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Arthrogryposis-like syndrome
1 OMIM reference -
1 associated gene
9 connected diseases
11 signs/symptoms
Disease Type of connection
Bruck syndrome
Osteogenesis imperfecta type 5
Osteogenesis imperfecta type 2
Osteogenesis imperfecta type 3
Primary ciliary dyskinesia
Autosomal dominant cutis laxa
Supravalvular aortic stenosis
Williams syndrome
Hirschsprung disease
Synonym(s):
- Kuskokwim disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (ICD10):
(no data available)
Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
FKBP10 Q96AY3607063
Very frequent
- Abnormal gait
- Autosomal recessive inheritance
- Patella absent / abnormal (excluding luxation)
- Restricted joint mobility / joint stiffness / ankylosis

Frequent
- Talipes-varus / metatarsal varus

Occasional
- Abnormal vertebral size / shape
- Areflexia / hyporeflexia
- Clavicle absent / abnormal
- Pigmented naevi / naevus pigmentosus / lentigo
- Radius anomaly / absence / agenesis / hypoplasia / abnormal radial ray
- Scoliosis