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1,759 Possible Causes for Delayed Milestone, Lack of Developmental Milestones, Mutation in the VPS53 Gene

  • Pontocerebellar Hypoplasia Type 2E

    The disease, which the researchers have called PCCA2 (Progressive Cerebello-Cerebral Atrophy Type 2), is caused by two mutations in the VPS53 gene.[] A 2-year-old girl presented with delayed milestones and floppiness. She was the second child of a non-consanguineous couple with no perinatal or antenatal complications.[] In the case of PCCA, the families that have it may have one of two mutations in one gene called SepSecS, or one mutation in an unrelated gene, called VPS53.[]

  • Mental Retardation

    milestones.[] In mental retardation, the child tends to have delayed milestones and will be slow in talking and walking.[] milestones, especially language development Behavioral phenotype may also aid diagnosis as course evolves Cytogenetic studies; brain imaging; metabolic studies Will vary[]

    Missing: Mutation in the VPS53 Gene
  • Duchenne Muscular Dystrophy

    All patients have symptoms by age 3 years but diagnosis is often delayed. Presenting features are: Motor milestones delayed.[] Clinical description Onset occurs in early childhood, and affected boys may show a delay in motor milestones or global developmental delay.[] delay.[]

    Missing: Lack of Developmental Milestones Mutation in the VPS53 Gene
  • Mucopolysaccharidosis

    However, some children can have delays in reaching developmental milestones or learning disabilities because of certain symptoms, particularly spinal problems, related to[] Some children with mucopolysaccharidosis type I (MPS I) have developmental delays.[] Initial symptoms of the four types of Sanfilippo syndrome include hyperactivity, sleep disorders, and delays in attaining developmental milestones (e.g., crawling and walking[]

    Missing: Lack of Developmental Milestones Mutation in the VPS53 Gene
  • Disproportionate Short Stature - Ptosis - Valvular Heart Lesions

    milestones such as sitting and walking Unique personality traits: overly friendly (lack of “stranger danger”), attention problems, excessive empathy, specific phobias, anxiety[] Young children with Williams syndrome often experience developmental delays.[] Delayed milestones (predicted by feeding difficulty). Average age to walk is 21 months.[]

    Missing: Mutation in the VPS53 Gene
  • Growth Failure

    Some children who fail to thrive exhibit the following symptoms: lack of weight gain delays in reaching developmental milestones, such as rolling over, crawling, and talking[] She was born of a consanguineous marriage, and mental as well as motor milestones had been delayed.[] His motor and mental milestones were delayed. Parents observed decreased height velocity from the age of 3 years.[]

    Missing: Mutation in the VPS53 Gene
  • 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[] […] development milestones childhood presentation: ataxia, falls, poor school performance adolescent and adult prestenation: psychiatric illnesses, ataxia Radiographic features[] […] developmental milestones.[]

    Missing: Lack of Developmental Milestones Mutation in the VPS53 Gene
  • Autosomal Recessive Primary Microcephaly Type 10

    PCH2E ( OMIM ) is caused by mutation in the VPS53 gene ( OMIM ) on chromosome 17p13. PCH2F ( OMIM ) is caused by mutation in the TSEN15 gene ( OMIM ) on chromosome 1q25.[] Profound global developmental delay MedGen UID: 766364 • Concept ID: C3553450 • Disease or Syndrome A profound delay in the achievement of motor or mental milestones in the[] PCH2D ( OMIM ) is caused by mutation in the SEPSECS gene ( OMIM ) on chromosome 4p15.[]

    Missing: Lack of Developmental Milestones
  • 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[] If your baby has poor muscle tone, she may have delays in meeting developmental milestones, like rolling over, sitting up, crawling and walking.[] Babies with Down syndrome may reach developmental milestones later than other babies.[]

    Missing: Lack of Developmental Milestones Mutation in the VPS53 Gene
  • CHARGE Syndrome

    Developmental delayDelayed motor milestones, language delay, mental retardation Educational, behavioural, social adjustment issues; Autistic-like problems; Obsessive compulsive[] ; self-image Growth deficiency Growth deficiencies – Short stature Borderline growth hormone (GH) stimulation tests Growth hormone (GH) replacement Obesity Developmental delay[]

    Missing: Lack of Developmental Milestones Mutation in the VPS53 Gene