physician assistants, nurse practitioners and nurses. [books.google.com]

This information is not intended to be patient education, does not create any patient-physician relationship, and should not be used as a substitute for professional diagnosis and treatment. [diseaseinfosearch.org]

In-Depth Information The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. [rarediseases.info.nih.gov]

Consult your personal physician or other professional health care provider when seeking individualized treatment regarding your medical diagnosis or condition. [varsome.com]

NOT a group practice, NO nurse practitioner or physician assistants. 24/7 access to office/doctor by phone. Scheduling by appointments only." 0 Board Certifications Why does it matter? Dr. [healthgrades.com]

respiratory infections Frequent respiratory infections Multiple respiratory infections respiratory infections, recurrent Susceptibility to respiratory infections [ more ] 0002205 Splenomegaly Increased spleen size 0001744 5%-29% of people have these [rarediseases.info.nih.gov]

respiratory infections Abnormality of the nervous system Hearing impairment Immunodeficiency Autosomal recessive inheritance Intellectual disability, mild Gliosis Flexion contracture Cardiomyopathy Cerebellar atrophy Sepsis Thrombocytopenia Ventriculomegaly [mendelian.co]

Two of the kids died from blood loss and/or sepsis and two passed away of severe myeloid leukemia (AML) or myelomonocytic leukemia (AMMoL).2 Somatic lack of chromosome 7 was identified in marrow from the kid with AMMoL and among the kids with marrow failing [hiv-proteases.com]

[…] leukemia Carious teeth Recurrent respiratory infections Abnormality of the nervous system Hearing impairment Immunodeficiency Autosomal recessive inheritance Intellectual disability, mild Gliosis Flexion contracture Cardiomyopathy Cerebellar atrophy Sepsis [mendelian.co]

Other common, but variable, features include cataracts, seizures, and recurrent infections (summary by Wortmann et al., 2015 and Saunders et al., 2015 ).For a general phenotypic description and a discussion of genetic heterogeneity of 3-methylglutaconic [mendelian.co]

[…] isolated nonketotic Hyperglycinemia Hypergonadotropic ovarian failure, familial or sporadic Hyperh–Hyperk Hyperhidrosis Hyperhomocysteinemia Hyper-IgD syndrome Hyperimidodipeptiduria Hyperimmunoglobinemia D with recurrent fever Hyperimmunoglobulin E - recurrent [sosu.us]

In one kid, monosomy 7 and 126463-64-7 IC50 trisomy 21 had been apparent in the marrow karyotype prior to the advancement of AML and persisted afterward. [hiv-proteases.com]

behavior syndrome X-linked intellectual disability-hypotonic face syndrome X-linked intellectual disability-macrocephaly-macroorchidism syndrome X-linked intellectual disability-plagiocephaly syndrome X-linked intellectual disability-precocious puberty-obesity [se-atlas.de]

[…] descriptionSAMD9L-related ataxia-pancytopenia (ATXPC) syndrome is characterized by cerebellar ataxia, variable hematologic cytopenias, and predisposition to marrow failure, myelodysplasia, and myeloid leukemia, sometimes associated with monosomy 7. [gepedia.com]

Format Definition An autosomal dominant disorder characterized by cerebellar ataxia, variable hematologic cytopenias, and predisposition to bone marrow failure and myeloid leukemia. [uniprot.org]

SAMD9L-related ataxia-pancytopenia (ATXPC) syndrome is characterized by cerebellar ataxia, variable hematologic cytopenias, and predisposition to marrow failure, myelodysplasia, and myeloid leukemia, sometimes associated with monosomy 7. [ncbi.nlm.nih.gov]

Ataxia-pancytopenia (AP) syndrome is seen as a cerebellar ataxia, variable hematologic cytopenias, and predisposition to marrow failing and myeloid leukemia, connected with monosomy 7 sometimes. benefit for clones which have dropped the mutant allele [hiv-proteases.com]

Get Update Overview Ataxia-pancytopenia syndrome is an autosomal dominant disorder characterized by cerebellar ataxia, variable hematologic cytopenias, and presdisposition to bone marrow failure and myeloid leukemia (summary by {1:Chen et al., 2016}) [diseaseinfosearch.org]

[…] descriptionSAMD9L-related ataxia-pancytopenia (ATXPC) syndrome is characterized by cerebellar ataxia, variable hematologic cytopenias, and predisposition to marrow failure, myelodysplasia, and myeloid leukemia, sometimes associated with monosomy 7. [gepedia.com]

Format Definition An autosomal dominant disorder characterized by cerebellar ataxia, variable hematologic cytopenias, and predisposition to bone marrow failure and myeloid leukemia. [uniprot.org]

SAMD9L-related ataxia-pancytopenia (ATXPC) syndrome is characterized by cerebellar ataxia, variable hematologic cytopenias, and predisposition to marrow failure, myelodysplasia, and myeloid leukemia, sometimes associated with monosomy 7. [ncbi.nlm.nih.gov]

Ataxia-pancytopenia (AP) syndrome is seen as a cerebellar ataxia, variable hematologic cytopenias, and predisposition to marrow failing and myeloid leukemia, connected with monosomy 7 sometimes. benefit for clones which have dropped the mutant allele [hiv-proteases.com]

Get Update Overview Ataxia-pancytopenia syndrome is an autosomal dominant disorder characterized by cerebellar ataxia, variable hematologic cytopenias, and presdisposition to bone marrow failure and myeloid leukemia (summary by {1:Chen et al., 2016}) [diseaseinfosearch.org]

Nystagmus, dysmetria, increased deep tendon reflexes, and clonus are common. Gait impairment and other neurologic abnormalities are slowly progressive. [gepedia.com]

Neurologic features variably include slowly progressive cerebellar ataxia or balance impairment with cerebellar atrophy and periventricular white matter T2 hyperintensities in brain MRI, horizontal and vertical nystagmus, dysmetria, dysarthria, pyramidal [rarediseases.info.nih.gov]

Cerebellar ataxia can occur as a result of many diseases and may present with symptoms of an inability to coordinate balance, gait, extremity and eye movements. [2] Lesions to the cerebellum can cause dyssynergia, dysmetria, dysdiadochokinesia, dysarthria [en.wikipedia.org]

Cardinal features - Cerebellar pathology – Stance and gait – Poor regulation and coordination of skilled movements (Dysmetria and dysdiadokinesia) – Eye movement disturbances – Altered Muscle tone (Hypotonia) – Speech (Dysarthria) 6. [slideshare.net]

Nystagmus, dysmetria, increased deep tendon reflexes, and clonus are common. Gait impairment and other neurologic abnormalities are slowly progressive. [gepedia.com]

[…] skull Decreased circumference of cranium Decreased size of skull Reduced head circumference Small head circumference [ more ] 0000252 Pancytopenia Low blood cell count 0001876 Percent of people who have these symptoms is not available through HPO Ankle clonus [rarediseases.info.nih.gov]

50% cases Pica Failure to thrive Acute myeloid leukemia Myelodysplasia Microcephaly Global developmental delay Pancytopenia Cryptorchidism Seizures Delayed speech and language development Scoliosis Ataxia Depressed nasal bridge Abnormal facial shape Clonus [mendelian.co]

Ataxia 0001251 Cerebellar atrophy Degeneration of cerebellum 0001272 Unsteady gait Unsteady walk 0002317 30%-79% of people have these symptoms Abnormal macrophage morphology 0004311 Abnormality of neutrophils 0001874 Acute myelomonocytic leukemia 0004820 Hyperreflexia [rarediseases.info.nih.gov]

SPINOCEREBELLAR ATAXIA 13: SCA 13  CLINICAL SYNOPSIS  Neurological  Miscellaneous  Labs  Gene map locus 19q13.3- q13.4  Ataxia legs Arms  dysarthria  nystagmus  motor dysfunction  poor running  inability to walk by 4-6th decade  hyperreflexia [slideshare.net]

[…] hypocellularity Leukopenia Rare Symptoms - Less than 30% cases Hepatosplenomegaly Aplastic anemia Increased sensitivity to ionizing radiation Infantile muscular hypotonia Sleep apnea Chronic myelogenous leukemia B-cell lymphoma Macrocephaly Acrania Hyperreflexia [mendelian.co]

[…] due to 6-pyruvoyltetrahydrop Hyperphenylalaninemia due to dehydratase deficiency Hyperphenylalaninemia due to GTP cyclohydrolase deficiency Hyperphenylalaninemic embryopathy Hyperpipecolatemia Hyperprolactinemia Hyperprolinemia type II Hyperprolinemia Hyperreflexia [sosu.us]

The cytopenias in all cell lineages ranged from mild to very severe. Onset of neurologic impairment is variable. Nystagmus, dysmetria, increased deep tendon reflexes, and clonus are common. [gepedia.com]

[…] the first ever to third 10 years of their hematologic and lives cytopenias of variable severity. [hiv-proteases.com]

Format Definition An autosomal dominant disorder characterized by cerebellar ataxia, variable hematologic cytopenias, and predisposition to bone marrow failure and myeloid leukemia. [uniprot.org]

Get Update Overview Ataxia-pancytopenia syndrome is an autosomal dominant disorder characterized by cerebellar ataxia, variable hematologic cytopenias, and presdisposition to bone marrow failure and myeloid leukemia (summary by {1:Chen et al., 2016}) [diseaseinfosearch.org]

Exome sequencing of hepatitis B virus-associated hepatocellular carcinoma. Nat Genet. 2012; 44 :1117–21. [ PubMed : 22922871 ] Li CF, Macdonald JR, Wei RY, Ray J, Lau K, Kandel C, Koffman R, Bell S, Scherer SW, Alman BA. [ncbi.nlm.nih.gov]

carcinoma Severe combined immunodeficiency Glioma Acute lymphoblastic leukemia Multiple cafe-au-lait spots Aplasia/Hypoplasia of the thymus Mucosal telangiectasiae IgA deficiency Sensorineural hearing impairment Curly hair Bilateral ptosis Relative macrocephaly [mendelian.co]

carcinoma Hepatorenal syndrome Hepatorenal tyrosinemia Her Herpes Here Hered Heredi Hereditary a – Hereditary m Hereditary amyloidosis Hereditary angioedema Hereditary ataxia Hereditary carnitine deficiency myopathy Hereditary carnitine deficiency syndrome [sosu.us]