Phenotype #0000001840

Individual ID	00002971
Associated disease	CGL2
Phenotype details	walk 13m; 24m-psychomotor delay; max. language acquisition few words, hyperactive/irritable, spasticity, ataxic gait, sleep disturbances, lipodystrophy, muscular hypertrophy, no acanthosis nigricans, hypertrichosis, no diabetis mellitus, no cardiomyopathy, no hyper-triglyceridemia, no hepatomegaly; 2.5y-seizures; 4y-neurological involution; 7y-died of respiratory infection; lipodystrophy (HP:0009125)
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Onset	2y
Age/Examination	-
Age/Diagnosis	-
Protein	-
Phenotype/Onset	abnormal communication skills, language delay, hyperactivity
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2013-05-14 22:26:58 +02:00 (CEST)
Date last edited	2017-09-01 09:32:48 +02:00 (CEST)

Global Variome shared LOVD