FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Seckel syndrome 1 ID (Ontology) DOID:0070007 (Human Disease)
Definition A Seckel syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ATR gene on chromosome 3q23.
Also Known As "microcephalic primordial dwarfism I" ; "SCKL1"
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 Genes
 Seckel syndrome 1       1
 for disease ribbon | Seckel syndrome 1       1
 model of | Seckel syndrome 1       1
Spanning Tree (Parents/Children)
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autosomal recessive disease__
syndrome_____________________|
                             Seckel syndrome
                              |__Seckel syndrome 1  1 rec.
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Is a Seckel syndrome
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Synonyms
  • "microcephalic primordial dwarfism I" EXACT
    "SCKL1" EXACT OMO:0003012
Secondary IDs
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MESH:C537533
MIM:210600