Create issue ticket

71 Possible Causes for MECP2 Mutations Are Those Found in Females with Rett Syndrome, Microcephaly (2-3 SD)

Did you mean: MECP2 Mutations Are Those Found in Females with Rett Syndrome, Microcephaly (2-3 SD

  • Severe Neonatal-Onset Encephalopathy with Microcephaly

    Discussion Microcephaly is usually defined as an occipitofrontal head circumference (OFC) more than 2 standard deviations (SD) below the mean for sex, age and ethnicity.[pediatriceducation.org] . Incidence of moderate to severe mental retardation  HC from 2-3 SD below the age is 33%.  HC 3 SD, incidence is 62% Not always associated with mental retardation 5.[slideshare.net] Severe microcephaly is used for OFC 3 standard deviations. Rates of microcephaly range from 0.5-12 patients/10,000 live births.[pediatriceducation.org]

  • Rett Syndrome

    Those are found mostly in MDB and the C-terminal end of TRD. Empty red arrows indicate MECP2 mutations, which do not lead to Rett syndrome.[doi.org] Solid red arrows indicate position of mutations of MECP2, which are present in Rett females but not in their parents.[doi.org]

    Missing: Microcephaly (2-3 SD)
  • TORCH Syndrome

    The principal neuroimaging findings in CZS include microcephaly (ie, head circumference 2-3 SD less than mean at a given age), brain parenchymal calcifications (mostly punctate[doi.org] The principal neuroimaging findings in CZS include microcephaly (ie, head circumference 23 SD less than mean at a given age), brain parenchymal calcifications (mostly punctate[ncbi.nlm.nih.gov]

    Missing: MECP2 Mutations Are Those Found in Females with Rett Syndrome
  • Vertical Heterotropia

    PATHOLOGY AND GENETICS OF MCDs Microcephaly Microcephaly, defined as a head circumference 2-3 SD below the mean, is a condition most frequently associated with subnormal intelligence[neuropathology-web.org] Acquired (secondary) microcephaly is caused by prenatal or perinatal brain injury due to hypoxic/ischemic insults, congenital infections, and other causes.[neuropathology-web.org]

    Missing: MECP2 Mutations Are Those Found in Females with Rett Syndrome
  • Microcephaly

    […] those with milder microcephaly (-2 to -3 SD; approximately 40%).[ncbi.nlm.nih.gov] A common finding in microcephaly is also short stature, typically between -1 SD and -2 SD and in Seckel syndrome it ranges between -4 and -12 SD 3 .[centogene.com] Children with severe microcephaly (head circumference -3 SD) are more likely ( approximately 80%) to have imaging abnormalities and more severe developmental impairments than[ncbi.nlm.nih.gov]

    Missing: MECP2 Mutations Are Those Found in Females with Rett Syndrome
  • Carrington Syndrome

    Microcephaly is defined as an occipitofrontal circumference (OFC) of at least 2 or 3 SDs below population norms for age and sex ( 43 ).[pnas.org] Of many possible causes for LB1’s microcephaly, few were systematically investigated. Here we consider DS as a diagnosis for the reasons already stated.[pnas.org]

    Missing: MECP2 Mutations Are Those Found in Females with Rett Syndrome
  • Amish Lethal Microcephaly

    A common finding in microcephaly is also short stature, typically between -1 SD and -2 SD and in Seckel syndrome it ranges between -4 and -12 SD 3.[centogene.com] Proportional microcephaly occurs when the head circumference is 23 SD below the mean in addition to height and weight being at similar percentiles.[mdpi.com] More severe cognitive impairment has been observed in individuals with Seckel syndrome and in those with isolated microcephaly with brain malformations 3.[centogene.com]

    Missing: MECP2 Mutations Are Those Found in Females with Rett Syndrome
  • Pseudo-Zellweger Syndrome

    PATHOLOGY AND GENETICS OF MCDs Microcephaly Microcephaly, defined as a head circumference 2-3 SD below the mean, is a condition most frequently associated with subnormal intelligence[neuropathology-web.org] Acquired (secondary) microcephaly is caused by prenatal or perinatal brain injury due to hypoxic/ischemic insults, congenital infections, and other causes.[neuropathology-web.org]

    Missing: MECP2 Mutations Are Those Found in Females with Rett Syndrome
  • Dysequilibrium Syndrome

    Microcephaly (-3 to -4 SD below the mean) has been reported in a few affected individuals. Life span.[ncbi.nlm.nih.gov] Short stature (height just below the 2 nd centile) is a feature in a few affected individuals. Deep tendon reflexes in the lower extremities tend to be brisk.[ncbi.nlm.nih.gov]

    Missing: MECP2 Mutations Are Those Found in Females with Rett Syndrome
  • Lissencephaly

    PATHOLOGY AND GENETICS OF MCDs Microcephaly Microcephaly, defined as a head circumference 2-3 SD below the mean, is a condition most frequently associated with subnormal intelligence[neuropathology-web.org] Acquired (secondary) microcephaly is caused by prenatal or perinatal brain injury due to hypoxic/ischemic insults, congenital infections, and other causes.[neuropathology-web.org]

    Missing: MECP2 Mutations Are Those Found in Females with Rett Syndrome

Further symptoms