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Up to: Syndromic disease · Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
Ataxia-photosensitivity-short stature syndrome
A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by cerebellar-like ataxia, photosensitivity (mainly of the face and trunk), short stature and intellectual disability. Additional features include clinodactyly, single palmar transverse crease, high-arched palate, pseudohypertrophy of the calves and aortic valve lesions. There have been no further descriptions in the literature since 1983.
This condition has no sub-types.