Phenotype #0000325417

Individual ID	00435156
Associated disease	GD
Diagnosis/Initial	pediatric Gaucher disease
Diagnosis/Definite	GD
Phenotype details	massive splenomegaly, hepatic Gaucheroma; persistent abdominal distension during the previous 18 months; blood exams show anemia, thrombocytopenia, adequate hepato-renal function, normal hemoglobin chain analysis; physical examination, significant abdominal distension underlying massive splenomegaly (the splenic pole reached the low hypogastric region) and hepatomegaly was noted without any other significant symptom: general clinical conditions and neurological examination were in order; development and growth also appeared adequate
Inheritance	Familial, autosomal recessive
Age/Examination	02y08m (2 years, 8 months)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Jimena Urbano
Database submission license
Created by	Johan den Dunnen
Date created	2023-06-13 22:28:46 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD