Disease Information for Gangliosidosis, generalized (GM1): Clinical Manifestations

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Signs & Symptoms
Particular physiognomy/Odd looking kids
Broad flat nose/facies
Craniofacial Abnormalities/Congenital
Facial grimacing
Facies particular
Full Cheeks
Gargoylism-type facies
Long Philtrum/Facies
Prominent Maxilla
Cardiomegaly/Heart dilatation
Rash hand/foot areas
Stunted growth
Scrotal edema/swelling
Swelling of scrotum
Anorexia in Infant
Dysphagia Progressive
Failure to Thrive
Failure to Thrive Child
Failure to thrive/infant sign
Feeding/Apetite Problems Child
Feeding/swallowing difficulties/infant
Lax abdominal muscles
Enlarged alveolar process/teeth
Large tongue/macroglossia
Large/protruding jaw/prognathism
Hepatosplenomegaly
Palpable Liver/Hepatomegaly
Flexion contractures/extremities
Hypotonia
Newborn/Edema hands/feet dorsum
Proximal muscle weakness
Ataxia
Babinski's upgoing toes/bilateral
Dysarthria
Dystonia
Infant with exaggerated startle reaction
Mental Deficiency Child
Mental Slowing Deteriation
Motor slowing
Nystagmus
Progressive neurological disorder/signs
Psychomotor regression/infant/child
Seizures
Slow speech
Staggering Gait
Unable to tandem walk/straight line
Psychomotor retardation
Bossing forehead,infants
Dysmorphic dwarfism/short stature
Macrocephaly/Large head
Megalocephaly
Difficulty Talking
Snoring
Splenomegaly
Coarsened facial features
Dysmorphic appearance/face
Neonatal edema/anasarca
Short stature
Short stature Child
Bilateral Eyelid Edema
Cherry red spot/retinal sign
Corneal opacity
Periorbital edema/Puffy eyes
Retinal hemorrhages/sign
Retinal veins tortuous/distended
Vision Loss
True Vertigo Sign Confirmed
Typical Clinical Presentation
Presentation/Death in childhood
Clinical Presentation & Variations
Presentation/Multiple deformities newborn (odd look)
Presentation/Progressive dementia Child Infant
Presents/Myoclonus Epilepsy Mental Decline <20
Disease Progression
Course/Chronic disorder
Course/Chronic only
Course/Prognosis bad/usually
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