Phenotype #0000337238

Individual ID	00448049
Associated disease	FANC
Diagnosis/Initial	Fanconi anemia
Diagnosis/Definite	FANCS
Phenotype details	see paper; ..., childhood hearing loss (right side), celiac disease, congenital left hip dislocation, short height (150 cm, <5%ile), microcephaly (OFC 52cm, <5%ile), triangular face, low placed ears, skin hyperpigmentation, café au lait macules; 30y-invasive‐ductal carcinoma left breast; family with additional cancer cases
Inheritance	Familial, autosomal dominant
Age/Examination	30y (30 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2024-02-11 14:27:08 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD