Disease: Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies

Name Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies


Classification developmental, eye, genetic

Phenotypes Abnormal abdomen morphology; Anodontia; Atresia of the external auditory canal; Autosomal recessive inheritance; Blepharophimosis; Delayed eruption of teeth; Delayed skeletal maturation; Dental malocclusion; Downslanted palpebral fissures; Epicanthus; Failure to thrive; Finger syndactyly; Growth hormone deficiency; Hearing impairment; High palate; Hypotelorism; Increased number of teeth; Kyphoscoliosis; Low-set ears; Micrognathia; Narrow palate; Numerous nevi; Pectus excavatum; Pseudopapilledema; Sandal gap; Short foot; Short metacarpal; Short phalanx of finger; Short stature; Wide nasal base

Associated Genes -

Mouse Orthologs -

Source OMIM:264475 (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:264475 by orthology to a human gene.

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