Disease: Pachygyria With Mental Retardation, Seizures, And Arachnoid Cysts

Name Pachygyria With Mental Retardation, Seizures, And Arachnoid Cysts

Synonyms PACHYGYRIA WITH MENTAL RETARDATION AND SEIZURES

Classification developmental, genetic, neurological

Phenotypes Abnormality of the skeletal system; Arachnoid cyst; Atypical absence seizure; Autosomal recessive inheritance; Bilateral tonic-clonic seizure; Global developmental delay; Intellectual disability; Pachygyria; Profound static encephalopathy

Associated Genes -

Mouse Orthologs -

Source OMIM:600176 (names, synonyms, disease associated genes),
Orphanet (disease classes),
HGNC, Ensembl, MGI (gene symbols, gene orthology)
HPO (phenotypes)

Mouse Model: phenotype-based associations

Disease phenotypes are compared with mouse phenotypes, with each mouse model contributing one point to the diagram. Scores are computed according to phenotype specificity and cross-species similarity. X-axis shows the score of the single phenotype that contributes most. Y-axis shows an average among all phenotype matches. The curved line designates a visualization threshold; models below threshold are omitted, except when their genotype matches a disease-associated gene.

Mouse Models

No mouse models associated with OMIM:600176 by orthology to a human gene.

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