Phenotype | affected individual |
---|---|
Brachycephaly | 2/10 |
Macrocephaly | 3/10 |
Facies sign abnormal | 3/10 |
Low/abnormal hairline | 4/10 |
Dental hypoplasia/dysplasia | 7/10 |
Wide alveolar ridge | 6/10 |
High, narrow palate | 7/10 |
Kyphosis | 3/10 |
Spina bifida occulta | 5/10 |
Pectus excavatum | 5/10 |
Syndactyly involving thumb | 9/10 |
Carpal fusion | 10/10 |
Broad, bifid 1st toe | 10/10 |
Tarsal fusion | 10/10 |
Short, acromelic limbs | 1/10 |