Autoimmunity, and Elevated hepatic transaminase

Diseases related with Autoimmunity and Elevated hepatic transaminase

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


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Low match HELLP SYNDROME


Preeclampsia, which along with chronic hypertension and gestational hypertension comprise the hypertensive disorders of pregnancy, is characterized by new hypertension (blood pressure 140/90 or greater) presenting after 20 weeks' gestation with clinically relevant proteinuria. Preeclampsia is 1 of the top 4 causes of maternal mortality and morbidity worldwide (summary by Payne et al., 2011).Preeclampsia is otherwise known as gestational proteinuric hypertension (Davey and MacGillivray, 1988). A high proportion of patients with preeclampsia have glomerular endotheliosis, the unique histopathologic feature of the condition (Fisher et al., 1981). A distinct form of severe preeclampsia is characterized by hemolysis, elevated liver enzymes, and low platelets (HELLP syndrome) (Brown et al., 2000). Genetic Heterogeneity of Preeclampsia/EclampsiaSusceptibility loci for preeclampsia/eclampsia include PEE1 on chromosome 2p13, PEE2 (OMIM ) on chromosome 2p25, and PEE3 (OMIM ) on chromosome 9p13. PEE4 (OMIM ) is caused by mutation in the STOX1 gene (OMIM ) on chromosome 10q22. PEE5 (OMIM ) is caused by mutation in the CORIN gene (OMIM ) on chromosome 4p12. An association with PEE has been found with the EPHX1 gene (OMIM ) on chromosome 1q.

HELLP SYNDROME Is also known as hemolysis-elevated liver enzymes-low platelets syndrome|toxemia of pregnancy|hemolysis, elevated liver enzymes, low platelets in pregnancy|preg1|pee

Related symptoms:

  • Seizures
  • Hypertension
  • Intrauterine growth retardation
  • Edema
  • Renal insufficiency


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about HELLP SYNDROME

Low match FADD-RELATED IMMUNODEFICIENCY


FADD-related immunodeficiency is a rare genetic immunological disease reported in a single consanguineous Pakistani family with several affected members presenting with severe bacterial and viral infections, recurrent hepatopathy (portal inflammation, fibrosis), and recurrent, stereotypical febrile episodes, sometimes lasting several days, with encephalopathy and difficult-to-control seizures. Variable cardiac malformations were also reported. Although there were autoimmune lymphoproliferative syndrome (ALPS)-like biological features, clinical ALPS was not present. A homozygous missense mutation in the FADD gene (11q13.3) was found in the family and the disease is thought to follow an autosomal recessive pattern of inheritance.

FADD-RELATED IMMUNODEFICIENCY Is also known as fadd deficiency

Related symptoms:

  • Seizures
  • Fever
  • Ventricular septal defect
  • Cerebral atrophy
  • Recurrent infections


SOURCES: OMIM ORPHANET MENDELIAN

More info about FADD-RELATED IMMUNODEFICIENCY

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

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Other less relevant matches:

Low match REYNOLDS SYNDROME


Reynolds syndrome (RS) is an autoimmune disorder characterized by the association of primary biliary cirrhosis (PBC) with limited cutaneous systemic sclerosis (lcSSc) (see these terms).

REYNOLDS SYNDROME Is also known as primary biliary cirrhosis and systemic scleroderma|primary biliary cirrhosis, scleroderma, raynaud disease, and telangiectasia

Related symptoms:

  • Pain
  • Hepatomegaly
  • Fever
  • Fatigue
  • Dysphagia


SOURCES: OMIM ORPHANET MENDELIAN

More info about REYNOLDS SYNDROME

Low match COMMON VARIABLE IMMUNODEFICIENCY


Common variable immunodeficiency (CVID) comprises a heterogeneous group of diseases characterized by a significant hypogammaglobulinemia of unknown cause, failure to produce specific antibodies after immunizations and susceptibility to bacterial infections, predominantly caused by encapsulated bacteria.

COMMON VARIABLE IMMUNODEFICIENCY Is also known as primary antibody deficiency|cvid|antibody deficiency due to icos defect|idiopathic immunoglobulin deficiency|primary hypogammaglobulinemia

Related symptoms:

  • Hepatomegaly
  • Diarrhea
  • Splenomegaly
  • Immunodeficiency
  • Recurrent infections


SOURCES: ORPHANET OMIM MENDELIAN

More info about COMMON VARIABLE IMMUNODEFICIENCY

Low match VASCULITIS DUE TO ADA2 DEFICIENCY


Vasculitis due to ADA2 deficiency is a rare, genetic, systemic and rheumatologic disease due to adenosine deaminase-2 inactivating mutations, combining variable features of autoinflammation, vasculitis, and a mild immunodeficiency. Variable clinical presentation includes chronic or recurrent systemic inflammation with fever, livedo reticularis or racemosa, early-onset ischemic or hemorrhagic strokes, peripheral neuropathy, abdominal pain, hepatosplenomegaly, portal hypertension, cutaneous polyarteritis nodosa, variable cytopenia and immunoglobulin deficiency.

VASCULITIS DUE TO ADA2 DEFICIENCY Is also known as ada2 deficiency|vasculitis due to dada2

Related symptoms:

  • Ataxia
  • Pain
  • Anemia
  • Hypertension
  • Peripheral neuropathy


SOURCES: OMIM ORPHANET MENDELIAN

More info about VASCULITIS DUE TO ADA2 DEFICIENCY

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 CELIAC DISEASE, SUSCEPTIBILITY TO, 1; CELIAC1


Celiac disease, also known as celiac sprue and gluten-sensitive enteropathy (GSE), is a multifactorial disorder of the small intestine that is influenced by both environmental and genetic factors. It is characterized by malabsorption resulting from inflammatory injury to the mucosa of the small intestine after the ingestion of wheat gluten or related rye and barley proteins (summary by Farrell and Kelly, 2002). Long regarded as gastrointestinal disorder of childhood, the disease is now considered to be a chronic systemic autoimmune disease and is more often diagnosed in adults than in children (Monsuur et al., 2005).For a discussion of genetic heterogeneity of celiac disease, see MAPPING.

CELIAC DISEASE, SUSCEPTIBILITY TO, 1; CELIAC1 Is also known as celiac sprue, susceptibility to, 1|gluten-sensitive enteropathy, susceptibility to, 1

Related symptoms:

  • Seizures
  • Short stature
  • Ataxia
  • Failure to thrive
  • Anemia


SOURCES: OMIM MENDELIAN

More info about CELIAC DISEASE, SUSCEPTIBILITY TO, 1; CELIAC1

Low match LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1; CGL1


Congenital generalized lipodystrophy (CGL), or Berardinelli-Seip syndrome, is a rare autosomal recessive disease characterized by a near absence of adipose tissue from birth or early infancy and severe insulin resistance. Other clinical and biologic features include acanthosis nigricans, muscular hypertrophy, hepatomegaly, altered glucose tolerance or diabetes mellitus, and hypertriglyceridemia (Garg, 2004). Genetic Heterogeneity of Congenital Generalized LipodystrophyCongenital generalized lipodystrophy type 2 (OMIM ) is caused by mutation in the BSCL2 gene (OMIM ). Congenital generalized lipodystrophy type 3 (OMIM ) is caused by mutation in the CAV1 gene (OMIM ). Congenital generalized lipodystrophy type 4 (OMIM ) is caused by mutation in the PTRF gene (OMIM ).

LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1; CGL1 Is also known as berardinelli-seip congenital lipodystrophy, type 1|lipodystrophy, berardinelli-seip congenital, type 1|brunzell syndrome, agpat2-related|bscl1

Related symptoms:

  • Intellectual disability
  • Cognitive impairment
  • Hypertension
  • Peripheral neuropathy
  • Hepatomegaly


SOURCES: OMIM MENDELIAN

More info about LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1; CGL1

Low match PRIMARY SCLEROSING CHOLANGITIS


Primary sclerosing cholangitis (PSC) is a rare, slowly progressive liver disease characterized by inflammation and destruction of the intra- and/or extra-hepatic bile ducts that lead to cholestasis, liver fibrosis, liver cirrhosis and ultimately liver failure.

PRIMARY SCLEROSING CHOLANGITIS Is also known as psc

Related symptoms:

  • Pain
  • Hypertension
  • Hepatomegaly
  • Fever
  • Fatigue


SOURCES: ORPHANET OMIM MENDELIAN

More info about PRIMARY SCLEROSING CHOLANGITIS

Top 5 symptoms//phenotypes associated to Autoimmunity and Elevated hepatic transaminase

Symptoms // Phenotype % cases
Hepatomegaly Common - Between 50% and 80% cases
Splenomegaly Common - Between 50% and 80% cases
Fever Common - Between 50% and 80% cases
Abnormality of the liver Uncommon - Between 30% and 50% cases
Hepatosplenomegaly Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Autoimmunity and Elevated hepatic transaminase. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Hypertension Fatigue Seizures Cholestasis Jaundice Abdominal pain Ascites Hepatitis Cirrhosis Skin rash Pain Dilatation Anemia Pneumonia Encephalopathy Recurrent infections

Rare Symptoms - Less than 30% cases


Purpura Steatorrhea Encephalitis Type I diabetes mellitus Congestive heart failure Pruritus Immunodeficiency Arthritis Elevated erythrocyte sedimentation rate Thrombocytosis Abnormal intestine morphology Weight loss Antiphospholipid antibody positivity Myalgia Vitamin K deficiency Vasculitis Celiac disease Raynaud phenomenon Thyroiditis Vitamin D deficiency Decreased antibody level in blood Lymphoma Lymphadenopathy Arthralgia Ataxia Peripheral neuropathy Palmar telangiectasia Prolonged prothrombin time Diarrhea Osteoporosis IgA deficiency Cholelithiasis Depressivity Hemolytic anemia Edema Cerebral calcification Renal insufficiency Irritability Thrombocytopenia Cerebral atrophy Esophageal varix Hepatic fibrosis Hyperbilirubinemia Cerebral hemorrhage Alopecia Diffuse cerebral atrophy Morphological abnormality of the pyramidal tract Recurrent aphthous stomatitis Vegetative state Lymphocytosis Acrocyanosis Folate deficiency Progressive encephalopathy Abnormality of the abdominal wall Episodic fever Stomatitis Atrophy/Degeneration affecting the brainstem Basal ganglia calcification Prolonged neonatal jaundice Vitamin B12 deficiency Intellectual disability Cognitive impairment Cardiomyopathy Intellectual disability, mild Congenital glaucoma Hernia Hyperhidrosis CSF pleocytosis Autoamputation Prolonged partial thromboplastin time Hypoplasia of dental enamel Vomiting Anxiety Postnatal growth retardation Malabsorption Delayed puberty Diabetes mellitus Polyneuropathy Abdominal distention Nevus Eczema Failure to thrive Inflammatory abnormality of the skin Short stature Increased CSF interferon alpha Chronic fatigue Deep white matter hypodensities Chronic CSF lymphocytosis Chilblains Chronic diarrhea Hypocalcemia CSF lymphocytic pleiocytosis Multiple gastric polyps Spontaneous abortion Rickets Abnormality of the coagulation cascade Malnutrition Macrocytic anemia Iron deficiency anemia Infertility Acanthosis nigricans Mandibular prognathia Portal hypertension Uveitis Amyloidosis Abnormality of the thyroid gland Generalized amyotrophy Inflammation of the large intestine Pleural effusion Hypoalbuminemia Acute hepatic failure Pancreatitis Scarring Osteopenia Generalized muscular appearance from birth Labial hypertrophy Cystic angiomatosis of bone Reduced intrathoracic adipose tissue Hepatocellular carcinoma Ulcerative colitis Prominent umbilicus Abnormal biliary tract morphology Dilated superficial abdominal veins Recurrent systemic pyogenic infections Neoplasm of the gallbladder Abnormal large intestine physiology Spider hemangioma Polyclonal elevation of IgM Elevated alkaline phosphatase of hepatic origin Chronic hepatic failure Cholestatic liver disease Vitamin A deficiency Cholangiocarcinoma Vitamin E deficiency Sclerosing cholangitis Abnormal eosinophil morphology Histiocytosis Cholangitis Insulin-resistant diabetes mellitus at puberty Decreased serum leptin Macrotia Hypertrichosis Hyperlipidemia Spastic diplegia Accelerated skeletal maturation Insulin resistance Nephrolithiasis Tall stature Abnormality of the genital system Hypertriglyceridemia Hyperinsulinemia Epidermal acanthosis Triangular face Nephropathy Hepatic steatosis Hirsutism Hypertrophic cardiomyopathy Umbilical hernia Polycystic ovaries Lipodystrophy Congenital generalized lipodystrophy Long foot Decreased fertility in females Generalized lipodystrophy Acute pancreatitis Glioma Bone cyst Abnormality of the ovary Angina pectoris Oligomenorrhea Clitoral hypertrophy Abnormality of lipid metabolism Insulin-resistant diabetes mellitus Lipoatrophy Polyphagia High pitched voice Skeletal muscle hypertrophy Large hands Petechiae Nystagmus Systemic lupus erythematosus Elevated alkaline phosphatase Antinuclear antibody positivity Xerostomia Irregular hyperpigmentation Keratoconjunctivitis sicca Scleroderma Telangiectasia of the skin Skin ulcer Biliary cirrhosis Telangiectasia Gastrointestinal hemorrhage Gastroesophageal reflux Respiratory insufficiency Dysphagia Increased red cell hemolysis by shear stress Calcinosis Lichenification Increased intracellular sodium Anal atresia Lymphopenia Sinusitis Bronchiectasis Recurrent otitis media Otitis media Neutropenia Brachycephaly Abnormality of the gastric mucosa Recurrent respiratory infections Generalized abnormality of skin Calcinosis cutis Lip telangiectasia Sclerodactyly Mucosal telangiectasiae Exercise-induced hemolysis Increased mean corpuscular hemoglobin concentration Recurrent bacterial infections Generalized-onset seizure Muscular dystrophy Pallor Respiratory failure Autoimmune antibody positivity Pulmonary artery atresia Decreased liver function Abnormality of cardiovascular system morphology Limb-girdle muscular dystrophy Ventricular septal defect Maternal hypertension Eclampsia Preeclampsia Proteinuria Intrauterine growth retardation Dehydration Hyperkalemia Recurrent thromboembolism Stomatocytosis Pyropoikilocytosis Schistocytosis Compensated hemolytic anemia Portal vein thrombosis Chronic hemolytic anemia Hemoglobinuria Intermittent jaundice Pericardial effusion Gastritis Elliptocytosis Spherocytosis Generalized edema Increased serum ferritin Reticulocytosis Thromboembolism Recurrent pneumonia Conjunctivitis Poor head control Generalized hypotonia Cerebellar atrophy Abnormality of the skeletal system Feeding difficulties Spasticity Strabismus Microcephaly Global developmental delay Agenesis of corpus callosum Central retinal artery occlusion Retinal arterial occlusion Lupus anticoagulant Pure red cell aplasia Panniculitis Erythema nodosum Dystonia Glaucoma Immune dysregulation Spastic tetraplegia Cerebral palsy Leukoencephalopathy Leukodystrophy Progressive microcephaly Postnatal microcephaly Intellectual disability, profound Abnormality of extrapyramidal motor function Cerebral cortical atrophy Peripheral demyelination Brain atrophy Tetraplegia Abnormality of the cerebral white matter Severe global developmental delay Feeding difficulties in infancy Muscular hypotonia of the trunk Granulocytopenia Hypercoagulability Failure to thrive in infancy Recurrent bronchitis Recurrent infection of the gastrointestinal tract Gastrointestinal stroma tumor Impaired T cell function B lymphocytopenia IgM deficiency Lymphoproliferative disorder IgG deficiency Humoral immunodeficiency Autoimmune thrombocytopenia Recurrent sinusitis Bronchitis Restrictive ventilatory defect Emphysema Chronic otitis media Autoimmune neutropenia Posterior pharyngeal cleft Aphasia Leukopenia Combined immunodeficiency Agitation Leukocytosis Cutis marmorata Hemiplegia Ischemic stroke Foot dorsiflexor weakness Optic atrophy Hemiparesis Pancytopenia Paraplegia Ophthalmoplegia Papule Stroke Headache Adenocarcinoma of the large intestine



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