banner
Genes Phenotypes Help, News, Blog

Gene: Eftud2 MGI:1336880

Log in to follow

Gene Summary

Name:
elongation factor Tu GTP binding domain containing 2
Synonyms:
U5-116kD,  116kDa,  Snrp116

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal heart left ventricle morphology Eftud2tm1b(KOMP)Wtsi HET   Late adult 1.73×10-05
decreased exploration in new environment Eftud2tm1b(KOMP)Wtsi HET Early adult 6.47×10-05
increased circulating calcium level Eftud2tm1b(KOMP)Wtsi HET   Late adult 6.09×10-05
increased circulating cholesterol level Eftud2tm1b(KOMP)Wtsi HET Early adult 5.36×10-10
decreased startle reflex Eftud2tm1b(KOMP)Wtsi HET Late adult 1.74×10-07
thrombocytosis Eftud2tm1b(KOMP)Wtsi HET Early adult 2.99×10-05
decreased heart left ventricle size Eftud2tm1b(KOMP)Wtsi HET Late adult 4.82×10-06
increased or absent threshold for auditory brainstem response Eftud2tm1b(KOMP)Wtsi HET   Late adult 0.00
increased startle reflex Eftud2tm1b(KOMP)Wtsi HET Early adult 9.12×10-05
decreased lymphocyte cell number Eftud2tm1b(KOMP)Wtsi HET Early adult 1.94×10-05
increased heart left ventricle size Eftud2tm1b(KOMP)Wtsi HET Early adult 1.47×10-11
increased circulating cholesterol level Eftud2tm1b(KOMP)Wtsi HET   Late adult 7.42×10-05
increased cardiac muscle contractility Eftud2tm1b(KOMP)Wtsi HET   Late adult 5.81×10-05
thick ventricular wall Eftud2tm1b(KOMP)Wtsi HET   Late adult 8.03×10-05
increased circulating HDL cholesterol level Eftud2tm1b(KOMP)Wtsi HET   Late adult 2.40×10-05
preweaning lethality, complete penetrance Eftud2tm1b(KOMP)Wtsi HOM   Early adult 0.00
decreased leukocyte cell number Eftud2tm1b(KOMP)Wtsi HET Early adult 1.98×10-05
increased circulating total protein level Eftud2tm1b(KOMP)Wtsi HET Early adult 7.08×10-08
increased circulating serum albumin level Eftud2tm1b(KOMP)Wtsi HET Early adult 5.47×10-13
increased circulating calcium level Eftud2tm1b(KOMP)Wtsi HET Early adult 2.87×10-12
increased circulating HDL cholesterol level Eftud2tm1b(KOMP)Wtsi HET Early adult 1.50×10-10
decreased grip strength Eftud2tm1b(KOMP)Wtsi HET Early adult 6.37×10-05

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.

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

View images
X-ray

XRay Images Whole Body Dorso Ventral

10 Images

View images
X-ray

XRay Images Whole Body Lateral Orientation

10 Images

View images
X-ray

XRay Images Whole Body Lateral Orientation

10 Images

View images

Human diseases caused by Eftud2 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 Eftud2 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Mandibulofacial Dysostosis, Guion-Almeida Type
Atrial septal defect, Overfolded helix, Ventricular septal defect, Conductive hearing impairment,... OMIM:610536
Mandibulofacial Dysostosis-Microcephaly Syndrome
Abnormality of the antihelix, Atrial septal defect, Large earlobe, Absent tragus, Overfolded heli... ORPHA:79113

The table below shows human diseases predicted to be associated to Eftud2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Finger Locking, Recurrent, With Intrauterine Growth Retardation And Proportionate Short Stature
Intrauterine growth retardation, Short stature OMIM:135950
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia, Myocardial infarction, Hypertension OMIM:608320
Immunodeficiency 69
Increased circulating ferritin concentration, Thrombocytosis, Leukocytosis, Pancytopenia, Anemia,... OMIM:618963
Cholesterol-Ester Transfer Protein Deficiency
Hypercholesterolemia, Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipoprot... ORPHA:79506
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia, T lymphocytopenia, Abnormal heart morphology DECIPHER:16
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Coronary Artery Disease, Autosomal Dominant 2
Hypercholesterolemia, Hypertension, Sudden cardiac death, Hypertriglyceridemia, Myocardial infarc... OMIM:610947
Sitosterolemia 2
Hypercholesterolemia, Elevated circulating sitosterol concentration OMIM:618666
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Thrombocytosis, Microcytic anemia, Pancytopenia, Elevated circulating C-reactive protein concentr... OMIM:604416
Hyperlipoproteinemia, Type Ii, And Deafness
Hypercholesterolemia, Hearing impairment, Hypertriglyceridemia, Increased LDL cholesterol concent... OMIM:144300
Immunodeficiency 27A
Thrombocytosis, Leukocytosis, Histiocytosis, Hypoalbuminemia, Anemia, Splenomegaly, Hepatosplenom... OMIM:209950
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia OMIM:191420
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Monocytosis, Thrombocytosis, Acute monocytic leukemia, Neutropenia, A... OMIM:202700
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hypertriglyceridemia OMIM:306000
Glycogen Storage Disease Vi
Hypercholesterolemia, Hypertriglyceridemia, Hyperlipidemia OMIM:232700
Morbid Obesity And Spermatogenic Failure
Hypercholesterolemia, Hypertension, Hypertriglyceridemia, Myocardial infarction, Congestive heart... OMIM:615703
Lethal Congenital Contracture Syndrome 3
Neonatal death OMIM:611369
Pyknoachondrogenesis
Stillbirth OMIM:265880
Acquired Idiopathic Sideroblastic Anemia
Hypochromic anemia, Thrombocytosis, Leukocytosis, Erythroid hyperplasia, Neutropenia, Hyposegment... ORPHA:75564
Sickle Cell Anemia
Iron deficiency anemia, Hypochromic anemia, Thrombocytosis, Hemolytic anemia, Chronic hemolytic a... ORPHA:232
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Hypoproteinemia, Hypoalbuminemia, Neutropenia OMIM:600351
Blue Diaper Syndrome
Hypercalcemia, Abnormal circulating tryptophan concentration OMIM:211000
Congenital Disorder Of Glycosylation, Type Iip
Hypercholesterolemia, Decreased circulating ceruloplasmin concentration, Increased LDL cholestero... OMIM:616829
Rhabdoid Tumor
Thrombocytopenia, Irritability, Hypercalcemia, Anemia ORPHA:69077
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Erythroid hypoplasia, Thrombocytosis, Abnormal erythrocyte morphology, Anisocytosis, Acute myeloi... ORPHA:86841
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Increased total bilirubin, Hypoproteinemia, Hemopha... OMIM:267700
Lymphangiectasia, Intestinal
Lymphopenia, Neonatal hypoproteinemia OMIM:152800
Adamantinoma
Hypercalcemia ORPHA:55881
Diffuse Neonatal Hemangiomatosis
Thrombocytopenia, Hypercalcemia, Anemia ORPHA:2123
Focal Segmental Glomerulosclerosis 1
Anemia, Hypoalbuminemia, Hyperlipidemia OMIM:603278
Juvenile Arthritis
Leukocytosis, Thrombocytosis OMIM:618795
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Hypoproteinemia, Lymphopenia OMIM:207731
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Hypoproteinemia, Lymphopenia ORPHA:1116
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hypoalbuminemia, Hyperlipidemia OMIM:615863
Thrombocythemia 1
Thrombocytosis, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet ... OMIM:187950
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Hypoalbuminemia OMIM:607250
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Lymphopenia OMIM:615615
Thrombocythemia 2
Thrombocytosis OMIM:601977
Multiple Myeloma
Elevated circulating creatinine concentration, Hyperproteinemia, Hypercalcemia, Anemia, Splenomegaly ORPHA:29073
Polycythemia Vera
Thrombocytosis, Increased hematocrit, Leukocytosis, Increased hemoglobin, Thrombocytopenia, Incre... OMIM:263300
Immunodeficiency 40
Lymphopenia OMIM:616433
Refractory Celiac Disease
Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Iron deficiency anemia, Microcytic anemia, Incre... ORPHA:398063
Hyperlipidemia, Familial Combined, 3
Hypercholesterolemia, Xanthelasma, Increased VLDL cholesterol concentration, Elevated circulating... OMIM:144250
Omenn Syndrome
Severe B lymphocytopenia, Hypoproteinemia, Thrombocytopenia, Hypoplasia of the thymus, B lymphocy... OMIM:603554
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Thrombocytosis, Megaloblastic anemia, Lymphopenia, Pancytopenia, Anemia of inadequate production,... OMIM:617780
Immunodeficiency 8
Lymphopenia OMIM:615401
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:603813
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hypercalcemia, Anemia ORPHA:2668
Non-Functioning Paraganglioma
Palpitations, Tremor, Hypertension associated with pheochromocytoma, Positive regitine blocking t... ORPHA:94080
Analbuminemia
Elevated circulating transferrin concentration, Hypercholesterolemia, Increased LDL cholesterol c... OMIM:616000
Hypophosphatasia
Irritability, Hypercalcemia, Anemia ORPHA:436
Hypervitaminosis A, Susceptibility To
Papilledema, Hypercalcemia OMIM:240150
Immunodeficiency 14B, Autosomal Recessive
Monocytosis, Thrombocytosis, Leukocytosis, B lymphocytopenia, Neutrophilia OMIM:619281
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Hypercholesterolemia, Hypertriglyceridemia, Splenomegaly, Hepatosplenomegaly OMIM:612526
Chronic Myeloid Leukemia
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Thro... ORPHA:521
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Congenital Disorder Of Glycosylation, Type Iio
Hypercholesterolemia, Increased LDL cholesterol concentration, Splenomegaly, Elevated circulating... OMIM:616828
Progressive Familial Intrahepatic Cholestasis
Cognitive impairment, Hypocalcemia, Abnormal thrombocyte morphology, Splenomegaly ORPHA:172
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Increased total bilirubin, Hypoproteinemia, Hemopha... OMIM:603553
Asplenia, Isolated Congenital
Thrombocytosis, Howell-Jolly bodies, Asplenia OMIM:271400
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Pancytopenia, Thrombocytopenia, Reduced natural kil... OMIM:616050
Thrombocythemia 3
Thrombocytosis OMIM:614521
Citrullinemia Type Ii
Hypercholesterolemia, Hypoproteinemia, Tremor, Aggressive behavior, Acute hyperammonemia, Hypertr... ORPHA:247585
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Tremor, Dementia, Hypoalbuminemia, Cognitive impairment, Mental deterioration OMIM:208920
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Hypoalbuminemia ORPHA:94124
Auditory Neuropathy, Autosomal Dominant, 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Chylomicron Retention Disease
Hypotriglyceridemia, Steatorrhea, Hypocholesterolemia, Decreased LDL cholesterol concentration, H... OMIM:246700
Optic Atrophy 8
Prolonged somatosensory evoked potentials, Abnormal auditory evoked potentials, Sensorineural hea... OMIM:616648
Hypercalcemia, Infantile, 1
Infantile hypercalcemia, Pulmonic stenosis, Aortic valve stenosis OMIM:143880
Secondary Intestinal Lymphangiectasia
Hypocalcemia, Hypoproteinemia, Lymphopenia ORPHA:90363
Enterokinase Deficiency
Hypoproteinemia OMIM:226200
Nephrotic Syndrome, Type 2
Hypoalbuminemia, Hyperlipidemia OMIM:600995
Trypsinogen Deficiency
Hypoproteinemia OMIM:614044
Granulomatous Slack Skin
Hypercalcemia ORPHA:33111
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Iron deficiency anemia, Hypoproteinemia, Thrombocytosis, Hypoalbuminemia OMIM:226300
Hypercalcemia, Infantile, 2
Hypophosphatemia, Hypercalcemia OMIM:616963
Sitosterolemia 1
Impaired platelet aggregation, Hypercholesterolemia, Episodic hemolytic anemia, Chronic hemolytic... OMIM:210250
Hyperparathyroidism 4
Hypercalcemia OMIM:617343
Immunodeficiency 43
Hypoproteinemia, Hypoalbuminemia OMIM:241600
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Hypoalbuminemia ORPHA:88643
Hepatic Lipase Deficiency
Angina pectoris, Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Dengue Fever
Thrombocytopenia, Hypoproteinemia, Leukopenia ORPHA:99828
Leishmaniasis
Abnormal macrophage morphology, Pancytopenia, Thrombocytopenia, Splenomegaly, Hypoalbuminemia, An... ORPHA:507
Hypocalcemia, Autosomal Dominant 2
Hypocalcemia OMIM:615361
Refractory Anemia With Excess Blasts
Leukocytosis, Thrombocytopenia, Acute myeloid leukemia, Anemia of inadequate production, Abnormal... ORPHA:86839
Immunodeficiency 24
Reduced proportion of mucosal-associated invariant T cells, Lymphopenia, Decreased CD4:CD8 ratio,... OMIM:615897
Parathyroid Carcinoma
Hypercalcemia OMIM:608266
Citrullinemia, Type Ii, Neonatal-Onset
Hypercholesterolemia, Hyperbilirubinemia, Hypermethioninemia, Hypertriglyceridemia, Decreased HDL... OMIM:605814
Sting-Associated Vasculopathy, Infantile-Onset
Thrombocytosis, Lymphopenia, Elevated circulating C-reactive protein concentration, Anemia, Leuko... OMIM:615934
Congenital Enterovirus Infection
Leukocytosis, Abnormal macrophage morphology, Pericardial effusion, Neutropenia, Thrombocytopenia... ORPHA:292
Primary Intestinal Lymphangiectasia
Iron deficiency anemia, Hypocalcemia, Hypoproteinemia, Pericardial effusion, Lymphopenia, Hypoalb... ORPHA:90362
Lysosomal Acid Lipase Deficiency
Hypercholesterolemia, Bone-marrow foam cells, Vacuolated lymphocytes, Steatorrhea, Thrombocytopen... OMIM:278000
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Hypertriglyceridemia, Splenomegaly ORPHA:75234
Neuroleptic Malignant Syndrome
Hypocalcemia, Tremor, Thrombocytosis, Leukocytosis, Hypernatremia, Hyponatremia, Elevated circula... ORPHA:94093
Myopathy, Tubular Aggregate, 2
Elevated circulating creatine kinase concentration, Hypocalcemia OMIM:615883
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
Pheochromocytoma--Islet Cell Tumor Syndrome
Positive regitine blocking test, Episodic hypertension, Cerebral hemorrhage, Hypercalcemia, Conge... OMIM:171420
Primary Myelofibrosis
Thrombocytosis, Leukocytosis, Extramedullary hematopoiesis, Pancytopenia, Thrombocytopenia, Anemi... ORPHA:824
Pseudohypoparathyroidism Type 2
Hypocalcemia, Hypocalcemic tetany, Prolonged QT interval, Hyperphosphatemia, Hypocalcemic seizures ORPHA:94090
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Abdominal Obesity-Metabolic Syndrome 3
Hypercholesterolemia, Myocardial infarction, Coronary artery stenosis, Hypertension OMIM:615812
Nephrotic Syndrome, Type 1
Hypoproteinemia, Hypoalbuminemia, Hyperlipidemia OMIM:256300
Timothy Syndrome
Hypocalcemia, Ventricular septal defect, Cardiomegaly, Prolonged QT interval, Patent foramen oval... OMIM:601005
Immunodeficiency 19
Lymphopenia OMIM:615617
Chédiak-Higashi Syndrome
Increased circulating ferritin concentration, Vacuolated lymphocytes, Pericardial effusion, Neutr... ORPHA:167
Congenital Analbuminemia
Hypercholesterolemia, Hypoproteinemia, Hypoalbuminemia, Increased alpha-globulin, Hyperlipidemia ORPHA:86816
Hypophosphatasia, Infantile
Elevated plasma pyrophosphate, Hypercalcemia, Anemia, Irritability OMIM:241500
Hemochromatosis, Type 3
Increased circulating ferritin concentration, Lymphopenia, Neutropenia, Anemia, Increased serum i... OMIM:604250
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia OMIM:221400
Erythroderma, Lethal Congenital
Hypoalbuminemia OMIM:227090
Congenital Disorder Of Glycosylation, Type Ih
Abnormal heart morphology, Thrombocytopenia, Hypoalbuminemia, Anemia, Abnormal cardiac septum mor... OMIM:608104
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypercalcemia OMIM:614732
Oculocerebrodental Syndrome
Hypocalcemia, Conductive hearing impairment, Hearing impairment, Sensorineural hearing impairment... ORPHA:557003
Sporadic Pheochromocytoma/Secreting Paraganglioma
Palpitations, Tremor, Hypertension associated with pheochromocytoma, Positive regitine blocking t... ORPHA:276621
Familial Isolated Hyperparathyroidism
Hypophosphatemia, Hypercalcemia, Infantile hypercalcemia ORPHA:99879
Nephrotic Syndrome, Type 14
Hypertriglyceridemia, Lymphopenia, Mental deterioration, Hypoalbuminemia OMIM:617575
Growth Hormone Insensitivity Syndrome
Hypercholesterolemia, Hearing impairment ORPHA:181393
9Q31.1Q31.3 Microdeletion Syndrome
Hypercholesterolemia, Aortic regurgitation, Renovascular hypertension, Bicuspid aortic valve, Dil... ORPHA:401923
Congenital Disorder Of Glycosylation, Type Ij
Hypoproteinemia, Tremor, Aggressive behavior OMIM:608093
Alpha-Heavy Chain Disease
Hypocalcemia, Anemia, Splenomegaly ORPHA:100025
Triokinase And Fmn Cyclase Deficiency Syndrome
Dilated cardiomyopathy, Hypoalbuminemia, Microcytic anemia OMIM:618805
Apolipoprotein C-Ii Deficiency
Hypercholesterolemia, Increased circulating chylomicron concentration, Hypertriglyceridemia, Decr... OMIM:207750
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Lymphopenia, Atrial septal defect, Neutropenia OMIM:614868
Ménétrier Disease
Hypochromic microcytic anemia, Hypoproteinemia, Hypoalbuminemia ORPHA:2494
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypercholesterolemia, Progressive neurologic deterioration, Leukocytosis, Left ventricular hypert... ORPHA:90065
Trichohepatoenteric Syndrome 1
Thrombocytosis, Abnormality of iron homeostasis, Ventricular septal defect, Hypermethioninemia, I... OMIM:222470
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypercholesterolemia, Postural tremor, Head tremor, Elevated alpha-fetoprotein, Hypoalbuminemia, ... ORPHA:64753
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalcemia OMIM:239199
Cog4-Cdg
Thrombocytopenia, Hypercholesterolemia, Hepatosplenomegaly, Irritability ORPHA:263501
Nephrotic Syndrome, Type 11
Dilated cardiomyopathy, Hypercholesterolemia, Hypoalbuminemia, Ventricular septal defect OMIM:616730
Beta-Ketothiolase Deficiency
Thrombocytosis, Leukocytosis, Apathy, Hyperuricemia, Hyperammonemia ORPHA:134
Congenital Disorder Of Glycosylation, Type Ia
Thrombocytosis, Pericardial effusion, Hypocholesterolemia, Hypoalbuminemia, Cardiomyopathy OMIM:212065
Smith-Magenis Syndrome
Hypercholesterolemia, Abnormal heart morphology, Morphological abnormality of the middle ear, Hyp... OMIM:182290
Leptospirosis
Thrombocytopenia, Pericarditis, Hyperproteinemia ORPHA:509
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Eosinophilic Gastroenteritis
Leukocytosis, Steatorrhea, Hypoalbuminemia, Anemia, Elevated circulating C-reactive protein conce... ORPHA:2070
Hemorrhagic Fever-Renal Syndrome
Hypoproteinemia, Leukocytosis, Abnormal pericardium morphology, Thrombocytopenia, Abnormal myocar... ORPHA:340
3-Hydroxy-3-Methylglutaric Aciduria
Thrombocytosis, Leukocytosis, Apathy, Hyperuricemia, Leukopenia, Anemia, Dilated cardiomyopathy, ... ORPHA:20
Temple Syndrome
Hypercholesterolemia, Hypertriglyceridemia OMIM:616222
Paternal Uniparental Disomy Of Chromosome 1
Progressive psychomotor deterioration, Episodic hemolytic anemia, Hypercalcemia, Increased blood ... ORPHA:251004
Lipodystrophy, Familial Partial, Type 7
Hypercholesterolemia, Hypertriglyceridemia, Orthostatic hypotension OMIM:606721
Galactokinase Deficiency
Hypercholesterolemia, Increased level of galactitol in plasma, Psychomotor deterioration, Hyperga... ORPHA:79237
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypertriglyceridemia, Hepatosplenomegaly, Hypoalbuminemia, Microcytic anemia OMIM:619013
Celiac Disease, Susceptibility To, 1
Iron deficiency anemia, Hypocalcemia, Thrombocytosis, Steatorrhea, Anxiety, Macrocytic anemia OMIM:212750
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Elevated creatine kinase after exercise, Hypercalcemia ORPHA:284426
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypocalcemia, Hypoproteinemia, Atrial septal defect, Dilated cardiomyopathy, Patent foramen ovale... ORPHA:26793
Hepatocellular Carcinoma
Thrombocytosis, Polycythemia, Hyperbilirubinemia, Hyponatremia, Emotional lability, Thrombocytope... ORPHA:88673
Hypomagnesemia 1, Intestinal
Hypomagnesemia, Hypocalcemia OMIM:602014
Syndromic Diarrhea
Atrial septal defect, Thrombocytosis, Abnormality of iron homeostasis, Ventricular septal defect,... ORPHA:84064
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Thrombocytosis, Leukocytosis, Lymphopenia, Pancytopenia, Splenomegaly, Elevated circulating C-rea... OMIM:615688
Hyperparathyroidism, Neonatal Severe
Hypophosphatemia, Calcinosis, Hypercalcemia, Anemia, Splenomegaly OMIM:239200
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death OMIM:273680
Pseudohypoparathyroidism, Type Ii
Hypocalcemia, Hyperphosphatemia OMIM:203330
Hyperparathyroidism 2 With Jaw Tumors
Hypercalcemia OMIM:145001
Galloway-Mowat Syndrome 8
Hypoalbuminemia OMIM:618349
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Hypocalcemia OMIM:619073
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia ORPHA:54370
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypercholesterolemia, Abnormal circulating alanine concentration, Hyperthreoninemia, Abnormal cir... ORPHA:247598
Cernunnos-Xlf Deficiency
T lymphocytopenia, Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia ORPHA:169079
Hereditary Pheochromocytoma-Paraganglioma
Palpitations, Tremor, Hypertension associated with pheochromocytoma, Positive regitine blocking t... ORPHA:29072
Autoerythrocyte Sensitization Syndrome
Thrombocytosis, Impaired platelet adhesion, Autoimmune thrombocytopenia, Self-injurious behavior,... ORPHA:324636
Monosomy 13Q34
Hematochezia, Epistaxis, Posteriorly rotated ears, Pulmonic stenosis, Infantile hypercalcemia, Ab... ORPHA:96168
Ataxia With Vitamin 3 Deficiency
Xanthelasma, Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration OMIM:277460
Uremic Pruritus
Hypercalcemia, Hypermagnesemia, Renal hypophosphatemia, Increased blood urea nitrogen ORPHA:94059
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypoalbuminemia OMIM:617156
Mastocytosis
Chronic leukemia, Hypercalcemia, Splenomegaly, Mastocytosis, Acute leukemia ORPHA:98292
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Immunodeficiency 50
Lymphopenia, Neutropenia OMIM:300988
Familial Parathyroid Adenoma
Hypophosphatemia, Mitral valve calcification, Hypercalcemia, Left ventricular hypertrophy, Aortic... ORPHA:99877
Fibronectin Glomerulopathy
Hypoalbuminemia ORPHA:84090
Congenital Enterocyte Heparan Sulfate Deficiency
Hypoalbuminemia, Abnormal circulating polysaccharide concentration, Abnormal circulating protein ... ORPHA:103910
Congenital Lethal Erythroderma
Hypoalbuminemia ORPHA:1954
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Self-mutilation, Tremor, Aggressive behavior, Complete atrioventricular canal defect, Hypercalcemia ORPHA:476126
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemia, Hypophosphatemic rickets, Hypercalcemia OMIM:612089
Hypercholesterolemia, Familial, 3
Abnormal LDL cholesterol concentration, Hypercholesterolemia, Xanthelasma OMIM:603776
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypocalcemia, Hypoproteinemia, Splenomegaly, Ventricular septal defect OMIM:235255
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypomagnesemia, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:2239
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Increased circulating ferritin concentration, T lymphocytopenia, Endocardial fibroelastosis, Peri... OMIM:619313
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hypercalcemia, Hyperphosphatemia OMIM:617994
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Atrial septal defect, EEG with spike-wave complexes, Abnormal heart morphology, Restrictive cardi... ORPHA:369837
Oculoskeletodental Syndrome
Hypocalcemia, Hypercalcemia, Splenomegaly OMIM:618440
Wolcott-Rallison Syndrome
Iron deficiency anemia, Lymphocytosis, Atrial septal defect, Hyperbilirubinemia, Hyponatremia, Ne... ORPHA:1667
Late-Onset Isolated Acth Deficiency
Decreased circulating cortisol level, Hyponatremia, Hyperuricemia, Normocytic anemia, Hypercalcem... ORPHA:199299
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Infantile Myofibromatosis
Hypercalcemia ORPHA:2591
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Splenome... ORPHA:444463
Johanson-Blizzard Syndrome
Abnormal cardiac septum morphology, Dextrocardia, Hypoproteinemia, Anemia ORPHA:2315
Nephrotic Syndrome, Type 22
Hypoproteinemia OMIM:619155
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypercholesterolemia, Hypoalbuminemia, Hypertriglyceridemia, Abnormal circulating lipid concentra... ORPHA:567548
Hypercholesterolemia, Familial, 2
Hypercholesterolemia, Increased LDL cholesterol concentration, Xanthelasma OMIM:144010
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Abcd Syndrome
Hearing impairment, Abnormal auditory evoked potentials, Aganglionic megacolon OMIM:600501
Hypocalcemia, Autosomal Dominant 1
Hypomagnesemia, Hypocalcemia, Hypokalemia, Increased circulating renin level OMIM:601198
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia ORPHA:254531
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Hemophagocytosis, Neutropenia, Thrombocytopenia, Hy... ORPHA:540
Galloway-Mowat Syndrome 7
Dilated cardiomyopathy, Hypercholesterolemia, Ventricular septal defect OMIM:618348
Hyperlipoproteinemia, Type I
Hypercholesterolemia, Increased circulating chylomicron concentration, Splenomegaly, Lactescent s... OMIM:238600
Amoebiasis Due To Entamoeba Histolytica
Lung abscess, Constrictive pericarditis, Leukocytosis, Abnormal pericardium morphology, Hypoalbum... ORPHA:67
Double Outlet Right Ventricle
Hypocalcemia, Truncus arteriosus, Ventricular septal defect, Pulmonic stenosis, Heart murmur, Dou... ORPHA:3426
Osteopetrosis, Autosomal Recessive 5
Hypocalcemia, Extramedullary hematopoiesis, Hyperbilirubinemia, Pancytopenia, Thrombocytopenia, A... OMIM:259720
Autosomal Dominant Hypophosphatemic Rickets
Hypophosphatemia, Hypocalcemia, Iron deficiency anemia, Tooth abscess ORPHA:89937
Glucose-Galactose Malabsorption
Hypernatremia, Hypercalcemia ORPHA:35710
Congenital Generalized Lipodystrophy
Hypercholesterolemia, Hypertriglyceridemia, Increased C-peptide level, Congestive heart failure, ... ORPHA:528
Autoimmune Hypoparathyroidism
Hypocalcemia, Hypocalcemic tetany, Irritability, Anxiety, Hyperphosphatemia, Hypocalcemic seizures ORPHA:36913
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypercalcemia OMIM:145980
Galloway-Mowat Syndrome 6
Hypoalbuminemia OMIM:618347
Colchicine Poisoning
Hypophosphatemia, Hypocalcemia, Cardiogenic shock, Arrhythmia, Hypovolemia, Hypotension, Hyponatr... ORPHA:31824
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemia, Hyperphosphatemia OMIM:146200
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Sensorineural hearing impairment, EEG abnormality, Facial palsy OMIM:617519
Blackfan-Diamond Anemia
Elevated red cell adenosine deaminase level, Erythroid hypoplasia, Atrial septal defect, Pure red... ORPHA:124
Nephrotic Syndrome, Type 8
Hypoalbuminemia OMIM:615244
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Hypercalcemia OMIM:145981
Pheochromocytoma
Positive regitine blocking test, Episodic hypertension, Cerebral hemorrhage, Hypercalcemia, Conge... OMIM:171300
Avian Influenza
Lymphopenia, Thrombocytopenia, Hypoalbuminemia, Leukopenia, Elevated circulating C-reactive prote... ORPHA:454836
Reticular Dysgenesis
Congenital agranulocytosis, Lymphopenia, Leukopenia, Hypoplasia of the thymus OMIM:267500
Lymphoproliferative Syndrome 1
Increased circulating ferritin concentration, Autoimmune thrombocytopenia, Autoimmune hemolytic a... OMIM:613011
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypocalcemia, Hypoproteinemia, Ventricular septal defect, Splenomegaly, Hepatosplenomegaly ORPHA:1655
Thymic Neuroendocrine Tumor
Hypercalcemia, Increased circulating cortisol level ORPHA:97289
Acute Adrenal Insufficiency
Decreased circulating cortisol level, Hyponatremia, Hyperuricemia, Increased circulating renin le... ORPHA:95409
Pseudohypoparathyroidism, Type Ib
Hypocalcemia, Hyperphosphatemia OMIM:603233
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Hypercholesterolemia, Hyperglutaminemia, Leukopenia... ORPHA:470
Metaphyseal Chondrodysplasia, Jansen Type
Hypophosphatemia, Hearing impairment, Hypercalcemia OMIM:156400
Lymphoid System Deterioration, Progressive
Abnormal T cell morphology, Lymphopenia OMIM:247630
Albers-Schönberg Osteopetrosis
Hypocalcemia, Abnormal leukocyte morphology, Anemia ORPHA:53
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia OMIM:200900
Laron Syndrome
Hypercholesterolemia ORPHA:633
Brucellosis
Lung abscess, Thrombocytosis, Endocarditis, Pericarditis, Leukocytosis, Abnormal aortic valve mor... ORPHA:1304
2P21 Microdeletion Syndrome
Low-set, posteriorly rotated ears, Hypocalcemia ORPHA:163693
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hypercholesterolemia, Abnormal heart morphology, Hypertriglyceridemia, Ventricular septal hypertr... ORPHA:370
X-Linked Agammaglobulinemia
Hypocalcemia, Neutropenia, Thrombocytopenia, Recurrent cutaneous abscess formation, Anemia ORPHA:47
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Lymphopenia, Plasmacytosis OMIM:247800
Mucopolysaccharidosis-Plus Syndrome
Atrial septal defect, Neutropenia, Thrombocytopenia, Splenomegaly, Hypoalbuminemia, Leukopenia, A... OMIM:617303
Immunodeficiency 52
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Lymphopenia, Increased proportion ... OMIM:617514
Chronic Bilirubin Encephalopathy
Hypernatremia, Neonatal hyperbilirubinemia, Hemolytic anemia, Hypoalbuminemia ORPHA:529808
Acute Bilirubin Encephalopathy
Hypernatremia, Neonatal hyperbilirubinemia, Hemolytic anemia, Hypoalbuminemia ORPHA:529799
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypophosphatemia, Hypermagnesemia, Hypercalcemia OMIM:600740
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypercholesterolemia, Ventricular hypertrophy, Mitral valve calcification, Intracranial hemorrhag... ORPHA:363618
Autosomal Dominant Optic Atrophy Plus Syndrome
Temporal optic disc pallor, Absent brainstem auditory responses, Sensorineural hearing impairment... ORPHA:1215
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Abnormal motor evoked pote... ORPHA:320401
Idiopathic Hypereosinophilic Syndrome
Thrombocytosis, Dementia, Leukocytosis, Thrombocytopenia, Neutrophilia, Anemia, Splenomegaly, Dil... ORPHA:3260
Pseudohypoparathyroidism Type 1B
Hypocalcemia, Hypocalcemic tetany, Irritability, Anxiety, Hyperphosphatemia, Hypocalcemic seizures ORPHA:94089
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Thrombocytopenia, Hyperbilirubinemia, Hypoalbuminemia, Splenomegaly OMIM:251880
Addison Disease
Thiamine-responsive megaloblastic anemia, Decreased circulating cortisol level, Hyponatremia, Hyp... ORPHA:85138
Immunodeficiency 21
Myeloid leukemia, Monocytopenia, Abnormal natural killer cell morphology, Lymphopenia, Neutropeni... OMIM:614172
Poems Syndrome
Pericardial effusion, Thrombocytosis, Polycythemia ORPHA:2905
Familial Hypocalciuric Hypercalcemia
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Infantile hypercalcemia, Hypocalcemic sei... ORPHA:405
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Progressive sensorineural hearing impairment, Abnormal auditory evoked potentials, Optic atrophy OMIM:125250
Congenital Disorder Of Glycosylation, Type Ib
Hypoalbuminemia OMIM:602579
Osteopetrosis, Autosomal Recessive 1
Hypocalcemia, Pancytopenia, Thrombocytopenia, Anemia, Splenomegaly OMIM:259700
Bacterial Toxic-Shock Syndrome
Hypocalcemia, Elevated circulating creatinine concentration, Increased circulating metamyelocyte ... ORPHA:36234
Diarrhea 10, Protein-Losing Enteropathy Type
Hypocalcemia, Pericardial effusion, Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypomagn... OMIM:618183
Ring Chromosome 10 Syndrome
Hypocalcemia, Abnormality of the antihelix, Aganglionic megacolon, Large earlobe ORPHA:1438
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Anemia, Splenomegaly, Elevated circulating creatine k... ORPHA:264580
Autosomal Recessive Kenny-Caffey Syndrome
Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures ORPHA:93324
Kenny-Caffey Syndrome, Type 1
Hypomagnesemia, Hypocalcemia, Anemia OMIM:244460
Pancreatic insufficiency, combined exocrine
Hypoproteinemia OMIM:260450
Mitochondrial Trifunctional Protein Deficiency
Hypocalcemia, Arrhythmia, Tricuspid regurgitation, Congestive heart failure, Left ventricular hyp... ORPHA:746
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypomagnesemia, Hypocalcemia, Hypokalemia, Anemia OMIM:175500
Diamond-Blackfan Anemia 1
Elevated red cell adenosine deaminase level, Atrial septal defect, Thrombocytosis, Ventricular se... OMIM:105650
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Iron deficiency anemia, Hypocalcemia, Reduced proportion of CD4-negative, CD8-negative, alpha-bet... ORPHA:37042
Lysosomal Acid Lipase Deficiency
Xanthelasma, Hypercholesterolemia, Bone-marrow foam cells, Vacuolated lymphocytes, Psychomotor de... ORPHA:275761
Transcobalamin Deficiency
Thrombocytopenia, Lymphopenia, Pancytopenia, Neutropenia ORPHA:859
Immunodeficiency 76
T lymphocytopenia, Lymphopenia, B lymphocytopenia, Splenomegaly OMIM:619164
Familial Thrombocytosis
Acute myeloid leukemia, Chronic myelogenous leukemia, Thrombocytosis, Splenomegaly ORPHA:71493
Abetalipoproteinemia
Hypotriglyceridemia, Reticulocytosis, Hyperbilirubinemia, Steatorrhea, Hypocholesterolemia, Decre... ORPHA:14
Al Amyloidosis
Monoclonal light chain cardiac amyloidosis, Abnormal heart morphology, Increased circulating NT-p... ORPHA:85443
S-Adenosylhomocysteine Hydrolase Deficiency
Abnormal circulating homocysteine concentration, Hypermethioninemia, Abnormal circulating methion... ORPHA:88618
Tubular Renal Disease-Cardiomyopathy Syndrome
Hypocalcemia, Dilated cardiomyopathy, Pericardial effusion, Hypocalcemic tetany, Hyperaldosteroni... ORPHA:73224
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Dilated cardiomyopathy, Hepatosplenomegaly, Abnormal cardiomyocyte morphology, Hypoalbuminemia ORPHA:367
Hypotonia-Cystinuria Syndrome
Posteriorly rotated ears, Hypocalcemia, Facial palsy, Macrotia OMIM:606407
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Hypercholesterolemia ORPHA:96184
Familial Isolated Hypoparathyroidism
Hypocalcemia, Arrhythmia ORPHA:2238
Immunodeficiency 13
T lymphocytopenia, Lymphopenia, Decreased proportion of CD4-positive helper T cells, Decreased CD... OMIM:615518
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Prolonged brainstem... OMIM:601596
Vipoma
Normochromic anemia, Hypokalemia, Hypercalcemia, Increased circulating cortisol level ORPHA:97282
Dahlberg-Borer-Newcomer Syndrome
Hypocalcemia, Mitral valve prolapse ORPHA:1563
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Decreased plasma carnitine, Decreased serum iron, Decreased serum zinc, Hypoalbuminemia, Anxiety,... ORPHA:89842
Somatostatinoma
Hypochromic microcytic anemia, Hypercalcemia, Increased circulating cortisol level, Steatorrhea ORPHA:97283
Juvenile Polyposis Syndrome
Hypokalemia, Hypoalbuminemia, Anemia OMIM:174900
Charcot-Marie-Tooth Disease, Type 4D
Hearing impairment, Abnormal auditory evoked potentials, Decreased nerve conduction velocity OMIM:601455
Cogan Syndrome
Leukocytosis, Thrombocytosis, Anemia ORPHA:1467
Glucagonoma
Increased circulating cortisol level, Steatorrhea, Normochromic anemia, Hypercalcemia, Acanthocyt... ORPHA:97280
Smith-Magenis Syndrome
Hypercholesterolemia, Self-injurious behavior, Hypertriglyceridemia, Anxiety ORPHA:819
Fibrous Dysplasia Of Bone
Hypophosphatemia, Hearing impairment, Hypercalcemia, Increased circulating cortisol level ORPHA:249
Dysbetalipoproteinemia
Xanthelasma, Hypercholesterolemia, Angina pectoris, Hypertriglyceridemia, Decreased HDL cholester... ORPHA:412
Megalocornea-Intellectual Disability Syndrome
Hypercholesterolemia, Sensorineural hearing impairment, EEG abnormality, Protruding ear ORPHA:2479
Noonan Syndrome 12
Thrombocytopenia, Tetralogy of Fallot, Lymphopenia, Ventricular septal defect OMIM:618624
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Lymphopenia, Eosinophilia ORPHA:2582
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration ORPHA:209902
Bartter Syndrome, Type 1, Antenatal
Increased circulating renin level, Increased serum prostaglandin E2, Hyperaldosteronism, Hypokale... OMIM:601678
Primary Parathyroid Hyperplasia
Hypophosphatemia, Shortened QT interval, Hypercalcemia ORPHA:99878
Purine Nucleoside Phosphorylase Deficiency
Autoimmune thrombocytopenia, Hypouricemia, Autoimmune hemolytic anemia, Decreased proportion of C... ORPHA:760
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Hypocalcemia, Mental deterioration OMIM:618476
Purine Nucleoside Phosphorylase Deficiency
Tremor, Pure red cell aplasia, Increased circulating guanosine concentration, Autoimmune thromboc... OMIM:613179
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Atrial septal defect, Abnormal heart morphology, Thrombocytopenia, Hypoalbuminemia, Leukopenia, A... ORPHA:505248
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Hypoalbuminemia OMIM:614441
Congenital Disorder Of Glycosylation, Type Ig
Patent foramen ovale, Hypocalcemia, Sensorineural hearing impairment, Abnormality of the pinna OMIM:607143
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Increased circulating ferritin concentration, Vestibular areflexia, Absent brainstem auditory res... ORPHA:3240
Multiple Endocrine Neoplasia, Type I
Hypercalcemia, Increased circulating cortisol level OMIM:131100
Mandibuloacral Dysplasia
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating free fatty acid level ORPHA:2457
Renal Tubular Acidosis, Distal, 1
Hypocalcemia OMIM:179800
Mohr-Tranebjaerg Syndrome
Tremor, Absent brainstem auditory responses, Sensorineural hearing impairment, Abnormal cochlea m... ORPHA:52368
Autoinflammatory Syndrome, Familial, Behcet-Like
Thrombocytopenia, Lymphopenia, Hemolytic anemia OMIM:616744
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:241410
Hyperparathyroidism-Jaw Tumor Syndrome
Infantile hypercalcemia, Shortened QT interval, Hypercalcemia, Hypophosphatemia ORPHA:99880
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphocytosis, T lymphocytopenia, Decreased proportion of CD8-positive T cells, Autoimmune thromb... ORPHA:169154
Homozygous Familial Hypercholesterolemia
Hypercholesterolemia, Myocardial steatosis, Angina pectoris, Abnormal left ventricular function, ... ORPHA:391665
Megalocornea-Mental Retardation Syndrome
Hypercholesterolemia, Large fleshy ears, Cupped ear OMIM:249310
Multiple Endocrine Neoplasia Type 2
Palpitations, Hypertension associated with pheochromocytoma, Hypertensive crisis, Aganglionic meg... ORPHA:653
Leigh Syndrome With Nephrotic Syndrome
Cardiomegaly, Hypoalbuminemia ORPHA:255249
Parathyroid Carcinoma
Infantile hypercalcemia, Shortened QT interval, Hypercalcemia, Hypophosphatemia ORPHA:143
Williams Syndrome
Abnormal endocardium morphology, Abnormal circulating lipid concentration, Sensorineural hearing ... ORPHA:904
Insulin-Resistance Syndrome Type B
Hypotriglyceridemia, Abnormal circulating lipid concentration, Thrombocytopenia, Abnormal circula... ORPHA:2298
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
T lymphocytopenia, Lymphopenia, B lymphocytopenia ORPHA:277
Ppoma
Hypercalcemia, Increased circulating cortisol level, Gastrointestinal hemorrhage ORPHA:97278
Zollinger-Ellison Syndrome
Hypercalcemia, Increased circulating cortisol level, Gastrointestinal hemorrhage, Hematochezia ORPHA:913
Pierson Syndrome
Hypoproteinemia OMIM:609049
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
T lymphocytopenia, Monocytopenia, Lymphopenia, Abnormally low T cell receptor excision circle lev... OMIM:618986
Autosomal Dominant Hypocalcemia
Hypocalcemia, Arrhythmia, Hypotension, Congestive heart failure, Hypomagnesemia, Optic atrophy, H... ORPHA:428
Hypocalcemic Vitamin D-Dependent Rickets
Hypophosphatemia, Hypocalcemia, Irritability, Hypocalcemic seizures ORPHA:289157
Ataxia-Telangiectasia
Cognitive impairment, Tremor, Lymphopenia ORPHA:100
Pearson Syndrome
Hypophosphatemia, Hypocalcemia, Abnormal heart morphology, Reticulocytosis, Neutropenia, Steatorr... ORPHA:699
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Erythroid hypoplasia, Monocytosis, Atrial septal defect, Lymphopenia, Neutropenia, Cor triatriatu... OMIM:612541
Gracile Bone Dysplasia
Hypocalcemia, Hypoplastic spleen, Asplenia OMIM:602361
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Xanthelasma, Hypercholesterolemia, Chronic neutropenia, Hyperuricemia, Hypertriglyceridemia, Abno... ORPHA:79259
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypercholesterolemia, Hypertriglyceridemia OMIM:610644
Grfoma
Hypercalcemia, Increased circulating cortisol level, Gastrointestinal hemorrhage ORPHA:97261
Cholera
Hypocalcemia, Hyponatremia, Abnormal blood ion concentration, Hypokalemia, Irritability ORPHA:173
Hypophosphatemic Rickets
Hypophosphatemia, Tooth abscess, Hypercalcemia, Periapical tooth abscess ORPHA:437
Kenny-Caffey Syndrome, Type 2
Hypocalcemia, Anemia, Hyperphosphatemia, Transient hypophosphatemia OMIM:127000
Ulnar Agenesis And Endocardial Fibroelastosis
Neonatal death OMIM:276822
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Atrial septal defect, Ventricular septal defect, Pericardial effusion, Hypoalbuminemia, Pericardi... OMIM:235510
Isolated Thyroid-Stimulating Hormone Deficiency
Abnormal circulating thyroglobulin level, Hypercholesterolemia, Neonatal hyperbilirubinemia ORPHA:90674
Hypocalcemic Vitamin D-Resistant Rickets
Hypophosphatemia, Hypocalcemia ORPHA:93160
Rajab Interstitial Lung Disease With Brain Calcifications 1
Pancytopenia, Hypocalcemia, Hypoalbuminemia, Anemia OMIM:613658
Ethylene Glycol Poisoning
Hypocalcemia, Hypotension, Atrial fibrillation, Hypertension, Congestive heart failure, Tachycard... ORPHA:31826
Gitelman Syndrome
Hypocalcemia, Palpitations, Hypermagnesemia, Primary hyperaldosteronism, Pericardial effusion, Lo... ORPHA:358
Multiple Endocrine Neoplasia Type 4
Hypercalcemia, Increased circulating cortisol level ORPHA:276152
Adult Idiopathic Neutropenia
Monocytosis, Monocytopenia, Neutropenia, Lymphopenia ORPHA:2688
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hypocalcemia, Atrial septal defect, Ventricular septal defect, Hyperbilirubinemia, Thrombocytopen... ORPHA:163979
Acrocraniofacial Dysostosis
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Conductive hearing impairment OMIM:201050
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Leukocytosis, Hypochromic anemia, Thrombocytosis, Perianal abscess OMIM:618213
Pseudohypoparathyroidism Type 1C
Hypocalcemia, Hypocalcemic tetany, Calcinosis, Irritability, Anxiety, Hyperphosphatemia, Hypocalc... ORPHA:79444
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response, EEG with temporal focal spikes ORPHA:163985
Immunodeficiency 31C
Autoimmune hemolytic anemia, Lymphopenia OMIM:614162
Juvenile Polyposis Of Infancy
Atrial septal defect, Abnormal heart morphology, Hypoalbuminemia, Refractory anemia, Anemia ORPHA:79076
Adult-Onset Autosomal Dominant Leukodystrophy
Tremor, Autonomic bladder dysfunction, Orthostatic hypotension, Head titubation, Action tremor, A... ORPHA:99027
Multiple Endocrine Neoplasia Type 1
Increased circulating cortisol level, Hematemesis, Shortened QT interval, Primary hypercortisolis... ORPHA:652
Williams-Beuren Syndrome
Atrial septal defect, Coronary artery stenosis, Ventricular septal defect, Portal hypertension, H... OMIM:194050
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Progressive sensorineural hearing impairment, Hypocalcemia, Hypocalcemic seizures, Abnormal heart... ORPHA:2237
Stiff-Person Syndrome
Agoraphobia, Opisthotonus, Exaggerated startle response, Anxiety, Anemia OMIM:184850
Late-Infantile/Juvenile Krabbe Disease
Tremor, Prolonged brainstem auditory evoked potentials, EEG with persistent abnormal rhythmic act... ORPHA:206443
Pseudohypoparathyroidism, Type Ic
Hypocalcemic tetany, Cognitive impairment, Hyperphosphatemia OMIM:612462
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Atrial septal defect, Dilated cardiomyopathy, Myocardial fibrosis, Pulmonic stenosis, Exaggerated... OMIM:253800
Proteasome-Associated Autoinflammatory Syndrome 3
Lymphopenia, Thrombocytopenia, Hypertriglyceridemia, Anemia, Splenomegaly OMIM:617591
Lipodystrophy, Familial Partial, Type 2
Hypercholesterolemia, Hypertriglyceridemia, Hypertension, Decreased HDL cholesterol concentration OMIM:151660
Sarcoidosis
Hemolytic anemia, Increased T cell count, Thrombocytopenia, Hypercalcemia, Anemia, Leukopenia, Eo... ORPHA:797
Velocardiofacial Syndrome
Hypocalcemia, Aggressive behavior, Ventricular septal defect, Tetralogy of Fallot, Mood swings OMIM:192430
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:109120
Ataxia-Telangiectasia
T lymphocytopenia, Tremor, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Elev... OMIM:208900
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Autoimmune hemolytic anemia, Decreased proportion of CD3-positive T cells, Lymphopenia, Abnormal ... ORPHA:331206
Mirage Syndrome
Lymphopenia, Hyponatremia, Thrombocytopenia, Anemia, Leukopenia, Hypoplastic spleen, Hyperkalemia OMIM:617053
Sanjad-Sakati Syndrome
Hypocalcemia, Hyperphosphatemia ORPHA:2323
Cartilage-Hair Hypoplasia
Hypocalcemia, Neutropenia, Anemia, Cognitive impairment, Abnormal cardiac septum morphology, Card... ORPHA:175
Craniofacioskeletal Syndrome
Hypocalcemia, Atrial septal defect, Ventricular septal defect, Posteriorly rotated ears, Microtia OMIM:300712
Oncogenic Osteomalacia
Hypophosphatemia, Hypocalcemia ORPHA:352540
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Elevated circulating creatine kinase concentration, Hypoalbuminemia OMIM:619055
Leukocyte Adhesion Deficiency
Impaired platelet aggregation, Thrombocytosis, Leukocytosis, Polycythemia, Impaired neutrophil ch... ORPHA:2968
Pseudohypoparathyroidism Type 1A
Hypocalcemia, Hypocalcemic tetany, Calcinosis, Irritability, Anxiety, Abnormal platelet function,... ORPHA:79443
Mend Syndrome
Abnormal heart morphology, Elevated 8-dehydrocholesterol, Aortic valve stenosis, Abnormal auditor... ORPHA:401973
Infection-Related Hemolytic Uremic Syndrome
Hypocalcemia, Hemolytic anemia, Leukocytosis, Hyponatremia, Thrombocytopenia, Myocarditis, Brain ... ORPHA:544482
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Tay-Sachs Disease
Apathy, Psychomotor deterioration, Dementia, Exaggerated startle response OMIM:272800
Pseudohypoparathyroidism, Type Ia
Hypocalcemic tetany, Cognitive impairment, Hyperphosphatemia OMIM:103580
Autosomal Dominant Severe Congenital Neutropenia
Monocytosis, Lymphopenia, Leukemia, Neutropenia, Acute myeloid leukemia, Aplastic anemia, Acute l... ORPHA:486
Autosomal Recessive Malignant Osteopetrosis
Hypophosphatemia, Hypocalcemia, Tremor, Abnormal pulmonary valve morphology, Hearing impairment, ... ORPHA:667
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia, Increased mean corpuscular volume OMIM:618849
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Hypoalbuminemia, Anemia ORPHA:79396
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Lymphopenia, Irritability, Aggressive behavior ORPHA:391307
Primary Biliary Cholangitis
Hypoalbuminemia, Conjugated hyperbilirubinemia, Abnormal circulating lipid concentration ORPHA:186
Legionnaires Disease
Endocarditis, Pericarditis, Lymphopenia, Hyponatremia, Splenomegaly, Myocarditis ORPHA:549
Stiff Person Spectrum Disorder
Exaggerated startle response, Agoraphobia, Anxiety, Emotional lability ORPHA:3198
Gm2 Gangliosidosis, Ab Variant
Cognitive impairment, Exaggerated startle response, Anxiety, Abnormal fear/anxiety-related behavior ORPHA:309246
Cockayne Syndrome Type 1
Tremor, Increased blood urea nitrogen, Macrotia, Hypertension, Hearing impairment, Absent brainst... ORPHA:90321
Oculocerebrorenal Syndrome Of Lowe
Hypophosphatemia, Hypoammonemia, Hypercholesterolemia, Self-injurious behavior, Hyponatremia, Hyp... ORPHA:534
Schimke Immuno-Osseous Dysplasia
Abnormal proportion of naive CD4 T cells, Lymphopenia, Decreased proportion of naive CD8 T cells,... ORPHA:1830
Alagille Syndrome 1
Hypercholesterolemia, Atrial septal defect, Ventricular septal defect, Macrotia, Hypertriglycerid... OMIM:118450
Juvenile Nephropathic Cystinosis
Hypophosphatemia, Hypocalcemia, Hypovolemia, Hypouricemia, Elevated circulating creatinine concen... ORPHA:411634
Sotos Syndrome
Tremor, Atrial septal defect, Aggressive behavior, Abnormal heart morphology, Ventricular septal ... ORPHA:821
Galloway-Mowat Syndrome 3
Hypoalbuminemia OMIM:617729
Charcot-Marie-Tooth Disease Type 1F
Head tremor, Absent brainstem auditory responses, Sensorineural hearing impairment, Optic nerve h... ORPHA:101085
Exercise-Induced Malignant Hyperthermia
Hypocalcemia, Thrombocytopenia, Elevated circulating creatine kinase concentration, Hyperkalemia,... ORPHA:466650
Short Stature, Microcephaly, And Endocrine Dysfunction
Dilated cardiomyopathy, Lymphopenia, Abnormal circulating lipid concentration, Anemia, Cognitive ... OMIM:616541
Hennekam Syndrome
Hypocalcemia, Pericardial effusion, Lymphopenia, Splenomegaly ORPHA:2136
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hypoalbuminemia, Hyperlipidemia ORPHA:567546
Doors Syndrome
Double outlet right ventricle, Thrombocytosis ORPHA:79500
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Abnormal heart rate variability, Opisthotonus, He... ORPHA:206436
Pediatric Systemic Lupus Erythematosus
Microangiopathic hemolytic anemia, Pericardial effusion, Lymphopenia, Thrombocytopenia, Leukopeni... ORPHA:93552
Visceral Steatosis, Congenital
Hypocalcemia, Myocardial steatosis OMIM:228100
Arthrogryposis, Distal, Type 2A
Hearing impairment, Abnormal auditory evoked potentials OMIM:193700
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Optic disc pallor OMIM:619260
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of CD3-positive T cells, Decreased proportion of CD4-positive helper T cells... ORPHA:276
Cyclic Neutropenia
Decreased eosinophil count, Lymphopenia, Tooth abscess, Thrombocytopenia, Perianal abscess, Cycli... ORPHA:2686
Pgm3-Cdg
T lymphocytopenia, Abnormal CD4:CD8 ratio, Cutaneous abscess, Hemolytic anemia, Decreased proport... ORPHA:443811
Macrocephaly/Autism Syndrome
Lymphopenia, Splenomegaly OMIM:605309
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response, Optic atrophy, Optic disc pallor OMIM:609541
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Noncompaction cardiomyopathy, Lymphopenia, Neutropenia, Reticulocytopenia, Thrombocytopenia, B ly... ORPHA:508542
Schimke Immunoosseous Dysplasia
Lymphopenia, Neutropenia, Thrombocytopenia, Abnormal T cell morphology, Anemia OMIM:242900
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
22Q11.2 Deletion Syndrome
Hypocalcemia, Tricuspid atresia, Atrial septal defect, Truncus arteriosus, Small earlobe, Gastroi... ORPHA:567
Trisomy 10P
Low voltage EEG, Macrotia, Abnormal heart morphology, EEG with burst suppression, Posteriorly rot... ORPHA:171929
Galloway-Mowat Syndrome 1
Hypoalbuminemia OMIM:251300
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, EEG abnormality ORPHA:206448
Tropical Endomyocardial Fibrosis
Coronary artery stenosis, Restrictive cardiomyopathy, Myocardial calcification, Left atrial enlar... ORPHA:75565
Immunodeficiency 36
Lymphopenia, Chronic lymphatic leukemia, Splenomegaly OMIM:616005
Sandhoff Disease
Exaggerated startle response, Cardiomegaly, Orthostatic hypotension OMIM:268800
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased proportion of CD3-positive T cells, Hepatosplenomegaly, Eosinophilia, Lymphopenia ORPHA:169160
Steinert Myotonic Dystrophy
Hypercholesterolemia, Cardiac conduction abnormality, Prolonged QRS complex, Left ventricular sys... ORPHA:273
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Lymphopenia, Impaired oxidative burst, Granuloma, Perianal abscess, Splenomegal... OMIM:618935
Cerebrotendinous Xanthomatosis
Abnormal atrial septum morphology, Abnormal motor evoked potentials, Resting tremor, Abnormal aud... ORPHA:909
Tay-Sachs Disease
Tremor, Increased serum beta-hexosaminidase, Exaggerated startle response, Anxiety, Memory impair... ORPHA:845
Lowe Oculocerebrorenal Syndrome
Hypercholesterolemia, Elevated amniotic fluid alpha-fetoprotein, Aggressive behavior, Bicarbonatu... OMIM:309000
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Severe B lymphocytopenia, Aplasia of the thymus, Autoimmune thrombocytopenia, Autoimmune hemolyti... OMIM:102700
Autoimmune Lymphoproliferative Syndrome, Type V
Autoimmune hemolytic anemia, Lymphopenia, Autoimmune thrombocytopenia, Splenomegaly OMIM:616100
Juvenile Polyposis Syndrome
Hypoproteinemia, Brain abscess, Anemia ORPHA:2929
Popov-Chang syndrome
Pulmonic stenosis, Self-injurious behavior, Lymphopenia OMIM:618428
Immunodeficiency 49
Lymphopenia, Eosinophilia OMIM:617237
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response, Optic atrophy, Optic disc pallor ORPHA:320406
Primary Sclerosing Cholangitis
Hepatosplenomegaly, Hypoalbuminemia, Splenomegaly ORPHA:171
Gm2-Gangliosidosis, Ab Variant
Apathy, Exaggerated startle response, Dementia OMIM:272750
T-Cell Immunodeficiency With Thymic Aplasia
Abnormal T cell morphology, Lymphopenia, Aplasia of the thymus, Hepatosplenomegaly OMIM:242700
Asparagine Synthetase Deficiency
Exaggerated startle response, Macrotia, Hypsarrhythmia OMIM:615574
Spastic Tetraplegia And Axial Hypotonia, Progressive
Low-set, posteriorly rotated ears, Exaggerated startle response OMIM:618598
Cockayne Syndrome A
Tremor, Arrhythmia, Abnormality of the pinna, Hypertension, Abnormal auditory evoked potentials, ... OMIM:216400
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Hypoplasia of the semicircular canal, Abnormal autonomic nervous system physiology, Long-segment ... OMIM:609136
Cranioectodermal Dysplasia 1
Hypocalcemia, Bicuspid aortic valve OMIM:218330
Cartilage-Hair Hypoplasia
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Congenital hypoplastic a... OMIM:250250
Gm1 Gangliosidosis Type 1
Hearing impairment, Exaggerated startle response, Cardiomyopathy, Macrotia ORPHA:79255
Cockayne Syndrome B
Tremor, Arrhythmia, Abnormality of the pinna, Hypertension, Abnormal auditory evoked potentials, ... OMIM:133540
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Autosomal Dominant Kenny-Caffey Syndrome
Hypocalcemic tetany, Anemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:93325
Icf Syndrome
Abnormality of neutrophils, Lymphopenia, Anemia ORPHA:2268
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
T lymphocytopenia, Lymphopenia, Absent natural killer cells, Impaired lymphocyte transformation w... OMIM:600802
Autoimmune Lymphoproliferative Syndrome
Coombs-positive hemolytic anemia, Lymphocytosis, Elevated proportion of CD4-negative, CD8-negativ... ORPHA:3261
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Dyskeratosis Congenita, Autosomal Dominant 1
Thrombocytopenia, Lymphopenia, Aplastic anemia, Anemia OMIM:127550
Charge Syndrome
Hypocalcemia, Atrial septal defect, Ventricular septal defect, Pulmonic stenosis, Cupped ear, Dou... OMIM:214800