Edema, and Limb-girdle muscular dystrophy

Diseases related with Edema and Limb-girdle muscular dystrophy

In the following list you will find some of the most common rare diseases related to Edema and Limb-girdle muscular dystrophy that can help you solving undiagnosed cases.

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Dehydrated hereditary stomatocytosis (DHS), also known as hereditary xerocytosis, is an autosomal dominant hemolytic anemia characterized by primary erythrocyte dehydration. DHS erythrocytes exhibit decreased total cation and potassium content that are not accompanied by a proportional net gain of sodium and water. DHS patients typically exhibit mild to moderate compensated hemolytic anemia, with an increased erythrocyte mean corpuscular hemoglobin concentration and a decreased osmotic fragility, both of which reflect cellular dehydration (summary by Zarychanski et al., 2012). Patients may also show perinatal edema and pseudohyperkalemia due to loss of K+ from red cells stored at room temperature. A minor proportion of red cells appear as stomatocytes on blood films. Complications such as splenomegaly and cholelithiasis, resulting from increased red cell trapping in the spleen and elevated bilirubin levels, respectively, may occur. The course of DHS is frequently associated with iron overload, which may lead to hepatosiderosis (summary by Albuisson et al., 2013).Dehydrated red blood cells, including those from hereditary xerocytosis patients, show delayed infection rates to Plasmodium in vitro, suggesting a potential protective mechanism against malaria (Tiffert et al., 2005). A polymorphism in PIEZO1 that is enriched in populations of African descent and results in xerocytosis conferred resistance to Plasmodium infection in vitro (see {611184.0016}).The 'leaky red blood cells' in familial pseudohyperkalemia show a temperature-dependent loss of potassium when stored at room temperature, manifesting as apparent hyperkalemia. The red blood cells show a reduced life span in vivo, but there is no frank hemolysis. Studies of cation content and transport show a marginal increase in permeability at 37 degrees C and a degree of cellular dehydration, qualitatively similar to the changes seen in dehydrated hereditary stomatocytosis. Physiologic studies show that the passive leak of potassium has an abnormal temperature dependence, such that the leak is less sensitive to temperature than that in normal cells (summary by Iolascon et al., 1999).Carella et al. (2004) noted that 3 clinical forms of pseudohyperkalemia unassociated with hematologic manifestations, based predominantly on the leak-temperature dependence curve, had been reported: (1) pseudohyperkalemia Edinburgh, in which the curve has a shallow slope; (2) pseudohyperkalemia Chiswick or Falkirk (see {609153}), in which the curve is shouldered; and (3) pseudohyperkalemia Cardiff (see {609153}), in which the temperature dependence of the leak shows a 'U-shaped' profile with a minimum at 23 degrees C. Gore et al. (2004) stated that potassium-flux temperature profiles are consistent both from year to year in an individual as well as consistent within affected members of a pedigree. Genetic Heterogeneity of Hereditary StomatocytosisDehydrated hereditary stomatocytosis-2 (DHS2 ) is caused by mutation in the KCNN4 gene (OMIM ) on chromosome 19q13. Another form of stomatocytosis, involving familial pseudohyperkalemia with minimal hematologic abnormalities (PSHK2 ), is caused by mutation in the ABCB6 gene (OMIM ) on chromosome 2q35. Cryohydrocytosis (CHC ) is caused by mutation in the SLC4A1 gene (OMIM ) on chromosome 17q21, and stomatin-deficient cryohydrocytosis with neurologic defects (SDCHCN ) is caused by mutation in the SLC2A1 gene (OMIM ) on chromosome 1p34. An overhydrated form of hereditary stomatocytosis (OHST ) is caused by mutation in the RHAG gene (OMIM ) on chromosome 6p12.See {137280} for a discussion of the association of familial stomatocytosis and hypertrophic gastritis in the dog, an autosomal recessive syndrome. ReviewsDelaunay (2004) reviewed genetic disorders of red cell membrane permeability to monovalent cations, noting 'inevitable' overlap between entities based on clinical phenotype.Bruce (2009) provided a review of hereditary stomatocytosis and cation-leaky red cells, stating that consistent features include hemolytic anemia, a monovalent cation leak, and changes in red cell morphology that appear to follow a continuum, from normal discocyte to stomatocyte to echinocyte in DHS, and from discocyte to stomatocyte to spherocyte to fragmentation in OHST. Bruce (2009) suggested that the underlying pathologic mechanism might involve misfolded mutant proteins that escape the quality control system of the cell and reach the red cell membrane, where they disrupt the red cell membrane structure and cause a cation leak that alters the hydration of the red cell, thereby changing the morphology and viability of the cell.King and Zanella (2013) provided an overview of 2 groups of nonimmune hereditary red cell membrane disorders caused by defects in membrane proteins located in distinct layers of the red cell membrane: red cell cytoskeleton disorders, including hereditary spherocytosis (see {182900}), hereditary elliptocytosis (see {611804}), and hereditary pyropoikilocytosis (OMIM ); and cation permeability disorders of the red cell membrane, or hereditary stomatocytoses, including DHS, OHST, CHC, and PSHK. The authors noted that because there is no specific screening test for the hereditary stomatocytoses, a preliminary diagnosis is based on the presence of a compensated hemolytic anemia, macrocytosis, and a temperature- or time-dependent pseudohyperkalemia in some patients. King et al. (2015) reported the International Council for Standardization in Haematology (ICSH) guidelines for laboratory diagnosis of nonimmune hereditary red cell membrane disorders.

DEHYDRATED HEREDITARY STOMATOCYTOSIS 1 WITH OR WITHOUT PSEUDOHYPERKALEMIA AND/OR PERINATAL EDEMA; DHS1 Is also known as pseudohyperkalemia, familial, 1, due to red cell leak|pshk1|dhs|dehydrated hereditary stomatocytosis|xerocytosis, hereditary|desiccytosis, hereditary|pseudohyperkalemia edinburgh

Related symptoms:

  • Anemia
  • Hepatomegaly
  • Fever
  • Fatigue
  • Edema


SOURCES: OMIM MENDELIAN

More info about DEHYDRATED HEREDITARY STOMATOCYTOSIS 1 WITH OR WITHOUT PSEUDOHYPERKALEMIA AND/OR PERINATAL EDEMA; DHS1

Autosomal recessive limb girdle muscular dystrophy type 2E (LGMD2E) is a subtype of autosomal recessive limb girdle muscular dystrophy characterized by a childhood to adolescent onset of progressive pelvic- and shoulder-girdle muscle weakness, particularly affecting the pelvic girdle (adductors and flexors of hip). Usually the knees are the earliest and most affected muscles. In advanced stages, involvement of the shoulder girdle (resulting in scapular winging) and the distal muscle groups are observed. Calf hypertrophy, cardiomyopathy, respiratory impairment, tendon contractures, scoliosis, and exercise-induced myoglobinuria may be observed.

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2E Is also known as beta-sarcoglycanopathy|limb-girdle muscular dystrophy due to beta-sarcoglycan deficiency|lgmd2e|muscular dystrophy, limb-girdle, type 2e

Related symptoms:

  • Scoliosis
  • Delayed speech and language development
  • Gait disturbance
  • Dysphagia
  • Respiratory insufficiency


SOURCES: ORPHANET OMIM MENDELIAN

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

GLYCOGEN STORAGE DISEASE IV; GSD4 Is also known as andersen disease|brancher deficiency|gbe1 deficiency|amylopectinosis|gsd iv|glycogen branching enzyme deficiency|cirrhosis, familial, with deposition of abnormal glycogen|glycogenosis iv

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about GLYCOGEN STORAGE DISEASE IV; GSD4

Other less relevant matches:

Arhinia-choanal atresia-microphthalmia is a malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate.

ARRHINIA-CHOANAL ATRESIA-MICROPHTHALMIA SYNDROME Is also known as arhinia, choanal atresia, microphthalmia, and hypogonadotropic hypogonadism

Related symptoms:

  • Hearing impairment
  • Hypertelorism
  • Cleft palate
  • Cataract
  • Cryptorchidism


SOURCES: ORPHANET OMIM MENDELIAN

More info about ARRHINIA-CHOANAL ATRESIA-MICROPHTHALMIA SYNDROME

Congenital muscular dystrophy type 1A (MCD1A) belongs to a group of neuromuscular disorders with onset at birth or infancy characterized by hypotonia, muscle weakness and muscle wasting.

CONGENITAL MUSCULAR DYSTROPHY TYPE 1A Is also known as muscular dystrophy, congenital merosin-deficient|cmd1a|merosin-negative congenital muscular dystrophy|mdc1a|congenital muscular dystrophy due to laminin alpha2 deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL MUSCULAR DYSTROPHY TYPE 1A

Hemophilia A is an X-linked recessive bleeding disorder caused by a deficiency in the activity of coagulation factor VIII. The disorder is clinically heterogeneous with variable severity, depending on the plasma levels of coagulation factor VIII: mild, with levels 6 to 30% of normal; moderate, with levels 2 to 5% of normal; and severe, with levels less than 1% of normal. Patients with mild hemophilia usually bleed excessively only after trauma or surgery, whereas those with severe hemophilia have an annual average of 20 to 30 episodes of spontaneous or excessive bleeding after minor trauma, particularly into joints and muscles. These symptoms differ substantially from those of bleeding disorders due to platelet defects or von Willebrand disease (OMIM ), in which mucosal bleeding predominates (review by Mannucci and Tuddenham, 2001).

HEMOPHILIA A; HEMA Is also known as hemophilia, classic

Related symptoms:

  • Pain
  • Anemia
  • Flexion contracture
  • Peripheral neuropathy
  • Blindness


SOURCES: ORPHANET OMIM MENDELIAN

More info about HEMOPHILIA A; HEMA

Congenital adrenal hypoplasia (AHC) is a rare disorder that can be inherited in an X-linked or autosomal recessive (see {240200}) pattern. In X-linked AHC, primary adrenocortical failure occurs because the adrenal glands lack the permanent adult cortical zone. The remaining cells are termed 'cytomegalic' because they are larger than typical fetal adrenal cells (Hay et al., 1981; Reutens et al., 1999).Patients with AHC usually present in early infancy with primary adrenal failure. Hypogonadotropic hypogonadism (HHG) is a hallmark of the disorder, and is recognized during adolescence because of the absence or interruption of normal pubertal development. Abnormal spermatogenesis has also been observed in these patients. Milder forms of the disease have been described, with adrenal insufficiency sometimes occurring in childhood or even early adulthood. A few cases of partial HHG have been reported (summary by Raffin-Sanson et al., 2013). Transient precocious sexual development in infancy or early childhood can be a prominent feature of AHC (Landau et al., 2010).A contiguous gene syndrome involving a combination of congenital adrenal hypoplasia, glycerol kinase deficiency (OMIM ), and Duchenne muscular dystrophy (DMD ) is caused by deletion of multiple genes on chromosome Xp21 (see {300679}).

CYTOMEGALIC CONGENITAL ADRENAL HYPOPLASIA Is also known as ahch|cytomegalic adrenocortical hypoplasia|x-linked congenital adrenal hypoplasia|adrenal hypoplasia, congenital, with hypogonadotropic hypogonadism|ahc with isolated gonadotropin deficiency|addison disease, x-linked|ahx|ahc with hhg

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Failure to thrive
  • Cryptorchidism
  • Vomiting


SOURCES: OMIM ORPHANET MENDELIAN

More info about CYTOMEGALIC CONGENITAL ADRENAL HYPOPLASIA

Rigid spine syndrome (RSS) is a slowly progressive childhood-onset congenital muscular dystrophy (see this term) characterized by contractures of the spinal extensor muscles associated with abnormal posture (limitation of neck and trunk flexure), progressive scoliosis of the spine, early marked cervico-axial muscle weakness with relatively preserved strength and function of the extremities and progressive respiratory insufficiency.

RIGID SPINE SYNDROME Is also known as minicore myopathy, severe classic form|mdrs1|desmin-related myopathy with mallory bodies|multiminicore disease, severe classic form|myopathy, sepn1-related|rigid spine syndrome|muscular dystrophy, congenital, eichsfeld type|rigid spine congenital muscular

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Failure to thrive


SOURCES: OMIM ORPHANET MENDELIAN

More info about RIGID SPINE SYNDROME

Myotonic dystrophy is an autosomal dominant disorder characterized mainly by myotonia, muscular dystrophy, cataracts, hypogonadism, frontal balding, and ECG changes. The genetic defect in DM1 results from an amplified trinucleotide repeat in the 3-prime untranslated region of a protein kinase gene. Disease severity varies with the number of repeats: normal individuals have 5 to 37 repeats, mildly affected persons have 50 to 150 repeats, patients with classic DM have 100 to 1,000 repeats, and those with congenital onset can have more than 2,000 repeats. The disorder shows genetic anticipation, with expansion of the repeat number dependent on the sex of the transmitting parent. Alleles of 40 to 80 repeats are usually expanded when transmitted by males, whereas only alleles longer than 80 repeats tend to expand in maternal transmissions. Repeat contraction events occur 4.2 to 6.4% of the time (Musova et al., 2009). Genetic Heterogeneity of Myotonic DystrophySee also myotonic dystrophy-2 (DM2 ), which is caused by mutation in the ZNF9 gene (OMIM ) on chromosome 3q21.

MYOTONIC DYSTROPHY 1; DM1 Is also known as dystrophia myotonica 1|dystrophia myotonica|steinert disease|dm

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Muscle weakness
  • Muscular hypotonia


SOURCES: OMIM MENDELIAN

More info about MYOTONIC DYSTROPHY 1; DM1

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

Top 5 symptoms//phenotypes associated to Edema and Limb-girdle muscular dystrophy

Symptoms // Phenotype % cases
Muscular dystrophy Very Common - Between 80% and 100% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Flexion contracture Uncommon - Between 30% and 50% cases
Myopathy Uncommon - Between 30% and 50% cases
Muscle weakness Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Edema and Limb-girdle muscular dystrophy. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Respiratory failure Muscular hypotonia Arrhythmia Skeletal muscle atrophy Myopathic facies Hyperlordosis Proximal muscle weakness Cardiomyopathy Scoliosis Dysphagia Respiratory insufficiency Decreased fetal movement Myalgia Elevated serum creatine phosphokinase Limb muscle weakness Arthrogryposis multiplex congenita Intellectual disability Waddling gait Peripheral neuropathy Failure to thrive High palate Cryptorchidism Seizures Motor delay Fever Stroke Hepatomegaly Progressive muscle weakness Neonatal hypotonia Dilatation Hypogonadism

Rare Symptoms - Less than 30% cases

Low-set ears Short stature Hypogonadotrophic hypogonadism Ptosis Pain Global developmental delay Shock Hypertension Hypoventilation Congenital muscular dystrophy Delayed puberty Congestive heart failure Hyporeflexia Polyhydramnios Tachycardia Rigidity Cataract Abnormality of the cerebral white matter Feeding difficulties in infancy Facial palsy Axial muscle weakness Respiratory arrest Malignant hyperthermia Midface retrusion Intellectual disability, severe Respiratory distress Hydrops fetalis Cognitive impairment Myotonia Hearing impairment Hypertelorism Kyphoscoliosis Anemia Difficulty walking Increased variability in muscle fiber diameter Cholelithiasis Hyperkalemia Dilated cardiomyopathy Macroglossia Thromboembolism Gait disturbance Gowers sign Dehydration Ascites Generalized edema Abnormality of the liver Myoglobinuria Delayed speech and language development Esophageal varix Pneumonia Congenital adrenal hypoplasia Abnormal spermatogenesis Adrenocortical hypoplasia Apnea Congenital adrenal hyperplasia Absence of pubertal development Cough Generalized muscle weakness Ventricular hypertrophy Elbow flexion contracture Hyperphosphatemia Epicanthus Poor head control Neck muscle weakness Abnormality of the coagulation cascade Abnormality of the sternum Rhabdomyolysis Thoracolumbar scoliosis Acute kidney injury Scaphocephaly Hip contracture Low hanging columella Spinal rigidity Thoracic kyphosis Generalized amyotrophy Long penis High pitched voice Nasal speech Decreased circulating aldosterone level Decreased circulating cortisol level Breech presentation Intraventricular hemorrhage Congenital ptosis Splenic rupture Bleeding with minor or no trauma Oral cavity bleeding Intramuscular hematoma Persistent bleeding after trauma Long upper lip Hypoglycemia Reduced factor VIII activity Spontaneous hematomas Joint hemorrhage Sinus tachycardia Stomatitis Prolonged partial thromboplastin time Dyschromatopsia Vomiting Asthma Gonadotropin deficiency Adrenal hypoplasia High-frequency hearing impairment Right ventricular hypertrophy Oligospermia Renal salt wasting Severe lactic acidosis Adrenal hyperplasia Primary adrenal insufficiency Hyperpigmentation of the skin Adrenal insufficiency Hyponatremia Precocious puberty Schizophrenia Diaphragmatic eventration Azoospermia Accelerated skeletal maturation Ventricular fibrillation Reduced vital capacity Cor pulmonale Thin ribs Nonimmune hydrops fetalis Facial diplegia Heart block Abnormal EKG Neurofibrillary tangles Centrally nucleated skeletal muscle fibers Alzheimer disease Testicular atrophy Pectus carinatum Atrioventricular block Ventricular tachycardia Intellectual disability, progressive Lactic acidosis Joint hypermobility Spontaneous abortion Atrial flutter Acidosis Joint swelling Hypertonia Abnormal facial shape Strabismus Ring fibers Percussion myotonia Obsessive-compulsive trait Narcolepsy Kyphosis Hyperhidrosis Renal insufficiency Malar flattening Pectus excavatum Excessive daytime sleepiness Frontal balding Pes cavus First degree atrioventricular block Metabolic acidosis Muscle cramps Restrictive deficit on pulmonary function testing Minicore myopathy Ventricular arrhythmia Abnormality on pulmonary function testing Type 1 and type 2 muscle fiber minicore regions Abnormality of skeletal morphology Limited neck flexion Hamstring contractures Crackles Tachypnea Orthopnea Nocturnal hypoventilation Muscle fiber necrosis Peroneal muscle atrophy Downslanted palpebral fissures Deep philtrum Abnormality of the rib cage Cardiac conduction abnormality Cerebral atrophy Abnormal bleeding Brain atrophy Cardiac arrest Insulin resistance Webbed neck Atrial fibrillation Mitral valve prolapse Premature birth Hypotension Sensory neuropathy Dementia Lumbar hyperlordosis Unsteady gait Lower limb muscle weakness Lymphedema Talipes Mental deterioration Cerebral cortical atrophy Abnormality of the elbow Poor suck Arthropathy Cirrhosis Reduced tendon reflexes Exercise intolerance Decreased liver function Hepatic fibrosis Sudden cardiac death Hepatic failure Hepatosplenomegaly Akinesia Dyspnea Talipes equinovarus Reduced muscle fiber beta sarcoglycan Pelvic girdle muscle atrophy Calf muscle pseudohypertrophy Tip-toe gait Shoulder girdle muscle atrophy Portal hypertension Difficulty climbing stairs Achilles tendon contracture Inguinal hernia Hypoplasia of the maxilla Iris coloboma Synophrys Corneal opacity Coloboma Cleft lip Micropenis Hypospadias Exertional dyspnea Hernia Microphthalmia Visual impairment Cleft palate Limb joint contracture Tubulointerstitial fibrosis Fetal akinesia sequence Pelvic girdle muscle weakness Limb-girdle muscle weakness Dental malocclusion Pericardial effusion Intermittent jaundice Gastritis Elliptocytosis Spherocytosis Increased serum ferritin Reticulocytosis Hyperbilirubinemia Hemoglobinuria Hepatitis Hemolytic anemia Pallor Elevated hepatic transaminase Jaundice Splenomegaly Fatigue Stomatocytosis Antiphospholipid antibody positivity Proximal amyotrophy Increased red cell hemolysis by shear stress Calf muscle hypertrophy Scapular winging Broad-based gait Palpitations Distal muscle weakness Hypertrophic cardiomyopathy Osteoporosis Exercise-induced hemolysis Chronic hemolytic anemia Increased intracellular sodium Increased mean corpuscular hemoglobin concentration Recurrent thromboembolism Pyropoikilocytosis Schistocytosis Compensated hemolytic anemia Portal vein thrombosis Broad nasal tip Primary amenorrhea Intracranial hemorrhage Recurrent lower respiratory tract infections Cerebral edema Astrocytosis Atelectasis Reduced ejection fraction Abnormal cortical gyration Myositis Abnormality of visual evoked potentials Muscle fiber atrophy Abnormality of the periventricular white matter Protruding tongue Weak cry Hypokinesia Focal impaired awareness seizure Respiratory insufficiency due to muscle weakness Lissencephaly Increased connective tissue Diffuse white matter abnormalities Congenital hip dislocation Highly elevated creatine phosphokinase Osteoarthritis Gastrointestinal hemorrhage Hematuria Bruising susceptibility Arthritis Arthralgia Blindness Absent muscle fiber merosin Pontocerebellar atrophy Abnormal brainstem MRI signal intensity Intercostal muscle weakness Abnormality of the temporomandibular joint Hypointensity of cerebral white matter on MRI Inferior vermis hypoplasia Increased endomysial connective tissue Impaired mastication Absence seizures Aspiration Choanal atresia Hyposmia Frontal encephalocele Aplasia/Hypoplasia involving the nose Abnormality of the sense of smell Lacrimal duct stenosis Diastema Hypoplasia of teeth Lacrimation abnormality Hypoplastic labia majora Absent paranasal sinuses Agenesis of permanent teeth Preauricular pit Anophthalmia Reduced number of teeth Anosmia Scrotal hypoplasia Encephalocele Aplasia of the nose Ventriculomegaly Sensorimotor neuropathy Inability to walk Decreased body weight Heterotopia Pachygyria Open mouth Pulmonary arterial hypertension Bradykinesia Focal-onset seizure Polymicrogyria Abnormality of metabolism/homeostasis Ophthalmoplegia Hip dislocation Paralysis Intellectual disability, moderate Gastroesophageal reflux Cerebellar hypoplasia Areflexia Mixed respiratory and metabolic acidosis


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