Autoimmunity, and Pallor

Diseases related with Autoimmunity and Pallor

In the following list you will find some of the most common rare diseases related to Autoimmunity and Pallor that can help you solving undiagnosed cases.


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Medium match DEHYDRATED HEREDITARY STOMATOCYTOSIS 1 WITH OR WITHOUT PSEUDOHYPERKALEMIA AND/OR PERINATAL EDEMA; DHS1


Dehydrated hereditary stomatocytosis (DHS), also known as hereditary xerocytosis, is an autosomal dominant hemolytic anemia characterized by primary erythrocyte dehydration. DHS erythrocytes exhibit decreased total cation and potassium content that are not accompanied by a proportional net gain of sodium and water. DHS patients typically exhibit mild to moderate compensated hemolytic anemia, with an increased erythrocyte mean corpuscular hemoglobin concentration and a decreased osmotic fragility, both of which reflect cellular dehydration (summary by Zarychanski et al., 2012). Patients may also show perinatal edema and pseudohyperkalemia due to loss of K+ from red cells stored at room temperature. A minor proportion of red cells appear as stomatocytes on blood films. Complications such as splenomegaly and cholelithiasis, resulting from increased red cell trapping in the spleen and elevated bilirubin levels, respectively, may occur. The course of DHS is frequently associated with iron overload, which may lead to hepatosiderosis (summary by Albuisson et al., 2013).Dehydrated red blood cells, including those from hereditary xerocytosis patients, show delayed infection rates to Plasmodium in vitro, suggesting a potential protective mechanism against malaria (Tiffert et al., 2005). A polymorphism in PIEZO1 that is enriched in populations of African descent and results in xerocytosis conferred resistance to Plasmodium infection in vitro (see {611184.0016}).The 'leaky red blood cells' in familial pseudohyperkalemia show a temperature-dependent loss of potassium when stored at room temperature, manifesting as apparent hyperkalemia. The red blood cells show a reduced life span in vivo, but there is no frank hemolysis. Studies of cation content and transport show a marginal increase in permeability at 37 degrees C and a degree of cellular dehydration, qualitatively similar to the changes seen in dehydrated hereditary stomatocytosis. Physiologic studies show that the passive leak of potassium has an abnormal temperature dependence, such that the leak is less sensitive to temperature than that in normal cells (summary by Iolascon et al., 1999).Carella et al. (2004) noted that 3 clinical forms of pseudohyperkalemia unassociated with hematologic manifestations, based predominantly on the leak-temperature dependence curve, had been reported: (1) pseudohyperkalemia Edinburgh, in which the curve has a shallow slope; (2) pseudohyperkalemia Chiswick or Falkirk (see {609153}), in which the curve is shouldered; and (3) pseudohyperkalemia Cardiff (see {609153}), in which the temperature dependence of the leak shows a 'U-shaped' profile with a minimum at 23 degrees C. Gore et al. (2004) stated that potassium-flux temperature profiles are consistent both from year to year in an individual as well as consistent within affected members of a pedigree. Genetic Heterogeneity of Hereditary StomatocytosisDehydrated hereditary stomatocytosis-2 (DHS2 ) is caused by mutation in the KCNN4 gene (OMIM ) on chromosome 19q13. Another form of stomatocytosis, involving familial pseudohyperkalemia with minimal hematologic abnormalities (PSHK2 ), is caused by mutation in the ABCB6 gene (OMIM ) on chromosome 2q35. Cryohydrocytosis (CHC ) is caused by mutation in the SLC4A1 gene (OMIM ) on chromosome 17q21, and stomatin-deficient cryohydrocytosis with neurologic defects (SDCHCN ) is caused by mutation in the SLC2A1 gene (OMIM ) on chromosome 1p34. An overhydrated form of hereditary stomatocytosis (OHST ) is caused by mutation in the RHAG gene (OMIM ) on chromosome 6p12.See {137280} for a discussion of the association of familial stomatocytosis and hypertrophic gastritis in the dog, an autosomal recessive syndrome. ReviewsDelaunay (2004) reviewed genetic disorders of red cell membrane permeability to monovalent cations, noting 'inevitable' overlap between entities based on clinical phenotype.Bruce (2009) provided a review of hereditary stomatocytosis and cation-leaky red cells, stating that consistent features include hemolytic anemia, a monovalent cation leak, and changes in red cell morphology that appear to follow a continuum, from normal discocyte to stomatocyte to echinocyte in DHS, and from discocyte to stomatocyte to spherocyte to fragmentation in OHST. Bruce (2009) suggested that the underlying pathologic mechanism might involve misfolded mutant proteins that escape the quality control system of the cell and reach the red cell membrane, where they disrupt the red cell membrane structure and cause a cation leak that alters the hydration of the red cell, thereby changing the morphology and viability of the cell.King and Zanella (2013) provided an overview of 2 groups of nonimmune hereditary red cell membrane disorders caused by defects in membrane proteins located in distinct layers of the red cell membrane: red cell cytoskeleton disorders, including hereditary spherocytosis (see {182900}), hereditary elliptocytosis (see {611804}), and hereditary pyropoikilocytosis (OMIM ); and cation permeability disorders of the red cell membrane, or hereditary stomatocytoses, including DHS, OHST, CHC, and PSHK. The authors noted that because there is no specific screening test for the hereditary stomatocytoses, a preliminary diagnosis is based on the presence of a compensated hemolytic anemia, macrocytosis, and a temperature- or time-dependent pseudohyperkalemia in some patients. King et al. (2015) reported the International Council for Standardization in Haematology (ICSH) guidelines for laboratory diagnosis of nonimmune hereditary red cell membrane disorders.

DEHYDRATED HEREDITARY STOMATOCYTOSIS 1 WITH OR WITHOUT PSEUDOHYPERKALEMIA AND/OR PERINATAL EDEMA; DHS1 Is also known as pseudohyperkalemia, familial, 1, due to red cell leak|pshk1|dhs|dehydrated hereditary stomatocytosis|xerocytosis, hereditary|desiccytosis, hereditary|pseudohyperkalemia edinburgh

Related symptoms:

  • Anemia
  • Hepatomegaly
  • Fever
  • Fatigue
  • Edema


SOURCES: OMIM MENDELIAN

More info about DEHYDRATED HEREDITARY STOMATOCYTOSIS 1 WITH OR WITHOUT PSEUDOHYPERKALEMIA AND/OR PERINATAL EDEMA; DHS1

Medium match COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA; CIMAH


Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia is an inborn error of folate metabolism due to deficiency of methylenetetrahydrofolate dehydrogenase-1. Manifestations may include hemolytic uremic syndrome, macrocytosis, epilepsy, hearing loss, retinopathy, mild mental retardation, lymphopenia involving all subsets, and low T-cell receptor excision circles. Folinic acid supplementation is an effective treatment (summary by Ramakrishnan et al., 2016).

COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA; CIMAH Is also known as methylenetetrahydrofolate dehydrogenase 1 deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Sensorineural hearing impairment
  • Anemia


SOURCES: OMIM MENDELIAN

More info about COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA; CIMAH

Medium match CONGENITAL THROMBOTIC THROMBOCYTOPENIC PURPURA


Congenital thrombotic thrombocytopenic purpura is the hereditary form of thrombotic thrombocytopenic purpura (TTP; see this term) characterized by profound peripheral thrombocytopenia, microangiopathic hemolytic anemia (MAHA) and single or multiple organ failure of variable severity.

CONGENITAL THROMBOTIC THROMBOCYTOPENIC PURPURA Is also known as congenital ttp|microangiopathic hemolytic anemia|thrombotic microangiopathy, familial|microangiopathic hemolytic anemia, congenital|congenital adamts-13 deficiency|upshaw factor, deficiency of|uss|thrombotic thrombocytopenic purpura, familial|familial ttp

Related symptoms:

  • Seizures
  • Pain
  • Anemia
  • Hypertension
  • Fever


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL THROMBOTIC THROMBOCYTOPENIC PURPURA

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Other less relevant matches:

Low match KRABBE DISEASE


Krabbe disease is an autosomal recessive lysosomal disorder affecting the white matter of the central and peripheral nervous systems. Most patients present within the first 6 months of life with 'infantile' or 'classic' disease manifest as extreme irritability, spasticity, and developmental delay (Wenger et al., 2000). There is severe motor and mental deterioration, leading to decerebration and death by age 2 years. Approximately 10 to 15% of patients have a later onset, commonly differentiated as late-infantile (6 months to 3 years), juvenile (3 to 8 years), and even adult-onset forms. The later-onset forms have less disease severity and slower progression. These later-onset patients can be clinically normal until weakness, vision loss and intellectual regression become evident; those with adult onset may have spastic paraparesis as the only symptom. Disease severity is variable, even within families (summary by Tappino et al., 2010).

KRABBE DISEASE Is also known as gcl|galc deficiency|galactosylceramide beta-galactosidase deficiency|globoid cell leukodystrophy|galactocerebrosidase deficiency|globoid cell leukoencephalopathy|gld

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Ataxia


SOURCES: OMIM ORPHANET MENDELIAN

More info about KRABBE DISEASE

Low match WALDENSTRÖM MACROGLOBULINEMIA


Waldenström macroglobulinemia (WM) is an indolent B-cell lymphoproliferative disorder characterized by the accumulation of monoclonal cells in the bone marrow and peripheral lymphoid tissues, and associated with the production of serum immunoglobulin M (IgM) monoclonal protein.

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Neoplasm
  • Anemia
  • Peripheral neuropathy


SOURCES: OMIM ORPHANET MENDELIAN

More info about WALDENSTRÖM MACROGLOBULINEMIA

Low match AUTOIMMUNE POLYENDOCRINOPATHY TYPE 1


Autoimmune polyendocrinopathy type 1, or APECED syndrome, is a genetic disease that manifests in childhood or early adolescence with a combination of chronic mucocutaneous candidiasis, hypoparathyroidism and autoimmune adrenal failure.

AUTOIMMUNE POLYENDOCRINOPATHY TYPE 1 Is also known as autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy|apeced|autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome|autoimmune hypoparathyroidism-chronic candidiasis-addison disease syndrome|apeced syndrome|polyglandular autoimmu

Related symptoms:

  • Seizures
  • Abnormal facial shape
  • Cataract
  • Anemia
  • Visual impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOIMMUNE POLYENDOCRINOPATHY TYPE 1

Low match ALSTRÖM SYNDROME


Alström syndrome (AS) is a multisystemic disorder characterized by cone-rod dystrophy, hearing loss, obesity, insulin resistance and hyperinsulinemia, type 2 diabetes mellitus, dilated cardiomyopathy (DCM; see this term), and progressive hepatic and renal dysfunction.

ALSTRÖM SYNDROME Is also known as alss

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ALSTRÖM SYNDROME

Low match RETINITIS PIGMENTOSA 42; RP42


Related symptoms:

  • Rod-cone dystrophy
  • Pallor
  • Retinal degeneration


SOURCES: OMIM MESH MENDELIAN

More info about RETINITIS PIGMENTOSA 42; RP42

Low match NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1G; CSNB1G


Related symptoms:

  • Blindness
  • Rod-cone dystrophy
  • Pallor
  • Nyctalopia
  • Optic disc pallor


SOURCES: OMIM MENDELIAN

More info about NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1G; CSNB1G

Low match SUDDEN CARDIAC FAILURE, ALCOHOL-INDUCED; SCFAI


Related symptoms:

  • Pain
  • Myopathy
  • Pallor
  • Scarring
  • Myocardial fibrosis


SOURCES: OMIM MENDELIAN

More info about SUDDEN CARDIAC FAILURE, ALCOHOL-INDUCED; SCFAI

Top 5 symptoms//phenotypes associated to Autoimmunity and Pallor

Symptoms // Phenotype % cases
Anemia Uncommon - Between 30% and 50% cases
Vomiting Uncommon - Between 30% and 50% cases
Fever Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Fatigue Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Autoimmunity and Pallor. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Rod-cone dystrophy Hearing impairment Pain Peripheral neuropathy Visual impairment Sensorineural hearing impairment Hypertension Ataxia Weight loss Retinopathy Autoimmune thrombocytopenia Hepatomegaly Nausea Renal insufficiency Diarrhea Visual loss Blindness Optic disc pallor Splenomegaly Hepatitis Cholelithiasis Abnormality of the liver Jaundice

Rare Symptoms - Less than 30% cases


Irritability Elevated serum creatinine Global developmental delay Gastrointestinal hemorrhage Constriction of peripheral visual field Abnormal renal physiology Diabetes insipidus Purpura Lymphadenopathy Nystagmus Malabsorption Nausea and vomiting Skin rash Abnormality of the kidney Proteinuria Abdominal pain Headache Respiratory insufficiency Respiratory distress Anorexia Sinusitis Failure to thrive Behavioral abnormality Photophobia Hypotrichosis Rigidity Reduced visual acuity Diabetes mellitus Otitis media Recurrent respiratory infections Hypogonadism Dilatation Pigmentary retinopathy Hypergonadotropic hypogonadism Alopecia Optic atrophy Chronic diarrhea Constipation Cataract Feeding difficulties Cognitive impairment Myocardial fibrosis Horizontal nystagmus Hypothyroidism Tremor Congestive heart failure Decreased antibody level in blood Female hypogonadism Pneumonia Gastritis Recurrent infections Recurrent urinary tract infections Intellectual disability Chronic active hepatitis Dehydration Retinal degeneration Hyperbilirubinemia Hemolytic anemia Hyperkalemia Ascites Schistocytosis Hemolytic-uremic syndrome Nyctalopia Antinuclear antibody positivity Scarring Reticulocytosis Respiratory failure Elevated hepatic transaminase Pericardial effusion Esophageal varix Cone/cone-rod dystrophy Tachypnea Hypercholesterolemia Hyperlipidemia Pancreatitis Atherosclerosis Sparse hair Acanthosis nigricans Goiter Autistic behavior Respiratory tract infection Type II diabetes mellitus Polycystic ovaries Hyperostosis Myalgia Truncal obesity Urinary urgency Hydroureter Pulmonary fibrosis Emphysema Postnatal growth retardation Polyuria Glucose intolerance Hyperglycemia Acne Abnormality of the hand Impaired vibratory sensation Aplasia/Hypoplasia of the cerebellum Obsessive-compulsive behavior Chronic otitis media Nephritis Polydipsia Portal hypertension Lipodystrophy Hyperinsulinemia Precocious puberty Elevated alkaline phosphatase Cough Pulmonic stenosis Macular degeneration Vesicoureteral reflux Gynecomastia Hyperpigmentation of the skin Hepatic fibrosis Decreased liver function Insulin resistance Abnormality of retinal pigmentation Thickened skin Abnormal retinal morphology Involuntary movements Asthma Recurrent otitis media Sleep disturbance Urinary incontinence Hypertriglyceridemia Round face Growth hormone deficiency Pulmonary arterial hypertension Epidermal acanthosis Decreased testicular size Progressive visual loss Specific learning disability Cyanosis Abdominal distention Nephropathy Dilated cardiomyopathy Dry skin Generalized tonic-clonic seizures Hypermetropia Ophthalmoplegia Cardiomegaly Accelerated skeletal maturation Carious teeth Delayed puberty Infertility Absence seizures Nephrocalcinosis Stage 5 chronic kidney disease Short toe Cirrhosis Tachycardia Hepatic failure Hirsutism Hypogonadotrophic hypogonadism Retinal dystrophy Generalized hirsutism Hepatic steatosis Increased body weight Recurrent pneumonia Left ventricular hypertrophy Myocarditis Chorioretinal atrophy Lumbar scoliosis Abnormality of the pituitary gland Urethral obstruction Squared iliac bones Renovascular hypertension Albuminuria Abnormal muscle tone Impaired temperature sensation Urethral stricture Abnormal chorioretinal morphology Epigastric pain Abnormality of dental color Abnormality of the urethra Hepatic necrosis Chronic infection Abnormal spermatogenesis Decreased glomerular filtration rate Abnormality of the optic disc First degree atrioventricular block Melena Hematemesis Frontal balding Increased total bilirubin Vertical nystagmus Bull's eye maculopathy Multinodular goiter Hypoplastic male external genitalia Chronic hepatic failure Hepatic encephalopathy Unilateral breast hypoplasia Congenital stationary night blindness Abnormality of the femoral head Vitreous haze Localized hirsutism Abnormality of renal calyx morphology Abnormality of prothrombin EEG with occipital slowing Precocious puberty in females Abnormal retinal artery morphology Widely-spaced incisors Recurrent cystitis Glue ear Dilatation of the bladder Facial hirsutism Thickened ears Granular macular appearance Receptive language delay Hyperostosis frontalis interna Abnormal adipose tissue morphology Nonproductive cough Exudative retinopathy Increased circulating androgen level High-frequency sensorineural hearing impairment Childhood-onset truncal obesity Multifocal atrial tachycardia ST segment depression Abnormality of female external genitalia Urethral stenosis Polyphagia Insulin-resistant diabetes mellitus Pendular nystagmus Gingivitis Ketoacidosis Broad foot Posterior subcapsular cataract Oligomenorrhea Poor coordination Hyperventilation Alopecia of scalp Peripheral visual field loss Retinal atrophy Hypoventilation Attenuation of retinal blood vessels Severe sensorineural hearing impairment Thoracic scoliosis Pericarditis Subcapsular cataract Increased number of teeth Hyperuricemia Bronchitis Glycosuria Glomerulopathy Progressive sensorineural hearing impairment Agenesis of permanent teeth Short finger Tubulointerstitial nephritis Right ventricular hypertrophy Achromatopsia Endocardial fibroelastosis Acute pancreatitis Chills Pyelonephritis Poor fine motor coordination Urinary retention Arteriosclerosis Elevated C-reactive protein level Tubulointerstitial fibrosis Testicular atrophy Abnormal left ventricle morphology Disinhibition Retinal pigment epithelial atrophy Abnormal renal morphology Acute hepatic failure Menstrual irregularities Decreased HDL cholesterol concentration Ovarian cyst High-frequency hearing impairment Restrictive cardiomyopathy Chronic obstructive pulmonary disease Chronic fatigue Male hypogonadism Oligospermia Deeply set eye Tubular atrophy Recurrent bronchitis Conductive hearing impairment Chronic sinusitis Hepatosplenomegaly Gait disturbance Abnormality of the cerebral white matter Protruding ear Developmental regression Mental deterioration Muscular hypotonia of the trunk EEG abnormality Pes cavus Abnormality of metabolism/homeostasis Hypertonia Hydrocephalus Hyperreflexia Sensory neuropathy Spasticity Muscular hypotonia Muscle weakness Generalized hypotonia Microangiopathic hemolytic anemia Increased blood urea nitrogen Bloody diarrhea Neonatal hyperbilirubinemia Preeclampsia Microscopic hematuria Falls Neurodegeneration Prolonged neonatal jaundice CNS hypomyelination Episodic fever Hyperactive deep tendon reflexes Ankle clonus Progressive spasticity Opisthotonus Global brain atrophy Hemiplegia/hemiparesis Postural tremor Hemiplegia Decreased nerve conduction velocity Spastic tetraparesis Generalized myoclonic seizures Spastic paraparesis Paraparesis EMG abnormality Sensorimotor neuropathy Leukodystrophy Clonus Progressive muscle weakness Frequent falls Tetraparesis Peripheral demyelination Brain atrophy Acute kidney injury Personality changes Diffuse cerebral atrophy Chronic hemolytic anemia Immunodeficiency Intellectual disability, mild Increased red cell hemolysis by shear stress Exercise-induced hemolysis Increased intracellular sodium Increased mean corpuscular hemoglobin concentration Recurrent thromboembolism Pyropoikilocytosis Compensated hemolytic anemia Portal vein thrombosis Antiphospholipid antibody positivity Arthritis Hemoglobinuria Stomatocytosis Intermittent jaundice Elliptocytosis Spherocytosis Generalized edema Increased serum ferritin Thromboembolism Limb-girdle muscular dystrophy Muscular dystrophy Edema Acidosis Metabolic acidosis Glomerulonephritis Decreased methylcobalamin Hemiparesis Increased serum lactate Abnormal bleeding Coma Hematuria Confusion Paralysis Arrhythmia Thrombocytopenia Thiamine-responsive megaloblastic anemia Septic arthritis Bilateral sensorineural hearing impairment Asthenia Folate deficiency Anisocytosis Megaloblastic anemia Severe combined immunodeficiency Thrombocytosis Macrocytic anemia Combined immunodeficiency Leukopenia Lymphopenia Pancytopenia Increased CSF protein Motor deterioration Pes planus Tetany Salt craving Chronic atrophic gastritis Abnormality of calcium-phosphate metabolism Chronic hepatitis Alopecia areata Keratoconjunctivitis Central diabetes insipidus Alopecia universalis Decreased circulating aldosterone level Alopecia totalis Achalasia Patchy atrophy of the retinal pigment epithelium Abnormality of the cerebral vasculature Chronic mucocutaneous candidiasis Asplenia Adrenal hyperplasia Increased circulating cortisol level Hypoparathyroidism Vitiligo Primary adrenal insufficiency Thyroiditis Metaphyseal dysplasia Decreased circulating parathyroid hormone level Short stature Abnormality of the thyroid gland Clinodactyly Kyphoscoliosis Gastroesophageal reflux Dyspnea Autism Hyperkeratosis Polydactyly Hyperhidrosis Myoclonus Hyporeflexia Patent ductus arteriosus Encephalopathy Scoliosis Depressivity Obesity Kyphosis Dystonia Abnormality of the dentition Cardiomyopathy Short neck Motor delay Delayed speech and language development Strabismus Growth delay Macular atrophy Adrenal insufficiency Abnormality of the thumb Vertigo Cutis marmorata Pleural effusion Urticaria Cranial nerve paralysis Vasculitis Epistaxis Memory impairment Migraine Lymphoma Polyneuropathy Leukemia Gingival bleeding Stroke Proptosis Neoplasm Abnormal flash visual evoked potentials Unexplained fevers Decerebrate rigidity Abnormal nerve conduction velocity CNS demyelination Aplasia/Hypoplasia of the abdominal wall musculature Cloverleaf skull Demyelinating peripheral neuropathy Elevated erythrocyte sedimentation rate Pulmonary infiltrates Hypopigmented skin patches Cryoglobulinemia Opacification of the corneal stroma Abnormality of the fingernails Type I diabetes mellitus Hypocalcemia Hypoplasia of dental enamel Cerebral calcification Hypotension Muscle cramps Abnormal facial shape Polyclonal elevation of IgM Impaired lymphocyte transformation with phytohemagglutinin Raynaud phenomenon Monoclonal immunoglobulin M proteinemia Multifocal epileptiform discharges Retinal hemorrhage Abnormality of neutrophils Normocytic anemia Periorbital edema Reduced consciousness/confusion Abnormality of the retinal vasculature Lymphoproliferative disorder Hypercoagulability Edema of the lower limbs Myopathy



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