| Phenotype details |
no microcephaly (-HP:0000252), downslanting palpebral fissures (HP:0000494), no epicanthus (-HP:0000286), strabismus (HP:0000486), no blue sclera in infancy (-HP:0000592), no flat midface (-HP:0040199), thin upper lip (-HP:0000219), everted lower lip (HP:0000232), abnormality of the nares (HP:0005288), full tip nose (HP:?), retrognathia (HP:0000278), large tip of the nose (HP:?), high palate (HP:0000218), no external ear anomalies (-HP:0000356), joint hypermobility (HP:0001382), no short stature (-HP:0004322), no gait abnormalities (-HP:0001288), large 2nd metacarpals (HP:?), scoliosis (HP:0002650), no autism spectrum disorder (-HP:0000729), no repetitive behaviour (-HP:0000733), anxiety (HP:0000739), eating disorder (HP:?), no sleep disturbance (-HP:0002360); moderate intellectual disability (HP:0002342) |