Disease #02640 (IAHSP (paralysis, spastic, hereditary, ascending, infantile-onset (IAHSP)), OMIM:607225)

Official abbreviation IAHSP
Name paralysis, spastic, hereditary, ascending, infantile-onset (IAHSP)
OMIM ID 607225
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 ALS2
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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00095126 - PubMed: Novarino 2014, Journal: Novarino 2014 5-generation family, 2 affected sisters, unaffected heterozygous carrier parents, Pat1598V2 F - - - - - added by student Seline Keijzer - IAHSP tiptoewalking, spasticity of lower limbs, can walk alone with unsteady gait (postoperation), increased deep tendon reflexes and positive clonus, abnormal gait, plantar reflex ERLIN1 ERLIN1 1 2 Johan den Dunnen
00095127 - PubMed: Novarino 2014, Journal: Novarino 2014 sister of 1598PatV4 F - - - - - added by student Seline Keijzer - IAHSP tiptoewalking, spasticity of lower limbs, can walk alone mild scissors gait, increased deep tendon reflexes and positive clonus, abnormal gait, plantar reflex ERLIN1 ERLIN1 1 1 Johan den Dunnen
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