Phenotype #0000349748

Individual ID 00462248
Associated disease BPS
Phenotype details see paper; ..., 17w-aborted fetus (facial cleft, omphalocele, fetal immobility, arthrogryposis); facial appearance Bartsocas-Papas syndrome (no eyelids, bilateral labio-maxillo palatal cleft, nasal hypoplasia, small ears attached to scalp), small omphalocele, multiple pterygia upper/lower limbs, syndactyly hands/feet, club feet, anal atresia, absence external genitalia male fetus
Diagnosis/Initial Bartsocas-Papas syndrome
Inheritance Familial, autosomal recessive
Diagnosis/Definite BPS1
Age/Examination <00y00m00d (before )
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2025-02-06 16:13:22 +01:00 (CET)
Date last edited N/A

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