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Congenital fibrosis of extraocular muscles
6 OMIM references -
4 associated genes
78 connected diseases
No signs/symptoms info
Disease Type of connection
Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
Polymicrogyria due to TUBB2B mutation
Common variable immunodeficiency
X-linked dominant chondrodysplasia, Chassaing-Lacombe type
Young adult-onset Parkinsonism
Familial isolated dilated cardiomyopathy
Giant cell glioblastoma
Multiple endocrine neoplasia type 1
Pseudohypoaldosteronism type 2E
Infantile Refsum disease
Neonatal adrenoleukodystrophy
Zellweger syndrome
Behavioral variant of frontotemporal dementia
Classical progressive supranuclear palsy
Progressive non-fluent aphasia
Progressive supranuclear palsy - corticobasal syndrome
Progressive supranuclear palsy - parkinsonism
Progressive supranuclear palsy - progressive non fluent aphasia
Progressive supranuclear palsy - pure akinesia with gait freezing
Semantic dementia
Acute myeloid leukemia with t(8;16)(p11;p13) translocation
Alternating hemiplegia of childhood
Benign paroxysmal torticollis of infancy
Familial congenital palsy of trochlear nerve
Familial or sporadic hemiplegic migraine
Familial paroxysmal ataxia
Inherited congenital spastic tetraplegia
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Rubinstein-Taybi syndrome due to CREBBP mutations
Spinocerebellar ataxia type 6
46,XY complete gonadal dysgenesis
46,XY partial gonadal dysgenesis
Anaplastic ependymoma
Autosomal dominant hypohidrotic ectodermal dysplasia
Intermittent hydrarthrosis
Leber congenital amaurosis
Senior-Loken syndrome
TRAPS syndrome
17p13.3 microduplication syndrome
Acute myeloblastic leukemia with maturation
Acute myeloblastic leukemia without maturation
Acute myelomonocytic leukemia
Acute promyelocytic leukemia
Adrenocortical carcinoma
Anophthalmia / microphthalmia - esophageal atresia
Atelosteogenesis type I
Atelosteogenesis type III
Autosomal dominant Larsen syndrome
Autosomal dominant aplasia and myelodysplasia
B-cell chronic lymphocytic leukemia
Boomerang dysplasia
Burkitt lymphoma
Colobomatous microphthalmia
Combined deficiency of factor V and factor VIII
Congenital atransferrinemia
Distal 17p13.3 microdeletion syndrome
Essential thrombocythemia
Estrogen resistance syndrome
Familial pancreatic carcinoma
Glycogen storage disease due to liver phosphorylase kinase deficiency
Isolated anophthalmia - microphthalmia
Keratosis follicularis spinulosa decalvans
Li-Fraumeni syndrome
Miller-Dieker syndrome
Papilloma of choroid plexus
Precursor B-cell acute lymphoblastic leukemia
Precursor T-cell acute lymphoblastic leukemia
Proximal spinal muscular atrophy type 1
Proximal spinal muscular atrophy type 2
Proximal spinal muscular atrophy type 3
Proximal spinal muscular atrophy type 4
Septo-optic dysplasia
Spondylocarpotarsal synostosis
X-linked Emery-Dreifuss muscular dystrophy
Berardinelli-Seip congenital lipodystrophy
Lissencephaly due to TUBA1A mutation

Classification (Orphanet):
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease

Classification (ICD10):
- Diseases of the eye and adnexa -

Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant
External references:
6 OMIM references -
No MeSH references

Gene symbol UniProt reference OMIM reference
KIF21A Q7Z4S6608283
PHOX2A O14813602753
TUBB2B Q9BVA1612850
TUBB3 Q13509602661
No signs/symptoms info available.