Disease: Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3

Name Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3

Synonyms -

Classification developmental, genetic, neurological

Phenotypes Absent speech; Autosomal dominant inheritance; Congenital onset; Global developmental delay; Hydrocephalus; Macrocephaly; Megalencephaly; Polymicrogyria; Postaxial hand polydactyly; Prominent forehead; Ventriculomegaly

Associated Genes CCND2

Mouse Orthologs Ccnd2 (Withdrawn symbols: 2600016F06Rik, AI256817, BF642806, C86853, Vin-1, Vin1 )

Source OMIM:615938 (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

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