Clinical Characteristics

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.