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ENSeckel Syndrome 1 (SCKL1)
Alias:
Microcephalic Primordial Dwarfism I
Nanocephalic Dwarfism
Sckl1
Seckel-Type Dwarfism
Bird-Headed Dwarfism
Seckel Syndrome, Type 1
Seckel Syndrome
Sckl
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Seckel Syndrome 1, also known as microcephalic primordial dwarfism i, is related to seckel syndrome and aplastic anemia, and has symptoms including seizures An important gene associated with Seckel Syndrome 1 is ATR (ATR Serine/Threonine Kinase), and among its related pathways/superpathways are DNA damage_ATM/ATR regulation of G1/S checkpoint and ATR signaling. Affiliated tissues include bone and myeloid, and related phenotypes are intellectual disability and seizure
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MALACARDS
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