Create issue ticket

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.[sciencedaily.com] 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.[pediatricneurosciences.com] 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.[popsci.com]

  • Mental Retardation

    milestones.[www150.statcan.gc.ca] In mental retardation, the child tends to have delayed milestones and will be slow in talking and walking.[differencebetween.net] milestones, especially language development Behavioral phenotype may also aid diagnosis as course evolves Cytogenetic studies; brain imaging; metabolic studies Will vary[aafp.org]

    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.[patient.info] Clinical description Onset occurs in early childhood, and affected boys may show a delay in motor milestones or global developmental delay.[orpha.net] delay.[patient.info]

    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[thinkgenetic.com] Some children with mucopolysaccharidosis type I (MPS I) have developmental delays.[babysfirsttest.org] Initial symptoms of the four types of Sanfilippo syndrome include hyperactivity, sleep disorders, and delays in attaining developmental milestones (e.g., crawling and walking[rarediseases.org]

    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[my.clevelandclinic.org] Young children with Williams syndrome often experience developmental delays.[williams-syndrome.org] Delayed milestones (predicted by feeding difficulty). Average age to walk is 21 months.[pedclerk.bsd.uchicago.edu]

    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[healthline.com] She was born of a consanguineous marriage, and mental as well as motor milestones had been delayed.[pmj.bmj.com] His motor and mental milestones were delayed. Parents observed decreased height velocity from the age of 3 years.[cjhr.org]

    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[ncbi.nlm.nih.gov] […] development milestones childhood presentation: ataxia, falls, poor school performance adolescent and adult prestenation: psychiatric illnesses, ataxia Radiographic features[radiopaedia.org] […] developmental milestones.[patient.info]

    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.[mendelian.co] 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[ncbi.nlm.nih.gov] PCH2D ( OMIM ) is caused by mutation in the SEPSECS gene ( OMIM ) on chromosome 4p15.[mendelian.co]

    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[nichd.nih.gov] If your baby has poor muscle tone, she may have delays in meeting developmental milestones, like rolling over, sitting up, crawling and walking.[marchofdimes.org] Babies with Down syndrome may reach developmental milestones later than other babies.[marchofdimes.org]

    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[doi.org] ; self-image Growth deficiency Growth deficiencies – Short stature Borderline growth hormone (GH) stimulation tests Growth hormone (GH) replacement Obesity Developmental delay[doi.org]

    Missing: Lack of Developmental Milestones Mutation in the VPS53 Gene