TaoMedAI/RareMedData huggingface dataset:
Gene: LGI1
Phenotype: Bilateral tonic-clonic seizure with focal onset (HP:0007334)
Associated disease: Autosomal dominant lateral temporal lobe epilepsy; ADLTE; ADEAF; Partial epilepsy with auditory features; Autosomal dominant epilepsy with auditory features; ADPEAF; Partial epilepsy with auditory aura (ORPHA:101046)
Gene: LGI1
Phenotype: Deja vu aura (HP:0012005)
Associated disease: EPILEPSY, FAMILIAL TEMPORAL LOBE, 1 (OMIM:600512)
Gene: LGI1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: EPILEPSY, FAMILIAL TEMPORAL LOBE, 1 (OMIM:600512)
Gene: LGI1
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: EPILEPSY, FAMILIAL TEMPORAL LOBE, 1 (OMIM:600512)
Gene: LGI1
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: Autosomal dominant lateral temporal lobe epilepsy; ADLTE; ADEAF; Partial epilepsy with auditory features; Autosomal dominant epilepsy with auditory features; ADPEAF; Partial epilepsy with auditory aura (ORPHA:101046)
Gene: LGI1
Phenotype: Migraine (HP:0002076)
Associated disease: Autosomal dominant lateral temporal lobe epilepsy; ADLTE; ADEAF; Partial epilepsy with auditory features; Autosomal dominant epilepsy with auditory features; ADPEAF; Partial epilepsy with auditory aura (ORPHA:101046)
Gene: LGI1
Phenotype: Generalized-onset seizure (HP:0002197)
Associated disease: Autosomal dominant lateral temporal lobe epilepsy; ADLTE; ADEAF; Partial epilepsy with auditory features; Autosomal dominant epilepsy with auditory features; ADPEAF; Partial epilepsy with auditory aura (ORPHA:101046)
Gene: LGI1
Phenotype: Middle age onset (HP:0003596)
Associated disease: EPILEPSY, FAMILIAL TEMPORAL LOBE, 1 (OMIM:600512)
Gene: LGI1
Phenotype: Focal clonic seizure (HP:0002266)
Associated disease: EPILEPSY, FAMILIAL TEMPORAL LOBE, 1 (OMIM:600512)
Gene: LGI1
Phenotype: Impulsivity (HP:0100710)
Associated disease: Autosomal dominant lateral temporal lobe epilepsy; ADLTE; ADEAF; Partial epilepsy with auditory features; Autosomal dominant epilepsy with auditory features; ADPEAF; Partial epilepsy with auditory aura (ORPHA:101046)
Gene: LGI1
Phenotype: Focal impaired awareness seizure (HP:0002384)
Associated disease: EPILEPSY, FAMILIAL TEMPORAL LOBE, 1 (OMIM:600512)
Gene: LGI1
Phenotype: Aphasia (HP:0002381)
Associated disease: Autosomal dominant lateral temporal lobe epilepsy; ADLTE; ADEAF; Partial epilepsy with auditory features; Autosomal dominant epilepsy with auditory features; ADPEAF; Partial epilepsy with auditory aura (ORPHA:101046)
Gene: LGI1
Phenotype: Visual hallucination (HP:0002367)
Associated disease: Autosomal dominant lateral temporal lobe epilepsy; ADLTE; ADEAF; Partial epilepsy with auditory features; Autosomal dominant epilepsy with auditory features; ADPEAF; Partial epilepsy with auditory aura (ORPHA:101046)
Gene: LGI1
Phenotype: Focal aware seizure (HP:0002349)
Associated disease: EPILEPSY, FAMILIAL TEMPORAL LOBE, 1 (OMIM:600512)
Gene: LGI1
Phenotype: Focal aware seizure (HP:0002349)
Associated disease: Autosomal dominant lateral temporal lobe epilepsy; ADLTE; ADEAF; Partial epilepsy with auditory features; Autosomal dominant epilepsy with auditory features; ADPEAF; Partial epilepsy with auditory aura (ORPHA:101046)
Gene: LGI1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: EPILEPSY, FAMILIAL TEMPORAL LOBE, 1 (OMIM:600512)
Gene: LGI1
Phenotype: Nocturnal seizures (HP:0031951)
Associated disease: Autosomal dominant lateral temporal lobe epilepsy; ADLTE; ADEAF; Partial epilepsy with auditory features; Autosomal dominant epilepsy with auditory features; ADPEAF; Partial epilepsy with auditory aura (ORPHA:101046)
Gene: LGI1
Phenotype: Depression (HP:0000716)
Associated disease: Autosomal dominant lateral temporal lobe epilepsy; ADLTE; ADEAF; Partial epilepsy with auditory features; Autosomal dominant epilepsy with auditory features; ADPEAF; Partial epilepsy with auditory aura (ORPHA:101046)
Gene: LGI1
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Autosomal dominant lateral temporal lobe epilepsy; ADLTE; ADEAF; Partial epilepsy with auditory features; Autosomal dominant epilepsy with auditory features; ADPEAF; Partial epilepsy with auditory aura (ORPHA:101046)
Gene: LGI1
Phenotype: Young adult onset (HP:0011462)
Associated disease: EPILEPSY, FAMILIAL TEMPORAL LOBE, 1 (OMIM:600512)
Gene: LGI1
Phenotype: Focal sensory seizure with cephalic sensation (HP:0032810)
Associated disease: EPILEPSY, FAMILIAL TEMPORAL LOBE, 1 (OMIM:600512)
Gene: LGI1
Phenotype: Focal aware sensory seizure with auditory features (HP:0032864)
Associated disease: EPILEPSY, FAMILIAL TEMPORAL LOBE, 1 (OMIM:600512)
Gene: LGI1
Phenotype: Focal sensory seizure with vestibular features (HP:0032759)
Associated disease: EPILEPSY, FAMILIAL TEMPORAL LOBE, 1 (OMIM:600512)
Gene: LGI1
Phenotype: Focal autonomic seizure with palpitations/tachycardia/bradycardia/asystole (HP:0032773)
Associated disease: EPILEPSY, FAMILIAL TEMPORAL LOBE, 1 (OMIM:600512)
Gene: LGI1
Phenotype: Abnormal autonomic nervous system physiology (HP:0012332)
Associated disease: Autosomal dominant lateral temporal lobe epilepsy; ADLTE; ADEAF; Partial epilepsy with auditory features; Autosomal dominant epilepsy with auditory features; ADPEAF; Partial epilepsy with auditory aura (ORPHA:101046)
Gene: LGI1
Phenotype: EEG with focal epileptiform discharges (HP:0011185)
Associated disease: Autosomal dominant lateral temporal lobe epilepsy; ADLTE; ADEAF; Partial epilepsy with auditory features; Autosomal dominant epilepsy with auditory features; ADPEAF; Partial epilepsy with auditory aura (ORPHA:101046)
Gene: LGI1
Phenotype: Interictal epileptiform activity (HP:0011182)
Associated disease: Autosomal dominant lateral temporal lobe epilepsy; ADLTE; ADEAF; Partial epilepsy with auditory features; Autosomal dominant epilepsy with auditory features; ADPEAF; Partial epilepsy with auditory aura (ORPHA:101046)
Gene: LGI1
Phenotype: Focal autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal phenomena (HP:0011159)
Associated disease: EPILEPSY, FAMILIAL TEMPORAL LOBE, 1 (OMIM:600512)
Gene: LGI1
Phenotype: Focal sensory seizure with auditory features (HP:0011158)
Associated disease: EPILEPSY, FAMILIAL TEMPORAL LOBE, 1 (OMIM:600512)
Gene: LGI1
Phenotype: Focal sensory seizure with olfactory features (HP:0011161)
Associated disease: EPILEPSY, FAMILIAL TEMPORAL LOBE, 1 (OMIM:600512)
Gene: LGI1
Phenotype: Focal sensory seizure with visual features (HP:0011165)
Associated disease: EPILEPSY, FAMILIAL TEMPORAL LOBE, 1 (OMIM:600512)
Gene: LGI1
Phenotype: Focal autonomic seizure (HP:0011154)
Associated disease: Autosomal dominant lateral temporal lobe epilepsy; ADLTE; ADEAF; Partial epilepsy with auditory features; Autosomal dominant epilepsy with auditory features; ADPEAF; Partial epilepsy with auditory aura (ORPHA:101046)
Gene: LGI1
Phenotype: Focal automatism seizure (HP:0032898)
Associated disease: EPILEPSY, FAMILIAL TEMPORAL LOBE, 1 (OMIM:600512)
Gene: XPR1
Phenotype: Cerebellar dentate nucleus calcification (HP:0002461)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1 (OMIM:213600)
Gene: XPR1
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: XPR1
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1 (OMIM:213600)
Gene: XPR1
Phenotype: Limb dysmetria (HP:0002406)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1 (OMIM:213600)
Gene: XPR1
Phenotype: Mental deterioration (HP:0001268)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1 (OMIM:213600)
Gene: XPR1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1 (OMIM:213600)
Gene: XPR1
Phenotype: Seizure (HP:0001250)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: XPR1
Phenotype: Seizure (HP:0001250)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1 (OMIM:213600)
Gene: XPR1
Phenotype: Seizure (HP:0001250)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 6 (OMIM:616413)
Gene: XPR1
Phenotype: Choreoathetosis (HP:0001266)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: XPR1
Phenotype: Choreoathetosis (HP:0001266)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 6 (OMIM:616413)
Gene: XPR1
Phenotype: Dysarthria (HP:0001260)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1 (OMIM:213600)
Gene: XPR1
Phenotype: Dysarthria (HP:0001260)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 6 (OMIM:616413)
Gene: XPR1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1 (OMIM:213600)
Gene: XPR1
Phenotype: Cerebellar calcifications (HP:0007352)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: XPR1
Phenotype: Calcification of the small brain vessels (HP:0002504)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1 (OMIM:213600)
Gene: XPR1
Phenotype: Urinary incontinence (HP:0000020)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1 (OMIM:213600)
Gene: XPR1
Phenotype: Slurred speech (HP:0001350)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: XPR1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1 (OMIM:213600)
Gene: XPR1
Phenotype: Dystonia (HP:0001332)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: XPR1
Phenotype: Dystonia (HP:0001332)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1 (OMIM:213600)
Gene: XPR1
Phenotype: Urinary urgency (HP:0000012)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: XPR1
Phenotype: Tremor (HP:0001337)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: XPR1
Phenotype: Tremor (HP:0001337)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1 (OMIM:213600)
Gene: XPR1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 6 (OMIM:616413)
Gene: XPR1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1 (OMIM:213600)
Gene: XPR1
Phenotype: Parkinsonism (HP:0001300)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1 (OMIM:213600)
Gene: XPR1
Phenotype: Parkinsonism (HP:0001300)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 6 (OMIM:616413)
Gene: XPR1
Phenotype: Dysphagia (HP:0002015)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: XPR1
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 6 (OMIM:616413)
Gene: XPR1
Phenotype: Bradykinesia (HP:0002067)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: XPR1
Phenotype: Bradykinesia (HP:0002067)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1 (OMIM:213600)
Gene: XPR1
Phenotype: Muscle spasm (HP:0003394)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: XPR1
Phenotype: Rigidity (HP:0002063)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: XPR1
Phenotype: Rigidity (HP:0002063)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1 (OMIM:213600)
Gene: XPR1
Phenotype: Dysdiadochokinesis (HP:0002075)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1 (OMIM:213600)
Gene: XPR1
Phenotype: Chorea (HP:0002072)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1 (OMIM:213600)
Gene: XPR1
Phenotype: Easy fatigability (HP:0003388)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: XPR1
Phenotype: Basal ganglia calcification (HP:0002135)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 6 (OMIM:616413)
Gene: XPR1
Phenotype: Basal ganglia calcification (HP:0002135)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: XPR1
Phenotype: Basal ganglia calcification (HP:0002135)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1 (OMIM:213600)
Gene: XPR1
Phenotype: Postural instability (HP:0002172)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1 (OMIM:213600)
Gene: XPR1
Phenotype: Adult onset (HP:0003581)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1 (OMIM:213600)
Gene: XPR1
Phenotype: Adult onset (HP:0003581)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 6 (OMIM:616413)
Gene: XPR1
Phenotype: Progressive neurologic deterioration (HP:0002344)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: XPR1
Phenotype: Progressive (HP:0003676)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1 (OMIM:213600)
Gene: XPR1
Phenotype: Progressive (HP:0003676)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 6 (OMIM:616413)
Gene: XPR1
Phenotype: Memory impairment (HP:0002354)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: XPR1
Phenotype: Memory impairment (HP:0002354)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1 (OMIM:213600)
Gene: XPR1
Phenotype: Memory impairment (HP:0002354)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 6 (OMIM:616413)
Gene: XPR1
Phenotype: Vertigo (HP:0002321)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: XPR1
Phenotype: Unsteady gait (HP:0002317)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: XPR1
Phenotype: Headache (HP:0002315)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: XPR1
Phenotype: Dyskinesia (HP:0100660)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: XPR1
Phenotype: Bilateral basal ganglia lesions (HP:0007146)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: XPR1
Phenotype: Abnormal circulating metabolite concentration (HP:0032180)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: XPR1
Phenotype: Clumsiness (HP:0002312)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: XPR1
Phenotype: Athetosis (HP:0002305)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1 (OMIM:213600)
Gene: XPR1
Phenotype: Palilalia (HP:0031814)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 6 (OMIM:616413)
Gene: XPR1
Phenotype: Involuntary movements (HP:0004305)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 6 (OMIM:616413)
Gene: XPR1
Phenotype: Involuntary movements (HP:0004305)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: XPR1
Phenotype: Diminished ability to concentrate (HP:0031987)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: XPR1
Phenotype: Impotence (HP:0000802)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: XPR1
Phenotype: Abnormal circulating calcium concentration (HP:0004363)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1 (OMIM:213600)
Gene: XPR1
Phenotype: Micrographia (HP:0031908)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1 (OMIM:213600)
Gene: XPR1
Phenotype: Personality changes (HP:0000751)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: XPR1
Phenotype: Anxiety (HP:0000739)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: XPR1
Phenotype: Depression (HP:0000716)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1 (OMIM:213600)
Gene: XPR1
Phenotype: Depression (HP:0000716)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 6 (OMIM:616413)
Gene: XPR1
Phenotype: Dementia (HP:0000726)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: XPR1
Phenotype: Dementia (HP:0000726)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 6 (OMIM:616413)
Gene: XPR1
Phenotype: Psychosis (HP:0000709)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: XPR1
Phenotype: Psychosis (HP:0000709)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1 (OMIM:213600)
Gene: XPR1
Phenotype: Childhood onset (HP:0011463)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1 (OMIM:213600)
Gene: XPR1
Phenotype: Unusual CNS infection (HP:0011450)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: XPR1
Phenotype: Hypertension (HP:0000822)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: XPR1
Phenotype: Mask-like facies (HP:0000298)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: XPR1
Phenotype: Mask-like facies (HP:0000298)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1 (OMIM:213600)
Gene: LARGE1
Phenotype: Poor speech (HP:0002465)
Associated disease: CMD with intellectual disability; CMD-MR; Congenital muscular dystrophy with intellectual disability (ORPHA:370968)
Gene: LARGE1
Phenotype: Cerebellar malformation (HP:0002438)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: LARGE1
Phenotype: Meningocele (HP:0002435)
Associated disease: Muscle-eye-brain syndrome; Santavuori congenital muscular dystrophy; Muscle-eye-brain disease; MEB syndrome (ORPHA:588)
Gene: LARGE1
Phenotype: Retinal atrophy (HP:0001105)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: LARGE1
Phenotype: Type II lissencephaly (HP:0007260)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 6 (OMIM:613154)
Gene: LARGE1
Phenotype: Type II lissencephaly (HP:0007260)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: LARGE1
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: LARGE1
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: CMD with intellectual disability; CMD-MR; Congenital muscular dystrophy with intellectual disability (ORPHA:370968)
Gene: LARGE1
Phenotype: Microtia (HP:0008551)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: LARGE1
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 6 (OMIM:608840)
Gene: LARGE1
Phenotype: Skeletal muscle hypertrophy (HP:0003712)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 6 (OMIM:608840)
Gene: LARGE1
Phenotype: Skeletal muscle hypertrophy (HP:0003712)
Associated disease: CMD with intellectual disability; CMD-MR; Congenital muscular dystrophy with intellectual disability (ORPHA:370968)
Gene: LARGE1
Phenotype: Posterior fossa cyst (HP:0007291)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: LARGE1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 6 (OMIM:608840)
Gene: LARGE1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 6 (OMIM:613154)
Gene: LARGE1
Phenotype: Hypertonia (HP:0001276)
Associated disease: Muscle-eye-brain syndrome; Santavuori congenital muscular dystrophy; Muscle-eye-brain disease; MEB syndrome (ORPHA:588)
Gene: LARGE1
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Gene: LARGE1
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)