ODCs

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

PROTEIN INTERACTIONS: 1

1 OMIM reference -
4 associated genes
21 signs/symptoms

Autosomal recessive limb-girdle muscular dystrophy type 2B

Sheldon-Hall syndrome


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	DYSF	(0.63)	MYH3

Citations in the biomedical literature:

Autosomal recessive limb-girdle muscular dystrophy type 2B		Sheldon-Hall syndrome
	Synonym(s): - LGMD2B - Limb-girdle muscular dystrophy due to dysferlin deficiency		Synonym(s): - Distal Arthrogryposis type 2B - Freeman-Sheldon syndrome variant

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

	Classification (ICD10): - Diseases of the nervous system -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: 1-9 / 1 000 000 Average age onset: adulthood Average age of death: normal Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: autosomal dominant

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

Sheldon-Hall syndrome
	Very frequent - Autosomal dominant inheritance - Clasp thumb / thumb adduction / distal thumb phalangeal bone deviated / large - Radius anomaly / absence / agenesis / hypoplasia / abnormal radial ray - Restricted joint mobility / joint stiffness / ankylosis - Scoliosis - Simian crease / transverse / unique palmar crease - Webbed neck / pterygium colli Frequent - Clinodactyly of fingers 1,2,3,4 / overlapping fingers - High vaulted / narrow palate - Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana - Long / large / bulbous nose - Micrognathia / retrognathia / micrognathism / retrognathism - Narrow face - Prominent / bat ears - Round ear - Short neck - Short stature / dwarfism / nanism - Tarsal anomaly / fusion / synostosis - Ulnar deviation of fingers - Vertebral segmentation anomaly / hemivertebrae - Wrist / carpal anomalies
Autosomal recessive limb-girdle muscular dystrophy type 2B
(no data available)