Cardiomyopathy, and Coarctation of aorta

Diseases related with Cardiomyopathy and Coarctation of aorta

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


Top matches:

Low match ATRIAL SEPTAL DEFECT 4; ASD4


Related symptoms:

  • Hypertension
  • Ventricular septal defect
  • Cardiomyopathy
  • Atrial septal defect
  • Congestive heart failure


SOURCES: OMIM MESH MENDELIAN

More info about ATRIAL SEPTAL DEFECT 4; ASD4

Low match FAMILIAL BICUSPID AORTIC VALVE


Familial bicuspid aortic valve is a rare, genetic, aortic malformation defined as a presence of abnormal two-leaflet aortic valve in at least 2 first-degree relatives. It is frequently asymptomatic or may be associated with progressive aortic valve disease (aortic regurgitation and/or aortic stenosis, typically due to valve calcification) and a concomitant aortopathy (i.e. aortic dilation, aortic aneurysm and/or dissection).

FAMILIAL BICUSPID AORTIC VALVE Is also known as aortic valve, calcification of|aortic stenosis, calcific|aortic valve, bicuspid|familial bav|bav|bicuspid aortic valve|aortic valve disease

Related symptoms:

  • Hypertension
  • Fever
  • Ventricular septal defect
  • Cardiomyopathy
  • Atrial septal defect


SOURCES: ORPHANET OMIM MENDELIAN

More info about FAMILIAL BICUSPID AORTIC VALVE

Low match CARDIOMYOPATHY, DILATED, 1S; CMD1S


Related symptoms:

  • Muscle weakness
  • Ventriculomegaly
  • Cardiomyopathy
  • Myopathy
  • Congestive heart failure


SOURCES: OMIM MESH MENDELIAN

More info about CARDIOMYOPATHY, DILATED, 1S; CMD1S

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

Low match NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR


Noonan-like syndrome with loose anagen hair (NS/LAH) is a Noonan-related syndrome, characterized by facial anomalies suggestive of Noonan syndrome (see this term); a distinctive hair anomaly described as loose anagen hair syndrome (see this term); frequent congenital heart defects; distinctive skin features with darkly pigmented skin, keratosis pilaris, eczema or occasional neonatal ichtyosis (see this term); and short stature, often associated with a GH deficiency and psychomotor delays.

NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR Is also known as ns/lah|tosti syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR

Low match ISOLATED COMPLEX I DEFICIENCY


Isolated complex I deficiency is a rare inborn error of metabolism due to mutations in nuclear or mitochondrial genes encoding subunits or assembly factors of the human mitochondrial complex I (NADH: ubiquinone oxidoreductase) and is characterized by a wide range of manifestations including marked and often fatal lactic acidosis, cardiomyopathy, leukoencephalopathy, pure myopathy and hepatopathy with tubulopathy. Among the numerous clinical phenotypes observed are Leigh syndrome, Leber hereditary optic neuropathy and MELAS syndrome (see these terms).

ISOLATED COMPLEX I DEFICIENCY Is also known as isolated nadh-ubiquinone reductase deficiency|nadh:q(1) oxidoreductase deficiency|isolated nadh-coq reductase deficiency|isolated mitochondrial respiratory chain complex i deficiency|isolated nadh-coenzyme q reductase deficiency|nadh-coenzyme q reductase

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about ISOLATED COMPLEX I DEFICIENCY

Low match NEUROFIBROMATOSIS TYPE 1 DUE TO NF1 MUTATION OR INTRAGENIC DELETION


Neurofibromatosis type I is an autosomal dominant disorder characterized by cafe-au-lait spots, Lisch nodules in the eye, and fibromatous tumors of the skin. Individuals with the disorder have increased susceptibility to the development of benign and malignant tumors. NF1 is sometimes referred to as 'peripheral neurofibromatosis.' The worldwide incidence of NF1 is 1 in 2,500 to 1 in 3,000 individuals (reviews by Shen et al., 1996 and Williams et al., 2009).Type II neurofibromatosis (NF2 ) is a genetically distinct disorder caused by mutation in the gene encoding merlin (NF2 ) on chromosome 22q12. NF2, sometimes known as 'central neurofibromatosis,' is characterized by bilateral acoustic neuroma and meningioma, but few skin lesions or neurofibromas (Rouleau et al., 1993).Some patients with homozygous or compound heterozygous mutations in mismatch repair genes (see, e.g., MLH1; {120436} and MSH2; {609309}) have a phenotype characterized by early onset malignancies and mild features of NF1, especially cafe-au-lait spots; this is known as the mismatch repair cancer syndrome (OMIM ), sometimes referred to as brain tumor-polyposis syndrome-1 or Turcot syndrome. These patients typically do not have germline mutations in the NF1 gene, although a study by Wang et al. (2003) suggested that biallelic mutations in mismatch repair genes may cause somatic mutations in the NF1 gene, perhaps resulting in isolated features resembling NF1.See also Legius syndrome (OMIM ), a genetically distinct disorder with a similar phenotype to NF1.

NEUROFIBROMATOSIS TYPE 1 DUE TO NF1 MUTATION OR INTRAGENIC DELETION Is also known as von recklinghausen disease due to nf1 mutation or intragenic deletion|neurofibromatosis, peripheral type|von recklinghausen disease

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Scoliosis
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEUROFIBROMATOSIS TYPE 1 DUE TO NF1 MUTATION OR INTRAGENIC DELETION

Low match NOONAN SYNDROME 1; NS1


Noonan syndrome (NS) is an autosomal dominant disorder characterized by short stature, facial dysmorphism, and a wide spectrum of congenital heart defects. The distinctive facial features consist of a broad forehead, hypertelorism, downslanting palpebral fissures, a high-arched palate, and low-set, posteriorly rotated ears. Cardiac involvement is present in up to 90% of patients. Pulmonic stenosis and hypertrophic cardiomyopathy are the most common forms of cardiac disease, but a variety of other lesions are also observed. Additional relatively frequent features include multiple skeletal defects (chest and spine deformities), webbed neck, mental retardation, cryptorchidism, and bleeding diathesis (summary by Tartaglia et al., 2002). Genetic Heterogeneity of Noonan SyndromeSee also NS3 (OMIM ), caused by mutation in the KRAS gene (OMIM ); NS4 (OMIM ), caused by mutation in the SOS1 gene (OMIM ); NS5 (OMIM ), caused by mutation in the RAF1 gene (OMIM ); NS6 (OMIM ), caused by mutation in the NRAS gene (OMIM ); NS7 (OMIM ), caused by mutation in the BRAF gene (OMIM ); NS8 (OMIM ), caused by mutation in the RIT1 gene (OMIM ); NS9 (OMIM ), caused by mutation in the SOS2 gene (OMIM ); and NS10 (OMIM ), caused by mutation in the LZTR1 gene (OMIM ).See also NS2 (OMIM ) for a possible autosomal recessive form of NS; Noonan syndrome-like disorder with loose anagen hair-1 (NSLH1 ), caused by mutation in the SHOC2 gene (OMIM ); Noonan syndrome-like disorder with loose anagen hair-2 (NSLH2 ), caused by mutation in the PPP1CB gene (OMIM ); and Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia (NSLL ), caused by mutation in the CBL gene (OMIM ).Mutations in the neurofibromin gene (NF1 ), which is the site of mutations causing classic neurofibromatosis type I (NF1 ), have been found in neurofibromatosis-Noonan syndrome (NFNS ).

NOONAN SYNDROME 1; NS1 Is also known as female pseudo-turner syndrome|male turner syndrome|noonan syndrome|turner phenotype with normal karyotype

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NOONAN SYNDROME 1; NS1

Low match MYHRE SYNDROME


Myhre syndrome is characterised by striking muscular build, short stature, reduced joint mobility, brachydactyly, mixed hearing loss and mental retardation of variable severity. Facial dysmorphism with short palpebral fissures, short philtrum, thin lips, maxillary hypoplasia and prognathism is present. Thick skin has been observed in six patients.

MYHRE SYNDROME Is also known as laryngotracheal stenosis, arthropathy, prognathism, and short stature|laps syndrome|growth-mental deficiency syndrome of myhre|facial dysmorphism-intellectual disability-short stature-hearing loss syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about MYHRE SYNDROME

Low match NOONAN SYNDROME


Noonan Syndrome (NS) is characterised by short stature, typical facial dysmorphism and congenital heart defects.

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Scoliosis
  • Growth delay


SOURCES: ORPHANET MENDELIAN

More info about NOONAN SYNDROME

Low match EBSTEIN MALFORMATION


Ebstein's malformation is a rare congenital cardiac anomaly characterized by rotational displacement of the septal and inferior leaflets of the tricuspid valve such that they are hinged within the right ventricle, rather than as expected at the atrioventricular junction.

EBSTEIN MALFORMATION Is also known as ebstein anomaly of the tricuspid valve

Related symptoms:

  • Fatigue
  • Ventricular septal defect
  • Respiratory insufficiency
  • Atrial septal defect
  • Congestive heart failure


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about EBSTEIN MALFORMATION

Top 5 symptoms//phenotypes associated to Cardiomyopathy and Coarctation of aorta

Symptoms // Phenotype % cases
Atrial septal defect Common - Between 50% and 80% cases
Ventricular septal defect Common - Between 50% and 80% cases
Hypertrophic cardiomyopathy Common - Between 50% and 80% cases
Abnormal facial shape Common - Between 50% and 80% cases
Patent ductus arteriosus Common - Between 50% and 80% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

Patients with Cardiomyopathy and Coarctation of aorta. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Abnormal heart morphology

Uncommon Symptoms - Between 30% and 50% cases


Intellectual disability

Common Symptoms - More than 50% cases


Ptosis

Uncommon Symptoms - Between 30% and 50% cases


Abnormality of cardiovascular system morphology Hypertelorism Pulmonic stenosis Strabismus Growth delay Congestive heart failure Short stature Hearing impairment Global developmental delay Micrognathia Short neck Cryptorchidism Feeding difficulties Brachydactyly Macrocephaly Kyphoscoliosis Postnatal growth retardation Sparse hair Respiratory insufficiency Sensorineural hearing impairment Seizures Ventricular hypertrophy Hypertension Dilatation Epicanthus High, narrow palate Scoliosis Neurofibrosarcoma Failure to thrive Abnormal cardiac septum morphology Hypogonadism Low-set ears High palate Constipation Bicuspid aortic valve Wide intermamillary distance Clinodactyly Downslanted palpebral fissures Patent foramen ovale Aortic valve stenosis Vomiting Low-set, posteriorly rotated ears Pectus excavatum Hypoglycemia Gastroesophageal reflux Webbed neck Hyperactivity Superior pectus carinatum Cafe-au-lait spot Muscle weakness Arnold-Chiari malformation Low posterior hairline Failure to thrive in infancy Nystagmus Mitral valve prolapse

Rare Symptoms - Less than 30% cases


Abnormality of the pulmonary artery Thickened helices Abnormality of refraction Respiratory failure Hepatomegaly Abnormal location of ears Cataract Abnormality of the testis Arnold-Chiari type I malformation Myopia Feeding difficulties in infancy Redundant neck skin Microcephaly Hernia Loose anagen hair Intrauterine growth retardation Ataxia Arrhythmia Blindness Edema Respiratory distress Muscular hypotonia Anemia Talipes equinovarus Progressive cerebellar ataxia Visual impairment Fatigue Peripheral neuropathy Dysphagia Cubitus valgus Premature birth Amegakaryocytic thrombocytopenia Autistic behavior Leukemia Facial asymmetry Amenorrhea Specific learning disability Tetralogy of Fallot Abnormality of the cardiovascular system Reduced factor XII activity Multiple lentigines Midface retrusion Synovitis Shield chest Precocious puberty Amblyopia Lymphedema Restrictive cardiomyopathy Neurofibromas Male infertility Cystic hygroma Autism Headache Left ventricular hypertrophy Proptosis Incoordination Oral-pharyngeal dysphagia Pericardial effusion Thrombocytopenia Radial deviation of finger Neoplasm Pain Cognitive impairment Dysarthria Polyhydramnios Intellectual disability, mild Abnormality of coagulation Broad forehead Bruising susceptibility Triangular face Abnormality of the skeletal system Abnormal bleeding Schwannoma Dental malocclusion Behavioral abnormality Freckling Cerebellar atrophy Right bundle branch block Stroke Thick lower lip vermilion Cyanosis Thin vermilion border Joint hypermobility Hypotrichosis Ventriculomegaly Myopathy Pectus carinatum Attention deficit hyperactivity disorder Proximal muscle weakness Shock Hypoplastic aortic arch Pulmonary artery stenosis Left ventricular noncompaction High forehead Cardiogenic shock Ebstein anomaly of the tricuspid valve Generalized hypotonia Delayed speech and language development Hydrocephalus Posteriorly rotated ears Delayed skeletal maturation Mitral regurgitation Atrial fibrillation Pulmonary arterial hypertension Aortic arch aneurysm Fever Coarse hair Dilated cardiomyopathy Mitral stenosis Cleft palate Atrial standstill Puberty and gonadal disorders Nasogastric tube feeding Inguinal hernia Preductal coarctation of the aorta Hypospadias Obesity Abnormal platelet function Recurrent infections Microphthalmia Postductal coarctation of the aorta Reduced factor XI activity Syndactyly Pulmonary lymphangiectasia Hyperkeratosis pilaris Malar flattening Motor delay Flexion contracture Prominent nasolabial fold Splenomegaly Sudden cardiac death Reduced factor VIII activity Tibial pseudoarthrosis Short philtrum Cough Microtia Scarring Blepharophimosis Joint stiffness Respiratory tract infection Camptodactyly Cleft lip Conductive hearing impairment Depressed nasal bridge Deeply set eye Brow ptosis Thin upper lip vermilion Mandibular prognathia Narrow mouth Severe short stature Recurrent respiratory infections Prominent fingertip pads Abnormal pulmonary valve morphology Reduced factor XIII activity Hypoplasia of lymphatic vessels Gonadal neoplasm Myelodysplasia Cerebral ischemia Pierre-Robin sequence Abnormality of color vision Leukocytosis Bundle branch block Dextrocardia Abnormality of the coagulation cascade Abnormal lymphatic vessel morphology Abnormal atrial septum morphology Chest pain Abnormality of the vertebral column Elevated alkaline phosphatase Pterygium Abdominal distention Poor suck Azoospermia Plagiocephaly Aplasia of lymphatic vessels Prominent digit pad Clumsiness Primary amenorrhea Arterial thrombosis Abdominal pain Abnormality of the vestibular nerve Abnormal nipple morphology Ventricular preexcitation Pectus excavatum of inferior sternum Juvenile myelomonocytic leukemia Panuveitis Aplasia of the semicircular canal Morphological abnormality of the inner ear Lymphangioma Optic disc hypoplasia Asymmetry of the thorax Abnormal anterior segment morphology Neuroblastoma Abnormal endocardium morphology Small for gestational age Rod-cone dystrophy Atrial flutter Nonimmune hydrops fetalis Drusen Abnormal renal morphology Malignant hyperthermia Gonadal dysgenesis Abnormality of blood and blood-forming tissues Prominent nasal bridge Hypoplasia of the maxilla Platyspondyly Abnormal hair quantity Elevated circulating follicle stimulating hormone level Hydronephrosis Abnormality of the spleen Aplasia/Hypoplasia of the abdominal wall musculature Hepatosplenomegaly Abnormal mitral valve morphology Coarse facial features Clinodactyly of the 5th finger Elevated circulating luteinizing hormone level Myeloproliferative disorder Enlarged thorax Arterial fibromuscular dysplasia High anterior hairline Hypoplasia of eyelid Gingival cleft Enlarged vertebral pedicles Laryngotracheal stenosis Generalized muscle hypertrophy Abnormality of the pubic bone Constrictive pericarditis Pear-shaped nose Chylothorax Large iliac wings Abnormality of the lymphatic system Esophageal stenosis Abnormality of the helix Premature skin wrinkling Stiff skin Hypogonadotrophic hypogonadism Prolonged bleeding time Melanocytic nevus Atrioventricular canal defect Pleural effusion Abnormality of the thorax Abnormality of digit Bilateral ptosis Radioulnar synostosis Abnormality of the urinary system Abnormal dermatoglyphics Scapular winging Decreased body weight Neurological speech impairment Curly hair Thoracic scoliosis Abnormality of the genital system Otitis media Aortic root aneurysm Acute lymphoblastic leukemia Thick vermilion border Joint hyperflexibility Abnormality of the mouth Thickened nuchal skin fold Acute leukemia Delayed puberty Pseudopapilledema Abnormality of the penis Hypermetropia Abnormality of the metaphysis Skeletal muscle hypertrophy Stridor Cone-shaped epiphysis Intestinal lymphangiectasia Abnormality of the voice Short long bone Narrow palpebral fissure EMG abnormality Short toe Abnormality of epiphysis morphology Thickened skin Abnormal lung morphology 2-3 toe syndactyly Unilateral ptosis Choanal atresia Short palpebral fissure Fine hair Abnormality of the ribs Limitation of joint mobility Bifid uvula Myopathic facies Short palm Thick eyebrow Oral cleft Astigmatism Overlapping toe Blurred vision Abnormal lip morphology Chronic constipation Prolonged QRS complex Unilateral cleft lip Abnormality of the menstrual cycle Epispadias Femoral hernia Peptic ulcer Constrictive median neuropathy Craniofacial hyperostosis Broad ribs Tracheal stenosis Hypoplastic iliac wing Oligomenorrhea External genital hypoplasia Irregular vertebral endplates Submucous cleft hard palate Wheezing Pericarditis Arthropathy Keratoconus Thickened calvaria Abnormal joint morphology High hypermetropia Vertebral fusion Short finger Abnormality of the mandible Cerebral artery stenosis Lymphoma Spinal neurofibromas Spasticity Myoclonus Agenesis of corpus callosum Pneumonia Babinski sign Hyporeflexia Areflexia Encephalopathy Renal insufficiency Dystonia Optic atrophy Skeletal muscle atrophy Hyperreflexia Abnormality of the nasal bridge Myalgia Broad fingertip Abnormality of the intervertebral disk Dermal translucency Peripheral pulmonary artery stenosis Slow-growing hair Enlarged cisterna magna Abnormally large globe Hypomagnesemia Fragile nails Hiatus hernia Abnormality of the elbow Broad neck Acidosis Muscular hypotonia of the trunk Natal tooth Stage 5 chronic kidney disease Increased serum lactate Migraine Brain atrophy Gliosis Generalized myoclonic seizures Abnormal cerebellum morphology Coma Metabolic acidosis Hepatic steatosis Dyskinesia Hepatic failure Lactic acidosis Talipes Abnormality of the eye Abnormality of movement Abnormality of eye movement Limb muscle weakness Lethargy Severe global developmental delay Abnormal pyramidal sign Retinopathy Abnormality of the liver Pallor Irritability Developmental regression Apnea Mental deterioration Atopic dermatitis Neurodevelopmental delay Pigmentary retinopathy Abnormality of the left ventricular outflow tract Left ventricular noncompaction cardiomyopathy Reduced systolic function First degree atrioventricular block Abnormal left ventricle morphology T-wave inversion Left bundle branch block Pulmonary embolism Coronary artery atherosclerosis Tricuspid regurgitation Ventricular arrhythmia Thoracic aorta calcification Bicuspid pulmonary valve Mitral atresia ST segment depression Cystic medial necrosis Ascending aortic dissection Aortic valve calcification Thoracic aortic aneurysm Asymmetric septal hypertrophy Aortic dissection Double outlet right ventricle Hypoplastic left heart Heart murmur Aortic aneurysm Aortic regurgitation Endocardial fibroelastosis Pulmonary artery hypoplasia Anteverted nares Aplasia/Hypoplasia of the eyebrow Hyperpigmentation of the skin Hypoplastic toenails Overfolded helix Nasal speech Deep philtrum Relative macrocephaly Optic nerve hypoplasia Increased intracranial pressure Infantile muscular hypotonia Abnormal palate morphology Abnormality of the fingernails Hypocalcemia Hoarse voice Thin skin Short nose Sparse scalp hair Eczema Dandy-Walker malformation Growth hormone deficiency Ichthyosis Carious teeth Dolichocephaly Craniosynostosis Umbilical hernia Retrognathia Macrotia Hypothyroidism Prominent forehead Febrile seizures Optic disc pallor Inguinal freckling Osteomalacia Parathyroid adenoma Aqueductal stenosis Astrocytoma Brain neoplasm Myocardial fibrosis Neoplasm of the endocrine system Meningioma Gangrene Increased reactive oxygen species production Overweight Severe vision loss Renal cell carcinoma Multiple cafe-au-lait spots Complete atrioventricular canal defect Tibial bowing Pulmonary fibrosis Hypophosphatemia Sensory axonal neuropathy Clitoral hypertrophy Back pain Sarcoma Breast carcinoma Reduced bone mineral density Venous thrombosis Atherosclerosis Spina bifida Pheochromocytoma Anomalous pulmonary venous return Bone pain Soft tissue sarcoma Plexiform neurofibroma Acute promyelocytic leukemia Subcutaneous neurofibromas Optic nerve glioma Neuroma Vestibular Schwannoma Embryonal rhabdomyosarcoma Axillary freckling Renovascular hypertension Renal artery stenosis Single ventricle Pseudoarthrosis Epigastric pain Night sweats Dural ectasia Leiomyosarcoma Fibular bowing Gastrointestinal stroma tumor Neoplasm of the central nervous system Lisch nodules Chronic myelogenous leukemia Renal phosphate wasting Glioma Nasolacrimal duct obstruction Rhabdomyosarcoma Carcinoid tumor Paraganglioma Sensorimotor neuropathy Aganglionic megacolon Congenital diaphragmatic hernia Poor eye contact Corpus callosum atrophy Wolff-Parkinson-White syndrome Increased CSF lactate Nemaline bodies Aspiration pneumonia Cardiorespiratory arrest Mitochondrial myopathy Progressive encephalopathy Optic neuropathy Renal tubular acidosis Basal ganglia calcification Weak cry Progressive spasticity Cerebral edema Global brain atrophy Adrenal insufficiency Ragged-red muscle fibers Leukoencephalopathy Pancreatitis Exercise intolerance Horizontal nystagmus Cardiac arrest Aspiration Leukodystrophy Wide anterior fontanel Cardiomegaly Severe lactic acidosis Acute pancreatitis Hypsarrhythmia Glaucoma Overgrowth Gastrointestinal hemorrhage Recurrent fractures Abnormality of skin pigmentation Peripheral axonal neuropathy Paresthesia Genu valgum Malabsorption Pruritus Paralysis Osteopenia Weight loss Osteoporosis Stiff neck Visual loss Depressivity Exercise-induced lactic acidemia Acute necrotizing encephalopathy Abnormal mitochondria in muscle tissue Congenital lactic acidosis Necrotizing encephalopathy Progressive macrocephaly Macrovesicular hepatic steatosis Infantile encephalopathy Biventricular hypertrophy Axial dystonia Decreased activity of mitochondrial respiratory chain Imperforate tricuspid valve



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Congestive heart failure and Amyotrophic lateral sclerosis, related diseases and genetic alterations Congestive heart failure and Myocardial infarction, related diseases and genetic alterations Wide nasal bridge and Lactic acidosis, related diseases and genetic alterations Myopathy and Optic atrophy, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more