Congenital myopathy 19

Preferred Label : Congenital myopathy 19;

Symbol : CMYO19;

CISMeF acronym : MYOSCO;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Myopathy, congenital, progressive, with scoliosis; MYOSCO;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the paired box gene 7 gene (PAX7, 167410.0001);

Prefixed ID : #618578;

Détails

Origin ID

618578;

UMLS CUI

C5231417;

Genes related to phenotype
- Paired box gene 7 [OMIM gene]
HPO term(s)
- Areflexia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bell-shaped thorax [HPO term]
- Congenital contracture [HPO term]
- Cryptorchidism [HPO term]
- Decreased fetal movement [HPO term]
- Depressed nasal ridge [HPO term]
- Dysphagia [HPO term]
- Facial hypotonia [HPO term]
- Gait disturbance [HPO term]
- Gaze-evoked horizontal nystagmus [HPO term]
- Generalized hypotonia [HPO term]
- Hearing impairment [HPO term]
- High palate [HPO term]
- Hydronephrosis [HPO term]
- Infantile axial hypotonia [HPO term]
- Low-set ears [HPO term]
- Micrognathia [HPO term]
- Motor delay [HPO term]
- Muscle weakness [HPO term]
- Posteriorly rotated ears [HPO term]
- Ptosis [HPO term]
- Renal atrophy [HPO term]
- Respiratory insufficiency [HPO term]
- Respiratory insufficiency due to muscle weakness [HPO term]
- Scoliosis [HPO term]
- Skeletal muscle atrophy [HPO term]
- Triangular face [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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