Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities

MONDO:0007180

Also known as:

Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalitiesDe Hauwere syndromeiris dysplasia with ocular hypertelorism, psychomotor retardation, and sensorineural deafness

Genes

–

Clinical Trials

–

Newborn Screening

–

Patient Groups

–

Patient-Friendly Information

Comprehensive, easy-to-understand information about this condition

How we create this content →

Report Generation Failed

We couldn't automatically generate the report. This may be due to temporary service issues.

Need this data in your product?

Kisho delivers this disease record via API, including phenotypes (HPO), genes, orphan drug designations, screening status, and PAG mapping, with version history and governance.

Explore API Start Free

← Back to All Diseases

Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities

Patient-Friendly Information

Need this data in your product?

Scientific Intelligence