ALG9 congenital disorder of glycosylation
- Synonyms
- ALG9-CDG; ALG9-CDG (CDG-IL); CDG 1L; CDG Il; CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Il
- Modes of inheritance
- Autosomal recessive inheritance (Orphanet)
Summary
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (39 available)
Clinical features
Help- Abnormality of blood and blood-forming tissues
- Hereditary antithrombin deficiency
Hereditary antithrombin deficiency
- MedGen UID: 75781
- Concept ID: C0272375
- Finding: Disease or Syndrome
Abnormality of blood and blood-forming tissues
- Reduced factor XI activity
Reduced factor XI activity
- MedGen UID: 1368629
- Concept ID: C4317093
- Finding: Finding
Abnormality of blood and blood-forming tissues
- Hereditary antithrombin deficiency
- Abnormality of head or neck
- Abnormal facial shape
Abnormal facial shape
- MedGen UID: 98409
- Concept ID: C0424503
- Finding: Finding
Abnormality of head or neck
- Depressed nasal bridge
Depressed nasal bridge
- MedGen UID: 373112
- Concept ID: C1836542
- Finding: Finding
Abnormality of head or neck
- Long philtrum
Long philtrum
- MedGen UID: 351278
- Concept ID: C1865014
- Finding: Finding
Abnormality of head or neck
- Short neck
Short neck
- MedGen UID: 99267
- Concept ID: C0521525
- Finding: Finding
Abnormality of head or neck
- Short nose
Short nose
- MedGen UID: 343052
- Concept ID: C1854114
- Finding: Finding
Abnormality of head or neck
- Wide mouth
Wide mouth
- MedGen UID: 44238
- Concept ID: C0024433
- Finding: Congenital Abnormality
Abnormality of head or neck
- Abnormal facial shape
- Abnormality of metabolism/homeostasis
- Hypoalbuminemia
Hypoalbuminemia
- MedGen UID: 68694
- Concept ID: C0239981
- Finding: Finding
Abnormality of metabolism/homeostasis
- Hypocholesterolemia
Hypocholesterolemia
- MedGen UID: 57479
- Concept ID: C0151718
- Finding: Disease or Syndrome
Abnormality of metabolism/homeostasis
- Type I transferrin isoform profile
Type I transferrin isoform profile
- MedGen UID: 324900
- Concept ID: C1837899
- Finding: Finding
Abnormality of metabolism/homeostasis
- Hypoalbuminemia
- Abnormality of prenatal development or birth
- Decreased fetal movement
Decreased fetal movement
- MedGen UID: 68618
- Concept ID: C0235659
- Finding: Finding
Abnormality of prenatal development or birth
- Fetal skin edema
Fetal skin edema
- MedGen UID: 1814189
- Concept ID: C5676611
- Finding: Pathologic Function
Abnormality of prenatal development or birth
- Hydrops fetalis
Hydrops fetalis
- MedGen UID: 6947
- Concept ID: C0020305
- Finding: Disease or Syndrome
Abnormality of prenatal development or birth
- Decreased fetal movement
- Abnormality of the breast
- Inversion of nipple
Inversion of nipple
- MedGen UID: 82844
- Concept ID: C0269269
- Finding: Anatomical Abnormality
Abnormality of the breast
- Wide intermamillary distance
Wide intermamillary distance
- MedGen UID: 473489
- Concept ID: C1827524
- Finding: Finding
Abnormality of the breast
- Inversion of nipple
- Abnormality of the cardiovascular system
- Atrial septal defect
Atrial septal defect
- MedGen UID: 6753
- Concept ID: C0018817
- Finding: Congenital Abnormality
Abnormality of the cardiovascular system
- Pericardial effusion
Pericardial effusion
- MedGen UID: 10653
- Concept ID: C0031039
- Finding: Disease or Syndrome
Abnormality of the cardiovascular system
- Atrial septal defect
- Abnormality of the digestive system
- Ascites
Ascites
- MedGen UID: 416
- Concept ID: C0003962
- Finding: Disease or Syndrome
Abnormality of the digestive system
- Hepatomegaly
Hepatomegaly
- MedGen UID: 42428
- Concept ID: C0019209
- Finding: Finding
Abnormality of the digestive system
- Villous atrophy
Villous atrophy
- MedGen UID: 154306
- Concept ID: C0554101
- Finding: Finding
Abnormality of the digestive system
- Ascites
- Abnormality of the eye
- Esotropia
Esotropia
- MedGen UID: 4550
- Concept ID: C0014877
- Finding: Disease or Syndrome
Abnormality of the eye
- Hypertelorism
Hypertelorism
- MedGen UID: 9373
- Concept ID: C0020534
- Finding: Finding
Abnormality of the eye
- Esotropia
- Abnormality of the genitourinary system
- Polycystic kidney disease
Polycystic kidney disease
- MedGen UID: 9639
- Concept ID: C0022680
- Finding: Disease or Syndrome
Abnormality of the genitourinary system
- Polycystic kidney disease
- Abnormality of the immune system
- Asthma
Asthma
- MedGen UID: 2109
- Concept ID: C0004096
- Finding: Disease or Syndrome
Abnormality of the immune system
- Splenomegaly
Splenomegaly
- MedGen UID: 52469
- Concept ID: C0038002
- Finding: Finding
Abnormality of the immune system
- Asthma
- Abnormality of the musculoskeletal system
- Brachycephaly
Brachycephaly
- MedGen UID: 113165
- Concept ID: C0221356
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Delayed skeletal maturation
Delayed skeletal maturation
- MedGen UID: 108148
- Concept ID: C0541764
- Finding: Finding
Abnormality of the musculoskeletal system
- Frontal bossing
Frontal bossing
- MedGen UID: 67453
- Concept ID: C0221354
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Hip dislocation
Hip dislocation
- MedGen UID: 42455
- Concept ID: C0019554
- Finding: Injury or Poisoning
Abnormality of the musculoskeletal system
- Hypotonia
Hypotonia
- MedGen UID: 10133
- Concept ID: C0026827
- Finding: Finding
Abnormality of the musculoskeletal system
- Kyphosis
Kyphosis
- MedGen UID: 44042
- Concept ID: C0022821
- Finding: Anatomical Abnormality
Abnormality of the musculoskeletal system
- Lipodystrophy
Lipodystrophy
- MedGen UID: 6111
- Concept ID: C0023787
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Microcephaly
Microcephaly
- MedGen UID: 1644158
- Concept ID: C4551563
- Finding: Finding
Abnormality of the musculoskeletal system
- Skeletal dysplasia
Skeletal dysplasia
- MedGen UID: 98053
- Concept ID: C0410528
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Brachycephaly
- Abnormality of the nervous system
- Cerebellar atrophy
Cerebellar atrophy
- MedGen UID: 196624
- Concept ID: C0740279
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Cerebral atrophy
Cerebral atrophy
- MedGen UID: 116012
- Concept ID: C0235946
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Delayed CNS myelination
Delayed CNS myelination
- MedGen UID: 867393
- Concept ID: C4021758
- Finding: Anatomical Abnormality
Abnormality of the nervous system
- Epileptic encephalopathy
Epileptic encephalopathy
- MedGen UID: 452596
- Concept ID: C0543888
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Global brain atrophy
Global brain atrophy
- MedGen UID: 66840
- Concept ID: C0241816
- Finding: Pathologic Function
Abnormality of the nervous system
- Global developmental delay
Global developmental delay
- MedGen UID: 107838
- Concept ID: C0557874
- Finding: Finding
Abnormality of the nervous system
- Hyperreflexia
Hyperreflexia
- MedGen UID: 57738
- Concept ID: C0151889
- Finding: Finding
Abnormality of the nervous system
- Intellectual disability
Intellectual disability
- MedGen UID: 811461
- Concept ID: C3714756
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Poor speech
Poor speech
- MedGen UID: 341172
- Concept ID: C1848207
- Finding: Finding
Abnormality of the nervous system
- Seizure
Seizure
- MedGen UID: 20693
- Concept ID: C0036572
- Finding: Sign or Symptom
Abnormality of the nervous system
- Cerebellar atrophy
- Ear malformation
- Low-set ears
Low-set ears
- MedGen UID: 65980
- Concept ID: C0239234
- Finding: Congenital Abnormality
Ear malformation
- Low-set ears
- Growth abnormality
- Failure to thrive
Failure to thrive
- MedGen UID: 746019
- Concept ID: C2315100
- Finding: Disease or Syndrome
Growth abnormality
- Failure to thrive
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