TaoMedAI/RareMedData huggingface dataset:
Gene: SKIC2
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: Syndromic diarrhea/Tricho-hepato-enteric syndrome; Syndromic diarrhea; SD/THE; Tricho-hepato-enteric syndrome; Trichohepatoenteric syndrome; Phenotypic diarrhea (ORPHA:84064)
Gene: SKIC2
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: TRICHOHEPATOENTERIC SYNDROME 2 (OMIM:614602)
Gene: SKIC2
Phenotype: Glaucoma (HP:0000501)
Associated disease: Syndromic diarrhea/Tricho-hepato-enteric syndrome; Syndromic diarrhea; SD/THE; Tricho-hepato-enteric syndrome; Trichohepatoenteric syndrome; Phenotypic diarrhea (ORPHA:84064)
Gene: SKIC2
Phenotype: Thrombocytosis (HP:0001894)
Associated disease: Syndromic diarrhea/Tricho-hepato-enteric syndrome; Syndromic diarrhea; SD/THE; Tricho-hepato-enteric syndrome; Trichohepatoenteric syndrome; Phenotypic diarrhea (ORPHA:84064)
Gene: SKIC2
Phenotype: Prominent forehead (HP:0011220)
Associated disease: TRICHOHEPATOENTERIC SYNDROME 2 (OMIM:614602)
Gene: SKIC2
Phenotype: Prominent forehead (HP:0011220)
Associated disease: Syndromic diarrhea/Tricho-hepato-enteric syndrome; Syndromic diarrhea; SD/THE; Tricho-hepato-enteric syndrome; Trichohepatoenteric syndrome; Phenotypic diarrhea (ORPHA:84064)
Gene: SKIC2
Phenotype: Decreased total lymphocyte count (HP:0001888)
Associated disease: Syndromic diarrhea/Tricho-hepato-enteric syndrome; Syndromic diarrhea; SD/THE; Tricho-hepato-enteric syndrome; Trichohepatoenteric syndrome; Phenotypic diarrhea (ORPHA:84064)
Gene: SLC1A1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DICARBOXYLIC AMINOACIDURIA (OMIM:222730)
Gene: SLC1A1
Phenotype: Aspartic aciduria (HP:0032401)
Associated disease: DICARBOXYLIC AMINOACIDURIA (OMIM:222730)
Gene: SLC1A1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DICARBOXYLIC AMINOACIDURIA (OMIM:222730)
Gene: SLC1A1
Phenotype: Aminoaciduria (HP:0003355)
Associated disease: DICARBOXYLIC AMINOACIDURIA (OMIM:222730)
Gene: SLC1A1
Phenotype: Nephrolithiasis (HP:0000787)
Associated disease: DICARBOXYLIC AMINOACIDURIA (OMIM:222730)
Gene: SLC1A1
Phenotype: Fasting hypoglycemia (HP:0003162)
Associated disease: DICARBOXYLIC AMINOACIDURIA (OMIM:222730)
Gene: SLC1A2
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 41 (OMIM:617105)
Gene: SLC1A2
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: SLC1A2
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: SLC1A2
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: SLC1A2
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 41 (OMIM:617105)
Gene: SLC1A2
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: SLC1A2
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: SLC1A2
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: SLC1A2
Phenotype: Lethargy (HP:0001254)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 41 (OMIM:617105)
Gene: SLC1A2
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: SLC1A2
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: SLC1A2
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: SLC1A2
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: SLC1A2
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: SLC1A2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 41 (OMIM:617105)
Gene: SLC1A2
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: SLC1A2
Phenotype: Spasticity (HP:0001257)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 41 (OMIM:617105)
Gene: SLC1A2
Phenotype: Inability to walk (HP:0002540)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 41 (OMIM:617105)
Gene: SLC1A2
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: SLC1A2
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 41 (OMIM:617105)
Gene: SLC1A2
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: SLC1A2
Phenotype: Flexion contracture (HP:0001371)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 41 (OMIM:617105)
Gene: SLC1A2
Phenotype: Absent speech (HP:0001344)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 41 (OMIM:617105)
Gene: SLC1A2
Phenotype: Tremor (HP:0001337)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SLC1A2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 41 (OMIM:617105)
Gene: SLC1A2
Phenotype: Myoclonus (HP:0001336)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SLC1A2
Phenotype: Reduced tendon reflexes (HP:0001315)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SLC1A2
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 41 (OMIM:617105)
Gene: SLC1A2
Phenotype: Nephrocalcinosis (HP:0000121)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 41 (OMIM:617105)
Gene: SLC1A2
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 41 (OMIM:617105)
Gene: SLC1A2
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SLC1A2
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 41 (OMIM:617105)
Gene: SLC1A2
Phenotype: Rigidity (HP:0002063)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SLC1A2
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 41 (OMIM:617105)
Gene: SLC1A2
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SLC1A2
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 41 (OMIM:617105)
Gene: SLC1A2
Phenotype: Babinski sign (HP:0003487)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 41 (OMIM:617105)
Gene: SLC1A2
Phenotype: Status epilepticus (HP:0002133)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SLC1A2
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 41 (OMIM:617105)
Gene: SLC1A2
Phenotype: Intellectual disability, profound (HP:0002187)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 41 (OMIM:617105)
Gene: SLC1A2
Phenotype: Infantile onset (HP:0003593)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 41 (OMIM:617105)
Gene: SLC1A2
Phenotype: Tetraparesis (HP:0002273)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 41 (OMIM:617105)
Gene: SLC1A2
Phenotype: Impulsivity (HP:0100710)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SLC1A2
Phenotype: Epileptic encephalopathy (HP:0200134)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 41 (OMIM:617105)
Gene: SLC1A2
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SLC1A2
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SLC1A2
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 41 (OMIM:617105)
Gene: SLC1A2
Phenotype: Developmental regression (HP:0002376)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SLC1A2
Phenotype: Developmental regression (HP:0002376)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 41 (OMIM:617105)
Gene: SLC1A2
Phenotype: EEG abnormality (HP:0002353)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 41 (OMIM:617105)
Gene: SLC1A2
Phenotype: Unsteady gait (HP:0002317)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SLC1A2
Phenotype: EEG with multifocal slow activity (HP:0010844)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SLC1A2
Phenotype: Dyskinesia (HP:0100660)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SLC1A2
Phenotype: Generalized tonic seizure (HP:0010818)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 41 (OMIM:617105)
Gene: SLC1A2
Phenotype: Neonatal onset (HP:0003623)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 41 (OMIM:617105)
Gene: SLC1A2
Phenotype: Nystagmus (HP:0000639)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SLC1A2
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SLC1A2
Phenotype: Delayed eruption of teeth (HP:0000684)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 41 (OMIM:617105)
Gene: SLC1A2
Phenotype: Hypodontia (HP:0000668)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SLC1A2
Phenotype: Short stature (HP:0004322)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SLC1A2
Phenotype: Involuntary movements (HP:0004305)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SLC1A2
Phenotype: Irritability (HP:0000737)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 41 (OMIM:617105)
Gene: SLC1A2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SLC1A2
Phenotype: Autism (HP:0000717)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SLC1A2
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SLC1A2
Phenotype: Abnormality of coordination (HP:0011443)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SLC1A2
Phenotype: Microcephaly (HP:0000252)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SLC1A2
Phenotype: Microcephaly (HP:0000252)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 41 (OMIM:617105)
Gene: SLC1A2
Phenotype: Myoclonic status epilepticus (HP:0032667)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 41 (OMIM:617105)
Gene: SLC1A2
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SLC1A2
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SLC1A2
Phenotype: Epileptic spasm (HP:0011097)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 41 (OMIM:617105)
Gene: SLC1A2
Phenotype: High forehead (HP:0000348)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SLC1A2
Phenotype: Myoclonic seizure (HP:0032794)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 41 (OMIM:617105)
Gene: SLC1A2
Phenotype: Status epilepticus without prominent motor symptoms (HP:0031475)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 41 (OMIM:617105)
Gene: SLC1A2
Phenotype: Focal tonic seizure (HP:0011167)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 41 (OMIM:617105)
Gene: SLC1A2
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SLC1A2
Phenotype: Brain atrophy (HP:0012444)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SLC1A2
Phenotype: Abnormal myelination (HP:0012447)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SLC1A2
Phenotype: Ptosis (HP:0000508)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SLC1A2
Phenotype: Abnormality of vision (HP:0000504)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SLC1A2
Phenotype: Abnormal involuntary eye movements (HP:0012547)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SLC1A2
Phenotype: Retinal degeneration (HP:0000546)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SLC1A3
Phenotype: Bulbar signs (HP:0002483)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: SLC1A3
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: SLC1A3
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: Episodic ataxia type 6 (ORPHA:209967)
Gene: SLC1A3
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: EPISODIC ATAXIA, TYPE 6 (OMIM:612656)
Gene: SLC1A3
Phenotype: Motor delay (HP:0001270)
Associated disease: EPISODIC ATAXIA, TYPE 6 (OMIM:612656)
Gene: SLC1A3
Phenotype: Hemiparesis (HP:0001269)
Associated disease: EPISODIC ATAXIA, TYPE 6 (OMIM:612656)
Gene: SLC1A3
Phenotype: Areflexia (HP:0001284)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: SLC1A3
Phenotype: Seizure (HP:0001250)
Associated disease: Episodic ataxia type 6 (ORPHA:209967)
Gene: SLC1A3
Phenotype: Seizure (HP:0001250)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: SLC1A3
Phenotype: Seizure (HP:0001250)
Associated disease: EPISODIC ATAXIA, TYPE 6 (OMIM:612656)
Gene: SLC1A3
Phenotype: Hypotonia (HP:0001252)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: SLC1A3
Phenotype: Ataxia (HP:0001251)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: SLC1A3
Phenotype: Ataxia (HP:0001251)
Associated disease: Episodic ataxia type 6 (ORPHA:209967)
Gene: SLC1A3
Phenotype: Gastrointestinal dysmotility (HP:0002579)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: SLC1A3
Phenotype: Intellectual disability (HP:0001249)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: SLC1A3
Phenotype: Choreoathetosis (HP:0001266)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: SLC1A3
Phenotype: Dysarthria (HP:0001260)
Associated disease: EPISODIC ATAXIA, TYPE 6 (OMIM:612656)
Gene: SLC1A3
Phenotype: Dysarthria (HP:0001260)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: SLC1A3
Phenotype: Brain imaging abnormality (HP:0410263)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: SLC1A3
Phenotype: Slurred speech (HP:0001350)
Associated disease: Episodic ataxia type 6 (ORPHA:209967)
Gene: SLC1A3
Phenotype: Slurred speech (HP:0001350)
Associated disease: EPISODIC ATAXIA, TYPE 6 (OMIM:612656)
Gene: SLC1A3
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: SLC1A3
Phenotype: Dystonia (HP:0001332)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: SLC1A3
Phenotype: Tremor (HP:0001337)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: SLC1A3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: EPISODIC ATAXIA, TYPE 6 (OMIM:612656)
Gene: SLC1A3
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: EPISODIC ATAXIA, TYPE 6 (OMIM:612656)
Gene: SLC1A3
Phenotype: Episodic hemiplegia (HP:0012194)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: SLC1A3
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: Episodic ataxia type 6 (ORPHA:209967)
Gene: SLC1A3
Phenotype: Flushing (HP:0031284)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: SLC1A3
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: SLC1A3
Phenotype: Nausea (HP:0002018)
Associated disease: EPISODIC ATAXIA, TYPE 6 (OMIM:612656)
Gene: SLC1A3
Phenotype: Constipation (HP:0002019)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: SLC1A3
Phenotype: Nausea and vomiting (HP:0002017)
Associated disease: Episodic ataxia type 6 (ORPHA:209967)
Gene: SLC1A3
Phenotype: Diarrhea (HP:0002014)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: SLC1A3
Phenotype: Dysphagia (HP:0002015)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: SLC1A3
Phenotype: Vomiting (HP:0002013)
Associated disease: EPISODIC ATAXIA, TYPE 6 (OMIM:612656)
Gene: SLC1A3
Phenotype: Vomiting (HP:0002013)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: SLC1A3
Phenotype: Respiratory distress (HP:0002098)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: SLC1A3
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: SLC1A3
Phenotype: Rigidity (HP:0002063)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: SLC1A3
Phenotype: Truncal ataxia (HP:0002078)
Associated disease: EPISODIC ATAXIA, TYPE 6 (OMIM:612656)
Gene: SLC1A3
Phenotype: Migraine (HP:0002076)
Associated disease: Episodic ataxia type 6 (ORPHA:209967)
Gene: SLC1A3
Phenotype: Migraine (HP:0002076)
Associated disease: EPISODIC ATAXIA, TYPE 6 (OMIM:612656)
Gene: SLC1A3
Phenotype: Chorea (HP:0002072)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: SLC1A3
Phenotype: Anorexia (HP:0002039)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: SLC1A3
Phenotype: Status epilepticus (HP:0002133)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: SLC1A3
Phenotype: Episodic ataxia (HP:0002131)
Associated disease: EPISODIC ATAXIA, TYPE 6 (OMIM:612656)
Gene: SLC1A3
Phenotype: Apnea (HP:0002104)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: SLC1A3
Phenotype: Phonophobia (HP:0002183)
Associated disease: EPISODIC ATAXIA, TYPE 6 (OMIM:612656)
Gene: SLC1A3
Phenotype: Phonophobia (HP:0002183)
Associated disease: Episodic ataxia type 6 (ORPHA:209967)
Gene: SLC1A3
Phenotype: Exaggerated cupid's bow (HP:0002263)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: SLC1A3
Phenotype: Infantile onset (HP:0003593)
Associated disease: EPISODIC ATAXIA, TYPE 6 (OMIM:612656)
Gene: SLC1A3
Phenotype: Tetraparesis (HP:0002273)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: SLC1A3
Phenotype: Impulsivity (HP:0100710)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)