TaoMedAI/RareMedData huggingface dataset:
Gene: CLIC2
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome (ORPHA:324410)
Gene: CLIC2
Phenotype: Bulbous nose (HP:0000414)
Associated disease: X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome (ORPHA:324410)
Gene: CLIC2
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome (ORPHA:324410)
Gene: CLIC2
Phenotype: Abnormal atrioventricular valve morphology (HP:0006705)
Associated disease: X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome (ORPHA:324410)
Gene: TPP1
Phenotype: Saccadic smooth pursuit (HP:0001152)
Associated disease: SCAR7; Autosomal recessive spinocerebellar ataxia type 7; Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia (ORPHA:284324)
Gene: TPP1
Phenotype: Saccadic smooth pursuit (HP:0001152)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7 (OMIM:609270)
Gene: TPP1
Phenotype: Impaired vibratory sensation (HP:0002495)
Associated disease: SCAR7; Autosomal recessive spinocerebellar ataxia type 7; Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia (ORPHA:284324)
Gene: TPP1
Phenotype: Impaired vibratory sensation (HP:0002495)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7 (OMIM:609270)
Gene: TPP1
Phenotype: Reduced tissue tripeptidyl peptidase 1 activity (HP:6000571)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 2 (OMIM:204500)
Gene: TPP1
Phenotype: Progressive gait ataxia (HP:0007240)
Associated disease: SCAR7; Autosomal recessive spinocerebellar ataxia type 7; Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia (ORPHA:284324)
Gene: TPP1
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7 (OMIM:609270)
Gene: TPP1
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: SCAR7; Autosomal recessive spinocerebellar ataxia type 7; Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia (ORPHA:284324)
Gene: TPP1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: SCAR7; Autosomal recessive spinocerebellar ataxia type 7; Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia (ORPHA:284324)
Gene: TPP1
Phenotype: Seizure (HP:0001250)
Associated disease: SCAR7; Autosomal recessive spinocerebellar ataxia type 7; Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia (ORPHA:284324)
Gene: TPP1
Phenotype: Seizure (HP:0001250)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 2 (OMIM:204500)
Gene: TPP1
Phenotype: Ataxia (HP:0001251)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7 (OMIM:609270)
Gene: TPP1
Phenotype: Ataxia (HP:0001251)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 2 (OMIM:204500)
Gene: TPP1
Phenotype: Dysarthria (HP:0001260)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7 (OMIM:609270)
Gene: TPP1
Phenotype: Dysarthria (HP:0001260)
Associated disease: SCAR7; Autosomal recessive spinocerebellar ataxia type 7; Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia (ORPHA:284324)
Gene: TPP1
Phenotype: Hypermetric saccades (HP:0007338)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7 (OMIM:609270)
Gene: TPP1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7 (OMIM:609270)
Gene: TPP1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: SCAR7; Autosomal recessive spinocerebellar ataxia type 7; Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia (ORPHA:284324)
Gene: TPP1
Phenotype: Urinary urgency (HP:0000012)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7 (OMIM:609270)
Gene: TPP1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7 (OMIM:609270)
Gene: TPP1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 2 (OMIM:204500)
Gene: TPP1
Phenotype: Myoclonus (HP:0001336)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 2 (OMIM:204500)
Gene: TPP1
Phenotype: Abnormal nervous system electrophysiology (HP:0001311)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 2 (OMIM:204500)
Gene: TPP1
Phenotype: Dysmetria (HP:0001310)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7 (OMIM:609270)
Gene: TPP1
Phenotype: Dysmetria (HP:0001310)
Associated disease: SCAR7; Autosomal recessive spinocerebellar ataxia type 7; Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia (ORPHA:284324)
Gene: TPP1
Phenotype: Dysphagia (HP:0002015)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7 (OMIM:609270)
Gene: TPP1
Phenotype: Gait ataxia (HP:0002066)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7 (OMIM:609270)
Gene: TPP1
Phenotype: Increased neuronal autofluorescent lipopigment (HP:0002074)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 2 (OMIM:204500)
Gene: TPP1
Phenotype: Progressive cerebellar ataxia (HP:0002073)
Associated disease: SCAR7; Autosomal recessive spinocerebellar ataxia type 7; Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia (ORPHA:284324)
Gene: TPP1
Phenotype: Limb ataxia (HP:0002070)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7 (OMIM:609270)
Gene: TPP1
Phenotype: Limb ataxia (HP:0002070)
Associated disease: SCAR7; Autosomal recessive spinocerebellar ataxia type 7; Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia (ORPHA:284324)
Gene: TPP1
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 2 (OMIM:204500)
Gene: TPP1
Phenotype: Babinski sign (HP:0003487)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7 (OMIM:609270)
Gene: TPP1
Phenotype: Babinski sign (HP:0003487)
Associated disease: SCAR7; Autosomal recessive spinocerebellar ataxia type 7; Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia (ORPHA:284324)
Gene: TPP1
Phenotype: Broad-based gait (HP:0002136)
Associated disease: SCAR7; Autosomal recessive spinocerebellar ataxia type 7; Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia (ORPHA:284324)
Gene: TPP1
Phenotype: Increased extraneuronal autofluorescent lipopigment (HP:0003463)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 2 (OMIM:204500)
Gene: TPP1
Phenotype: EMG: neuropathic changes (HP:0003445)
Associated disease: SCAR7; Autosomal recessive spinocerebellar ataxia type 7; Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia (ORPHA:284324)
Gene: TPP1
Phenotype: Scanning speech (HP:0002168)
Associated disease: SCAR7; Autosomal recessive spinocerebellar ataxia type 7; Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia (ORPHA:284324)
Gene: TPP1
Phenotype: Scanning speech (HP:0002168)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7 (OMIM:609270)
Gene: TPP1
Phenotype: Postural tremor (HP:0002174)
Associated disease: SCAR7; Autosomal recessive spinocerebellar ataxia type 7; Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia (ORPHA:284324)
Gene: TPP1
Phenotype: Postural tremor (HP:0002174)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7 (OMIM:609270)
Gene: TPP1
Phenotype: Developmental regression (HP:0002376)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 2 (OMIM:204500)
Gene: TPP1
Phenotype: Slowly progressive (HP:0003677)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7 (OMIM:609270)
Gene: TPP1
Phenotype: Unsteady gait (HP:0002317)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7 (OMIM:609270)
Gene: TPP1
Phenotype: Clumsiness (HP:0002312)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7 (OMIM:609270)
Gene: TPP1
Phenotype: Clumsiness (HP:0002312)
Associated disease: SCAR7; Autosomal recessive spinocerebellar ataxia type 7; Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia (ORPHA:284324)
Gene: TPP1
Phenotype: Nystagmus (HP:0000639)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7 (OMIM:609270)
Gene: TPP1
Phenotype: Diplopia (HP:0000651)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7 (OMIM:609270)
Gene: TPP1
Phenotype: Diplopia (HP:0000651)
Associated disease: SCAR7; Autosomal recessive spinocerebellar ataxia type 7; Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia (ORPHA:284324)
Gene: TPP1
Phenotype: Dysmetric saccades (HP:0000641)
Associated disease: SCAR7; Autosomal recessive spinocerebellar ataxia type 7; Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia (ORPHA:284324)
Gene: TPP1
Phenotype: Oculomotor apraxia (HP:0000657)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7 (OMIM:609270)
Gene: TPP1
Phenotype: Oculomotor apraxia (HP:0000657)
Associated disease: SCAR7; Autosomal recessive spinocerebellar ataxia type 7; Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia (ORPHA:284324)
Gene: TPP1
Phenotype: Horizontal nystagmus (HP:0000666)
Associated disease: SCAR7; Autosomal recessive spinocerebellar ataxia type 7; Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia (ORPHA:284324)
Gene: TPP1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 2 (OMIM:204500)
Gene: TPP1
Phenotype: Childhood onset (HP:0011463)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7 (OMIM:609270)
Gene: TPP1
Phenotype: Curvilinear intracellular accumulation of autofluorescent lipopigment storage material (HP:0003205)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 2 (OMIM:204500)
Gene: TPP1
Phenotype: Truncal titubation (HP:0030147)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7 (OMIM:609270)
Gene: TPP1
Phenotype: Early young adult onset (HP:0025708)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7 (OMIM:609270)
Gene: TPP1
Phenotype: Progressive visual loss (HP:0000529)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 2 (OMIM:204500)
Gene: TPP1
Phenotype: Undetectable electroretinogram (HP:0000550)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 2 (OMIM:204500)
Gene: TPP1
Phenotype: Retinal degeneration (HP:0000546)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 2 (OMIM:204500)
Gene: CLN3
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CLN3
Phenotype: Seizure (HP:0001250)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 3 (OMIM:204200)
Gene: CLN3
Phenotype: Intellectual disability (HP:0001249)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 3 (OMIM:204200)
Gene: CLN3
Phenotype: Dysarthria (HP:0001260)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 3 (OMIM:204200)
Gene: CLN3
Phenotype: Loss of ambulation (HP:0002505)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 3 (OMIM:204200)
Gene: CLN3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CLN3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 3 (OMIM:204200)
Gene: CLN3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CLN3
Phenotype: Myoclonus (HP:0001336)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 3 (OMIM:204200)
Gene: CLN3
Phenotype: Abnormal cerebellum morphology (HP:0001317)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 3 (OMIM:204200)
Gene: CLN3
Phenotype: Parkinsonism (HP:0001300)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 3 (OMIM:204200)
Gene: CLN3
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CLN3
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 3 (OMIM:204200)
Gene: CLN3
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CLN3
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 3 (OMIM:204200)
Gene: CLN3
Phenotype: Increased neuronal autofluorescent lipopigment (HP:0002074)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 3 (OMIM:204200)
Gene: CLN3
Phenotype: Abnormality of extrapyramidal motor function (HP:0002071)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 3 (OMIM:204200)
Gene: CLN3
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 3 (OMIM:204200)
Gene: CLN3
Phenotype: Increased extraneuronal autofluorescent lipopigment (HP:0003463)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 3 (OMIM:204200)
Gene: CLN3
Phenotype: Psychomotor deterioration (HP:0002361)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 3 (OMIM:204200)
Gene: CLN3
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 3 (OMIM:204200)
Gene: CLN3
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CLN3
Phenotype: Optic atrophy (HP:0000648)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 3 (OMIM:204200)
Gene: CLN3
Phenotype: Blindness (HP:0000618)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 3 (OMIM:204200)
Gene: CLN3
Phenotype: Vacuolated lymphocytes (HP:0001922)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 3 (OMIM:204200)
Gene: CLN3
Phenotype: Macular degeneration (HP:0000608)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 3 (OMIM:204200)
Gene: CLN3
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CLN3
Phenotype: Anxiety (HP:0000739)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 3 (OMIM:204200)
Gene: CLN3
Phenotype: Dementia (HP:0000726)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 3 (OMIM:204200)
Gene: CLN3
Phenotype: Psychosis (HP:0000709)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 3 (OMIM:204200)
Gene: CLN3
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CLN3
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CLN3
Phenotype: Fingerprint intracellular accumulation of autofluorescent lipopigment storage material (HP:0003208)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 3 (OMIM:204200)
Gene: CLN3
Phenotype: Curvilinear intracellular accumulation of autofluorescent lipopigment storage material (HP:0003205)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 3 (OMIM:204200)
Gene: CLN3
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CLN3
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CLN3
Phenotype: Concentric hypertrophic cardiomyopathy (HP:0005157)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 3 (OMIM:204200)
Gene: CLN3
Phenotype: Cataract (HP:0000518)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 3 (OMIM:204200)
Gene: CLN3
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 3 (OMIM:204200)
Gene: CLN3
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CLN3
Phenotype: Progressive visual loss (HP:0000529)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 3 (OMIM:204200)
Gene: CLN3
Phenotype: Glaucoma (HP:0000501)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 3 (OMIM:204200)
Gene: CLN3
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CLN3
Phenotype: Undetectable electroretinogram (HP:0000550)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 3 (OMIM:204200)
Gene: CLN3
Phenotype: Retinal degeneration (HP:0000546)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 3 (OMIM:204200)
Gene: CLN3
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CLN3
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CLN5
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 5 (OMIM:256731)
Gene: CLN5
Phenotype: Seizure (HP:0001250)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 5 (OMIM:256731)
Gene: CLN5
Phenotype: Ataxia (HP:0001251)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 5 (OMIM:256731)
Gene: CLN5
Phenotype: Intellectual disability (HP:0001249)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 5 (OMIM:256731)
Gene: CLN5
Phenotype: Dysarthria (HP:0001260)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 5 (OMIM:256731)
Gene: CLN5
Phenotype: Loss of ambulation (HP:0002505)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 5 (OMIM:256731)
Gene: CLN5
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 5 (OMIM:256731)
Gene: CLN5
Phenotype: Myoclonus (HP:0001336)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 5 (OMIM:256731)
Gene: CLN5
Phenotype: Abnormal nervous system electrophysiology (HP:0001311)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 5 (OMIM:256731)
Gene: CLN5
Phenotype: Dysmetria (HP:0001310)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 5 (OMIM:256731)
Gene: CLN5
Phenotype: Increased neuronal autofluorescent lipopigment (HP:0002074)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 5 (OMIM:256731)
Gene: CLN5
Phenotype: Dysdiadochokinesis (HP:0002075)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 5 (OMIM:256731)
Gene: CLN5
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 5 (OMIM:256731)
Gene: CLN5
Phenotype: Limb tremor (HP:0200085)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 5 (OMIM:256731)
Gene: CLN5
Phenotype: Developmental regression (HP:0002376)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 5 (OMIM:256731)
Gene: CLN5
Phenotype: Motor deterioration (HP:0002333)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 5 (OMIM:256731)
Gene: CLN5
Phenotype: Clumsiness (HP:0002312)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 5 (OMIM:256731)
Gene: CLN5
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 5 (OMIM:256731)
Gene: CLN5
Phenotype: Nystagmus (HP:0000639)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 5 (OMIM:256731)
Gene: CLN5
Phenotype: Vacuolated lymphocytes (HP:0001922)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 5 (OMIM:256731)
Gene: CLN5
Phenotype: Rectilinear intracellular accumulation of autofluorescent lipopigment storage material (HP:0003226)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 5 (OMIM:256731)
Gene: CLN5
Phenotype: Fingerprint intracellular accumulation of autofluorescent lipopigment storage material (HP:0003208)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 5 (OMIM:256731)
Gene: CLN5
Phenotype: Curvilinear intracellular accumulation of autofluorescent lipopigment storage material (HP:0003205)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 5 (OMIM:256731)
Gene: CLN5
Phenotype: Progressive visual loss (HP:0000529)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 5 (OMIM:256731)
Gene: CLN5
Phenotype: Retinal degeneration (HP:0000546)
Associated disease: CEROID LIPOFUSCINOSIS, NEURONAL, 5 (OMIM:256731)
Gene: CLTC
Phenotype: Oromotor apraxia (HP:0007301)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 56 (OMIM:617854)
Gene: CLTC
Phenotype: Poor head control (HP:0002421)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: CLTC
Phenotype: Encephalopathy (HP:0001298)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: CLTC
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: CLTC
Phenotype: Abnormal corpus callosum morphology (HP:0001273)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: CLTC
Phenotype: Mental deterioration (HP:0001268)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: CLTC
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: CLTC
Phenotype: Seizure (HP:0001250)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 56 (OMIM:617854)
Gene: CLTC
Phenotype: Seizure (HP:0001250)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: CLTC
Phenotype: Hypotonia (HP:0001252)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 56 (OMIM:617854)
Gene: CLTC
Phenotype: Ataxia (HP:0001251)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 56 (OMIM:617854)
Gene: CLTC
Phenotype: Ataxia (HP:0001251)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: CLTC
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 56 (OMIM:617854)
Gene: CLTC
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: CLTC
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: CLTC
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 56 (OMIM:617854)
Gene: CLTC
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: CLTC
Phenotype: Spasticity (HP:0001257)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: CLTC
Phenotype: Spasticity (HP:0001257)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 56 (OMIM:617854)
Gene: CLTC
Phenotype: Inability to walk (HP:0002540)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 56 (OMIM:617854)
Gene: CLTC
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: CLTC
Phenotype: Limb hypertonia (HP:0002509)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: CLTC
Phenotype: Dystonia (HP:0001332)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 56 (OMIM:617854)
Gene: CLTC
Phenotype: Thin corpus callosum (HP:0033725)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 56 (OMIM:617854)
Gene: CLTC
Phenotype: Absent speech (HP:0001344)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 56 (OMIM:617854)