Immunodeficiency-centromeric instability-facial anomalies syndrome 2
Summary
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (22 available)
Genes See tests for all associated and related genes
Also known as: BIF1, ICF2, PATZ2, ZNF450, ZBTB24
Summary: zinc finger and BTB domain containing 24
Clinical features
Help- Abnormality of head or neck
- Anteverted nares
Anteverted nares
- MedGen UID: 326648
- Concept ID: C1840077
- 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
- Epicanthus
Epicanthus
- MedGen UID: 151862
- Concept ID: C0678230
- Finding: Congenital Abnormality
Abnormality of head or neck
- High palate
High palate
- MedGen UID: 66814
- Concept ID: C0240635
- Finding: Congenital Abnormality
Abnormality of head or neck
- Round face
Round face
- MedGen UID: 116087
- Concept ID: C0239479
- Finding: Finding
Abnormality of head or neck
- Short chin
Short chin
- MedGen UID: 784514
- Concept ID: C3697248
- Finding: Finding
Abnormality of head or neck
- Short nose
Short nose
- MedGen UID: 343052
- Concept ID: C1854114
- Finding: Finding
Abnormality of head or neck
- Anteverted nares
- Abnormality of the digestive system
- Diarrhea
Diarrhea
- MedGen UID: 8360
- Concept ID: C0011991
- Finding: Sign or Symptom
Abnormality of the digestive system
- Diarrhea
- Abnormality of the eye
- Hypertelorism
Hypertelorism
- MedGen UID: 9373
- Concept ID: C0020534
- Finding: Finding
Abnormality of the eye
- Hypertelorism
- Abnormality of the immune system
- B lymphocytopenia
B lymphocytopenia
- MedGen UID: 340780
- Concept ID: C1855067
- Finding: Finding
Abnormality of the immune system
- Decreased circulating IgA concentration
Decreased circulating IgA concentration
- MedGen UID: 57934
- Concept ID: C0162538
- Finding: Disease or Syndrome
Abnormality of the immune system
- Decreased circulating IgG concentration
Decreased circulating IgG concentration
- MedGen UID: 1720114
- Concept ID: C5234937
- Finding: Finding
Abnormality of the immune system
- Decreased circulating antibody concentration
Decreased circulating antibody concentration
- MedGen UID: 892481
- Concept ID: C4048270
- Finding: Finding
Abnormality of the immune system
- Decreased circulating total IgM
Decreased circulating total IgM
- MedGen UID: 116095
- Concept ID: C0239989
- Finding: Finding
Abnormality of the immune system
- Immunodeficiency
Immunodeficiency
- MedGen UID: 7034
- Concept ID: C0021051
- Finding: Disease or Syndrome
Abnormality of the immune system
- Pneumocystosis
Pneumocystosis
- MedGen UID: 777048
- Concept ID: C1535939
- Finding: Disease or Syndrome
Abnormality of the immune system
- Pneumonia
Pneumonia
- MedGen UID: 10813
- Concept ID: C0032285
- Finding: Disease or Syndrome
Abnormality of the immune system
- Recurrent candida infections
Recurrent candida infections
- MedGen UID: 348028
- Concept ID: C1860128
- Finding: Finding
Abnormality of the immune system
- Recurrent infections
Recurrent infections
- MedGen UID: 65998
- Concept ID: C0239998
- Finding: Finding
Abnormality of the immune system
- B lymphocytopenia
- Abnormality of the musculoskeletal system
- Retrognathia
Retrognathia
- MedGen UID: 19766
- Concept ID: C0035353
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Retrognathia
- Abnormality of the nervous system
- Global developmental delay
Global developmental delay
- MedGen UID: 107838
- Concept ID: C0557874
- 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
- Motor delay
Motor delay
- MedGen UID: 381392
- Concept ID: C1854301
- Finding: Finding
Abnormality of the nervous system
- Global developmental delay
- Abnormality of the respiratory system
- Chronic bronchitis
Chronic bronchitis
- MedGen UID: 3084
- Concept ID: C0008677
- Finding: Disease or Syndrome
Abnormality of the respiratory system
- Recurrent upper respiratory tract infections
Recurrent upper respiratory tract infections
- MedGen UID: 154380
- Concept ID: C0581381
- Finding: Disease or Syndrome
Abnormality of the respiratory system
- Chronic bronchitis
- Ear malformation
- Low-set ears
Low-set ears
- MedGen UID: 65980
- Concept ID: C0239234
- Finding: Congenital Abnormality
Ear malformation
- Low-set ears
- Growth abnormality
- Growth delay
Growth delay
- MedGen UID: 99124
- Concept ID: C0456070
- Finding: Pathologic Function
Growth abnormality
- Growth delay
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