Disease Information for Tetrahydrobiopterin deficiency/Atypical PKU: Clinical Manifestations

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Signs & Symptoms
Hyperextensable Joints Infant
Red Hair/Freckled fair complexion
Dysphagia Swallowing Difficulties
Feeding/swallowing difficulties/infant
Excess salivation/hypersalivation
Infant/loss of sucking response
Sialorrhea/Ptyalism
Tongue Protrudes Infant
Delay Sitting Unsupported Infant
Hypotonia
Mouth Hangs Open Infant
Muscle tone/decreased
Muscles Soft/Doughy Infant
Rolling Over Delay Infant
Abnormal movements/involuntary
Autonomic instability/Variable BP/HR
Babkin infant sign/Abnormal
Behavior problems
Delayed crawling milestone/infant
Delayed speech/language development
Delayed walking milestone/child
Development Motor Skills (Milestones) Delayed
Developmental milestones delayed
Galant Infant reflex/Abnormal
Head Neck Floppy Infant Hypotonia Sign
Infant Head Support Delay
Infant Seizures
Mental Deficiency Child
Mental Slowing Deteriation
Mental/motor retardation in children/signs
Moro reflex Poor/Absent Infant
Movement or gait disorder/signs
Neurologic manifestations/signs
Newborn decreased spontaneous movement
Newborn Poor Sucking response/reflex
Palmar Grasp infant Reflex Abnormal
Primitive infant reflexes/Abnormal
Progressive neurological disorder/signs
Rooting infant sign/Abnormal
Seizures
Seizures/Children/recurrent
Slow Motor Development
Swimming infant reflex/Abnormal
Tonic Neck Infant reflex/Abnormal
Shallow Breathing Infant
Destructive Behavior
Psychomotor retardation
Delayed speech development/impediment
Typical Clinical Presentation
Presentation/Normal infant/Severe hereditary disease
Clinical Presentation & Variations
Presentation/Movement Disorder Ataxia Dementia Progressive
Presentation/Progressive Dementia
Presentation/Progressive dementia Child Infant
Disease Progression
Course/Chronic disorder
Course/Chronic only
Course/Eventual terminal event/death possible
Course/Progressive
Onset infancy/worst variant
Onset/Infancy
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