Al Gazali Khidr Prem Chandran syndrome
A disease characterized by cherubism (disorder characterized by abnormal bone tissue in the lower part of the face. Beginning in early childhood, both the lower jaw (the mandible) and the upper jaw (the maxilla) become enlarged as bone is replaced with painless, cyst-like growths.), visual impairment due to optic atrophy and short stature. This is an n-of-1 use case where only one patient or family has been described with this disorder.
MONDO:0002320
congenital nervous system disorder
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MONDO:0007315
cherubism
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MONDO:0020250
autosomal dominant optic atrophy
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cherubism, optic atrophy and short stature
related