Phenotype #0000355178

Individual ID 00470033
Associated disease SPG
Phenotype details see paper; ..., syndromic; bilateral total cataract; microphthalmia, microcornea, bilateral hypoplasia optic nerve, pptic nerve coloboma (right); microcephaly, micrognathia, facial dysmorphisms, generalised hypotonia, mild finger clinodactyly, intellectual disability/developmental delay
Diagnosis/Initial bilateral total cataract
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination 8y11m (8 years, 11 months)
Age/Diagnosis -
Age/Onset 1d
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 2025-11-25 19:19:02 +01:00 (CET)
Date last edited N/A

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