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.
MONDO:0100309
hereditary ataxia
excluded_subClassOf
MONDO:0002254
syndromic disease
is_a
MONDO:0015159
multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a
Fenton Wilkinson Toselano syndrome
exact
Fenton-Wilkinson-Toselano syndrome
exact