Disease: Postaxial Acrofacial Dysostosis

Name Postaxial Acrofacial Dysostosis

Synonyms GENEE-WIEDEMANN SYNDROME , MILLER SYNDROME

Classification bone, developmental, eye, genetic, otorhinolaryngological, surgical maxillo-facial

Phenotypes Abnormal foot morphology; Abnormality of the kidney; Autosomal recessive inheritance; Choanal atresia; Cleft palate; Cleft upper lip; Conductive hearing impairment; Congenital hip dislocation; Conical tooth; Cryptorchidism; Cupped ear; Downslanted palpebral fissures; Ectropion; Eyelid coloboma; Growth delay; Hypoplasia of the radius; Hypoplasia of the ulna; Low-set ears; Malar flattening; Micrognathia; Micropenis; Midgut malrotation; Pectus excavatum; Postnatal growth retardation; Pyloric stenosis; Radioulnar synostosis; Short thumb; Supernumerary nipple; Supernumerary vertebrae; Syndactyly

Associated Genes DHODH

Mouse Orthologs Dhodh (Withdrawn symbols: 2810417D19Rik, AI834883 )

Source OMIM:263750 (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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