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ataxia-photosensitivity-short stature syndrome

Disease Summary
Associated Targets ()

Mondo Description Ataxia-photosensitivity-short stature syndrome is 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. Additonal 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.
Mondo Term and Equivalent IDs
MONDO:0015248:  ataxia-photosensitivity-short stature syndrome
Orphanet:1184: 
UMLS:CN237421: