Congestive heart failure, and Lymphopenia

Diseases related with Congestive heart failure and Lymphopenia

In the following list you will find some of the most common rare diseases related to Congestive heart failure and Lymphopenia that can help you solving undiagnosed cases.


Top matches:

Low match CONGENITAL SIDEROBLASTIC ANEMIA-B-CELL IMMUNODEFICIENCY-PERIODIC FEVER-DEVELOPMENTAL DELAY SYNDROME


Congenital sideroblastic anemia -B cell immunodeficiency- periodic fever-developmental delay syndrome is a form of constitutional sideroblastic anemia (see this term), characterized by severe microcytic anemia, B-cell lymphopenia , panhypogammaglobulinemia and variable neurodegeneration. The disease presents in infancy with recurrent febrile illnesses, gastrointestinal disturbances, developmental delay, seizures, ataxia and sensorineural deafness. Most patients require regular blood transfusion, iron chelation, and intravenous immunoglobulin (IVIG) replacement. Stem cell transplantation has been reported to be successful.

CONGENITAL SIDEROBLASTIC ANEMIA-B-CELL IMMUNODEFICIENCY-PERIODIC FEVER-DEVELOPMENTAL DELAY SYNDROME Is also known as sifd syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL SIDEROBLASTIC ANEMIA-B-CELL IMMUNODEFICIENCY-PERIODIC FEVER-DEVELOPMENTAL DELAY SYNDROME

Low match AUTOIMMUNE ENTEROPATHY AND ENDOCRINOPATHY-SUSCEPTIBILITY TO CHRONIC INFECTIONS SYNDROME


Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome is an extremely rare, autosomal dominant immunological disorder characterized by variable enteropathy, endocrine disorders (e.g. type 1 diabetes mellitus, hypothyroidism), immune dysregulation with pulmonary and blood-borne bacterial infections, and fungal infections (chronic mucocutaneous candidiasis) developing in infancy. Other manifestations include short stature, eczema, hepatosplenomegaly, delayed puberty, and osteoporosis/osteopenia.

AUTOIMMUNE ENTEROPATHY AND ENDOCRINOPATHY-SUSCEPTIBILITY TO CHRONIC INFECTIONS SYNDROME Is also known as candf7|candidiasis, familial, 7|candidiasis, familial chronic mucocutaneous, autosomal dominant

Related symptoms:

  • Global developmental delay
  • Short stature
  • Growth delay
  • Anemia
  • Diarrhea


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOIMMUNE ENTEROPATHY AND ENDOCRINOPATHY-SUSCEPTIBILITY TO CHRONIC INFECTIONS SYNDROME

Low match PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1; PRAAS1


This autosomal recessive systemic autoinflammatory disorder is characterized by early childhood onset of annular erythematous plaques on the face and extremities with subsequent development of partial lipodystrophy and laboratory evidence of immune dysregulation. More variable features include recurrent fever, severe joint contractures, muscle weakness and atrophy, hepatosplenomegaly, basal ganglia calcifications, and microcytic anemia (summary by Agarwal et al., 2010; Kitamura et al., 2011; Arima et al., 2011).This disorder encompasses Nakajo-Nishimura syndrome (NKJO); joint contractures, muscular atrophy, microcytic anemia, and panniculitis-induced lipodystrophy (JMP syndrome); and chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome (CANDLE). Among Japanese patients, this disorder is best described as Nakajo-Nishimura syndrome, since both Nakajo (1939) and Nishimura et al. (1950) contributed to the original phenotypic descriptions. Genetic Heterogeneity of Proteasome-Associated Autoinflammatory SyndromeSee also PRAAS2 (OMIM ), caused by mutation in the POMP gene (OMIM ) on chromosome 13q12, and PRAAS3 (OMIM ), caused by mutation in the PSMB4 gene (OMIM ) on chromosome 1q21.

PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1; PRAAS1 Is also known as chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome|candle|joint contractures, muscular atrophy, microcytic anemia, and panniculitis-induced lipodystrophy|autoinflammation, lipodystrophy, and dermatosis syndrome|n

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Failure to thrive
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1; PRAAS1

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Other less relevant matches:

Low match DK1-CDG


DK1-CDG is characterised by muscular hypotonia and ichthyosis. It has been described in four children from two consanguineous families. All the affected children died during early infancy, two from dilated cardiomyopathy. The syndrome is caused by a deficiency in dolichol kinase 1 (DK1), an enzyme involved in the de novo biosynthesis of dolichol phosphate. The mutations identified in the DK1 gene led to a 96 to 98% reduction in DK activity.

DK1-CDG Is also known as cdg-im|cdg im|hypotonia and ichthyosis due to dolichol phosphate deficiency|cdg syndrome type im|congenital disorder of glycosylation type im|congenital disorder of glycosylation type 1m|cdgim|dk1 deficiency|cdg1m|carbohydrate deficient glycoprotein syndr

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Growth delay


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about DK1-CDG

Low match SCHIMKE IMMUNO-OSSEOUS DYSPLASIA


Schimke immuno-osseous dysplasia (SIOD) is a multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and glomerulonephritis with nephrotic syndrome.

SCHIMKE IMMUNO-OSSEOUS DYSPLASIA Is also known as immunoosseous dysplasia, schimke type|schimke syndrome|spondyloepiphyseal dysplasia-nephrotic syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Scoliosis
  • Growth delay


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about SCHIMKE IMMUNO-OSSEOUS DYSPLASIA

Low match VICI SYNDROME


Vici syndrome is a very rare and severe congenital multisystem disorder characterized by the principal features of agenesis of the corpus callosum, cataracts, oculocutaneous hypopigmentation, cardiomyopathy and combined immunodeficiency.

VICI SYNDROME Is also known as immunodeficiency with cleft lip/palate, cataract, hypopigmentation, and absent corpus callosum|corpus callosum agenesis-cataract-immunodeficiency syndrome|dionisi-vici-sabetta-gambarara syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about VICI SYNDROME

Low match GAUCHER DISEASE TYPE 3


Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD; see this term) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1 (see this term).

GAUCHER DISEASE TYPE 3 Is also known as chronic neuronopathic gaucher disease|cerebral juvenile and adult form of gaucher disease|gaucher disease, subacute neuronopathic type

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Scoliosis


SOURCES: ORPHANET MENDELIAN

More info about GAUCHER DISEASE TYPE 3

Low match SARCOIDOSIS


Sarcoidosis is a multisystemic disorder of unknown cause characterized by the formation of immune granulomas in involved organs.

SARCOIDOSIS Is also known as boeck sarcoid|besnier-boeck-schaumann disease|sarcoidosis|boeck's sarcoid

Related symptoms:

  • Seizures
  • Pain
  • Cataract
  • Anemia
  • Visual impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about SARCOIDOSIS

Low match HENNEKAM SYNDROME


Hennekam syndrome is characterised by the association of lymphoedema, intestinal lymphangiectasia, intellectual deficit and facial dysmorphism.

HENNEKAM SYNDROME Is also known as lymphedema-lymphangiectasia-intellectual disability syndrome|lymphatic dysplasia, generalized|hennekam lymphangiectasia-lymphedema syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Scoliosis
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about HENNEKAM SYNDROME

Low match GAUCHER DISEASE TYPE 1


Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD; see this term) characterized by organomegaly, bone involvement and cytopenia.

GAUCHER DISEASE TYPE 1 Is also known as gaucher disease, juvenile and adult, cerebral|gd iii|gaucher disease, chronic neuronopathic type|non-cerebral juvenile gaucher disease|gaucher disease, subacute neuronopathic type

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Scoliosis
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about GAUCHER DISEASE TYPE 1

Top 5 symptoms//phenotypes associated to Congestive heart failure and Lymphopenia

Symptoms // Phenotype % cases
Seizures Very Common - Between 80% and 100% cases
Growth delay Common - Between 50% and 80% cases
Anemia Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Thrombocytopenia Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Congestive heart failure and Lymphopenia. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Hepatomegaly

Uncommon Symptoms - Between 30% and 50% cases


Global developmental delay

Common Symptoms - More than 50% cases


Splenomegaly

Uncommon Symptoms - Between 30% and 50% cases


Osteopenia Recurrent respiratory infections Lymphadenopathy Leukopenia Hepatosplenomegaly Arrhythmia Failure to thrive Intellectual disability Diarrhea Hypothyroidism Edema Delayed skeletal maturation Dilatation Recurrent infections Increased antibody level in blood Immunodeficiency Cognitive impairment Scoliosis Cardiomyopathy Dyspnea Fatigue Abnormal bleeding Ascites Muscle weakness Decreased body weight Renal insufficiency Syncope Fever Progressive neurologic deterioration Pancytopenia Cyanosis Strabismus Malabsorption Respiratory distress Arthritis Scarring Nystagmus Abnormal facial shape Depressed nasal bridge Motor delay Bone pain Myopia Kyphosis Osteolysis Dementia Proteinuria Corneal opacity Immune dysregulation Neutropenia Microcytic anemia Sensorineural hearing impairment Pneumonia Delayed puberty Pulmonary arterial hypertension Interstitial pulmonary abnormality Pericardial effusion Ataxia Portal hypertension Hearing impairment Generalized hypotonia Decreased antibody level in blood

Rare Symptoms - Less than 30% cases


Abnormal lung morphology Erlenmeyer flask deformity of the femurs Decreased beta-glucocerebrosidase protein and activity Orthopnea Abnormality of skin pigmentation Cholelithiasis Heterotopia Reduced bone mineral density Abnormality of the kidney Combined immunodeficiency Protuberant abdomen Thoracic kyphosis Cellular immunodeficiency Abnormal immunoglobulin level Emphysema Horizontal supranuclear gaze palsy Hematological neoplasm Neurodevelopmental delay Aspiration Periorbital edema Edema of the lower limbs Chylothorax Ventricular tachycardia Abnormality of coagulation Pleural effusion Headache Anorexia Glaucoma Cardiac valve calcification Cerebellar atrophy Vomiting Abnormality of the dentition Spontaneous hematomas Hypertelorism Generalized osteosclerosis Cataract Abdominal distention Osteoporosis Abdominal pain Petechiae Abnormality of eye movement Cirrhosis Dilated cardiomyopathy Pulmonary fibrosis Generalized myoclonic seizures Depressivity Menorrhagia Clubbing Epistaxis Abnormality of the thorax Hydrops fetalis Increased bone mineral density Oculomotor apraxia Increased susceptibility to fractures Myoclonus Optic neuropathy Spasticity Respiratory tract infection Hypoalbuminemia Low-set ears Epicanthus Protein-losing enteropathy Peripheral neuropathy Hypertonia EEG abnormality Avascular necrosis of the capital femoral epiphysis Exertional dyspnea Abnormality of the spleen Abnormal myocardium morphology Multiple myeloma Supranuclear gaze palsy Vertebral compression fractures Hepatocellular carcinoma Decreased liver function Aseptic necrosis Hematuria Hypopigmentation of the skin Nephrocalcinosis Elevated erythrocyte sedimentation rate Inflammatory abnormality of the skin Abnormal cerebellum morphology Inflammation of the large intestine Neurodegeneration Encephalitis Hypermelanotic macule Autoimmunity Muscular hypotonia Rod-cone dystrophy Hemolytic anemia Pain Abnormal intestine morphology Sepsis Erythema nodosum Hyperpigmentation of the skin Intellectual disability, mild Bronchiectasis Chronic mucocutaneous candidiasis Alopecia Villous atrophy Elevated hepatic transaminase Erythema Skeletal muscle atrophy Primary hypothyroidism Cerebral cortical atrophy Camptodactyly of finger Photophobia Blurred vision Proximal muscle weakness Diabetes insipidus Facial palsy Papule Epiphora Cough Palpitations Hepatic failure Chest pain Hypercalcemia Hypercalciuria Eosinophilia Nephrolithiasis Sudden cardiac death Subcutaneous nodule Hypoglycemia Chorioretinal atrophy Skin nodule Abnormality of the adrenal glands Abnormality of the lymph nodes Skin plaque Generalized lymphadenopathy Abnormality of the cerebrospinal fluid Cystoid macular edema Lactic acidosis Vitreous hemorrhage Abnormality of the pleura Pneumothorax Anterior synechiae of the anterior chamber Night sweats Bone cyst Abnormality of the musculature Macular edema Upper airway obstruction Abnormality of the gastrointestinal tract Tubulointerstitial nephritis Hypothermia Increased CSF protein Heart block Joint swelling Uveitis Hemoptysis Hyperuricemia Hyperthyroidism Keratoconjunctivitis sicca Anemia of inadequate production Weight loss Abnormality of the endocrine system Leukoencephalopathy Recurrent upper respiratory tract infections Restrictive ventilatory defect Opisthotonus Patent foramen ovale Autoimmune hemolytic anemia Thyroiditis Autoimmune thrombocytopenia Pulmonary embolism Hashimoto thyroiditis Dilatation of the cerebral artery Generalized osteoporosis Lower limb hyperreflexia Intention tremor Enterocolitis Decrease in T cell count Progressive cerebellar ataxia B lymphocytopenia Antiphospholipid antibody positivity Renovascular hypertension Renal artery stenosis Autoimmune neutropenia Functional abnormality of the bladder Ophthalmoplegia Abnormal retinal morphology Abnormality of the sternum Blindness Abnormal saccadic eye movements Visual impairment Sleep myoclonus Abnormality of the acoustic reflex Abnormality of ion homeostasis Aminoaciduria Brittle hair Dacryocystitis Hypochromic microcytic anemia Sideroblastic anemia Schistocytosis Mitral valve calcification Aortic valve calcification Bulbar palsy Diabetes mellitus Abnormal thrombosis Carcinoma Astrocytosis Restrictive deficit on pulmonary function testing Hepatitis Eczema Hypercoagulability Slow saccadic eye movements Type I diabetes mellitus Purpura Abnormal heart valve morphology Chorioretinitis Vitreous floaters Anterior uveitis Arteriovenous malformation Severe hydrops fetalis Pulmonary lymphangiectasia Lymphangioma Erysipelas Intestinal lymphangiectasia Abnormal oral mucosa morphology Rectal prolapse Cerebral atrophy Generalized edema Hypoproteinemia Sparse axillary hair Nonimmune hydrops fetalis Hypoplastic iliac wing Benign neoplasm of the central nervous system Polysplenia Coronal craniosynostosis External ear malformation Palpebral edema Increased number of teeth Cutaneous finger syndactyly Ectopic kidney Abnormality of dental morphology Pyloric stenosis Reduced number of teeth Oligodontia Cutaneous syndactyly Spina bifida occulta Conical incisor Mild postnatal growth retardation Horseshoe kidney Pathologic fracture Biliary tract obstruction Vascular calcification Abnormal platelet function Arthralgia of the hip Flank pain Abnormality of bone marrow cell morphology Fractures of the long bones Hypersplenism Esodeviation Increased serum ferritin Bipolar affective disorder Gingival bleeding Osteomyelitis Thyroid lymphangiectasia Leukocytosis Spastic paraparesis Meningitis Hepatic fibrosis Osteoarthritis Apraxia Abnormality of the cardiovascular system Parkinsonism Bruising susceptibility Neurological speech impairment Abnormality of the eye Pleural lymphangiectasia Pericardial lymphangiectasia Narrow palate Hypocalcemia Abnormal salivary gland morphology Abnormality of the nasal mucosa Intellectual disability, severe Atrial septal defect Respiratory insufficiency Talipes equinovarus Ventricular septal defect Wide nasal bridge Cryptorchidism Abnormal trabecular meshwork morphology Pulmonary granulomatosis Vitreous snowballs Enlarged lacrimal glands Maculopapular exanthema Increased T cell count Syndactyly Abnormal cardiac ventricular function Parotitis Abnormal liver parenchyma morphology Non-caseating epithelioid cell granulomatosis Abnormality of T cell physiology Enlargement of parotid gland Posterior vitreous detachment Abnormality of skin morphology Abnormal reproductive system morphology Vitritis Abnormal pyramidal sign Abnormal conjunctiva morphology Iridocyclitis Malar flattening Midface retrusion Bilateral single transverse palmar creases Narrow chest Joint contracture of the hand Lymphedema Gingival overgrowth Pachygyria Vesicoureteral reflux Delayed eruption of teeth Short foot Small hand Hirsutism Short palm Flat face Smooth philtrum Abnormality of the foot Finger syndactyly Pectus excavatum Broad forehead Microtia Short philtrum Craniosynostosis Camptodactyly Intellectual disability, moderate Hydronephrosis Conductive hearing impairment Umbilical hernia Retrognathia Polyhydramnios Narrow mouth Hyperactivity Generalized tonic-clonic seizures Susceptibility to herpesvirus Pallor Abnormality of epiphysis morphology Nephritis Glomerulonephritis Epiphyseal dysplasia Glomerulosclerosis Chronic kidney disease Coarse hair Elbow flexion contracture Azoospermia Hyperlipidemia Atherosclerosis Opacification of the corneal stroma Bone marrow hypocellularity Conjunctivitis Spondyloepiphyseal dysplasia Abnormal form of the vertebral bodies Growth abnormality Fine hair Intellectual disability, profound Lumbar hyperlordosis Nephrotic syndrome Microdontia Decreased testicular size Waddling gait Lymphoma Premature birth Migraine Melanocytic nevus Focal segmental glomerulosclerosis Gliosis Subvalvular aortic stenosis Abnormal T cell morphology Encephalomalacia Increased thyroid-stimulating hormone level Shallow acetabular fossae Steroid-resistant nephrotic syndrome Multiple lentigines Mucopolysacchariduria Hypoplasia of the capital femoral epiphysis Arteriosclerosis Right ventricular cardiomyopathy Prominent nose Dentinogenesis imperfecta Precocious atherosclerosis High pitched voice Cerebral ischemia Lymphoproliferative disorder B-cell lymphoma Disproportionate short-trunk short stature Ovoid vertebral bodies Cardiomegaly Transient ischemic attack Abnormality of the vasculature Thick lower lip vermilion Glomerulopathy Multiple cafe-au-lait spots Steatorrhea Hypertriglyceridemia Brain atrophy Nephropathy Moyamoya phenomenon Severe muscular hypotonia Hypoketotic hypoglycemia Myocarditis Epileptic spasms Lipoatrophy Stiff skin Finger swelling Bilateral talipes equinovarus Hyperglycemia Ventricular fibrillation Erythroderma Sacral dimple Adipose tissue loss Sparse eyelashes Aplasia/Hypoplasia of the nipples Recurrent pneumonia Absent speech Bradycardia Sparse and thin eyebrow Postnatal microcephaly Thin skin Hypsarrhythmia Elevated serum creatine phosphokinase Tetraplegia Ichthyosis Dry skin Hyperkeratosis Apnea Congenital hepatic fibrosis Type I transferrin isoform profile Bulbous nose Rimmed vacuoles Lipodystrophy Stage 5 chronic kidney disease Astigmatism Glucose intolerance Platyspondyly Hip dislocation Long fingers Stroke Hyperlordosis Developmental regression Thin upper lip vermilion Basal ganglia calcification Myositis Reduced antithrombin III activity Abnormally large globe Clubbing of fingers Generalized lipodystrophy Short neck Intrauterine growth retardation Flexion contracture of toe Hypertension Hypochromic anemia Panniculitis Episcleritis Aplasia of the fingers Adactyly Abnormal isoelectric focusing of serum transferrin Macroglossia Premature arteriosclerosis Mental deterioration Fair hair Recurrent aspiration pneumonia Decreased proportion of CD4-positive T cells Abnormality of the mandible Pontocerebellar atrophy Granulocytopenia Abnormal posturing Recurrent fungal infections Hypopigmentation of the fundus Hypoplasia of the thymus Recurrent viral infections Abnormal cortical gyration Hypoplasia of the pons Renal tubular dysfunction Abnormality of the thymus Ocular albinism Depressed nasal tip Severe failure to thrive Aspiration pneumonia IgG deficiency Severe sensorineural hearing impairment Hypopigmentation of hair Abnormal serum interferon-gamma level Abnormality of immune system physiology Renal tubular acidosis Centrally nucleated skeletal muscle fibers Bronchitis Abnormality of the optic disc Abnormality of the cerebellar vermis Albinism Medial calcification of large arteries Aggressive behavior Rigidity Difficulty walking Carotid artery dilatation Recurrent Aspergillus infections Myalgia Oropharyngeal squamous cell carcinoma Encephalopathy Esophageal carcinoma Dystonia Hydrocephalus Dysphagia Gait disturbance Muscle flaccidity Tremor Acute bronchitis White matter neuronal heterotopia Severe T-cell immunodeficiency Penile hypospadias Immunoglobulin IgG2 deficiency Ureteral atresia Aplasia/Hypoplasia of the macula Decreased T cell activation Cutaneous anergy Frontoparietal polymicrogyria Schizencephaly Abnormal macular morphology Macular atrophy Congenital sensorineural hearing impairment Anterior pituitary dysgenesis Anteverted nares Hypertrophic cardiomyopathy Hyperhidrosis Coarse facial features Acidosis Respiratory failure Agenesis of corpus callosum Cerebellar hypoplasia Hypospadias Long philtrum Macrotia Myopathy Arthralgia Ventriculomegaly Cleft lip Optic atrophy Hyperreflexia Feeding difficulties High palate Abnormality of the liver Ptosis Skin rash Cleft palate Micrognathia Inability to walk Microcephaly Lateral displacement of the femoral head Nephrosclerosis Muscular hypotonia of the trunk Feeding difficulties in infancy Poor suck Hypotelorism Adducted thumb Infantile muscular hypotonia Aplasia/Hypoplasia of the corpus callosum Recurrent bacterial infections Increased body weight Progressive microcephaly Abnormality of retinal pigmentation Flexion contracture Left ventricular hypertrophy Open mouth Cerebellar vermis hypoplasia Ventricular hypertrophy Narrow forehead Postnatal growth retardation Delayed myelination Triangular face Sleep disturbance High, narrow palate Thick vermilion border Wide nose Pulmonary hypoplasia Polymicrogyria Cleft upper lip Congenital cataract Severe global developmental delay Joint stiffness Babinski sign Puberty and gonadal disorders



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