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agenesis of the corpus callosum with abnormal genitalia (ACCAG)
Pathology:
- agenesis of corpus callosum
Genetics:
- X-linked
- associated with defects in ARX
Clinical manifestations:
- variable expression in females:
- mental retardation
- seizures
- manifestations in surviving males include:
- severe acquired micrencephaly
- mental retardation
- limb contractures
- scoliosis
- tapered fingers with hyperconvex nails
- a characteristic face with
- large eyes
- prominent supraorbital ridges
- synophrys
- optic atrophy
- broad alveolar ridges
- seizures
- urologic anomalies include
- renal dysplasia
- cryptorchidism
- hypospadias
General
agenesis of the corpus callosum
genetic syndrome (multisystem disorder)
Database Correlations
OMIM 300004
References
OMIM :accession 300004