TaoMedAI/RareMedData huggingface dataset:
Gene: KIF22
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIF22
Phenotype: Diminished sulfotransferase activity in cultured fibroblasts (HP:6000970)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: KIF22
Phenotype: Slender proximal phalanx of finger (HP:0012297)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 2 (OMIM:603546)
Gene: KIF22
Phenotype: Long distal phalanx of finger (HP:0012299)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 2 (OMIM:603546)
Gene: KIF22
Phenotype: Slender distal phalanx of finger (HP:0012296)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 2 (OMIM:603546)
Gene: KIF22
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIF22
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIF22
Phenotype: Malar flattening (HP:0000272)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 2 (OMIM:603546)
Gene: KIF22
Phenotype: Malar flattening (HP:0000272)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: KIF22
Phenotype: Fixed elbow flexion (HP:0006471)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: KIF22
Phenotype: Generalized bone demineralization (HP:0006462)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: KIF22
Phenotype: Delayed patellar ossification (HP:0006454)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 2 (OMIM:603546)
Gene: KIF22
Phenotype: Posterior scalloping of vertebral bodies (HP:0005121)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 2 (OMIM:603546)
Gene: KIF22
Phenotype: Streaky metaphyseal sclerosis (HP:0005092)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 2 (OMIM:603546)
Gene: KIF22
Phenotype: Genu recurvatum (HP:0002816)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: KIF22
Phenotype: Arthralgia (HP:0002829)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: KIF22
Phenotype: Hip dislocation (HP:0002827)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 2 (OMIM:603546)
Gene: KIF22
Phenotype: Hip dislocation (HP:0002827)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: KIF22
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIF22
Phenotype: Hip dislocation (HP:0002827)
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: Kyphosis (HP:0002808)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: KIF22
Phenotype: Kyphosis (HP:0002808)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 2 (OMIM:603546)
Gene: KIF22
Phenotype: Kyphosis (HP:0002808)
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: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIF22
Phenotype: Barrel-shaped chest (HP:0001552)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: KIF22
Phenotype: High palate (HP:0000218)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: KIF22
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KIF22
Phenotype: Genu valgum (HP:0002857)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: KIF22
Phenotype: Genu valgum (HP:0002857)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 2 (OMIM:603546)
Gene: KIF22
Phenotype: Genu valgum (HP:0002857)
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: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KIF22
Phenotype: Cleft upper lip (HP:0000204)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: KIF22
Phenotype: Metaphyseal striations (HP:0031367)
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: Hip subluxation (HP:0030043)
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: Small for gestational age (HP:0001518)
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: Intrauterine growth retardation (HP:0001511)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: KIF22
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIF22
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KIF22
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIF22
Phenotype: Flat face (HP:0012368)
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: Flat face (HP:0012368)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: KIF22
Phenotype: Airway obstruction (HP:0006536)
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: Lumbar hyperlordosis (HP:0002938)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: KIF22
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIF22
Phenotype: Laryngeal stenosis (HP:0001602)
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: Vertebral fusion (HP:0002948)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: KIF22
Phenotype: Cervical kyphosis (HP:0002947)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: KIF22
Phenotype: Intervertebral space narrowing (HP:0002945)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: KIF22
Phenotype: Tricuspid regurgitation (HP:0005180)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: KIF22
Phenotype: Hearing impairment (HP:0000365)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: KIF22
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KIF22
Phenotype: Hearing impairment (HP:0000365)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: KIF22
Phenotype: Long philtrum (HP:0000343)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: KIF22
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIF22
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KIF22
Phenotype: Broad forehead (HP:0000337)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: KIF22
Phenotype: Tibial bowing (HP:0002982)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: KIF22
Phenotype: Aortic valve stenosis (HP:0001650)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: KIF22
Phenotype: Hypertelorism (HP:0000316)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: KIF22
Phenotype: Hypertelorism (HP:0000316)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: KIF22
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIF22
Phenotype: Pulmonic stenosis (HP:0001642)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: KIF22
Phenotype: Aortic regurgitation (HP:0001659)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: KIF22
Phenotype: Elbow flexion contracture (HP:0002987)
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: Mitral regurgitation (HP:0001653)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: KIF22
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: KIF22
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: KIF22
Phenotype: Breech presentation (HP:0001623)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: KIF22
Phenotype: Genu varum (HP:0002970)
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: Genu varum (HP:0002970)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 2 (OMIM:603546)
Gene: KIF22
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIF22
Phenotype: Cubitus valgus (HP:0002967)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: KIF22
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: KIF22
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KIF22
Phenotype: Corneal opacity (HP:0007957)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: KIF22
Phenotype: Wide intermamillary distance (HP:0006610)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: KIF22
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: KIF22
Phenotype: Mitral stenosis (HP:0001718)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: KIF22
Phenotype: Ventricular hypertrophy (HP:0001714)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: KIF22
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: KIF22
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIF22
Phenotype: Strabismus (HP:0000486)
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: Short neck (HP:0000470)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: KIF22
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIF22
Phenotype: Short nail (HP:0001799)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: KIF22
Phenotype: Talipes equinovalgus (HP:0001772)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: KIF22
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIF22
Phenotype: Pes planus (HP:0001763)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: KIF22
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIF22
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: KIF22
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: KIF22
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIF22
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KIF22
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIF22
Phenotype: Abnormal metatarsal morphology (HP:0001832)
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: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIF22
Phenotype: Shallow orbits (HP:0000586)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: KIF22
Phenotype: Prominent forehead (HP:0011220)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: KIF22
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIF22
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KPNA3
Phenotype: Sensory ataxia (HP:0010871)
Associated disease: SPASTIC PARAPLEGIA 88, AUTOSOMAL DOMINANT (OMIM:620106)
Gene: KPNA3
Phenotype: Motor delay (HP:0001270)
Associated disease: SPASTIC PARAPLEGIA 88, AUTOSOMAL DOMINANT (OMIM:620106)
Gene: KPNA3
Phenotype: Gait disturbance (HP:0001288)
Associated disease: SPG37; Autosomal dominant spastic paraplegia type 37 (ORPHA:171612)
Gene: KPNA3
Phenotype: Seizure (HP:0001250)
Associated disease: SPG37; Autosomal dominant spastic paraplegia type 37 (ORPHA:171612)
Gene: KPNA3
Phenotype: Upper limb hyperreflexia (HP:0007350)
Associated disease: SPG37; Autosomal dominant spastic paraplegia type 37 (ORPHA:171612)
Gene: KPNA3
Phenotype: Lower limb muscle weakness (HP:0007340)
Associated disease: SPASTIC PARAPLEGIA 88, AUTOSOMAL DOMINANT (OMIM:620106)
Gene: KPNA3
Phenotype: Lower limb muscle weakness (HP:0007340)
Associated disease: SPG37; Autosomal dominant spastic paraplegia type 37 (ORPHA:171612)
Gene: KPNA3
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: SPG37; Autosomal dominant spastic paraplegia type 37 (ORPHA:171612)
Gene: KPNA3
Phenotype: Thin corpus callosum (HP:0033725)
Associated disease: SPASTIC PARAPLEGIA 88, AUTOSOMAL DOMINANT (OMIM:620106)
Gene: KPNA3
Phenotype: Urinary urgency (HP:0000012)
Associated disease: SPG37; Autosomal dominant spastic paraplegia type 37 (ORPHA:171612)
Gene: KPNA3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SPASTIC PARAPLEGIA 88, AUTOSOMAL DOMINANT (OMIM:620106)
Gene: KPNA3
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: SPASTIC PARAPLEGIA 88, AUTOSOMAL DOMINANT (OMIM:620106)
Gene: KPNA3
Phenotype: Spinal cord lesion (HP:0100561)
Associated disease: SPG37; Autosomal dominant spastic paraplegia type 37 (ORPHA:171612)
Gene: KPNA3
Phenotype: Muscle spasm (HP:0003394)
Associated disease: SPG37; Autosomal dominant spastic paraplegia type 37 (ORPHA:171612)
Gene: KPNA3
Phenotype: Spastic gait (HP:0002064)
Associated disease: SPG37; Autosomal dominant spastic paraplegia type 37 (ORPHA:171612)
Gene: KPNA3
Phenotype: Lower limb spasticity (HP:0002061)
Associated disease: SPASTIC PARAPLEGIA 88, AUTOSOMAL DOMINANT (OMIM:620106)
Gene: KPNA3
Phenotype: Lower limb spasticity (HP:0002061)
Associated disease: SPG37; Autosomal dominant spastic paraplegia type 37 (ORPHA:171612)
Gene: KPNA3
Phenotype: Babinski sign (HP:0003487)
Associated disease: SPASTIC PARAPLEGIA 88, AUTOSOMAL DOMINANT (OMIM:620106)
Gene: KPNA3
Phenotype: Babinski sign (HP:0003487)
Associated disease: SPG37; Autosomal dominant spastic paraplegia type 37 (ORPHA:171612)
Gene: KPNA3
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: SPASTIC PARAPLEGIA 88, AUTOSOMAL DOMINANT (OMIM:620106)
Gene: KPNA3
Phenotype: EMG abnormality (HP:0003457)
Associated disease: SPG37; Autosomal dominant spastic paraplegia type 37 (ORPHA:171612)
Gene: KPNA3
Phenotype: Clonus (HP:0002169)
Associated disease: SPG37; Autosomal dominant spastic paraplegia type 37 (ORPHA:171612)
Gene: KPNA3
Phenotype: Impaired vibration sensation in the lower limbs (HP:0002166)
Associated disease: SPG37; Autosomal dominant spastic paraplegia type 37 (ORPHA:171612)
Gene: KPNA3
Phenotype: Infantile onset (HP:0003593)
Associated disease: SPASTIC PARAPLEGIA 88, AUTOSOMAL DOMINANT (OMIM:620106)
Gene: KPNA3
Phenotype: Muscle stiffness (HP:0003552)
Associated disease: SPASTIC PARAPLEGIA 88, AUTOSOMAL DOMINANT (OMIM:620106)
Gene: KPNA3
Phenotype: Progressive spastic paraplegia (HP:0007020)
Associated disease: SPG37; Autosomal dominant spastic paraplegia type 37 (ORPHA:171612)
Gene: KPNA3
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: SPASTIC PARAPLEGIA 88, AUTOSOMAL DOMINANT (OMIM:620106)
Gene: KPNA3
Phenotype: Motor axonal neuropathy (HP:0007002)
Associated disease: SPASTIC PARAPLEGIA 88, AUTOSOMAL DOMINANT (OMIM:620106)
Gene: KPNA3
Phenotype: Lower limb hyperreflexia (HP:0002395)
Associated disease: SPASTIC PARAPLEGIA 88, AUTOSOMAL DOMINANT (OMIM:620106)
Gene: KPNA3
Phenotype: Hypoplasia of the brainstem (HP:0002365)
Associated disease: SPASTIC PARAPLEGIA 88, AUTOSOMAL DOMINANT (OMIM:620106)
Gene: KPNA3
Phenotype: Progressive (HP:0003676)
Associated disease: SPASTIC PARAPLEGIA 88, AUTOSOMAL DOMINANT (OMIM:620106)
Gene: KPNA3
Phenotype: Agenesis of cerebellar vermis (HP:0002335)
Associated disease: SPASTIC PARAPLEGIA 88, AUTOSOMAL DOMINANT (OMIM:620106)
Gene: KPNA3
Phenotype: Unsteady gait (HP:0002317)
Associated disease: SPASTIC PARAPLEGIA 88, AUTOSOMAL DOMINANT (OMIM:620106)
Gene: KPNA3
Phenotype: Degeneration of the lateral corticospinal tracts (HP:0002314)
Associated disease: SPG37; Autosomal dominant spastic paraplegia type 37 (ORPHA:171612)
Gene: KPNA3
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: SPASTIC PARAPLEGIA 88, AUTOSOMAL DOMINANT (OMIM:620106)
Gene: KPNA3
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: SPASTIC PARAPLEGIA 88, AUTOSOMAL DOMINANT (OMIM:620106)
Gene: KPNA3
Phenotype: Ankle clonus (HP:0011448)
Associated disease: SPASTIC PARAPLEGIA 88, AUTOSOMAL DOMINANT (OMIM:620106)
Gene: KPNA3
Phenotype: Abnormal lower-limb motor evoked potentials (HP:0012898)
Associated disease: SPG37; Autosomal dominant spastic paraplegia type 37 (ORPHA:171612)
Gene: KPNA3
Phenotype: Fatigue (HP:0012378)
Associated disease: SPG37; Autosomal dominant spastic paraplegia type 37 (ORPHA:171612)
Gene: KPNA3
Phenotype: Distal sensory impairment (HP:0002936)
Associated disease: SPASTIC PARAPLEGIA 88, AUTOSOMAL DOMINANT (OMIM:620106)
Gene: KPNA3
Phenotype: Abnormal cerebrospinal fluid morphology (HP:0002921)
Associated disease: SPG37; Autosomal dominant spastic paraplegia type 37 (ORPHA:171612)
Gene: KPNA3
Phenotype: Pes cavus (HP:0001761)
Associated disease: SPG37; Autosomal dominant spastic paraplegia type 37 (ORPHA:171612)
Gene: KRAS
Phenotype: Brachydactyly (HP:0001156)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: KRAS
Phenotype: Brachydactyly (HP:0001156)
Associated disease: Oculoectodermal syndrome; Aplasia cutis congenita-epibulbar dermoids syndrome (ORPHA:3339)
Gene: KRAS
Phenotype: Brachydactyly (HP:0001156)
Associated disease: NOONAN SYNDROME 3 (OMIM:609942)
Gene: KRAS
Phenotype: Abnormal finger morphology (HP:0001167)
Associated disease: SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME (OMIM:163200)
Gene: KRAS
Phenotype: Giant cell granuloma of mandible (HP:0100955)
Associated disease: OCULOECTODERMAL SYNDROME (OMIM:600268)
Gene: KRAS
Phenotype: Limbal dermoid (HP:0001140)
Associated disease: Oculoectodermal syndrome; Aplasia cutis congenita-epibulbar dermoids syndrome (ORPHA:3339)
Gene: KRAS
Phenotype: Limbal dermoid (HP:0001140)
Associated disease: OCULOECTODERMAL SYNDROME (OMIM:600268)
Gene: KRAS
Phenotype: Visual field defect (HP:0001123)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: KRAS
Phenotype: Tetraplegia (HP:0002445)
Associated disease: Encephalocraniocutaneous lipomatosis; Haberland syndrome (ORPHA:2396)
Gene: KRAS
Phenotype: Dilatation of the renal pelvis (HP:0010946)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: KRAS
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: KRAS
Phenotype: Underdeveloped supraorbital ridges (HP:0009891)
Associated disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Gene: KRAS
Phenotype: Sporadic (HP:0003745)
Associated disease: SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME (OMIM:163200)
Gene: KRAS
Phenotype: Nevus (HP:0003764)
Associated disease: SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME (OMIM:163200)
Gene: KRAS
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KRAS
Phenotype: Cerebral arteriovenous malformation (HP:0002408)
Associated disease: ARTERIOVENOUS MALFORMATIONS OF THE BRAIN (OMIM:108010)
Gene: KRAS
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KRAS
Phenotype: Hypertonia (HP:0001276)
Associated disease: Lynch syndrome (ORPHA:144)
Gene: KRAS
Phenotype: Hypertonia (HP:0001276)
Associated disease: Encephalocraniocutaneous lipomatosis; Haberland syndrome (ORPHA:2396)