Phenotype #0000000576

Individual ID	00001144
Associated disease	GA1
Inheritance	Familial, autosomal recessive
Age/Onset	-
Diagnosis/Initial	-
Age/Examination	01y05m (1 year, 5 months)
Diagnosis/Definite	-
Age/Diagnosis	-
Phenotype/Onset	-
Phenotype details	Disease course: At age 01y: begun to crawl and pull himself to stand (standing only with support), only one spoken syllable (receptive language development thought to be normal); At age 01y05m: moderate hypotonia, head circumference 40th percentile, deep tendon reflexes 3+ at quadriceps, blond hair, blue eyes, fair complexion; At age 01y09m: walked the first time (frequent falls), neurological examination otherwise normal; At age 03y03m: good muscle strength for short bursts of activity but no endurance, still frequent falls but able to walk and run, slow speech development (but spoke English and Spanish)
Protein	-
Biochem	3-OH-GA (urine): 53 mmol/mol creatinine (c: 0-6); GA (urine): 12 mmol/mol creatinine (c: 0-5)
Enzyme/Activity	GCDH activity (fibroblasts): 2% of controls
Owner name	Katrin Hinderhofer
Database submission license
Created by	Julia Lopez
Date created	2013-04-17 17:21:21 +02:00 (CEST)
Date last edited	2019-04-08 10:23:03 +02:00 (CEST)

Global Variome shared LOVD