Chudley-mccullough syndrome

Preferred Label : Chudley-mccullough syndrome;

Symbol : CMCS;

CISMeF acronym : CMCS; DFNB82;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Deafness, sensorineural, with partial agenesis of the corpus callosum and arachnoid cysts; DFNB82; Deafness, autosomal recessive 82;

Description : Chudley-McCullough syndrome is an autosomal recessive neurologic disorder characterized by early-onset sensorineural deafness and specific brain anomalies on MRI, including hypoplasia of the corpus callosum, enlarged cysterna magna with mild focal cerebellar dysplasia, and nodular heterotopia. Some patients have hydrocephalus. Psychomotor development is normal (summary by Alrashdi et al., 2011).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the G protein signaling modulator 2 gene (GPSM2, 609245.0001);

Prefixed ID : #604213;

Details

Origin ID

604213;

UMLS CUI

C1858695;

Currated CISMeF NLP mapping
- Chudley McCullough syndrome (disorder) [SNOMED CT concept]
- Chudley-McCullough syndrome [ORDO Disease]
- Chudley-Mccullough syndrome [MeSH concept]
- Chudley-Mccullough syndrome [MeSH Supplementary Concept]
Genes related to phenotype
- G protein signaling modulator 2 [OMIM gene]
HPO term(s)
- Arachnoid cyst [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cerebellar dysplasia [HPO term]
- Cerebellar hypoplasia [HPO term]
- Dysplastic corpus callosum [HPO term]
- Gray matter heterotopia [HPO term]
- Hydrocephalus [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Intellectual disability, mild [HPO term]
- Large foramen magnum [HPO term]
- Motor delay [HPO term]
- Partial agenesis of the corpus callosum [HPO term]
- Polymicrogyria [HPO term]
- Seizure [HPO term]
- Severe sensorineural hearing impairment [HPO term]
- Ventriculomegaly [HPO term]
- obsolete Gray matter heterotopias [HPO term]
ORDO concept(s)
- Chudley-McCullough syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Chudley McCullough syndrome (disorder) [SNOMED CT concept]
- Chudley-McCullough syndrome [ORDO Disease]
- Chudley-Mccullough syndrome [MeSH Supplementary Concept]
- Chudley-Mccullough syndrome [MeSH concept]

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