corpus callosum agenesis-abnormal genitalia syndrome

Term ID

DOID:0112151

Synonyms

• ACC with abnormal genitalia
• corpus callosum agenesis with abnormal genitalia
• microcephaly-corpus callosum agenesis-abnormal genitalia syndrome
• Proud syndrome
• Proud-Levine-Carpenter syndrome

Definition

A syndrome characterized by agenesis of the corpus callosum, severe intellectual disability, seizures, and spasticity with males showing a severe phenotype and females showing a mild or non-affected phenotype that has_material_basis_in mutation in ARX on chromosome Xp21.3. (2)

References

• GARD:4528
• OMIM:300004
• ORDO:2508

Ontology

Human Disease   ( DOID:0112151 )