Phenotype #0000228849

Individual ID	00301765
Associated disease	lipodystrophy
Diagnosis/Initial	lipodystrophy
Diagnosis/Definite	-
Phenotype details	see paper; ..., early onset intellectual disability; childhood development of near-generalised loss of subcutaneous fat with diabetes mellitus, extreme hypertriglyceridemia, hepatic steatosis, short stature, clinodactyly, joint contractures, leiomyoma of uterus, cataracts; lipodystrophy more pronounced in upper and lower extremities, no associated muscular hypertrophy
Inheritance	Familial, autosomal recessive
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2020-05-23 16:04:14 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD