TaoMedAI/RareMedData huggingface dataset:
Gene: SYNE2
Phenotype: Back pain (HP:0003418)
Associated disease: EDMD2; Autosomal dominant Emery-Dreifuss muscular dystrophy (ORPHA:98853)
Gene: SYNE2
Phenotype: Muscular dystrophy (HP:0003560)
Associated disease: EMERY-DREIFUSS MUSCULAR DYSTROPHY 5, AUTOSOMAL DOMINANT (OMIM:612999)
Gene: SYNE2
Phenotype: Increased variability in muscle fiber diameter (HP:0003557)
Associated disease: EMERY-DREIFUSS MUSCULAR DYSTROPHY 5, AUTOSOMAL DOMINANT (OMIM:612999)
Gene: SYNE2
Phenotype: Scapular winging (HP:0003691)
Associated disease: EMERY-DREIFUSS MUSCULAR DYSTROPHY 5, AUTOSOMAL DOMINANT (OMIM:612999)
Gene: SYNE2
Phenotype: Scapular winging (HP:0003691)
Associated disease: EDMD2; Autosomal dominant Emery-Dreifuss muscular dystrophy (ORPHA:98853)
Gene: SYNE2
Phenotype: Centrally nucleated skeletal muscle fibers (HP:0003687)
Associated disease: EMERY-DREIFUSS MUSCULAR DYSTROPHY 5, AUTOSOMAL DOMINANT (OMIM:612999)
Gene: SYNE2
Phenotype: Proximal amyotrophy (HP:0007126)
Associated disease: EMERY-DREIFUSS MUSCULAR DYSTROPHY 5, AUTOSOMAL DOMINANT (OMIM:612999)
Gene: SYNE2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: EMERY-DREIFUSS MUSCULAR DYSTROPHY 5, AUTOSOMAL DOMINANT (OMIM:612999)
Gene: SYNE2
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: EDMD2; Autosomal dominant Emery-Dreifuss muscular dystrophy (ORPHA:98853)
Gene: SYNE2
Phenotype: Childhood onset (HP:0011463)
Associated disease: EMERY-DREIFUSS MUSCULAR DYSTROPHY 5, AUTOSOMAL DOMINANT (OMIM:612999)
Gene: SYNE2
Phenotype: Lipodystrophy (HP:0009125)
Associated disease: EDMD2; Autosomal dominant Emery-Dreifuss muscular dystrophy (ORPHA:98853)
Gene: SYNE2
Phenotype: Myopathy (HP:0003198)
Associated disease: EDMD2; Autosomal dominant Emery-Dreifuss muscular dystrophy (ORPHA:98853)
Gene: SYNE2
Phenotype: Myopathy (HP:0003198)
Associated disease: EMERY-DREIFUSS MUSCULAR DYSTROPHY 5, AUTOSOMAL DOMINANT (OMIM:612999)
Gene: SYNE2
Phenotype: Sprengel anomaly (HP:0000912)
Associated disease: EDMD2; Autosomal dominant Emery-Dreifuss muscular dystrophy (ORPHA:98853)
Gene: SYNE2
Phenotype: Increased LDL cholesterol concentration (HP:0003141)
Associated disease: EDMD2; Autosomal dominant Emery-Dreifuss muscular dystrophy (ORPHA:98853)
Gene: SYNE2
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: EMERY-DREIFUSS MUSCULAR DYSTROPHY 5, AUTOSOMAL DOMINANT (OMIM:612999)
Gene: SYNE2
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: EDMD2; Autosomal dominant Emery-Dreifuss muscular dystrophy (ORPHA:98853)
Gene: SYNE2
Phenotype: Ichthyosis (HP:0008064)
Associated disease: EDMD2; Autosomal dominant Emery-Dreifuss muscular dystrophy (ORPHA:98853)
Gene: SYNE2
Phenotype: Arrhythmia (HP:0011675)
Associated disease: EMERY-DREIFUSS MUSCULAR DYSTROPHY 5, AUTOSOMAL DOMINANT (OMIM:612999)
Gene: SYNE2
Phenotype: Supraventricular arrhythmia (HP:0005115)
Associated disease: EDMD2; Autosomal dominant Emery-Dreifuss muscular dystrophy (ORPHA:98853)
Gene: SYNE2
Phenotype: Kyphosis (HP:0002808)
Associated disease: EDMD2; Autosomal dominant Emery-Dreifuss muscular dystrophy (ORPHA:98853)
Gene: SYNE2
Phenotype: Tip-toe gait (HP:0030051)
Associated disease: EDMD2; Autosomal dominant Emery-Dreifuss muscular dystrophy (ORPHA:98853)
Gene: SYNE2
Phenotype: Obesity (HP:0001513)
Associated disease: EDMD2; Autosomal dominant Emery-Dreifuss muscular dystrophy (ORPHA:98853)
Gene: SYNE2
Phenotype: Vocal cord paralysis (HP:0001605)
Associated disease: EDMD2; Autosomal dominant Emery-Dreifuss muscular dystrophy (ORPHA:98853)
Gene: SYNE2
Phenotype: Ventricular escape rhythm (HP:0005155)
Associated disease: EDMD2; Autosomal dominant Emery-Dreifuss muscular dystrophy (ORPHA:98853)
Gene: SYNE2
Phenotype: Absent muscle fiber emerin (HP:0030117)
Associated disease: EDMD2; Autosomal dominant Emery-Dreifuss muscular dystrophy (ORPHA:98853)
Gene: SYNE2
Phenotype: Atrioventricular block (HP:0001678)
Associated disease: EDMD2; Autosomal dominant Emery-Dreifuss muscular dystrophy (ORPHA:98853)
Gene: SYNE2
Phenotype: Sudden cardiac death (HP:0001645)
Associated disease: EDMD2; Autosomal dominant Emery-Dreifuss muscular dystrophy (ORPHA:98853)
Gene: SYNE2
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: EDMD2; Autosomal dominant Emery-Dreifuss muscular dystrophy (ORPHA:98853)
Gene: SYNE2
Phenotype: Elbow flexion contracture (HP:0002987)
Associated disease: EDMD2; Autosomal dominant Emery-Dreifuss muscular dystrophy (ORPHA:98853)
Gene: SYNE2
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: EDMD2; Autosomal dominant Emery-Dreifuss muscular dystrophy (ORPHA:98853)
Gene: SYNE2
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: EMERY-DREIFUSS MUSCULAR DYSTROPHY 5, AUTOSOMAL DOMINANT (OMIM:612999)
Gene: SYNE2
Phenotype: Achilles tendon contracture (HP:0001771)
Associated disease: EDMD2; Autosomal dominant Emery-Dreifuss muscular dystrophy (ORPHA:98853)
Gene: SYNE2
Phenotype: Limb-girdle muscular dystrophy (HP:0006785)
Associated disease: EDMD2; Autosomal dominant Emery-Dreifuss muscular dystrophy (ORPHA:98853)
Gene: SYNE2
Phenotype: Ptosis (HP:0000508)
Associated disease: EDMD2; Autosomal dominant Emery-Dreifuss muscular dystrophy (ORPHA:98853)
Gene: ARHGEF9
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 8 (OMIM:300607)
Gene: ARHGEF9
Phenotype: Hypertonia (HP:0001276)
Associated disease: Hyperekplexia-epilepsy syndrome (ORPHA:163985)
Gene: ARHGEF9
Phenotype: Hypertonia (HP:0001276)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 8 (OMIM:300607)
Gene: ARHGEF9
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 8 (OMIM:300607)
Gene: ARHGEF9
Phenotype: Hypoplasia of the frontal lobes (HP:0007333)
Associated disease: Hyperekplexia-epilepsy syndrome (ORPHA:163985)
Gene: ARHGEF9
Phenotype: Hypoplasia of the frontal lobes (HP:0007333)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 8 (OMIM:300607)
Gene: ARHGEF9
Phenotype: Death in childhood (HP:0003819)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 8 (OMIM:300607)
Gene: ARHGEF9
Phenotype: EEG with temporal focal spikes (HP:0012018)
Associated disease: Hyperekplexia-epilepsy syndrome (ORPHA:163985)
Gene: ARHGEF9
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 8 (OMIM:300607)
Gene: ARHGEF9
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 8 (OMIM:300607)
Gene: ARHGEF9
Phenotype: Exaggerated startle response (HP:0002267)
Associated disease: Hyperekplexia-epilepsy syndrome (ORPHA:163985)
Gene: ARHGEF9
Phenotype: Exaggerated startle response (HP:0002267)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 8 (OMIM:300607)
Gene: ARHGEF9
Phenotype: Infantile onset (HP:0003593)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 8 (OMIM:300607)
Gene: ARHGEF9
Phenotype: Congenital onset (HP:0003577)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 8 (OMIM:300607)
Gene: ARHGEF9
Phenotype: Epileptic encephalopathy (HP:0200134)
Associated disease: Hyperekplexia-epilepsy syndrome (ORPHA:163985)
Gene: ARHGEF9
Phenotype: Epileptic encephalopathy (HP:0200134)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 8 (OMIM:300607)
Gene: ARHGEF9
Phenotype: Focal impaired awareness seizure (HP:0002384)
Associated disease: Hyperekplexia-epilepsy syndrome (ORPHA:163985)
Gene: ARHGEF9
Phenotype: Focal impaired awareness seizure (HP:0002384)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 8 (OMIM:300607)
Gene: ARHGEF9
Phenotype: Developmental regression (HP:0002376)
Associated disease: Hyperekplexia-epilepsy syndrome (ORPHA:163985)
Gene: ARHGEF9
Phenotype: Developmental regression (HP:0002376)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 8 (OMIM:300607)
Gene: ARHGEF9
Phenotype: Generalized tonic seizure (HP:0010818)
Associated disease: Hyperekplexia-epilepsy syndrome (ORPHA:163985)
Gene: ARHGEF9
Phenotype: Frontal polymicrogyria (HP:0006821)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 8 (OMIM:300607)
Gene: ARHGEF9
Phenotype: Childhood onset (HP:0011463)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 8 (OMIM:300607)
Gene: ARHGEF9
Phenotype: Trigonocephaly (HP:0000243)
Associated disease: Hyperekplexia-epilepsy syndrome (ORPHA:163985)
Gene: ARHGEF9
Phenotype: Trigonocephaly (HP:0000243)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 8 (OMIM:300607)
Gene: ARHGEF9
Phenotype: Overgrowth (HP:0001548)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 8 (OMIM:300607)
Gene: ARHGEF9
Phenotype: Tonic seizure (HP:0032792)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 8 (OMIM:300607)
Gene: VPS13A
Phenotype: Hyperkinetic movements (HP:0002487)
Associated disease: Levine-Critchley syndrome; Choreoacanthocytosis; Chorea-acanthocytosis; ChAc (ORPHA:2388)
Gene: VPS13A
Phenotype: Impaired vibratory sensation (HP:0002495)
Associated disease: Levine-Critchley syndrome; Choreoacanthocytosis; Chorea-acanthocytosis; ChAc (ORPHA:2388)
Gene: VPS13A
Phenotype: Abnormal hippocampus morphology (HP:0025100)
Associated disease: Levine-Critchley syndrome; Choreoacanthocytosis; Chorea-acanthocytosis; ChAc (ORPHA:2388)
Gene: VPS13A
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: Levine-Critchley syndrome; Choreoacanthocytosis; Chorea-acanthocytosis; ChAc (ORPHA:2388)
Gene: VPS13A
Phenotype: Limb dystonia (HP:0002451)
Associated disease: Levine-Critchley syndrome; Choreoacanthocytosis; Chorea-acanthocytosis; ChAc (ORPHA:2388)
Gene: VPS13A
Phenotype: Progressive choreoathetosis (HP:0007326)
Associated disease: CHOREOACANTHOCYTOSIS (OMIM:200150)
Gene: VPS13A
Phenotype: Bruxism (HP:0003763)
Associated disease: CHOREOACANTHOCYTOSIS (OMIM:200150)
Gene: VPS13A
Phenotype: Bruxism (HP:0003763)
Associated disease: Levine-Critchley syndrome; Choreoacanthocytosis; Chorea-acanthocytosis; ChAc (ORPHA:2388)
Gene: VPS13A
Phenotype: Hypertonia (HP:0001276)
Associated disease: Levine-Critchley syndrome; Choreoacanthocytosis; Chorea-acanthocytosis; ChAc (ORPHA:2388)
Gene: VPS13A
Phenotype: Mental deterioration (HP:0001268)
Associated disease: Levine-Critchley syndrome; Choreoacanthocytosis; Chorea-acanthocytosis; ChAc (ORPHA:2388)
Gene: VPS13A
Phenotype: Head titubation (HP:0002599)
Associated disease: Levine-Critchley syndrome; Choreoacanthocytosis; Chorea-acanthocytosis; ChAc (ORPHA:2388)
Gene: VPS13A
Phenotype: Areflexia (HP:0001284)
Associated disease: CHOREOACANTHOCYTOSIS (OMIM:200150)
Gene: VPS13A
Phenotype: Seizure (HP:0001250)
Associated disease: Levine-Critchley syndrome; Choreoacanthocytosis; Chorea-acanthocytosis; ChAc (ORPHA:2388)
Gene: VPS13A
Phenotype: Seizure (HP:0001250)
Associated disease: CHOREOACANTHOCYTOSIS (OMIM:200150)
Gene: VPS13A
Phenotype: Hypotonia (HP:0001252)
Associated disease: CHOREOACANTHOCYTOSIS (OMIM:200150)
Gene: VPS13A
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: CHOREOACANTHOCYTOSIS (OMIM:200150)
Gene: VPS13A
Phenotype: Dysarthria (HP:0001260)
Associated disease: CHOREOACANTHOCYTOSIS (OMIM:200150)
Gene: VPS13A
Phenotype: Dysarthria (HP:0001260)
Associated disease: Levine-Critchley syndrome; Choreoacanthocytosis; Chorea-acanthocytosis; ChAc (ORPHA:2388)
Gene: VPS13A
Phenotype: Self-mutilation of tongue and lips due to involuntary movements (HP:0008767)
Associated disease: Levine-Critchley syndrome; Choreoacanthocytosis; Chorea-acanthocytosis; ChAc (ORPHA:2388)
Gene: VPS13A
Phenotype: Self-mutilation of tongue and lips due to involuntary movements (HP:0008767)
Associated disease: CHOREOACANTHOCYTOSIS (OMIM:200150)
Gene: VPS13A
Phenotype: Falls (HP:0002527)
Associated disease: Levine-Critchley syndrome; Choreoacanthocytosis; Chorea-acanthocytosis; ChAc (ORPHA:2388)
Gene: VPS13A
Phenotype: Loss of ambulation (HP:0002505)
Associated disease: Levine-Critchley syndrome; Choreoacanthocytosis; Chorea-acanthocytosis; ChAc (ORPHA:2388)
Gene: VPS13A
Phenotype: Lingual dystonia (HP:0031008)
Associated disease: Levine-Critchley syndrome; Choreoacanthocytosis; Chorea-acanthocytosis; ChAc (ORPHA:2388)
Gene: VPS13A
Phenotype: Oromandibular dystonia (HP:0012048)
Associated disease: Levine-Critchley syndrome; Choreoacanthocytosis; Chorea-acanthocytosis; ChAc (ORPHA:2388)
Gene: VPS13A
Phenotype: Laryngeal dystonia (HP:0012049)
Associated disease: Levine-Critchley syndrome; Choreoacanthocytosis; Chorea-acanthocytosis; ChAc (ORPHA:2388)
Gene: VPS13A
Phenotype: Arthritis (HP:0001369)
Associated disease: Levine-Critchley syndrome; Choreoacanthocytosis; Chorea-acanthocytosis; ChAc (ORPHA:2388)
Gene: VPS13A
Phenotype: Upgaze palsy (HP:0025331)
Associated disease: Levine-Critchley syndrome; Choreoacanthocytosis; Chorea-acanthocytosis; ChAc (ORPHA:2388)
Gene: VPS13A
Phenotype: Slurred speech (HP:0001350)
Associated disease: Levine-Critchley syndrome; Choreoacanthocytosis; Chorea-acanthocytosis; ChAc (ORPHA:2388)
Gene: VPS13A
Phenotype: Dystonia (HP:0001332)
Associated disease: CHOREOACANTHOCYTOSIS (OMIM:200150)
Gene: VPS13A
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CHOREOACANTHOCYTOSIS (OMIM:200150)
Gene: VPS13A
Phenotype: Reduced tendon reflexes (HP:0001315)
Associated disease: Levine-Critchley syndrome; Choreoacanthocytosis; Chorea-acanthocytosis; ChAc (ORPHA:2388)
Gene: VPS13A
Phenotype: Parkinsonism (HP:0001300)
Associated disease: Levine-Critchley syndrome; Choreoacanthocytosis; Chorea-acanthocytosis; ChAc (ORPHA:2388)
Gene: VPS13A
Phenotype: Parkinsonism (HP:0001300)
Associated disease: CHOREOACANTHOCYTOSIS (OMIM:200150)
Gene: VPS13A
Phenotype: Self-neglect (HP:0025479)
Associated disease: Levine-Critchley syndrome; Choreoacanthocytosis; Chorea-acanthocytosis; ChAc (ORPHA:2388)
Gene: VPS13A
Phenotype: Hair-pulling (HP:0012167)
Associated disease: Levine-Critchley syndrome; Choreoacanthocytosis; Chorea-acanthocytosis; ChAc (ORPHA:2388)
Gene: VPS13A
Phenotype: Head-banging (HP:0012168)
Associated disease: Levine-Critchley syndrome; Choreoacanthocytosis; Chorea-acanthocytosis; ChAc (ORPHA:2388)
Gene: VPS13A
Phenotype: Increased circulating lactate dehydrogenase concentration (HP:0025435)
Associated disease: CHOREOACANTHOCYTOSIS (OMIM:200150)
Gene: VPS13A
Phenotype: Increased circulating lactate dehydrogenase concentration (HP:0025435)
Associated disease: Levine-Critchley syndrome; Choreoacanthocytosis; Chorea-acanthocytosis; ChAc (ORPHA:2388)
Gene: VPS13A
Phenotype: Square-wave jerks (HP:0025402)
Associated disease: Levine-Critchley syndrome; Choreoacanthocytosis; Chorea-acanthocytosis; ChAc (ORPHA:2388)
Gene: VPS13A
Phenotype: Dysphagia (HP:0002015)
Associated disease: CHOREOACANTHOCYTOSIS (OMIM:200150)
Gene: VPS13A
Phenotype: Dysphagia (HP:0002015)
Associated disease: Levine-Critchley syndrome; Choreoacanthocytosis; Chorea-acanthocytosis; ChAc (ORPHA:2388)
Gene: VPS13A
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: Levine-Critchley syndrome; Choreoacanthocytosis; Chorea-acanthocytosis; ChAc (ORPHA:2388)
Gene: VPS13A
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: CHOREOACANTHOCYTOSIS (OMIM:200150)
Gene: VPS13A
Phenotype: Bradykinesia (HP:0002067)
Associated disease: Levine-Critchley syndrome; Choreoacanthocytosis; Chorea-acanthocytosis; ChAc (ORPHA:2388)
Gene: VPS13A
Phenotype: Chorea (HP:0002072)
Associated disease: Levine-Critchley syndrome; Choreoacanthocytosis; Chorea-acanthocytosis; ChAc (ORPHA:2388)
Gene: VPS13A
Phenotype: Chorea (HP:0002072)
Associated disease: CHOREOACANTHOCYTOSIS (OMIM:200150)
Gene: VPS13A
Phenotype: Decreased number of peripheral myelinated nerve fibers (HP:0003380)
Associated disease: Levine-Critchley syndrome; Choreoacanthocytosis; Chorea-acanthocytosis; ChAc (ORPHA:2388)
Gene: VPS13A
Phenotype: Equinovarus deformity (HP:0008110)
Associated disease: Levine-Critchley syndrome; Choreoacanthocytosis; Chorea-acanthocytosis; ChAc (ORPHA:2388)
Gene: VPS13A
Phenotype: Peripheral axonal neuropathy (HP:0003477)
Associated disease: Levine-Critchley syndrome; Choreoacanthocytosis; Chorea-acanthocytosis; ChAc (ORPHA:2388)
Gene: VPS13A
Phenotype: Peripheral axonal neuropathy (HP:0003477)
Associated disease: CHOREOACANTHOCYTOSIS (OMIM:200150)
Gene: VPS13A
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: Levine-Critchley syndrome; Choreoacanthocytosis; Chorea-acanthocytosis; ChAc (ORPHA:2388)
Gene: VPS13A
Phenotype: EMG: neuropathic changes (HP:0003445)
Associated disease: Levine-Critchley syndrome; Choreoacanthocytosis; Chorea-acanthocytosis; ChAc (ORPHA:2388)
Gene: VPS13A
Phenotype: Absent Achilles reflex (HP:0003438)
Associated disease: Levine-Critchley syndrome; Choreoacanthocytosis; Chorea-acanthocytosis; ChAc (ORPHA:2388)
Gene: VPS13A
Phenotype: Middle age onset (HP:0003596)
Associated disease: CHOREOACANTHOCYTOSIS (OMIM:200150)
Gene: VPS13A
Phenotype: Poor motor coordination (HP:0002275)
Associated disease: Levine-Critchley syndrome; Choreoacanthocytosis; Chorea-acanthocytosis; ChAc (ORPHA:2388)
Gene: VPS13A
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Levine-Critchley syndrome; Choreoacanthocytosis; Chorea-acanthocytosis; ChAc (ORPHA:2388)
Gene: VPS13A
Phenotype: Self-injurious behavior (HP:0100716)
Associated disease: Levine-Critchley syndrome; Choreoacanthocytosis; Chorea-acanthocytosis; ChAc (ORPHA:2388)
Gene: VPS13A
Phenotype: Paranoia (HP:0011999)
Associated disease: Levine-Critchley syndrome; Choreoacanthocytosis; Chorea-acanthocytosis; ChAc (ORPHA:2388)
Gene: VPS13A
Phenotype: Decreased amplitude of sensory action potentials (HP:0007078)
Associated disease: Levine-Critchley syndrome; Choreoacanthocytosis; Chorea-acanthocytosis; ChAc (ORPHA:2388)
Gene: VPS13A
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: Levine-Critchley syndrome; Choreoacanthocytosis; Chorea-acanthocytosis; ChAc (ORPHA:2388)
Gene: VPS13A
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: Levine-Critchley syndrome; Choreoacanthocytosis; Chorea-acanthocytosis; ChAc (ORPHA:2388)
Gene: VPS13A
Phenotype: Limb muscle weakness (HP:0003690)
Associated disease: CHOREOACANTHOCYTOSIS (OMIM:200150)
Gene: VPS13A
Phenotype: Progressive (HP:0003676)
Associated disease: CHOREOACANTHOCYTOSIS (OMIM:200150)
Gene: VPS13A
Phenotype: Caudate atrophy (HP:0002340)
Associated disease: CHOREOACANTHOCYTOSIS (OMIM:200150)
Gene: VPS13A
Phenotype: Caudate atrophy (HP:0002340)
Associated disease: Levine-Critchley syndrome; Choreoacanthocytosis; Chorea-acanthocytosis; ChAc (ORPHA:2388)
Gene: VPS13A
Phenotype: Resting tremor (HP:0002322)
Associated disease: Levine-Critchley syndrome; Choreoacanthocytosis; Chorea-acanthocytosis; ChAc (ORPHA:2388)
Gene: VPS13A
Phenotype: Protruding tongue (HP:0010808)
Associated disease: Levine-Critchley syndrome; Choreoacanthocytosis; Chorea-acanthocytosis; ChAc (ORPHA:2388)
Gene: VPS13A
Phenotype: Orofacial dyskinesia (HP:0002310)
Associated disease: CHOREOACANTHOCYTOSIS (OMIM:200150)
Gene: VPS13A
Phenotype: Drooling (HP:0002307)
Associated disease: CHOREOACANTHOCYTOSIS (OMIM:200150)
Gene: VPS13A
Phenotype: Abnormally slow thought process (HP:0031843)
Associated disease: Levine-Critchley syndrome; Choreoacanthocytosis; Chorea-acanthocytosis; ChAc (ORPHA:2388)
Gene: VPS13A
Phenotype: Blepharospasm (HP:0000643)
Associated disease: Levine-Critchley syndrome; Choreoacanthocytosis; Chorea-acanthocytosis; ChAc (ORPHA:2388)
Gene: VPS13A
Phenotype: Acanthocytosis (HP:0001927)
Associated disease: CHOREOACANTHOCYTOSIS (OMIM:200150)
Gene: VPS13A
Phenotype: Acanthocytosis (HP:0001927)
Associated disease: Levine-Critchley syndrome; Choreoacanthocytosis; Chorea-acanthocytosis; ChAc (ORPHA:2388)
Gene: VPS13A
Phenotype: Small basal ganglia (HP:0012697)
Associated disease: Levine-Critchley syndrome; Choreoacanthocytosis; Chorea-acanthocytosis; ChAc (ORPHA:2388)
Gene: VPS13A
Phenotype: Peroneal muscle atrophy (HP:0009049)
Associated disease: Levine-Critchley syndrome; Choreoacanthocytosis; Chorea-acanthocytosis; ChAc (ORPHA:2388)
Gene: VPS13A
Phenotype: Iron accumulation in brain (HP:0012675)
Associated disease: Levine-Critchley syndrome; Choreoacanthocytosis; Chorea-acanthocytosis; ChAc (ORPHA:2388)
Gene: VPS13A
Phenotype: Elevated circulating aspartate aminotransferase concentration (HP:0031956)
Associated disease: Levine-Critchley syndrome; Choreoacanthocytosis; Chorea-acanthocytosis; ChAc (ORPHA:2388)
Gene: VPS13A
Phenotype: Functional motor deficit (HP:0004302)
Associated disease: Levine-Critchley syndrome; Choreoacanthocytosis; Chorea-acanthocytosis; ChAc (ORPHA:2388)
Gene: VPS13A
Phenotype: Elevated circulating alanine aminotransferase concentration (HP:0031964)
Associated disease: Levine-Critchley syndrome; Choreoacanthocytosis; Chorea-acanthocytosis; ChAc (ORPHA:2388)
Gene: VPS13A
Phenotype: Lateral ventricle dilatation (HP:0006956)
Associated disease: Levine-Critchley syndrome; Choreoacanthocytosis; Chorea-acanthocytosis; ChAc (ORPHA:2388)
Gene: VPS13A
Phenotype: Lateral ventricle dilatation (HP:0006956)
Associated disease: CHOREOACANTHOCYTOSIS (OMIM:200150)
Gene: VPS13A
Phenotype: Involuntary movements (HP:0004305)
Associated disease: Levine-Critchley syndrome; Choreoacanthocytosis; Chorea-acanthocytosis; ChAc (ORPHA:2388)
Gene: VPS13A
Phenotype: Abnormal putamen morphology (HP:0031982)
Associated disease: Levine-Critchley syndrome; Choreoacanthocytosis; Chorea-acanthocytosis; ChAc (ORPHA:2388)
Gene: VPS13A
Phenotype: Frontal cortical atrophy (HP:0006913)
Associated disease: Levine-Critchley syndrome; Choreoacanthocytosis; Chorea-acanthocytosis; ChAc (ORPHA:2388)
Gene: VPS13A
Phenotype: Micrographia (HP:0031908)
Associated disease: Levine-Critchley syndrome; Choreoacanthocytosis; Chorea-acanthocytosis; ChAc (ORPHA:2388)
Gene: VPS13A
Phenotype: Hyperactivity (HP:0000752)
Associated disease: Levine-Critchley syndrome; Choreoacanthocytosis; Chorea-acanthocytosis; ChAc (ORPHA:2388)
Gene: VPS13A
Phenotype: Personality changes (HP:0000751)
Associated disease: CHOREOACANTHOCYTOSIS (OMIM:200150)
Gene: VPS13A
Phenotype: Sensory neuropathy (HP:0000763)
Associated disease: CHOREOACANTHOCYTOSIS (OMIM:200150)
Gene: VPS13A
Phenotype: Phonic tics (HP:0100035)
Associated disease: Levine-Critchley syndrome; Choreoacanthocytosis; Chorea-acanthocytosis; ChAc (ORPHA:2388)
Gene: VPS13A
Phenotype: Tics (HP:0100033)
Associated disease: CHOREOACANTHOCYTOSIS (OMIM:200150)
Gene: VPS13A
Phenotype: Motor tics (HP:0100034)
Associated disease: Levine-Critchley syndrome; Choreoacanthocytosis; Chorea-acanthocytosis; ChAc (ORPHA:2388)
Gene: VPS13A
Phenotype: Irritability (HP:0000737)
Associated disease: Levine-Critchley syndrome; Choreoacanthocytosis; Chorea-acanthocytosis; ChAc (ORPHA:2388)
Gene: VPS13A
Phenotype: Anxiety (HP:0000739)
Associated disease: Levine-Critchley syndrome; Choreoacanthocytosis; Chorea-acanthocytosis; ChAc (ORPHA:2388)
Gene: VPS13A
Phenotype: Anxiety (HP:0000739)
Associated disease: CHOREOACANTHOCYTOSIS (OMIM:200150)
Gene: VPS13A
Phenotype: Disinhibition (HP:0000734)
Associated disease: CHOREOACANTHOCYTOSIS (OMIM:200150)
Gene: VPS13A
Phenotype: Short attention span (HP:0000736)
Associated disease: Levine-Critchley syndrome; Choreoacanthocytosis; Chorea-acanthocytosis; ChAc (ORPHA:2388)
Gene: VPS13A
Phenotype: Apathy (HP:0000741)
Associated disease: CHOREOACANTHOCYTOSIS (OMIM:200150)
Gene: VPS13A
Phenotype: Apathy (HP:0000741)
Associated disease: Levine-Critchley syndrome; Choreoacanthocytosis; Chorea-acanthocytosis; ChAc (ORPHA:2388)
Gene: VPS13A
Phenotype: Depression (HP:0000716)
Associated disease: Levine-Critchley syndrome; Choreoacanthocytosis; Chorea-acanthocytosis; ChAc (ORPHA:2388)
Gene: VPS13A
Phenotype: Depression (HP:0000716)
Associated disease: CHOREOACANTHOCYTOSIS (OMIM:200150)
Gene: VPS13A
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: Levine-Critchley syndrome; Choreoacanthocytosis; Chorea-acanthocytosis; ChAc (ORPHA:2388)
Gene: VPS13A
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: CHOREOACANTHOCYTOSIS (OMIM:200150)
Gene: VPS13A
Phenotype: Emotional lability (HP:0000712)
Associated disease: Levine-Critchley syndrome; Choreoacanthocytosis; Chorea-acanthocytosis; ChAc (ORPHA:2388)