Global Variome shared LOVD

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Phenotype #0000016892 Individual ID 00018539 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; Brachydactyly; Short stature; Rib anomalies; Microcephaly; Developmental delay or intellectual disability; Absent or thin corpus callosum; Optic atrophy/cortical visual impairment; Anteriorly positioned anus; Hypoplastic labia minora/majora; Underdeveloped clitoris; Hydronephrosis; Multicystic kidneys; Hypoplastic kidneys; Atrial septal defect; Facial dysmorphisms; Prominent nasal bridge; Teeth anomalies; sparse hair; Tracheo/laryngomalacia; Feeding difficulties; Small bowel malrotation 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 18:01:30 +01:00 (CET) Date last edited 2012-02-12 12:51:44 +01:00 (CET)

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