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5,251 Possible Causes for Delayed Milestone, Early-Onset Coronary Artery Stenosis, Mental Retardation

  • Mucopolysaccharidosis 1H

    onset severe regurgitation and stenosis coronary artery disease cardiomegaly: initially hypertrophic then dilated Other features include prominent perivascular spaces hepatosplenomegaly[] The most common symptoms that prompted the workup leading to diagnosis were kyphosis ( n  19; 34.5%), delayed acquisition of motor or language milestones ( n  17; 30.9%),[] retardation.[]

  • Duchenne Muscular Dystrophy

    All patients have symptoms by age 3 years but diagnosis is often delayed. Presenting features are: Motor milestones delayed.[] Some patients also have mild mental retardation. As DMD progresses, a wheelchair may be needed.[] Because of a mild mental retardation, a chromosome analysis and molecular karyotyping were performed, revealing a balanced translocation t(X;4)(p21;q31).arr(1-22,X)x2 dn with[]

    Missing: Early-Onset Coronary Artery Stenosis
  • Mucopolysaccharidosis

    However, some children can have delays in reaching developmental milestones or learning disabilities because of certain symptoms, particularly spinal problems, related to[] The above data could reflect the reduced heparan sulfate storage in her tissues and organs, and in particular in the brain, consequently explaining her moderate mental retardation[] Some children with mucopolysaccharidosis type I (MPS I) have developmental delays.[]

    Missing: Early-Onset Coronary Artery Stenosis
  • CHARGE Syndrome

    Developmental delayDelayed motor milestones, language delay, mental retardation Educational, behavioural, social adjustment issues; Autistic-like problems; Obsessive compulsive[] Finally, the combination of malformations in CHARGE syndrome strongly supports the view that this multiple congenital anomalies/mental retardation syndrome is a polytopic[] Mental retardation can be caused by copy number variations (deletions, insertions, duplications), ranging in size from 1 kb to several megabases.[]

    Missing: Early-Onset Coronary Artery Stenosis
  • Down Syndrome

    One study found that mice with Down syndrome who were treated in the womb with specific chemicals had no delay in achieving several developmental milestones. 1 Another study[] Abstract Although there is considerable variability, most individuals with Down syndrome have mental retardation and speech and language deficits, particularly in language[] If your baby has poor muscle tone, she may have delays in meeting developmental milestones, like rolling over, sitting up, crawling and walking.[]

    Missing: Early-Onset Coronary Artery Stenosis
  • Mental Retardation

    In mental retardation, the child tends to have delayed milestones and will be slow in talking and walking.[] Zigler, Understanding Mental Retardation (1986); American Association on Mental Retardation, Mental Retardation: Definition, Classification, and Systems of Support (1992).[] milestones, especially language development Behavioral phenotype may also aid diagnosis as course evolves Cytogenetic studies; brain imaging; metabolic studies Will vary[]

    Missing: Early-Onset Coronary Artery Stenosis
  • Propionic Acidemia

    At 3 years of age, neurodevelopment showed globally delayed milestones.[] Early OLT may limit the development of mental retardation and/or cardiomyopathy.[] Some children with propionic acidemia (PROP) have developmental delays.[]

    Missing: Early-Onset Coronary Artery Stenosis
  • Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome

    Patients present clinically with vomiting, lethargy, impaired growth and delayed developmental milestones.[] The primary defect in patients presenting with a history of protein intolerance, mental retardation, and epilepsy of variable degree, with the unique triad of hyperornithinemia[] Developmental milestones are typically delayed. Growth may be retarded.[]

    Missing: Early-Onset Coronary Artery Stenosis
  • Niemann-Pick Disease Type C

    Neurological symptoms were generally more common in NP-C cases 4years of age than in younger patients, with the exception of hypotonia and delayed developmental milestones[] A 15-year-old boy was suffering from splenomegaly and a 10-year history of a neurologic disorder that included mental retardation, vertical supranuclear gaze palsy, dysarthria[] […] development milestones childhood presentation: ataxia, falls, poor school performance adolescent and adult prestenation: psychiatric illnesses, ataxia Radiographic features[]

    Missing: Early-Onset Coronary Artery Stenosis
  • Mucopolysaccharidosis 1

    Some children with mucopolysaccharidosis type I (MPS I) have developmental delays.[] Retardation Syndromes 463 L1454611no S1740173 Y alpha-L-iduronidase (IDA, IDUA) deficiency English(JABL) Congenital Mental Retardation Syndromes 463 L1455479no S1741179 Y[] […] developmental milestones and a plateau in development, followed by progressive and inexorable regression.[]

    Missing: Early-Onset Coronary Artery Stenosis

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