Phenotype #0000003017
Individual ID |
00004221 |
Associated disease |
FDH |
Phenotype details |
bilateral microphthalmia; dense intra-ocular tissue; large thoraco-lumbar spina bifida; hydronephrosis of left kidney; hypospadias; disarrayed toes; deceased day 10 due to respiratory insufficiency. |
Diagnosis/Initial |
- |
Inheritance |
Familial, X-linked dominant |
Diagnosis/Definite |
- |
Age/Examination |
00y00m () |
Age/Diagnosis |
- |
Age/Onset |
- |
Phenotype/Onset |
- |
Protein |
- |
Owner name |
Paul Brady |
Database submission license |
No license selected |
Created by |
Paul Brady |
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