has material basis in germline mutation in ARX syndromic disease hereditary disease corpus callosum agenesis-abnormal genitalia syndrome https://github.com/monarch-initiative/mondo/issues/6878 https://www.malacards.org/card/corpus_callosum_agenesis_of_with_abnormal_genitalia Orphanet:2508 SCTID:763797003 UMLS:C0796124 Proud syndrome MESH:C563110 New X-linked syndrome with seizures, acquired micrencephaly, and agenesis of the corpus callosum Proud-Levine-Carpenter syndrome OMIM:300004 MONDO:0010224 microcephaly-corpus callosum agenesis-abnormal genitalia syndrome ACC-abnormal genitalia syndrome GARD:0004528 MEDGEN:163217 DOID:0112151 Proud Levine Carpenter 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.