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ENShort Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly (SOPH)
Alias:
Soph Syndrome
Soph
Stature, Short, Optic Nerve Atrophy, and Pelger-Huet Anomaly
Short Stature-Optic Atrophy-Pelger-Huc+t Anomaly Syndrome
Short Stature-Optic Atrophy-Pelger-Huët Anomaly Syndrome
Short Stature-Optic Atrophy-Pelger-Huet Anomaly Syndrome
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Short Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly, also known as soph syndrome, is related to 3-methylglutaconic aciduria, type iii and pelger-huet anomaly, and has symptoms including tenting - skin and exophthalmos, bilateral. An important gene associated with Short Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly is NBAS (NBAS Subunit Of NRZ Tethering Complex). Affiliated tissues include neutrophil and eye, and related phenotypes are optic atrophy and short stature
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