Edema, and Pes cavus

Diseases related with Edema and Pes cavus

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

Top matches:

Autosomal dominant intermediate Charcot-Marie-Tooth disease type B is a rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both demyelination and axonal degeneration in nerve biopsies. It presents with mild to moderately severe, slowly progressive usual clinical features of Charcot-Marie-Tooth disease (muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities). Other findings include asymptomatic neutropenia and early-onset cataracts.

AUTOSOMAL DOMINANT INTERMEDIATE CHARCOT-MARIE-TOOTH DISEASE TYPE B Is also known as cmtdib|cmtdi1|charcot-marie-tooth neuropathy, dominant intermediate b|di-cmtb

Related symptoms:

  • Ataxia
  • Muscle weakness
  • Cataract
  • Peripheral neuropathy
  • Gait disturbance


SOURCES: ORPHANET OMIM MENDELIAN

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

Mitochondrial trifunctional protein (TFP) deficiency (TFPD) is a disorder of fatty acid oxidation characterized by a wide clinical spectrum ranging from severe neonatal manifestations including cardiomyopathy, hypoglycemia, metabolic acidosis, skeletal myopathy and neuropathy, liver disease and death to a mild phenotype with peripheral polyneuropathy, episodic rhabdomyolysis and pigmentary retinopathy..

MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY Is also known as tfpd|tfp deficiency

Related symptoms:

  • Failure to thrive
  • Muscle weakness
  • Muscular hypotonia
  • Motor delay
  • Peripheral neuropathy


SOURCES: ORPHANET MENDELIAN

More info about MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY

Nemaline myopathy is a form of congenital myopathy characterized by abnormal thread- or rod-like structures in muscle fibers on histologic examination ('nema' is Greek for 'thread'). The clinical phenotype is highly variable, with differing age at onset and severity. Muscle weakness typically involves proximal muscles, with involvement of the facial, bulbar, and respiratory muscles (Ilkovski et al., 2001). Attempts at classification of nemaline myopathies into clinical subtypes have been complicated by the overlap of clinical features and a continuous phenotypic spectrum of disease (North et al., 1997; Wallgren-Pettersson et al., 1999; Ryan et al., 2001; Sanoudou and Beggs, 2001). In general, 2 clinical groups can be readily distinguished: 'typical' and 'severe.' Typical nemaline myopathy is the most common form, presenting as infantile hypotonia and muscle weakness. It is slowly progressive or nonprogressive, and most adults achieve ambulation. The severe form of the disorder is characterized by absence of spontaneous movement or respiration at birth, arthrogryposis, and death in the first months of life. Much less commonly, late-childhood or even adult-onset can occur. However, adult-onset nemaline myopathy is usually not familial and may represent a different disease (Wallgren-Pettersson et al., 1999; Sanoudou and Beggs, 2001).Myopathy caused by mutations in the ACTA1 gene can show a range of clinical and pathologic phenotypes. Some patients have classic rods, whereas others may also show intranuclear rods, clumped filaments, cores, or fiber-type disproportion (see {255310}), all of which are nonspecific pathologic findings and not pathognomonic of a specific congenital myopathy. The spectrum of clinical phenotypes caused by mutations in ACTA1 may result from different mutations, modifying factors affecting the severity of the disorder, variability in clinical care, or a combination of these factors (Nowak et al., 1999; Kaindl et al., 2004). Genetic Heterogeneity of Nemaline MyopathySee also NEM1 (OMIM ), caused by mutation in the tropomyosin-3 gene (TPM3 ) on chromosome 1q22; NEM2 (OMIM ), caused by mutation in the nebulin gene (NEB ) on chromosome 2q23; NEM4 (OMIM ), caused by mutation in the beta-tropomyosin gene (TPM2 ) on chromosome 9p13; NEM5 (OMIM ), also known as Amish nemaline myopathy, caused by mutation in the troponin T1 gene (TNNT1 ) on chromosome 19q13; NEM6 (OMIM ), caused by mutation in the KBTBD13 gene (OMIM ) on chromosome 15q22; NEM7 (OMIM ), caused by mutation in the cofilin-2 gene (CFL2 ) on chromosome 14q13; NEM8 (OMIM ), caused by mutation in the KLHL40 gene (OMIM ), on chromosome 3p22; NEM9 (OMIM ), caused by mutation in the KLHL41 gene (OMIM ) on chromosome 2q31; NEM10 (OMIM ), caused by mutation in the LMOD3 gene (OMIM ) on chromosome 3p14; and NEM11 (OMIM ), caused by mutation in the MYPN gene (OMIM ) on chromosome 10q21. Several of the genes encode components of skeletal muscle sarcomeric thin filaments (Sanoudou and Beggs, 2001).Mutations in the NEB gene are the most common cause of nemaline myopathy (Lehtokari et al., 2006).

CONGENITAL MYOPATHY WITH EXCESS OF THIN FILAMENTS Is also known as actin myopathy

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Failure to thrive
  • Muscle weakness
  • Flexion contracture


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about CONGENITAL MYOPATHY WITH EXCESS OF THIN FILAMENTS

Other less relevant matches:

Autosomal dominant anomaly characterized by abnormal ovoid shape GRANULOCYTE nuclei and their clumping chromatin. Mutations in the LAMIN B receptor gene that results in reduced protein levels are associated with the disorder. Heterozygote individuals are healthy with normal granulocyte function while homozygote individuals occasionally have skeletal anomalies, developmental delay, and seizures.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hypertelorism
  • Failure to thrive
  • Strabismus


SOURCES: OMIM MESH MENDELIAN

More info about PELGER-HUET ANOMALY; PHA

Malignant hyperthermia susceptibility (MHS), a skeletal muscle disorder most often inherited as an autosomal dominant trait, is one of the main causes of death due to anesthesia. In susceptible people, a malignant hyperthermia episode is triggered by exposure to commonly used volatile anesthetic agents such as halothane or depolarizing muscle relaxants such as succinyl choline. A fulminant MH crisis is characterized by any combination of hyperthermia, skeletal muscle rigidity, tachycardia or arrhythmia, respiratory and metabolic acidosis, and rhabdomyolysis. Except for this susceptibility to triggering agents, MHS patients are not clinically distinguishable from the general population (summary by Monnier et al., 1997). Genetic Heterogeneity of Susceptibility to Malignant HyperthermiaOther MHS loci include MHS2 (OMIM ) on chromosome 17q; MHS3 (OMIM ) on chromosome 7q; MHS4 (OMIM ) on chromosome 3q; MHS5 (OMIM ), caused by mutation in the CACNA1S gene (OMIM ) on chromosome 1q32; and MHS6 (OMIM ) on chromosome 5p.

MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1; MHS1 Is also known as mhs|hyperthermia of anesthesia|mh|hyperpyrexia, malignant

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia
  • Scoliosis


SOURCES: OMIM MENDELIAN

More info about MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1; MHS1

Progressive external ophthalmoplegia is characterized by multiple mitochondrial DNA deletions in skeletal muscle. The most common clinical features include adult onset of weakness of the external eye muscles and exercise intolerance. Additional symptoms are variable, and may include cataracts, hearing loss, sensory axonal neuropathy, ataxia, depression, hypogonadism, and parkinsonism. Both autosomal dominant and autosomal recessive inheritance can occur; autosomal recessive inheritance is usually more severe (Filosto et al., 2003; Luoma et al., 2004).PEO caused by mutation in the POLG gene is associated with more complicated phenotypes than those forms caused by mutation in the ANT1 or C10ORF2 genes (Lamantea et al., 2002). Genetic Heterogeneity of Autosomal Dominant Progressive External Ophthalmoplegia with DNA DeletionsSee also PEOA2 (OMIM ), caused by mutation in the ANT1 gene (SLC25A4 ) on chromosome 4q34; PEOA3 (OMIM ), caused by mutation in the twinkle gene (C10ORF2 ) on chromosome 10q24; PEOA4 (OMIM ), caused by mutation in the POLG2 gene (OMIM ) on chromosome 17q; PEOA5 (OMIM ), caused by mutation in the RRM2B gene (OMIM ) on chromosome 8q23; and PEOA6 (OMIM ), caused by mutation in the DNA2 gene (OMIM ) on chromosome 10q.

AUTOSOMAL DOMINANT PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA Is also known as progressive external ophthalmoplegia, autosomal dominant 1|adpeo

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Hearing impairment
  • Ataxia


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA

Weaver syndrome comprises pre- and postnatal overgrowth, accelerated osseous maturation, characteristic craniofacial appearance, and developmental delay. Most cases are sporadic, although autosomal dominant inheritance has been reported. Although there is phenotypic overlap between Weaver syndrome and Sotos syndrome (OMIM ), distinguishing features of Weaver syndrome include broad forehead and face, ocular hypertelorism, prominent wide philtrum, micrognathia, deep horizontal chin groove, and deep-set nails. In addition, carpal bone development is advanced over the rest of the hand in Weaver syndrome, whereas in Sotos syndrome carpal bone development is at or behind that of the rest of the hand (summary by Basel-Vanagaite, 2010).The 'Weaver-like' syndrome reported by Stoll et al. (1985) in a mother and son may be a separate entity.Sotos syndrome (OMIM ), which shows considerable phenotypic overlap with Weaver syndrome, is caused by mutation in the NSD1 gene (OMIM ) on chromosome 5q35.

WEAVER SYNDROME; WVS Is also known as weaver-smith syndrome|wss

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis


SOURCES: OMIM MENDELIAN

More info about WEAVER SYNDROME; WVS

A heritable disorder of fibrous connective tissue, Marfan syndrome shows striking pleiotropism and clinical variability. The cardinal features occur in 3 systems--skeletal, ocular, and cardiovascular (McKusick, 1972; Pyeritz and McKusick, 1979; Pyeritz, 1993). It shares overlapping features with congenital contractural arachnodactyly (OMIM ), which is caused by mutation in the FBN2 gene (OMIM ).Gray and Davies (1996) gave a general review. They published Kaplan-Meier survival curves for a cohort of British Marfan syndrome patients demonstrating greater survivorship in females than in males; a similar result had been reported by Murdoch et al. (1972) and by Silverman et al. (1995). Gray and Davies (1996) also proposed a grading scale for clinical comparison of the Marfan syndrome patients. The authors provided criteria for each grade and suggested uniform use of these scales may facilitate clinicomolecular correlations.

MARFAN SYNDROME; MFS Is also known as marfan syndrome, type i|mfs1

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Scoliosis
  • Micrognathia
  • Strabismus


SOURCES: OMIM MENDELIAN

More info about MARFAN SYNDROME; MFS

Galloway syndrome is characterized by the association of nephrotic syndrome and central nervous system anomalies.

GALLOWAY-MOWAT SYNDROME Is also known as nephrosis-neuronal dysmigration syndrome|spinocerebellar ataxia, autosomal recessive 5, formerly|microcephaly, hiatal hernia, and nephrotic syndrome|scar5, formerly|galloway syndrome|cerebellar ataxia with mental retardation, optic atrophy, and skin abnor

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about GALLOWAY-MOWAT SYNDROME

SMITH-MAGENIS SYNDROME; SMS Is also known as chromosome 17p11.2 deletion syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SMITH-MAGENIS SYNDROME; SMS

Top 5 symptoms//phenotypes associated to Edema and Pes cavus

Symptoms // Phenotype % cases
Generalized hypotonia Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Strabismus Common - Between 50% and 80% cases
Muscle weakness Common - Between 50% and 80% cases
Failure to thrive Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Edema and Pes cavus. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Scoliosis Flexion contracture Hypertonia Hypertelorism Seizures Peripheral neuropathy Cataract Kyphosis Global developmental delay Epicanthus Hyperlordosis Micrognathia Myopathy High palate Gastroesophageal reflux Arrhythmia Respiratory insufficiency Ataxia Hyporeflexia Limb muscle weakness Areflexia Falls Dilatation Abnormal facial shape Cryptorchidism Low-set ears Rhabdomyolysis Pain Downslanted palpebral fissures Delayed speech and language development Malar flattening Feeding difficulties Hernia Muscle cramps Clinodactyly Midface retrusion Joint contracture of the hand Decreased fetal movement Pectus excavatum Retrognathia Rigidity Camptodactyly Proximal muscle weakness Short stature Ptosis Lactic acidosis Elevated serum creatine phosphokinase Abnormality of the dentition Prominent forehead Muscular hypotonia Motor delay Frequent falls Lethargy Congestive heart failure Peripheral axonal neuropathy Apnea Myalgia Hypothyroidism Dilated cardiomyopathy Pachygyria

Rare Symptoms - Less than 30% cases

Overgrowth Kyphoscoliosis Macrocephaly Microcephaly Frontal bossing Large for gestational age Pectus carinatum Stroke Joint hypermobility Focal segmental glomerulosclerosis Leukemia Hoarse voice Acidosis Hyperhidrosis Tall stature Gait ataxia Back pain Renal insufficiency Acute lymphoblastic leukemia Flat occiput Esotropia Talipes EEG abnormality Cerebellar atrophy Constipation Cerebral cortical atrophy Gait disturbance Anxiety Retinopathy Abnormality of eye movement Visual impairment Abnormality of the kidney Amenorrhea Lissencephaly Nephropathy Sleep disturbance Heterotopia Secondary amenorrhea Dysarthria Cognitive impairment Intrauterine growth retardation Hypoplasia of the corpus callosum Lymphedema Ventriculomegaly Ventricular arrhythmia Joint laxity Macrotia Abnormality of the foot Mandibular prognathia Abnormality of the sternum Sensorineural hearing impairment Inguinal hernia Thoracic kyphosis Behavioral abnormality Talipes equinovarus Diaphragmatic eventration Spasticity Hearing impairment Depressed nasal bridge Umbilical hernia Abnormality of cardiovascular system morphology Deeply set eye Myopia Feeding difficulties in infancy Myotonia Abnormality of the liver Congenital contracture EMG: myopathic abnormalities Foot dorsiflexor weakness Narrow face Hypoplasia of the iris Small for gestational age Pigmentary retinopathy Arthrogryposis multiplex congenita Paralysis Pes planus Abnormality of the cardiovascular system Facial palsy Slender finger Neonatal hypotonia Polyhydramnios Exercise intolerance Infantile muscular hypotonia Abnormality of the skeletal system Dysphagia Hyperreflexia Myoglobinuria Sensory neuropathy Open bite Neutropenia Elevated hepatic transaminase Myopathic facies Cardiomyopathy Paresthesia Glomerulosclerosis Retinal detachment Arachnodactyly Breech presentation Facial diplegia Broad face Ascites Heart murmur Aortic aneurysm Hypopigmentation of the skin Tetraplegia Emphysema Vomiting Inability to walk Gliosis Chorea Ectopia lentis Brain atrophy Limitation of joint mobility Hematuria Microphthalmia Dystonia Pneumonia Rocker bottom foot Muscular hypotonia of the trunk Abnormality of the eye Irritability Epiphora Cerebellar hypoplasia Wide mouth Poor speech Camptodactyly of finger Prominent nasal bridge Severe global developmental delay Absent speech Hammertoe Cerebral atrophy Proteinuria Premature birth Restrictive ventilatory defect Decreased muscle mass Microspherophakia Mitral annular calcification Pneumothorax Pulmonary artery dilatation Incisional hernia Increased axial length of the globe Anisometropia Overjet Spontaneous pneumothorax Hypoplasia of the musculature Cystic medial necrosis Ascending tubular aorta aneurysm Medial rotation of the medial malleolus Hypertropia Overbite Flat cornea Thoracic aortic aneurysm Endocarditis Hypopnea Tricuspid valve prolapse Dural ectasia Premature osteoarthritis Protrusio acetabuli Homocystinuria Inferior oblique muscle overaction Redundant skin Aortic root aneurysm Hydrocephalus Sleep apnea Disproportionate tall stature Aortic regurgitation Narrow palate Reduced subcutaneous adipose tissue Optic atrophy Striae distensae Anemia Nystagmus Dilatation of the cerebral artery Spontaneous abortion Megalocornea Subarachnoid hemorrhage Arachnoid cyst Meningocele Obstructive sleep apnea Genu recurvatum Aortic dissection Spondylolisthesis Pulmonary edema Low back pain Delayed myelination Encephalomalacia Prominent nose Hypoplasia of dental enamel Abnormality of the thyroid gland Impulsivity Self-injurious behavior Poor suck Abnormality of the urinary system Sacral dimple Drooling Abnormality of the outer ear Hypercholesterolemia Increased body weight Abnormal vertebral morphology Sinusitis Stereotypy Omphalocele Abnormality of the immune system Broad-based gait Hypertriglyceridemia Otitis media Full cheeks Macroglossia Microcornea Delayed eruption of teeth Single transverse palmar crease Small hand Short palm Oral cleft Dry skin Synophrys Progressive spastic paraplegia Broad palm Cleft lip Velopharyngeal insufficiency Frequent temper tantrums Head-banging Abnormality of the forearm Midline brain calcifications Abnormal tracheobronchial morphology Morphological abnormality of the middle ear Abnormality of upper lip Pelvic kidney Premature atrial contractions Hyperacusis Mood changes Recurrent aspiration pneumonia Excessive daytime sleepiness Everted upper lip vermilion Impaired pain sensation Recurrent ear infections Cavum septum pellucidum Abnormal renal morphology Deep palmar crease Abnormality of the larynx Thick upper lip vermilion Duodenal atresia Bruxism Short attention span Chronic constipation Self-mutilation Overweight Drowsiness Protruding tongue Microtia Intellectual disability, moderate Dandy-Walker malformation Chronic kidney disease Tubular atrophy Esophagitis Mild microcephaly Aspiration pneumonia Adrenal hypoplasia Hiatus hernia Proportionate short stature Abnormality of immune system physiology Congenital hypothyroidism Abnormality of neuronal migration Hemiplegia/hemiparesis Hypoplasia of the brainstem Hypoalbuminemia Adducted thumb Aqueductal stenosis Hyperkinesis Severe muscular hypotonia Opacification of the corneal stroma Aspiration Progressive microcephaly Postnatal microcephaly Small nail Hypsarrhythmia Spastic tetraplegia Nephrotic syndrome Hypotelorism Oligohydramnios Narrow forehead Sloping forehead Diffuse cerebral atrophy Spastic ataxia Aggressive behavior Brachydactyly Conductive hearing impairment High forehead Hyperactivity Brachycephaly Upslanted palpebral fissure Posteriorly rotated ears Clinodactyly of the 5th finger Abnormal heart morphology Obesity Abnormality of metabolism/homeostasis Short nose Anteverted nares Wide nasal bridge Cleft palate Abnormal renal physiology Growth delay Projectile vomiting Thyroid dysgenesis Laryngospasm Hypoplasia of the ear cartilage Exotropia Albuminuria Congenital nephrotic syndrome Abnormality of the intervertebral disk Axial dystonia Diffuse mesangial sclerosis Narrow nasal ridge Hand clenching Periorbital edema Elbow flexion contracture Lymphoma Amblyopia Short 3rd metacarpal Deep philtrum Tachypnea Shock Lumbar hyperlordosis Hypotension Webbed neck Abnormal bleeding Metabolic acidosis Tachycardia Muscular dystrophy Fever Hyposegmentation of neutrophil nuclei Abnormality of the coagulation cascade Folate deficiency Median cleft palate Giant platelets Lower limb hypertonia Ectopic calcification Short 5th metacarpal Abnormality of chromosome segregation Short 4th metacarpal Upper limb undergrowth Lower limb hyperreflexia Mild short stature Gingival overgrowth Ventricular fibrillation Hyperkalemia Eczema Depressivity Abnormality of extrapyramidal motor function Bradykinesia Increased serum lactate Migraine Parkinsonism Coma Congenital cataract Ophthalmoplegia Diabetes mellitus Hypogonadism Osteoporosis Fatigue Acute kidney injury Tremor Skeletal muscle atrophy Mixed respiratory and metabolic acidosis Sinus tachycardia Long upper lip Congenital ptosis Respiratory arrest Severe lactic acidosis Hyperphosphatemia Low hanging columella Malignant hyperthermia Scaphocephaly Recurrent otitis media Generalized tonic-clonic seizures Primary amenorrhea Segmental peripheral demyelination Respiratory failure Recurrent respiratory infections Respiratory distress Prenatal maternal abnormality Recurrent myoglobinuria Abnormality of the amniotic fluid Hypoketotic hypoglycemia Hyperammonemia Hydrops fetalis Cholestasis Hypoglycemia Peripheral axonal degeneration Respiratory tract infection Segmental peripheral demyelination/remyelination Sensory ataxia Onion bulb formation Decreased number of peripheral myelinated nerve fibers Axonal degeneration Steppage gait Peripheral demyelination Sensory impairment Distal sensory impairment Distal amyotrophy Lower limb muscle weakness Distal muscle weakness Hypertrophic cardiomyopathy Cough Skeletal dysplasia Fetal akinesia sequence Polydactyly Thrombocytopenia Ventricular septal defect Late-onset distal muscle weakness Percussion myotonia Fetal distress Diaphragmatic paralysis Neck flexor weakness Slender build Type 1 muscle fiber predominance Nemaline bodies EMG: neuropathic changes Genu valgum Hypoventilation Thin ribs Spinal rigidity Bulbar palsy Mildly elevated creatine phosphokinase Mask-like facies Akinesia Respiratory insufficiency due to muscle weakness Knee flexion contracture Waddling gait Generalized muscle weakness Pulmonary hypoplasia Atrial fibrillation Palpitations Dental crowding Inverted nipples Calcaneovalgus deformity Poor fine motor coordination Dimple chin Broad philtrum Dilation of lateral ventricles Large earlobe Hydrocele testis Hypoplastic iliac wing Diastasis recti Down-sloping shoulders Prolactin excess Absent septum pellucidum Thin nail Limited elbow extension Bilateral talipes equinovarus Overlapping toe Metatarsus adductus Radial deviation of finger Large hands Slurred speech Cutis laxa Accelerated skeletal maturation Coxa valga Pointed chin Short ribs Thoracolumbar kyphosis Teratoma Hypertrichosis Glaucoma Decreased body weight Abnormal lung morphology Mitral regurgitation Cardiomegaly Mitral valve prolapse Dental malocclusion Chest pain Polyneuropathy High, narrow palate Long face Dolichocephaly Visual loss Galactorrhea Dysharmonic bone age Flared humeral metaphysis Abnormally low-pitched voice Limited knee extension Flared femoral metaphysis Lumbar kyphosis Sacrococcygeal teratoma Deep-set nails Horizontal eyebrow Vertebral wedging Short fourth metatarsal Prominent fingertip pads Broad thumb Fine hair Left ventricular hypertrophy Sensory axonal neuropathy Ketosis Mitochondrial myopathy Progressive external ophthalmoplegia Bipolar affective disorder Gonadal dysgenesis Hyperthyroidism Exertional dyspnea Resting tremor Hypokinesia Difficulty climbing stairs Glucose intolerance Increased variability in muscle fiber diameter Shoulder girdle muscle weakness Ophthalmoparesis Abnormality of mitochondrial metabolism Premature ovarian insufficiency Dysphonia Easy fatigability Goiter Ragged-red muscle fibers External ophthalmoplegia Hypergonadotropic hypogonadism Sensorimotor neuropathy Cerebral visual impairment Progressive muscle weakness Hypomimic face Reduced ejection fraction Nail dysplasia Subsarcolemmal accumulations of abnormally shaped mitochondria Round face Platyspondyly Broad forehead Sparse hair Abnormality of the pinna Delayed skeletal maturation Long philtrum Neoplasm Focal white matter lesions Quadriceps muscle weakness Progressive ophthalmoplegia Acute rhabdomyolysis Absent Achilles reflex Multiple mitochondrial DNA deletions Impaired distal proprioception Nocturia Impaired distal vibration sensation Cytochrome C oxidase-negative muscle fibers Muscle fiber necrosis Gastroparesis Cogwheel rigidity Parkinsonism with favorable response to dopaminergic medication Testicular atrophy Abnormality of the mitochondrion Skeletal myopathy Sleep-wake inversion


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