Rigidity and multifocal seizure syndrome, lethal neonatal

Preferred Label : Rigidity and multifocal seizure syndrome, lethal neonatal;

Symbol : RMFSL;

CISMeF acronym : RMFSL;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the BRCA1-associated ATM activator 1 gene (BRAT1, 614506.0001);

Prefixed ID : #614498;

Details

Origin ID

614498;

UMLS CUI

C3281029;

CISMeF manual mappings
- Lethal Neonatal Rigidity and Multifocal Seizure Syndrome [NCIt concept]
- Lethal neonatal spasticity-epileptic encephalopathy syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- Lethal neonatal spasticity, epileptic encephalopathy syndrome (disorder) [SNOMED CT concept]
Genes related to phenotype
- Brca1-associated atm activator 1 [OMIM gene]
HPO term(s)
- Abnormal autonomic nervous system physiology [HPO term]
- Apnea [HPO term]
- Autosomal recessive inheritance [HPO term]
- Babinski sign [HPO term]
- Bradycardia [HPO term]
- Clonus [HPO term]
- Death in infancy [HPO term]
- Delayed myelination [HPO term]
- Flexion contracture [HPO term]
- Generalized myoclonic seizure [HPO term]
- Gliosis [HPO term]
- Global developmental delay [HPO term]
- Hyperreflexia [HPO term]
- Hypertonia [HPO term]
- Inguinal hernia [HPO term]
- Microcephaly [HPO term]
- Micrognathia [HPO term]
- Multifocal seizures [HPO term]
- Myoclonic spasms [HPO term]
- Neuronal loss in central nervous system [HPO term]
- Optic atrophy [HPO term]
- Progressive [HPO term]
- Progressive microcephaly [HPO term]
- Rigidity [HPO term]
- Seizure [HPO term]
ORDO concept(s)
- Lethal neonatal spasticity-epileptic encephalopathy syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Lethal Neonatal Rigidity and Multifocal Seizure Syndrome [NCIt concept]
- Lethal neonatal spasticity, epileptic encephalopathy syndrome (disorder) [SNOMED CT concept]
- Lethal neonatal spasticity-epileptic encephalopathy syndrome [ORDO Disease]

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