tpp1 Phenotypes

Phenotypes

XB-GENEPAGE-997324

Gene Symbol: tpp1 Gene Name: tripeptidyl peptidase I

Monarch Ortholog Phenotypes These phenotypes are associated with this gene with a has phenotype relation via Monarch.
Human (40 sources): Abnormal nervous system electrophysiology, Abnormality of the spleen, Ataxia, Babinski sign, Broad-based gait, Cerebellar atrophy, Cerebral atrophy, Clumsiness, Curvilinear intracellular accumulation of autofluorescent lipopigment storage material, Delayed speech and language development, Developmental regression, Difficulty walking, Diplopia, Dysarthria, Dysmetria, Dysmetric saccades, EMG: neuropathic changes, Gait ataxia, Hepatic failure, Horizontal nystagmus, Hypermetric saccades, Hyperreflexia, Impaired vibratory sensation, Increased extraneuronal autofluorescent lipopigment, Increased neuronal autofluorescent lipopigment, Limb ataxia, Microcephaly, Myoclonus, Nystagmus, Oculomotor apraxia, Postural tremor, Progressive cerebellar ataxia, Progressive gait ataxia, Progressive visual loss, Respiratory insufficiency, Retinal degeneration, Saccadic smooth pursuit, Scanning speech, Seizure, Undetectable electroretinogram [+]
Mouse (13 sources): Purkinje cell degeneration, abnormal Purkinje cell morphology, abnormal locomotor activation, abnormal lysosome morphology, abnormal motor capabilities/coordination/movement, audiogenic seizures, decreased vertical activity, hunched posture, increased thermal nociceptive threshold, neuronal cytoplasmic inclusions, premature death, short stride length, weakness [+]
View all ortholog results at Monarch