While ataxia, poor coordination, brachydactyly, diabetes mellitus, speech abnormalities, liver fibrosis, hearing loss, spasticity, and cardiovascular anomaly constitute the
[cureus.com]
Distinctive facial features, dental abnormalities, unusually short or fused fingers or toes, and a partial or complete loss of the sense of smell (anosmia) have also been
[encyclopedia.pub]
Affected individuals suffer from systemic manifestations including neurodevelopmental abnormalities such as poor coordination and hypertonia in both upper and lower extremities
[cureus.com]