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