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4 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
4 associated genes
21 signs/symptoms
Severe congenital nemaline myopathy
Sheldon-Hall syndrome

ACTA1 MYH3
KLHL40 TNNI2
KLHL41 TNNT3
NEB TPM2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
ACTA1
(0.56)
TPM2



Citations in the biomedical literature:


Severe congenital nemaline myopathy
ACTA1 KLHL40 KLHL41 NEB
Sheldon-Hall syndrome
MYH3 TNNI2 TNNT3 TPM2



Severe congenital nemaline myopathy
Sheldon-Hall syndrome

Synonym(s):
(no synonyms)

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 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: child / adolescent
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:
No OMIM references
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



Severe congenital nemaline myopathy

(no data available)