Disease Information for Phenylketonuria/PKU: Clinical Manifestations

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Signs & Symptoms
Blond hair patient
Body odor 'mousy'/unpleasant
Eczema rash
Excess Sweating Children
Fair complexion/population/blond
Hypopigmentation
Rash
Red Hair/Freckled fair complexion
Nausea
Projectile vomiting
Specific food/intolerance
Vomiting
Vomiting in infancy
Characteristic breath odor
Delay Sitting Unsupported Infant
Hypertonia
Rolling Over Delay Infant
Active reflexes
Awkward Uncoordinated Child
Delayed speech/language development
Delayed walking milestone/child
Development Motor Skills (Milestones) Delayed
Developmental milestones delayed
Hypereactive Child
Hypereactive/on exam
Hyperreflexia/DTRs increased
Idiocy/signs
Infant Seizures
Intellectual Decline Children
Limb Ataxia
Limb ataxia/clumsiness child
Mental Deficiency Child
Mental/motor retardation in children/signs
Regressing neuromotor/skills child/signs
Seizures
Seizures/Children/recurrent
Slow Motor Development
Psychomotor retardation
Short attention span
Characteristic odor/body/fluids/urine
Blue eyed patient/sign
Blue Sclera
Clinical Presentation & Variations
Presentation/Mental Retardation Progressive
Presentation/Retarded Hypereactive Fair child Seizures
Disease Progression
Course/Chronic disorder
Course/Chronic only
Course/Improves with time/growth/development
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