The presentation of NRCAM-related neurodevelopmental disorder is highly variable. The main clinical features of the disorder include:
• Failure to thrive (FTT)
• Microcephaly
• Dysmorphic facial features: large forehead, bitemporal narrowing, long face, micrognathia, bushy eyebrows, depressed nasal bridge, high-arched palate, tented mouth
• Hearing impairment
• Ophthalmological impairments: optic atrophy, hyperopia, retinal detachment, cataract, strabismus
• Respiratory insufficiency, neonatal
• Feeding difficulties
• Cryptorchidism
• Skeletal features: scoliosis, hip dysplasia, contractures, tapering fingers, foot deformities
• Global developmental delay with impaired intellectual development (in most patients)
• Hypotonia
• Ataxia
• Spasticity and hypertonicity (in some patients)
• Brain imaging abnormalities (in some patients): enlarged ventricles, thin corpus callosum, delayed myelination, white matter abnormalities, subependymal nodular gray heterotopia
• Hyporeflexia
• Sensorimotor demyelinating polyneuropathy (in some patients)
• Behavioral and psychiatric manifestations: self-injurious behaviour, irritability, aggression
NRCAM