Phenotype #0000016883

Individual ID 00018530
Associated disease GTPTS
Inheritance Unknown
Diagnosis/Initial -
Age/Examination -
Diagnosis/Definite -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Phenotype details Scrotal hypoplasia; Cryptorchidism; Absent patellae; 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 defect (ASD)
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 18:54:33 +01:00 (CET)
Date last edited 2012-02-12 12:46:58 +01:00 (CET)

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.