Anemia, and Muscular dystrophy

Diseases related with Anemia and Muscular dystrophy

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


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Low match DEHYDRATED HEREDITARY STOMATOCYTOSIS 1 WITH OR WITHOUT PSEUDOHYPERKALEMIA AND/OR PERINATAL EDEMA; DHS1


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

Low match MCLEOD SYNDROME; MCLDS


Hematologically, McLeod syndrome is characterized by the absence of red blood cell Kx antigen, weak expression of Kell red blood cell antigens, acanthocytosis, and compensated hemolysis. Most carriers of this McLeod blood group phenotype have acanthocytosis and elevated serum creatine kinase levels and are prone to develop a severe neurologic disorder resembling Huntington disease (OMIM ). Onset of neurologic symptoms ranges between 25 and 60 years (mean onset 30-40 years), and penetrance appears to be high. Additional symptoms include generalized seizures, neuromuscular symptoms leading to weakness and atrophy, and cardiomyopathy mainly manifesting with atrial fibrillation, malignant arrhythmias, and dilated cardiomyopathy (summary by Jung et al., 2007).The cooccurrence of McLeod syndrome and chronic granulomatous disease (CGD ) results from a contiguous gene deletion (Francke et al., 1985).

MCLEOD SYNDROME; MCLDS Is also known as mcleod phenotype|neuroacanthocytosis, mcleod type

Related symptoms:

  • Seizures
  • Muscle weakness
  • Cognitive impairment
  • Anemia
  • Peripheral neuropathy


SOURCES: MESH OMIM MENDELIAN

More info about MCLEOD SYNDROME; MCLDS

Low match HEMOPHILIA A; HEMA


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

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Other less relevant matches:

Low match PHOSPHOGLYCERATE KINASE 1 DEFICIENCY


Phosphoglycerate kinase-1 deficiency is an X-linked recessive condition with a highly variable clinical phenotype that includes hemolytic anemia, myopathy, and neurologic involvement. Patients can express 1, 2, or all 3 of these manifestations (Shirakawa et al., 2006).

PHOSPHOGLYCERATE KINASE 1 DEFICIENCY Is also known as pgk1 deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Ataxia


SOURCES: MESH OMIM MENDELIAN

More info about PHOSPHOGLYCERATE KINASE 1 DEFICIENCY

Low match EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY


Epidermolysis bullosa simplex with muscular dystrophy (EBS-MD) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized blistering associated with muscular dystrophy.

EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY Is also known as epidermolysis bullosa simplex and limb-girdle muscular dystrophy|md-ebs|ebs-md|mdebs|limb-girdle muscular dystrophy with epidermolysis bullosa simplex

Related symptoms:

  • Short stature
  • Growth delay
  • Muscle weakness
  • Ptosis
  • Anemia


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY

Low match MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY


Mitochondrial NeuroGastroIntestinal Encephalomyopathy (MNGIE) syndrome is characterized by the association of gastrointestinal dysmotility, peripheral neuropathy, chronic progressive external ophthalmoplegia and leukoencephalopathy.

MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY Is also known as myoneurogastrointestinal encephalopathy syndrome|polip syndrome|mitochondrial neurogastrointestinal encephalopathy syndrome, tymp-related|polyneuropathy, ophthalmoplegia, leukoencephalopathy, and intestinal pseudoobstruction|mngie|mngie, tymp-related

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Ataxia
  • Sensorineural hearing impairment
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY

Low match KEARNS-SAYRE SYNDROME


Kearns-Sayre syndrome (KSS) is a mitochondrial disease characterized by progressive external ophthalmoplegia (PEO), pigmentary retinitis and an onset before the age of 20 years. Common additional features include deafness, cerebellar ataxia and heart block.

KEARNS-SAYRE SYNDROME Is also known as ophthalmoplegia, pigmentary degeneration of retina, and cardiomyopathy|cpeo with myopathy|oculocraniosomatic syndrome|ophthalmoplegia, progressive external, with ragged-red fibers|cpeo with ragged-red fibers|chronic progressive external ophthalmoplegia wi

Related symptoms:

  • Seizures
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about KEARNS-SAYRE SYNDROME

Low match CAMURATI-ENGELMANN DISEASE


Camurati-Englemann disease (CED) is a rare, clinically variable bone dysplasia syndrome characterized by hyperostosis of the long bones, skull, spine and pelvis, associated with severe pain in the extremities, a wide-based waddling gait, joint contractures, muscle weakness and easy fatigability. Camurati-Englemann disease (CED) is a rare, clinically variable bone dysplasia syndrome characterized by hyperostosis of the long bones, skull, spine and pelvis, associated with severe pain in the extremities, a wide-based waddling gait, joint contractures, muscle weakness and easy fatigability.

CAMURATI-ENGELMANN DISEASE Is also known as diaphyseal dysplasia 1, progressive|engelmann disease|progressive diaphyseal dysplasia|dpd1|ced|pdd

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Ataxia
  • Muscle weakness
  • Abnormal facial shape


SOURCES: OMIM ORPHANET MENDELIAN

More info about CAMURATI-ENGELMANN DISEASE

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


Autosomal recessive limb-girdle muscular dystrophy type 2R (LGMD2R) is a form of limb-girdle muscular dystrophy characterized by the adolescent or early adulthood-onset of progressive proximal muscle weakness and mild facial muscle weakness, with patients becoming wheelchair bound in their fourth to fifth decade of life. Mild, bilateral winged scapula, incomplete right bundle branch block, and a sinus rhythm with very rare ventricular extrasystoles have also been reported.

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2R Is also known as autosomal recessive limb-girdle muscular dystrophy due to desmin deficiency|lgmd2r

Related symptoms:

  • Muscular dystrophy


SOURCES: ORPHANET MENDELIAN

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

Low match BLOOD GROUP, SS; SS


Ss blood group antigens reside on the red-cell glycoprotein GYPB. The S and s antigens result from a polymorphism at amino acid 29 of GYPB, where S has met29 and s has thr29. The U antigen refers to a short extracellular sequence in GYPB located near the membrane. GYPB, glycophorin A (GYPA ), and glycophorin E (GYPE ) are closely linked on chromosome 4q31. Antigens of the MN blood group (OMIM ) reside on GYPA. The M and N antigens differ at amino acids 1 and 5 of GYPA, where M is ser-ser-thr-thr-gly, and N is leu-ser-thr-thr-glu. The N terminus of GYPB is essentially identical to that of GYPA except that it always expresses the N antigen, denoted 'N' or N-prime. Recombination and gene conversion between GYPA, GYPB, and GYPE lead to hybrid glycophorin molecules and generation of low-incidence antigens. Thus, the MN and Ss blood groups are together referred to as the MNSs blood group system (see {111300}). Recombination results in 3 glycophorin-null phenotypes: En(a-) cells lack GYPA due to recombination between GYPA and GYPB; GYPB-negative (S-s-U-) cells lack GYPB due to recombination in GYPB; and M(k) cells (M-N-S-s-U-) lack both GYPA and GYPB due to recombination between GYPA and GYPE. Individuals with glycophorin-null phenotypes have decreased sialic acid content and increased resistance to malarial infection (see {611162}). GYPA and GYPB are not essential for red-cell development or survival, and GYPA- and GYPB-null phenotypes are not associated with anemia or altered red-cell function (review by Cooling, 2015).

BLOOD GROUP, SS; SS Is also known as ss blood group

Related symptoms:

  • Neoplasm
  • Anemia


SOURCES: OMIM MENDELIAN

More info about BLOOD GROUP, SS; SS

Top 5 symptoms//phenotypes associated to Anemia and Muscular dystrophy

Symptoms // Phenotype % cases
Fatigue Uncommon - Between 30% and 50% cases
Pain Uncommon - Between 30% and 50% cases
Myopathy Uncommon - Between 30% and 50% cases
Muscle weakness Uncommon - Between 30% and 50% cases
Ataxia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Anemia and Muscular dystrophy. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Splenomegaly Skeletal muscle atrophy Peripheral neuropathy Abnormality of mitochondrial metabolism Hepatosplenomegaly Ophthalmoplegia Ptosis Short stature Paralysis Seizures Hearing impairment Cardiomyopathy Elevated serum creatine phosphokinase Ophthalmoparesis Dilated cardiomyopathy Hepatomegaly

Rare Symptoms - Less than 30% cases


Sensorineural hearing impairment Leukoencephalopathy Increased CSF protein Progressive external ophthalmoplegia Mitochondrial myopathy Intellectual disability Poor appetite External ophthalmoplegia Blindness Lactic acidosis Flexion contracture Ragged-red muscle fibers Rhabdomyolysis EMG abnormality Easy fatigability Cardiomegaly Slender build Encephalopathy Cachexia Sensory neuropathy Optic atrophy Dementia Hypogonadism Left ventricular hypertrophy Acidosis Vertigo Carious teeth Dysphagia Proximal muscle weakness Facial palsy Abnormality of the mitochondrion Aphasia Muscle cramps Limb muscle weakness Rod-cone dystrophy Ventricular hypertrophy Bilateral ptosis Reticulocytosis Areflexia Dysarthria Depressivity Hemolytic anemia Elevated hepatic transaminase Arrhythmia Thromboembolism Hyperbilirubinemia Myoclonus Pneumonia Cognitive impairment Jaundice Hypointensity of cerebral white matter on MRI Congestive heart failure Lower limb pain Muscular hypotonia Nystagmus Microcephaly Subsarcolemmal accumulations of abnormally shaped mitochondria Intestinal perforation Generalized hypotonia Small intestinal dysmotility Abnormality of the extraocular muscles Hyporeflexia Atrophic muscularis propria Abnormal cell morphology Severe short stature Delayed skeletal maturation Nyctalopia Abnormality of the ulna Facial paralysis Syncope Abnormality of tibia morphology Abnormality of femur morphology Extramedullary hematopoiesis Otosclerosis Cerebellar hypoplasia Retinopathy Hypothyroidism Reduced visual acuity Diabetes mellitus Abnormality of the humerus Urinary retention Abnormal diaphysis morphology Multiple mitochondrial DNA deletions Increased intracranial pressure Diffuse leukoencephalopathy Axonal degeneration Optic nerve compression Abnormality of the gastrointestinal tract Abnormality of the vasculature Craniofacial osteosclerosis Cortical sclerosis Scleroderma Difficulty climbing stairs Absent Achilles reflex Decreased muscle mass Malnutrition Decreased motor nerve conduction velocity Cortical thickening of long bone diaphyses Abnormal subcutaneous fat tissue distribution Elevated aldolase level Diaphyseal dysplasia Demyelinating peripheral neuropathy Decreased sensory nerve conduction velocity Cranial hyperostosis Macrovesicular hepatic steatosis Sclerosis of skull base Memory impairment Cytochrome C oxidase-negative muscle fibers Gastroparesis Intermittent diarrhea Hyperalaninemia Gastrointestinal dysmotility Limb pain Abnormality of the radius Intestinal pseudo-obstruction Cranial nerve compression Decreased number of large peripheral myelinated nerve fibers Skeletal myopathy Diaphyseal sclerosis Growth hormone deficiency Abnormality of retinal pigmentation Pigmentary retinopathy Proptosis Hypertrophic cardiomyopathy Abnormality of the nervous system Difficulty walking Pes planus Skeletal dysplasia Mandibular prognathia Glaucoma Hyperlordosis Hyperactivity Headache Kyphosis Frontal bossing Gait disturbance Abnormal facial shape Scoliosis Feeding difficulties in infancy Abnormality of pelvic girdle bone morphology Progressive intervertebral space narrowing Diplopia Leukopenia Coxa valga Vasculitis Bone marrow hypocellularity Increased bone mineral density Bone pain Anorexia Tinnitus Lumbar hyperlordosis Waddling gait Limitation of joint mobility Delayed eruption of teeth Genu valgum Delayed puberty Neurological speech impairment Low CSF 5-methyltetrahydrofolate Second degree atrioventricular block Cerebral calcification Adrenal insufficiency Exocrine pancreatic insufficiency Primary adrenal insufficiency Renal tubular acidosis Abnormality of the skull Basal ganglia calcification Bundle branch block Hemiplegia/hemiparesis Heart block Nasal speech Incoordination Atrioventricular block Ventricular arrhythmia Reduced tendon reflexes Gangrene Raynaud phenomenon Hypoparathyroidism Hyperaldosteronism Third degree atrioventricular block Titubation Adrenocorticotropin deficient adrenal insufficiency Folate deficiency Renal Fanconi syndrome Hyperostosis Reduced subcutaneous adipose tissue Sideroblastic anemia Muscle fiber atrophy Elevated erythrocyte sedimentation rate Hypomagnesemia Anterior hypopituitarism Metaphyseal dysplasia Stroke-like episode Gait imbalance Abnormality of the vertebral column Severe lactic acidosis Aplasia/Hypoplasia of the radius First degree atrioventricular block Weight loss Abnormality of the hand Abetalipoproteinemia Gastrointestinal hemorrhage Hematuria Bruising susceptibility Stroke Arthritis Arthralgia Phonic tics Personality disorder Intracranial hemorrhage Tics Acanthocytosis Motor axonal neuropathy Aspiration pneumonia Abnormality of the musculature Obsessive-compulsive behavior Aspiration Osteoarthritis Arthropathy Generalized-onset seizure Persistent bleeding after trauma Delayed speech and language development High palate Global developmental delay Splenic rupture Bleeding with minor or no trauma Oral cavity bleeding Intramuscular hematoma Intraventricular hemorrhage Joint swelling Reduced factor VIII activity Spontaneous hematomas Joint hemorrhage Stomatitis Prolonged partial thromboplastin time Dyschromatopsia Abnormality of the elbow Atrial fibrillation Chorea Renal insufficiency Cholelithiasis Spherocytosis Generalized edema Esophageal varix Increased serum ferritin Pericardial effusion Hyperkalemia Limb-girdle muscular dystrophy Hepatitis Gastritis Dehydration Ascites Abnormality of the liver Pallor Respiratory failure Edema Fever Elliptocytosis Intermittent jaundice Dyskinesia Increased mean corpuscular hemoglobin concentration Ichthyosis Anxiety Dystonia Behavioral abnormality Increased red cell hemolysis by shear stress Exercise-induced hemolysis Increased intracellular sodium Recurrent thromboembolism Stomatocytosis Pyropoikilocytosis Schistocytosis Compensated hemolytic anemia Portal vein thrombosis Chronic hemolytic anemia Antiphospholipid antibody positivity Hemoglobinuria Brachydactyly Visual loss Polycystic ovaries Muscle flaccidity Abdominal pain Constipation Diarrhea Vomiting Punctate keratitis Decreased miniature endplate potentials Urethral stricture Hyperconvex fingernails Distal muscle weakness Scarring alopecia of scalp Oculomotor nerve palsy Increased connective tissue Hypoplastic fingernail Echolalia Nemaline bodies Severe postnatal growth retardation Gastroesophageal reflux Abnormality of the cerebral white matter Fatigable weakness Abdominal distention Hypogonadotrophic hypogonadism Hypergonadotropic hypogonadism Foot dorsiflexor weakness Sensorimotor neuropathy Leukodystrophy Chronic diarrhea Peripheral demyelination Polyneuropathy Malabsorption Distal sensory impairment Distal amyotrophy Cirrhosis Nausea Peripheral axonal neuropathy Paresthesia Abnormality of eye movement Lipoma Aplasia/Hypoplasia of the skin Myalgia Emotional lability Exercise-induced muscle cramps Recurrent myoglobinuria Increased muscle fatiguability Decreased mean corpuscular volume Myoglobinuria Progressive encephalopathy Acute kidney injury Hemiplegia Growth delay Spastic tetraparesis Purpura Exercise intolerance Tetraparesis Migraine Retinal dystrophy Mental deterioration Exercise-induced myoglobinuria Alopecia Skin vesicle Ventricular tachycardia Milia Dysphasia Keratitis Neonatal respiratory distress Dermal atrophy Palmoplantar hyperkeratosis Mutism Abnormality of dental enamel Scarring Progressive muscle weakness Hypoplasia of dental enamel Abnormal blistering of the skin Nail dysplasia Tachycardia Hypotrichosis Nail dystrophy Papule Neoplasm



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