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Fetal akinesia-cerebral and retinal hemorrhage syndrome
1 OMIM reference -
1 associated gene
47 connected diseases
No signs/symptoms info
Disease Type of connection
Autosomal dominant Charcot-Marie-Tooth disease type 2M
Autosomal dominant centronuclear myopathy
Autosomal dominant intermediate Charcot-Marie-Tooth disease type B
Precursor T-cell acute lymphoblastic leukemia
Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
Retinitis pigmentosa
Pyogenic arthritis - pyoderma gangrenosum - acne
Joubert syndrome with ocular defect
Osteogenesis imperfecta type 2
Osteogenesis imperfecta type 3
Osteogenesis imperfecta type 4
Autosomal dominant Charcot-Marie-Tooth disease type 2B
Acute promyelocytic leukemia
Autosomal recessive hyper-IgE syndrome due to TYK2 deficiency
Autosomal recessive nonsyndromic intellectual deficit
Burkitt lymphoma
Chronic myeloid leukemia
Fibronectin glomerulopathy
Giant cell glioblastoma
Gliosarcoma
Glycogen storage disease due to muscle glycogen phosphorylase deficiency
Huntington disease
Juvenile Huntington disease
Juvenile rheumatoid factor-negative polyarthritis
Machado-Joseph disease type 1
Machado-Joseph disease type 2
Machado-Joseph disease type 3
Oligoarticular juvenile arthritis
Precursor B-cell acute lymphoblastic leukemia
Wiskott-Aldrich syndrome
X-linked severe congenital neutropenia
X-linked thrombocytopenia with normal platelets
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
Infantile Refsum disease
Neonatal adrenoleukodystrophy
Zellweger syndrome
Amyotrophic lateral sclerosis
Autosomal recessive centronuclear myopathy
Baraitser-Winter syndrome
Developmental malformations - deafness - dystonia
Familial capillary hemangioma
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
(no data available)
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
DNM2 P50570602378
No signs/symptoms info available.