Phenotype #0000307001

Individual ID	00415203
Associated disease	?
Diagnosis/Initial	severe pancytopenia, mucocutaneous skin features
Diagnosis/Definite	-
Phenotype details	abnormal skin pigmentation; no nail dystrophy, no leucoplakia; no hair loss; no thin eye lashes; pancytopenia, hypocellular bone marrow with dyserythropoiesis; no immune defects; no learning difficulties; no developemental delay; no microcephaly; insulin dependent diabetes mellitus on oxymetholone therapy at 10y progressed to myelodysplasia with monosomy 7
Inheritance	Familial, autosomal recessive
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Tumor/MSI	-
Diagnosis/Criteria	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2022-08-10 11:01:53 +02:00 (CEST)
Date last edited	2022-08-10 11:08:02 +02:00 (CEST)

Global Variome shared LOVD