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ICF syndrome
2 OMIM references -
2 associated genes
16 connected diseases
22 signs/symptoms
Disease Type of connection
Cerebellar ataxia-deafness-narcolepsy syndrome
Weaver syndrome
Extraskeletal Ewing sarcoma
17q11 microdeletion syndrome
Blackfan-Diamond anemia
Familial isolated hyperparathyroidism
Familial parathyroid adenoma
Hyperparathyroidism - jaw tumor syndrome
Isolated brachycephaly
Isolated scaphocephaly
Melanoma of soft part
Parathyroid carcinoma
Pseudohypoaldosteronism type 2E
Saethre-Chotzen syndrome
Transient neonatal diabetes mellitus
Catecholaminergic polymorphic ventricular tachycardia
Synonym(s):
- Immunodeficiency - centromeric instability - facial anomalies
Classification (Orphanet):
- Rare genetic disease
- Rare immune disease
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal recessive
External references:
2 OMIM references -
No MeSH references
Gene symbol UniProt reference OMIM reference
DNMT3B Q9UBC3602900
ZBTB24 O43167614064
Very frequent
- Agammaglobulinemia / hypogammaglobulinemia / B-cell deficiency
- Autosomal recessive inheritance
- Fragile chromosomal site (other than Xq28)
- Immunodeficiency / increased susceptibility to infections / recurrent infections
- Micrognathia / retrognathia / micrognathism / retrognathism
- Repeat respiratory infections
- Short stature / dwarfism / nanism

Frequent
- Anaemia
- Communicating hydrocephaly
- Depressed nasal bridge
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Lymphopenia
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Malabsorption / chronic diarrhea / steatorrhea
- Polynuclear cells / neutrophils anomalies / neutropenia
- T-cell deficiency / cellular immunity deficiency

Occasional
- Epicanthic folds
- Flat face
- Hypertelorism
- Low set ears / posteriorly rotated ears
- Macroglossia / tongue protrusion / proeminent / hypertrophic
- Umbilical hernia