Cortical dysplasia, complex, with other brain malformations 13

Preferred Label : Cortical dysplasia, complex, with other brain malformations 13;

Symbol : CDCBM13;

CISMeF acronym : MRD13;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Mental retardation, autosomal dominant 13, with neuronal migration defects; Mental retardation, autosomal dominant 13; MRD13; Intellectual developmental disorder, autosomal dominant 13;

Description : MRD13 is an autosomal dominant form of mental retardation associated with variable neuronal migration defects resulting in cortical malformations. More variable features include early-onset seizures and mild dysmorphic features. Some patients may also show signs of peripheral neuropathy, such as abnormal gait, hyporeflexia, and foot deformities (summary by Willemsen et al., 2012 and Poirier et al., 2013).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the dynein, cytoplasmic 1, heavy chain 1 gene (DYNC1H1, 600112.0002);

Prefixed ID : #614563;

Details

Origin ID

614563;

UMLS CUI

C3281202;

Currated CISMeF NLP mapping
- autosomal dominant non-syndromic intellectual disability 13 [DO Concept]
DO Cross reference
- autosomal dominant non-syndromic intellectual disability 13 [DO Concept]
Genes related to phenotype
- Dynein, cytoplasmic 1, heavy chain 1 [OMIM gene]
HPO term(s)
- Abnormal facial shape [HPO term]
- Abnormal foot morphology [HPO term]
- Abnormality of neuronal migration [HPO term]
- Autosomal dominant inheritance [HPO term]
- Cerebellar hypoplasia [HPO term]
- Downslanted palpebral fissures [HPO term]
- Focal-onset seizure [HPO term]
- Gait disturbance [HPO term]
- Hypoplasia of the brainstem [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Hyporeflexia [HPO term]
- Hypotonia [HPO term]
- Intellectual disability [HPO term]
- Microcephaly [HPO term]
- Pachygyria [HPO term]
- Peripheral axonal neuropathy [HPO term]
- Plagiocephaly [HPO term]
- Prominent forehead [HPO term]
- Seizure [HPO term]
- Small hand [HPO term]
- Spastic tetraplegia [HPO term]
ORDO concept(s)
- Autosomal dominant non-syndromic intellectual disability [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
- Mental or Behavioral Dysfunction [UMLS semantic type]
UMLS correspondences (same concept)
- autosomal dominant non-syndromic intellectual disability 13 [DO Concept]
Validated automatic mappings to NTBT
- Autosomal dominant non-syndromic intellectual disability [ORDO Disease]

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