Presentation
Jaw & Teeth
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Macroglossia
[…] protein intolerance Mac Dermot Winter syndrome Macrocephaly, benign familial Macrocephaly-short stature-paraplegia syndrome Macrodactyly of the foot Macrodactyly of the hand Macroepiphyseal dysplasia with osteoporosis, wrinkled skin, and aged appearance Macroglossia [rarediseases.info.nih.gov]
Neurologic
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High Pain Threshold
PAIN THRESHOLD INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPERTELORISM AND DISTINCTIVE FACIES INTELLECTUAL DEVELOPMENTAL DISORDER WITH MACROCEPHALY, SEIZURES, AND SPEECH DELAY INTELLECTUAL DEVELOPMENTAL DISORDER WITH NEUROPSYCHIATRIC FEATURES INTELLECTUAL [rgd.mcw.edu]
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Spastic Quadriplegia
Quadriplegia, and Mental Retardation Ichthyosis-Mental Retardation Syndrome with Large Keratohyalin Granules in the Skin Iida Kannari Syndrome Iliotibial Band Syndrome IMAGe syndrome immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome [rgd.mcw.edu]
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Speech Disorder
Disorder and with or without Mental Retardation Foix Chavany Marie Syndrome Forney Robinson Pascoe Syndrome Forsythe-Wakeling Syndrome Foster-Kennedy syndrome Fountain Syndrome Fowler Christmas Chapple Syndrome fragile X syndrome Franceschini Vardeu [rgd.mcw.edu]