The combination of muscular hypotonia and fixed dilated pupils in infancy is suspicious of<unk> . Early onset partial aniridia, cerebellar ataxia, and mental retardation are hallmark of<unk> . The iris abnormality is specific and seems pathognomonic of<unk> . The aniridia consisting of a superior coloboma and inferior iris hypoplasia, foveomacular dysplasia. Atypical<unk>  associated with bilateral ptosis, exotropia, correctopia, iris hypoplasia, anterior capsular lens opacities, foveal hypoplasia, retinal vascular tortuosity, and retinal hypopigmentation. Neurological signs are nystagmus, mild craniofacial asymmetry, axial hypotonia, developmental delay, and mild mental retardation. Mariën P did not support the prevailing view of a global mental retardation as a cardinal feature of<unk>  but primarily reflect cerebellar induced neurobehavioral dysfunctions following disruption of the cerebrocerebellar anatomical circuitry that closely resembles the "cerebellar cognitive and affective<unk> " (CeCAS). Congenital pulmonary stenosis and helix dysplasia can be associated.
Gillespie syndrome
Ogden syndrome
Cowden syndrome
Sugarman syndrome
Prune belly syndrome
Werner syndrome
Fabry disease
Sanjad-Sakati syndrome