Global Variome shared LOVD

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Phenotype #0000016887 Individual ID 00018534 Associated disease GTPTS Inheritance Unknown Diagnosis/Initial - Age/Examination - Diagnosis/Definite - Age/Diagnosis - Age/Onset - Phenotype/Onset - Phenotype details Oligohydramnios noted at 6 mo. Gestation; B wt 3.2 kg, term; Seizures from neonatal period; Failure to thrive; Global developmental delay; Microcephaly; Facial dysmorphism; Sparse hair- scalp, eye brow; Deficient abdominal wall muscles; Rudimentary scrotum, absent testes; Flexion contracure both hip and knee; Absent patellae both sides; CTEV on right side; Small patent ductus arteriosus; USG- Right PUJ obstruction with hydronephrosis, testes not imaged in inguinal canal or pelvis; EEG- bilateral epileptiform discharges; MRI- complete absence of corpus callosum; Left femoral head dislocated; MCU- dilatation of prostatic urethra, no VUR Protein - Owner name Philippe Campeau Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Philippe Campeau Date created 2012-11-27 05:02:04 +01:00 (CET) Date last edited N/A

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