Phenotype #0000025746

Individual ID 00029782
Associated disease AOS
Phenotype details IUGR; scalp defect; TTLD of hands and feet; ventricular dilatation / brain atrophy; corpus callosum hypoplasia/atrophy; periventricular lesions (calcification, gliosis); microcephaly; microphthalmia; retinal detachment; moderate ID; seizures / epilepsy; cryptorchidism;
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination 09y00m (9 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 18:36:32 +01:00 (CET)
Date last edited 2015-02-07 16:02:48 +01:00 (CET)

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