Corpus callosum agenesis-abnormal genitalia syndrome

Corpus callosum agenesis-abnormal genitalia syndrome is a rare, genetic developmental defect during embryogenesis syndrome characterized by agenesis of the corpus callosum, mild to severe neurological manifestations (intellectual disability, developmental delay, epilepsy, dystonia), and urogenital anomalies (hypospadias, cryptorchidism, renal dysplasia, ambiguous genitalia). Additionally, skeletal anomalies (limb contractures, scoliosis), dysmorphic facial features (large eyes, prominent supraorbital ridges, synophris) and optic atrophy have been observed.

Also known as: ACC-abnormal genitalia syndrome, Proud syndrome, Proud-Levine-Carpenter syndrome, microcephaly-corpus callosum agenesis-abnormal genitalia syndrome, ACC with abnormal genitalia, New X-linked syndrome with seizures, acquired micrencephaly, and agenesis of the corpus callosum, Proud Levine Carpenter syndrome, corpus callosum, agenesis of, with abnormal genitalia

0 clinical trials for this condition and its sub-types, 0 tagged with Corpus callosum agenesis-abnormal genitalia syndrome itself.