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1,148 Possible Causes for Anemia, Developmental Delay, Muscle Hypotonia

  • Wolman Disease

    Common symptoms in infants include enlarged liver and spleen, poor weight gain, low muscle tone, jaundice, vomiting, diarrhea, developmental delay, anemia, and poor absorption[diseaseinfosearch.org] […] responsible of Wolman disease (WD), a severe systemic disease manifesting in the first days of life with vomiting, diarrhea, failure to thrive, hepatosplenomegaly, jaundice, anemia[ncbi.nlm.nih.gov] Soon after, they develop signs and symptoms of the disease, which may include: Vomiting Diarrhea Poor weight gain Low muscle tone Developmental delay Enlarged liver and spleen[disabled-world.com]

  • Hypophosphatasia

    delay, and seizures.[ncbi.nlm.nih.gov] Relatively few conditions are associated with a low serum alkaline phosphatase including Wilson's disease, hypophosphatasia, pernicious anemia and untreated hypothyroidism[ncbi.nlm.nih.gov] Young children and infants affected with severe forms of HPP, but also adults often present with myopathy characterized by hypotonia or muscle weakness.[ncbi.nlm.nih.gov]

  • Homocystinuria without Methylmalonic Aciduria Type cblG

    Entire body system Developmental Delay Patients also present diffuse encephalopathy and developmental delays . HMAG patients appear normal at birth.[symptoma.com] […] cells, or to show macrocytosis without anemia.[symptoma.com] Patients also present diffuse encephalopathy and developmental delays . Presentation HMAG patients appear normal at birth .[symptoma.com]

  • Methylmalonic Acidemia with Homocystinuria Type cblX

    delay, intellectual deficit and seizures.[orpha.net] Affected infants are presented to the pediatrician with failure to thrive, severe developmental delays, and neurological symptoms.[symptoma.com] Patients with methylmalonic acidemia with homocystinuria of all types can present with developmental delay, signs of megaloblastic anemia (pallor, fatigue, and anorexia),[orpha.net]

  • Homocystinuria with Methylmalonic Aciduria Type cblD

    Individuals suffering from HMMAD present with infantile to juvenile-onset developmental delays and neurological symptoms, and they often have megaloblastic anemia .[symptoma.com] Individuals suffering from HMMAD present with infantile to juvenile-onset developmental delays and neurological symptoms, and they often have megaloblastic anemia.[symptoma.com] Patients with methylmalonic acidemia with homocystinuria of all types can present with developmental delay, signs of megaloblastic anemia (pallor, fatigue, and anorexia),[orpha.net]

  • Methylmalonic Acidemia with Homocystinuria Type cblC

    delay, intellectual deficit and seizures.[orpha.net] About 90% of patients are presented in the neonatal period or infancy with failure to thrive, developmental delays, and neurological symptoms.[symptoma.com] Patients with methylmalonic acidemia with homocystinuria of all types can present with developmental delay, signs of megaloblastic anemia (pallor, fatigue, and anorexia),[orpha.net]

  • Propionic Acidemia

    Propionic acidemia (PA) is an organic acidemia which has a broad range of neurological complications, including developmental delay, intellectual disability, structural abnormalities[ncbi.nlm.nih.gov] Anemia was corrected, and the growth rate and mental development improved significantly.[ncbi.nlm.nih.gov] Clinical presentation was with acute aphasia, generalized hypotonia, and muscle weakness.[ncbi.nlm.nih.gov]

  • Methylmalonic Acidemia

    See a provider if your child has signs of failure-to-thrive or developmental delays. A low-protein diet can help reduce the number of acidemia attacks.[nlm.nih.gov] Abstract We studied a six-month-old infant with severe megaloblastic anemia, coma and hyperpigmentation of the extremities.[ncbi.nlm.nih.gov] 8), muscle hypotonia (n 8), recurrent vomiting (n 4), tremor (n 2), ataxia (n 2), and abnormal posture (n 1).The onset age of seizure ranged from 8 days to 11 years.[ncbi.nlm.nih.gov]

  • Methylmalonic Acidemia with Homocystinuria Type cblJ

    Most of them are soon presented to the pediatrician showing failure to thrive, developmental delays, and neurological symptoms.[symptoma.com] This condition, which usually appears in early infancy, is characterized by vomiting, dehydration, weak muscle tone (hypotonia), and excessive tiredness (lethargy).[oaanews.org] Babies may also have weak muscle tone ( hypotonia ) and seizures .[rarediseases.info.nih.gov]

  • Lesch Nyhan Syndrome

    Because a lack of HPRT causes the body to poorly utilize vitamin B12, some boys may develop a rare disorder called megaloblastic anemia.[ninds.nih.gov] A 12 month-old male baby who had orange crystals over the diapers since he was 3 months old was brought to our hospital due to developmental delay.[ncbi.nlm.nih.gov] […] tone or soft muscles (hypotonia).[thinkgenetic.com]

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