Disease #03383

Official abbreviation CDG-1P
Name glycosylation, congenital disorder of, type IP (CDG-1P)
OMIM ID 613661
Human Phenotype Ontology Project (HPO) HPO
Individuals reported having this disease 4
Phenotype entries for this disease 4
Associated with 1 gene ALG11
Associated tissues -
Disease features -
Remarks -


Individuals

4 entries on 1 page. Showing entries 1 - 4.
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00117866 - PubMed: Rind 2010 - F - - - - 0 - - CDG-1P unremarkable prenatal and neonatal period, fat pads, hypotonia, deafness, oscillation of body temperature, developmental delay, mental retardation, epilepsy, strabismus convergens ALG11 ALG11 1 1 Christian Thiel
00117867 - submitted - F - - - - 0 - - CDG-1P unremarkable prenatal and neonatal period, hypotonia, hypertonia, developmental delay, mental retardation, epilepsy, strabismus convergens ALG11 ALG11 2 1 Christian Thiel
00117868 - submitted - M - - - - 0 - - CDG-1P unremarkable prenatal and neonatal period, developmental delay, mental retardation, epilepsy, strabismus convergens ALG11 ALG11 1 1 Christian Thiel
00117869 - submitted - F - - - - 0 - - CDG-1P unremarkable prenatal and neonatal period, fat pads, hypotonia, hypertonia, oscillation of body temperature, developmental delay, mental retardation, epilepsy, strabismus convergens ALG11 ALG11 2 1 Christian Thiel
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