Phenotype #0000025741

Individual ID 00029777
Associated disease AOS
Phenotype details IUGR; scalp defect; TTLD of hands and feet; tetralogy of Fallot; persistent left superior vena cava; periventricular lesions (calcification, gliosis); porencephaly; microcephaly; retinal detachment; severe ID; seizures / epilepsy; placental vasculopathy; neonatal thrombocytopenia; small bowel infarction;
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination 02y00m (2 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Maja Sukalo
Database submission license No license selected
Created by Maja Sukalo
Date created 2015-01-28 17:38:35 +01:00 (CET)
Date last edited 2015-02-07 16:02:48 +01:00 (CET)

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