome
Tremor, Somatic sensory dysfunction, Eosinophilia, Fasciculations ORPHA:99965
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hypercalcemia, Hyperphosphatemia, Metacarpal periosteal thickening OMIM:617994
Dyskeratosis Congenita, Autosomal Recessive 1
Pancytopenia, Aplastic anemia, Sparse eyelashes, Nasolacrimal duct obstruction, Hepatic fibrosis,... OMIM:224230
Acute Radiation Syndrome
Telangiectasia, Granulocytopenia, Hypotension, Lymphopenia, Thrombocytopenia ORPHA:454831
Camurati-Engelmann Disease
Waddling gait, Abnormal morphology of the radius, Metaphyseal dysplasia, Hepatomegaly, Ataxia, Ab... ORPHA:1328
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Pericarditis, Elevated circulating C-reactive protein concentration, Splenomegaly, Leukocytosis, ... ORPHA:32960
Lymphangioleiomyomatosis
Gastrointestinal hemorrhage, Abnormal urinary color, Renal neoplasm, Recurrent respiratory infect... ORPHA:538
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Flat face, Hypertrichosis OMIM:619479
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F, Atrial septal defect, Ventricular septal defect, Increased size of n... OMIM:619769
Argininemia
Hepatomegaly, Micronodular cirrhosis, Cholestasis, Progressive spastic quadriplegia, Portal fibro... OMIM:207800
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Splenomegaly, Leukocytosis, Intraalveolar phospholipid accumulation OMIM:618042
Supranuclear Palsy, Progressive, 1
Axial dystonia, Eyelid apraxia, Parkinsonism, Akinesia, Tremor, Rigidity, Dysphagia, Bradykinesia... OMIM:601104
Mulchandani-Bhoj-Conlin Syndrome
Triangular face OMIM:617352
Robinow Syndrome, Autosomal Recessive 1
Cryptorchidism, Long eyelashes, Flat face OMIM:268310
Hypocalciuric Hypercalcemia, Familial, Type Ii
Pancreatitis, Hypermagnesemia, Hypercalcemia OMIM:145981
Hermansky-Pudlak Syndrome 9
Leukopenia, Abnormal platelet aggregation, Thrombocytopenia OMIM:614171
Sotos Syndrome
Narrow face, Sparse eyebrow, Cryptorchidism, Poor coordination, Prolonged neonatal jaundice, High... OMIM:117550
Cutis Laxa, Autosomal Recessive, Type Iiib
Cryptorchidism, Fine hair, Athetosis, Sparse hair, Triangular face OMIM:614438
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Polydipsia, Aggressive behavior, Recurrent upper respiratory tract infections, Enuresis, Self-inj... ORPHA:293987
Glycogen Storage Disease Ic
Hepatomegaly, Hypoglycemia, Cyclic neutropenia, Spider hemangioma, Chronic pancreatitis, Hyperlip... OMIM:232240
Larsen Syndrome
Cryptorchidism, Flat face, Short nail OMIM:150250
Ayme-Gripp Syndrome
Sparse scalp hair, Nail dystrophy, Craniofacial asymmetry, Flat face, Broad eyebrow OMIM:601088
Von Willebrand Disease, Type 3
Impaired platelet aggregation, Joint hemorrhage, Epistaxis, Thrombocytopenia OMIM:277480
Systemic Lupus Erythematosus
Hemolytic anemia, Raynaud phenomenon, Chorea, Depression, Lymphadenopathy, Leukopenia, Hypertensi... ORPHA:536
Neutral Lipid Storage Disease With Ichthyosis
Elevated hepatic transaminase, Hepatomegaly, Alopecia, Ataxia, Micronodular cirrhosis, Abnormal g... ORPHA:98907
Alagille Syndrome 2
Cholestatic liver disease, Triangular face, Cholestasis OMIM:610205
Hyperekplexia 3
Hypertonia, Exaggerated startle response, Syncope, Myoclonus OMIM:614618
Quebec Platelet Disorder
Joint hemorrhage, Epistaxis, Thrombocytopenia, Impaired epinephrine-induced platelet aggregation OMIM:601709
Plaa-Associated Neurodevelopmental Disorder
Hyperextensibility of the finger joints, Exaggerated startle response, Rocker bottom foot, Rigidi... ORPHA:521426
Acute Monoblastic/Monocytic Leukemia
Oliguria, Anorexia ORPHA:514
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Exaggerated startle response, Tremor, Fasciculations, Atrial septal defect, Patent foramen ovale,... OMIM:620327
Nijmegen Breakage Syndrome
Conjunctival telangiectasia, Autoimmune hemolytic anemia, Hyperactivity, Sandal gap, Epicanthus, ... OMIM:251260
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response, Clonus, Spasticity, Myoclonus OMIM:618201
Tay-Sachs Disease
Psychomotor deterioration, Exaggerated startle response, Dementia, Hypertonia OMIM:272800
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia OMIM:612089
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1
Small face, Sparse scalp hair, Flat face OMIM:130070
Hypocalciuric Hypercalcemia, Familial, Type I
Pancreatitis, Hypermagnesemia, Hypercalcemia OMIM:145980
Skin Creases, Congenital Symmetric Circumferential, 2
Cryptorchidism, Synophrys, Low anterior hairline, Flat face, Long face OMIM:616734
Myotubular Myopathy With Abnormal Genital Development
Hypospadias, Atelectasis, Glandular hypospadias, Micropenis, Penile hypospadias OMIM:300219
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Medial flaring of the eyebrow, Long face, Synophrys, Hypertrichosis, Triangular face, Broad eyebr... OMIM:620113
Campomelic Dysplasia
Small face, Flat face, Short nail, Polyhydramnios OMIM:114290
Nijmegen Breakage Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Abnormal eyelid morphology, Acute leukemia, Upslan... ORPHA:647
Hermansky-Pudlak Syndrome 5
Absent platelet dense granules, Impaired ADP-induced platelet aggregation, Epistaxis, Thrombocyto... OMIM:614074
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Ataxia, Paralysis, Microvesic... OMIM:203700
Branchioskeletogenital Syndrome
Absent nipple, Highly arched eyebrow, Synophrys, Blepharochalasis, Flat face ORPHA:1299
Sotos Syndrome
Ventricular septal defect, Hypercalcemia, Aggressive behavior, Tremor, Bilateral camptodactyly, P... ORPHA:821
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Recurrent respiratory infections, Atelectasis, Elevated bronchoalveolar lavage fluid neutrophil p... OMIM:610978
Autosomal Dominant Spastic Paraplegia Type 9A
Tremor, Babinski sign, Abnormal pyramidal sign, Spastic dysarthria, Mitral regurgitation, Dementi... ORPHA:447753
Fanconi Anemia, Complementation Group B
Ventricular septal defect, Aplastic anemia, Absent thumb, Bilateral radial aplasia, Thrombocytopenia OMIM:300514
Autosomal Recessive Hypophosphatemic Rickets
Renal hypophosphatemia, Coxa vara, Tibial bowing, Hypophosphatemic rickets, Hypocalcemic tetany, ... ORPHA:289176
Dyskeratosis Congenita, Autosomal Recessive 2
Pancytopenia, Cirrhosis, Bone marrow hypocellularity, Thrombocytopenia OMIM:613987
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Supernumerary nipple, Sparse eyebrow, Synophrys, Gait disturbance, High anterior hairline, Triang... OMIM:620098
Osteogenesis Imperfecta, Type V
Triangular face OMIM:610967
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Sparse eyebrow, Sparse eyelashes, Hypoalbuminemia OMIM:614748
Camptodactyly Syndrome, Guadalajara Type 3
Flat face, Thick eyebrow, Facial asymmetry ORPHA:488434
Marchiafava-Bignami Disease
Addictive alcohol use, Urinary incontinence, Aggressive behavior ORPHA:221074
Noonan Syndrome
Abnormal hair quantity, Hepatomegaly, Lymphedema, Abnormality of the spleen, Cryptorchidism, Abno... ORPHA:648
Citrullinemia, Classic
Hepatomegaly, Ataxia, Cerebral edema, Cirrhosis OMIM:215700
Multiple Endocrine Neoplasia Type 4
Hypercalcemia, Insulinoma, Fasting hyperinsulinemia, Thymoma, Extrahepatic cholestasis, Increased... ORPHA:276152
Galactosialidosis
Coarse facial features, Nonimmune hydrops fetalis, Visceromegaly, Hepatosplenomegaly OMIM:256540
Xq12-Q13.3 Duplication Syndrome
Cryptorchidism, Triangular face, Impaired pain sensation ORPHA:314389
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Short humerus, Exaggerated startle response, Short femur, Tapered finger, Epiblepharon, Irritabil... OMIM:618367
Pituitary Dermoid And Epidermoid Cysts
Polydipsia ORPHA:91351
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Distichiasis, Ventricular septal defect, Sinus bradycardia OMIM:126320
Zollinger-Ellison Syndrome
Gastrointestinal hemorrhage, Hypercalcemia, Jaundice, Extrahepatic cholestasis, Hematochezia, Inc... ORPHA:913
Fetal And Neonatal Alloimmune Thrombocytopenia
Gastrointestinal hemorrhage, Cerebral palsy, Subarachnoid hemorrhage, Neonatal alloimmune thrombo... ORPHA:853
Platelet Disorder, Undefined
Impaired platelet aggregation, Thrombocytopenia OMIM:173420
Hellp Syndrome
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Cerebral hemorrhage, Micro... ORPHA:244242
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Ataxia, Hypoglycemia, Highly arched eyebrow, Increased hepatocellular lipid droplets, Tremor, Mic... OMIM:220111
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Elevated hepatic transaminase, Hepatomegaly, Hepatic hemangioma, Triangular face ORPHA:73230
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Tricuspid regurgitation, Atelectasis, Bronchiectasis, Abnormal pulmonary interstitial morphology,... OMIM:620233
Primary Ciliary Dyskinesia
Recurrent sinopulmonary infections, Peribronchovascular interstitial thickening, Pulmonary situs ... ORPHA:244
Tremor, Nystagmus, And Duodenal Ulcer
Tremor, Kinetic tremor OMIM:190310
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome
Somatic sensory dysfunction, Ataxia, Spasticity, High anterior hairline, Triangular face OMIM:615510
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Hepatomegaly, Hypopigmentation of hair, Abnormal eyebrow morphology, Ataxia, Splenomegaly, Abnorm... ORPHA:163746
Paganini-Miozzo Syndrome
Triangular face OMIM:301025
Silver-Russell Syndrome Due To A Point Mutation
Cryptorchidism, Triangular face, Oligohydramnios ORPHA:397590
Kyphomelic Dysplasia
Flat face OMIM:211350
Congenital Disorder Of Glycosylation, Type Iim
Epicanthus, Hypertension, Atrial septal defect, Neonatal hyperbilirubinemia, Thick eyebrow OMIM:300896
Halperin-Birk Syndrome
Inability to walk, Spastic tetraplegia, Pseudobulbar paralysis, Hypertonia, Long eyelashes, Trian... OMIM:618651
Hepatoerythropoietic Porphyria
Hemolytic anemia, Abnormal circulating porphyrin concentration, Splenomegaly, Loss of eyelashes, ... ORPHA:95159
Insulin-Like Growth Factor I, Resistance To
Sparse scalp hair, Highly arched eyebrow, Synophrys, Abnormal facial shape, Triangular face, Thic... OMIM:270450
Klatskin Tumor
Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy ORPHA:99978
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Multiple Endocrine Neoplasia Type 2
Hypercalcemia, Cervical lymphadenopathy, Neoplasm of the liver, Palpitations, Hypertensive crisis... ORPHA:653
Idiopathic Chronic Eosinophilic Pneumonia
Atelectasis, Pleural effusion, Hypersensitivity pneumonitis ORPHA:2902
Genitourinary And/Or Brain Malformation Syndrome
Cryptorchidism, Flat face, Long face OMIM:618820
X-Linked Mandibulofacial Dysostosis
Cryptorchidism, Triangular face, Aplasia/Hypoplasia of the eyebrow, Facial asymmetry ORPHA:1131
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Dyskeratosis Congenita, X-Linked
Acute myeloid leukemia, Pancytopenia, Ataxia, Sparse eyelashes, Anemia, Leukopenia, Conjunctiviti... OMIM:305000
Chromosome 10Q26 Deletion Syndrome
Broad-based gait, Cryptorchidism, Low posterior hairline, Triangular face, Facial asymmetry OMIM:609625
Trichorhinophalangeal Syndrome Type 1
Sparse eyelashes, Sparse eyebrow, Leukonychia, Sparse hair, Triangular face ORPHA:77258
Blue Rubber Bleb Nevus
Iron deficiency anemia, Intestinal bleeding, Abnormality of the liver, Thrombocytopenia OMIM:112200
Holoprosencephaly 7
Synophrys, Flat face, Broad face OMIM:610828
Multiple System Atrophy 1, Susceptibility To
Orthostatic hypotension, Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia, Cog... OMIM:146500
Thrombocytopenia 6
Spontaneous, recurrent epistaxis, Thrombocytopenia OMIM:616937
Alazami Syndrome
Sparse eyebrow, Triangular face ORPHA:319671
Andersen-Tawil Syndrome
Periodic hyperkalemic paralysis, Periodic paralysis, Abnormal facial shape, Periodic hypokalemic ... ORPHA:37553
Spondylometaphyseal Dysplasia, Pagnamenta Type
Triangular face OMIM:619638
Maternal Uniparental Disomy Of Chromosome 6
Thrombocytopenia ORPHA:96181
Feingold Syndrome 1
Accessory spleen, Polyhydramnios, Asplenia, Vocal cord paralysis, Polysplenia, Annular pancreas, ... OMIM:164280
Three M Syndrome 1
Triangular face, Decreased testicular size, Thick eyebrow OMIM:273750
Plague
Hepatomegaly, Tachycardia, Anorexia, Hematemesis, Splenomegaly, Lymphadenitis, Unsteady gait, Slu... ORPHA:707
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome
Coarse facial features, Generalized hirsutism, High anterior hairline, Triangular face, Thick eye... ORPHA:1292
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response, Hypertonia ORPHA:163985
Woodhouse-Sakati Syndrome
Alopecia, Triangular face, Fine hair, Choreoathetosis, Abnormality of extrapyramidal motor functi... OMIM:241080
Carney Triad
Gastrointestinal hemorrhage, Tachycardia, Anorexia, Mediastinal lymphadenopathy, Lymphadenopathy,... ORPHA:139411
Cockayne Syndrome B
Hepatomegaly, Dry hair, Ataxia, Abnormal hair morphology, Splenomegaly, Tremor, Cryptorchidism, S... OMIM:133540
Ring Chromosome 7 Syndrome
Hydrocele testis, Low anterior hairline, Flat face, Highly arched eyebrow ORPHA:1449
Agammaglobulinemia 9, Autosomal Recessive
Thrombocytopenia, Absent circulating B cells OMIM:619693
Beemer-Ertbruggen Syndrome
Thrombocytopenia ORPHA:1237
Nizon-Isidor Syndrome
Sparse eyebrow, Triangular face, Upper eyelid edema OMIM:618872
Kasabach-Merritt Syndrome
Reticulocytosis, Thrombocytopenia, Abnormal lymphatic vessel morphology, Leukopenia, Hepatic hema... ORPHA:2330
Mesomelia-Synostoses Syndrome
Abnormal eyebrow morphology, Triangular face ORPHA:2496
Arthrogryposis, Distal, Type 2B1
Triangular face OMIM:601680
Thymoma
Leukemia, Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis ORPHA:99867
Cryohydrocytosis
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis OMIM:185020
Distal 17P13.1 Microdeletion Syndrome
Abnormal facial shape, Triangular face ORPHA:319171
Down Syndrome
Flat face, Myeloproliferative disorder, Acute megakaryocytic leukemia OMIM:190685
Cole-Carpenter Syndrome 2
Triangular face, Oligohydramnios OMIM:616294
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Bicuspid aortic valve, Compulsive behaviors, Atrial septal defect, Abnormal repetitive mannerisms... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Bicuspid aortic valve, Compulsive behaviors, Atrial septal defect, Abnormal repetitive mannerisms... ORPHA:353277
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Curly hair, Lower limb spasticity, Cerebral palsy, Ataxia, Coarse facial features, Low anterior h... OMIM:619950
Marbach-Rustad Progeroid Syndrome
Triangular face, Intention tremor OMIM:619322
Wiskott-Aldrich Syndrome
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... OMIM:301000
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Broad-based gait, Abnormal facial shape, Triangular face, Distal sensory impairment ORPHA:477817
Hyperekplexia 2
Exaggerated startle response, Hypertonia, Myoclonus OMIM:614619
Osteogenesis Imperfecta
Aortic regurgitation, Abnormal endocardium morphology, Bowing of the long bones, Rhizomelia, Atax... ORPHA:666
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response, Hypertonia OMIM:300607
Waardenburg Syndrome Type 3
Atelectasis ORPHA:896
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Atelectasis, Cardiomyopathy, Reduced left ventricular ejection fraction, Dysphagia, Pulmonary art... ORPHA:258
Menke-Hennekam Syndrome 1
Square face, Cryptorchidism, Long eyelashes, Sparse hair, Flat face, Thick eyebrow OMIM:618332
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Cutis Laxa, Autosomal Recessive, Type Ib
Arachnodactyly, Narrow palpebral fissure, Bradycardia, Pulmonary insufficiency, Downslanted palpe... OMIM:614437
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Macroorchidism, Triangular face ORPHA:85327
Congenital Disorder Of Glycosylation, Type Iiw
Hepatomegaly, Ventricular septal defect, Microcytic anemia, Splenomegaly, Anemia, Increased hepat... OMIM:619525
Cerebral Amyloid Angiopathy, Itm2B-Related, 1
Tremor, Spasticity, Hypertonia, Rigidity OMIM:176500
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Waddling gait, Triangular face, Oligozoospermia, Sparse hair, Breast hypoplasia, Long face OMIM:614813
Elliptocytosis 1
Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis OMIM:611804
Hyperekplexia 1
Exaggerated startle response, Hypertonia, Myoclonus, Frequent falls OMIM:149400
Osteogenesis Imperfecta, Type Xiii
Triangular face, Long eyelashes, Generalized hirsutism OMIM:614856
Familial Hypocalciuric Hypercalcemia
Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia, Pancreatitis, Hypocalcemic seizures ORPHA:405
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Hallux valgus, Speech apraxia, Ataxia, Left ventricular noncompaction cardiomyopathy, Impulsivity... OMIM:300967
Fanconi Anemia, Complementation Group I
Triangular face, Bone marrow hypocellularity, Neutropenia OMIM:609053
Isolated Osteopoikilosis
Addictive alcohol use, Abnormality of the kidney ORPHA:166119
20Q13.33 Microdeletion Syndrome
Triangular face, Highly arched eyebrow, Oligohydramnios ORPHA:261311
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Decreased renal tubular phosphate excretion, Nephrocalcinosis, Increased renal tubular phosphate ... OMIM:211900
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Bicuspid aortic valve, Compulsive behaviors, Atrial septal defect, Abnormal repetitive mannerisms... ORPHA:353281
Short Syndrome
Sparse hair, Alopecia, Triangular face ORPHA:3163
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Triangular face, Facial asymmetry ORPHA:1110
Bruck Syndrome
Triangular face ORPHA:2771
Chromosome 14Q11-Q22 Deletion Syndrome
Unilateral cryptorchidism, Bilateral cryptorchidism, Inability to walk, Cryptorchidism, Hypertoni... OMIM:613457
Beckwith-Wiedemann Syndrome
Hepatomegaly, Hypoglycemia, Elevated circulating alpha-fetoprotein concentration, Cardiomegaly, N... ORPHA:116
Phosphoribosylpyrophosphate Synthetase Superactivity
Sparse hair, Cryptorchidism, Ataxia, Triangular face OMIM:300661
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Brittle hair, Triangular face, Long face OMIM:619184
Ciliary Dyskinesia, Primary, 1
Pneumonia, Atelectasis, Bronchiectasis, Recurrent bronchitis OMIM:244400
Three M Syndrome 3
Triangular face OMIM:614205
Robinow Syndrome, Autosomal Dominant 1
Cryptorchidism, Long eyelashes, Flat face OMIM:180700
Omodysplasia 1
Cryptorchidism, Flat face OMIM:258315
Granulomatous Disease, Chronic, X-Linked
Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur... OMIM:306400
Ciliary Dyskinesia, Primary, 20
Recurrent respiratory infections, Atelectasis, Pulmonary artery stenosis, Recurrent pneumonia, Br... OMIM:615067
Roberts Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Bowing of the long bones, Sand... ORPHA:3103
Andersen Cardiodysrhythmic Periodic Paralysis
Periodic hypokalemic paresis, Triangular face, Facial asymmetry, Periodic paralysis OMIM:170390
Relapsing Polychondritis
Glomerulopathy, Renal insufficiency, Pericarditis, Proteinuria, Myocarditis, Atelectasis, Large v... ORPHA:728
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome
Triangular face ORPHA:3218
Nicolaides-Baraitser Syndrome
Absent eyebrow, Dry hair, Sparse scalp hair, Cryptorchidism, Low anterior hairline, Low posterior... OMIM:601358
Saethre-Chotzen Syndrome
Low anterior hairline, Flat face, Facial asymmetry OMIM:101400
Distal Deletion 3P
Cryptorchidism, Spasticity, Abnormal vestibulo-ocular reflex, Triangular face ORPHA:1620
Ohdo Syndrome, X-Linked
Coarse facial features, Sparse eyebrow, Cryptorchidism, High anterior hairline, Triangular face, ... OMIM:300895
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Speech apraxia, Long face, Ataxia, Supernumerary nipple, Bilateral cryptorchidism, Cryptorchidism... ORPHA:466791
Thrombocytopenia 3
Thrombocytopenia, Epistaxis, Decreased mean platelet volume OMIM:273900
Osteogenesis Imperfecta, Type Iii
Triangular face OMIM:259420
Trisomy 18
Narrow face, Cryptorchidism, Hypertonia, Triangular face, Oligohydramnios ORPHA:3380
Zygomycosis
Gastrointestinal hemorrhage, Renal insufficiency, Pericarditis, Epistaxis, Hematemesis, Myocardit... ORPHA:73263
Cree Mental Retardation Syndrome
Cryptorchidism, Triangular face OMIM:606851
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Broad toe, Exaggerated startle response, Epicanthus, Telecanthus, Atrial septal defect, Ventricul... OMIM:619522
Vici Syndrome
Hypopigmentation of hair, Albinism, Decreased proportion of CD4-positive helper T cells, Leukopen... OMIM:242840
Cutis Laxa, Autosomal Recessive, Type Iib
Triangular face OMIM:612940
Chromosome 17Q12 Duplication Syndrome
Triangular face OMIM:614526
3M Syndrome
Triangular face, Thick eyebrow ORPHA:2616
Three M Syndrome 2
Triangular face OMIM:612921
Acromesomelic Dysplasia 4
Synophrys, Generalized hirsutism, Triangular face, Thick eyebrow, Hypertrichosis OMIM:619636
Igg4-Related Dacryoadenitis And Sialadenitis
Palpebral edema, Retroperitoneal fibrosis, Enlarged lacrimal glands, Lymphadenopathy, Abnormality... ORPHA:79078
Alport Syndrome 1, X-Linked
Hypertension, Thrombocytopenia OMIM:301050
Secondary Non-Traumatic Avascular Necrosis
Addictive alcohol use ORPHA:399180
Marfanoid-Progeroid-Lipodystrophy Syndrome
Triangular face, Oligohydramnios OMIM:616914
Short Syndrome
Triangular face OMIM:269880
Mosaic Variegated Aneuploidy Syndrome 2
Sparse hair, Triangular face, Long face OMIM:614114
Thrombocytopenia 1
Epistaxis, Decreased mean platelet volume, Intermittent thrombocytopenia, Joint hemorrhage, Conge... OMIM:313900
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Sparse eyebrow, Gait ataxia, Difficulty walking, Abnormal facial shape, Triangular face, Broad ey... ORPHA:457359
Silver-Russell Syndrome
Cryptorchidism, Triangular face, Decreased testicular size ORPHA:813
Autosomal Dominant Hyper-Ige Syndrome
Atelectasis, Recurrent respiratory infections ORPHA:2314
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Sparse eyebrow, Long face, Triangular face, Gait ataxia OMIM:617011
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Difficulty walking, Dysphagia, Sinus bradycardia OMIM:619482
Marshall-Smith Syndrome
Brittle hair, Highly arched eyebrow, Bilateral cryptorchidism, Cryptorchidism, Synophrys, Hyperto... OMIM:602535
Autosomal Recessive Faciodigitogenital Syndrome
Dry hair, Hypopigmentation of hair, Widow's peak, Coarse hair, Triangular face, Long face ORPHA:1974
Cutis Laxa, Autosomal Recessive, Type Ic
Atelectasis, Recurrent pneumonia, Pulmonary hypoplasia, Multiple bladder diverticula, Emphysema, ... OMIM:613177
Mandibuloacral Dysplasia Progeroid Syndrome
Elevated hepatic transaminase, Hepatomegaly, Elevated hemoglobin A1c, Sparse eyebrow, Macrovesicu... OMIM:619127
Mosaic Variegated Aneuploidy Syndrome
Polyhydramnios, Increased nuchal translucency, Acute lymphoblastic leukemia, Ascites, Triangular ... ORPHA:1052
Noonan Syndrome 1
Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Ptosis, Epicanthus, Ventricul... OMIM:163950
Meier-Gorlin Syndrome 3
Sparse axillary hair, Sparse pubic hair, Cryptorchidism, Breast hypoplasia, Triangular face OMIM:613803
Kbg Syndrome
Round face, Cryptorchidism, Synophrys, Low anterior hairline, Low posterior hairline, Triangular ... OMIM:148050
Vascular Ehlers-Danlos Syndrome
Alopecia, Abnormality of hair texture, Abnormal eyelash morphology, Cryptorchidism, Cystocele, Fl... ORPHA:286
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Aplasia of the thymus, Low anterior hairline, T lymphocytopenia, Abnormal B cell morphology, Tria... OMIM:618223
Arboleda-Tham Syndrome
Highly arched eyebrow, Facial asymmetry, Bilateral cryptorchidism, Upper eyelid edema, Lower limb... OMIM:616268
Osteogenesis Imperfecta, Type Xi
Triangular face OMIM:610968
Cutis Laxa, Autosomal Dominant 3
Triangular face OMIM:616603
Hennekam-Beemer Syndrome
Mastocytosis, Triangular face ORPHA:2135
Woodhouse-Sakati Syndrome
Alopecia, Triangular face, Choreoathetosis, Dystonia, Decreased testicular size, Aplasia/Hypoplas... ORPHA:3464
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Spastic tetraparesis, Cryptorchidism, Widow's peak, Annular pancreas, Triangular face, Broad eyebrow OMIM:616975
Whim Syndrome
Pneumonia, Respiratory tract infection, Atelectasis, Recurrent upper respiratory tract infections... ORPHA:51636
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Round face, Highly arched eyebrow, Spastic tetraparesis, Synophrys, Low anterior hairline, Hypert... OMIM:301044
Congenital Myopathy 17
Triangular face, Polyhydramnios OMIM:618975
3Q27.3 Microdeletion Syndrome
Triangular face ORPHA:397695
Herpes Simplex Virus Encephalitis
Addictive alcohol use ORPHA:1930
Meier-Gorlin Syndrome 5
Cryptorchidism, Triangular face OMIM:613805
Alagille Syndrome 1
Elevated hepatic transaminase, Hepatocellular carcinoma, Cholestasis, Reduced number of intrahepa... OMIM:118450
Renpenning Syndrome 1
Long face, Narrow face, Brittle hair, Triangular face, Sparse hair, Spasticity, Decreased testicu... OMIM:309500
Wiedemann-Rautenstrauch Syndrome
Sparse scalp hair, Absent eyebrow, Alopecia, Sparse eyelashes, Absent eyelashes, Sparse eyebrow, ... OMIM:264090
Bartter Syndrome Type 4
Dehydration, Triangular face, Polyhydramnios, Clumsiness ORPHA:89938
Fontaine Progeroid Syndrome
Sparse scalp hair, Absent nipple, Cryptorchidism, Synophrys, Low anterior hairline, Oligohydramni... OMIM:612289
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Renal neoplasm, Atelectasis, Pulmonary hypoplasia, Repeated pneumothoraces ORPHA:536467
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Cryptorchidism, Poor coordination, Spastic diplegia, Low posterior hairline, Triangular face, Lon... OMIM:309590
Pancreatic And Cerebellar Agenesis
Pancreatic hypoplasia, Triangular face, Anemia, Pancreatic aplasia OMIM:609069
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Coarse facial features, Triangular face OMIM:617260
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Cryptorchidism, Abnormal facial shape, Triangular face ORPHA:96182
Wiedemann-Rautenstrauch Syndrome
Sparse scalp hair, Ataxia, Action tremor, Tremor, Cryptorchidism, Synophrys, Hypertonia, Truncal ... ORPHA:3455
Alström Syndrome
Hepatic fibrosis, Hepatic steatosis, Hepatomegaly, Ataxia, Portal hypertension, Short toe, Dilate... ORPHA:64
Osteogenesis Imperfecta, Type X
Triangular face OMIM:613848
Noonan Syndrome With Multiple Lentigines
Cryptorchidism, Triangular face ORPHA:500
Distal 22Q11.2 Microduplication Syndrome
Coarse facial features, Palpebral edema, Cryptorchidism, Low posterior hairline, Triangular face ORPHA:261337
Mullegama-Klein-Martinez Syndrome
Curly eyelashes, Unsteady gait, Low anterior hairline, High anterior hairline, Triangular face OMIM:301022
Tolchin-Le Caignec Syndrome
Thick eyebrow, Triangular face, Hirsutism, Long face OMIM:618971
15q26 overgrowth syndrome
Long face, Abnormal facial shape, High anterior hairline, Triangular face, Facial asymmetry DECIPHER:81
Faciodigitogenital Syndrome, Autosomal Recessive
Cryptorchidism, Widow's peak, Triangular face OMIM:227330
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Round face, Frontal balding, Highly arched eyebrow, Tremor, Synophrys, Long lower eyelashes, Tria... OMIM:612474
Witteveen-Kolk Syndrome
Medial flaring of the eyebrow, Narrow face, Poor motor coordination, Unilateral cryptorchidism, P... OMIM:613406
Chand Syndrome
Atelectasis, Hydroureter ORPHA:1401
17Q24.2 Microdeletion Syndrome
Synophrys, Triangular face, Thick eyebrow ORPHA:529962
Lethal Congenital Contracture Syndrome 9
Triangular face, Polyhydramnios OMIM:616503
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Triangular face OMIM:619575
Distal Deletion 15Q
Cryptorchidism, Coarse facial features, Triangular face ORPHA:1596
Cutis Laxa, Autosomal Recessive, Type Iic
Bilateral cryptorchidism, Triangular face, Oligohydramnios OMIM:617402
Leopard Syndrome 1
Cryptorchidism, Triangular face OMIM:151100
Floating-Harbor Syndrome
Cryptorchidism, Low posterior hairline, Long eyelashes, Generalized hypertrichosis, Triangular fa... OMIM:136140
Cutis Laxa, Autosomal Recessive, Type Iid
Bilateral cryptorchidism, Triangular face OMIM:617403
Floating-Harbor Syndrome
Speech apraxia, Cryptorchidism, Broad-based gait, Triangular face ORPHA:2044
Galactosialidosis
Coarse facial features ORPHA:351
Autosomal Dominant Cutis Laxa
Abnormal facial shape, Triangular face ORPHA:90348

Histopathology

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

There is no histopathology data for Ctsa

IMPC related publications

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

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

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Ctsatm2e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Ctsatm2b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice
Ctsatm2a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Ctsatm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Ctsatm29429(L1L2_gt0) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Ctsatm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

The IMPC Newsletter

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

Subscribe to newsletter