Global Variome shared LOVD

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Phenotype #0000349746 Individual ID 00462246 Associated disease BPS Phenotype details see paper; ..., orofacial clefting; pterygia; ankyloblepharon; oral synechia; genital hypoplasia; sparse hair; lip pits; bilateral cleft lip/palate, lower lip pits, bands between jaws, bilateral club feet, popliteal pterygia, no eyelashes, no eyebrows, sparse scalp hair, brittle nails, absent/small toenails, III-IV-V syndactyly right foot, triangular overgrowth skin over nail first right toe Diagnosis/Initial Bartsocas-Papas syndrome Inheritance Familial, autosomal recessive Diagnosis/Definite BPS1 Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2025-02-06 16:00:06 +01:00 (CET) Date last edited N/A

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