| Remarks |
Clinically affected; symptom onset at infancy; diagnosed by geneticist; decreased fetal movement during pregnancy; craniofacial: dysmorphic facial features, ear malformation, hypertelorism, mid-face retrusion (hypoplasia), obstructive sleep apnea, hoarse voice; cutaneous: hyperpigmentation, hypopigmentation; musculoskeletal: brachydactyly, pes planus, short neck; neurological clinical findings: defective vision, strabismus, weakness, hypotonia, absent reflexes; normal neurological structure; growth development: fine motor delay, gross motor delay, short stature, speech delay, overweight/obese; cognitive/behavioral: intellectual disability - 47 IQ/DQ, ADHD, oppositional defiant disorder, sleep disturbance, self-injurious behaviors, disruptive behavior disorder, impulsive unprovoked aggression, hebephrenic, sometimes elated; karyotype: 46,XY; mutation in RAI1 gene: c.527A>T (K1753X). |