Disease Information for Homocystinuria/homocystinemia: Clinical Manifestations

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Signs & Symptoms
Adolescent
Facial Malar flush/rash
Red/erythema skin discoloration
Blond hair patient
Erythroderma
Facial erythema
Facial rash
Fair complexion/population/blond
Scalp hair sparse/thin
Accelerated growth Child
Drooling
Palpable Liver/Hepatomegaly
Hyperextensible digits
Long arms
Long legs
Awkward Uncoordinated Child
Delayed speech/language development
Development Motor Skills (Milestones) Delayed
Developmental milestones delayed
Idiocy/signs
Intellectual Decline Children
Limb Ataxia
Limb ataxia/clumsiness child
Mental Deficiency Child
Moro Reflex unilateral Abnormal
Seizures
Slow Motor Development
Stroke Syndrome Child
Stroke Syndrome/Hereditary Disease
Flat AP chest diameter/sign
Arms too long for body
Genu valgus/knockneed/sign
Hyperextensible joints Laxity Instability
Long thin fingers/toes (arachnodactyly)
Skeletal problems/symptoms/signs
Sternum deformities
Tall child
Tall Adult
Tall/thin habitus/long body/Marfanoid
Blue eyed patient/sign
Eye symptoms/signs
Typical Clinical Presentation
Stroke syndrome kids/metabolic causes
Presentation/Coronary Heart Disease Young Age
Clinical Presentation & Variations
Presentation/Non diabetic Ketoacidosis Kids infants
Presentation/Arteriosclerosis Young Age
Presentation/Deep Vein Thrombosis Young Recurrent
Presentation/Myocardial Infarction in a Child
Presentation/Thrombophlebitis Hereditary Recurrent
Presentation/Mental Retardation Progressive
Presentation/Juvenile Cataract
Disease Progression
Course/Chronic disorder
Course/Chronic only
Course/Life-span decreased
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