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