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Symbol
Name
ID
Hspd1
heat shock protein 1 (chaperonin)
MGI:96242
Phenotype annotations related to nervous system
Darker colors indicate more annotations
Human Phenotypes
Secondary microcephaly
Lower limb spasticity
Spastic paraplegia
Progressive spasticity
Spastic gait
Leukodystrophy
Choreoathetosis
Head titubation
Abnormal pyramidal sign
Babinski sign
EEG abnormality
Abnormal nonverbal communicative behavior
Delayed speech and language development
Lack of spontaneous play
Impaired ability to form peer relationships
Autism
Inflexible adherence to routines
Motor stereotypy
Restrictive behavior
Intellectual disability
Intellectual disability, profound
Hyperreflexia
Hyperreflexia in upper limbs
Global developmental delay
Seizure
Impaired vibration sensation in the lower limbs
Disease(s) Associated with HSPD1
autistic disorder
hereditary spastic paraplegia 13
hypomyelinating leukodystrophy 4

Mouse Phenotypes
abnormal corticospinal tract morphology
abnormal motor neuron morphology
Availability Mouse Genotype
Hspd1Gt(OST171441)Lex/Hspd1+

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
04/23/2024
MGI 6.23
The Jackson Laboratory