- Differential Diagnosis
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Differential Diagnosis For Prader-Willi syndrome - Rule Outs, Family history/Childhood CNS degenerating disease/death
List of current finding(s):
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- 11 possible diagnoses found
- Metabolic, Storage Disorders
- Fucosidosis (Anderson-Fabry)
- Tetrahydrobiopterin deficiency/Atypical PKU
- Hereditary, Familial, Genetic Disorders
- Infantile neuroaxonal dystrophy
- Ataxia/Oculomotor apraxia syndrome (9p13.3)
- MELAS Encephalopathy
- Alpers cerebral degeneration of infancy
- Cerebellar ataxia, congenital/hered.
- Hereditary mitochondrial disorder
- Laurence-Moon-Biedel syndrome
- Pelizaeus-Merzbacher disease