Phenotypes for disease #02501 (SPG11 (paraplegia, spastic, autosomal recessive, type 11 (SPG-11)), OMIM:604360)

37 entries on 1 page. Showing entries 1 - 37.
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AscendingPhenotype ID     
Phenotype details     
Diagnosis/Initial     
Diagnosis/Definite     
Inheritance     
Age/Examination     
Age/Diagnosis     
Age/Onset     
Phenotype/Onset     
Protein     
Owner     
Individual ID     
0000029697 - - - Familial, autosomal recessive - - - - - David Lynch 00039356
0000029698 - - - Familial, autosomal recessive - - - - - David Lynch 00039357
0000035829 - - - Unknown - - - - - Johan den Dunnen 00046996
0000035830 - - - Unknown - - - - - Johan den Dunnen 00046997
0000035831 - - - Unknown - - - - - Johan den Dunnen 00046998
0000035832 - - - Unknown - - - - - Johan den Dunnen 00046999
0000045731 spastic paraplegia, ataxia, cognitive deficit, atrophy of the corpus callosum, motor demyelination mixed with axonal degeneration - - Familial, autosomal recessive 29y - 24y spastic ataxia - Mahmoud Koko 00059134
0000045736 spastic paraplegia, ataxia, dysarthria - - Familial, autosomal recessive 29y - 17y - - Mahmoud Koko 00059230
0000045738 spastic paraplegia, muscle wasting, ataxia, dysarthria, hypokinesia, rigidity - - Familial, autosomal recessive 23y - 13y spastic paraplegia - Mahmoud Koko 00059232
0000046764 - - - Familial, autosomal recessive - - - - - Johan den Dunnen 00059264
0000046765 - - - Familial, autosomal recessive - - - - - Johan den Dunnen 00059265
0000046766 - - - Familial, autosomal recessive - - - - - Johan den Dunnen 00059266
0000046767 - - - Familial, autosomal recessive - - - - - Johan den Dunnen 00059267
0000046768 - - - Familial, autosomal recessive - - - - - Johan den Dunnen 00059268
0000046769 - - - Familial, autosomal recessive - - - - - Johan den Dunnen 00059269
0000046770 - - - Familial, autosomal recessive - - - - - Johan den Dunnen 00059270
0000046771 - - - Familial, autosomal recessive - - - - - Johan den Dunnen 00059271
0000046772 - - - Familial, autosomal recessive - - - - - Johan den Dunnen 00059272
0000046773 - - - Familial, autosomal recessive - - - - - Johan den Dunnen 00059273
0000046774 - - - Familial, autosomal recessive - - - - - Johan den Dunnen 00059275
0000046775 - - - Familial, autosomal recessive - - - - - Johan den Dunnen 00059274
0000060648 Spastic paraplegia 11, autosomal recessive (OMIM:604360) - - Familial, autosomal recessive - - - - - Daniel Trujillano 00081079
0000257297 Neuroregression following viral illness, hypotonia, normal deep tendon reflexes - - Familial, autosomal recessive - - - - - Anju Shukla 00361901
0000268037 Spastic paraparesis and paraplegia - 30y Familial, autosomal recessive - - - - - Andreas Laner 00372760
0000296568 delayed mental and physical development, spastic lower limbs, hyperreflexia, Babinski sign, intact abdominal reflex, pes cavus; brother with similar condition HSP HSP Familial, autosomal recessive 25y - 07y 7y - Sherifa Ahmed Hamed 00403889
0000296570 11y-developed illness, spastic lower limbs, hyperreflexia, intact abdominal reflexes, Babinski sign, bilateral pes cavus; two older sisters with similar condition HSP SPG11 Familial, autosomal recessive 20y 15y 11y - - Sherifa Ahmed Hamed 00403897
0000296575 spastic lower limbs, cerebellar ataxia, pes cavus HSP SPG11 Familial, autosomal recessive 38y 22y - 18y - Sherifa Ahmed Hamed 00403909
0000296578 Progressive spastic paraparesis HSP SPG11 Familial, autosomal recessive 42y 33y 21y - - Sherifa Ahmed Hamed 00403923
0000296580 Progressive spastic paraparesis HSP SPG11 Familial, autosomal recessive 32y 28y 16y - - Sherifa Ahmed Hamed 00403925
0000296640 22-y with progressive spastic paraparesis, cerebellar ataxia, peripheral neuropathy and pes cavus. Nerve conduction velocity study showed demyelinating peripheral neuropathy Cerebellar and sensory ataxia, spastic paraparesis and peripheral neuropathy SPG11 Familial, autosomal recessive 22y - 13y - - Sherifa Ahmed Hamed 00404047
0000296641 16-y male with progressive cerebellar ataxia and peripheral neuropathy. Neurological examination revealed intention tremors, staccato speech, pes cavus, stocking and glove hypesthesia, exaggerated knee reflex and Babinski sign SCA SPG11 Familial, autosomal recessive 16y - 12y SCA - Sherifa Ahmed Hamed 00404048
0000296651 36-y man with progressive spastic paraparesis. Neurological examination showed spastic lower limbs, pes cavus and peripheral neuropathy. Nerve conduction velocity study showed demyelinating peripheral Neuropathy HSP SPG11 Familial, autosomal recessive 36y - 16y - - Sherifa Ahmed Hamed 00404058
0000296655 20-y female with progressive spastic paraparesis, pes cavus, peripheral neuropathy, mild/moderate mental subnormality. 15y - Familial, autosomal recessive 20y - 15y - - Sherifa Ahmed Hamed 00404063
0000296688 34-y female with progressive spasticity in both lower limbs and cognitive deterioration and stocking and glove hypesthesia. HSP SPG11 Familial, autosomal recessive 34y - 16y - - Sherifa Ahmed Hamed 00404099
0000296689 42-y man with progressive spastic lower limbs, slurred speech and bilateral pes cavus. HSP SPG11 Familial, autosomal recessive 42y - 28y - - Sherifa Ahmed Hamed 00404100
0000296690 18-y male with progressive weakness and spasticity of both lower limbs, cognitive deterioration, limb ataxia, peripheral neuropathy and bilateral pes cavus. He had history of delayed mental and motor development. SCA; HSP SPG11 Familial, autosomal recessive 18y - 11y - - Sherifa Ahmed Hamed 00404101
0000296691 38-y woman with progressive weakness and spasticity of both lower limbs, mild hand weakness and bilateral pes cavus. HSP SPG11 Unknown 38y - 22y - - Sherifa Ahmed Hamed 00404102
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