Fever, and Dilated cardiomyopathy

Diseases related with Fever and Dilated cardiomyopathy

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

Top matches:

Arrhythmogenic right ventricular dysplasia (ARVD) is a clinical and pathologic entity for which the diagnosis rests on electrocardiographic and angiographic criteria; pathologic findings, replacement of ventricular myocardium with fatty and fibrous elements, preferentially involve the right ventricular free wall. It is inherited in an autosomal dominant manner with reduced penetrance and is one of the major genetic causes of juvenile sudden death. When the dysplasia is extensive, it may represent the Uhl anomaly ('parchment right ventricle'). The presenting finding is usually recurrent, sustained ventricular tachycardia with left bundle branch block configuration. Basso et al. (2009) provided a detailed review of ARVD, including diagnosis, pathogenesis, treatment options, and genetics. Genetic Heterogeneity of Familial Arrhythmogenic Right Ventricular DysplasiaOther forms of ARVD include ARVD2 (OMIM ), caused by mutation in the RYR2 gene (OMIM ) on chromosome 1q42-q43; ARVD3 (OMIM ), on chromosome 14q12-q22; ARVD4 (OMIM ), on chromosome 2q32.1-q32.3; ARVD5 (OMIM ), caused by mutation in the TMEM43 gene (OMIM ) on chromosome 3p23; ARVD6 (OMIM ), on chromosome 10p14-p12; ARVD8 (OMIM ), caused by mutation in the DSP gene (OMIM ) on chromosome 6p24; ARVD9 (OMIM ), caused by mutation in the PKP2 gene (OMIM ) on chromosome 12p11; ARVD10 (OMIM ), caused by mutation in the DSG2 (OMIM ) on chromosome 18q12.1; ARVD11 (OMIM ), caused by mutation in the DSC2 gene (OMIM ) on chromosome 18q12.1; ARVD12 (OMIM ), caused by mutation in the JUP gene (OMIM ) on chromosome 17q21; and ARVD13 (OMIM ), caused by mutation in the CTNNA3 gene (OMIM ) on chromosome 10q21.ARVD7 is a former designation for a form of myopathy and ARVD mapped to chromosome 10q22, which was later found to be a form of myofibrillar myopathy (MFM1 ) caused by mutation in the DES gene (OMIM ) on chromosome 2q35.Christensen et al. (2010) screened 65 ARVD probands for mutations in 5 desmosomal genes as well as the TGFB3 gene (OMIM ), and identified 19 different mutations in the desmosomal genes in 12 of the families, including 7 with more than 1 mutation. In 6 families, digenic mutation carriers were identified, with at least 1 of the mutations being absent in the control population. The authors stated that their findings partially supported a gene dosage effect, although phenotypic variation was large.Nitoiu et al. (2014) reviewed desmosome biology in cardiocutaneous syndromes and inherited skin disease, including discussion of the involvement of the DSP, PKP2, DSG2, DSC2, and JUP genes.

ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 1; ARVD1 Is also known as arvc1|arrhythmogenic right ventricular cardiomyopathy 1

Related symptoms:

  • Fever
  • Cardiomyopathy
  • Edema
  • Myopathy
  • Congestive heart failure


SOURCES: ORPHANET OMIM MENDELIAN

More info about ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 1; ARVD1

The severe infantile form of carnitine palmitoyltransferase II (CPT II) deficiency (see this term), an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the early-onset form of the disease.

CARNITINE PALMITOYL TRANSFERASE II DEFICIENCY, SEVERE INFANTILE FORM Is also known as cpt2, severe infantile form|cptii, severe infantile form|carnitine palmitoyltransferase ii deficiency with hypoketotic hypoglycemia|carnitine palmitoyl transferase deficiency type 2, hepatocardiomuscular form|cpt2, hepatocardiomuscular form|cptii, hepatoc

Related symptoms:

  • Seizures
  • Hepatomegaly
  • Fever
  • Respiratory distress
  • Cardiomyopathy


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about CARNITINE PALMITOYL TRANSFERASE II DEFICIENCY, SEVERE INFANTILE FORM

High match PGM1-CDG

Congenital disorder of glycosylation type It (CDG1T) is an autosomal recessive disorder characterized by a wide range of clinical manifestations and severity. The most common features include cleft lip and bifid uvula, apparent at birth, followed by hepatopathy, intermittent hypoglycemia, short stature, and exercise intolerance, often accompanied by increased serum creatine kinase. Less common features include rhabdomyolysis, dilated cardiomyopathy, and hypogonadotropic hypogonadism (summary by Tegtmeyer et al., 2014).For a discussion of the classification of CDGs, see CDG1A (OMIM ).

PGM1-CDG Is also known as glycogen storage disease xiv|gsd14|gsd xiv|congenital disorder of glycosylation type it|cdg syndrome type it|cdg-it|cdg it|cdg1t|cdgit|phosphoglucomutase-1 deficiency|pgm1 deficiency|phosphoglucomutase 1 deficiency|congenital disorder of glycosylation typ

Related symptoms:

  • Short stature
  • Growth delay
  • Micrognathia
  • Muscle weakness
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MENDELIAN

More info about PGM1-CDG

Other less relevant matches:

Systemic primary carnitine deficiency (SPCD) is a potentially lethal disorder of fatty acid oxidation characterized classically by early childhood onset cardiomyopathy often with weakness and hypotonia, failure to thrive and recurrent hypoglycemic hypoketotic seizures and/or coma.

SYSTEMIC PRIMARY CARNITINE DEFICIENCY Is also known as cud|carnitine uptake deficiency|carnitine transporter defect|systemic carnitine deficiency|deficiency of plasma-membrane carnitine transporter|scd|carnitine deficiency, primary|carnitine deficiency, systemic, due to defect in renal reabsorption of carniti

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Failure to thrive
  • Muscle weakness
  • Muscular hypotonia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about SYSTEMIC PRIMARY CARNITINE DEFICIENCY

Glutaric aciduria II (GA2) is an autosomal recessively inherited disorder of fatty acid, amino acid, and choline metabolism. It differs from GA I (GA1 ) in that multiple acyl-CoA dehydrogenase deficiencies result in large excretion not only of glutaric acid, but also of lactic, ethylmalonic, butyric, isobutyric, 2-methyl-butyric, and isovaleric acids. GA II results from deficiency of any 1 of 3 molecules: the alpha (ETFA) and beta (ETFB) subunits of electron transfer flavoprotein, and electron transfer flavoprotein dehydrogenase (ETFDH). The clinical picture of GA II due to the different defects appears to be indistinguishable; each defect can lead to a range of mild or severe cases, depending presumably on the location and nature of the intragenic lesion, i.e., mutation, in each case (Goodman, 1993; Olsen et al., 2003).The heterogeneous clinical features of patients with MADD fall into 3 classes: a neonatal-onset form with congenital anomalies (type I), a neonatal-onset form without congenital anomalies (type II), and a late-onset form (type III). The neonatal-onset forms are usually fatal and are characterized by severe nonketotic hypoglycemia, metabolic acidosis, multisystem involvement, and excretion of large amounts of fatty acid- and amino acid-derived metabolites. Symptoms and age at presentation of late-onset MADD are highly variable and characterized by recurrent episodes of lethargy, vomiting, hypoglycemia, metabolic acidosis, and hepatomegaly often preceded by metabolic stress. Muscle involvement in the form of pain, weakness, and lipid storage myopathy also occurs. The organic aciduria in patients with the late-onset form of MADD is often intermittent and only evident during periods of illness or catabolic stress (summary by Frerman and Goodman, 2001).Importantly, riboflavin treatment has been shown to ameliorate the symptoms and metabolic profiles in many MADD patients, particularly those with type III, the late-onset and mildest form (Liang et al., 2009).

MULTIPLE ACYL-COA DEHYDROGENASE DEFICIENCY; MADD Is also known as ema|ethylmalonic-adipicaciduria|glutaric aciduria ii|ga ii|glutaric acidemia ii|ga2

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MULTIPLE ACYL-COA DEHYDROGENASE DEFICIENCY; MADD

High match MELAS

MELAS (Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke) syndrome is a rare progressive multisystemic disorder characterized by encephalomyopathy, lactic acidosis, and stroke-like episodes. Other features include endocrinopathy, heart disease, diabetes, hearing loss, and neurological and psychiatric manifestations.

MELAS Is also known as mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes|melas syndrome|mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MELAS

The neonatal form of carnitine palmitoyltransferase II (CPT II) deficiency (see this term), an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the lethal form of the disease which presents with multisystem failure.

CARNITINE PALMITOYL TRANSFERASE II DEFICIENCY, NEONATAL FORM Is also known as carnitine palmitoyl transferase deficiency type 2, lethal systemic form|carnitine palmitoyltransferase ii deficiency, neonatal|cpt2 deficiency, lethal neonatal|carnitine palmitoyl transferase ii deficiency, lethal systemic form|carnitine palmitoyltransfer

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Muscular hypotonia
  • Cataract


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about CARNITINE PALMITOYL TRANSFERASE II DEFICIENCY, NEONATAL FORM

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

Typical hemolytic uremic syndrome is characterized by acute renal failure, thrombocytopenia, and microangiopathic hemolytic anemia associated with distorted erythrocytes ('burr cells'). The vast majority of cases (90%) are sporadic, occur in children under 3 years of age, and are associated with epidemics of diarrhea caused by verotoxin-producing E. coli. The death rate is very low, about 30% of cases have renal sequelae, and there is usually no relapse of the disease. This form of HUS usually presents with a diarrhea prodrome (thus referred to as D+HUS) and has a good prognosis in most cases. In contrast, a subgroup of patients with HUS have an atypical presentation (aHUS or D-HUS) without a prodrome of enterocolitis and diarrhea and have a much poorer prognosis, with a tendency to relapse and frequent development of end-stage renal failure or death. These cases tend to be familial. Both autosomal recessive and autosomal dominant inheritance have been reported (Goodship et al., 1997; Taylor, 2001; Veyradier et al., 2003; Noris et al., 2003). Noris and Remuzzi (2009) provided a detailed review of atypical HUS. Genetic Heterogeneity of Atypical Hemolytic Uremic SyndromeAtypical HUS is a genetically heterogeneous condition. Susceptibility to the development of the disorder can be conferred by mutations in various components of or regulatory factors in the complement cascade system (Jozsi et al., 2008). See AHUS2 (OMIM ), AHUS3 (OMIM ), AHUS4 (OMIM ), AHUS5 (OMIM ), and AHUS6 (OMIM ). AHUS7 (see {615008}) is caused by mutation in the DGKE gene (OMIM ), which is not part of the complement cascade system.

HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1; AHUS1 Is also known as ahus, susceptibility to, 1

Related symptoms:

  • Seizures
  • Cognitive impairment
  • Anemia
  • Hypertension
  • Fever


SOURCES: OMIM ORPHANET MENDELIAN

More info about HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1; AHUS1

AMYLOIDOSIS, FAMILIAL VISCERAL Is also known as german type amyloidosis|amyloidosis, systemic nonneuropathic|amyloidosis viii|amyloidosis, familial renal|ostertag type amyloidosis

Related symptoms:

  • Hearing impairment
  • Neoplasm
  • Pain
  • Hypertension
  • Peripheral neuropathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about AMYLOIDOSIS, FAMILIAL VISCERAL

Top 5 symptoms//phenotypes associated to Fever and Dilated cardiomyopathy

Symptoms // Phenotype % cases
Cardiomyopathy Very Common - Between 80% and 100% cases
Elevated serum creatine phosphokinase Common - Between 50% and 80% cases
Arrhythmia Common - Between 50% and 80% cases
Hepatomegaly Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Fever and Dilated cardiomyopathy. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Coma

Uncommon Symptoms - Between 30% and 50% cases

Lethargy Elevated hepatic transaminase Hypoglycemia Fatigue Hepatic steatosis Myopathy Congestive heart failure Cardiac arrest Muscle weakness Cardiomegaly Edema Acidosis Encephalopathy Vomiting Respiratory distress Dyspnea Hyperammonemia Hypoketotic hypoglycemia Muscular hypotonia Hypertrophic cardiomyopathy Hypertension Pain Feeding difficulties Nephropathy Aciduria Proteinuria Easy fatigability Left ventricular hypertrophy Feeding difficulties in infancy Ventricular hypertrophy Renal insufficiency Abdominal pain Exercise intolerance Weight loss Respiratory insufficiency Failure to thrive Generalized hypotonia Cataract Abnormality of the liver Muscle cramps Diarrhea Rhabdomyolysis Metabolic acidosis Nausea and vomiting

Rare Symptoms - Less than 30% cases

Excessive daytime somnolence Heart block Renal dysplasia Anorexia Reye syndrome-like episodes Ventricular arrhythmia Apnea Hyperreflexia Clonus Type I diabetes mellitus Peripheral neuropathy Ketonuria Intellectual disability Pancreatitis Atrioventricular block Ventricular fibrillation Ragged-red muscle fibers Bundle branch block Mutism Confusion Hepatic failure Increased muscle lipid content Ventriculomegaly Ataxia Global developmental delay Gait ataxia Dilatation Congenital cataract Abnormality of the pinna Purpura Myalgia Aortic dissection Jaundice Increased serum lactate High forehead Tachycardia Respiratory failure Anemia Areflexia Depressivity Headache Sudden cardiac death Dysphagia Gait disturbance Tremor Nonketotic hypoglycemia Dysarthria Motor delay Multiple lipomas Respiratory tract infection Lactic acidosis Growth delay Acute kidney injury Short stature Hypogonadotrophic hypogonadism Microcephaly Drowsiness Hearing impairment Abnormality of the renal tubule Aortic aneurysm Macrovesicular hepatic steatosis Abnormal facial shape Delayed puberty Episodic vomiting Cardiorespiratory arrest Hypothyroidism Hypogonadism Prominent forehead Nausea Polyneuropathy Nephrotic syndrome Hemiparesis Dicarboxylic aciduria Respiratory arrest Polymicrogyria Abnormality of the left ventricular outflow tract Hematuria Dysphasia Hyperkalemia Paresthesia Proximal tubulopathy Hemiplegia Cognitive impairment Polycystic kidney dysplasia Spontaneous hematomas Cerebral ischemia Gait imbalance Leber optic atrophy Writer's cramp Anterior hypopituitarism Persistence of primary teeth Reduced consciousness/confusion Tubulointerstitial abnormality Muscle fiber atrophy Amaurosis fugax Abnormal nerve conduction velocity Psychotic episodes Abnormality of peripheral nerve conduction Auditory hallucinations Ileus Hemianopia Motor polyneuropathy Retinal pigment epithelial atrophy Crohn's disease Speech apraxia Dysesthesia Gastroparesis Renal Fanconi syndrome Abnormality of the cerebellar vermis Seborrheic dermatitis Stroke-like episode Psychomotor deterioration Left ventricular failure Abnormality of immune system physiology Wolff-Parkinson-White syndrome Abnormality of mitochondrial metabolism Adrenal insufficiency Overlapping toe Abnormality of neuronal migration Focal segmental glomerulosclerosis Hemiplegia/hemiparesis Mask-like facies Bifid scrotum Aplasia/Hypoplasia of the cerebellum Intestinal obstruction Personality changes Ophthalmoparesis Hyponatremia Bilateral ptosis Vestibular dysfunction Hypercalciuria Decreased nerve conduction velocity Cachexia Chronic kidney disease Growth abnormality Hyperkinesis Goiter Schizophrenia Hypopigmented skin patches Ischemic stroke Reduced tendon reflexes External ophthalmoplegia Aphasia Visual field defect Increased CSF lactate Neonatal hypoglycemia Visual hallucinations Tubulointerstitial nephritis Renal tubular dysfunction Facial diplegia Delusions Transient ischemic attack Posterior subcapsular cataract Progressive external ophthalmoplegia Mitochondrial myopathy Hypoparathyroidism Xerostomia Vitiligo Abnormality of visual evoked potentials Prolonged QT interval Hashimoto thyroiditis Atopic dermatitis Distal arthrogryposis Pulmonary embolism Primary adrenal insufficiency Abnormal macular morphology Thyroiditis Hyperthyroidism Basal ganglia calcification Glomerulopathy Progressive sensorineural hearing impairment Vertebral fusion Hemeralopia Hypothermia Spotty hypopigmentation Mitral atresia Elevated serum creatinine Reticulocytosis Abnormality of blood and blood-forming tissues Hyperlipidemia Hypertriglyceridemia Hemolytic anemia Stage 5 chronic kidney disease Thrombocytopenia Abnormality of metabolism/homeostasis Thoracic aorta calcification Bicuspid pulmonary valve Cystic medial necrosis Hemolytic-uremic syndrome Hypoplastic aortic arch Ascending aortic dissection Aortic arch aneurysm Aortic valve calcification Thoracic aortic aneurysm Asymmetric septal hypertrophy Mitral stenosis Double outlet right ventricle Hypoplastic left heart Heart murmur Bicuspid aortic valve Enterocolitis Complement deficiency Aortic valve stenosis Glaucoma Renal amyloidosis Albuminuria Restrictive cardiomyopathy Drusen Papilledema Optic neuropathy Amyloidosis Urticaria Cholestasis Skin rash Hepatosplenomegaly Splenomegaly Increased blood urea nitrogen Neoplasm Decreased level of thrombomodulin Decreased serum complement factor H Decreased serum complement factor I Abnormality of complement system Decreased serum complement factor B Decreased serum complement C3 Schistocytosis Abnormal lactate dehydrogenase activity Azotemia Microangiopathic hemolytic anemia Anuria Aortic regurgitation Coarctation of aorta Paronychia Morphological abnormality of the inner ear Tapered finger Bulbous nose Abnormality of the foot Hydronephrosis Neonatal hypotonia Posteriorly rotated ears Agenesis of corpus callosum High palate Flexion contracture Low-set ears Prominent ear helix Morphological abnormality of the vestibule of the inner ear Sloping forehead Bilateral intracranial calcifications Episodic quadriplegia Abnormality of acid-base homeostasis Homonymous hemianopia Abnormal cochlea morphology Paralytic ileus Abnormal mitochondrial shape Cochlear degeneration Progressive night blindness Cochlear malformation Edema of the dorsum of hands Abnormal mitochondrial morphology Wide intermamillary distance Oligohydramnios Abnormal heart morphology Elevated long chain fatty acids Atrial septal defect Ventricular septal defect Long-chain dicarboxylic aciduria Elevated serum long-chain fatty acids Decreased plasma total carnitine Antenatal intracerebral hemorrhage Intracerebral periventricular calcifications Tapered toe Decreased plasma free carnitine Hepatic calcification Basal ganglia cysts Increased total bilirubin Elbow flexion contracture Biventricular hypertrophy Abnormality of nervous system morphology Long toe Ureteral duplication Cystic renal dysplasia Enlarged kidney Cerebral hemorrhage Hypoplastic toenails Overfolded helix Narrow palate Knee flexion contracture Multicystic kidney dysplasia Macular degeneration Osteoporosis Generalized hirsutism Behavioral abnormality Renal cyst Pulmonary hypoplasia Joint hyperflexibility Limb muscle weakness Abnormality of the cerebral white matter Hyperlordosis Telecanthus Proximal muscle weakness Difficulty walking Arthralgia Macrocephaly Generalized muscle weakness Depressed nasal bridge Spasticity Strabismus Decreased carnitine level in liver Irregular respiration Reduced muscle carnitine level Impaired gluconeogenesis Acute encephalopathy Generalized tonic-clonic seizures with focal onset Fasting hypoglycemia Tetraplegia Gliosis Skeletal myopathy Stridor Exercise-induced myalgia Organic aciduria Chronic fatigue Progressive proximal muscle weakness Ketosis Myoglobinuria Fatigable weakness Glycosuria Difficulty climbing stairs Restrictive ventilatory defect Back pain Waddling gait Slurred speech Poor head control Spastic tetraparesis Scapular winging Leukodystrophy Decreased liver function Wide anterior fontanel Heterotopia Pachygyria Abnormality of the genital system Tetraparesis Endocardial fibroelastosis Decreased plasma carnitine Abnormal corpus callosum morphology ST segment elevation Cleft palate Micrognathia Hypoglycemic encephalopathy Loss of consciousness Hyperhidrosis Sinoatrial block Abnormal right ventricle morphology T-wave inversion in the right precordial leads Dilatation of the ventricular cavity Peripheral edema Right ventricular cardiomyopathy Cleft lip T-wave inversion Myofibrillar myopathy Abnormal myocardium morphology Myocarditis Left bundle branch block Elevated erythrocyte sedimentation rate Coronary artery atherosclerosis Ventricular tachycardia Palpitations Syncope Intellectual disability, mild Bifid uvula Recurrent hypoglycemia Increased muscle glycogen content Neck muscle weakness Decreased muscle mass Delayed gross motor development Bradycardia Clumsiness Irritability Recurrent respiratory infections Abnormal protein glycosylation Type II transferrin isoform profile Cerebral venous thrombosis Exercise-induced muscle fatigue Chest pain Increased intramyocellular lipid droplets Reduced antithrombin III activity Decreased serum insulin-like growth factor 1 Chronic hepatitis Type I transferrin isoform profile Small face Hyperinsulinemic hypoglycemia Pierre-Robin sequence Malignant hyperthermia Abnormality of the coagulation cascade Hepatitis Medulloblastoma Loss of ability to walk EMG abnormality Generalized tonic-clonic seizures Hirsutism Peripheral axonal neuropathy Vertigo Ichthyosis Dysmetria Anal atresia Malabsorption Carious teeth Ophthalmoplegia Arthrogryposis multiplex congenita Pruritus Abnormal cerebellum morphology Neurological speech impairment Stroke Attention deficit hyperactivity disorder Nyctalopia Erythema Protruding ear Developmental regression Mental deterioration Anxiety EEG abnormality Postural instability Generalized myoclonic seizures Gastroesophageal reflux Status epilepticus Truncal ataxia Cerebral visual impairment Hallucinations Abnormality of retinal pigmentation Gingival overgrowth Decreased body weight Involuntary movements Hypertrichosis Atrial fibrillation Psychosis Pulmonary arterial hypertension Sensory impairment Type II diabetes mellitus Bilateral sensorineural hearing impairment Generalized-onset seizure Abnormality of the cardiovascular system Pigmentary retinopathy Cerebral calcification Amenorrhea Specific learning disability Hip dysplasia Memory impairment Migraine Photophobia Autism Acute pancreatitis Arthralgia of the hip Defective dehydrogenation of isovaleryl CoA and butyryl CoA Abnormality of branched chain family amino acid metabolism Fatigable weakness of neck muscles Fatigable weakness of distal limb muscles Hypersarcosinemia Ethylmalonic aciduria Reduced protein C activity Elevated plasma acylcarnitine levels Ketotic hypoglycemia Glutaric acidemia Gastrointestinal inflammation Electron transfer flavoprotein-ubiquinone oxidoreductase defect Narcolepsy Cataplexy Renal cortical cysts Limb tremor Impaired mastication Hypoglycemic coma Personality disorder Progressive spastic quadriplegia Glutaric aciduria Oliguria Generalized aminoaciduria Hepatic periportal necrosis Abnormality of blood glucose concentration Cerebral cortical atrophy Kyphosis Diabetes mellitus Myoclonus Dementia Rod-cone dystrophy Cerebellar hypoplasia Constipation Delayed skeletal maturation Hyporeflexia Visual loss Cerebral atrophy Dystonia Hypertelorism Hypertonia Abnormality of the dentition Cerebellar atrophy Blindness Short neck Optic atrophy Skeletal muscle atrophy Visual impairment Ptosis Sensorineural hearing impairment Nystagmus Generalized amyloid deposition


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