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64 Possible Causes for 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] 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] Gene Human Gene Mutation Database (HGMD) VPS53 SNPedia medical, phenotypic, and genealogical associations of SNPs for VPS53 SNP Genotyping and Copy Number Assay Products[genecards.org]

  • 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] […] learning disabilities lack of emotions, such as smiling, laughing, or making eye contact delayed motor development fatigue irritability delayed puberty in teens Regular checkups[healthline.com]

    Missing: Mutation in the VPS53 Gene
  • Neurocirculatory Asthenia

    […] of expected normal physiological development Excludes: delayed puberty ( E30.0 ) R62.0 Delayed milestone Delayed attainment of expected physiological developmental stage[apps.who.int] Late: · talker · walker R62.8 Other lack of expected normal physiological development Failure to: · gain weight · thrive Infantilism NOS Lack of growth Physical retardation[apps.who.int] Fluid retention NOS R61 Hyperhidrosis R61.0 Localized hyperhidrosis R61.1 Generalized hyperhidrosis R61.9 Hyperhidrosis, unspecified Excessive sweating Night sweats R62 Lack[apps.who.int]

    Missing: Mutation in the VPS53 Gene
  • Epidural Hematoma

    […] movements Delays developmental milestones and motor skills Difficulty grasping and holding onto objects Muscle tone may vary, changing from extremely rigid to extremely floppy[birthinjuryguide.org] In the meantime, the most important thing you can do is observe your child and look for typical signs and symptoms of CP, including: Lack of coordination and jerky, spastic[birthinjuryguide.org]

    Missing: 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] PCH2D ( OMIM ) is caused by mutation in the SEPSECS gene ( OMIM ) on chromosome 4p15.[mendelian.co] […] in the TSEN34 gene ( OMIM ) on chromosome 19q13.[mendelian.co]

    Missing: Lack of Developmental Milestones
  • Neonatal Respiratory Distress Syndrome

    Associated abnormalities are those that can occur in prematurity: germinal matrix hemorrhage, necrotizing enterocolitis, patent ductus arteriosus, delayed developmental milestones[radiopaedia.org] milestones, hypothermia and hypoglycemia.[radiopaedia.org] The lack of surfactant increases the surface tension in alveoli causing collapse. Patients have a decreased lecithin: sphingomyelin ratio.[radiopaedia.org]

    Missing: Mutation in the VPS53 Gene
  • Mental Retardation

    milestones.[www150.statcan.gc.ca] In infancy, abnormal development may be apparent by floppy or spastic muscle tone, lack of visual or auditory response, and/or inadequate sucking response. 123 Eventually,[www150.statcan.gc.ca] […] because it accounts for only 1% of all individuals with mental retardation. 7 Mental retardation is often suspected when the affected individual fails to meet age-appropriate developmental[www150.statcan.gc.ca]

    Missing: Mutation in the VPS53 Gene
  • Hyperpyrexia

    […] of expected normal physiological development Excludes: delayed puberty ( E30.0 ) R62.0 Delayed milestone Delayed attainment of expected physiological developmental stage[apps.who.int] Late: · talker · walker R62.8 Other lack of expected normal physiological development Failure to: · gain weight · thrive Infantilism NOS Lack of growth Physical retardation[apps.who.int] Fluid retention NOS R61 Hyperhidrosis R61.0 Localized hyperhidrosis R61.1 Generalized hyperhidrosis R61.9 Hyperhidrosis, unspecified Excessive sweating Night sweats R62 Lack[apps.who.int]

    Missing: Mutation in the VPS53 Gene
  • Hereditary Hyperekplexia

    Some children with HPX may have a delay in reaching developmental milestones, such as a delay in speaking or walking.[geneticdisordersuk.org] These convulsions are potentially dangerous because they can induce loss of consciousness (syncope) due to a lack of oxygen reaching the brain.[geneticdisordersuk.org]

    Missing: Mutation in the VPS53 Gene
  • Distal Spinal Muscular Atrophy Type 3

    Children are able to achieve developmental milestones and independent walking, and often they maintain walking until adolescence or adulthood.[moveforwardpt.com] Walking may be characterized by a lack of balance, frequent falls, scoliosis, knee extension that is more than usual and causes the knee to “bend backward” slightly, and excessive[moveforwardpt.com]

    Missing: Mutation in the VPS53 Gene

Further symptoms