Disease #02445

Official abbreviation CDG-1C
Name glycosylation, congenital disorder of, type IC (CDG-1C)
OMIM ID 603147
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 11
Phenotype entries for this disease 3
Associated with 1 gene ALG6
Associated tissues -
Disease features -
Remarks -


Individuals

11 entries on 1 page. Showing entries 1 - 11.
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00034457 - - - M no Netherlands Caucasian - 0 - none CDG-1C Axial hypotonia, limited exercise tolerance, psychomotor developmental delay, inverted nipples , disturbed coagulation pathway ALG6 ALG6 1 1 Anke Rietveld
00034462 - - - M no Netherlands caucasian - 0 - none CDG-1C Hypotonia, fluctuating weakness, severe intellectual diability ALG6 - 0 1 Anke Rietveld
00249648 - - - ? - ? (unknown) - - 0 - - CDG-1C - ALG6 ALG6 2 1 Gert Matthijs
00249649 - - - ? - Ireland - - 0 - - CDG-1C growth retardation, hypotonia, cataracts, enlarged spleen, poor feeding, no cerebellar hypoplasia, normal liver function test ALG6 ALG6 2 1 Gert Matthijs
00249650 - - - ? - South Africa - - 0 - - CDG-1C - ALG6 ALG6 2 1 Gert Matthijs
00249651 - - - ? - Netherlands - - 0 - - CDG-1C - ALG6 ALG6 1 1 Gert Matthijs
00249652 - - - ? - Netherlands - - 0 - - CDG-1C - ALG6 ALG6 1 1 Gert Matthijs
00249653 - - - ? - Netherlands - - 0 - - CDG-1C - ALG6 ALG6 1 1 Gert Matthijs
00249654 - - - ? - Netherlands - - 0 - - CDG-1C - ALG6 ALG6 1 1 Gert Matthijs
00249655 - - - ? - Netherlands - - 0 - - CDG-1C - ALG6 ALG6 1 1 Gert Matthijs
00249656 - - - ? - Italy - - 0 - - CDG-1C - ALG6 ALG6 1 1 Gert Matthijs
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