" /> Nasopalpebral lipoma-coloboma syndrome - CISMeF





Preferred Label : Nasopalpebral lipoma-coloboma syndrome;

Symbol : NPLCS;

CISMeF acronym : NPLCS;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Palpebral coloboma-lipoma syndrome;

Description : Nasopalpebral lipoma-coloboma syndrome is an autosomal dominant condition characterized by upper eyelid and nasopalpebral lipomas, colobomas of upper and lower eyelids, telecanthus, and maxillary hypoplasia (summary by Suresh et al., 2011).;

Inheritance : Autosomal dominant;

Prefixed ID : %167730;

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03/05/2025


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