MCPH11
MCID: MCR249
MIFTS: 32
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Microcephaly 11, Primary, Autosomal Recessive (MCPH11)
Categories:
Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Microcephaly 11, Primary, Autosomal Recessive:
Characteristics:OMIM®:57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive
Miscellaneous:
one family has been reported (last curated september 2013) HPO:31Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Neuronal diseases Eye diseases Mental diseases |
UniProtKB/Swiss-Prot :
73
Microcephaly 11, primary, autosomal recessive: A form of microcephaly, a disease defined as a head circumference more than 3 standard deviations below the age-related mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small.
MalaCards based summary : Microcephaly 11, Primary, Autosomal Recessive, also known as primary autosomal recessive microcephaly 11, is related to seckel syndrome 2 and seckel syndrome 5. An important gene associated with Microcephaly 11, Primary, Autosomal Recessive is PHC1 (Polyhomeotic Homolog 1). Affiliated tissues include cortex and brain, and related phenotypes are microcephaly and short stature Disease Ontology : 12 A primary autosomal recessive microcephaly that has material basis in homozygous or compound heterozygous mutation in the PHC1 gene on chromosome 12p13. |
Human phenotypes related to Microcephaly 11, Primary, Autosomal Recessive:31
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MalaCards organs/tissues related to Microcephaly 11, Primary, Autosomal Recessive:40
Cortex,
Brain
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Articles related to Microcephaly 11, Primary, Autosomal Recessive:
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ClinVar genetic disease variations for Microcephaly 11, Primary, Autosomal Recessive:6
UniProtKB/Swiss-Prot genetic disease variations for Microcephaly 11, Primary, Autosomal Recessive:73
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Search
GEO
for disease gene expression data for Microcephaly 11, Primary, Autosomal Recessive.
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Cellular components related to Microcephaly 11, Primary, Autosomal Recessive according to GeneCards Suite gene sharing:
Biological processes related to Microcephaly 11, Primary, Autosomal Recessive according to GeneCards Suite gene sharing:
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