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Primary ciliary dyskinesia
32 OMIM references -
28 associated genes
50 connected diseases
2 signs/symptoms
Disease Type of connection
Retinitis pigmentosa
Cone rod dystrophy
Joubert syndrome with orofaciodigital defect
Achromatopsia
Orofaciodigital syndrome type 1
Primary ciliary dyskinesia - retinitis pigmentosa
Simpson-Golabi-Behmel syndrome type 2
Testicular seminomatous germ cell tumor
Early-onset autosomal dominant Alzheimer disease
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
Leber congenital amaurosis
Cornelia de Lange syndrome
Meckel syndrome
Acute promyelocytic leukemia
17p13.3 microduplication syndrome
Miller-Dieker syndrome
Microcephaly - seizures - developmental delay
Acromegaly
Familial isolated pituitary adenoma
Acute myeloblastic leukemia with maturation
Acute myeloblastic leukemia without maturation
Acute myelomonocytic leukemia
Arthrogryposis-like syndrome
Bruck syndrome
Burkitt lymphoma
Charcot-Marie-Tooth disease type 4G
Estrogen resistance syndrome
Familial isolated dilated cardiomyopathy
Giant cell glioblastoma
Gliosarcoma
Monomelic amyotrophy
Muscular dystrophy, Selcen type
Non-spherocytic hemolytic anemia due to hexokinase deficiency
Osteogenesis imperfecta type 5
Precursor T-cell acute lymphoblastic leukemia
Pseudohypoaldosteronism type 2E
Senior-Loken syndrome
Split hand-split foot malformation
Amyotrophic lateral sclerosis
Distal 17p13.3 microdeletion syndrome
Distal hereditary motor neuropathy type 7
Jeune syndrome
Lissencephaly due to LIS1 mutation
Perry syndrome
Subcortical band heterotopia
Synonym(s):
- Immotile cilia syndrome

Classification (Orphanet):
- Rare genetic disease
- Rare infertility
- Rare respiratory disease

Classification (ICD10):
- Diseases of the respiratory system -

Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal dominant
External references:
32 OMIM references -
No MeSH references

Very frequent
- Autosomal recessive inheritance
- Repeat respiratory infections