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Results: 1 to 13 of 13

Make selection to find tests for any of the checked conditions.[x]
ConditionsSynonyms
Mucolipidosis type II
  • I cell disease
  • Inclusion cell disease
  • Leroy Disease
  • ML 2
  • ML II ALPHA/BETA
  • ML disorder type 2
  • Mucolipidosis 2
  • N-acetylglucosamine 1phosphotransferase deficiency
Deficiency of guanidinoacetate methyltransferase
  • CEREBRAL CREATINE DEFICIENCY SYNDROME 2
  • Guanidinoacetate Methyltransferase Deficiency
Tumoral calcinosis, hyperphosphatemic, familial, 1
  • CALCINOSIS, TUMORAL, WITH HYPERPHOSPHATEMIA
  • Cortical hyperostosis with hyperphosphatemia
  • FGF23-Related Familial Hyperphosphatemic Tumoral Calcinosis
  • Hyperostosis with hyperphosphatemia
  • Hyperostosis-hyperphosphatemia syndrome
  • LIPOCALCINOGRANULOMATOSIS
  • MORBUS TEUTSCHLAENDER
  • TEUTSCHLAENDER DISEASE, FAMILIAL
  • TUMORAL CALCINOSIS, PRIMARY HYPERPHOSPHATEMIC
BLOOD GROUP, MN
Autosomal recessive limb-girdle muscular dystrophy type 2O
  • Limb-Girdle Muscular Dystrophy Type 2O
  • Limb-Girdle Muscular Dystrophy Type 3C
  • Limb-girdle muscular dystrophy-dystroglycanopathy, type C3
  • MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 3
  • MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, POMGNT1-RELATED
MGAT2-congenital disorder of glycosylation
  • Alkuraya syndrome
  • CDG 2A
  • CDG IIa
  • Congenital disorder of glycosylation type 2A
  • Congenital disorder of glycosylation, type IIa
  • MENTAL RETARDATION, GROWTH RETARDATION, PROMINENT COLUMELLA, AND OPEN MOUTH
  • MGAT2-CDG
  • MGAT2-CDG (CDG-IIa)
Alpha-N-acetylgalactosaminidase deficiency type 2
  • ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY, TYPE II
  • Alpha-N-acetylgalactosaminidase deficiency adult onset
  • Kanzaki disease
  • NAGA DEFICIENCY, TYPE II
  • NAGA deficiency type 2
  • SCHINDLER DISEASE, TYPE II
  • Schindler disease type 2
CCDC115-CDG
  • CDG IIo
  • CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIo
Congenital disorder of glycosylation, type IIz
  • CDG IIz
Polymerase proofreading-related adenomatous polyposis
Charcot-Marie-Tooth disease axonal type 2V
  • CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2V
  • CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2V
GM2 gangliosidosis
Qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
  • Qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase -

Results: 1 to 13 of 13

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