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]

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]

Abnormal rhythmic movements of ankle 0011448 Autosomal dominant inheritance 0000006 Babinski sign 0003487 Decreased nerve conduction velocity 0000762 Dysarthria Difficulty articulating speech 0001260 Dysmetria Lack of coordination of movement 0001310 Hyperactive [rarediseases.info.nih.gov]

Rigidity Neonatal hypotonia Attention deficit hyperactivity disorder Abnormality of movement Dysarthria Type II diabetes mellitus Neurological speech impairment Poor suck Decreased antibody level in blood Delayed puberty Athetosis Choreoathetosis Specific [mendelian.co]

Wilson type X-linked intellectual disability, Wittwer type X-linked intellectual disability, Zorick type X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome X-linked intellectual disability-acromegaly-hyperactivity [se-atlas.de]

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]