Phenotypes for disease #01823 (GSD3 (storage disease, glycogen, type III (GSD-3)), OMIM:232400)

9 entries on 1 page. Showing entries 1 - 9.
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AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     

Individual ID     
0000073593 weakness : distal and proximal, upper and lower limbs perdominaltly distal upper limbs severe axial and mild neck weakness, foot drop achilles contracture, atrophy in deltoid, supraspinatus and intrinsic hand muscles - - Familial, autosomal recessive - 48y 24y - - François Petit 00095189
0000073596 weakness: distal and proximal, upper and lower limbs predominantly distal upper limbs thoracis scoliosis - - Familial, autosomal recessive 26y - 21y - - François Petit 00095197
0000073599 weakness: distal and proximal upper limbs and proximal lower limbs atrophy in thenar and hypothenar cardiac involvement since 15y/o - - Familial, autosomal recessive 15y - 15y - - François Petit 00095199
0000073601 weakness: distal and proximal upper limbs and proximal lower limbs cardiac involvement since 39 y/o cirrhosis at 36 y/o - - Familial, autosomal recessive 40y - 37y - - François Petit 00095202
0000073603 weakness: distal and proximal upper limbs and proximal lower limbs atrophy in first dorsal interosseus hepatomegaly and hypoglycemia - - Familial, autosomal recessive 51y - 46y - - François Petit 00095204
0000152861 severe - - - - - - - - LOVD 00204569
0000152862 severe - - - - - - - - LOVD 00204570
0000172717 hepatomegaly, short stature, and muscle weakness. She had experienced episodes of hypoglycaemia. - - - 00y18m 00y18m - - - Wenjuan Qiu 00228778
0000219684 Hepatomegaly (HP:0002240);short stature (HP:0004322); Jaundice (HP:0000952) Full cheeks (HP:0000293); Growth delay (HP:0001510) Lethargy (HP:0001254); Muscular hypotonia (HP:0001252); Hypertriglyceridemia (HP:0002155), Hypoglycemia (HP:0001943); Elevated hepatic transaminase (HP:0002910); Elevated serum creatine kinase (HP:0003236); GSDIII GSDIII Familial, autosomal recessive 04y 04y 00y09m - - Shama Perveen 00281793
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