All diseases

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ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
02819 SPDRS salt and pepper developmental regression syndrome (SPDRS) 609056 DD 5 5 ST3GAL5 - 124/125 psychomotor delay, 71/125 microcephaly, 98/125 epilepsy, 80/125 dystonia/movement disorder, 16/125 sit/walk independently, 100/125 developmental stagnation/failure to thrive, 118/125 development delay, 41/125 hearing impairment, 38/125 vision impairment, 43/125 abnormal pigmentation, 90/125 irritability, 52/125 feeding difficulties, 30/125 gastrostomy feeding tube, 7/125 facial dysmorphic features, 19/125 scoliosis, 52/125 abnormal electroencephalographic
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