Human (117 sources):
Abnormal cerebral white matter morphology,
Abnormal chorioretinal morphology,
Abnormal circulating phytanic acid concentration,
Abnormal head movements,
Abnormal palate morphology,
Abnormal pyramidal sign,
Abnormality of coagulation,
Abnormality of epiphysis morphology,
Abnormality of metabolism/homeostasis,
Abnormality of movement,
Abnormality of neuronal migration,
Abnormality of retinal pigmentation,
Abnormality of the face,
Abnormality of the liver,
Abnormality of the tongue,
Anteverted nares,
Arrhythmia,
Ataxia,
Behavioral abnormality,
Bilateral single transverse palmar creases,
Brushfield spots,
Cardiomyopathy,
Cataract,
Cerebellar atrophy,
Clitoral hypertrophy,
Cognitive impairment,
Colpocephaly,
Constriction of peripheral visual field,
Corneal opacity,
Cryptorchidism,
Decreased liver function,
Depressed nasal bridge,
Developmental regression,
Diffuse cerebellar atrophy,
Distal amyotrophy,
Distal sensory impairment,
Dolichocephaly,
Dysarthria,
Dysmetric saccades,
EEG abnormality,
Elevated levels of phytanic acid,
Epicanthus,
Epiphyseal stippling,
Facial palsy,
Failure to thrive,
Feeding difficulties in infancy,
Flat face,
Flat occiput,
Generalized hypotonia,
Generalized neonatal hypotonia,
Glaucoma,
Global developmental delay,
Hearing impairment,
Hepatic failure,
Hepatomegaly,
High forehead,
High palate,
Hydronephrosis,
Hyperreflexia,
Hyporeflexia,
Hypospadias,
Hypotonia,
Ichthyosis,
Impaired smooth pursuit,
Intellectual disability, mild,
Intention tremor,
Jaundice,
Limb ataxia,
Low-set ears,
Low-set, posteriorly rotated ears,
Macrocephaly,
Malabsorption,
Microcephaly,
Micrognathia,
Motor axonal neuropathy,
Multicystic kidney dysplasia,
Mydriasis,
Neonatal hypotonia,
Nyctalopia,
Nystagmus,
Optic atrophy,
Pachygyria,
Pes cavus,
Polymicrogyria,
Posterior embryotoxon,
Premature birth,
Primary adrenal insufficiency,
Profound global developmental delay,
Progressive cerebellar ataxia,
Progressive gait ataxia,
Progressive muscle weakness,
Ptosis,
Pyloric stenosis,
Reduced tendon reflexes,
Renal cyst,
Respiratory insufficiency,
Retinal dystrophy,
Rod-cone dystrophy,
Seizure,
Sensorineural hearing impairment,
Severe global developmental delay,
Severe muscular hypotonia,
Short stature,
Skeletal dysplasia,
Spasticity,
Strabismus,
Thickened nuchal skin fold,
Truncal ataxia,
Type II diabetes mellitus,
Underdeveloped supraorbital ridges,
Upslanted palpebral fissure,
Ventricular septal defect,
Very long chain fatty acid accumulation,
Visual impairment,
Wide anterior fontanel,
Wide nasal bridge,
obsolete External ear malformation
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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.