Human (61 sources):
Abnormal brainstem morphology,
Abnormal pyramidal sign,
Abnormality of extrapyramidal motor function,
Abnormality of the orbital region,
Aminoaciduria,
Angiokeratoma corporis diffusum,
Aplasia/Hypoplasia of the cerebellum,
Autism,
Axonal degeneration,
Cardiomegaly,
Cataract,
Cerebral atrophy,
Cerebral visual impairment,
Coarse facial features,
Cognitive impairment,
Depressed nasal bridge,
Developmental regression,
Distal muscle weakness,
Distal sensory impairment,
Distal sensory impairment of all modalities,
Dry skin,
Generalized amyotrophy,
Generalized hypotonia,
Global developmental delay,
Hearing impairment,
Hemiplegia/hemiparesis,
Hepatomegaly,
Hyperkeratosis,
Hyperreflexia,
Hypertrophic cardiomyopathy,
Hypotonia,
Increased urinary O-linked sialopeptides,
Intellectual disability,
Intellectual disability, mild,
Intellectual disability, severe,
Lip telangiectasia,
Lymphedema,
Muscle weakness,
Myoclonus,
Nystagmus,
Opacification of the corneal stroma,
Optic atrophy,
Osteopenia,
Papule,
Paresthesia,
Peripheral axonal neuropathy,
Peripheral neuropathy,
Seizure,
Sensorineural hearing impairment,
Sensory neuropathy,
Spasticity,
Strabismus,
Subcutaneous nodule,
Telangiectasia,
Telangiectasia of the oral mucosa,
Telangiectasia of the skin,
Thick lower lip vermilion,
Thick vermilion border,
Tinnitus,
Vertigo,
White mater abnormalities in the posterior periventricular region
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Gene expression phenotype annotations where the gene of interest has been
disrupted (manipulated) or is the gene assayed (assayed). Computed annotations are derived from
differential expression analysis from Xenbase processed GEO data with the criteria of a TPM >= 1,
FDR <= 0.05 and an absolute LogFC >= 2.