Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations

Preferred Label : Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations;

Symbol : MCCCHCM;

CISMeF acronym : MCCCHCM;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the microtubule-associated serine/threonine kinase 1 gene (MAST1, 612256.0001);

Prefixed ID : #618273;

Details

Origin ID

618273;

UMLS CUI

C4748927;

Currated CISMeF NLP mapping
- mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations [DO Concept]
DO Cross reference
- mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations [DO Concept]
Genes related to phenotype
- Microtubule-associated serine/threonine kinase 1 [OMIM gene]
HPO term(s)
- Ataxia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Cerebellar hypoplasia [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hypoplasia of the brainstem [HPO term]
- Inability to walk [HPO term]
- Infantile onset [HPO term]
- Oculomotor apraxia [HPO term]
- Seizure [HPO term]
- Short stature [HPO term]
- Unsteady gait [HPO term]
- Ventriculomegaly [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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