Phenotype #0000337235

Individual ID 00448046
Associated disease ?
Diagnosis/Initial breast/ovarian cancer
Diagnosis/Definite FANCS
Phenotype details small for gestational age, birth term, weight 16kg; postnatal height <3-ile; intellectual disability (IQ50–69); microcephaly; microphthalmia; skin hypopigmented, generalized hyperpigmented, Café-au-lait spots; hypoplastic thumb (Blauth 2); no dysmorphic features; right undescended testis; adrenal insufficiency; normal complete blood count/HbF; MRI brain gliosis, periventricular and subcortical; family uterine, esophageal, and lung cancer, 2nd and 3rd degree relatives
Inheritance Familial, autosomal dominant
Age/Examination 15y6m (15 years, 6 months)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Tumor/MSI -
Diagnosis/Criteria -
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 2024-02-10 22:33:15 +01:00 (CET)
Date last edited N/A

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