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Browse result for Baraitser-Winter syndrome

※ introduction

    A syndrome characterized by distinctive facial features including hypertelorism, large eyelid openings, ptosis, high-arched eyebrows, a broad nasal bridge and tip of the nose, a long space between the nose and the upper lip, full cheeks and a pointed chin; structural abnormalities of the brain might also be present.

Reference
DiseaseOntology: Baraitser-Winter syndrome



PTMD IDUniProt AccessionEntrez IDGene NameProtein NameOrganism
PTMD05768P6070960
ACTB
Actin, cytoplasmic 1 [Cleaved into: Actin, cytoplasmic 1, N-terminally processed]
Homo sapiens
PTMD05916P6326171
ACTG1
Actin, cytoplasmic 2 [Cleaved into: Actin, cytoplasmic 2, N-terminally processed]
Homo sapiens