Seizures, cortical blindness, and microcephaly syndrome

Preferred Label : Seizures, cortical blindness, and microcephaly syndrome;

Symbol : SCBMS;

CISMeF acronym : SCBMS;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the diaphanous-related formin 1 gene (DIAPH1, 602121.0002);

Prefixed ID : #616632;

Details

Origin ID

616632;

UMLS CUI

C5567650;

CISMeF manual mappings
- Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- Progressive microcephaly, seizures, cortical blindness, developmental delay syndrome (disorder) [SNOMED CT concept]
Genes related to phenotype
- Diaphanous-related formin 1 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Cerebral visual impairment [HPO term]
- Generalized hypotonia [HPO term]
- Growth delay [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Hypotonia [HPO term]
- Microcephaly [HPO term]
- Optic atrophy [HPO term]
- Poor speech [HPO term]
- Seizure [HPO term]
- Short stature [HPO term]
ORDO concept(s)
- Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Progressive microcephaly, seizures, cortical blindness, developmental delay syndrome (disorder) [SNOMED CT concept]
- Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome [ORDO Disease]

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