Microcephalic Primordial Dwarfism
Microcephalic Primordial Dwarfism
About the Disease
Seckel Syndrome, also known as microcephalic primordial dwarfism, is related to microcephaly 10, primary, autosomal recessive and seckel syndrome 2, and has symptoms including seizures An important gene associated with Seckel Syndrome is ATRIP (ATR Interacting Protein), and among its related pathways/superpathways are Homology Directed Repair and EML4 and NUDC in mitotic spindle formation. Affiliated tissues include bone, bone marrow and olfactory bulb, and related phenotypes are intellectual disability and delayed skeletal maturation
Common Targets
ATRIP
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