SCKL6
MCID: SCK032
MIFTS: 29
|
Seckel Syndrome 6 (SCKL6)
Categories:
Bone diseases, Fetal diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases, Smell/Taste diseases
|
|
MalaCards integrated aliases for Seckel Syndrome 6:
Characteristics:HPO:31Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Neuronal diseases Bone diseases Smell/Taste diseases Mental diseases |
UniProtKB/Swiss-Prot :
73
Seckel syndrome 6: A rare autosomal recessive disorder characterized by proportionate dwarfism of prenatal onset associated with low birth weight, growth retardation, severe microcephaly with a bird-headed like appearance, and mental retardation.
MalaCards based summary : Seckel Syndrome 6, also known as sckl6, is related to seckel syndrome and microcephaly 7, primary, autosomal recessive. An important gene associated with Seckel Syndrome 6 is CEP63 (Centrosomal Protein 63), and among its related pathways/superpathways is Organelle biogenesis and maintenance. Related phenotypes are intellectual disability and global developmental delay Disease Ontology : 12 A Seckel syndrome that has material basis in homozygous mutation in the CEP63 gene on chromosome 3q22. |
Human phenotypes related to Seckel Syndrome 6:31
|
|
Articles related to Seckel Syndrome 6:
|
ClinVar genetic disease variations for Seckel Syndrome 6:6
|
Search
GEO
for disease gene expression data for Seckel Syndrome 6.
|
Cellular components related to Seckel Syndrome 6 according to GeneCards Suite gene sharing:
Biological processes related to Seckel Syndrome 6 according to GeneCards Suite gene sharing:
|
|