TaoMedAI/RareMedData huggingface dataset:
Gene: SLC1A3
Phenotype: Oral-pharyngeal dysphagia (HP:0200136)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: SLC1A3
Phenotype: Progressive neurologic deterioration (HP:0002344)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: SLC1A3
Phenotype: EEG abnormality (HP:0002353)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: SLC1A3
Phenotype: Vertigo (HP:0002321)
Associated disease: Episodic ataxia type 6 (ORPHA:209967)
Gene: SLC1A3
Phenotype: Vertigo (HP:0002321)
Associated disease: EPISODIC ATAXIA, TYPE 6 (OMIM:612656)
Gene: SLC1A3
Phenotype: Headache (HP:0002315)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: SLC1A3
Phenotype: Headache (HP:0002315)
Associated disease: Episodic ataxia type 6 (ORPHA:209967)
Gene: SLC1A3
Phenotype: Paroxysmal dyskinesia (HP:0007166)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: SLC1A3
Phenotype: Hemiplegia (HP:0002301)
Associated disease: Episodic ataxia type 6 (ORPHA:209967)
Gene: SLC1A3
Phenotype: Hemiplegia (HP:0002301)
Associated disease: EPISODIC ATAXIA, TYPE 6 (OMIM:612656)
Gene: SLC1A3
Phenotype: Episodic generalized hypotonia (HP:0006852)
Associated disease: EPISODIC ATAXIA, TYPE 6 (OMIM:612656)
Gene: SLC1A3
Phenotype: Gaze-evoked nystagmus (HP:0000640)
Associated disease: Episodic ataxia type 6 (ORPHA:209967)
Gene: SLC1A3
Phenotype: Nystagmus (HP:0000639)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: SLC1A3
Phenotype: Nystagmus (HP:0000639)
Associated disease: EPISODIC ATAXIA, TYPE 6 (OMIM:612656)
Gene: SLC1A3
Phenotype: Diplopia (HP:0000651)
Associated disease: Episodic ataxia type 6 (ORPHA:209967)
Gene: SLC1A3
Phenotype: Diplopia (HP:0000651)
Associated disease: EPISODIC ATAXIA, TYPE 6 (OMIM:612656)
Gene: SLC1A3
Phenotype: Photophobia (HP:0000613)
Associated disease: EPISODIC ATAXIA, TYPE 6 (OMIM:612656)
Gene: SLC1A3
Phenotype: Photophobia (HP:0000613)
Associated disease: Episodic ataxia type 6 (ORPHA:209967)
Gene: SLC1A3
Phenotype: Dehydration (HP:0001944)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: SLC1A3
Phenotype: Oculomotor apraxia (HP:0000657)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: SLC1A3
Phenotype: Ocular flutter (HP:0031931)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: SLC1A3
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: SLC1A3
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: SLC1A3
Phenotype: Emotional lability (HP:0000712)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: SLC1A3
Phenotype: Atypical behavior (HP:0000708)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: SLC1A3
Phenotype: Mydriasis (HP:0011499)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: SLC1A3
Phenotype: Neurodevelopmental delay (HP:0012758)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: SLC1A3
Phenotype: Abdominal distention (HP:0003270)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: SLC1A3
Phenotype: Thin eyebrow (HP:0045074)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: SLC1A3
Phenotype: Pallor (HP:0000980)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: SLC1A3
Phenotype: Hyperhidrosis (HP:0000975)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: SLC1A3
Phenotype: Arrhythmia (HP:0011675)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: SLC1A3
Phenotype: Facial hypotonia (HP:0000297)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: SLC1A3
Phenotype: Abnormal T-wave (HP:0005135)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: SLC1A3
Phenotype: Skewfoot (HP:0032649)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: SLC1A3
Phenotype: Failure to thrive (HP:0001508)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: SLC1A3
Phenotype: Aspiration (HP:0002835)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: SLC1A3
Phenotype: Abnormality of the gastrointestinal tract (HP:0011024)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: SLC1A3
Phenotype: Abnormal autonomic nervous system physiology (HP:0012332)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: SLC1A3
Phenotype: High forehead (HP:0000348)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: SLC1A3
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: SLC1A3
Phenotype: Focal motor seizure (HP:0011153)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: SLC1A3
Phenotype: Cardiac conduction abnormality (HP:0031546)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: SLC1A3
Phenotype: Exotropia (HP:0000577)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: SLC1A3
Phenotype: Abnormal involuntary eye movements (HP:0012547)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: SLC1A3
Phenotype: Hypometric saccades (HP:0000571)
Associated disease: EPISODIC ATAXIA, TYPE 6 (OMIM:612656)
Gene: SLC1A3
Phenotype: Esotropia (HP:0000565)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: SLC4A3
Phenotype: Syncope (HP:0001279)
Associated disease: Familial short QT syndrome; SQTS (ORPHA:51083)
Gene: SLC4A3
Phenotype: Syncope (HP:0001279)
Associated disease: SHORT QT SYNDROME 7 (OMIM:620231)
Gene: SLC4A3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: SLC4A3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SHORT QT SYNDROME 7 (OMIM:620231)
Gene: SLC4A3
Phenotype: Juvenile onset (HP:0003621)
Associated disease: SHORT QT SYNDROME 7 (OMIM:620231)
Gene: SLC4A3
Phenotype: Palpitations (HP:0001962)
Associated disease: Familial short QT syndrome; SQTS (ORPHA:51083)
Gene: SLC4A3
Phenotype: Ventricular arrhythmia (HP:0004308)
Associated disease: Familial short QT syndrome; SQTS (ORPHA:51083)
Gene: SLC4A3
Phenotype: Young adult onset (HP:0011462)
Associated disease: SHORT QT SYNDROME 7 (OMIM:620231)
Gene: SLC4A3
Phenotype: Left ventricular noncompaction cardiomyopathy (HP:0011664)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: SLC4A3
Phenotype: Atrial fibrillation (HP:0005110)
Associated disease: Familial short QT syndrome; SQTS (ORPHA:51083)
Gene: SLC4A3
Phenotype: Shortened QT interval (HP:0012232)
Associated disease: Familial short QT syndrome; SQTS (ORPHA:51083)
Gene: SLC4A3
Phenotype: Shortened QT interval (HP:0012232)
Associated disease: SHORT QT SYNDROME 7 (OMIM:620231)
Gene: SLC4A3
Phenotype: Cardiac arrest (HP:0001695)
Associated disease: SHORT QT SYNDROME 7 (OMIM:620231)
Gene: SLC4A3
Phenotype: Torsade de pointes (HP:0001664)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: SLC4A3
Phenotype: Atrioventricular block (HP:0001678)
Associated disease: Familial short QT syndrome; SQTS (ORPHA:51083)
Gene: SLC4A3
Phenotype: Sudden cardiac death (HP:0001645)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: SLC4A3
Phenotype: Sudden cardiac death (HP:0001645)
Associated disease: Familial short QT syndrome; SQTS (ORPHA:51083)
Gene: SLC4A3
Phenotype: Sudden cardiac death (HP:0001645)
Associated disease: SHORT QT SYNDROME 7 (OMIM:620231)
Gene: SLC4A3
Phenotype: Ventricular fibrillation (HP:0001663)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: SLC4A3
Phenotype: Ventricular fibrillation (HP:0001663)
Associated disease: Familial short QT syndrome; SQTS (ORPHA:51083)
Gene: SLC4A3
Phenotype: Ventricular fibrillation (HP:0001663)
Associated disease: SHORT QT SYNDROME 7 (OMIM:620231)
Gene: SLC4A3
Phenotype: Bradycardia (HP:0001662)
Associated disease: Familial short QT syndrome; SQTS (ORPHA:51083)
Gene: SLC4A3
Phenotype: Aborted sudden cardiac death (HP:0031628)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: SLC4A3
Phenotype: Polymorphic and polytopic ventricular extrasystoles (HP:0006696)
Associated disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Gene: SLC1A4
Phenotype: Myoclonic spasms (HP:0003739)
Associated disease: Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome; ASCT1 deficiency; Spastic quadriplegia-thin corpus callosum-progressive postnatal microcephaly syndrome (ORPHA:447997)
Gene: SLC1A4
Phenotype: Hypertonia (HP:0001276)
Associated disease: Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome; ASCT1 deficiency; Spastic quadriplegia-thin corpus callosum-progressive postnatal microcephaly syndrome (ORPHA:447997)
Gene: SLC1A4
Phenotype: Motor delay (HP:0001270)
Associated disease: Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome; ASCT1 deficiency; Spastic quadriplegia-thin corpus callosum-progressive postnatal microcephaly syndrome (ORPHA:447997)
Gene: SLC1A4
Phenotype: Seizure (HP:0001250)
Associated disease: SPASTIC TETRAPLEGIA, THIN CORPUS CALLOSUM, AND PROGRESSIVE MICROCEPHALY (OMIM:616657)
Gene: SLC1A4
Phenotype: Hypotonia (HP:0001252)
Associated disease: Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome; ASCT1 deficiency; Spastic quadriplegia-thin corpus callosum-progressive postnatal microcephaly syndrome (ORPHA:447997)
Gene: SLC1A4
Phenotype: Hypotonia (HP:0001252)
Associated disease: SPASTIC TETRAPLEGIA, THIN CORPUS CALLOSUM, AND PROGRESSIVE MICROCEPHALY (OMIM:616657)
Gene: SLC1A4
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome; ASCT1 deficiency; Spastic quadriplegia-thin corpus callosum-progressive postnatal microcephaly syndrome (ORPHA:447997)
Gene: SLC1A4
Phenotype: Intellectual disability (HP:0001249)
Associated disease: SPASTIC TETRAPLEGIA, THIN CORPUS CALLOSUM, AND PROGRESSIVE MICROCEPHALY (OMIM:616657)
Gene: SLC1A4
Phenotype: Global developmental delay (HP:0001263)
Associated disease: SPASTIC TETRAPLEGIA, THIN CORPUS CALLOSUM, AND PROGRESSIVE MICROCEPHALY (OMIM:616657)
Gene: SLC1A4
Phenotype: Spasticity (HP:0001257)
Associated disease: SPASTIC TETRAPLEGIA, THIN CORPUS CALLOSUM, AND PROGRESSIVE MICROCEPHALY (OMIM:616657)
Gene: SLC1A4
Phenotype: Inability to walk (HP:0002540)
Associated disease: SPASTIC TETRAPLEGIA, THIN CORPUS CALLOSUM, AND PROGRESSIVE MICROCEPHALY (OMIM:616657)
Gene: SLC1A4
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease: Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome; ASCT1 deficiency; Spastic quadriplegia-thin corpus callosum-progressive postnatal microcephaly syndrome (ORPHA:447997)
Gene: SLC1A4
Phenotype: Spastic tetraplegia (HP:0002510)
Associated disease: SPASTIC TETRAPLEGIA, THIN CORPUS CALLOSUM, AND PROGRESSIVE MICROCEPHALY (OMIM:616657)
Gene: SLC1A4
Phenotype: Abnormal cerebral white matter morphology (HP:0002500)
Associated disease: SPASTIC TETRAPLEGIA, THIN CORPUS CALLOSUM, AND PROGRESSIVE MICROCEPHALY (OMIM:616657)
Gene: SLC1A4
Phenotype: Urinary incontinence (HP:0000020)
Associated disease: Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome; ASCT1 deficiency; Spastic quadriplegia-thin corpus callosum-progressive postnatal microcephaly syndrome (ORPHA:447997)
Gene: SLC1A4
Phenotype: Brisk reflexes (HP:0001348)
Associated disease: SPASTIC TETRAPLEGIA, THIN CORPUS CALLOSUM, AND PROGRESSIVE MICROCEPHALY (OMIM:616657)
Gene: SLC1A4
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome; ASCT1 deficiency; Spastic quadriplegia-thin corpus callosum-progressive postnatal microcephaly syndrome (ORPHA:447997)
Gene: SLC1A4
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: SPASTIC TETRAPLEGIA, THIN CORPUS CALLOSUM, AND PROGRESSIVE MICROCEPHALY (OMIM:616657)
Gene: SLC1A4
Phenotype: Thin corpus callosum (HP:0033725)
Associated disease: SPASTIC TETRAPLEGIA, THIN CORPUS CALLOSUM, AND PROGRESSIVE MICROCEPHALY (OMIM:616657)
Gene: SLC1A4
Phenotype: Absent speech (HP:0001344)
Associated disease: SPASTIC TETRAPLEGIA, THIN CORPUS CALLOSUM, AND PROGRESSIVE MICROCEPHALY (OMIM:616657)
Gene: SLC1A4
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPASTIC TETRAPLEGIA, THIN CORPUS CALLOSUM, AND PROGRESSIVE MICROCEPHALY (OMIM:616657)
Gene: SLC1A4
Phenotype: Hair-pulling (HP:0012167)
Associated disease: Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome; ASCT1 deficiency; Spastic quadriplegia-thin corpus callosum-progressive postnatal microcephaly syndrome (ORPHA:447997)
Gene: SLC1A4
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome; ASCT1 deficiency; Spastic quadriplegia-thin corpus callosum-progressive postnatal microcephaly syndrome (ORPHA:447997)
Gene: SLC1A4
Phenotype: Dysphagia (HP:0002015)
Associated disease: Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome; ASCT1 deficiency; Spastic quadriplegia-thin corpus callosum-progressive postnatal microcephaly syndrome (ORPHA:447997)
Gene: SLC1A4
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome; ASCT1 deficiency; Spastic quadriplegia-thin corpus callosum-progressive postnatal microcephaly syndrome (ORPHA:447997)
Gene: SLC1A4
Phenotype: Lower limb spasticity (HP:0002061)
Associated disease: Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome; ASCT1 deficiency; Spastic quadriplegia-thin corpus callosum-progressive postnatal microcephaly syndrome (ORPHA:447997)
Gene: SLC1A4
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome; ASCT1 deficiency; Spastic quadriplegia-thin corpus callosum-progressive postnatal microcephaly syndrome (ORPHA:447997)
Gene: SLC1A4
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: SPASTIC TETRAPLEGIA, THIN CORPUS CALLOSUM, AND PROGRESSIVE MICROCEPHALY (OMIM:616657)
Gene: SLC1A4
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: SPASTIC TETRAPLEGIA, THIN CORPUS CALLOSUM, AND PROGRESSIVE MICROCEPHALY (OMIM:616657)
Gene: SLC1A4
Phenotype: Babinski sign (HP:0003487)
Associated disease: SPASTIC TETRAPLEGIA, THIN CORPUS CALLOSUM, AND PROGRESSIVE MICROCEPHALY (OMIM:616657)
Gene: SLC1A4
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: SPASTIC TETRAPLEGIA, THIN CORPUS CALLOSUM, AND PROGRESSIVE MICROCEPHALY (OMIM:616657)
Gene: SLC1A4
Phenotype: Generalized-onset seizure (HP:0002197)
Associated disease: SPASTIC TETRAPLEGIA, THIN CORPUS CALLOSUM, AND PROGRESSIVE MICROCEPHALY (OMIM:616657)
Gene: SLC1A4
Phenotype: Clonus (HP:0002169)
Associated disease: Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome; ASCT1 deficiency; Spastic quadriplegia-thin corpus callosum-progressive postnatal microcephaly syndrome (ORPHA:447997)
Gene: SLC1A4
Phenotype: Infantile onset (HP:0003593)
Associated disease: SPASTIC TETRAPLEGIA, THIN CORPUS CALLOSUM, AND PROGRESSIVE MICROCEPHALY (OMIM:616657)
Gene: SLC1A4
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome; ASCT1 deficiency; Spastic quadriplegia-thin corpus callosum-progressive postnatal microcephaly syndrome (ORPHA:447997)
Gene: SLC1A4
Phenotype: Drooling (HP:0002307)
Associated disease: SPASTIC TETRAPLEGIA, THIN CORPUS CALLOSUM, AND PROGRESSIVE MICROCEPHALY (OMIM:616657)
Gene: SLC1A4
Phenotype: Cerebral hypomyelination (HP:0006808)
Associated disease: Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome; ASCT1 deficiency; Spastic quadriplegia-thin corpus callosum-progressive postnatal microcephaly syndrome (ORPHA:447997)
Gene: SLC1A4
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome; ASCT1 deficiency; Spastic quadriplegia-thin corpus callosum-progressive postnatal microcephaly syndrome (ORPHA:447997)
Gene: SLC1A4
Phenotype: Synophrys (HP:0000664)
Associated disease: Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome; ASCT1 deficiency; Spastic quadriplegia-thin corpus callosum-progressive postnatal microcephaly syndrome (ORPHA:447997)
Gene: SLC1A4
Phenotype: Hyperactivity (HP:0000752)
Associated disease: Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome; ASCT1 deficiency; Spastic quadriplegia-thin corpus callosum-progressive postnatal microcephaly syndrome (ORPHA:447997)
Gene: SLC1A4
Phenotype: Hyperactivity (HP:0000752)
Associated disease: SPASTIC TETRAPLEGIA, THIN CORPUS CALLOSUM, AND PROGRESSIVE MICROCEPHALY (OMIM:616657)
Gene: SLC1A4
Phenotype: Irritability (HP:0000737)
Associated disease: Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome; ASCT1 deficiency; Spastic quadriplegia-thin corpus callosum-progressive postnatal microcephaly syndrome (ORPHA:447997)
Gene: SLC1A4
Phenotype: Irritability (HP:0000737)
Associated disease: SPASTIC TETRAPLEGIA, THIN CORPUS CALLOSUM, AND PROGRESSIVE MICROCEPHALY (OMIM:616657)
Gene: SLC1A4
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome; ASCT1 deficiency; Spastic quadriplegia-thin corpus callosum-progressive postnatal microcephaly syndrome (ORPHA:447997)
Gene: SLC1A4
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome; ASCT1 deficiency; Spastic quadriplegia-thin corpus callosum-progressive postnatal microcephaly syndrome (ORPHA:447997)
Gene: SLC1A4
Phenotype: Gastrostomy tube feeding in infancy (HP:0011471)
Associated disease: Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome; ASCT1 deficiency; Spastic quadriplegia-thin corpus callosum-progressive postnatal microcephaly syndrome (ORPHA:447997)
Gene: SLC1A4
Phenotype: Ankle clonus (HP:0011448)
Associated disease: SPASTIC TETRAPLEGIA, THIN CORPUS CALLOSUM, AND PROGRESSIVE MICROCEPHALY (OMIM:616657)
Gene: SLC1A4
Phenotype: Primary microcephaly (HP:0011451)
Associated disease: Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome; ASCT1 deficiency; Spastic quadriplegia-thin corpus callosum-progressive postnatal microcephaly syndrome (ORPHA:447997)
Gene: SLC1A4
Phenotype: Ankle flexion contracture (HP:0006466)
Associated disease: SPASTIC TETRAPLEGIA, THIN CORPUS CALLOSUM, AND PROGRESSIVE MICROCEPHALY (OMIM:616657)
Gene: SLC1A4
Phenotype: Multiple joint contractures (HP:0002828)
Associated disease: Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome; ASCT1 deficiency; Spastic quadriplegia-thin corpus callosum-progressive postnatal microcephaly syndrome (ORPHA:447997)
Gene: SLC1A4
Phenotype: Progressive microcephaly (HP:0000253)
Associated disease: SPASTIC TETRAPLEGIA, THIN CORPUS CALLOSUM, AND PROGRESSIVE MICROCEPHALY (OMIM:616657)
Gene: SLC1A4
Phenotype: Microcephaly (HP:0000252)
Associated disease: SPASTIC TETRAPLEGIA, THIN CORPUS CALLOSUM, AND PROGRESSIVE MICROCEPHALY (OMIM:616657)
Gene: SLC1A4
Phenotype: Low-set ears (HP:0000369)
Associated disease: Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome; ASCT1 deficiency; Spastic quadriplegia-thin corpus callosum-progressive postnatal microcephaly syndrome (ORPHA:447997)
Gene: SLC1A4
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome; ASCT1 deficiency; Spastic quadriplegia-thin corpus callosum-progressive postnatal microcephaly syndrome (ORPHA:447997)
Gene: SLC1A4
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome; ASCT1 deficiency; Spastic quadriplegia-thin corpus callosum-progressive postnatal microcephaly syndrome (ORPHA:447997)
Gene: SLC1A4
Phenotype: Infantile spasms (HP:0012469)
Associated disease: Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome; ASCT1 deficiency; Spastic quadriplegia-thin corpus callosum-progressive postnatal microcephaly syndrome (ORPHA:447997)
Gene: SLC1A4
Phenotype: Brain atrophy (HP:0012444)
Associated disease: Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome; ASCT1 deficiency; Spastic quadriplegia-thin corpus callosum-progressive postnatal microcephaly syndrome (ORPHA:447997)
Gene: SLC1A4
Phenotype: Protruding ear (HP:0000411)
Associated disease: Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome; ASCT1 deficiency; Spastic quadriplegia-thin corpus callosum-progressive postnatal microcephaly syndrome (ORPHA:447997)
Gene: SLC1A4
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome; ASCT1 deficiency; Spastic quadriplegia-thin corpus callosum-progressive postnatal microcephaly syndrome (ORPHA:447997)
Gene: SLC1A4
Phenotype: Secondary microcephaly (HP:0005484)
Associated disease: Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome; ASCT1 deficiency; Spastic quadriplegia-thin corpus callosum-progressive postnatal microcephaly syndrome (ORPHA:447997)
Gene: SLC2A1
Phenotype: Brachydactyly (HP:0001156)
Associated disease: CHC type 2; Hereditary cryohydrocytosis type 2; Hereditary cryohydrocytosis with reduced stomatin; Stomatin-deficient cryohydrocytosis; sdCHC (ORPHA:168577)
Gene: SLC2A1
Phenotype: Bulbar signs (HP:0002483)
Associated disease: AHC; Alternating hemiplegia of childhood (ORPHA:2131)
Gene: SLC2A1
Phenotype: Fetal distress (HP:0025116)
Associated disease: STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS (OMIM:608885)
Gene: SLC2A1
Phenotype: Increased CSF lactate (HP:0002490)
Associated disease: GLUT1 DEFICIENCY SYNDROME 2 (OMIM:612126)
Gene: SLC2A1
Phenotype: Syndactyly (HP:0001159)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: SLC2A1
Phenotype: Extrapyramidal dyskinesia (HP:0007308)
Associated disease: Classic GLUT1-DS; De Vivo disease; Encephalopathy due to GLUT1 deficiency; Classic glucose transporter type 1 deficiency syndrome; Classic GLUT1 deficiency syndrome (ORPHA:71277)