Disease #03081 (SPG39 (paraplegia, spastic, type 39 (SPG-39)), OMIM:612020)

Official abbreviation SPG39
Name paraplegia, spastic, type 39 (SPG-39)
OMIM ID 612020
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 1
Phenotype entries for this disease 1
Associated with 1 gene PNPLA6
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

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00403892 - family, 2 affected brothers - F yes Egypt - - - - - SPG39 7y-bilateral spastic lower limbs, tiptoe walking; spasticity both lower limbs, hyperreflexia except lost ankle reflex, pes cavus, stoking, glove hypesthesia; brother with similar condition, onset nearly same age PNPLA6 - - 2 Sherifa Ahmed Hamed
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