Hyperreflexia, and Glomerulonephritis

Diseases related with Hyperreflexia and Glomerulonephritis

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

Top matches:

Primary CoQ10 deficiency is a rare, clinically heterogeneous autosomal recessive disorder caused by mutation in any of the genes encoding proteins directly involved in the synthesis of coenzyme Q (review by Quinzii and Hirano, 2011). Coenzyme Q10 (CoQ10), or ubiquinone, is a mobile lipophilic electron carrier critical for electron transfer by the mitochondrial inner membrane respiratory chain (Duncan et al., 2009).The disorder has been associated with 5 major phenotypes, but the molecular basis has not been determined in most patients with the disorder and there are no clear genotype/phenotype correlations. The phenotypes include an encephalomyopathic form with seizures and ataxia (Ogasahara et al., 1989); a multisystem infantile form with encephalopathy, cardiomyopathy and renal failure (Rotig et al., 2000); a predominantly cerebellar form with ataxia and cerebellar atrophy (Lamperti et al., 2003); Leigh syndrome with growth retardation (van Maldergem et al., 2002); and an isolated myopathic form (Lalani et al., 2005). The correct diagnosis is important because some patients may show a favorable response to CoQ10 treatment. Genetic Heterogeneity of Primary Coenzyme Q10 DeficiencySee also COQ10D2 (OMIM ), caused by mutation in the PDSS1 gene (OMIM ) on chromosome 10p12; COQ10D3 (OMIM ), caused by mutation in the PDSS2 gene (OMIM ) on chromosome 6q21; COQ10D4 (OMIM ), caused by mutation in the COQ8 gene (ADCK3 ) on chromosome 1q42; COQ10D5 (OMIM ), caused by mutation in the COQ9 gene (OMIM ) on chromosome 16q21; COQ10D6 (OMIM ), caused by mutation in the COQ6 gene (OMIM ) on chromosome 14q24; COQ10D7 (OMIM ), caused by mutation in the COQ4 gene (OMIM ) on chromosome 9q34; and COQ10D8 (OMIM ), caused by mutation in the COQ7 gene (OMIM ) on chromosome 16p13.Secondary CoQ10 deficiency has been reported in association with glutaric aciduria type IIC (MADD ), caused by mutation in the ETFDH gene (OMIM ) on chromosome 4q, and with ataxia-oculomotor apraxia syndrome-1 (AOA1 ), caused by mutation in the APTX gene (OMIM ) on chromosome 9p13.

COENZYME Q10 DEFICIENCY, PRIMARY, 1; COQ10D1 Is also known as ubiquinone deficiency 1|coq10 deficiency, primary, 1|coq deficiency 1|coenzyme q deficiency 1

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about COENZYME Q10 DEFICIENCY, PRIMARY, 1; COQ10D1

Ligneous conjunctivitis (LC) is a rare form of chronic conjunctivitis characterised by the recurrent formation of pseudomembranous lesions most commonly on the palpebral surfaces. It is most frequently reported as a clinical manifestation of severe homozygous or compound-heterozygous hypoplasminogenemia (see this term).

LIGNEOUS CONJUNCTIVITIS Is also known as conjunctivitis lignosa

Related symptoms:

  • Global developmental delay
  • Hyperreflexia
  • Macrocephaly
  • Hydrocephalus
  • Blindness


SOURCES: ORPHANET MENDELIAN

More info about LIGNEOUS CONJUNCTIVITIS

Oculocerebrorenal syndrome of Lowe (OCRL) is a multisystem disorder characterized by congenital cataracts, glaucoma, intellectual disabilities, postnatal growth retardation and renal tubular dysfunction with chronic renal failure.

OCULOCEREBRORENAL SYNDROME OF LOWE Is also known as oculocerebrorenal dystrophy|phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency|oculo-cerebro-renal dystrophy|oculo-cerebro-renal syndrome|lowe disease|ocrl1|ocrl|ocr|lowe syndrome|phosphatidylinositol 4,5-bisphosphate 5-phosphatase deficiency|l

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about OCULOCEREBRORENAL SYNDROME OF LOWE

Other less relevant matches:

Severe hypoplasminogenemia (HPG) or type 1 plasminogen (plg) deficiency is a systemic disease characterised by markedly impaired extracellular fibrinolysis leading to the formation of ligneous (fibrin-rich) pseudomembranes on mucosae during wound healing.

HYPOPLASMINOGENEMIA Is also known as plasminogen deficiency type 1

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Hyperreflexia
  • Macrocephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYPOPLASMINOGENEMIA

Isolated complex III deficiency is a rare, genetic, mitochondrial oxidative phosphorylation disorder characterized by a wide spectrum of clinical manifestations ranging from isolated myopathy or transient hepatopathy to severe multisystem disorder (that may include hypotonia, failure to thrive, psychomotor delay, cardiomyopathy, encephalopathy, renal tubulopathy, hearing impairment, lactic acidosis, hypoglycemia and other signs and symptoms).

ISOLATED COMPLEX III DEFICIENCY Is also known as isolated coq-cytochrome c reductase deficiency|isolated ubiquinone-cytochrome c reductase deficiency|isolated mitochondrial respiratory chain complex iii deficiency|isolated coenzyme q-cytochrome c reductase deficiency

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ISOLATED COMPLEX III DEFICIENCY

Autosomal dominant intermediate Charcot-Marie-Tooth disease type E is a rare hereditary motor and sensory neuropathy disorder characterized by the typical CMT phenotype (slowly progressive distal muscle weakness and atrophy in upper and lower limbs, distal sensory loss in extremities, reduced or absent deep tendon reflexes and foot deformities) associated with focal segmental glomerulosclerosis (manifesting with proteinuria and progression to end-stage renal disease). Mild or moderate sensorineural hearing loss may also been associated. Nerve biopsy reveals both axonal and demyelinating changes and nerve conduction velocities vary from the demyelinating to axonal range (typically between 25-50m/sec.

AUTOSOMAL DOMINANT INTERMEDIATE CHARCOT-MARIE-TOOTH DISEASE TYPE E Is also known as cmtdie|charcot-marie-tooth disease-nephropathy syndrome|charcot-marie-tooth neuropathy with focal segmental glomerulonephritis

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Muscle weakness
  • Fever
  • Skeletal muscle atrophy


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT INTERMEDIATE CHARCOT-MARIE-TOOTH DISEASE TYPE E

Low match PGM3-CDG

PGM3-CDG is a rare congenital disorder of glycosylation caused by mutations in the PGM3 gene and characterized by neonatal to childhood onset of recurrent bacterial and viral infections, inflammatory skin diseases, atopic dermatitis and atopic diatheses, and marked serum IgE elevation. Early neurologic impairment is evident including developmental delay, intellectual disability, ataxia, dysarthria, sensorineural hearing loss, myoclonus and seizures.

PGM3-CDG Is also known as cid due to pgm3 deficiency|immunodeficiency with hyper ige and cognitive impairment|pgm3-related congenital disorder of glycosylation|combined immunodeficiency due to pgm3 deficiency|immunodeficiency-vasculitis-myoclonus syndrome|ivms

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about PGM3-CDG

Retinal vasculopathy and cerebral leukodystrophy (RVCL) is an inherited group of small vessel diseases comprised of cerebroretinal vasculopathy (CRV), hereditary vascular retinopathy (HRV) and hereditary endotheliopathy with retinopathy, nephropathy and stroke (HERNS; see these terms); all exhibiting progressive visual impairment as well as variable cerebral dysfunction.

RETINAL VASCULOPATHY WITH CEREBRAL LEUKOENCEPHALOPATHY AND SYSTEMIC MANIFESTATIONS Is also known as retinopathy, vascular, with cerebral and renal involvement and raynaud and migraine phenomena|cerebroretinal vasculopathy, hereditary|crv|retinal vasculopathy and cerebral leukoencephalopathy|rvcl|rvcl-s

Related symptoms:

  • Seizures
  • Ataxia
  • Neoplasm
  • Pain
  • Visual impairment


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about RETINAL VASCULOPATHY WITH CEREBRAL LEUKOENCEPHALOPATHY AND SYSTEMIC MANIFESTATIONS

Williams syndrome is a rare genetic multisystemic neurodevelopmental disorder characterized by a distinct facial appearance, cardiac anomalies (most frequently supravalvular aortic stenosis), cognitive and developmental abnormalities, and connective tissue abnormalities (such as joint laxity)

WILLIAMS SYNDROME Is also known as deletion 7q11.23|williams syndrome|williams-beuren syndrome|chromosome 7q11.23 deletion syndrome, 1.5- to 1.8-mb|wms|monosomy 7q11.23|ws

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about WILLIAMS SYNDROME

Hypocomplementemic urticarial vasculitis (HUV) is an immune complex-mediated small vessel vasculitis characterized by urticaria and hypocomplementemia (low C1q with or without low C3 and C4), and usually associated with circulating anti-C1q autoantibodies. Arthritis, pulmonary disease, ocular inflammation, and glomerulonephritis are common systemic manifestations.

HYPOCOMPLEMENTEMIC URTICARIAL VASCULITIS Is also known as mac duffie syndrome|mac duffie hypocomplementemic urticarial vasculitis|anti-c1q vasculitis|mcduffie hypocomplementemic urticarial vasculitis|mcduffie syndrome

Related symptoms:

  • Seizures
  • Ataxia
  • Sensorineural hearing impairment
  • Pain
  • Peripheral neuropathy


SOURCES: ORPHANET MENDELIAN

More info about HYPOCOMPLEMENTEMIC URTICARIAL VASCULITIS

Top 5 symptoms//phenotypes associated to Hyperreflexia and Glomerulonephritis

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
Ataxia Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Hyperreflexia and Glomerulonephritis. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Sensorineural hearing impairment

Uncommon Symptoms - Between 30% and 50% cases

Nephritis

Common Symptoms - More than 50% cases

Proteinuria

Uncommon Symptoms - Between 30% and 50% cases

Intellectual disability Failure to thrive Cognitive impairment Nephrolithiasis Visual loss Glomerulopathy Dysarthria Blindness Renal insufficiency Cataract Short stature Scoliosis Hematuria Pain Chronic otitis media Macrocephaly Feeding difficulties in infancy Vasculitis Gingivitis Cerebellar hypoplasia Recurrent otitis media Gingival overgrowth Conjunctivitis Metabolic acidosis Periodontitis Gastroesophageal reflux Recurrent respiratory infections Hyporeflexia Depressivity Behavioral abnormality Visual impairment Sensory impairment Feeding difficulties Joint hyperflexibility Abnormal facial shape Skeletal muscle atrophy Anemia Spasticity Hypertrophic cardiomyopathy Acidosis Nystagmus Muscle weakness Growth delay Stroke

Rare Symptoms - Less than 30% cases

Elevated hepatic transaminase Arthritis Dementia Anxiety Coarse facial features Kyphosis Developmental regression Hypertonia Intellectual disability, moderate Low-set, posteriorly rotated ears Retinopathy Small for gestational age EEG abnormality Peripheral neuropathy Nausea and vomiting Umbilical hernia Long philtrum Microcephaly Sinusitis Epicanthus Glaucoma Hemiparesis Constipation Inguinal hernia Abnormality of the dentition Areflexia Hoarse voice Protruding ear Irritability Obsessive-compulsive behavior Lymphoma Nephrocalcinosis Cryptorchidism Abnormality of dental enamel Hypercalciuria Abnormality of the voice Open bite Open mouth Cardiomegaly Tubulointerstitial nephritis Multiple renal cysts Patellar dislocation Hyperphosphaturia Lacrimation abnormality Amblyopia Dehydration Food intolerance Carious teeth Joint stiffness Attention deficit hyperactivity disorder Corneal opacity Sensory neuropathy Congenital cataract Malabsorption Otitis media Increased serum lactate Genu valgum Asthma Everted lower lip vermilion Scarring Vasculitis in the skin Full cheeks Aminoaciduria Reduced visual acuity Strabismus Nephropathy Arthralgia Myoglobinuria Focal segmental glomerulosclerosis Glomerulosclerosis Failure to thrive in infancy Ragged-red muscle fibers Exercise intolerance Abdominal pain Micrognathia Apraxia Memory impairment Aciduria Postural instability Hepatic failure Papule Lactic acidosis Muscular hypotonia of the trunk Myoclonus Rod-cone dystrophy Elevated serum creatine phosphokinase Encephalopathy Cerebral atrophy Intellectual disability, mild Cerebellar atrophy Cardiomyopathy Respiratory distress Gait disturbance Motor delay Hydrocephalus Muscular hypotonia Dandy-Walker malformation Abnormality of fontanelles Recurrent bronchitis Stomatitis Premature loss of teeth Duodenal ulcer Gastrointestinal inflammation Epiphora Keratoconjunctivitis Recurrent upper respiratory tract infections Abnormality of the gallbladder Abnormality of the mediastinum Poor wound healing Chronic irritative conjunctivitis Recurrent pneumonia Vaginitis Cervicitis Recurrent pharyngitis Abnormality of the larynx Abnormality of vision Schizophrenia Abnormality of pelvic girdle bone morphology Adducted thumb Reduced bone mineral density Abnormal heart morphology Arnold-Chiari malformation Hemivertebrae Abnormality of the fingernails Infantile muscular hypotonia Ischemic stroke Sacral dimple Spina bifida occulta Cutis laxa Bicuspid aortic valve Widely spaced teeth Patent ductus arteriosus Progressive hearing impairment Abnormal dermatoglyphics Incoordination Precocious puberty Polycystic ovaries Pectus excavatum Absent speech Premature graying of hair Craniosynostosis Hernia Blepharophimosis Hallux valgus Abnormal cardiac septum morphology Broad forehead Neurological speech impairment Obesity Loss of consciousness Dysphonia Polyuria Glucose intolerance Tracheoesophageal fistula Hypoplastic toenails Abnormality of dental morphology Unilateral renal agenesis Portal hypertension Radioulnar synostosis Hypercalcemia Redundant skin Cholelithiasis Delayed skeletal maturation Increased bone mineral density Hypogonadotrophic hypogonadism Dysmetria Tetralogy of Fallot Microdontia High forehead Renal agenesis Esotropia Dental malocclusion Vesicoureteral reflux Macrotia Chest pain Sudden cardiac death Smooth philtrum Kyphoscoliosis Macroglossia Hypothyroidism Broad nasal tip Osteopenia Hypodontia Pes planus Joint laxity Sleep disturbance Cleft lip Abnormality of the kidney Thick vermilion border Hyperlordosis Autistic behavior Paralysis Abnormality of the cardiovascular system Narrow forehead Pointed chin Diabetes mellitus Increased body weight Oral cleft Narrow face Aortic valve stenosis Recurrent urinary tract infections Involuntary movements Abnormal form of the vertebral bodies Clinodactyly of the 5th finger Mitral regurgitation Osteoporosis Myocardial infarction Thick lower lip vermilion Small nail Hypotelorism Wide mouth Renal hypoplasia Pulmonic stenosis Type II diabetes mellitus Hypsarrhythmia Coarctation of aorta Cerebral cortical atrophy Abnormality of extrapyramidal motor function Micropenis Hypoplasia of penis Autism Mitral valve prolapse Ventricular hypertrophy Overriding aorta Vertebral segmentation defect Abnormality of the diencephalon Atrophy/Degeneration involving the corticospinal tracts Vocal cord dysfunction Descending aorta hypoplasia Functional abnormality of male internal genitalia Stellate iris Dyssynergia Early onset of sexual maturation Overfriendliness Nystagmus-induced head nodding Thyroid hemiagenesis Bilateral vocal cord paralysis Elfin facies Medial flaring of the eyebrow Abnormal carotid artery morphology Diarrhea Paroxysmal bursts of laughter Myxomatous mitral valve degeneration Unilateral renal hypoplasia Calcification of the aorta Impaired visuospatial constructive cognition Supravalvular aortic stenosis Flat cornea Abnormal social behavior Renovascular hypertension Abnormality of the gastric mucosa Infantile hypercalcemia Pelvic kidney Hyperacusis Hepatomegaly Splenomegaly Coronary artery stenosis Hemiplegia/hemiparesis Obstructive lung disease Episcleritis Immunologic hypersensitivity Complement deficiency Angioedema Inflammatory abnormality of the eye Uveitis Irregular hyperpigmentation Hemoptysis Abnormal heart valve morphology Pericardial effusion Restrictive ventilatory defect Emphysema Pleural effusion Dyspnea Urticaria Reduced tendon reflexes Cerebral palsy Cranial nerve paralysis Joint dislocation Recurrent bacterial infections Meningitis Ascites Lymphadenopathy Pruritus Cough Skin rash Autoimmunity Myalgia Retinal arteriolar tortuosity Renal artery stenosis Celiac disease Down-sloping shoulders Abnormality of refraction Cerebral ischemia Dyslexia Villous atrophy Enuresis Abnormality of the cerebral vasculature Abnormality of the neck Large earlobe Right ventricular hypertrophy Chronic constipation Hypoplasia of the zygomatic bone Blue irides Vocal cord paralysis Abnormality of the vasculature Periorbital fullness Pulmonary artery stenosis Poor coordination Soft skin Nevus flammeus Arnold-Chiari type I malformation Posterior embryotoxon Abnormality of lipid metabolism Megalocornea Insomnia Restlessness Facial cleft Prematurely aged appearance High hypermetropia Gait imbalance Decreased plasma carnitine Abnormality of the bladder Retinal vascular tortuosity Synostosis of joints Nocturia Obsessive-compulsive trait Aortic arch aneurysm Malar flattening Tubulointerstitial abnormality Abnormality of the ankles Vascular tortuosity Colonic diverticula Renal duplication Aplasia/Hypoplasia of the iris Abnormal endocardium morphology Thyroid hypoplasia Increased nuchal translucency Peripheral pulmonary artery stenosis Abnormal glucose tolerance Urethral stenosis Parathyroid hyperplasia Phonophobia Abnormality of nervous system morphology Dysgraphia Arterial stenosis Rectal prolapse Periorbital edema Peptic ulcer Cystic renal dysplasia Bladder diverticulum Abnormal renal morphology Subvalvular aortic stenosis Midface retrusion Split hand Short nose Dysphasia Generalized hypopigmentation Renal tubular dysfunction Taurodontia Hyperaldosteronism Atypical scarring of skin Joint swelling Renal tubular acidosis Osteomalacia Abnormal joint morphology Hyperparathyroidism Pathologic fracture Congenital glaucoma Hypophosphatemia Buphthalmos Diabetes insipidus Flat occiput Hyponatremia Self-injurious behavior Rickets Hypokalemia Deep philtrum Reduced number of teeth Hypercholesterolemia Neoplasm of the skin Azoospermia Narrow palate Atelectasis Abnormal pupil morphology Skin ulcer Finger swelling Abnormality of the eye Pneumonia Abnormality of metabolism/homeostasis Hypoplasia of the corpus callosum Dense posterior cortical cataract Hypoammonemia Wrist swelling Lentiglobus Abnormality of dentin Bicarbonaturia Elevated maternal serum alpha-fetoprotein Odontogenic neoplasm Elevated amniotic fluid alpha-fetoprotein Abnormality of the renal tubule Periventricular cysts Benign neoplasm of the central nervous system Elevated serum acid phosphatase Abnormality of calcium-phosphate metabolism Chorioretinal dysplasia Oligosacchariduria Vitamin D deficiency Proximal renal tubular acidosis Urogenital fistula Renal Fanconi syndrome Keloids Cheilitis Joint contracture of the hand Clonus Venous thrombosis Progressive muscle weakness Rapid neurologic deterioration Exercise-induced myoglobinuria Recurrent myoglobinuria Glutaric aciduria Steroid-resistant nephrotic syndrome Scanning speech Tubular atrophy Generalized amyotrophy Ophthalmoparesis Hyperextensible skin Oculomotor apraxia Hypergonadotropic hypogonadism Progressive neurologic deterioration Hypercoagulability Status epilepticus Pancytopenia Nephrotic syndrome Bilateral sensorineural hearing impairment Specific learning disability Progressive cerebellar ataxia Muscle cramps Abnormal pyramidal sign Respiratory failure Hypogonadism Fatigue Optic atrophy Crescentic glomerulonephritis Frontal bossing Abnormality of epiphysis morphology Joint hypermobility Stereotypy Dental crowding Hypoplasia of dental enamel Subcutaneous nodule Abnormality of the metaphysis Osteoarthritis Sparse scalp hair Fine hair Abnormality of the ribs Abnormal bleeding Recurrent fractures Delayed eruption of teeth Long face Ventriculomegaly Delayed puberty Platyspondyly Hip dislocation Camptodactyly of finger Aggressive behavior Neonatal hypotonia Deeply set eye Thin upper lip vermilion Mandibular prognathia Upslanted palpebral fissure Thrombocytopenia Microphthalmia Respiratory insufficiency Abnormality of the skin Abnormality of the ear Congestive heart failure Cortical myoclonus Elevated erythrocyte sedimentation rate Leukoencephalopathy Leukodystrophy Telangiectasia Progressive visual loss Migraine Cirrhosis Lower limb muscle weakness Mental deterioration Headache Edema Neoplasm Autoimmune neutropenia Abnormality of the periventricular white matter Membranoproliferative glomerulonephritis Allergic rhinitis Severe combined immunodeficiency Atopic dermatitis Combined immunodeficiency Recurrent skin infections Leukopenia Narrow palpebral fissure Lymphopenia Bronchiectasis Inflammatory abnormality of the skin Eczema Lower limb hyperreflexia Aseptic necrosis Hemolytic anemia Cleft palate Myopathy Atrial septal defect Ventricular septal defect Tremor Intrauterine growth retardation Myopia Wide nasal bridge Hypertension Depressed nasal bridge Delayed speech and language development Flexion contracture Ptosis Punctate vasculitis skin lesions Chronic sinusitis Diminished ability to concentrate Progressive forgetfulness Focal white matter lesions Retinal exudate Central nervous system degeneration Limb pain Retinal hemorrhage Micronodular cirrhosis Abnormality of the retinal vasculature Brain neoplasm Macular edema Raynaud phenomenon Neutropenia Erythema Abnormality of the respiratory system Hypertrichosis Proximal tubulopathy Cholangitis Rhabdomyolysis Glycosuria Abnormality of the coagulation cascade Emotional lability Brittle hair Spastic tetraparesis Severe muscular hypotonia Decreased liver function Hallucinations Cholestasis Tetraparesis Microvesicular hepatic steatosis Pigmentary retinopathy Delayed myelination Coma Hypoglycemia Vomiting Pneumomediastinum Decreased level of plasminogen Geographic tongue Reduced factor XII activity Abnormality of the fallopian tube Abnormality of the middle ear Abnormality of the ovary Hyperechogenic kidneys Abnormality of the abdominal wall Respiratory tract infection Steppage gait Abnormality of the nervous system Conductive hearing impairment Recurrent infections Immunodeficiency Abnormality of the skeletal system Brachydactyly High palate Distal upper limb amyotrophy Mild proteinuria Distal lower limb amyotrophy Onion bulb formation Axonal loss Hammertoe Histiocytoid cardiomyopathy Foot dorsiflexor weakness Frequent falls Distal sensory impairment Distal amyotrophy Falls Stage 5 chronic kidney disease Distal muscle weakness Pes cavus Fever Postterm pregnancy Decreased mitochondrial complex III activity in liver tissue Persistent lactic acidosis Mitochondrial encephalopathy Small vessel vasculitis


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