Seckel Syndrome 8 (SCKL8)

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Disease Ontology 12 DOID:0070009 OMIM 56 615807 OMIM Phenotypic Series 56 PS210600 MeSH 43 D004392 D008831

MedGen 41 C3891452 CN188187 SNOMED-CT via HPO 68 16507009 224958001 228156007 237836003 247578003 258211005 271611007 32958008 405773007 71286001 91138005 more UMLS 71 C3891452

OMIM : ⁵⁶ Seckel syndrome is a rare autosomal recessive disorder characterized by intrauterine growth retardation, dwarfism, microcephaly with mental retardation, and a characteristic 'bird-headed' facial appearance (summary by Shanske et al., 1997). For a discussion of genetic heterogeneity of Seckel syndrome, see SCKL1 (210600). (615807)

MalaCards based summary : Seckel Syndrome 8, also known as sckl8, is related to microcephaly 15, primary, autosomal recessive and microcephaly 14, primary, autosomal recessive. An important gene associated with Seckel Syndrome 8 is DNA2 (DNA Replication Helicase/Nuclease 2), and among its related pathways/superpathways is Cell Cycle, Mitotic. Affiliated tissues include spinal cord and kidney, and related phenotypes are intellectual disability and global developmental delay

Disease Ontology : ¹² A Seckel syndrome that has material basis in homozygous mutation in the DNA2 gene on chromosome 10q21.

UniProtKB/Swiss-Prot : ⁷³ Seckel syndrome 8: 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.

Clinical features from OMIM:

615807

Search Clinical Trials , NIH Clinical Center for Seckel Syndrome 8

Search GEO for disease gene expression data for Seckel Syndrome 8.