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.
MONDO:0002254
syndromic disease
is_a
MONDO:0003847
hereditary disease
is_a
ACC-abnormal genitalia syndrome
exact
New X-linked syndrome with seizures, acquired micrencephaly, and agenesis of the corpus callosum
related
Proud Levine Carpenter syndrome
related
Proud syndrome
exact
Proud-Levine-Carpenter syndrome
exact
microcephaly-corpus callosum agenesis-abnormal genitalia syndrome
exact