Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000016894 Individual ID 00018541 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; Thoracolumbar kyphosis/scoliosis; Microcephaly; Developmental delay or intellectual disability; Absent or thin corpus callosum; Colpocephaly/ventriculomegaly; Subdural hemorrhage; Hypoplastic labia minora/majora; Clitoromegaly; Hydronephrosis; Facial dysmorphisms; Feeding difficulties; Hypothyroidism; 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 18:07:20 +01:00 (CET) Date last edited 2012-02-12 12:48:01 +01:00 (CET)

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