Lissencephaly 9 with complex brainstem malformation

Preferred Label : Lissencephaly 9 with complex brainstem malformation;

Symbol : LIS9;

CISMeF acronym : LIS9;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the microtubule-actin cross-linking factor 1 gene (MACF1, 608271.0001);

Prefixed ID : #618325;

Details

Origin ID

618325;

UMLS CUI

C5193029;

Currated CISMeF NLP mapping
- Posterior-predominant lissencephaly, broad flat pons and medulla-midline crossing defects syndrome (disorder) [SNOMED CT concept]
- Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome [ORDO Disease]
- lissencephaly 9 with complex brainstem malformation [DO Concept]
Genes related to phenotype
- Microtubule-actin cross-linking factor 1 [OMIM gene]
HPO term(s)
- Absent speech [HPO term]
- Autosomal dominant inheritance [HPO term]
- Cerebellar hypoplasia [HPO term]
- Dysphagia [HPO term]
- Facial asymmetry [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hypoplasia of the brainstem [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Infantile onset [HPO term]
- Involuntary movements [HPO term]
- Lissencephaly [HPO term]
- Microcephaly [HPO term]
- Pachygyria [HPO term]
- Seizure [HPO term]
- Short stature [HPO term]
- Spasticity [HPO term]
- Strabismus [HPO term]
ORDO concept(s)
- Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome [ORDO Disease]
See also inter- (CISMeF)
- MACF1 wt Allele [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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