<unk>  is characterized by genital abnormalities, missing or underdeveloped kneecaps (patellae), intellectual disability and abnormalities affecting other parts of the body. It is also associated with delayed development and intellectual disability, which are often severe. Affected individuals may have an unusually small head (microcephaly) and structural brain abnormalities, including agenesis of the corpus callosum. Major features include: * Patellar hypoplasia/agenesis * Flexion contractures at the hips and knees (including club feet) * Agenesis of the corpus callosum with microcephaly * Hydronephrosis and/or multiple kidney cysts Other features may include: * Dental anomalies (delayed eruption of teeth) * Hearing loss * Thyroid anomalies * Anal anomalies * Hypotonia * Global developmental delay/intellectual disability * Intestinal malrotation
Genitopatellar syndrome
Rectovestibular fistula
Ischiopatellar dysplasia
Oculoauricular syndrome
Superior canal dehiscence syndrome
Jugular foramen syndrome
Trigeminal trophic syndrome
Orbital apex syndrome