MCPH14
MCID: MCR270
MIFTS: 31
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Microcephaly 14, Primary, Autosomal Recessive (MCPH14)
Categories:
Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Microcephaly 14, Primary, Autosomal Recessive:
Characteristics:OMIM®:57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive
Miscellaneous:
one consanguineous pakistani family has been reported (last curated june 2015) HPO:31Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Neuronal diseases Eye diseases Mental diseases |
UniProtKB/Swiss-Prot :
73
Microcephaly 14, primary, autosomal recessive: A form of microcephaly, a disease defined as a head circumference more than 3 standard deviations below the age, sex and ethnically matched mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small.
MalaCards based summary : Microcephaly 14, Primary, Autosomal Recessive, also known as primary autosomal recessive microcephaly 14, is related to corneal dystrophy, meesmann, 1 and microcephaly 19, primary, autosomal recessive. An important gene associated with Microcephaly 14, Primary, Autosomal Recessive is SASS6 (SAS-6 Centriolar Assembly Protein). Affiliated tissues include cortex, and related phenotypes are cerebellar hypoplasia and seizure Disease Ontology : 12 A primary autosomal recessive microcephaly that has material basis in homozygous or compound heterozygous mutation in the SASS6 gene on chromosome 1p21. |
Human phenotypes related to Microcephaly 14, Primary, Autosomal Recessive:31 (show all 7)
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:616402 (Updated 05-Mar-2021) |
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MalaCards organs/tissues related to Microcephaly 14, Primary, Autosomal Recessive:40
Cortex
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Articles related to Microcephaly 14, Primary, Autosomal Recessive:
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ClinVar genetic disease variations for Microcephaly 14, Primary, Autosomal Recessive:6
UniProtKB/Swiss-Prot genetic disease variations for Microcephaly 14, Primary, Autosomal Recessive:73
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Search
GEO
for disease gene expression data for Microcephaly 14, Primary, Autosomal Recessive.
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Cellular components related to Microcephaly 14, Primary, Autosomal Recessive according to GeneCards Suite gene sharing:
Biological processes related to Microcephaly 14, Primary, Autosomal Recessive according to GeneCards Suite gene sharing:
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