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MCID: SCK032
MIFTS: 18
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Seckel Syndrome 6
Categories:
Genetic diseases, Neuronal diseases, Fetal diseases, Rare diseases, Bone diseases
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MalaCards integrated aliases for Seckel Syndrome 6:
Characteristics:HPO:32Classifications:
MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases Anatomical: Neuronal diseases Bone diseases |
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UniProtKB/Swiss-Prot
:
75
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, is also known as sckl6. An important gene associated with Seckel Syndrome 6 is CEP63 (Centrosomal Protein 63). Related phenotypes are microcephaly and delayed speech and language development Disease Ontology : 12 A Seckel syndrome that has material basis in homozygous mutation in the CEP63 gene on chromosome 3q22.
Description from OMIM:
614728
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Diseases in the Seckel Syndrome family:
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Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:614728Human phenotypes related to Seckel Syndrome 6:32
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Genes related to Seckel Syndrome 6 (1 elite genes):
- Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Seckel Syndrome 6:6
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Search
GEO
for disease gene expression data for Seckel Syndrome 6.
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