Congenital Disorder of Glycosylation, Type Ii
CDG1I

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Prevalence (%) of clinical parameters based on data from 1 references describing 3 individuals



100
Anemia
100
Hypotonia
100
Iron deficiency
100
Mental retardation
100
Microcephaly
100
Seizures
100
Speech delay
67
Corpus callosum thining
67
Developmental delay
67
Hearing impairment
67
Hypermobile joints
67
Recurrent infections
67
non-walking
33
Broad nasal bridge
33
Cerebellar atrophy
33
Diarrhea
33
High arched palate
33
Hypsarrhythmia
33
Inverted nipples
33
Low set ears
33
Psychomotor retardation
33
Ventricular enlargement brain




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 Pubmed id number as a reference Organ system affected
Number of patients in the reference Percent affected patients (Between 0 and 1, eg. 0.1 = 10%)
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List of symptoms



Symptom/sign Organ system Percent affected Pubmed id Added on(yyyy-mm-dd) Edit/add reference
Mental retardation nervous 100 % 33644825 2024-05-09
Anemia circulatory 100 % 33644825 2024-05-09
Seizures nervous 100 % 33644825 2024-05-09
Hypotonia nervous 100 % 33644825 2024-05-09
Microcephaly nervous 100 % 33644825 2024-05-09
Iron deficiency circulatory 100 % 33644825 2024-05-09
Speech delay nervous 100 % 33644825 2024-05-09
non-walking multi 67 % 33644825 2024-05-09
Hearing impairment nervous 67 % 33644825 2024-05-09
Hypermobile joints skeletal 67 % 33644825 2024-05-09
Recurrent infections lymphatic 67 % 33644825 2024-05-09
Corpus callosum thining nervous 67 % 33644825 2024-05-09
Developmental delay nervous 67 % 33644825 2024-05-09
Psychomotor retardation nervous 33 % 33644825 2024-05-09
Hypsarrhythmia nervous 33 % 33644825 2024-05-09
Inverted nipples integumentary 33 % 33644825 2024-05-09
High arched palate skeletal 33 % 33644825 2024-05-09
Ventricular enlargement brain nervous 33 % 33644825 2024-05-09
Cerebellar atrophy nervous 33 % 33644825 2024-05-09
Low set ears integumentary 33 % 33644825 2024-05-09
Broad nasal bridge skeletal 33 % 33644825 2024-05-09
Diarrhea digestive 33 % 33644825 2024-05-09



List of references:


Mass spectrometry glycophenotype characterization of ALG2-CDG in Argentinean patients with a new genetic variant in homozygosis.
Gabriela Magali Papazoglu, Marisa Cubilla, Marcela Pereyra, Raquel Dodelson de Kremer, Belén Pérez, Luisa Sturiale, Carla Gabriela Asteggiano,



Glycoconjugate journal - Apr 2021