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ALG12-congenital disorder of glycosylation

disorder
SNOMED 711155008CUI C2931001

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Abnormal circulating enzyme concentration or activity
Always present (100%)HP:0012379
Antithrombin III deficiency
Always present (100%)HP:0001976
Convergent squint
Always present (100%)HP:0020045
Decreased circulating total IgM
Always present (100%)HP:0002850
Decreased serum IgG
Always present (100%)HP:0004315
Inactivity
Always present (100%)HP:0001254
Inverted triangular face
Always present (100%)HP:0000325
Laboured breathing
Always present (100%)HP:0002098
Low blood calcium levels
Always present (100%)HP:0002901
Low blood sugar
Always present (100%)HP:0001943
Low levels of immunoglobulin A
Always present (100%)HP:0002720
Mental and motor retardation
Always present (100%)HP:0001263
Poor sucking
Always present (100%)HP:0002033
Recurrent URI
Always present (100%)HP:0002788
Type I transferrin isoform profile
Always present (100%)HP:0003642
Abnormality of the coagulation cascade
Very frequent (80-99%)HP:0003256
Genitourinary dysplasia
Very frequent (80-99%)HP:0000119
Abnormal circulating IgG concentration
Frequent (30-79%)HP:0410242
Abnormal peripheral nervous system morphology
Frequent (30-79%)HP:0000759
B cell lymphopenia
Frequent (30-79%)HP:0010976
Central hypotonia
Frequent (30-79%)HP:0001252
Chronic rhinitis
Frequent (30-79%)HP:0002257
Delayed gross motor development
Frequent (30-79%)HP:0002194
Factor XI deficiency
Frequent (30-79%)HP:0001929
Feeding difficulties
Frequent (30-79%)HP:0011968
Low factor II activity
Frequent (30-79%)HP:0008151
Mental-retardation
Frequent (30-79%)HP:0001249
Microcephaly, progressive
Frequent (30-79%)HP:0000253
Morphological abnormality of the CNS
Frequent (30-79%)HP:0002011
Prolonged activated partial thromboplastin time
Frequent (30-79%)HP:0003645

Related Conditions

Carbohydrate-deficient glycoprotein syndrome type I(parent)
Recessive hereditary disorder (autosomal)(parent)

Quick Facts

SNOMED CT
711155008
UMLS CUI
C2931001
Fully Specified Name
ALG12-congenital disorder of glycosylation (disorder)
Specialists
0
Diagnostic Biomarkers
0
HPO Phenotypes
30
Medical Disclaimer

This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.

Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.