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Disease Information for Ataxia-telangiectasia: Clinical Manifestations

Signs & Symptoms: Particular physiognomy/Odd looking kids
: Craniofacial Abnormalities/Congenital; Facial telangiectatic rash/butterfly distribution; Facies particular; Mask-like facies; Sun exposed areas/face, arms/involved
: Bruising/Ecchymosis; Cutaneous manifestations; Gray Hair; Gray hair Childhood; Gray hair, premature; Localized Scleroderma Skin area; Silvery gray hair/child; Spider nevi/angiomata/Abdominal sign; Telangiectasia/Antecubital/Popliteal fossae; Telangiectasia/Ears/side of nose/eyes; Telangiectasias hand/forearms; Telangiectasias in Children; Telangiectasias, skin
: Drooling
: Abnormal movements/involuntary; Ataxia; Ataxia, Cerebellar type; Ataxia/Motor tremor type; Athetosis; Broad based/wide gait; Cerebellar movement disorder/signs; Cerebellar signs; Chorea signs; Choreoathetoid movement; Clumsiness/poor coordination; Delayed speech/language development; Development Motor Skills (Milestones) Delayed; Developmental milestones delayed; Dysarthria; Dysdiadochokinesia/Alternating failure; Gait disturbance/abnormality; Intellectual Decline Children; Limb Ataxia; Mental Deficiency Child; Mental/motor retardation in children/signs; Movement or gait disorder/signs; Myoclonus/Myoclonic jerks on exam; Neurologic manifestations/signs; Neurological symptoms/signs; Nystagmus; Oculomotor apraxia; Poor coordination legs/feet; Progressive neurological disorder/signs; Scanning speech; Slow Motor Development; Slow speech; Slurred speech; Slurred speech/Chronic; Staggering Gait; Unable to tandem walk/straight line
: Recurrent URI/Colds/LRI infections
: Psychomotor retardation
: Difficulty Talking; Tonsil hypoplasia/absent
: Falling; Multisystem disease/signs; Walking difficulties
: Double Image Vision Confirmed; Ocular telangiectasia; Opsoclonus/chaotic eye movements; Squint/sign
: True Vertigo Sign Confirmed
Clinical Presentation & Variations: Presentation/Multiple deformities newborn (odd look); Presentation/Recurrent Infections; Presentation/Recurrent respiratory infections
: Presentation/Ataxia in a Child Acute; Presentation/Mental Retardation Progressive; Presentation/Progressive Dementia
: Presentation/Recurrent pneumonia Child
: Presentation/Recurrent Sinusitis; Presentation/Resistant Sinusitis Poor control
Disease Progression: Course/Chronic disorder; Course/Chronic only; Course/Eventual terminal event/death possible; Course/Prognosis bad/usually; Course/Progressive; Onset/Childhood; Onset/Infancy

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