TaoMedAI/RareMedData huggingface dataset:
Gene: CENATAC
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 4 (OMIM:620153)
Gene: CENATAC
Phenotype: Mild global developmental delay (HP:0011342)
Associated disease: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 4 (OMIM:620153)
Gene: CENATAC
Phenotype: Abnormality of chromosome stability (HP:0003220)
Associated disease: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 4 (OMIM:620153)
Gene: CENATAC
Phenotype: Microcephaly (HP:0000252)
Associated disease: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 4 (OMIM:620153)
Gene: VSX2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MICROPHTHALMIA, ISOLATED 2 (OMIM:610093)
Gene: VSX2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 3 (OMIM:610092)
Gene: VSX2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MICROPHTHALMIA, ISOLATED 2 (OMIM:610093)
Gene: VSX2
Phenotype: Congenital onset (HP:0003577)
Associated disease: MICROPHTHALMIA, ISOLATED 2 (OMIM:610093)
Gene: VSX2
Phenotype: Iris coloboma (HP:0000612)
Associated disease: MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 3 (OMIM:610092)
Gene: VSX2
Phenotype: Opacification of the corneal stroma (HP:0007759)
Associated disease: MICROPHTHALMIA, ISOLATED 2 (OMIM:610093)
Gene: VSX2
Phenotype: Cataract (HP:0000518)
Associated disease: MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 3 (OMIM:610092)
Gene: VSX2
Phenotype: Microphthalmia (HP:0000568)
Associated disease: MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 3 (OMIM:610092)
Gene: VSX2
Phenotype: Microphthalmia (HP:0000568)
Associated disease: MICROPHTHALMIA, ISOLATED 2 (OMIM:610093)
Gene: TMEM240
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: SPINOCEREBELLAR ATAXIA 21 (OMIM:607454)
Gene: TMEM240
Phenotype: Mental deterioration (HP:0001268)
Associated disease: SPINOCEREBELLAR ATAXIA 21 (OMIM:607454)
Gene: TMEM240
Phenotype: Ataxia (HP:0001251)
Associated disease: SPINOCEREBELLAR ATAXIA 21 (OMIM:607454)
Gene: TMEM240
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Spinocerebellar ataxia type 21; SCA21 (ORPHA:98773)
Gene: TMEM240
Phenotype: Intellectual disability (HP:0001249)
Associated disease: SPINOCEREBELLAR ATAXIA 21 (OMIM:607454)
Gene: TMEM240
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: SPINOCEREBELLAR ATAXIA 21 (OMIM:607454)
Gene: TMEM240
Phenotype: Dysarthria (HP:0001260)
Associated disease: Spinocerebellar ataxia type 21; SCA21 (ORPHA:98773)
Gene: TMEM240
Phenotype: Dysarthria (HP:0001260)
Associated disease: SPINOCEREBELLAR ATAXIA 21 (OMIM:607454)
Gene: TMEM240
Phenotype: Global developmental delay (HP:0001263)
Associated disease: SPINOCEREBELLAR ATAXIA 21 (OMIM:607454)
Gene: TMEM240
Phenotype: Hypermetric saccades (HP:0007338)
Associated disease: SPINOCEREBELLAR ATAXIA 21 (OMIM:607454)
Gene: TMEM240
Phenotype: Dystonia (HP:0001332)
Associated disease: SPINOCEREBELLAR ATAXIA 21 (OMIM:607454)
Gene: TMEM240
Phenotype: Tremor (HP:0001337)
Associated disease: Spinocerebellar ataxia type 21; SCA21 (ORPHA:98773)
Gene: TMEM240
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SPINOCEREBELLAR ATAXIA 21 (OMIM:607454)
Gene: TMEM240
Phenotype: Parkinsonism (HP:0001300)
Associated disease: SPINOCEREBELLAR ATAXIA 21 (OMIM:607454)
Gene: TMEM240
Phenotype: Intention tremor (HP:0002080)
Associated disease: SPINOCEREBELLAR ATAXIA 21 (OMIM:607454)
Gene: TMEM240
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Spinocerebellar ataxia type 21; SCA21 (ORPHA:98773)
Gene: TMEM240
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: SPINOCEREBELLAR ATAXIA 21 (OMIM:607454)
Gene: TMEM240
Phenotype: Gait ataxia (HP:0002066)
Associated disease: Spinocerebellar ataxia type 21; SCA21 (ORPHA:98773)
Gene: TMEM240
Phenotype: Gait ataxia (HP:0002066)
Associated disease: SPINOCEREBELLAR ATAXIA 21 (OMIM:607454)
Gene: TMEM240
Phenotype: Rigidity (HP:0002063)
Associated disease: Spinocerebellar ataxia type 21; SCA21 (ORPHA:98773)
Gene: TMEM240
Phenotype: Progressive cerebellar ataxia (HP:0002073)
Associated disease: Spinocerebellar ataxia type 21; SCA21 (ORPHA:98773)
Gene: TMEM240
Phenotype: Progressive cerebellar ataxia (HP:0002073)
Associated disease: SPINOCEREBELLAR ATAXIA 21 (OMIM:607454)
Gene: TMEM240
Phenotype: Limb ataxia (HP:0002070)
Associated disease: SPINOCEREBELLAR ATAXIA 21 (OMIM:607454)
Gene: TMEM240
Phenotype: Abnormality of extrapyramidal motor function (HP:0002071)
Associated disease: Spinocerebellar ataxia type 21; SCA21 (ORPHA:98773)
Gene: TMEM240
Phenotype: Abnormality of extrapyramidal motor function (HP:0002071)
Associated disease: SPINOCEREBELLAR ATAXIA 21 (OMIM:607454)
Gene: TMEM240
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: SPINOCEREBELLAR ATAXIA 21 (OMIM:607454)
Gene: TMEM240
Phenotype: Scanning speech (HP:0002168)
Associated disease: SPINOCEREBELLAR ATAXIA 21 (OMIM:607454)
Gene: TMEM240
Phenotype: Postural tremor (HP:0002174)
Associated disease: SPINOCEREBELLAR ATAXIA 21 (OMIM:607454)
Gene: TMEM240
Phenotype: Opsoclonus (HP:0010543)
Associated disease: SPINOCEREBELLAR ATAXIA 21 (OMIM:607454)
Gene: TMEM240
Phenotype: Dysgraphia (HP:0010526)
Associated disease: Spinocerebellar ataxia type 21; SCA21 (ORPHA:98773)
Gene: TMEM240
Phenotype: Dysgraphia (HP:0010526)
Associated disease: SPINOCEREBELLAR ATAXIA 21 (OMIM:607454)
Gene: TMEM240
Phenotype: Middle age onset (HP:0003596)
Associated disease: SPINOCEREBELLAR ATAXIA 21 (OMIM:607454)
Gene: TMEM240
Phenotype: Impulsivity (HP:0100710)
Associated disease: SPINOCEREBELLAR ATAXIA 21 (OMIM:607454)
Gene: TMEM240
Phenotype: Cogwheel rigidity (HP:0002396)
Associated disease: SPINOCEREBELLAR ATAXIA 21 (OMIM:607454)
Gene: TMEM240
Phenotype: Slowly progressive (HP:0003677)
Associated disease: SPINOCEREBELLAR ATAXIA 21 (OMIM:607454)
Gene: TMEM240
Phenotype: Neonatal onset (HP:0003623)
Associated disease: SPINOCEREBELLAR ATAXIA 21 (OMIM:607454)
Gene: TMEM240
Phenotype: Akinesia (HP:0002304)
Associated disease: Spinocerebellar ataxia type 21; SCA21 (ORPHA:98773)
Gene: TMEM240
Phenotype: Akinesia (HP:0002304)
Associated disease: SPINOCEREBELLAR ATAXIA 21 (OMIM:607454)
Gene: TMEM240
Phenotype: Cerebellar vermis atrophy (HP:0006855)
Associated disease: Spinocerebellar ataxia type 21; SCA21 (ORPHA:98773)
Gene: TMEM240
Phenotype: Nystagmus (HP:0000639)
Associated disease: Spinocerebellar ataxia type 21; SCA21 (ORPHA:98773)
Gene: TMEM240
Phenotype: Nystagmus (HP:0000639)
Associated disease: SPINOCEREBELLAR ATAXIA 21 (OMIM:607454)
Gene: TMEM240
Phenotype: Diplopia (HP:0000651)
Associated disease: Spinocerebellar ataxia type 21; SCA21 (ORPHA:98773)
Gene: TMEM240
Phenotype: Apathy (HP:0000741)
Associated disease: SPINOCEREBELLAR ATAXIA 21 (OMIM:607454)
Gene: TMEM240
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: SPINOCEREBELLAR ATAXIA 21 (OMIM:607454)
Gene: TMEM240
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Spinocerebellar ataxia type 21; SCA21 (ORPHA:98773)
Gene: TMEM240
Phenotype: Childhood onset (HP:0011463)
Associated disease: SPINOCEREBELLAR ATAXIA 21 (OMIM:607454)
Gene: TMEM240
Phenotype: Microsaccadic pursuit (HP:0007792)
Associated disease: SPINOCEREBELLAR ATAXIA 21 (OMIM:607454)
Gene: TMEM240
Phenotype: Intermittent microsaccadic pursuits (HP:0007944)
Associated disease: Spinocerebellar ataxia type 21; SCA21 (ORPHA:98773)
Gene: TMEM240
Phenotype: Strabismus (HP:0000486)
Associated disease: SPINOCEREBELLAR ATAXIA 21 (OMIM:607454)
Gene: TMEM240
Phenotype: Slow saccadic eye movements (HP:0000514)
Associated disease: SPINOCEREBELLAR ATAXIA 21 (OMIM:607454)
Gene: CCDC39
Phenotype: Peribronchovascular interstitial thickening (HP:0025177)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CCDC39
Phenotype: Intestinal malrotation (HP:0002566)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CCDC39
Phenotype: Clubbing (HP:0001217)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CCDC39
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 14 (OMIM:613807)
Gene: CCDC39
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 14 (OMIM:613807)
Gene: CCDC39
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CCDC39
Phenotype: Abnormality of the genitourinary system (HP:0000119)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CCDC39
Phenotype: Lithoptysis (HP:0032543)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CCDC39
Phenotype: Productive cough (HP:0031245)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CCDC39
Phenotype: Morphological central nervous system abnormality (HP:0002011)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CCDC39
Phenotype: Nasal polyposis (HP:0100582)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CCDC39
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CCDC39
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 14 (OMIM:613807)
Gene: CCDC39
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CCDC39
Phenotype: Female infertility (HP:0008222)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CCDC39
Phenotype: Infantile onset (HP:0003593)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 14 (OMIM:613807)
Gene: CCDC39
Phenotype: Congenital onset (HP:0003577)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 14 (OMIM:613807)
Gene: CCDC39
Phenotype: Chronic rhinitis (HP:0002257)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CCDC39
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 14 (OMIM:613807)
Gene: CCDC39
Phenotype: Atelectasis (HP:0100750)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CCDC39
Phenotype: Abnormal sputum (HP:0032016)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CCDC39
Phenotype: Respiratory tract infection (HP:0011947)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CCDC39
Phenotype: Anomalous pulmonary venous return (HP:0010772)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CCDC39
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 14 (OMIM:613807)
Gene: CCDC39
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CCDC39
Phenotype: Cough (HP:0012735)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 14 (OMIM:613807)
Gene: CCDC39
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CCDC39
Phenotype: Childhood onset (HP:0011463)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 14 (OMIM:613807)
Gene: CCDC39
Phenotype: Young adult onset (HP:0011462)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 14 (OMIM:613807)
Gene: CCDC39
Phenotype: Abnormality of the skeletal system (HP:0000924)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CCDC39
Phenotype: Chronic bronchitis (HP:0004469)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 14 (OMIM:613807)
Gene: CCDC39
Phenotype: Atrial situs ambiguous (HP:0011539)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CCDC39
Phenotype: Abnormal atrial arrangement (HP:0011535)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CCDC39
Phenotype: Heterotaxy (HP:0030853)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 14 (OMIM:613807)
Gene: CCDC39
Phenotype: Wheezing (HP:0030828)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CCDC39
Phenotype: Wheezing (HP:0030828)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 14 (OMIM:613807)
Gene: CCDC39
Phenotype: Male infertility (HP:0003251)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 14 (OMIM:613807)
Gene: CCDC39
Phenotype: Male infertility (HP:0003251)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CCDC39
Phenotype: Pulmonary situs ambiguus (HP:0011617)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CCDC39
Phenotype: Abnormal inferior vena cava morphology (HP:0025576)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CCDC39
Phenotype: Absent inner dynein arms (HP:0012257)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 14 (OMIM:613807)
Gene: CCDC39
Phenotype: Abnormal axonemal organization of respiratory motile cilia (HP:0012258)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 14 (OMIM:613807)
Gene: CCDC39
Phenotype: Ciliary dyskinesia (HP:0012265)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 14 (OMIM:613807)
Gene: CCDC39
Phenotype: Abnormal ciliary motility (HP:0012262)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 14 (OMIM:613807)
Gene: CCDC39
Phenotype: Rhinorrhea (HP:0031417)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 14 (OMIM:613807)
Gene: CCDC39
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CCDC39
Phenotype: Abnormal sperm motility (HP:0012206)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CCDC39
Phenotype: Reduced sperm motility (HP:0012207)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 14 (OMIM:613807)
Gene: CCDC39
Phenotype: Immotile sperm (HP:0012208)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 14 (OMIM:613807)
Gene: CCDC39
Phenotype: Respiratory failure (HP:0002878)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CCDC39
Phenotype: Chronic otitis media (HP:0000389)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CCDC39
Phenotype: Otitis media (HP:0000388)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 14 (OMIM:613807)
Gene: CCDC39
Phenotype: Recurrent pneumonia (HP:0006532)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 14 (OMIM:613807)
Gene: CCDC39
Phenotype: Airway obstruction (HP:0006536)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CCDC39
Phenotype: Situs inversus totalis (HP:0001696)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CCDC39
Phenotype: Situs inversus totalis (HP:0001696)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 14 (OMIM:613807)
Gene: CCDC39
Phenotype: Hearing impairment (HP:0000365)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CCDC39
Phenotype: Transposition of the great arteries (HP:0001669)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CCDC39
Phenotype: Ectopic pregnancy (HP:0031456)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CCDC39
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CCDC39
Phenotype: Persistent left superior vena cava (HP:0005301)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CCDC39
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CCDC39
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CCDC39
Phenotype: Double outlet right ventricle (HP:0001719)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CCDC39
Phenotype: Chronic sinusitis (HP:0011109)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CCDC39
Phenotype: Chronic sinusitis (HP:0011109)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 14 (OMIM:613807)
Gene: CCDC39
Phenotype: Asplenia (HP:0001746)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CCDC39
Phenotype: Polysplenia (HP:0001748)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CCDC39
Phenotype: Polysplenia (HP:0001748)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 14 (OMIM:613807)
Gene: CCDC39
Phenotype: Nasal congestion (HP:0001742)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CCDC39
Phenotype: Recurrent sinopulmonary infections (HP:0005425)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CCDC39
Phenotype: Recurrent mycobacterial infections (HP:0011274)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CCDC39
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: KY
Phenotype: Nemaline bodies (HP:0003798)
Associated disease: MYOPATHY, MYOFIBRILLAR, 7 (OMIM:617114)
Gene: KY
Phenotype: Z-band streaming (HP:0020203)
Associated disease: MYOPATHY, MYOFIBRILLAR, 7 (OMIM:617114)
Gene: KY
Phenotype: Lower limb amyotrophy (HP:0007210)
Associated disease: Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome; Kyphoscoliosis-lateral tongue atrophy-HSP syndrome (ORPHA:496689)
Gene: KY
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome; Kyphoscoliosis-lateral tongue atrophy-HSP syndrome (ORPHA:496689)
Gene: KY
Phenotype: Gait disturbance (HP:0001288)
Associated disease: MYOPATHY, MYOFIBRILLAR, 7 (OMIM:617114)
Gene: KY
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome; Kyphoscoliosis-lateral tongue atrophy-HSP syndrome (ORPHA:496689)
Gene: KY
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: MYOPATHY, MYOFIBRILLAR, 7 (OMIM:617114)
Gene: KY
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MYOPATHY, MYOFIBRILLAR, 7 (OMIM:617114)
Gene: KY
Phenotype: Flexion contracture (HP:0001371)
Associated disease: MYOPATHY, MYOFIBRILLAR, 7 (OMIM:617114)
Gene: KY
Phenotype: Urinary incontinence (HP:0000020)
Associated disease: MYOPATHY, MYOFIBRILLAR, 7 (OMIM:617114)
Gene: KY
Phenotype: Muscle weakness (HP:0001324)
Associated disease: MYOPATHY, MYOFIBRILLAR, 7 (OMIM:617114)
Gene: KY
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MYOPATHY, MYOFIBRILLAR, 7 (OMIM:617114)
Gene: KY
Phenotype: Scoliosis (HP:0002650)
Associated disease: MYOPATHY, MYOFIBRILLAR, 7 (OMIM:617114)
Gene: KY
Phenotype: Bowel incontinence (HP:0002607)
Associated disease: MYOPATHY, MYOFIBRILLAR, 7 (OMIM:617114)
Gene: KY
Phenotype: Increased circulating lactate dehydrogenase concentration (HP:0025435)
Associated disease: MYOPATHY, MYOFIBRILLAR, 7 (OMIM:617114)
Gene: KY
Phenotype: Proximal muscle weakness in upper limbs (HP:0008997)
Associated disease: Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome; Kyphoscoliosis-lateral tongue atrophy-HSP syndrome (ORPHA:496689)
Gene: KY
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome; Kyphoscoliosis-lateral tongue atrophy-HSP syndrome (ORPHA:496689)
Gene: KY
Phenotype: Myalgia (HP:0003326)
Associated disease: MYOPATHY, MYOFIBRILLAR, 7 (OMIM:617114)
Gene: KY
Phenotype: Dysphagia (HP:0002015)
Associated disease: MYOPATHY, MYOFIBRILLAR, 7 (OMIM:617114)
Gene: KY
Phenotype: Dysphagia (HP:0002015)
Associated disease: Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome; Kyphoscoliosis-lateral tongue atrophy-HSP syndrome (ORPHA:496689)
Gene: KY
Phenotype: Spinal rigidity (HP:0003306)
Associated disease: MYOPATHY, MYOFIBRILLAR, 7 (OMIM:617114)
Gene: KY
Phenotype: Muscle spasm (HP:0003394)
Associated disease: Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome; Kyphoscoliosis-lateral tongue atrophy-HSP syndrome (ORPHA:496689)
Gene: KY
Phenotype: Lower limb spasticity (HP:0002061)
Associated disease: Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome; Kyphoscoliosis-lateral tongue atrophy-HSP syndrome (ORPHA:496689)
Gene: KY
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome; Kyphoscoliosis-lateral tongue atrophy-HSP syndrome (ORPHA:496689)
Gene: KY
Phenotype: Babinski sign (HP:0003487)
Associated disease: Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome; Kyphoscoliosis-lateral tongue atrophy-HSP syndrome (ORPHA:496689)
Gene: KY
Phenotype: Type 2 muscle fiber predominance (HP:0010602)
Associated disease: MYOPATHY, MYOFIBRILLAR, 7 (OMIM:617114)
Gene: KY
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome; Kyphoscoliosis-lateral tongue atrophy-HSP syndrome (ORPHA:496689)
Gene: KY
Phenotype: Congenital onset (HP:0003577)
Associated disease: MYOPATHY, MYOFIBRILLAR, 7 (OMIM:617114)
Gene: KY
Phenotype: Increased variability in muscle fiber diameter (HP:0003557)
Associated disease: MYOPATHY, MYOFIBRILLAR, 7 (OMIM:617114)
Gene: KY
Phenotype: Enuresis nocturna (HP:0010677)
Associated disease: MYOPATHY, MYOFIBRILLAR, 7 (OMIM:617114)
Gene: KY
Phenotype: Progressive spastic paraplegia (HP:0007020)
Associated disease: Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome; Kyphoscoliosis-lateral tongue atrophy-HSP syndrome (ORPHA:496689)
Gene: KY
Phenotype: Facial palsy (HP:0010628)
Associated disease: MYOPATHY, MYOFIBRILLAR, 7 (OMIM:617114)
Gene: KY
Phenotype: Lower limb hyperreflexia (HP:0002395)
Associated disease: Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome; Kyphoscoliosis-lateral tongue atrophy-HSP syndrome (ORPHA:496689)
Gene: KY
Phenotype: Difficulty standing (HP:0003698)
Associated disease: Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome; Kyphoscoliosis-lateral tongue atrophy-HSP syndrome (ORPHA:496689)
Gene: KY
Phenotype: Slowly progressive (HP:0003677)
Associated disease: MYOPATHY, MYOFIBRILLAR, 7 (OMIM:617114)
Gene: KY
Phenotype: Difficulty running (HP:0009046)
Associated disease: Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome; Kyphoscoliosis-lateral tongue atrophy-HSP syndrome (ORPHA:496689)
Gene: KY
Phenotype: Foot dorsiflexor weakness (HP:0009027)
Associated disease: MYOPATHY, MYOFIBRILLAR, 7 (OMIM:617114)
Gene: KY
Phenotype: Shoulder flexion contracture (HP:0003044)
Associated disease: MYOPATHY, MYOFIBRILLAR, 7 (OMIM:617114)
Gene: KY
Phenotype: Atypical behavior (HP:0000708)
Associated disease: MYOPATHY, MYOFIBRILLAR, 7 (OMIM:617114)
Gene: KY
Phenotype: Upper limb amyotrophy (HP:0009129)
Associated disease: Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome; Kyphoscoliosis-lateral tongue atrophy-HSP syndrome (ORPHA:496689)
Gene: KY
Phenotype: Limited hip extension (HP:0003093)
Associated disease: MYOPATHY, MYOFIBRILLAR, 7 (OMIM:617114)
Gene: KY
Phenotype: Abnormal circulating creatine kinase concentration (HP:0040081)
Associated disease: Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome; Kyphoscoliosis-lateral tongue atrophy-HSP syndrome (ORPHA:496689)
Gene: KY
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: MYOPATHY, MYOFIBRILLAR, 7 (OMIM:617114)
Gene: KY
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: MYOPATHY, MYOFIBRILLAR, 7 (OMIM:617114)
Gene: KY
Phenotype: Increased Z-disc width (HP:0033008)
Associated disease: MYOPATHY, MYOFIBRILLAR, 7 (OMIM:617114)
Gene: KY
Phenotype: Multiple joint contractures (HP:0002828)
Associated disease: MYOPATHY, MYOFIBRILLAR, 7 (OMIM:617114)
Gene: KY
Phenotype: Knee flexion contracture (HP:0006380)
Associated disease: Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome; Kyphoscoliosis-lateral tongue atrophy-HSP syndrome (ORPHA:496689)
Gene: KY
Phenotype: Tip-toe gait (HP:0030051)
Associated disease: Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome; Kyphoscoliosis-lateral tongue atrophy-HSP syndrome (ORPHA:496689)
Gene: KY
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: MYOPATHY, MYOFIBRILLAR, 7 (OMIM:617114)