Seckel Syndrome 8 (SCKL8)

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Disease Ontology 12 DOID:0070009 OMIM® 57 615807 OMIM Phenotypic Series 57 PS210600 MeSH 44 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® : ⁵⁷ 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) (Updated 05-Mar-2021)

MalaCards based summary : Seckel Syndrome 8, also known as sckl8, is related to isolated growth hormone deficiency and neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities. 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 (Updated 05-Mar-2021)

Search Clinical Trials , NIH Clinical Center for Seckel Syndrome 8

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