Main Clinical characteristics
• Delayed speech
• Milestones of motor development moderately delayed
• Learning difficulties
• Social interaction deficits
• Anxiety-related behavior
• Autism spectrum disorders
• Mild dysmorphic signs
• Nephroblastoma (reported in one child)
• EEG: unspecific changes with theta-rhythmization without seizures.
• Pineal cyst
• Tendency to microcephaly and short stature
• Creatine kinase (CK) elevation in patients with QRICH1 variants in early childhood.
Two patients presented with congenital nevi, respectively with one large-d café-au-lait spot. Delayed/ accelerated bone age, irregular metaphyseal boundaries of proximal phalangeal growth plates, scoliosis and/or hyperlordosis were found in five of the nine patients.
QRICH1