Human (54 sources):
2-3 toe syndactyly,
Abnormal foot morphology,
Adducted thumb,
Anteverted nares,
Camptodactyly,
Camptodactyly of finger,
Carious teeth,
Clinodactyly,
Cognitive impairment,
Cubitus valgus,
Depressed nasal bridge,
Dyspnea,
Elbow flexion contracture,
Facial palsy,
Feeding difficulties,
Feeding difficulties in infancy,
Flexion contracture,
Full cheeks,
High palate,
Hyperhidrosis,
Hypohidrosis,
Intellectual disability,
Keratitis,
Kyphoscoliosis,
Kyphosis,
Large face,
Limitation of joint mobility,
Limited elbow extension,
Long philtrum,
Low-set ears,
Lumbar hyperlordosis,
Malignant hyperthermia,
Micrognathia,
Narrow mouth,
Nasal speech,
Opisthotonus,
Pes planus,
Protruding ear,
Radial deviation of finger,
Recurrent fever,
Respiratory insufficiency,
Retrognathia,
Scoliosis,
Seizure,
Sensorimotor neuropathy,
Short neck,
Short palm,
Spasticity,
Sudden cardiac death,
Talipes equinovarus,
Tapered finger,
Thoracolumbar scoliosis,
Trismus,
Wide nose
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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.