Global Variome shared LOVD

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Phenotype #0000144018 Individual ID 00183270 Associated disease ACG Diagnosis/Initial - Diagnosis/Definite ACG-2 Phenotype details admitted to neonatal intensive care unit due to severe tachypnea, dyspnea, subcostal retraction; physical examination showed body length 38cm (<3 percentile), body weight 2755gm (3-15 percentile), head circumference 36 cm (85-97 percentile), arm span 36 cm, pseudo low-set ears, mid-facial hypoplasia, anteverted nostrils, cleft palate, micrognathia, short neck, narrow chest cavity with bulging anterior chest, prominent abdomen, bilateral simian crease, clinodactyly of bilateral 5th fingers, bilateral clubfoot; radiographs revealed short ribs, short and broad long bones, lack of ossification pine and pelvis Inheritance Isolated (sporadic) Age/Examination 00y00m01d (1 day) 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 2018-10-22 14:00:25 +02:00 (CEST) Date last edited N/A

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