• Abnormality of head or neck
o Broad nasal tip
o Depressed nasal bridge
o Downturned corners of mouth
o Epicanthal fold
o Narrow forehead
o Round face
o Short palpebral fissure
o Submucous cleft hard palate
o Thin upper lip vermilion
o Upslanted palpebral fissur
• Abnormality of limbs
o Brachydactyly
o Tapered fingers
• Abnormality of the eye
o Astigmatism
o Esotropia
o Hypotelorism
• Abnormality of the genitourinary system
o Nocturnal enuresis
• Abnormality of the immune system
o Recurrent otitis media
• Abnormality of the musculoskeletal system
o Microcephaly
o Neonatal hypotonia
o Plagiocephaly
• Abnormality of the nervous system
o Aggressive behavior
o Attention deficit hyperactivity disorder
o Autistic behavior
o Delayed speech and language development
o Global developmental delay
o Happy demeanor
o Hemidystonia
o Obstructive sleep apnea syndrome
o Recurrent hand flapping
o Seizure
o Sensory seeking
o Speech apraxia
o Torticollis
o Tremor
• Ear malformation
o Posteriorly rotated ears
• Growth abnormality
o Obesity
PRKAR1B