Disease #03020 (SPAX2;SPG58 (ataxia, spastic, type 2, autosomal dominant (SPAX-2, spastic paraplegia (SPG-58))), OMIM:611302)

Official abbreviation SPAX2;SPG58
Name ataxia, spastic, type 2, autosomal dominant (SPAX-2, spastic paraplegia (SPG-58))
OMIM ID 611302
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 KIF1C
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

2 entries on 1 page. Showing entries 1 - 2.
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00095134 - PubMed: Novarino 2014, Journal: Novarino 2014 4-generation family, 2 affecteds sisters, unaffected heterozygous carrier parents, patient 803IV-1 F yes - - - - added by student Rachel van Loo - SPAX2;SPG58 Short stature (HP:0004322), Decreased head circumference (HP:0040195), Intention tremor (HP:0002080), Lower limb hyperreflexia (HP:0002395), Clonus (HP:0002169), Poor fine motor coordination (HP:0007010), Spasticity (HP:0001257), Toe walking (HP:0040083), Dysarthria (HP:0001260), No amyotrophy (-HP:0003202), No fasciculations (-HP:0002380), No abnormality of skeletal morphology (-HP:0011842), No sphincter disturbances (-HP:0002839), No decreased Vibration sense at ankles (-HP:0006938), No white matter abnormalities (-HP:0002500), No abnormality of the spinal cord (-HP:0002143), No intellectual disability (-HP:0001249), No sensory impairment (-HP:0003474) KIF1C KIF1C 1 2 Johan den Dunnen
00095135 - PubMed: Gaia Novarino 2014 sister of 803IV-1 F yes - - - - added by student Rachel van Loo - SPAX2;SPG58 Short stature (HP:0004322), Decreased head circumference (HP:0040195), Lower limb hyperreflexia (HP:0002395), Clonus (HP:0002169), Unsteady gate (HP:0002317), Dysarthria (HP:0001260), Toe walking (HP:0040083), Spasticity (HP:0001257), No amyotrophy (-HP:0003202), No fasciculations (-HP:0002380), No abnormality of skeletal morphology (-HP:0011842), No sphincter disturbances (-HP:0002839), No decreased Vibration sense at ankles (-HP:0006938), No white matter abnormalities (-HP:0002500), No abnormality of the spinal cord (-HP:0002143), No intellectual disability (-HP:0001249), No sensory impairment (-HP:0003474) KIF1C KIF1C 1 1 Johan den Dunnen
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