Spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant

Preferred Label : Spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant;

Symbol : SMALED2B;

CISMeF acronym : SMALED2B;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the BICD carbo adaptor 2 gene (BICD2, 609797.0007);

Prefixed ID : #618291;

Details

Origin ID

618291;

UMLS CUI

C4749003;

Currated CISMeF NLP mapping
- spinal muscular atrophy with lower extremity predominante 2B [DO Concept]
DO Cross reference
- spinal muscular atrophy with lower extremity predominante 2B [DO Concept]
Genes related to phenotype
- Bicd cargo adaptor 2 [OMIM gene]
HPO term(s)
- Abnormal foot morphology [HPO term]
- Abnormality of the pinna [HPO term]
- Arthrogryposis multiplex congenita [HPO term]
- Autosomal dominant inheritance [HPO term]
- Cerebellar hypoplasia [HPO term]
- Cerebral cortical atrophy [HPO term]
- Congenital hip dislocation [HPO term]
- Congenital onset [HPO term]
- Decreased fetal movement [HPO term]
- Feeding difficulties [HPO term]
- Flexion contracture [HPO term]
- Hand clenching [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Kyphosis [HPO term]
- Macrocephaly [HPO term]
- Micrognathia [HPO term]
- Midface retrusion [HPO term]
- Motor delay [HPO term]
- Overlapping fingers [HPO term]
- Polymicrogyria [HPO term]
- Respiratory failure [HPO term]
- Respiratory insufficiency due to muscle weakness [HPO term]
- Scoliosis [HPO term]
- Severe muscular hypotonia [HPO term]
- Skeletal muscle atrophy [HPO term]
- Talipes equinovarus [HPO term]
- Ventriculomegaly [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients