Global Variome shared LOVD

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Phenotype #0000016880 Individual ID 00018527 Associated disease GTPTS Inheritance Unknown Diagnosis/Initial - Age/Examination - Diagnosis/Definite - Age/Diagnosis - Age/Onset - Phenotype/Onset - Phenotype details Absent or hypoplastic patellae; Flexion deformities; Club feet; Pelvic anomalies; Radioulnar synostosis; Rib anomalies; Microcephaly; Developmental delay or intellectual disability; Absent or thin corpus callosum; Colpocephaly/ventriculomegaly; Hearing loss; Anteriorly positioned anus; Hypoplastic labia minora/majora; Clitoromegaly; Hydronephrosis; Atrial septal defect; Tortuous ascending aorta; Facial dysmorphisms; Broad nasal bridge; Resp distress/apnea; Protein - Owner name Philippe Campeau Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Philippe Campeau Date created 2012-01-22 17:52:43 +01:00 (CET) Date last edited 2012-02-12 12:39:35 +01:00 (CET)

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