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86 Possible Causes for Caused by Mutation in the Very Low Density Lipoprotein Receptor Gene, Microcephaly (2-3 SD)

Did you mean: Caused by Mutation in the Very Low Density Lipoprotein Receptor Gene, Microcephaly (2-3 SD

  • Dysequilibrium Syndrome

    S Türkmen, K Hoffmann, Osman Demirhan, Defne Aruoba, N Humphrey and S Mundlos, Cerebellar hypoplasia, with quadrupedal locomotion, caused by mutations in the very low-density[doi.org] Microcephaly (-3 to -4 SD below the mean) has been reported in a few affected individuals. Life span.[ncbi.nlm.nih.gov] Recessive loss-of-function mutations in the very low density lipoprotein receptor (VLDLR) gene represent the most common cause of DES.[ncbi.nlm.nih.gov]

  • 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: Caused by Mutation in the Very Low Density Lipoprotein Receptor Gene
  • 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: Caused by Mutation in the Very Low Density Lipoprotein Receptor Gene
  • 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: Caused by Mutation in the Very Low Density Lipoprotein Receptor Gene
  • Homozygous Familial Hypercholesterolemia

    Homozygous familial hypercholesterolemia is a rare ( 1 in 1,000,000) inherited (genetic) disorder that is usually due to a double mutation in the gene for the Low Density[rogosin.org] Lipoprotein (LDL) receptor.[rogosin.org] The disease causes very high levels of LDL (“bad”) cholesterol to accumulate in the blood and the lining of arteries starting from birth because the liver cannot clear the[rogosin.org]

    Missing: Microcephaly (2-3 SD)
  • 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: Caused by Mutation in the Very Low Density Lipoprotein Receptor Gene
  • 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: Caused by Mutation in the Very Low Density Lipoprotein Receptor Gene
  • Xanthoma Disseminatum

    […] by mutations in the low density lipoprotein receptor gene (LDLR, 143890.0001) Familial hypercholesterolemia Familial hypercholesterolemia is a condition characterized by[findzebra.com] very high levels of cholesterol in the blood due to mutations in the LDLR gene.[findzebra.com] Hypercholesterolemia, 350-550 mg/L in heterozygotes, 650-1000 mg/L in homozygotes MISCELLANEOUS: Incidence, 1 in 500 heterozygotes, 1 in 1,000,000 homozygotes MOLECULAR BASIS: Caused[findzebra.com]

    Missing: 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]

    Missing: Caused by Mutation in the Very Low Density Lipoprotein Receptor Gene
  • 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: Caused by Mutation in the Very Low Density Lipoprotein Receptor Gene

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