Disease #05860 (SPG83 (paraplegia, spastic, type 83, autosomal recessive (SPG83)), OMIM:619027)

Official abbreviation SPG83
Name paraplegia, spastic, type 83, autosomal recessive (SPG83)
OMIM ID 619027
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 2
Phenotype entries for this disease 2
Associated with 1 gene HPDL
Associated tissues -
Disease features -
Remarks -
Date created 2020-10-23 08:52:54 +02:00 (CEST)
Date last edited N/A


Individuals

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00404665 - - - M yes Egypt - - - - - SPG83 22-y male with progressive weakness and spasticity of both lower limbs, lower limbs' hyperreflexia, sustained clonus, intact abdominal reflex and Babinski sign. He intelligence was borderline/mild mental subnormality (IQ:70). HPDL HPDL 1 3 Sherifa Ahmed Hamed
00404666 - - - F yes Egypt - - - - - SPG83 16-y female with progressive weakness and spastic paraparesis. she had hypertonia, hyperreflexia and sustained clonus in both lower limbs, intact abdominal reflex and bilateral Babinski sign. She had intact sensation and cognition. HPDL HPDL 1 2 Sherifa Ahmed Hamed
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