Phenotype #0000353623

Individual ID 00468471
Associated disease CTRCT
Phenotype details cortical/nuclear cataract; no symmetrical opacities; scoliosis, malar flattening, sparse eyelashes, eyebrow and hair, ichthyosis, short stature, limb undergrowth, talipes, asymmetric growth
Diagnosis/Initial bilateral cataract
Inheritance Familial, X-linked dominant
Diagnosis/Definite CDPX2
Age/Examination -
Age/Diagnosis -
Age/Onset 0y
Phenotype/Onset -
Protein -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2025-11-09 20:53:28 +01:00 (CET)
Date last edited N/A

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