TaoMedAI/RareMedData huggingface dataset:
Gene: IPO8
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: IPO8
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: IPO8
Phenotype: Deeply set eye (HP:0000490)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: IPO8
Phenotype: Deeply set eye (HP:0000490)
Associated disease: VISS SYNDROME (OMIM:619472)
Gene: IPO8
Phenotype: Anteverted nares (HP:0000463)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: IPO8
Phenotype: Chronic constipation (HP:0012450)
Associated disease: VISS SYNDROME (OMIM:619472)
Gene: IPO8
Phenotype: Narrow foot (HP:0001786)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: IPO8
Phenotype: Short neck (HP:0000470)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: IPO8
Phenotype: Pes planus (HP:0001763)
Associated disease: Loeys-Dietz syndrome; Aortic aneurysm syndrome due to TGF-beta receptors anomalies (ORPHA:60030)
Gene: IPO8
Phenotype: Pes planus (HP:0001763)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: IPO8
Phenotype: Pes planus (HP:0001763)
Associated disease: VISS SYNDROME (OMIM:619472)
Gene: IPO8
Phenotype: Pes planus (HP:0001763)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: IPO8
Phenotype: Hammertoe (HP:0001765)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: IPO8
Phenotype: Convex nasal ridge (HP:0000444)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: IPO8
Phenotype: Narrow nasal ridge (HP:0000418)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: IPO8
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: IPO8
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: IPO8
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: VISS SYNDROME (OMIM:619472)
Gene: IPO8
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: Loeys-Dietz syndrome; Aortic aneurysm syndrome due to TGF-beta receptors anomalies (ORPHA:60030)
Gene: IPO8
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: IPO8
Phenotype: Pes cavus (HP:0001761)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: IPO8
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: VISS SYNDROME (OMIM:619472)
Gene: IPO8
Phenotype: Cataract (HP:0000518)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: IPO8
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: IPO8
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: IPO8
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: IPO8
Phenotype: Foot acroosteolysis (HP:0001842)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: IPO8
Phenotype: Proptosis (HP:0000520)
Associated disease: VISS SYNDROME (OMIM:619472)
Gene: IPO8
Phenotype: Proptosis (HP:0000520)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: IPO8
Phenotype: Rocker bottom foot (HP:0001838)
Associated disease: VISS SYNDROME (OMIM:619472)
Gene: IPO8
Phenotype: Telecanthus (HP:0000506)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: IPO8
Phenotype: Ptosis (HP:0000508)
Associated disease: VISS SYNDROME (OMIM:619472)
Gene: IPO8
Phenotype: Ptosis (HP:0000508)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: IPO8
Phenotype: Camptodactyly of toe (HP:0001836)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: IPO8
Phenotype: Glaucoma (HP:0000501)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: IPO8
Phenotype: Blepharophimosis (HP:0000581)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: IPO8
Phenotype: Exotropia (HP:0000577)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: IPO8
Phenotype: Blue sclerae (HP:0000592)
Associated disease: VISS SYNDROME (OMIM:619472)
Gene: IPO8
Phenotype: Blue sclerae (HP:0000592)
Associated disease: Loeys-Dietz syndrome; Aortic aneurysm syndrome due to TGF-beta receptors anomalies (ORPHA:60030)
Gene: IPO8
Phenotype: Shallow orbits (HP:0000586)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: IPO8
Phenotype: Abnormal bleeding (HP:0001892)
Associated disease: Loeys-Dietz syndrome; Aortic aneurysm syndrome due to TGF-beta receptors anomalies (ORPHA:60030)
Gene: IPO8
Phenotype: Keratoconus (HP:0000563)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: IPO8
Phenotype: Keratoconus (HP:0000563)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: IPO8
Phenotype: Prominent forehead (HP:0011220)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: IPO8
Phenotype: Esotropia (HP:0000565)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: IPO8
Phenotype: Retinal detachment (HP:0000541)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: IPO8
Phenotype: Retinal detachment (HP:0000541)
Associated disease: VISS SYNDROME (OMIM:619472)
Gene: IPO8
Phenotype: Talipes (HP:0001883)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: IPO8
Phenotype: Myopia (HP:0000545)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: IPO8
Phenotype: Myopia (HP:0000545)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: IPO8
Phenotype: Myopia (HP:0000545)
Associated disease: Loeys-Dietz syndrome; Aortic aneurysm syndrome due to TGF-beta receptors anomalies (ORPHA:60030)
Gene: IPO8
Phenotype: Myopia (HP:0000545)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: IPO8
Phenotype: Myopia (HP:0000545)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: NOP56
Phenotype: Hypertonia (HP:0001276)
Associated disease: SPINOCEREBELLAR ATAXIA 36 (OMIM:614153)
Gene: NOP56
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: SPINOCEREBELLAR ATAXIA 36 (OMIM:614153)
Gene: NOP56
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Spinocerebellar ataxia type 36; SCA36; Asidan (ORPHA:276198)
Gene: NOP56
Phenotype: Hypotonia (HP:0001252)
Associated disease: SPINOCEREBELLAR ATAXIA 36 (OMIM:614153)
Gene: NOP56
Phenotype: Ataxia (HP:0001251)
Associated disease: SPINOCEREBELLAR ATAXIA 36 (OMIM:614153)
Gene: NOP56
Phenotype: Ataxia (HP:0001251)
Associated disease: Spinocerebellar ataxia type 36; SCA36; Asidan (ORPHA:276198)
Gene: NOP56
Phenotype: Dysarthria (HP:0001260)
Associated disease: SPINOCEREBELLAR ATAXIA 36 (OMIM:614153)
Gene: NOP56
Phenotype: Dysarthria (HP:0001260)
Associated disease: Spinocerebellar ataxia type 36; SCA36; Asidan (ORPHA:276198)
Gene: NOP56
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: SPINOCEREBELLAR ATAXIA 36 (OMIM:614153)
Gene: NOP56
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Spinocerebellar ataxia type 36; SCA36; Asidan (ORPHA:276198)
Gene: NOP56
Phenotype: Muscle weakness (HP:0001324)
Associated disease: SPINOCEREBELLAR ATAXIA 36 (OMIM:614153)
Gene: NOP56
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SPINOCEREBELLAR ATAXIA 36 (OMIM:614153)
Gene: NOP56
Phenotype: Dysmetria (HP:0001310)
Associated disease: Spinocerebellar ataxia type 36; SCA36; Asidan (ORPHA:276198)
Gene: NOP56
Phenotype: Tongue fasciculations (HP:0001308)
Associated disease: SPINOCEREBELLAR ATAXIA 36 (OMIM:614153)
Gene: NOP56
Phenotype: Tongue fasciculations (HP:0001308)
Associated disease: Spinocerebellar ataxia type 36; SCA36; Asidan (ORPHA:276198)
Gene: NOP56
Phenotype: Bowel incontinence (HP:0002607)
Associated disease: Spinocerebellar ataxia type 36; SCA36; Asidan (ORPHA:276198)
Gene: NOP56
Phenotype: Dysphagia (HP:0002015)
Associated disease: SPINOCEREBELLAR ATAXIA 36 (OMIM:614153)
Gene: NOP56
Phenotype: Dysphagia (HP:0002015)
Associated disease: Spinocerebellar ataxia type 36; SCA36; Asidan (ORPHA:276198)
Gene: NOP56
Phenotype: Intention tremor (HP:0002080)
Associated disease: Spinocerebellar ataxia type 36; SCA36; Asidan (ORPHA:276198)
Gene: NOP56
Phenotype: Gait ataxia (HP:0002066)
Associated disease: SPINOCEREBELLAR ATAXIA 36 (OMIM:614153)
Gene: NOP56
Phenotype: Truncal ataxia (HP:0002078)
Associated disease: SPINOCEREBELLAR ATAXIA 36 (OMIM:614153)
Gene: NOP56
Phenotype: Truncal ataxia (HP:0002078)
Associated disease: Spinocerebellar ataxia type 36; SCA36; Asidan (ORPHA:276198)
Gene: NOP56
Phenotype: Migraine (HP:0002076)
Associated disease: Spinocerebellar ataxia type 36; SCA36; Asidan (ORPHA:276198)
Gene: NOP56
Phenotype: Limb ataxia (HP:0002070)
Associated disease: SPINOCEREBELLAR ATAXIA 36 (OMIM:614153)
Gene: NOP56
Phenotype: Limb ataxia (HP:0002070)
Associated disease: Spinocerebellar ataxia type 36; SCA36; Asidan (ORPHA:276198)
Gene: NOP56
Phenotype: Babinski sign (HP:0003487)
Associated disease: SPINOCEREBELLAR ATAXIA 36 (OMIM:614153)
Gene: NOP56
Phenotype: Babinski sign (HP:0003487)
Associated disease: Spinocerebellar ataxia type 36; SCA36; Asidan (ORPHA:276198)
Gene: NOP56
Phenotype: EMG: neuropathic changes (HP:0003445)
Associated disease: SPINOCEREBELLAR ATAXIA 36 (OMIM:614153)
Gene: NOP56
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: Spinocerebellar ataxia type 36; SCA36; Asidan (ORPHA:276198)
Gene: NOP56
Phenotype: Loss of Purkinje cells in the cerebellar vermis (HP:0007001)
Associated disease: Spinocerebellar ataxia type 36; SCA36; Asidan (ORPHA:276198)
Gene: NOP56
Phenotype: Fasciculations (HP:0002380)
Associated disease: SPINOCEREBELLAR ATAXIA 36 (OMIM:614153)
Gene: NOP56
Phenotype: Fasciculations (HP:0002380)
Associated disease: Spinocerebellar ataxia type 36; SCA36; Asidan (ORPHA:276198)
Gene: NOP56
Phenotype: Hand tremor (HP:0002378)
Associated disease: Spinocerebellar ataxia type 36; SCA36; Asidan (ORPHA:276198)
Gene: NOP56
Phenotype: Progressive (HP:0003676)
Associated disease: SPINOCEREBELLAR ATAXIA 36 (OMIM:614153)
Gene: NOP56
Phenotype: Head tremor (HP:0002346)
Associated disease: Spinocerebellar ataxia type 36; SCA36; Asidan (ORPHA:276198)
Gene: NOP56
Phenotype: Vertigo (HP:0002321)
Associated disease: Spinocerebellar ataxia type 36; SCA36; Asidan (ORPHA:276198)
Gene: NOP56
Phenotype: Incoordination (HP:0002311)
Associated disease: SPINOCEREBELLAR ATAXIA 36 (OMIM:614153)
Gene: NOP56
Phenotype: Nystagmus (HP:0000639)
Associated disease: SPINOCEREBELLAR ATAXIA 36 (OMIM:614153)
Gene: NOP56
Phenotype: Diplopia (HP:0000651)
Associated disease: Spinocerebellar ataxia type 36; SCA36; Asidan (ORPHA:276198)
Gene: NOP56
Phenotype: Blurred vision (HP:0000622)
Associated disease: Spinocerebellar ataxia type 36; SCA36; Asidan (ORPHA:276198)
Gene: NOP56
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: SPINOCEREBELLAR ATAXIA 36 (OMIM:614153)
Gene: NOP56
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: Spinocerebellar ataxia type 36; SCA36; Asidan (ORPHA:276198)
Gene: NOP56
Phenotype: Limb myoclonus (HP:0045084)
Associated disease: Spinocerebellar ataxia type 36; SCA36; Asidan (ORPHA:276198)
Gene: NOP56
Phenotype: Impaired smooth pursuit (HP:0007772)
Associated disease: SPINOCEREBELLAR ATAXIA 36 (OMIM:614153)
Gene: NOP56
Phenotype: Hearing impairment (HP:0000365)
Associated disease: SPINOCEREBELLAR ATAXIA 36 (OMIM:614153)
Gene: NOP56
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Spinocerebellar ataxia type 36; SCA36; Asidan (ORPHA:276198)
Gene: NOP56
Phenotype: Tongue atrophy (HP:0012473)
Associated disease: SPINOCEREBELLAR ATAXIA 36 (OMIM:614153)
Gene: NOP56
Phenotype: Tongue atrophy (HP:0012473)
Associated disease: Spinocerebellar ataxia type 36; SCA36; Asidan (ORPHA:276198)
Gene: NOP56
Phenotype: Slow saccadic eye movements (HP:0000514)
Associated disease: SPINOCEREBELLAR ATAXIA 36 (OMIM:614153)
Gene: NOP56
Phenotype: Slow saccadic eye movements (HP:0000514)
Associated disease: Spinocerebellar ataxia type 36; SCA36; Asidan (ORPHA:276198)
Gene: NOP56
Phenotype: Vertical supranuclear gaze palsy (HP:0000511)
Associated disease: SPINOCEREBELLAR ATAXIA 36 (OMIM:614153)
Gene: NOP56
Phenotype: Ptosis (HP:0000508)
Associated disease: SPINOCEREBELLAR ATAXIA 36 (OMIM:614153)
Gene: NOP56
Phenotype: Ptosis (HP:0000508)
Associated disease: Spinocerebellar ataxia type 36; SCA36; Asidan (ORPHA:276198)
Gene: PITRM1
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 30 (OMIM:619405)
Gene: PITRM1
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 30 (OMIM:619405)
Gene: PITRM1
Phenotype: Ataxia (HP:0001251)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 30 (OMIM:619405)
Gene: PITRM1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 30 (OMIM:619405)
Gene: PITRM1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 30 (OMIM:619405)
Gene: PITRM1
Phenotype: Brisk reflexes (HP:0001348)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 30 (OMIM:619405)
Gene: PITRM1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 30 (OMIM:619405)
Gene: PITRM1
Phenotype: Tremor (HP:0001337)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 30 (OMIM:619405)
Gene: PITRM1
Phenotype: Dysmetria (HP:0001310)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 30 (OMIM:619405)
Gene: PITRM1
Phenotype: Increased circulating lactate dehydrogenase concentration (HP:0025435)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 30 (OMIM:619405)
Gene: PITRM1
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 30 (OMIM:619405)
Gene: PITRM1
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 30 (OMIM:619405)
Gene: PITRM1
Phenotype: Infantile onset (HP:0003593)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 30 (OMIM:619405)
Gene: PITRM1
Phenotype: Increased circulating pyruvate concentration (HP:0003542)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 30 (OMIM:619405)
Gene: PITRM1
Phenotype: Unsteady gait (HP:0002317)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 30 (OMIM:619405)
Gene: PITRM1
Phenotype: Compulsive behaviors (HP:0000722)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 30 (OMIM:619405)
Gene: PITRM1
Phenotype: Psychotic episodes (HP:0000725)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 30 (OMIM:619405)
Gene: PITRM1
Phenotype: Childhood onset (HP:0011463)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 30 (OMIM:619405)
Gene: PITRM1
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 30 (OMIM:619405)
Gene: PITRM1
Phenotype: Titubation (HP:0030187)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 30 (OMIM:619405)
Gene: ATG7
Phenotype: Bilateral sensorineural hearing impairment (HP:0008619)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31 (OMIM:619422)
Gene: ATG7
Phenotype: Bruxism (HP:0003763)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31 (OMIM:619422)
Gene: ATG7
Phenotype: Encephalopathy (HP:0001298)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31 (OMIM:619422)
Gene: ATG7
Phenotype: Seizure (HP:0001250)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31 (OMIM:619422)
Gene: ATG7
Phenotype: Ataxia (HP:0001251)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31 (OMIM:619422)
Gene: ATG7
Phenotype: Choreoathetosis (HP:0001266)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31 (OMIM:619422)
Gene: ATG7
Phenotype: Dysarthria (HP:0001260)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31 (OMIM:619422)
Gene: ATG7
Phenotype: Death in childhood (HP:0003819)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31 (OMIM:619422)
Gene: ATG7
Phenotype: Dystonia (HP:0001332)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31 (OMIM:619422)
Gene: ATG7
Phenotype: Muscle weakness (HP:0001324)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31 (OMIM:619422)
Gene: ATG7
Phenotype: Absent speech (HP:0001344)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31 (OMIM:619422)
Gene: ATG7
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31 (OMIM:619422)
Gene: ATG7
Phenotype: Tremor (HP:0001337)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31 (OMIM:619422)
Gene: ATG7
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31 (OMIM:619422)
Gene: ATG7
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31 (OMIM:619422)
Gene: ATG7
Phenotype: Dysphagia (HP:0002015)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31 (OMIM:619422)
Gene: ATG7
Phenotype: Lumbar kyphoscoliosis (HP:0004619)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31 (OMIM:619422)
Gene: ATG7
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31 (OMIM:619422)
Gene: ATG7
Phenotype: Infantile onset (HP:0003593)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31 (OMIM:619422)
Gene: ATG7
Phenotype: Schizophrenia (HP:0100753)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31 (OMIM:619422)
Gene: ATG7
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31 (OMIM:619422)
Gene: ATG7
Phenotype: Dyskinesia (HP:0100660)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31 (OMIM:619422)
Gene: ATG7
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31 (OMIM:619422)
Gene: ATG7
Phenotype: Optic atrophy (HP:0000648)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31 (OMIM:619422)
Gene: ATG7
Phenotype: Posterior atrophy of corpus callosum (HP:0034007)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31 (OMIM:619422)
Gene: ATG7
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31 (OMIM:619422)
Gene: ATG7
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31 (OMIM:619422)
Gene: ATG7
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31 (OMIM:619422)
Gene: ATG7
Phenotype: Self-mutilation (HP:0000742)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31 (OMIM:619422)
Gene: ATG7
Phenotype: Autistic behavior (HP:0000729)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31 (OMIM:619422)
Gene: ATG7
Phenotype: Retrognathia (HP:0000278)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31 (OMIM:619422)
Gene: ATG7
Phenotype: Long face (HP:0000276)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31 (OMIM:619422)
Gene: ATG7
Phenotype: High palate (HP:0000218)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31 (OMIM:619422)
Gene: ATG7
Phenotype: Gingival overgrowth (HP:0000212)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31 (OMIM:619422)
Gene: ATG7
Phenotype: Growth delay (HP:0001510)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31 (OMIM:619422)
Gene: ATG7
Phenotype: Hypernasal speech (HP:0001611)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31 (OMIM:619422)
Gene: ATG7
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31 (OMIM:619422)
Gene: ATG7
Phenotype: Strabismus (HP:0000486)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31 (OMIM:619422)
Gene: ATG7
Phenotype: Retinopathy (HP:0000488)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31 (OMIM:619422)
Gene: ATG7
Phenotype: Pes cavus (HP:0001761)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31 (OMIM:619422)
Gene: ATG7
Phenotype: Ptosis (HP:0000508)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31 (OMIM:619422)
Gene: ATG7
Phenotype: External ophthalmoplegia (HP:0000544)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31 (OMIM:619422)
Gene: RNASEH2A
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: RNASEH2A
Phenotype: Leukodystrophy (HP:0002415)
Associated disease: AICARDI-GOUTIERES SYNDROME 4 (OMIM:610333)
Gene: RNASEH2A
Phenotype: Leukodystrophy (HP:0002415)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: RNASEH2A
Phenotype: Hypertonia (HP:0001276)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: RNASEH2A
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: AICARDI-GOUTIERES SYNDROME 4 (OMIM:610333)
Gene: RNASEH2A
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: RNASEH2A
Phenotype: Seizure (HP:0001250)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: RNASEH2A
Phenotype: Seizure (HP:0001250)
Associated disease: AICARDI-GOUTIERES SYNDROME 4 (OMIM:610333)
Gene: RNASEH2A
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: RNASEH2A
Phenotype: Spasticity (HP:0001257)
Associated disease: AICARDI-GOUTIERES SYNDROME 4 (OMIM:610333)
Gene: RNASEH2A
Phenotype: Spasticity (HP:0001257)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: RNASEH2A
Phenotype: Cerebral calcification (HP:0002514)
Associated disease: AICARDI-GOUTIERES SYNDROME 4 (OMIM:610333)
Gene: RNASEH2A
Phenotype: Cerebral calcification (HP:0002514)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: RNASEH2A
Phenotype: Spastic tetraplegia (HP:0002510)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: RNASEH2A
Phenotype: Death in childhood (HP:0003819)
Associated disease: AICARDI-GOUTIERES SYNDROME 4 (OMIM:610333)
Gene: RNASEH2A
Phenotype: Arthritis (HP:0001369)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)