TaoMedAI/RareMedData huggingface dataset:
Gene: KIF11
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION (OMIM:152950)
Gene: KIF11
Phenotype: Lymphedema (HP:0001004)
Associated disease: MLCRD; Microcephaly-lymphedema-chorioretinopathy syndrome (ORPHA:2526)
Gene: KIF11
Phenotype: Lymphedema (HP:0001004)
Associated disease: MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION (OMIM:152950)
Gene: KIF11
Phenotype: Lymphedema (HP:0001004)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: KIF11
Phenotype: Melanonychia (HP:0100644)
Associated disease: MLCRD; Microcephaly-lymphedema-chorioretinopathy syndrome (ORPHA:2526)
Gene: KIF11
Phenotype: Cellulitis (HP:0100658)
Associated disease: MLCRD; Microcephaly-lymphedema-chorioretinopathy syndrome (ORPHA:2526)
Gene: KIF11
Phenotype: Cellulitis (HP:0100658)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: KIF11
Phenotype: Thickened skin (HP:0001072)
Associated disease: MLCRD; Microcephaly-lymphedema-chorioretinopathy syndrome (ORPHA:2526)
Gene: KIF11
Phenotype: Skin ulcer (HP:0200042)
Associated disease: MLCRD; Microcephaly-lymphedema-chorioretinopathy syndrome (ORPHA:2526)
Gene: KIF11
Phenotype: Venous thrombosis (HP:0004936)
Associated disease: MLCRD; Microcephaly-lymphedema-chorioretinopathy syndrome (ORPHA:2526)
Gene: KIF11
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: KIF11
Phenotype: Nystagmus (HP:0000639)
Associated disease: MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION (OMIM:152950)
Gene: KIF11
Phenotype: Amblyopia (HP:0000646)
Associated disease: MLCRD; Microcephaly-lymphedema-chorioretinopathy syndrome (ORPHA:2526)
Gene: KIF11
Phenotype: Optic atrophy (HP:0000648)
Associated disease: MLCRD; Microcephaly-lymphedema-chorioretinopathy syndrome (ORPHA:2526)
Gene: KIF11
Phenotype: Optic atrophy (HP:0000648)
Associated disease: MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION (OMIM:152950)
Gene: KIF11
Phenotype: Blindness (HP:0000618)
Associated disease: MLCRD; Microcephaly-lymphedema-chorioretinopathy syndrome (ORPHA:2526)
Gene: KIF11
Phenotype: Photophobia (HP:0000613)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: KIF11
Phenotype: Abnormal nasolacrimal system morphology (HP:0000614)
Associated disease: MLCRD; Microcephaly-lymphedema-chorioretinopathy syndrome (ORPHA:2526)
Gene: KIF11
Phenotype: Leukemia (HP:0001909)
Associated disease: MLCRD; Microcephaly-lymphedema-chorioretinopathy syndrome (ORPHA:2526)
Gene: KIF11
Phenotype: Yellow nails (HP:0011367)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: KIF11
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: KIF11
Phenotype: Ectropion (HP:0000656)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: KIF11
Phenotype: Abnormality of the musculature (HP:0003011)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: KIF11
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION (OMIM:152950)
Gene: KIF11
Phenotype: Agitation (HP:0000713)
Associated disease: MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION (OMIM:152950)
Gene: KIF11
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: KIF11
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: KIF11
Phenotype: Corneal ulceration (HP:0012804)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: KIF11
Phenotype: Chylothorax (HP:0010310)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: KIF11
Phenotype: Chylothorax (HP:0010310)
Associated disease: MLCRD; Microcephaly-lymphedema-chorioretinopathy syndrome (ORPHA:2526)
Gene: KIF11
Phenotype: Dry skin (HP:0000958)
Associated disease: MLCRD; Microcephaly-lymphedema-chorioretinopathy syndrome (ORPHA:2526)
Gene: KIF11
Phenotype: Edema (HP:0000969)
Associated disease: MLCRD; Microcephaly-lymphedema-chorioretinopathy syndrome (ORPHA:2526)
Gene: KIF11
Phenotype: Retinal fold (HP:0008052)
Associated disease: MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION (OMIM:152950)
Gene: KIF11
Phenotype: Scaling skin (HP:0040189)
Associated disease: MLCRD; Microcephaly-lymphedema-chorioretinopathy syndrome (ORPHA:2526)
Gene: KIF11
Phenotype: Arrhythmia (HP:0011675)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: KIF11
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: MLCRD; Microcephaly-lymphedema-chorioretinopathy syndrome (ORPHA:2526)
Gene: KIF11
Phenotype: Epicanthus (HP:0000286)
Associated disease: MLCRD; Microcephaly-lymphedema-chorioretinopathy syndrome (ORPHA:2526)
Gene: KIF11
Phenotype: Epicanthus (HP:0000286)
Associated disease: MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION (OMIM:152950)
Gene: KIF11
Phenotype: Full cheeks (HP:0000293)
Associated disease: MLCRD; Microcephaly-lymphedema-chorioretinopathy syndrome (ORPHA:2526)
Gene: KIF11
Phenotype: Abnormal hair morphology (HP:0001595)
Associated disease: MLCRD; Microcephaly-lymphedema-chorioretinopathy syndrome (ORPHA:2526)
Gene: KIF11
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: KIF11
Phenotype: Chorioretinal dysplasia (HP:0007731)
Associated disease: MLCRD; Microcephaly-lymphedema-chorioretinopathy syndrome (ORPHA:2526)
Gene: KIF11
Phenotype: Chorioretinal dysplasia (HP:0007731)
Associated disease: MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION (OMIM:152950)
Gene: KIF11
Phenotype: Kyphosis (HP:0002808)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: KIF11
Phenotype: Microcephaly (HP:0000252)
Associated disease: MLCRD; Microcephaly-lymphedema-chorioretinopathy syndrome (ORPHA:2526)
Gene: KIF11
Phenotype: Microcephaly (HP:0000252)
Associated disease: MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION (OMIM:152950)
Gene: KIF11
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION (OMIM:152950)
Gene: KIF11
Phenotype: Cleft upper lip (HP:0000204)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: KIF11
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: KIF11
Phenotype: Chorioretinal lacunae (HP:0007858)
Associated disease: MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION (OMIM:152950)
Gene: KIF11
Phenotype: Sloping forehead (HP:0000340)
Associated disease: MLCRD; Microcephaly-lymphedema-chorioretinopathy syndrome (ORPHA:2526)
Gene: KIF11
Phenotype: Sloping forehead (HP:0000340)
Associated disease: MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION (OMIM:152950)
Gene: KIF11
Phenotype: Long philtrum (HP:0000343)
Associated disease: MLCRD; Microcephaly-lymphedema-chorioretinopathy syndrome (ORPHA:2526)
Gene: KIF11
Phenotype: Long philtrum (HP:0000343)
Associated disease: MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION (OMIM:152950)
Gene: KIF11
Phenotype: Micrognathia (HP:0000347)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: KIF11
Phenotype: Myoclonic seizure (HP:0032794)
Associated disease: MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION (OMIM:152950)
Gene: KIF11
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: KIF11
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: KIF11
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: KIF11
Phenotype: Pointed chin (HP:0000307)
Associated disease: MLCRD; Microcephaly-lymphedema-chorioretinopathy syndrome (ORPHA:2526)
Gene: KIF11
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: MLCRD; Microcephaly-lymphedema-chorioretinopathy syndrome (ORPHA:2526)
Gene: KIF11
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION (OMIM:152950)
Gene: KIF11
Phenotype: Corneal opacity (HP:0007957)
Associated disease: MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION (OMIM:152950)
Gene: KIF11
Phenotype: Panniculitis (HP:0012490)
Associated disease: MLCRD; Microcephaly-lymphedema-chorioretinopathy syndrome (ORPHA:2526)
Gene: KIF11
Phenotype: Abnormal eyelash morphology (HP:0000499)
Associated disease: MLCRD; Microcephaly-lymphedema-chorioretinopathy syndrome (ORPHA:2526)
Gene: KIF11
Phenotype: Retinal dysplasia (HP:0007973)
Associated disease: MLCRD; Microcephaly-lymphedema-chorioretinopathy syndrome (ORPHA:2526)
Gene: KIF11
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION (OMIM:152950)
Gene: KIF11
Phenotype: Astigmatism (HP:0000483)
Associated disease: MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION (OMIM:152950)
Gene: KIF11
Phenotype: Microcornea (HP:0000482)
Associated disease: MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION (OMIM:152950)
Gene: KIF11
Phenotype: Thick vermilion border (HP:0012471)
Associated disease: MLCRD; Microcephaly-lymphedema-chorioretinopathy syndrome (ORPHA:2526)
Gene: KIF11
Phenotype: Cystic hygroma (HP:0000476)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: KIF11
Phenotype: Abnormality of the eye (HP:0000478)
Associated disease: MLCRD; Microcephaly-lymphedema-chorioretinopathy syndrome (ORPHA:2526)
Gene: KIF11
Phenotype: Recurrent corneal erosions (HP:0000495)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: KIF11
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION (OMIM:152950)
Gene: KIF11
Phenotype: Abnormal eyelid morphology (HP:0000492)
Associated disease: MLCRD; Microcephaly-lymphedema-chorioretinopathy syndrome (ORPHA:2526)
Gene: KIF11
Phenotype: Retinopathy (HP:0000488)
Associated disease: MLCRD; Microcephaly-lymphedema-chorioretinopathy syndrome (ORPHA:2526)
Gene: KIF11
Phenotype: Anteverted nares (HP:0000463)
Associated disease: MLCRD; Microcephaly-lymphedema-chorioretinopathy syndrome (ORPHA:2526)
Gene: KIF11
Phenotype: Anteverted nares (HP:0000463)
Associated disease: MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION (OMIM:152950)
Gene: KIF11
Phenotype: Nonimmune hydrops fetalis (HP:0001790)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: KIF11
Phenotype: Broad nasal tip (HP:0000455)
Associated disease: MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION (OMIM:152950)
Gene: KIF11
Phenotype: Webbed neck (HP:0000465)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: KIF11
Phenotype: Wide nose (HP:0000445)
Associated disease: MLCRD; Microcephaly-lymphedema-chorioretinopathy syndrome (ORPHA:2526)
Gene: KIF11
Phenotype: Protruding ear (HP:0000411)
Associated disease: MLCRD; Microcephaly-lymphedema-chorioretinopathy syndrome (ORPHA:2526)
Gene: KIF11
Phenotype: Protruding ear (HP:0000411)
Associated disease: MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION (OMIM:152950)
Gene: KIF11
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: MLCRD; Microcephaly-lymphedema-chorioretinopathy syndrome (ORPHA:2526)
Gene: KIF11
Phenotype: Flat occiput (HP:0005469)
Associated disease: MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION (OMIM:152950)
Gene: KIF11
Phenotype: Cataract (HP:0000518)
Associated disease: MLCRD; Microcephaly-lymphedema-chorioretinopathy syndrome (ORPHA:2526)
Gene: KIF11
Phenotype: Cataract (HP:0000518)
Associated disease: MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION (OMIM:152950)
Gene: KIF11
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: KIF11
Phenotype: Anophthalmia (HP:0000528)
Associated disease: MLCRD; Microcephaly-lymphedema-chorioretinopathy syndrome (ORPHA:2526)
Gene: KIF11
Phenotype: Leukonychia (HP:0001820)
Associated disease: MLCRD; Microcephaly-lymphedema-chorioretinopathy syndrome (ORPHA:2526)
Gene: KIF11
Phenotype: Conjunctivitis (HP:0000509)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: KIF11
Phenotype: Ptosis (HP:0000508)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: KIF11
Phenotype: Ptosis (HP:0000508)
Associated disease: MLCRD; Microcephaly-lymphedema-chorioretinopathy syndrome (ORPHA:2526)
Gene: KIF11
Phenotype: Abnormality of vision (HP:0000504)
Associated disease: MLCRD; Microcephaly-lymphedema-chorioretinopathy syndrome (ORPHA:2526)
Gene: KIF11
Phenotype: Glaucoma (HP:0000501)
Associated disease: MLCRD; Microcephaly-lymphedema-chorioretinopathy syndrome (ORPHA:2526)
Gene: KIF11
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: MLCRD; Microcephaly-lymphedema-chorioretinopathy syndrome (ORPHA:2526)
Gene: KIF11
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION (OMIM:152950)
Gene: KIF11
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: KIF11
Phenotype: Abnormal optic nerve morphology (HP:0000587)
Associated disease: MLCRD; Microcephaly-lymphedema-chorioretinopathy syndrome (ORPHA:2526)
Gene: KIF11
Phenotype: Prominent forehead (HP:0011220)
Associated disease: MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION (OMIM:152950)
Gene: KIF11
Phenotype: Retinal dystrophy (HP:0000556)
Associated disease: MLCRD; Microcephaly-lymphedema-chorioretinopathy syndrome (ORPHA:2526)
Gene: KIF11
Phenotype: Visual loss (HP:0000572)
Associated disease: MLCRD; Microcephaly-lymphedema-chorioretinopathy syndrome (ORPHA:2526)
Gene: KIF11
Phenotype: Microphthalmia (HP:0000568)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: KIF11
Phenotype: Microphthalmia (HP:0000568)
Associated disease: MLCRD; Microcephaly-lymphedema-chorioretinopathy syndrome (ORPHA:2526)
Gene: KIF11
Phenotype: Microphthalmia (HP:0000568)
Associated disease: MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION (OMIM:152950)
Gene: KIF11
Phenotype: Retinal detachment (HP:0000541)
Associated disease: MLCRD; Microcephaly-lymphedema-chorioretinopathy syndrome (ORPHA:2526)
Gene: KIF11
Phenotype: Retinal detachment (HP:0000541)
Associated disease: MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION (OMIM:152950)
Gene: KIF11
Phenotype: Hypermetropia (HP:0000540)
Associated disease: MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION (OMIM:152950)
Gene: KIF11
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: KIF11
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: KIF11
Phenotype: Myopia (HP:0000545)
Associated disease: MLCRD; Microcephaly-lymphedema-chorioretinopathy syndrome (ORPHA:2526)
Gene: KIF11
Phenotype: Myopia (HP:0000545)
Associated disease: MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION (OMIM:152950)
Gene: KIF22
Phenotype: Brachydactyly (HP:0001156)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: KIF22
Phenotype: Short distal phalanx of finger (HP:0009882)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: KIF22
Phenotype: Microtia (HP:0008551)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: KIF22
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KIF22
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KIF22
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 2 (OMIM:603546)
Gene: KIF22
Phenotype: Seizure (HP:0001250)
Associated disease: SEMDJL2; Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type; Spondyloepimetaphyseal dysplasia with joint laxicity, Hall type; Spondyloepimetaphyseal dysplasia with multiple dislocations, Hall type; Spondyloepimetaphyseal dysplasia with joint laxity type 2; SEMD-MD (ORPHA:93360)
Gene: KIF22
Phenotype: Hypotonia (HP:0001252)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 2 (OMIM:603546)
Gene: KIF22
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIF22
Phenotype: Intellectual disability (HP:0001249)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: KIF22
Phenotype: Intellectual disability (HP:0001249)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: KIF22
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIF22
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIF22
Phenotype: Slender finger (HP:0001238)
Associated disease: SEMDJL2; Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type; Spondyloepimetaphyseal dysplasia with joint laxicity, Hall type; Spondyloepimetaphyseal dysplasia with multiple dislocations, Hall type; Spondyloepimetaphyseal dysplasia with joint laxity type 2; SEMD-MD (ORPHA:93360)
Gene: KIF22
Phenotype: Laryngotracheomalacia (HP:0008755)
Associated disease: SEMDJL2; Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type; Spondyloepimetaphyseal dysplasia with joint laxicity, Hall type; Spondyloepimetaphyseal dysplasia with multiple dislocations, Hall type; Spondyloepimetaphyseal dysplasia with joint laxity type 2; SEMD-MD (ORPHA:93360)
Gene: KIF22
Phenotype: Laryngotracheomalacia (HP:0008755)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 2 (OMIM:603546)
Gene: KIF22
Phenotype: Short femoral neck (HP:0100864)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: KIF22
Phenotype: Multiple carpal ossification centers (HP:0006067)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: KIF22
Phenotype: Multiple carpal ossification centers (HP:0006067)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: KIF22
Phenotype: Abnormally shaped carpal bones (HP:0006014)
Associated disease: SEMDJL2; Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type; Spondyloepimetaphyseal dysplasia with joint laxicity, Hall type; Spondyloepimetaphyseal dysplasia with multiple dislocations, Hall type; Spondyloepimetaphyseal dysplasia with joint laxity type 2; SEMD-MD (ORPHA:93360)
Gene: KIF22
Phenotype: Delayed phalangeal epiphyseal ossification (HP:0006016)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 2 (OMIM:603546)
Gene: KIF22
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: KIF22
Phenotype: Tapered humerus (HP:0003883)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: KIF22
Phenotype: Spatulate thumbs (HP:0001222)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: KIF22
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KIF22
Phenotype: Waddling gait (HP:0002515)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: KIF22
Phenotype: Shoulder dislocation (HP:0003834)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: KIF22
Phenotype: Congenital hip dislocation (HP:0001374)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 2 (OMIM:603546)
Gene: KIF22
Phenotype: Flexion contracture (HP:0001371)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: KIF22
Phenotype: Joint dislocation (HP:0001373)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: KIF22
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 2 (OMIM:603546)
Gene: KIF22
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: KIF22
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIF22
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: SEMDJL2; Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type; Spondyloepimetaphyseal dysplasia with joint laxicity, Hall type; Spondyloepimetaphyseal dysplasia with multiple dislocations, Hall type; Spondyloepimetaphyseal dysplasia with joint laxity type 2; SEMD-MD (ORPHA:93360)
Gene: KIF22
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KIF22
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: KIF22
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIF22
Phenotype: Slender metacarpals (HP:0006236)
Associated disease: SEMDJL2; Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type; Spondyloepimetaphyseal dysplasia with joint laxicity, Hall type; Spondyloepimetaphyseal dysplasia with multiple dislocations, Hall type; Spondyloepimetaphyseal dysplasia with joint laxity type 2; SEMD-MD (ORPHA:93360)
Gene: KIF22
Phenotype: Neonatal short-trunk short stature (HP:0008857)
Associated disease: SEMDJL2; Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type; Spondyloepimetaphyseal dysplasia with joint laxicity, Hall type; Spondyloepimetaphyseal dysplasia with multiple dislocations, Hall type; Spondyloepimetaphyseal dysplasia with joint laxity type 2; SEMD-MD (ORPHA:93360)
Gene: KIF22
Phenotype: Multiple joint dislocation (HP:0012095)
Associated disease: SEMDJL2; Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type; Spondyloepimetaphyseal dysplasia with joint laxicity, Hall type; Spondyloepimetaphyseal dysplasia with multiple dislocations, Hall type; Spondyloepimetaphyseal dysplasia with joint laxity type 2; SEMD-MD (ORPHA:93360)
Gene: KIF22
Phenotype: Narrow femoral neck (HP:0008819)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 2 (OMIM:603546)
Gene: KIF22
Phenotype: Long proximal phalanx of finger (HP:0006127)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 2 (OMIM:603546)
Gene: KIF22
Phenotype: Dislocated wrist (HP:0003994)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: KIF22
Phenotype: Delayed epiphyseal ossification (HP:0002663)
Associated disease: SEMDJL2; Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type; Spondyloepimetaphyseal dysplasia with joint laxicity, Hall type; Spondyloepimetaphyseal dysplasia with multiple dislocations, Hall type; Spondyloepimetaphyseal dysplasia with joint laxity type 2; SEMD-MD (ORPHA:93360)