Congestive heart failure, and Spastic paraplegia

Diseases related with Congestive heart failure and Spastic paraplegia

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


Top matches:

Medium match LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4; CGL4


Congenital generalized lipodystrophy type 4 combines the phenotype of classic Berardinelli-Seip lipodystrophy (OMIM ) with muscular dystrophy and cardiac conduction anomalies (Hayashi et al., 2009).For a general description and a discussion of genetic heterogeneity of congenital generalized lipodystrophy, see CGL1 (OMIM ).

LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4; CGL4 Is also known as berardinelli-seip congenital lipodystrophy, type 4, with muscular dystrophy|lipodystrophy, berardinelli-seip congenital, type 4, with muscular dystrophy

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Failure to thrive


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4; CGL4

Medium match ATTRV30M AMYLOIDOSIS


Familial amyloid polyneuropathy (FAP) or transthyretin (TTR) amyloid polyneuropathy is a progressive sensorimotor and autonomic neuropathy of adulthood onset. Weight loss and cardiac involvement are frequent; ocular or renal complications may also occur.

ATTRV30M AMYLOIDOSIS Is also known as familial amyloid polyneuropathy type i|ttr amyloid neuropathy|attrv30m-related amyloidosis|hereditary amyloidosis, transthyretin-related|transthyretin amyloid polyneuropathy|familial amyloid polyneuropathy, portuguese-swedish-japanese type|fap|amyloid pol

Related symptoms:

  • Seizures
  • Hearing impairment
  • Ataxia
  • Nystagmus
  • Sensorineural hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about ATTRV30M AMYLOIDOSIS

Medium match ISOLATED SUCCINATE-COQ REDUCTASE DEFICIENCY


Mitochondrial complex II deficiency is an autosomal recessive disorder with a highly variable phenotype. Some patients have multisystem involvement of the brain, heart, muscle, liver, and kidneys resulting in death in infancy, whereas others have only isolated cardiac or muscle involvement with onset in adulthood and normal cognition. Measurement of complex II activity in muscle is the most reliable means of diagnosis; however, there is no clear correlation between residual complex II activity and severity or clinical outcome. In some cases, treatment with riboflavin may have clinical benefit (summary by Jain-Ghai et al., 2013).

ISOLATED SUCCINATE-COQ REDUCTASE DEFICIENCY Is also known as isolated succinate-ubiquinone reductase deficiency|isolated succinate-coenzyme q reductase deficiency|isolated mitochondrial respiratory chain complex ii deficiency|succinate coq reductase deficiency

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ISOLATED SUCCINATE-COQ REDUCTASE DEFICIENCY

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Other less relevant matches:

Medium match FRIEDREICH ATAXIA


Friedreich ataxia (FRDA) is an inherited neurodegenerative disorder classically characterized by progressive gait and limb ataxia, dysarthria, dysphagia, oculomotor dysfunction, loss of deep tendon reflexes, pyramidal tract signs, scoliosis, and in some, cardiomyopathy, diabetes mellitus, visual loss and defective hearing.

FRIEDREICH ATAXIA Is also known as frda1|fa|frda

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Ataxia
  • Nystagmus
  • Muscle weakness


SOURCES: ORPHANET OMIM MENDELIAN

More info about FRIEDREICH ATAXIA

Medium 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

Low match HURLER-SCHEIE SYNDROME


Hurler-Scheie syndrome is the intermediate form of mucopolysaccharidosis type 1 (MPS1; see this term) between the two extremes Hurler syndrome and Scheie syndrome (see these terms); it is a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development.

HURLER-SCHEIE SYNDROME Is also known as mucopolysaccharidosis type 1h/s|mucopolysaccharidosis type ih/s|mpsih/s|mps1-hs|mps1h/s

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about HURLER-SCHEIE SYNDROME

Low match HURLER SYNDROME


Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver and spleen, characteristic facies and reduced life expectancy.

HURLER SYNDROME Is also known as mpsih|mps1h|mps1-h|mucopolysaccharidosis type 1h|mucopolysaccharidosis type ih|hurler disease

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about HURLER SYNDROME

Low match PARKES WEBER SYNDROME


Related symptoms:

  • Congestive heart failure
  • Headache
  • Glaucoma
  • Abnormal bleeding
  • Hemiparesis


SOURCES: ORPHANET MENDELIAN

More info about PARKES WEBER SYNDROME

Low match AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2W


Autosomal recessive limb-girdle muscular dystrophy type 2W is a subtype of autosomal recessive limb girdle muscular dystrophy characterized by childhood onset of severe, progressive, proximal skeletal muscle weakness and atrophy of the upper and lower limbs with later involvement of distal muscles and development of severe quadraparesis, calf hypertrophy, triangular tongue, and dilated cardiomyopathy. Skeletal muscles undergo diffuse, bilateral, symmetric and severe atrophy with fat infiltration.

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2W Is also known as lgmd2w

Related symptoms:

  • Muscle weakness
  • Skeletal muscle atrophy
  • Talipes equinovarus
  • Cardiomyopathy
  • Elevated serum creatine phosphokinase


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2W

Low match ATRIAL STANDSTILL 2; ATRST2


Atrial standstill (AS) is a rare condition characterized by the absence of electrical and mechanical activity in the atria. On surface ECG, AS is distinguished by bradycardia, junctional (usually narrow complex) escape rhythm, and absence of the P wave. Nearly 50% of patients with AS experience syncope. AS can be persistent or transient, and diffuse or partial (summary by Fazelifar et al., 2005).

ATRIAL STANDSTILL 2; ATRST2 Is also known as cardiomyopathy, atrial dilated, with atrial standstill|atrial dilation and standstill

Related symptoms:

  • Cardiomyopathy
  • Congestive heart failure
  • Dyspnea
  • Scarring
  • Stroke


SOURCES: OMIM MENDELIAN

More info about ATRIAL STANDSTILL 2; ATRST2

Top 5 symptoms//phenotypes associated to Congestive heart failure and Spastic paraplegia

Symptoms // Phenotype % cases
Cardiomyopathy Common - Between 50% and 80% cases
Arrhythmia Common - Between 50% and 80% cases
Scoliosis Uncommon - Between 30% and 50% cases
Muscle weakness Uncommon - Between 30% and 50% cases
Diarrhea Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Global developmental delay Hepatosplenomegaly Osteopenia Headache Visual impairment Spasticity Ataxia Splenomegaly Constipation Hearing impairment Kyphosis Spastic paraparesis Hepatomegaly Cognitive impairment Protuberant abdomen Short stature Vomiting Dyspnea Nystagmus Seizures Sensorineural hearing impairment Corneal opacity Glaucoma Intellectual disability Abdominal pain Recurrent respiratory infections Dementia Palpitations Abnormality of eye movement Abnormal pyramidal sign Kyphoscoliosis Pes cavus Depressivity Cardiomegaly Dilated cardiomyopathy Motor delay Growth delay Macroglossia Myelopathy Hirsutism Talipes equinovarus Tachycardia Failure to thrive Flexion contracture Proximal muscle weakness Joint stiffness Dysphagia

Rare Symptoms - Less than 30% cases


Reduced systolic function Heparan sulfate excretion in urine Thoracic scoliosis Hernia of the abdominal wall Hyperactive deep tendon reflexes Hip subluxation Lower limb spasticity Left ventricular hypertrophy Neurodegeneration J-shaped sella turcica Rhinitis Abnormality of the gingiva Abnormal nerve conduction velocity Lower limb muscle weakness Abnormal diaphysis morphology Abnormality of skin pigmentation Sagittal craniosynostosis Flared iliac wings Abnormal bleeding Cor pulmonale Communicating hydrocephalus Tracheal stenosis Dysostosis multiplex Inability to walk Dermatan sulfate excretion in urine Urinary glycosaminoglycan excretion Generalized myoclonic seizures Stroke Ptosis Skeletal muscle atrophy Optic atrophy Dystonia Babinski sign Myoclonus Hypertrophic cardiomyopathy Retinopathy Increased size of nasopharyngeal adenoids Tetraplegia Mitral regurgitation Limb muscle weakness Congenital hip dislocation Easy fatigability Abnormality of glycosaminoglycan metabolism Ketosis Gait disturbance Fatigue Abnormality of lysosomal metabolism Visual loss Abnormality of the tonsils Abnormality of mucopolysaccharide metabolism Pallor Syncope Decreased body weight Progressive neurologic deterioration Generalized hirsutism Asthma Limitation of joint mobility Hip dysplasia Progressive visual loss Microdontia Abnormality of the ribs Lumbar hyperlordosis Recurrent otitis media Abnormal form of the vertebral bodies Thickened skin Abnormal vertebral morphology Elbow flexion contracture Coxa valga Sleep disturbance Abnormality of dental enamel Opacification of the corneal stroma Widely spaced teeth Increased intracranial pressure Back pain Heart murmur Toe walking Multiple joint contractures Peripheral visual field loss Restrictive ventilatory defect Abnormal heart valve morphology Arthropathy Obstructive sleep apnea Thick vermilion border Spinal canal stenosis Proptosis Exertional dyspnea Hypertelorism Micrognathia Abnormal facial shape Depressed nasal bridge Macrocephaly Anteverted nares Short neck Respiratory insufficiency Abnormality of the dentition Hernia Inguinal hernia Skeletal dysplasia Wide nose Coarse facial features Umbilical hernia Conductive hearing impairment Diastasis recti Craniosynostosis Camptodactyly of finger Constrictive median neuropathy Pectus carinatum Dolichocephaly Carious teeth Synophrys Genu valgum Retinal degeneration Nyctalopia Abnormality of the cardiovascular system Multiple myeloma Elevated hepatic transaminase Paraparesis Bradycardia Insulin resistance Long eyelashes Atrial fibrillation Hemiparesis Ventricular hypertrophy Generalized muscle weakness Muscular dystrophy Peripheral demyelination Peripheral axonal neuropathy Neonatal hypotonia Diabetes mellitus Cachexia Osteoporosis Delayed skeletal maturation Elevated serum creatine phosphokinase Arthritis Pain Peripheral neuropathy Dysarthria Myopathy Areflexia Hydrocephalus Abnormality of the skeletal system Hypertension Feeding difficulties Muscle stiffness Generalized hypotonia Prominent supraorbital ridges Reduced bone mineral density Ventricular arrhythmia Atlantoaxial dislocation Progressive proximal muscle weakness Exercise intolerance Limited shoulder movement Short tubular bones of the hand Small abnormally formed scapulae Abnormality of the breast Dilated third ventricle Hyperinsulinemia Exercise-induced muscle stiffness Dilatation Pointed chin Recurrent infections Abnormality of the acetabulum Otitis media Pyloric stenosis Thickened ribs Progressive flexion contractures Optic nerve compression Frontal hirsutism Cervical instability Polycystic ovaries Delayed menarche Lipodystrophy Abnormality of the skull base Posterior scalloping of vertebral bodies Abnormality of the styloid process of ulna Prominent forehead Pneumonia Long philtrum Behavioral abnormality Edema Frontal bossing Astigmatism Wide nasal bridge Delayed speech and language development Muscular hypotonia Abnormality of the humeral epiphysis Contractures of the joints of the upper limbs Abnormality of the sella turcica Cutis marmorata Widely patent coronal suture Skeletal muscle hypertrophy Abnormality of the lumbar spine Abnormality of the glenoid fossa Abnormality of cranial sutures Anterior scalloping of vertebral bodies Abnormality of femoral epiphysis Abnormal metaphyseal trabeculation Ventricular fibrillation Failure to thrive in infancy Mitral valve calcification Rigidity Hypothyroidism Short ribs Spinal cord compression Chronic sinusitis Abnormality of retinal pigmentation Papilledema Blepharitis Sudden cardiac death Growth hormone deficiency Epidermal acanthosis Hyperlipidemia Aortic valve stenosis Hypertriglyceridemia Hypoplastic iliac wing Thin skin Acanthosis nigricans Abnormality of dental morphology Accelerated skeletal maturation Chronic otitis media Sparse and thin eyebrow Coarse hair Knee flexion contracture Recurrent bacterial infections Arnold-Chiari malformation Abnormality of the metacarpal bones Hepatic steatosis Abnormality of the ulna Delayed gross motor development Abnormal cornea morphology Abnormality of the optic disc Aortic valve calcification Abnormality of the radius Corneal crystals Peripheral edema Ventricular tachycardia Pancreatitis Wide cranial sutures Platybasia Carpal bone hypoplasia Myalgia Nasal obstruction Shield chest Apnea Postnatal growth retardation Protruding ear Dilation of lateral ventricles Sparse pubic hair Broad ribs Sparse axillary hair Distal muscle weakness Hydrocele testis Atherosclerosis Hyperlordosis Dry skin Mental deterioration Thoracolumbar kyphoscoliosis Flaring of rib cage Mandibular condyle hypoplasia Cervical subluxation Hypoplastic cervical vertebrae Enlarged tonsils C1-C2 subluxation Calcification of falx cerebri Hypoplasia of the femoral head Abnormality of the pubic bone Lumbar kyphosis Abnormal CNS myelination Cervical kyphosis Short mandibular rami Calvarial hyperostosis Abnormality of joint mobility Cervical myelopathy Abnormality of the middle ear ossicles Enlargement of the wrists Abnormal hand morphology Prominent sternum Anterior rib cupping Large sella turcica Flared nostrils Narrow pelvis bone Meckel diverticulum Anterior open bite Difficulty standing Sclerosis of skull base Large face Broad ischia Delayed tarsal ossification Biconcave vertebral bodies Vascular skin abnormality Hyperpepsinogenemia I Dilatation of the ventricular cavity Atrial standstill Atrial arrhythmia Scarring Triangular tongue Increased connective tissue Calf muscle hypertrophy Limb-girdle muscular dystrophy Progressive muscle weakness Tetraparesis Hypertrophy of the upper limb Hypertrophy of the lower limb Peripheral arteriovenous fistula Varicose veins Thick skull base Nevus flammeus Telangiectasia of the skin Delayed ossification of the hand bones Abnormal mandibular ramus morphology Abnormality of premolar morphology Abnormal mandible coronoid process morphology Stiff interphalangeal joints Abnormality of the tympanic membrane Abnormality of the wing of the ilium Broad long bone diaphyses Bullet-shaped phalanges of the hand Proximal tapering of metacarpals Enlarged vertebral pedicles Deformed humerus Mucopolysacchariduria Chronic rhinitis Wide mouth Chronic diarrhea Stridor Language impairment Hemiplegia Recurrent upper respiratory tract infections Hyperammonemia Sleep apnea Corneal dystrophy Progressive hearing impairment Cerebral palsy Aortic regurgitation Coxa vara Exotropia Gingival overgrowth Abnormality of epiphysis morphology Encephalocele Flared metaphysis Split hand Hypertrichosis Myocardial infarction Interphalangeal joint contracture of finger Intellectual disability, profound Abnormality of the skin Full cheeks Broad nasal tip Delayed eruption of teeth Everted lower lip vermilion High, narrow palate Thick eyebrow Mildly elevated creatine phosphokinase Severe global developmental delay Metatarsus adductus Coronary artery atherosclerosis Retinal fold Angina pectoris Recurrent ear infections Diaphyseal thickening Delayed ossification of carpal bones Broad femoral neck Rhinorrhea Abnormality of peripheral nerve conduction Hypoplasia of teeth Abnormal aortic valve morphology Endocardial fibroelastosis Seborrheic dermatitis Abnormal mitral valve morphology Pulmonary edema Foam cells Conical tooth Hypoplastic ilia Thickened calvaria Upper airway obstruction Large earlobe Beaking of vertebral bodies Abnormality of the respiratory system Gingivitis Abnormality of the clavicle Abnormality of the skull Recurrent lower respiratory tract infections Abnormality of the elbow Shallow orbits Palpebral edema Hypoplasia of the odontoid process Short clavicles Protruding tongue Increased variability in muscle fiber diameter Secondary amenorrhea Prolonged QT interval Sensory neuropathy Spastic gait Limb ataxia Weight loss Involuntary movements Clumsiness Intention tremor Optic disc pallor Sensory impairment Chorea Chest pain Progressive cerebellar ataxia Abnormal cerebellum morphology Facial palsy Malabsorption Reduced tendon reflexes Falls Vertigo Unsteady gait Dysmetria Paraplegia Abnormality of movement Paresthesia Abnormality of the foot Nephropathy Polyneuropathy Difficulty walking Pes planus Coma Reduced visual acuity Truncal ataxia Slurred speech Cerebral cortical atrophy Myocardial fibrosis Abnormality of cardiovascular system physiology Positive Romberg sign Lower limb amyotrophy Abnormal echocardiogram Poor fine motor coordination T-wave inversion Subvalvular aortic stenosis Asymmetric septal hypertrophy Impaired proprioception Gait imbalance Spinocerebellar tract degeneration Hyposmia Areflexia of lower limbs Increased reactive oxygen species production Incoordination Ketoacidosis Urinary bladder sphincter dysfunction Heart block Abnormality of visual evoked potentials Abnormal EKG Optic neuropathy Hyporeflexia Visual field defect Glucose intolerance Decreased motor nerve conduction velocity Sensory axonal neuropathy Hammertoe Impaired vibratory sensation Dysdiadochokinesis Gait ataxia Hyperactivity Sinus tachycardia Axonal degeneration Respiratory tract infection Developmental regression Rheumatoid arthritis Acidosis Respiratory failure Cerebral hemorrhage Impotence Absent speech Malnutrition Hypertonia Blindness Aphasia Hyperreflexia Orthostatic hypotension Ophthalmoplegia Decreased number of peripheral myelinated nerve fibers Amyloidosis Microcephaly Syringomyelia Amyloid deposition in the vitreous humor Cardiac amyloidosis Vitreous floaters Orthostatic hypotension due to autonomic dysfunction Psychomotor deterioration Urinary retention Sensory ataxia Abnormal renal physiology Increased CSF protein Restrictive cardiomyopathy Atrioventricular block Lactic acidosis Gliosis Paraganglioma Urinary incontinence Migraine Hypotension Cerebellar atrophy Respiratory distress Neuronal loss in central nervous system Stress/infection-induced lactic acidosis Left ventricular systolic dysfunction Abnormal mitochondria in muscle tissue Decreased activity of mitochondrial complex II Progressive leukoencephalopathy Increased intramyocellular lipid droplets Hemolytic-uremic syndrome Left ventricular noncompaction Abnormal autonomic nervous system physiology Ketonuria Preeclampsia Bilateral sensorineural hearing impairment Rhabdomyolysis Oral-pharyngeal dysphagia Ragged-red muscle fibers Leukoencephalopathy External ophthalmoplegia Hallucinations Leukodystrophy Vasculitis Spastic tetraplegia Pigmentary retinopathy Increased serum lactate Abnormal saccadic eye movements Hand muscle atrophy Hypermetropia Avascular necrosis of the capital femoral epiphysis Erlenmeyer flask deformity of the femurs Orthopnea Abnormal platelet function Arthralgia of the hip Flank pain Abnormality of bone marrow cell morphology Spontaneous hematomas Fractures of the long bones Hypersplenism Esodeviation Periorbital edema Generalized osteosclerosis Abnormality of the spleen Abnormal myocardium morphology Biliary tract obstruction Supranuclear gaze palsy Vertebral compression fractures Edema of the lower limbs Increased serum ferritin Bipolar affective disorder Hepatocellular carcinoma Gingival bleeding Aseptic necrosis Generalized muscle hypertrophy Pathologic fracture Interstitial pulmonary abnormality Pericardial effusion Petechiae Abnormality of coagulation Vascular calcification Puberty and gonadal disorders Osteomyelitis Generalized lipodystrophy Platyspondyly Reduced subcutaneous adipose tissue Spinal rigidity Lipoatrophy Stroke-like episode IgA deficiency Supraventricular tachycardia Arthralgia Prominent superficial veins Exercise-induced myalgia Retrognathia Ileus Hyperkeratosis Severe short stature Decreased beta-glucocerebrosidase protein and activity Prolonged QTc interval Intellectual disability, mild Dysmenorrhea Loss of subcutaneous adipose tissue in limbs Fasting hyperinsulinemia Abnormal levels of creatine kinase in blood Polymorphic ventricular tachycardia Atlantoaxial instability Congenital generalized lipodystrophy Abnormality of upper lip Prominent umbilicus Horizontal supranuclear gaze palsy Cardiac valve calcification Hematological neoplasm Increased antibody level in blood Menorrhagia Renal insufficiency Palmar hyperhidrosis Proteinuria EEG abnormality Fever Tremor Thrombocytopenia Myopia Anemia Strabismus Atrophic superior cerebellar peduncle Impaired visually enhanced vestibulo-ocular reflex Structural foot deformity Abolished vibration sense Spinal cord posterior columns myelin loss Temporal optic disc pallor Neurological speech impairment Abnormality of the dentate nucleus Decreased pyruvate carboxylase activity Mitochondrial malic enzyme reduced Cervical spinal cord atrophy Muscular subvalvular aortic stenosis Decreased amplitude of sensory action potentials Hemifacial hypertrophy Abnormality of the autonomic nervous system Incomprehensible speech Upper limb amyotrophy Cerebellar cortical atrophy Concentric hypertrophic cardiomyopathy Diabetic ketoacidosis Decreased sensory nerve conduction velocity Abnormality of the eye Delayed puberty Leukocytosis Cervical spine instability Clubbing Abnormality of the thorax Portal hypertension Cholelithiasis Increased susceptibility to fractures Leukopenia Oculomotor apraxia Osteolysis Meningitis Increased bone mineral density Bone pain Hepatic fibrosis Anorexia Osteoarthritis Lymphadenopathy Abnormality of skeletal muscle fiber size Epistaxis Pulmonary arterial hypertension Pancytopenia Apraxia Muscle mounding Cyanosis Adipose tissue loss Parkinsonism Abdominal distention Ascites Hematuria Bruising susceptibility Cirrhosis Atrial cardiomyopathy



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