Spinal muscular atrophy with congenital bone fractures 2

Preferred Label : Spinal muscular atrophy with congenital bone fractures 2;

Symbol : SMABF2;

CISMeF acronym : SMABF2;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the activating signal cointegrator 1 complex, subunit 1 gene (ASCC1, 614215.0002);

Prefixed ID : #616867;

Details

Origin ID

616867;

UMLS CUI

C4225176;

Genes related to phenotype
- Activating signal cointegrator 1 complex, subunit 1 [OMIM gene]
HPO term(s)
- Abnormal cortical gyration [HPO term]
- Areflexia [HPO term]
- Arthrogryposis multiplex congenita [HPO term]
- Autosomal recessive inheritance [HPO term]
- Axonal loss [HPO term]
- Congenital onset [HPO term]
- Decreased fetal movement [HPO term]
- Dysphagia [HPO term]
- Flexion contracture [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Increased variability in muscle fiber diameter [HPO term]
- Multiple prenatal fractures [HPO term]
- Muscle weakness [HPO term]
- Neonatal respiratory distress [HPO term]
- Patent ductus arteriosus [HPO term]
- Patent foramen ovale [HPO term]
- Peripheral axonal neuropathy [HPO term]
- Polyhydramnios [HPO term]
- Premature birth [HPO term]
- Pulmonary hypoplasia [HPO term]
- Respiratory failure [HPO term]
- Severe muscular hypotonia [HPO term]
- Skeletal muscle atrophy [HPO term]
- Spinal muscular atrophy [HPO term]
ORDO concept(s)
- Prenatal-onset spinal muscular atrophy with congenital bone fractures [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
Validated automatic mappings to NTBT
- Prenatal-onset spinal muscular atrophy with congenital bone fractures [ORDO Disease]

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