Phenotype #0000127797

Individual ID 00155294
Associated disease RPSKA
Diagnosis/Initial retinitis pigmentosa
Diagnosis/Definite RPSKA
Phenotype details cranio-facial defects (HP:0000234), brachydactyly (HP:0001156), short stature (HP:0004322), intellectual disability (HP:0001249), feeding difficulty, severe psychomotor retardation, alopecia, absent eyebrows and eyelashes, ichthyosis, multiple kidney cysts, ERG flat, altered visual evoked potential response
Inheritance Familial, autosomal recessive
Age/Examination 17y (17 years)
Age/Diagnosis -
Age/Onset <00y00m00d
Phenotype/Onset kidney cysts
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 2018-03-21 18:46:42 +01:00 (CET)
Date last edited 2018-03-21 18:54:54 +01:00 (CET)

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