Global Variome shared LOVD

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Phenotype #0000016893 Individual ID 00018540 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; Pelvic anomalies; ; Rib anomalies; Joint laxity; Microcephaly; Developmental delay or intellectual disability; Absent or thin corpus callosum; Colpocephaly/ventriculomegaly; Isolated seizure; Optic atrophy/cortical visual impairment; Anal atresia/stenosis; Scrotal hypoplasia; Hydronephrosis; Atrial septal defect; Ventricular septal defect; Facial dysmorphisms; Prominent nasal bridge; Retrognatia/micrognatia; full cheeks; ear anomalies; Teeth anomalies; sparse hair; Single palmar crease; Feeding difficulties; Skin laxity/redundance; 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 18:06:26 +01:00 (CET) Date last edited 2012-02-12 12:44:32 +01:00 (CET)

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