The following are symptoms characteristic with individuals having the disorder. Individuals may display some, most, or all of these symptoms throughout the course of their life, though symptoms may vary with each patient. * Abnormal hair (coarse, thick, brittle) * Calvarial hypomineralization (soft skull) * Y-shaped cataracts by 1–2 years of age * Skeletal defects * Hypertelorism (wide-set eyes) * Facial dysmorphisms * Late-closing fontanels * Abnormal accumulation of proteins in the endoplasmic reticulum * Scoliosis * Broad forehead, nose * Missing, small teeth or abnormal teeth positioning * Poor skull calcification * Flat foot * Motor delay * Abnormal vertebrae * Prominent forehead and brow * High nose bridge * Capillary hemangioma * Delayed tooth eruption * Long upper lip groove * Large mouth * High arched palate * Narrow hips and rib cage * Thin lips * Narrow and sloping shoulders * Hyperpigmentation * Hyperextensible joints Onset of the disease is in neonatal development and infancy, and symptoms tend to become evident soon after birth.
Cranio-lenticulo-sutural dysplasia
Dandy–Walker malformation
Regional odontodysplasia
Congenital fourth nerve palsy
Choroid plexus tumor
Craniodiaphyseal dysplasia
Nasal glial heterotopia
Ischiopatellar dysplasia