TaoMedAI/RareMedData huggingface dataset:
Gene: FMO3
Phenotype: Hypertension (HP:0000822)
Associated disease: TRIMETHYLAMINURIA (OMIM:602079)
Gene: FMO3
Phenotype: Recurrent pneumonia (HP:0006532)
Associated disease: TRIMETHYLAMINURIA (OMIM:602079)
Gene: FMO3
Phenotype: Abnormal negative emotional state (HP:0031467)
Associated disease: TMAU; Severe primary trimethylaminuria (ORPHA:468726)
Gene: FMO3
Phenotype: Low self-esteem (HP:0031469)
Associated disease: TMAU; Severe primary trimethylaminuria (ORPHA:468726)
Gene: FMO3
Phenotype: Tachycardia (HP:0001649)
Associated disease: TRIMETHYLAMINURIA (OMIM:602079)
Gene: FMO3
Phenotype: Splenomegaly (HP:0001744)
Associated disease: TRIMETHYLAMINURIA (OMIM:602079)
Gene: FMO3
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: TRIMETHYLAMINURIA (OMIM:602079)
Gene: FMR1
Phenotype: Saccadic smooth pursuit (HP:0001152)
Associated disease: FRAGILE X TREMOR/ATAXIA SYNDROME (OMIM:300623)
Gene: FMR1
Phenotype: Abnormal head movements (HP:0002457)
Associated disease: FRAGILE X SYNDROME (OMIM:300624)
Gene: FMR1
Phenotype: Congenital macroorchidism (HP:0008640)
Associated disease: FRAGILE X SYNDROME (OMIM:300624)
Gene: FMR1
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: FRAGILE X TREMOR/ATAXIA SYNDROME (OMIM:300623)
Gene: FMR1
Phenotype: Mental deterioration (HP:0001268)
Associated disease: FRAGILE X TREMOR/ATAXIA SYNDROME (OMIM:300623)
Gene: FMR1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: FXTAS syndrome; Fragile X-associated tremor/ataxia syndrome (ORPHA:93256)
Gene: FMR1
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: Dup(X)(q27.3q28); Trisomy Xq27.3q28; Xq27.3q28 duplication syndrome; Trisomy Xq27.3-q28; Xq27.3-q28 microduplication syndrome (ORPHA:261483)
Gene: FMR1
Phenotype: Seizure (HP:0001250)
Associated disease: FRAGILE X SYNDROME (OMIM:300624)
Gene: FMR1
Phenotype: Seizure (HP:0001250)
Associated disease: Martin-Bell syndrome; FXS; FraX syndrome; Fragile X syndrome; FRAXA syndrome (ORPHA:908)
Gene: FMR1
Phenotype: Hypotonia (HP:0001252)
Associated disease: Dup(X)(q27.3q28); Trisomy Xq27.3q28; Xq27.3q28 duplication syndrome; Trisomy Xq27.3-q28; Xq27.3-q28 microduplication syndrome (ORPHA:261483)
Gene: FMR1
Phenotype: Hypotonia (HP:0001252)
Associated disease: Martin-Bell syndrome; FXS; FraX syndrome; Fragile X syndrome; FRAXA syndrome (ORPHA:908)
Gene: FMR1
Phenotype: Ataxia (HP:0001251)
Associated disease: FXTAS syndrome; Fragile X-associated tremor/ataxia syndrome (ORPHA:93256)
Gene: FMR1
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: FRAGILE X TREMOR/ATAXIA SYNDROME (OMIM:300623)
Gene: FMR1
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: FXTAS syndrome; Fragile X-associated tremor/ataxia syndrome (ORPHA:93256)
Gene: FMR1
Phenotype: Dysarthria (HP:0001260)
Associated disease: FRAGILE X TREMOR/ATAXIA SYNDROME (OMIM:300623)
Gene: FMR1
Phenotype: Dysarthria (HP:0001260)
Associated disease: FXTAS syndrome; Fragile X-associated tremor/ataxia syndrome (ORPHA:93256)
Gene: FMR1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Dup(X)(q27.3q28); Trisomy Xq27.3q28; Xq27.3q28 duplication syndrome; Trisomy Xq27.3-q28; Xq27.3-q28 microduplication syndrome (ORPHA:261483)
Gene: FMR1
Phenotype: Obsessive-compulsive trait (HP:0008770)
Associated disease: FRAGILE X TREMOR/ATAXIA SYNDROME (OMIM:300623)
Gene: FMR1
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: Dup(X)(q27.3q28); Trisomy Xq27.3q28; Xq27.3q28 duplication syndrome; Trisomy Xq27.3-q28; Xq27.3-q28 microduplication syndrome (ORPHA:261483)
Gene: FMR1
Phenotype: Lower limb muscle weakness (HP:0007340)
Associated disease: FXTAS syndrome; Fragile X-associated tremor/ataxia syndrome (ORPHA:93256)
Gene: FMR1
Phenotype: Typified by incomplete penetrance (HP:0003829)
Associated disease: FRAGILE X SYNDROME (OMIM:300624)
Gene: FMR1
Phenotype: Diffuse cerebral atrophy (HP:0002506)
Associated disease: FRAGILE X TREMOR/ATAXIA SYNDROME (OMIM:300623)
Gene: FMR1
Phenotype: Metacarpophalangeal joint hyperextensibility (HP:0006099)
Associated disease: FRAGILE X SYNDROME (OMIM:300624)
Gene: FMR1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: FRAGILE X SYNDROME (OMIM:300624)
Gene: FMR1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Martin-Bell syndrome; FXS; FraX syndrome; Fragile X syndrome; FRAXA syndrome (ORPHA:908)
Gene: FMR1
Phenotype: Macroorchidism (HP:0000053)
Associated disease: Martin-Bell syndrome; FXS; FraX syndrome; Fragile X syndrome; FRAXA syndrome (ORPHA:908)
Gene: FMR1
Phenotype: Urinary incontinence (HP:0000020)
Associated disease: FRAGILE X TREMOR/ATAXIA SYNDROME (OMIM:300623)
Gene: FMR1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Dup(X)(q27.3q28); Trisomy Xq27.3q28; Xq27.3q28 duplication syndrome; Trisomy Xq27.3-q28; Xq27.3-q28 microduplication syndrome (ORPHA:261483)
Gene: FMR1
Phenotype: Ubiquitin-positive cerebral inclusion bodies (HP:0012083)
Associated disease: FXTAS syndrome; Fragile X-associated tremor/ataxia syndrome (ORPHA:93256)
Gene: FMR1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: FXTAS syndrome; Fragile X-associated tremor/ataxia syndrome (ORPHA:93256)
Gene: FMR1
Phenotype: Dysmetria (HP:0001310)
Associated disease: FXTAS syndrome; Fragile X-associated tremor/ataxia syndrome (ORPHA:93256)
Gene: FMR1
Phenotype: Dysmetria (HP:0001310)
Associated disease: FRAGILE X TREMOR/ATAXIA SYNDROME (OMIM:300623)
Gene: FMR1
Phenotype: Scoliosis (HP:0002650)
Associated disease: FRAGILE X SYNDROME (OMIM:300624)
Gene: FMR1
Phenotype: Scoliosis (HP:0002650)
Associated disease: Martin-Bell syndrome; FXS; FraX syndrome; Fragile X syndrome; FRAXA syndrome (ORPHA:908)
Gene: FMR1
Phenotype: Hypotension (HP:0002615)
Associated disease: FXTAS syndrome; Fragile X-associated tremor/ataxia syndrome (ORPHA:93256)
Gene: FMR1
Phenotype: Parkinsonism (HP:0001300)
Associated disease: FXTAS syndrome; Fragile X-associated tremor/ataxia syndrome (ORPHA:93256)
Gene: FMR1
Phenotype: Parkinsonism (HP:0001300)
Associated disease: FRAGILE X TREMOR/ATAXIA SYNDROME (OMIM:300623)
Gene: FMR1
Phenotype: Bowel incontinence (HP:0002607)
Associated disease: FXTAS syndrome; Fragile X-associated tremor/ataxia syndrome (ORPHA:93256)
Gene: FMR1
Phenotype: Bowel incontinence (HP:0002607)
Associated disease: FRAGILE X TREMOR/ATAXIA SYNDROME (OMIM:300623)
Gene: FMR1
Phenotype: Self-biting (HP:0012169)
Associated disease: FRAGILE X SYNDROME (OMIM:300624)
Gene: FMR1
Phenotype: Hypogonadism (HP:0000135)
Associated disease: Dup(X)(q27.3q28); Trisomy Xq27.3q28; Xq27.3q28 duplication syndrome; Trisomy Xq27.3-q28; Xq27.3-q28 microduplication syndrome (ORPHA:261483)
Gene: FMR1
Phenotype: X-linked dominant inheritance (HP:0001423)
Associated disease: FRAGILE X TREMOR/ATAXIA SYNDROME (OMIM:300623)
Gene: FMR1
Phenotype: X-linked dominant inheritance (HP:0001423)
Associated disease: FRAGILE X SYNDROME (OMIM:300624)
Gene: FMR1
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: Dup(X)(q27.3q28); Trisomy Xq27.3q28; Xq27.3q28 duplication syndrome; Trisomy Xq27.3-q28; Xq27.3-q28 microduplication syndrome (ORPHA:261483)
Gene: FMR1
Phenotype: X-linked inheritance (HP:0001417)
Associated disease: PREMATURE OVARIAN FAILURE 1 (OMIM:311360)
Gene: FMR1
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Martin-Bell syndrome; FXS; FraX syndrome; Fragile X syndrome; FRAXA syndrome (ORPHA:908)
Gene: FMR1
Phenotype: Large forehead (HP:0002003)
Associated disease: Martin-Bell syndrome; FXS; FraX syndrome; Fragile X syndrome; FRAXA syndrome (ORPHA:908)
Gene: FMR1
Phenotype: Large forehead (HP:0002003)
Associated disease: FRAGILE X SYNDROME (OMIM:300624)
Gene: FMR1
Phenotype: Myalgia (HP:0003326)
Associated disease: FXTAS syndrome; Fragile X-associated tremor/ataxia syndrome (ORPHA:93256)
Gene: FMR1
Phenotype: Myalgia (HP:0003326)
Associated disease: FRAGILE X TREMOR/ATAXIA SYNDROME (OMIM:300623)
Gene: FMR1
Phenotype: Dysphagia (HP:0002015)
Associated disease: FXTAS syndrome; Fragile X-associated tremor/ataxia syndrome (ORPHA:93256)
Gene: FMR1
Phenotype: Frontal bossing (HP:0002007)
Associated disease: Martin-Bell syndrome; FXS; FraX syndrome; Fragile X syndrome; FRAXA syndrome (ORPHA:908)
Gene: FMR1
Phenotype: Intention tremor (HP:0002080)
Associated disease: FXTAS syndrome; Fragile X-associated tremor/ataxia syndrome (ORPHA:93256)
Gene: FMR1
Phenotype: Intention tremor (HP:0002080)
Associated disease: FRAGILE X TREMOR/ATAXIA SYNDROME (OMIM:300623)
Gene: FMR1
Phenotype: Bradykinesia (HP:0002067)
Associated disease: FXTAS syndrome; Fragile X-associated tremor/ataxia syndrome (ORPHA:93256)
Gene: FMR1
Phenotype: Bradykinesia (HP:0002067)
Associated disease: FRAGILE X TREMOR/ATAXIA SYNDROME (OMIM:300623)
Gene: FMR1
Phenotype: Gait ataxia (HP:0002066)
Associated disease: FXTAS syndrome; Fragile X-associated tremor/ataxia syndrome (ORPHA:93256)
Gene: FMR1
Phenotype: Gait ataxia (HP:0002066)
Associated disease: FRAGILE X TREMOR/ATAXIA SYNDROME (OMIM:300623)
Gene: FMR1
Phenotype: Rigidity (HP:0002063)
Associated disease: FXTAS syndrome; Fragile X-associated tremor/ataxia syndrome (ORPHA:93256)
Gene: FMR1
Phenotype: Dysdiadochokinesis (HP:0002075)
Associated disease: FRAGILE X TREMOR/ATAXIA SYNDROME (OMIM:300623)
Gene: FMR1
Phenotype: Macroorchidism, postpubertal (HP:0002050)
Associated disease: FRAGILE X SYNDROME (OMIM:300624)
Gene: FMR1
Phenotype: Pollakisuria (HP:0100515)
Associated disease: FXTAS syndrome; Fragile X-associated tremor/ataxia syndrome (ORPHA:93256)
Gene: FMR1
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: FXTAS syndrome; Fragile X-associated tremor/ataxia syndrome (ORPHA:93256)
Gene: FMR1
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: Martin-Bell syndrome; FXS; FraX syndrome; Fragile X syndrome; FRAXA syndrome (ORPHA:908)
Gene: FMR1
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: Martin-Bell syndrome; FXS; FraX syndrome; Fragile X syndrome; FRAXA syndrome (ORPHA:908)
Gene: FMR1
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: Martin-Bell syndrome; FXS; FraX syndrome; Fragile X syndrome; FRAXA syndrome (ORPHA:908)
Gene: FMR1
Phenotype: Postural tremor (HP:0002174)
Associated disease: FRAGILE X TREMOR/ATAXIA SYNDROME (OMIM:300623)
Gene: FMR1
Phenotype: Postural instability (HP:0002172)
Associated disease: FXTAS syndrome; Fragile X-associated tremor/ataxia syndrome (ORPHA:93256)
Gene: FMR1
Phenotype: Premature ovarian insufficiency (HP:0008209)
Associated disease: PREMATURE OVARIAN FAILURE 1 (OMIM:311360)
Gene: FMR1
Phenotype: Premature ovarian insufficiency (HP:0008209)
Associated disease: FRAGILE X TREMOR/ATAXIA SYNDROME (OMIM:300623)
Gene: FMR1
Phenotype: Late onset (HP:0003584)
Associated disease: FRAGILE X TREMOR/ATAXIA SYNDROME (OMIM:300623)
Gene: FMR1
Phenotype: Adult onset (HP:0003581)
Associated disease: PREMATURE OVARIAN FAILURE 1 (OMIM:311360)
Gene: FMR1
Phenotype: Self-injurious behavior (HP:0100716)
Associated disease: Martin-Bell syndrome; FXS; FraX syndrome; Fragile X syndrome; FRAXA syndrome (ORPHA:908)
Gene: FMR1
Phenotype: Folate-dependent fragile site at Xq28 (HP:0003564)
Associated disease: Martin-Bell syndrome; FXS; FraX syndrome; Fragile X syndrome; FRAXA syndrome (ORPHA:908)
Gene: FMR1
Phenotype: Folate-dependent fragile site at Xq28 (HP:0003564)
Associated disease: FRAGILE X SYNDROME (OMIM:300624)
Gene: FMR1
Phenotype: Sparse body hair (HP:0002231)
Associated disease: Dup(X)(q27.3q28); Trisomy Xq27.3q28; Xq27.3q28 duplication syndrome; Trisomy Xq27.3-q28; Xq27.3-q28 microduplication syndrome (ORPHA:261483)
Gene: FMR1
Phenotype: Poor fine motor coordination (HP:0007010)
Associated disease: FRAGILE X TREMOR/ATAXIA SYNDROME (OMIM:300623)
Gene: FMR1
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: Martin-Bell syndrome; FXS; FraX syndrome; Fragile X syndrome; FRAXA syndrome (ORPHA:908)
Gene: FMR1
Phenotype: Abnormal brainstem morphology (HP:0002363)
Associated disease: FXTAS syndrome; Fragile X-associated tremor/ataxia syndrome (ORPHA:93256)
Gene: FMR1
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: Martin-Bell syndrome; FXS; FraX syndrome; Fragile X syndrome; FRAXA syndrome (ORPHA:908)
Gene: FMR1
Phenotype: Action tremor (HP:0002345)
Associated disease: FRAGILE X TREMOR/ATAXIA SYNDROME (OMIM:300623)
Gene: FMR1
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: Martin-Bell syndrome; FXS; FraX syndrome; Fragile X syndrome; FRAXA syndrome (ORPHA:908)
Gene: FMR1
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: FRAGILE X SYNDROME (OMIM:300624)
Gene: FMR1
Phenotype: Memory impairment (HP:0002354)
Associated disease: FXTAS syndrome; Fragile X-associated tremor/ataxia syndrome (ORPHA:93256)
Gene: FMR1
Phenotype: Memory impairment (HP:0002354)
Associated disease: FRAGILE X TREMOR/ATAXIA SYNDROME (OMIM:300623)
Gene: FMR1
Phenotype: Resting tremor (HP:0002322)
Associated disease: FRAGILE X TREMOR/ATAXIA SYNDROME (OMIM:300623)
Gene: FMR1
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: FXTAS syndrome; Fragile X-associated tremor/ataxia syndrome (ORPHA:93256)
Gene: FMR1
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: FRAGILE X TREMOR/ATAXIA SYNDROME (OMIM:300623)
Gene: FMR1
Phenotype: Small hand (HP:0200055)
Associated disease: Dup(X)(q27.3q28); Trisomy Xq27.3q28; Xq27.3q28 duplication syndrome; Trisomy Xq27.3-q28; Xq27.3-q28 microduplication syndrome (ORPHA:261483)
Gene: FMR1
Phenotype: Periventricular heterotopia (HP:0007165)
Associated disease: FRAGILE X SYNDROME (OMIM:300624)
Gene: FMR1
Phenotype: Ascending tubular aorta aneurysm (HP:0004970)
Associated disease: Martin-Bell syndrome; FXS; FraX syndrome; Fragile X syndrome; FRAXA syndrome (ORPHA:908)
Gene: FMR1
Phenotype: Impaired distal vibration sensation (HP:0006886)
Associated disease: FRAGILE X TREMOR/ATAXIA SYNDROME (OMIM:300623)
Gene: FMR1
Phenotype: Nystagmus (HP:0000639)
Associated disease: FRAGILE X TREMOR/ATAXIA SYNDROME (OMIM:300623)
Gene: FMR1
Phenotype: Truncal obesity (HP:0001956)
Associated disease: Dup(X)(q27.3q28); Trisomy Xq27.3q28; Xq27.3q28 duplication syndrome; Trisomy Xq27.3-q28; Xq27.3-q28 microduplication syndrome (ORPHA:261483)
Gene: FMR1
Phenotype: Short stature (HP:0004322)
Associated disease: Dup(X)(q27.3q28); Trisomy Xq27.3q28; Xq27.3q28 duplication syndrome; Trisomy Xq27.3-q28; Xq27.3-q28 microduplication syndrome (ORPHA:261483)
Gene: FMR1
Phenotype: Impotence (HP:0000802)
Associated disease: FXTAS syndrome; Fragile X-associated tremor/ataxia syndrome (ORPHA:93256)
Gene: FMR1
Phenotype: Impotence (HP:0000802)
Associated disease: FRAGILE X TREMOR/ATAXIA SYNDROME (OMIM:300623)
Gene: FMR1
Phenotype: Hyperactivity (HP:0000752)
Associated disease: FRAGILE X SYNDROME (OMIM:300624)
Gene: FMR1
Phenotype: Gynecomastia (HP:0000771)
Associated disease: Dup(X)(q27.3q28); Trisomy Xq27.3q28; Xq27.3q28 duplication syndrome; Trisomy Xq27.3-q28; Xq27.3-q28 microduplication syndrome (ORPHA:261483)
Gene: FMR1
Phenotype: Recurrent hand flapping (HP:0100023)
Associated disease: FRAGILE X SYNDROME (OMIM:300624)
Gene: FMR1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: FRAGILE X SYNDROME (OMIM:300624)
Gene: FMR1
Phenotype: Irritability (HP:0000737)
Associated disease: FXTAS syndrome; Fragile X-associated tremor/ataxia syndrome (ORPHA:93256)
Gene: FMR1
Phenotype: Irritability (HP:0000737)
Associated disease: Martin-Bell syndrome; FXS; FraX syndrome; Fragile X syndrome; FRAXA syndrome (ORPHA:908)
Gene: FMR1
Phenotype: Anxiety (HP:0000739)
Associated disease: FXTAS syndrome; Fragile X-associated tremor/ataxia syndrome (ORPHA:93256)
Gene: FMR1
Phenotype: Anxiety (HP:0000739)
Associated disease: Martin-Bell syndrome; FXS; FraX syndrome; Fragile X syndrome; FRAXA syndrome (ORPHA:908)
Gene: FMR1
Phenotype: Anxiety (HP:0000739)
Associated disease: FRAGILE X TREMOR/ATAXIA SYNDROME (OMIM:300623)
Gene: FMR1
Phenotype: Disinhibition (HP:0000734)
Associated disease: FRAGILE X TREMOR/ATAXIA SYNDROME (OMIM:300623)
Gene: FMR1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Martin-Bell syndrome; FXS; FraX syndrome; Fragile X syndrome; FRAXA syndrome (ORPHA:908)
Gene: FMR1
Phenotype: Depression (HP:0000716)
Associated disease: FXTAS syndrome; Fragile X-associated tremor/ataxia syndrome (ORPHA:93256)
Gene: FMR1
Phenotype: Depression (HP:0000716)
Associated disease: FRAGILE X TREMOR/ATAXIA SYNDROME (OMIM:300623)
Gene: FMR1
Phenotype: Autism (HP:0000717)
Associated disease: FRAGILE X SYNDROME (OMIM:300624)
Gene: FMR1
Phenotype: Autism (HP:0000717)
Associated disease: Martin-Bell syndrome; FXS; FraX syndrome; Fragile X syndrome; FRAXA syndrome (ORPHA:908)
Gene: FMR1
Phenotype: Agitation (HP:0000713)
Associated disease: FXTAS syndrome; Fragile X-associated tremor/ataxia syndrome (ORPHA:93256)
Gene: FMR1
Phenotype: Dementia (HP:0000726)
Associated disease: FXTAS syndrome; Fragile X-associated tremor/ataxia syndrome (ORPHA:93256)
Gene: FMR1
Phenotype: Dementia (HP:0000726)
Associated disease: FRAGILE X TREMOR/ATAXIA SYNDROME (OMIM:300623)
Gene: FMR1
Phenotype: Compulsive behaviors (HP:0000722)
Associated disease: FXTAS syndrome; Fragile X-associated tremor/ataxia syndrome (ORPHA:93256)
Gene: FMR1
Phenotype: Childhood onset (HP:0011463)
Associated disease: FRAGILE X SYNDROME (OMIM:300624)
Gene: FMR1
Phenotype: Irregular menstruation (HP:0000858)
Associated disease: PREMATURE OVARIAN FAILURE 1 (OMIM:311360)
Gene: FMR1
Phenotype: Increased circulating gonadotropin level (HP:0000837)
Associated disease: PREMATURE OVARIAN FAILURE 1 (OMIM:311360)
Gene: FMR1
Phenotype: Reduced eye contact (HP:0000817)
Associated disease: FRAGILE X SYNDROME (OMIM:300624)
Gene: FMR1
Phenotype: Hypertension (HP:0000822)
Associated disease: FXTAS syndrome; Fragile X-associated tremor/ataxia syndrome (ORPHA:93256)
Gene: FMR1
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: FXTAS syndrome; Fragile X-associated tremor/ataxia syndrome (ORPHA:93256)
Gene: FMR1
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: FRAGILE X TREMOR/ATAXIA SYNDROME (OMIM:300623)
Gene: FMR1
Phenotype: Diffuse cerebellar atrophy (HP:0100275)
Associated disease: FXTAS syndrome; Fragile X-associated tremor/ataxia syndrome (ORPHA:93256)
Gene: FMR1
Phenotype: Coarse facial features (HP:0000280)
Associated disease: FRAGILE X SYNDROME (OMIM:300624)
Gene: FMR1
Phenotype: Mask-like facies (HP:0000298)
Associated disease: FRAGILE X TREMOR/ATAXIA SYNDROME (OMIM:300623)
Gene: FMR1
Phenotype: Macrocephaly (HP:0000256)
Associated disease: FRAGILE X SYNDROME (OMIM:300624)
Gene: FMR1
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Martin-Bell syndrome; FXS; FraX syndrome; Fragile X syndrome; FRAXA syndrome (ORPHA:908)
Gene: FMR1
Phenotype: Narrow face (HP:0000275)
Associated disease: Martin-Bell syndrome; FXS; FraX syndrome; Fragile X syndrome; FRAXA syndrome (ORPHA:908)
Gene: FMR1
Phenotype: Long face (HP:0000276)
Associated disease: Martin-Bell syndrome; FXS; FraX syndrome; Fragile X syndrome; FRAXA syndrome (ORPHA:908)
Gene: FMR1
Phenotype: Long face (HP:0000276)
Associated disease: FRAGILE X SYNDROME (OMIM:300624)
Gene: FMR1
Phenotype: Sinusitis (HP:0000246)
Associated disease: Martin-Bell syndrome; FXS; FraX syndrome; Fragile X syndrome; FRAXA syndrome (ORPHA:908)
Gene: FMR1
Phenotype: Thin vermilion border (HP:0000233)
Associated disease: Dup(X)(q27.3q28); Trisomy Xq27.3q28; Xq27.3q28 duplication syndrome; Trisomy Xq27.3-q28; Xq27.3-q28 microduplication syndrome (ORPHA:261483)
Gene: FMR1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Dup(X)(q27.3q28); Trisomy Xq27.3q28; Xq27.3q28 duplication syndrome; Trisomy Xq27.3-q28; Xq27.3-q28 microduplication syndrome (ORPHA:261483)
Gene: FMR1
Phenotype: Urinary bladder sphincter dysfunction (HP:0002839)
Associated disease: FXTAS syndrome; Fragile X-associated tremor/ataxia syndrome (ORPHA:93256)
Gene: FMR1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Dup(X)(q27.3q28); Trisomy Xq27.3q28; Xq27.3q28 duplication syndrome; Trisomy Xq27.3-q28; Xq27.3-q28 microduplication syndrome (ORPHA:261483)
Gene: FMR1
Phenotype: Chronic otitis media (HP:0000389)
Associated disease: Martin-Bell syndrome; FXS; FraX syndrome; Fragile X syndrome; FRAXA syndrome (ORPHA:908)
Gene: FMR1
Phenotype: Otitis media (HP:0000388)
Associated disease: Martin-Bell syndrome; FXS; FraX syndrome; Fragile X syndrome; FRAXA syndrome (ORPHA:908)
Gene: FMR1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: FRAGILE X TREMOR/ATAXIA SYNDROME (OMIM:300623)
Gene: FMR1
Phenotype: Abnormal autonomic nervous system physiology (HP:0012332)
Associated disease: FXTAS syndrome; Fragile X-associated tremor/ataxia syndrome (ORPHA:93256)
Gene: FMR1
Phenotype: Abnormally high-pitched voice (HP:0001620)
Associated disease: Dup(X)(q27.3q28); Trisomy Xq27.3q28; Xq27.3q28 duplication syndrome; Trisomy Xq27.3-q28; Xq27.3-q28 microduplication syndrome (ORPHA:261483)
Gene: FMR1
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: Martin-Bell syndrome; FXS; FraX syndrome; Fragile X syndrome; FRAXA syndrome (ORPHA:908)
Gene: FMR1
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: FRAGILE X SYNDROME (OMIM:300624)
Gene: FMR1
Phenotype: Mitral valve prolapse (HP:0001634)
Associated disease: FRAGILE X SYNDROME (OMIM:300624)
Gene: FMR1
Phenotype: Mitral valve prolapse (HP:0001634)
Associated disease: Martin-Bell syndrome; FXS; FraX syndrome; Fragile X syndrome; FRAXA syndrome (ORPHA:908)
Gene: FMR1
Phenotype: Impaired tandem gait (HP:0031629)
Associated disease: FRAGILE X TREMOR/ATAXIA SYNDROME (OMIM:300623)
Gene: FMR1
Phenotype: Macrotia (HP:0000400)
Associated disease: Martin-Bell syndrome; FXS; FraX syndrome; Fragile X syndrome; FRAXA syndrome (ORPHA:908)
Gene: FMR1
Phenotype: Macrotia (HP:0000400)
Associated disease: FRAGILE X SYNDROME (OMIM:300624)
Gene: FMR1
Phenotype: Inertia (HP:0030216)
Associated disease: FXTAS syndrome; Fragile X-associated tremor/ataxia syndrome (ORPHA:93256)
Gene: FMR1
Phenotype: Strabismus (HP:0000486)
Associated disease: Martin-Bell syndrome; FXS; FraX syndrome; Fragile X syndrome; FRAXA syndrome (ORPHA:908)
Gene: FMR1
Phenotype: Deeply set eye (HP:0000490)
Associated disease: Dup(X)(q27.3q28); Trisomy Xq27.3q28; Xq27.3q28 duplication syndrome; Trisomy Xq27.3-q28; Xq27.3-q28 microduplication syndrome (ORPHA:261483)
Gene: FMR1
Phenotype: Short foot (HP:0001773)
Associated disease: Dup(X)(q27.3q28); Trisomy Xq27.3q28; Xq27.3q28 duplication syndrome; Trisomy Xq27.3-q28; Xq27.3-q28 microduplication syndrome (ORPHA:261483)
Gene: FMR1
Phenotype: Pes planus (HP:0001763)
Associated disease: Martin-Bell syndrome; FXS; FraX syndrome; Fragile X syndrome; FRAXA syndrome (ORPHA:908)
Gene: FMR1
Phenotype: Pes planus (HP:0001763)
Associated disease: FRAGILE X SYNDROME (OMIM:300624)
Gene: FMR1
Phenotype: Bulbous nose (HP:0000414)
Associated disease: Dup(X)(q27.3q28); Trisomy Xq27.3q28; Xq27.3q28 duplication syndrome; Trisomy Xq27.3-q28; Xq27.3-q28 microduplication syndrome (ORPHA:261483)
Gene: FMR1
Phenotype: Protruding ear (HP:0000411)
Associated disease: Martin-Bell syndrome; FXS; FraX syndrome; Fragile X syndrome; FRAXA syndrome (ORPHA:908)
Gene: FMR1
Phenotype: Dysesthesia (HP:0012534)
Associated disease: FXTAS syndrome; Fragile X-associated tremor/ataxia syndrome (ORPHA:93256)
Gene: AFF2
Phenotype: Fetal distress (HP:0025116)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 109 (OMIM:309548)
Gene: AFF2
Phenotype: Prominent ear helix (HP:0009904)
Associated disease: Intellectual disability associated with fragile site FRAXE; FRAXE intellectual disability (ORPHA:100973)
Gene: AFF2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 109 (OMIM:309548)
Gene: AFF2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Intellectual disability associated with fragile site FRAXE; FRAXE intellectual disability (ORPHA:100973)
Gene: AFF2
Phenotype: Specific learning disability (HP:0001328)
Associated disease: Intellectual disability associated with fragile site FRAXE; FRAXE intellectual disability (ORPHA:100973)