Autoimmunity, and Cyanosis

Diseases related with Autoimmunity and Cyanosis

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


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Low match NEONATAL ACUTE RESPIRATORY DISTRESS DUE TO SP-B DEFICIENCY


Inborn errors of pulmonary surfactant metabolism are genetically heterogeneous disorders resulting in severe respiratory insufficiency or failure in full-term neonates or infants. These disorders are associated with various pathologic entities, including pulmonary alveolar proteinosis (PAP), desquamative interstitial pneumonitis (DIP), or cellular nonspecific interstitial pneumonitis (NSIP) (Clark and Clark, 2005).A clinically similar disorder characterized by respiratory distress (OMIM ) can affect preterm infants, who show developmental deficiency of surfactant.Acquired PAP (OMIM ) is an autoimmune disorder characterized by the presence of autoantobodies to CSF2 (OMIM ). Genetic Heterogeneity of Pulmonary Surfactant Metabolism DysfunctionSee also SMDP2 (OMIM ), caused by mutation in the SPTPC gene (OMIM ) on 8p21; SMDP3 (OMIM ), caused by mutation in the ABCA3 gene (OMIM ) on 16p13; SMDP4 (OMIM ), caused by mutation in the CSF2RA gene (OMIM ) on Xp22; and SMDP5 (OMIM ), caused by mutation in the CSF2RB gene (OMIM ) on 22q12.

NEONATAL ACUTE RESPIRATORY DISTRESS DUE TO SP-B DEFICIENCY Is also known as neonatal acute respiratory distress due to surfactant protein b deficiency|pulmonary alveolar proteinosis, congenital, 1|interstitial lung disease due to surfactant protein b deficiency|interstitial lung disease, nonspecific, due to surfactant protein b d

Related symptoms:

  • Failure to thrive
  • Pain
  • Hypertension
  • Fever
  • Fatigue


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about NEONATAL ACUTE RESPIRATORY DISTRESS DUE TO SP-B DEFICIENCY

Low match MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC; CMS6


Congenital myasthenic syndromes (CMS) are a group of inherited disorders affecting the neuromuscular junction (NMJ). Patients present clinically with onset of variable muscle weakness between infancy and adulthood. These disorders have been classified according to the location of the defect: presynaptic, synaptic, and postsynaptic. CMS6 is an autosomal recessive CMS resulting from a presynaptic defect; patients have onset of symptoms in infancy or early childhood and tend to have sudden apneic episodes. Treatment with acetylcholinesterase inhibitors may be beneficial (summary by Engel et al., 2015).For a discussion of genetic heterogeneity of CMS, see CMS1A (OMIM ).

MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC; CMS6 Is also known as myasthenic syndrome, presynaptic, congenital, associated with episodic apnea|congenital myasthenic syndrome type ia2, formerly|cms ia2, formerly|cms1a2, formerly|cmsea|fimg2, formerly|myasthenia, familial infantile, formerly|myasthenia gravis, familial in

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Hearing impairment
  • Failure to thrive
  • Strabismus


SOURCES: ORPHANET OMIM MENDELIAN

More info about MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC; CMS6

Low match NEONATAL SEVERE PRIMARY HYPERPARATHYROIDISM


Neonatal severe primary hyperparathyroidism (NSHPT) is characterized by severe hypercalcemia (> 3.5 mM) from birth and associated with major hyperparathyroidism.

NEONATAL SEVERE PRIMARY HYPERPARATHYROIDISM Is also known as nhpt|nsph|nshpt|hyperparathyroidism, neonatal severe primary

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Neoplasm
  • Failure to thrive
  • Muscular hypotonia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about NEONATAL SEVERE PRIMARY HYPERPARATHYROIDISM

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Low match SNEDDON SYNDROME


Sneddon's syndrome (SS) is a rare non-inflammatory thrombotic vasculopathy characterized by the combination of cerebrovascular disease with livedo racemosa.

SNEDDON SYNDROME Is also known as livedo reticularis-cerebrovascular accident syndrome|livedo racemosa-cerebrovascular accident syndrome|livedo reticularis and cerebrovascular accidents|ehrmann-sneddon syndrome

Related symptoms:

  • Seizures
  • Muscle weakness
  • Pain
  • Visual impairment
  • Motor delay


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SNEDDON SYNDROME

Low match AICARDI-GOUTIERES SYNDROME 1; AGS1


Aicardi-Goutieres syndrome is a genetically heterogeneous encephalopathy characterized in its most severe form by cerebral atrophy, leukodystrophy, intracranial calcifications, chronic cerebrospinal fluid (CSF) lymphocytosis, increased CSF alpha-interferon (IFNA1 ), and negative serologic investigations for common prenatal infections (Ali et al., 2006). AGS is phenotypically similar to in utero viral infection. Severe neurologic dysfunction becomes clinically apparent in infancy, and manifests as progressive microcephaly, spasticity, dystonic posturing, profound psychomotor retardation, and often death in early childhood. Outside the nervous system, thrombocytopenia, hepatosplenomegaly, and elevated hepatic transaminases along with intermittent fever may also erroneously suggest an infective process (Crow et al., 2006).In a review of AGS, Stephenson (2008) noted that an expanded phenotypic spectrum has been recognized and that most of the original criteria for diagnosis no longer apply: affected individuals may show later onset and may not have severe or progressive neurologic dysfunction, calcification of the basal ganglia, or CSF lymphocytosis. The appearance of chilblains is an important clinical sign for correct diagnosis. The most severe neonatal form of AGS is typically due to mutation in the TREX1 gene.Cree encephalitis was originally considered a separate disorder, but genetic evidence has shown that it is the same as AGS1. See also pseudo-TORCH syndrome (OMIM ), which shows phenotypic overlap and may in some cases represent AGS (Crow et al., 2000; Crow et al., 2003). AGS is distinct from the similarly named Aicardi syndrome (OMIM ), which is characterized by agenesis of the corpus callosum, spinal skeletal abnormalities, and chorioretinal abnormalities. Genetic Heterogeneity of Aicardi-Goutieres SyndromeSee also AGS2 (OMIM ), caused by mutation in the gene encoding subunit B of ribonuclease H2 (RNASEH2B ) on chromosome 13q; AGS3 (OMIM ), caused by mutation in the RNASEH2C gene (OMIM ) on chromosome 11q13.2; AGS4 (OMIM ), caused by mutation in the RNASEH2A gene (OMIM ) on chromosome 19p13.13; AGS5 (OMIM ), caused by mutation in the SAMHD1 gene (OMIM ) on chromosome 20; AGS6 (OMIM ), caused by mutation in the ADAR1 gene (OMIM ) on chromosome 1q21; and AGS7 (OMIM ), caused by mutation in the IFIH1 gene (OMIM ) on chromosome 2q24.

AICARDI-GOUTIERES SYNDROME 1; AGS1 Is also known as cree encephalitis|encephalopathy, familial infantile, with intracranial calcification and chronic cerebrospinal fluid lymphocytosis|ags|pseudotoxoplasmosis syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about AICARDI-GOUTIERES SYNDROME 1; AGS1

Low match PRESYNAPTIC CONGENITAL MYASTHENIC SYNDROMES


Myasthenia gravis is a disease that causes weakness in the muscles under your control. It happens because of a problem in communication between your nerves and muscles. Myasthenia gravis is an autoimmune disease. Your body's own immune system makes antibodies that block or change some of the nerve signals to your muscles. This makes your muscles weaker. Common symptoms are trouble with eye and eyelid movement, facial expression and swallowing. But it can also affect other muscles. The weakness gets worse with activity, and better with rest. There are medicines to help improve nerve-to-muscle messages and make muscles stronger. With treatment, the muscle weakness often gets much better. Other drugs keep your body from making so many abnormal antibodies. There are also treatments which filter abnormal antibodies from the blood or add healthy antibodies from donated blood. Sometimes surgery to take out the thymus gland helps. For some people, myasthenia gravis can go into remission and they do not need medicines. The remission can be temporary or permanent. If you have myasthenia gravis, it is important to follow your treatment plan. If you do, you can expect your life to be normal or close to it. NIH: National Institute of Neurological Disorders and Stroke

Related symptoms:

  • Intellectual disability
  • Seizures
  • Ataxia
  • Nystagmus
  • Sensorineural hearing impairment


SOURCES: ORPHANET MENDELIAN

More info about PRESYNAPTIC CONGENITAL MYASTHENIC SYNDROMES

Low match HEREDITARY SPHEROCYTOSIS


Hereditary spherocytosis is a congenital hemolytic anemia with a wide clinical spectrum (from symptom-free carriers to severe hemolysis) characterized by anemia, variable jaundice, splenomegaly and cholelithiasis.

HEREDITARY SPHEROCYTOSIS Is also known as sph|hs|minkowski-chauffard disease|hs1|spherocytosis, hereditary, 1

Related symptoms:

  • Short stature
  • Anemia
  • Fatigue
  • Abnormality of the skeletal system
  • Cardiomyopathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about HEREDITARY SPHEROCYTOSIS

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 ALSTRÖM SYNDROME


Alström syndrome (AS) is a multisystemic disorder characterized by cone-rod dystrophy, hearing loss, obesity, insulin resistance and hyperinsulinemia, type 2 diabetes mellitus, dilated cardiomyopathy (DCM; see this term), and progressive hepatic and renal dysfunction.

ALSTRÖM SYNDROME Is also known as alss

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ALSTRÖM SYNDROME

Low match CONGENITAL THROMBOTIC THROMBOCYTOPENIC PURPURA


Congenital thrombotic thrombocytopenic purpura is the hereditary form of thrombotic thrombocytopenic purpura (TTP; see this term) characterized by profound peripheral thrombocytopenia, microangiopathic hemolytic anemia (MAHA) and single or multiple organ failure of variable severity.

CONGENITAL THROMBOTIC THROMBOCYTOPENIC PURPURA Is also known as congenital ttp|microangiopathic hemolytic anemia|thrombotic microangiopathy, familial|microangiopathic hemolytic anemia, congenital|congenital adamts-13 deficiency|upshaw factor, deficiency of|uss|thrombotic thrombocytopenic purpura, familial|familial ttp

Related symptoms:

  • Seizures
  • Pain
  • Anemia
  • Hypertension
  • Fever


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL THROMBOTIC THROMBOCYTOPENIC PURPURA

Top 5 symptoms//phenotypes associated to Autoimmunity and Cyanosis

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Fever Uncommon - Between 30% and 50% cases
Fatigue Uncommon - Between 30% and 50% cases
Splenomegaly Uncommon - Between 30% and 50% cases
Failure to thrive Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Autoimmunity and Cyanosis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Hepatomegaly Hepatitis Hemolytic anemia Feeding difficulties Jaundice Pain Anemia Respiratory distress Hypertension Respiratory failure Dyspnea Cholelithiasis Elevated hepatic transaminase Systemic lupus erythematosus Paralysis Nystagmus Short stature Strabismus Generalized hypotonia Headache Hyperbilirubinemia Ophthalmoplegia Reticulocytosis Pallor Motor delay Tachypnea Acrocyanosis

Rare Symptoms - Less than 30% cases


Global developmental delay Abnormal renal physiology Encephalopathy Thrombocytopenia Dilatation Constipation Dystonia Feeding difficulties in infancy Abnormality of the skeletal system Polydipsia Antiphospholipid antibody positivity Personality changes Polyuria Hemiparesis Nephropathy Visual impairment Confusion Pneumonia Tremor Behavioral abnormality Myalgia Proteinuria Hepatosplenomegaly Delayed puberty Abnormality of the kidney Renal insufficiency Vomiting Schistocytosis Nausea Pericardial effusion Hyperkalemia Ascites Abnormality of the liver Elliptocytosis Spherocytosis Autoimmune thrombocytopenia Irritability Cardiomyopathy Kyphoscoliosis Gastroesophageal reflux Recurrent respiratory infections Sensorineural hearing impairment Ataxia Intellectual disability Prolonged neonatal jaundice Poor head control Abdominal pain Skin rash Elevated serum creatinine Hyporeflexia Esophageal varix Dysphagia Nonproductive cough Hashimoto thyroiditis Fatigable weakness Respiratory insufficiency Weak cry Hearing impairment Generalized muscle weakness Diplopia Pulmonary arterial hypertension Easy fatigability Dysarthria Poor suck Glycosuria Hyperventilation Bulbar palsy Right ventricular hypertrophy Respiratory tract infection Arthrogryposis multiplex congenita Weight loss Sudden episodic apnea Proximal muscle weakness Polyhydramnios Apnea Cough Muscle weakness Apneic episodes precipitated by illness, fatigue, stress Acetylcholine receptor antibody positivity Ptosis Precocious puberty Chronic otitis media Nephritis Portal hypertension Lipodystrophy Hyperinsulinemia Insulin-resistant diabetes mellitus Abnormality of the hand Hypoventilation Elevated alkaline phosphatase Pancreatitis Polycystic ovaries Severe sensorineural hearing impairment Goiter Cone/cone-rod dystrophy Hypercholesterolemia Increased number of teeth Aplasia/Hypoplasia of the cerebellum Obsessive-compulsive behavior Hydroureter Bronchitis Glomerulopathy Progressive sensorineural hearing impairment Agenesis of permanent teeth Short finger Polyphagia Chorioretinal atrophy Abnormal retinal morphology Subcapsular cataract Truncal obesity Urinary urgency Pulmonary fibrosis Hyperuricemia Pericarditis Emphysema Atherosclerosis Glucose intolerance Diabetes insipidus Hyperglycemia Hyperostosis Thoracic scoliosis Acne Impaired vibratory sensation Constriction of peripheral visual field Hyperlipidemia Muscle specific kinase antibody positivity Acanthosis nigricans Hirsutism Decreased testicular size Otitis media Growth hormone deficiency Gastrointestinal hemorrhage Round face Urinary incontinence Vesicoureteral reflux Asthma Abdominal distention Sleep disturbance Hepatic steatosis Retinal dystrophy Hepatic failure Specific learning disability Tachycardia Cirrhosis Stage 5 chronic kidney disease Lymphadenopathy Retinal degeneration Dry skin Infertility Carious teeth Pulmonic stenosis Hypermetropia Hypotrichosis Generalized tonic-clonic seizures Progressive visual loss Pigmentary retinopathy Macular degeneration Hepatic fibrosis Accelerated skeletal maturation Nephrocalcinosis Hypogonadotrophic hypogonadism Generalized hirsutism Increased body weight Horizontal nystagmus Recurrent pneumonia Hypergonadotropic hypogonadism Short toe Gynecomastia Sinusitis Hyperpigmentation of the skin Decreased liver function Optic disc pallor Insulin resistance Abnormality of retinal pigmentation Anorexia Chronic diarrhea Thickened skin Left ventricular hypertrophy Recurrent urinary tract infections Involuntary movements Recurrent otitis media Hypertriglyceridemia Epidermal acanthosis Type II diabetes mellitus Cardiomegaly Absence seizures Posterior subcapsular cataract Retinal atrophy Facial hirsutism Granular macular appearance Receptive language delay Hyperostosis frontalis interna Chronic active hepatitis Abnormal adipose tissue morphology Exudative retinopathy Increased circulating androgen level High-frequency sensorineural hearing impairment Childhood-onset truncal obesity Multifocal atrial tachycardia ST segment depression Chronic hepatic failure Dilatation of the bladder Hepatic necrosis Hypoplastic male external genitalia Abnormality of the pituitary gland Urethral obstruction Squared iliac bones Renovascular hypertension Albuminuria Abnormal muscle tone Female hypogonadism Impaired temperature sensation Urethral stricture Abnormal chorioretinal morphology Thickened ears Unilateral breast hypoplasia Abnormality of dental color Hematuria Increased blood urea nitrogen Bloody diarrhea Neonatal hyperbilirubinemia Hemolytic-uremic syndrome Preeclampsia Microscopic hematuria Acute kidney injury Glomerulonephritis Purpura Increased serum lactate Abnormal bleeding Coma Nausea and vomiting Glue ear Arrhythmia Diarrhea Abnormality of the femoral head Vitreous haze Localized hirsutism Abnormality of renal calyx morphology Abnormality of prothrombin EEG with occipital slowing Precocious puberty in females Abnormal retinal artery morphology Widely-spaced incisors Recurrent cystitis Epigastric pain Lumbar scoliosis Peripheral visual field loss Tubular atrophy Menstrual irregularities Decreased HDL cholesterol concentration Ovarian cyst High-frequency hearing impairment Restrictive cardiomyopathy Chronic obstructive pulmonary disease Chronic fatigue Myocardial fibrosis Male hypogonadism Oligospermia Myocarditis Recurrent bronchitis Endocardial fibroelastosis Acute hepatic failure Abnormality of metabolism/homeostasis Attenuation of retinal blood vessels Tubulointerstitial nephritis Pendular nystagmus Gingivitis Ketoacidosis Broad foot Nyctalopia Oligomenorrhea Poor coordination Alopecia of scalp Abnormal renal morphology Retinal pigment epithelial atrophy Abnormality of the urethra Abnormality of female external genitalia Chronic infection Abnormal spermatogenesis Decreased glomerular filtration rate Abnormality of the optic disc First degree atrioventricular block Melena Hematemesis Frontal balding Increased total bilirubin Vertical nystagmus Bull's eye maculopathy Multinodular goiter Hepatic encephalopathy Disinhibition Urethral stenosis Achromatopsia Acute pancreatitis Chills Pyelonephritis Poor fine motor coordination Urinary retention Arteriosclerosis Elevated C-reactive protein level Tubulointerstitial fibrosis Testicular atrophy Abnormal left ventricle morphology Dilated cardiomyopathy Polydactyly Retinopathy Recurrent infections Abnormality of the cerebral white matter Severe global developmental delay Paresthesia Tapered finger Muscular hypotonia of the trunk Psychosis Cerebral cortical atrophy Glaucoma Agenesis of corpus callosum Aspiration Respiratory insufficiency due to muscle weakness Cerebral atrophy Brain atrophy Cerebellar atrophy Rheumatoid arthritis Spasticity Ophthalmoparesis Microcephaly Lupus anticoagulant Vascular skin abnormality Amaurosis fugax Thromboembolic stroke Arterial stenosis Hemianopia Tetraplegia Peripheral demyelination Facial paralysis Atrophy/Degeneration affecting the brainstem Chilblains CSF lymphocytic pleiocytosis Multiple gastric polyps Autoamputation CSF pleocytosis Lymphocytosis Vegetative state Morphological abnormality of the pyramidal tract Diffuse cerebral atrophy Progressive encephalopathy Episodic fever Basal ganglia calcification Cerebral calcification Congenital glaucoma Petechiae Spastic diplegia Encephalitis Cerebral palsy Leukoencephalopathy Leukodystrophy Progressive microcephaly Postnatal microcephaly Intellectual disability, profound Spastic tetraplegia Abnormality of extrapyramidal motor function Cerebral ischemia Peripheral arterial stenosis Deep white matter hypodensities Metaphyseal irregularity Parathyroid adenoma Primary hyperparathyroidism Hyperphosphaturia Elevated circulating parathyroid hormone level Neoplasm of the endocrine system Calcinosis Thyroiditis Hyperparathyroidism Abnormality of the thyroid gland Hypophosphatemia Abnormality of the thymus Pure red cell aplasia Abnormality of calcium-phosphate metabolism Hypercalcemia Hypercalciuria Aminoaciduria Abnormality of the metaphysis Recurrent fractures Narrow chest Hyperacusis Decreased miniature endplate potentials Muscular hypotonia Neoplasm Generalized hypotonia due to defect at the neuromuscular junction Parathyroid hyperplasia EMG: decremental response of compound muscle action potential to repetitive nerve stimulation Arteriovenous malformation Myocardial infarction Transient ischemic attack Thrombocytosis Atrophic scars Visual field defect Aphasia Cutis marmorata Heart murmur Abnormality of the immune system Intracranial hemorrhage Hemiplegia Vasculitis Memory impairment Type 2 muscle fiber atrophy Migraine Chorea Hyperthyroidism Vertigo Stroke Developmental regression Mental deterioration Facial palsy Primary adrenal insufficiency Dementia Raynaud phenomenon Myositis Chronic CSF lymphocytosis Increased CSF interferon alpha Scarring Recurrent thromboembolism Optic atrophy Peripheral neuropathy Delayed speech and language development Cognitive impairment Cataract Growth delay Scoliosis Increased red cell hemolysis by shear stress Exercise-induced hemolysis Increased intracellular sodium Increased mean corpuscular hemoglobin concentration Pyropoikilocytosis Blindness Abnormal lung morphology Compensated hemolytic anemia Portal vein thrombosis Chronic hemolytic anemia Hemoglobinuria Stomatocytosis Intermittent jaundice Gastritis Generalized edema Clubbing Increased serum ferritin Short neck Ventricular hypertrophy Neonatal respiratory distress Chest pain Sparse hair Autistic behavior Postnatal growth retardation Conductive hearing impairment Deeply set eye Photophobia Pes planus Hypothyroidism Autism Hyperkeratosis Single fiber EMG abnormality Diabetes mellitus Congestive heart failure Hypogonadism Hyperhidrosis Myoclonus Rod-cone dystrophy Alopecia Patent ductus arteriosus Visual loss Clinodactyly Depressivity Obesity Kyphosis Abnormality of the dentition Thromboembolism Interstitial pulmonary abnormality Rigidity Microretrognathia Distal lower limb muscle weakness Limb-girdle muscle weakness Obstructive sleep apnea Central hypotonia Neck muscle weakness Spinal rigidity Toe walking Stridor Nasal speech Dysphonia EMG: myopathic abnormalities Congenital hip dislocation Muscle fiber atrophy Decreased fetal movement Waddling gait Esotropia Distal amyotrophy Long face Pectus carinatum Joint laxity Difficulty walking Pes cavus Areflexia High palate Low-set ears Motor polyneuropathy Respiratory arrest Limb-girdle muscular dystrophy Palpitations Dehydration Hemoptysis Muscular dystrophy Edema Erythroid hypoplasia Hypoxemia Foam cells Interstitial pneumonitis Autoimmune hemolytic anemia Productive cough Alveolar proteinosis Erythema Spinal deformities Hypertrophic cardiomyopathy Desquamative interstitial pneumonitis EMG: impaired neuromuscular transmission Episodic respiratory distress Frontalis muscle weakness Intermittent episodes of respiratory insufficiency due to muscle weakness Narrow jaw Choking episodes Nasal regurgitation Staring gaze EEG with polyspike wave complexes Central sleep apnea Microangiopathic hemolytic anemia



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