Human (56 sources):
Abnormal conjugate eye movement,
Abnormality of movement,
Abnormality of the neck,
Absent speech,
Aphasia,
Ataxia,
Athetosis,
Babinski sign,
Bilateral single transverse palmar creases,
Biparietal narrowing,
Bowel incontinence,
Camptodactyly of finger,
Cerebral calcification,
Clonus,
Delayed CNS myelination,
Drooling,
Dysarthria,
Elevated circulating thyroid-stimulating hormone concentration,
Feeding difficulties in infancy,
Flexion contracture,
Gait disturbance,
Generalized amyotrophy,
Hallux valgus,
Hyperreflexia,
Hypoplasia of the musculature,
Hypoplasia of the zygomatic bone,
Hypothyroidism,
Inability to walk,
Intellectual disability, progressive,
Intellectual disability, severe,
Irritability,
Joint stiffness,
Leukodystrophy,
Macrotia,
Microcephaly,
Narrow face,
Narrow forehead,
Neonatal hypotonia,
Open mouth,
Pectus excavatum,
Pes planus,
Prominent antihelix,
Proptosis,
Protruding ear,
Ptosis,
Rotary nystagmus,
Scoliosis,
Severe global developmental delay,
Skeletal muscle atrophy,
Spastic paraplegia,
Spastic tetraplegia,
Stahl ear,
Type I diabetes mellitus,
Underfolded superior helices,
Upslanted palpebral fissure,
Urinary incontinence
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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.