TaoMedAI/RareMedData huggingface dataset:
Gene: THOC2
Phenotype: Nystagmus (HP:0000639)
Associated disease: X-linked intellectual disability-short stature-overweight syndrome (ORPHA:457240)
Gene: THOC2
Phenotype: Truncal obesity (HP:0001956)
Associated disease: MENTAL RETARDATION, X-LINKED 12 (OMIM:300957)
Gene: THOC2
Phenotype: Short stature (HP:0004322)
Associated disease: MENTAL RETARDATION, X-LINKED 12 (OMIM:300957)
Gene: THOC2
Phenotype: Short stature (HP:0004322)
Associated disease: X-linked intellectual disability-short stature-overweight syndrome (ORPHA:457240)
Gene: THOC2
Phenotype: Upper limb spasticity (HP:0006986)
Associated disease: X-linked intellectual disability-short stature-overweight syndrome (ORPHA:457240)
Gene: THOC2
Phenotype: Anxiety (HP:0000739)
Associated disease: X-linked intellectual disability-short stature-overweight syndrome (ORPHA:457240)
Gene: THOC2
Phenotype: Anxiety (HP:0000739)
Associated disease: MENTAL RETARDATION, X-LINKED 12 (OMIM:300957)
Gene: THOC2
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: X-linked intellectual disability-short stature-overweight syndrome (ORPHA:457240)
Gene: THOC2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: MENTAL RETARDATION, X-LINKED 12 (OMIM:300957)
Gene: THOC2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: X-linked intellectual disability-short stature-overweight syndrome (ORPHA:457240)
Gene: THOC2
Phenotype: Self-mutilation (HP:0000742)
Associated disease: X-linked intellectual disability-short stature-overweight syndrome (ORPHA:457240)
Gene: THOC2
Phenotype: Depression (HP:0000716)
Associated disease: X-linked intellectual disability-short stature-overweight syndrome (ORPHA:457240)
Gene: THOC2
Phenotype: Depression (HP:0000716)
Associated disease: MENTAL RETARDATION, X-LINKED 12 (OMIM:300957)
Gene: THOC2
Phenotype: Autistic behavior (HP:0000729)
Associated disease: X-linked intellectual disability-short stature-overweight syndrome (ORPHA:457240)
Gene: THOC2
Phenotype: Atypical behavior (HP:0000708)
Associated disease: X-linked intellectual disability-short stature-overweight syndrome (ORPHA:457240)
Gene: THOC2
Phenotype: Atypical behavior (HP:0000708)
Associated disease: MENTAL RETARDATION, X-LINKED 12 (OMIM:300957)
Gene: THOC2
Phenotype: Cranial hyperostosis (HP:0004437)
Associated disease: X-linked intellectual disability-short stature-overweight syndrome (ORPHA:457240)
Gene: THOC2
Phenotype: Decreased response to growth hormone stimulation test (HP:0000824)
Associated disease: X-linked intellectual disability-short stature-overweight syndrome (ORPHA:457240)
Gene: THOC2
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: X-linked intellectual disability-short stature-overweight syndrome (ORPHA:457240)
Gene: THOC2
Phenotype: Increased body mass index (HP:0031418)
Associated disease: MENTAL RETARDATION, X-LINKED 12 (OMIM:300957)
Gene: THOC2
Phenotype: Microcephaly (HP:0000252)
Associated disease: MENTAL RETARDATION, X-LINKED 12 (OMIM:300957)
Gene: THOC2
Phenotype: Microcephaly (HP:0000252)
Associated disease: X-linked intellectual disability-short stature-overweight syndrome (ORPHA:457240)
Gene: THOC2
Phenotype: High palate (HP:0000218)
Associated disease: X-linked intellectual disability-short stature-overweight syndrome (ORPHA:457240)
Gene: THOC2
Phenotype: Overweight (HP:0025502)
Associated disease: X-linked intellectual disability-short stature-overweight syndrome (ORPHA:457240)
Gene: THOC2
Phenotype: Hip subluxation (HP:0030043)
Associated disease: MENTAL RETARDATION, X-LINKED 12 (OMIM:300957)
Gene: THOC2
Phenotype: Small for gestational age (HP:0001518)
Associated disease: MENTAL RETARDATION, X-LINKED 12 (OMIM:300957)
Gene: THOC2
Phenotype: Broad forehead (HP:0000337)
Associated disease: X-linked intellectual disability-short stature-overweight syndrome (ORPHA:457240)
Gene: THOC2
Phenotype: High forehead (HP:0000348)
Associated disease: X-linked intellectual disability-short stature-overweight syndrome (ORPHA:457240)
Gene: THOC2
Phenotype: Hypertelorism (HP:0000316)
Associated disease: X-linked intellectual disability-short stature-overweight syndrome (ORPHA:457240)
Gene: THOC2
Phenotype: Myocardial infarction (HP:0001658)
Associated disease: X-linked intellectual disability-short stature-overweight syndrome (ORPHA:457240)
Gene: THOC2
Phenotype: Premature birth (HP:0001622)
Associated disease: MENTAL RETARDATION, X-LINKED 12 (OMIM:300957)
Gene: THOC2
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: MENTAL RETARDATION, X-LINKED 12 (OMIM:300957)
Gene: THOC2
Phenotype: Macrotia (HP:0000400)
Associated disease: X-linked intellectual disability-short stature-overweight syndrome (ORPHA:457240)
Gene: THOC2
Phenotype: Strabismus (HP:0000486)
Associated disease: MENTAL RETARDATION, X-LINKED 12 (OMIM:300957)
Gene: THOC2
Phenotype: Strabismus (HP:0000486)
Associated disease: X-linked intellectual disability-short stature-overweight syndrome (ORPHA:457240)
Gene: THOC2
Phenotype: Microphallus (HP:0030260)
Associated disease: MENTAL RETARDATION, X-LINKED 12 (OMIM:300957)
Gene: THOC2
Phenotype: Visual impairment (HP:0000505)
Associated disease: MENTAL RETARDATION, X-LINKED 12 (OMIM:300957)
Gene: THOC2
Phenotype: Exotropia (HP:0000577)
Associated disease: MENTAL RETARDATION, X-LINKED 12 (OMIM:300957)
Gene: SELENON
Phenotype: Minicore myopathy (HP:0003789)
Associated disease: RIGID SPINE MUSCULAR DYSTROPHY 1 (OMIM:602771)
Gene: SELENON
Phenotype: Type 1 and type 2 muscle fiber minicore regions (HP:0003787)
Associated disease: RIGID SPINE MUSCULAR DYSTROPHY 1 (OMIM:602771)
Gene: SELENON
Phenotype: Poor head control (HP:0002421)
Associated disease: Classic MmD; Classic multiminicore myopathy; Classic multiminicore disease (ORPHA:324604)
Gene: SELENON
Phenotype: Poor head control (HP:0002421)
Associated disease: Rigid spine syndrome; Rigid spine congenital muscular dystrophy (ORPHA:97244)
Gene: SELENON
Phenotype: Poor head control (HP:0002421)
Associated disease: RIGID SPINE MUSCULAR DYSTROPHY 1 (OMIM:602771)
Gene: SELENON
Phenotype: Poor head control (HP:0002421)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: SELENON
Phenotype: Pelvic girdle muscle weakness (HP:0003749)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: SELENON
Phenotype: Neck flexor weakness (HP:0003722)
Associated disease: RIGID SPINE MUSCULAR DYSTROPHY 1 (OMIM:602771)
Gene: SELENON
Phenotype: Generalized amyotrophy (HP:0003700)
Associated disease: Classic MmD; Classic multiminicore myopathy; Classic multiminicore disease (ORPHA:324604)
Gene: SELENON
Phenotype: Generalized amyotrophy (HP:0003700)
Associated disease: RIGID SPINE MUSCULAR DYSTROPHY 1 (OMIM:602771)
Gene: SELENON
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: Classic MmD; Classic multiminicore myopathy; Classic multiminicore disease (ORPHA:324604)
Gene: SELENON
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: Rigid spine syndrome; Rigid spine congenital muscular dystrophy (ORPHA:97244)
Gene: SELENON
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: RIGID SPINE MUSCULAR DYSTROPHY 1 (OMIM:602771)
Gene: SELENON
Phenotype: Motor delay (HP:0001270)
Associated disease: RIGID SPINE MUSCULAR DYSTROPHY 1 (OMIM:602771)
Gene: SELENON
Phenotype: Motor delay (HP:0001270)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: SELENON
Phenotype: Areflexia (HP:0001284)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: SELENON
Phenotype: Hypotonia (HP:0001252)
Associated disease: RIGID SPINE MUSCULAR DYSTROPHY 1 (OMIM:602771)
Gene: SELENON
Phenotype: Hypotonia (HP:0001252)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: SELENON
Phenotype: Intellectual disability (HP:0001249)
Associated disease: RIGID SPINE MUSCULAR DYSTROPHY 1 (OMIM:602771)
Gene: SELENON
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: Rigid spine syndrome; Rigid spine congenital muscular dystrophy (ORPHA:97244)
Gene: SELENON
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Rigid spine syndrome; Rigid spine congenital muscular dystrophy (ORPHA:97244)
Gene: SELENON
Phenotype: Waddling gait (HP:0002515)
Associated disease: Rigid spine syndrome; Rigid spine congenital muscular dystrophy (ORPHA:97244)
Gene: SELENON
Phenotype: Loss of ambulation (HP:0002505)
Associated disease: RIGID SPINE MUSCULAR DYSTROPHY 1 (OMIM:602771)
Gene: SELENON
Phenotype: Type 1 muscle fiber predominance (HP:0003803)
Associated disease: RIGID SPINE MUSCULAR DYSTROPHY 1 (OMIM:602771)
Gene: SELENON
Phenotype: Congenital hip dislocation (HP:0001374)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: SELENON
Phenotype: Flexion contracture (HP:0001371)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: SELENON
Phenotype: Flexion contracture (HP:0001371)
Associated disease: RIGID SPINE MUSCULAR DYSTROPHY 1 (OMIM:602771)
Gene: SELENON
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: Classic MmD; Classic multiminicore myopathy; Classic multiminicore disease (ORPHA:324604)
Gene: SELENON
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RIGID SPINE MUSCULAR DYSTROPHY 1 (OMIM:602771)
Gene: SELENON
Phenotype: Scoliosis (HP:0002650)
Associated disease: Classic MmD; Classic multiminicore myopathy; Classic multiminicore disease (ORPHA:324604)
Gene: SELENON
Phenotype: Scoliosis (HP:0002650)
Associated disease: Rigid spine syndrome; Rigid spine congenital muscular dystrophy (ORPHA:97244)
Gene: SELENON
Phenotype: Scoliosis (HP:0002650)
Associated disease: RIGID SPINE MUSCULAR DYSTROPHY 1 (OMIM:602771)
Gene: SELENON
Phenotype: Scoliosis (HP:0002650)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: SELENON
Phenotype: Reduced tendon reflexes (HP:0001315)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: SELENON
Phenotype: Reduced vital capacity (HP:0002792)
Associated disease: RIGID SPINE MUSCULAR DYSTROPHY 1 (OMIM:602771)
Gene: SELENON
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: SELENON
Phenotype: Respiratory insufficiency due to muscle weakness (HP:0002747)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: SELENON
Phenotype: Limited neck flexion (HP:0005991)
Associated disease: RIGID SPINE MUSCULAR DYSTROPHY 1 (OMIM:602771)
Gene: SELENON
Phenotype: Limited neck flexion (HP:0005991)
Associated disease: Classic MmD; Classic multiminicore myopathy; Classic multiminicore disease (ORPHA:324604)
Gene: SELENON
Phenotype: Axial muscle weakness (HP:0003327)
Associated disease: RIGID SPINE MUSCULAR DYSTROPHY 1 (OMIM:602771)
Gene: SELENON
Phenotype: Axial muscle weakness (HP:0003327)
Associated disease: Classic MmD; Classic multiminicore myopathy; Classic multiminicore disease (ORPHA:324604)
Gene: SELENON
Phenotype: Dysphagia (HP:0002015)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: SELENON
Phenotype: Hyperlordosis (HP:0003307)
Associated disease: Rigid spine syndrome; Rigid spine congenital muscular dystrophy (ORPHA:97244)
Gene: SELENON
Phenotype: Hyperlordosis (HP:0003307)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: SELENON
Phenotype: Spinal rigidity (HP:0003306)
Associated disease: Classic MmD; Classic multiminicore myopathy; Classic multiminicore disease (ORPHA:324604)
Gene: SELENON
Phenotype: Spinal rigidity (HP:0003306)
Associated disease: Rigid spine syndrome; Rigid spine congenital muscular dystrophy (ORPHA:97244)
Gene: SELENON
Phenotype: Spinal rigidity (HP:0003306)
Associated disease: RIGID SPINE MUSCULAR DYSTROPHY 1 (OMIM:602771)
Gene: SELENON
Phenotype: Progressive muscle weakness (HP:0003323)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: SELENON
Phenotype: Generalized muscle weakness (HP:0003324)
Associated disease: RIGID SPINE MUSCULAR DYSTROPHY 1 (OMIM:602771)
Gene: SELENON
Phenotype: Generalized muscle weakness (HP:0003324)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: SELENON
Phenotype: Type 1 muscle fiber atrophy (HP:0011807)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: SELENON
Phenotype: Abnormality of the respiratory system (HP:0002086)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: SELENON
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: Rigid spine syndrome; Rigid spine congenital muscular dystrophy (ORPHA:97244)
Gene: SELENON
Phenotype: Pneumonia (HP:0002090)
Associated disease: Rigid spine syndrome; Rigid spine congenital muscular dystrophy (ORPHA:97244)
Gene: SELENON
Phenotype: Restrictive ventilatory defect (HP:0002091)
Associated disease: Classic MmD; Classic multiminicore myopathy; Classic multiminicore disease (ORPHA:324604)
Gene: SELENON
Phenotype: Restrictive ventilatory defect (HP:0002091)
Associated disease: RIGID SPINE MUSCULAR DYSTROPHY 1 (OMIM:602771)
Gene: SELENON
Phenotype: Gowers sign (HP:0003391)
Associated disease: Rigid spine syndrome; Rigid spine congenital muscular dystrophy (ORPHA:97244)
Gene: SELENON
Phenotype: Myopathic facies (HP:0002058)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: SELENON
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: SELENON
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: Classic MmD; Classic multiminicore myopathy; Classic multiminicore disease (ORPHA:324604)
Gene: SELENON
Phenotype: Abnormal skeletal morphology (HP:0011842)
Associated disease: Rigid spine syndrome; Rigid spine congenital muscular dystrophy (ORPHA:97244)
Gene: SELENON
Phenotype: Abnormal skeletal morphology (HP:0011842)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: SELENON
Phenotype: Infantile onset (HP:0003593)
Associated disease: RIGID SPINE MUSCULAR DYSTROPHY 1 (OMIM:602771)
Gene: SELENON
Phenotype: Congenital onset (HP:0003577)
Associated disease: RIGID SPINE MUSCULAR DYSTROPHY 1 (OMIM:602771)
Gene: SELENON
Phenotype: Shoulder girdle muscle weakness (HP:0003547)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: SELENON
Phenotype: Intercostal muscle weakness (HP:0004878)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: SELENON
Phenotype: Muscular dystrophy (HP:0003560)
Associated disease: Classic MmD; Classic multiminicore myopathy; Classic multiminicore disease (ORPHA:324604)
Gene: SELENON
Phenotype: Muscular dystrophy (HP:0003560)
Associated disease: RIGID SPINE MUSCULAR DYSTROPHY 1 (OMIM:602771)
Gene: SELENON
Phenotype: Intermittent episodes of respiratory insufficiency due to muscle weakness (HP:0004889)
Associated disease: Classic MmD; Classic multiminicore myopathy; Classic multiminicore disease (ORPHA:324604)
Gene: SELENON
Phenotype: Increased variability in muscle fiber diameter (HP:0003557)
Associated disease: RIGID SPINE MUSCULAR DYSTROPHY 1 (OMIM:602771)
Gene: SELENON
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: SELENON
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: SELENON
Phenotype: Facial palsy (HP:0010628)
Associated disease: RIGID SPINE MUSCULAR DYSTROPHY 1 (OMIM:602771)
Gene: SELENON
Phenotype: Aspiration pneumonia (HP:0011951)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: SELENON
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: SELENON
Phenotype: Centrally nucleated skeletal muscle fibers (HP:0003687)
Associated disease: RIGID SPINE MUSCULAR DYSTROPHY 1 (OMIM:602771)
Gene: SELENON
Phenotype: Headache (HP:0002315)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: SELENON
Phenotype: Neonatal onset (HP:0003623)
Associated disease: RIGID SPINE MUSCULAR DYSTROPHY 1 (OMIM:602771)
Gene: SELENON
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: SELENON
Phenotype: Increased muscle lipid content (HP:0009058)
Associated disease: Classic MmD; Classic multiminicore myopathy; Classic multiminicore disease (ORPHA:324604)
Gene: SELENON
Phenotype: Foot dorsiflexor weakness (HP:0009027)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: SELENON
Phenotype: Dental crowding (HP:0000678)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: SELENON
Phenotype: Hypoplasia of the musculature (HP:0009004)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: SELENON
Phenotype: Decreased body weight (HP:0004325)
Associated disease: RIGID SPINE MUSCULAR DYSTROPHY 1 (OMIM:602771)
Gene: SELENON
Phenotype: Short stature (HP:0004322)
Associated disease: Classic MmD; Classic multiminicore myopathy; Classic multiminicore disease (ORPHA:324604)
Gene: SELENON
Phenotype: Short stature (HP:0004322)
Associated disease: RIGID SPINE MUSCULAR DYSTROPHY 1 (OMIM:602771)
Gene: SELENON
Phenotype: Hamstring contractures (HP:0003089)
Associated disease: Rigid spine syndrome; Rigid spine congenital muscular dystrophy (ORPHA:97244)
Gene: SELENON
Phenotype: Poor appetite (HP:0004396)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: SELENON
Phenotype: Weakness of muscles of respiration (HP:0004347)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: SELENON
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: RIGID SPINE MUSCULAR DYSTROPHY 1 (OMIM:602771)
Gene: SELENON
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: SELENON
Phenotype: Nasogastric tube feeding in infancy (HP:0011470)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: SELENON
Phenotype: Flexion contracture of finger (HP:0012785)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: SELENON
Phenotype: Myopathy (HP:0003198)
Associated disease: Rigid spine syndrome; Rigid spine congenital muscular dystrophy (ORPHA:97244)
Gene: SELENON
Phenotype: Abnormality on pulmonary function testing (HP:0030878)
Associated disease: Rigid spine syndrome; Rigid spine congenital muscular dystrophy (ORPHA:97244)
Gene: SELENON
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: Rigid spine syndrome; Rigid spine congenital muscular dystrophy (ORPHA:97244)
Gene: SELENON
Phenotype: Hip contracture (HP:0003273)
Associated disease: Rigid spine syndrome; Rigid spine congenital muscular dystrophy (ORPHA:97244)
Gene: SELENON
Phenotype: Hip contracture (HP:0003273)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: SELENON
Phenotype: Muscle fiber atrophy (HP:0100295)
Associated disease: Classic MmD; Classic multiminicore myopathy; Classic multiminicore disease (ORPHA:324604)
Gene: SELENON
Phenotype: Increased endomysial connective tissue (HP:0100297)
Associated disease: RIGID SPINE MUSCULAR DYSTROPHY 1 (OMIM:602771)
Gene: SELENON
Phenotype: Long face (HP:0000276)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: SELENON
Phenotype: Ankle flexion contracture (HP:0006466)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: SELENON
Phenotype: Multiple joint contractures (HP:0002828)
Associated disease: Classic MmD; Classic multiminicore myopathy; Classic multiminicore disease (ORPHA:324604)
Gene: SELENON
Phenotype: Absent muscle fiber merosin (HP:0030091)
Associated disease: Classic MmD; Classic multiminicore myopathy; Classic multiminicore disease (ORPHA:324604)
Gene: SELENON
Phenotype: Knee flexion contracture (HP:0006380)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: SELENON
Phenotype: Abnormal rib cage morphology (HP:0001547)
Associated disease: RIGID SPINE MUSCULAR DYSTROPHY 1 (OMIM:602771)
Gene: SELENON
Phenotype: Respiratory failure (HP:0002878)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: SELENON
Phenotype: High palate (HP:0000218)
Associated disease: Classic MmD; Classic multiminicore myopathy; Classic multiminicore disease (ORPHA:324604)
Gene: SELENON
Phenotype: High palate (HP:0000218)
Associated disease: RIGID SPINE MUSCULAR DYSTROPHY 1 (OMIM:602771)
Gene: SELENON
Phenotype: High palate (HP:0000218)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: SELENON
Phenotype: Nocturnal hypoventilation (HP:0002877)
Associated disease: RIGID SPINE MUSCULAR DYSTROPHY 1 (OMIM:602771)
Gene: SELENON
Phenotype: Nocturnal hypoventilation (HP:0002877)
Associated disease: Classic MmD; Classic multiminicore myopathy; Classic multiminicore disease (ORPHA:324604)
Gene: SELENON
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: SELENON
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: SELENON
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Classic MmD; Classic multiminicore myopathy; Classic multiminicore disease (ORPHA:324604)
Gene: SELENON
Phenotype: Failure to thrive (HP:0001508)
Associated disease: RIGID SPINE MUSCULAR DYSTROPHY 1 (OMIM:602771)
Gene: SELENON
Phenotype: Failure to thrive (HP:0001508)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: SELENON
Phenotype: Fatigue (HP:0012378)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: SELENON
Phenotype: Impaired mastication (HP:0005216)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: SELENON
Phenotype: Hoarse voice (HP:0001609)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: SELENON
Phenotype: Fatigable weakness of bulbar muscles (HP:0030192)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: SELENON
Phenotype: Hypernasal speech (HP:0001611)
Associated disease: RIGID SPINE MUSCULAR DYSTROPHY 1 (OMIM:602771)
Gene: SELENON
Phenotype: Right ventricular hypertrophy (HP:0001667)
Associated disease: Classic MmD; Classic multiminicore myopathy; Classic multiminicore disease (ORPHA:324604)
Gene: SELENON
Phenotype: Micrognathia (HP:0000347)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: SELENON
Phenotype: Cor pulmonale (HP:0001648)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: SELENON
Phenotype: Elbow flexion contracture (HP:0002987)
Associated disease: Rigid spine syndrome; Rigid spine congenital muscular dystrophy (ORPHA:97244)
Gene: SELENON
Phenotype: Elbow flexion contracture (HP:0002987)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: SELENON
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: CFTDM; Congenital fiber-type disproportion myopathy (ORPHA:2020)
Gene: SELENON
Phenotype: Abnormally high-pitched voice (HP:0001620)
Associated disease: Classic MmD; Classic multiminicore myopathy; Classic multiminicore disease (ORPHA:324604)
Gene: SELENON
Phenotype: Abnormally high-pitched voice (HP:0001620)
Associated disease: RIGID SPINE MUSCULAR DYSTROPHY 1 (OMIM:602771)