Table 3. [Recommended Evaluations Following Initial Diagnosis of RAB18 Deficiency]. - GeneReviews®

System/Concern	Evaluation	Comment
Eyes	Ophthalmologic exam	Consultation w/neurologist if spasticity found or seizures suspected
Neurologic	Measurement of head size (OFC); assessment of motor function & reflexes
Gastrointestinal	Consultation w/feeding specialist, nutritionist, &/or gastroenterologist for assessment of feeding difficulties & nutritional status
Endocrine	Eval by endocrinologist recommended	Consider consultation w/urologist if a male has cryptorchidism.
Miscellaneous / Other	Assessment of developmental milestones
Consultation w/clinical geneticist &/or genetic counselor

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