Phenotype #0000337218

Individual ID 00448029
Associated disease FANC
Diagnosis/Initial ovarian carcinoma
Diagnosis/Definite FANCS
Phenotype details see paper; ..., 28y-stage IV papillary serous ovarian carcinoma; short stature (−2.1 SD adult); developmental delay; microcephaly; macrognathia; normal eyes; normal ears; low anterior hairline, prominent nasal bridge, small alae nasi; skin normal pigmentation; intellectual disability; no bone marrow failure; hyper-sensitivity to carboplatin and paclitaxel (severe neutropenia, anaemia, and thrombopenia); family breast, ovarian, peritoneal and intestinal cancer in 1st-4th degree relatives
Inheritance Familial, autosomal dominant
Age/Examination 29y (29 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
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 17:24:50 +01:00 (CET)
Date last edited 2024-02-10 18:11:56 +01:00 (CET)

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