Disease #03122 (SPG35 (paraplegia, spastic, autosomal recessive, type 35 (SPG-35)), OMIM:612319)

Official abbreviation SPG35
Name paraplegia, spastic, autosomal recessive, type 35 (SPG-35)
OMIM ID 612319
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 FA2H
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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00404049 - - - M yes Egypt - - - - - SPG35 52-y man with progressive spasticity and weakness of both lower limbs, cognitive impairment (mild/moderate) and slurred speech. FA2H FA2H 1 1 Sherifa Ahmed Hamed
00435460 154321 - - M likely Turkey - - - - - SPG35 Strabismus, Ataxia, Gait disturbance, Muscle weakness, Myoclonus, Brisk reflexes, Gait imbalance, Skeletal muscle atrophy, Myalgia, Babinski sign, Myoclonic spasms, Pontocerebellar atrophy, Hypoplasia of the pons, Low levels of vitamin D FA2H FA2H 1 1 Andreas Laner
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