Human (72 sources):
Abnormality of skin morphology,
Abnormality of the nervous system,
Absent speech,
Absent thumbnail,
Anteverted nares,
Atonic seizure,
Autistic behavior,
Bilateral tonic-clonic seizure,
Broad finger,
Broad phalanx of the toes,
Cerebellar atrophy,
Choreoathetosis,
Cleft palate,
Delayed myelination,
Depressed nasal bridge,
Developmental regression,
Diffuse cerebral atrophy,
Diffuse white matter abnormalities,
Dyskinesia,
Dysphagia,
Dystonia,
EEG abnormality,
EEG with burst suppression,
EEG with spike-wave complexes,
Eczematoid dermatitis,
Encephalopathy,
Epileptic encephalopathy,
Episodic ataxia,
Failure to thrive,
Febrile seizure (within the age range of 3 months to 6 years),
Feeding difficulties,
Focal motor seizure,
Focal seizure with eyelid myoclonia,
Focal tonic seizure,
Generalized clonic seizure,
Generalized myoclonic seizure,
Generalized non-motor (absence) seizure,
Generalized tonic seizure,
Global developmental delay,
Hyperactivity,
Hyperreflexia,
Hypoplasia of the corpus callosum,
Hypotonia,
Hypsarrhythmia,
Infantile muscular hypotonia,
Infantile spasms,
Intellectual disability,
Lethargy,
Microcephaly,
Micropenis,
Motor stereotypy,
Myoclonus,
Pachygyria,
Poor head control,
Poor suck,
Precocious puberty,
Recurrent respiratory infections,
Renal dysplasia,
Respiratory distress,
Seizure,
Self-injurious behavior,
Short finger,
Sleep disturbance,
Sloping forehead,
Spasticity,
Strabismus,
Tremor,
Umbilical hernia,
Uni- and bilateral multifocal epileptiform discharges,
Ureterocele,
Ventricular septal defect,
obsolete Focal seizures, afebril
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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.