Phenotype #0000016881

Individual ID 00018528
Associated disease GTPTS
Inheritance Unknown
Diagnosis/Initial -
Age/Examination -
Diagnosis/Definite -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Phenotype details Clitoral hypertrophy; Hypoplastic labia minora; Absent patellae; Hypoplastic patellae; Flexion contractures of the hips; Flexion contractures of the knees; Club foot; Aplasia of corpus callosum; Severe intellectual disability; Delayed motor milestones; Microcephaly; Coarse face; Broad/bulbous nose; Micrognathia; Hydronephrosis; Congenital heart defects (ASD, VSD, PDA);
Protein -
Owner name Philippe Campeau
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Philippe Campeau
Date created 2012-01-22 18:52:57 +01:00 (CET)
Date last edited 2012-02-12 12:43:41 +01:00 (CET)

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