Human (112 sources):
Abnormal erythrocyte morphology,
Abnormal pyramidal sign,
Abnormal social behavior,
Abnormality of metabolism/homeostasis,
Abnormality of movement,
Absent speech,
Aggressive behavior,
Anxiety,
Apraxia,
Ataxia,
Attention deficit hyperactivity disorder,
Babinski sign,
Bilateral tonic-clonic seizure,
Brachydactyly,
Broad neck,
Cataract,
Central apnea,
Cerebral atrophy,
Cerebral white matter hypoplasia,
Chorea,
Choreoathetosis,
Cognitive impairment,
Communicating hydrocephalus,
Confusion,
Conjugated hyperbilirubinemia,
Cyanosis,
Decreased thalamic volume,
Delayed myelination,
Delayed speech and language development,
Depression,
Diplopia,
Dysarthria,
Dyskinesia,
Dyslexia,
Dystonia,
EEG abnormality,
EEG with polyspike wave complexes,
EEG with spike-wave complexes (2.5-3.5 Hz),
EEG with spike-wave complexes (>3.5 Hz),
Encephalopathy,
Episodic ataxia,
Extrapyramidal dyskinesia,
Failure to thrive,
Febrile seizure (within the age range of 3 months to 6 years),
Generalized hyperreflexia,
Generalized non-motor (absence) seizure,
Global developmental delay,
Growth delay,
Headache,
Hemiparesis,
Hemolytic anemia,
Hepatomegaly,
Hepatosplenomegaly,
Hyperactive deep tendon reflexes,
Hyperkalemia,
Hyperreflexia,
Hyperventilation,
Hypoglycorrhachia,
Impaired visuospatial constructive cognition,
Inability to walk,
Increased intracellular sodium,
Intellectual disability,
Intellectual disability, mild,
Intracerebral periventricular calcifications,
Involuntary movements,
Irritability,
Jaundice,
Jerky head movements,
Lethargy,
Limb myoclonus,
Low self esteem,
Lower limb spasticity,
Macrocephaly,
Macrotia,
Microcephaly,
Migraine,
Morphological abnormality of the pyramidal tract,
Muscle stiffness,
Myoclonic absence seizure,
Myoclonus,
Nystagmus,
Pallor,
Paralysis,
Paresthesia,
Paroxysmal dyskinesia,
Paroxysmal dystonia,
Paroxysmal involuntary eye movements,
Paroxysmal lethargy,
Progressive microcephaly,
Punding,
Recurrent infections,
Reticulocytosis,
Secondary microcephaly,
Seizure,
Short neck,
Short stature,
Short thorax,
Sleep disturbance,
Spastic paraplegia,
Spasticity,
Specific learning disability,
Splenomegaly,
Spontaneous hemolytic crises,
Status epilepticus,
Stomatocytosis,
Strabismus,
Torsion dystonia,
Tremor,
Typical absence seizure,
Uncontrolled eye movements,
Urinary incontinence,
Zonular cataract
[+]
|
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.