ODCs

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1 OMIM reference -
1 associated gene
10 signs/symptoms

COMMON GENES: 1

1 OMIM reference -
1 associated gene
No signs/symptoms info

Gnathodiaphyseal dysplasia

Autosomal recessive limb-girdle muscular dystrophy type 2L

ANO5

Citations in the biomedical literature:

Gnathodiaphyseal dysplasia		Autosomal recessive limb-girdle muscular dystrophy type 2L
	Synonym(s): - GDD		Synonym(s): - LGMD2L

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease		Classification (Orphanet): - Rare genetic disease - Rare neurologic disease

	Classification (ICD10): (no data available)		Classification (ICD10): - Diseases of the nervous system -

	Epidemiological data: Class of prevalence: - Average age onset: - Average age of death: - Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: adulthood Average age of death: - Type of inheritance: autosomal recessive

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - No MeSH references

Gnathodiaphyseal dysplasia
	Very frequent - Autosomal dominant inheritance - Bowed diaphysis / diaphyses / long bones - Cortical anomaly / thick bone cortical layer - Enlargment of jaw / large jaw Frequent - Osteomyelitis / osteitis / periostitis / spondylodisciitis - Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets - Premature eruption of teeth / natal teeth Occasional - Bone tumefaction / swelling - Mutiple fractures / bone fragility - Scoliosis
Autosomal recessive limb-girdle muscular dystrophy type 2L
(no data available)