Global Variome shared LOVD

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Phenotype #0000349740 Individual ID 00462239 Associated disease BPS Phenotype details see paper; ..., pregnancy multiple congenital abnormalities; 1w preterm fetal bradycardia; birth weight 2.95kg, OFC 34cm; alopecia totalis, sparse scalp hair, partial ankyloblepharon, oral synechia partial occlusion oral cavity, hypertelorism, cloudy corneas, absent thumbs, finger oligosyndactyly, hypoplastic genitalia, extensive popliteal pterygia, toe oligosyndactyly, multiple skin tags, unusual fibrous tethers between feet/suprapubic region Diagnosis/Initial multiple congenital abnormalities Inheritance Familial, autosomal recessive Diagnosis/Definite BPS 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 14:38:32 +01:00 (CET) Date last edited N/A

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