Locus | Clinical features |
---|---|
1p36 | Distinctive facies, seizure, sensorineural hearing loss, cardiomyopathy, learning disability |
2q37 | Partial phenocopy of Albright hereditary osteodystrophy, learning disability |
9q34 | Midface hypoplasia, learning disability, conotruncal defects, hypotonia, obesity |
22q13 | Severe speech and language delay and autistic-like behaviour, learning disability |