Pachygyria with impaired intellectual development, seizures, and arachnoid cysts

Preferred Label : Pachygyria with impaired intellectual development, seizures, and arachnoid cysts;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Pachygyria with mental retardation and seizures; Pachygyria with mental retardation, seizures, and arachnoid cysts;

Description : This autosomal recessive neurodevelopmental disorder is characterized by pachygyria, mental retardation, seizures, and diffuse localization of arachnoid cysts. It most likely represents a neuronal migration disorder within the lissencephaly spectrum (summary by Guzel et al., 2007).;

Inheritance : Autosomal recessive;

Prefixed ID : %600176;

Détails

Origin ID

600176;

UMLS CUI

C1838491;

Currated CISMeF NLP mapping
- Kuzniecky syndrome [MeSH concept]
- Pachygyria, intellectual disability, epilepsy syndrome (disorder) [SNOMED CT concept]
- Pachygyria-intellectual disability-epilepsy syndrome [ORDO Disease]
- kuzniecky syndrome [MeSH Supplementary Concept]
HPO term(s)
- Abnormality of the skeletal system [HPO term]
- Arachnoid cyst [HPO term]
- Atypical absence seizure [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bilateral tonic-clonic seizure [HPO term]
- Global developmental delay [HPO term]
- Intellectual disability [HPO term]
- Pachygyria [HPO term]
- Profound static encephalopathy [HPO term]
ORDO concept(s)
- Pachygyria-intellectual disability-epilepsy syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Kuzniecky syndrome [MeSH concept]
- Pachygyria, intellectual disability, epilepsy syndrome (disorder) [SNOMED CT concept]
- Pachygyria-intellectual disability-epilepsy syndrome [ORDO Disease]
- kuzniecky syndrome [MeSH Supplementary Concept]

Position du mot-clé dans l'(les) arborescence(s) :

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