TaoMedAI/RareMedData huggingface dataset:
Gene: SLC6A1
Phenotype: Anteverted nares (HP:0000463)
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: SLC6A1
Phenotype: Wide nasal bridge (HP:0000431)
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: SLC6A1
Phenotype: Prominent forehead (HP:0011220)
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: SLC6A1
Phenotype: Microphthalmia (HP:0000568)
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: SLC6A2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ORTHOSTATIC INTOLERANCE (OMIM:604715)
Gene: SLC6A2
Phenotype: Orthostatic tachycardia (HP:0012173)
Associated disease: ORTHOSTATIC INTOLERANCE (OMIM:604715)
Gene: SLC6A2
Phenotype: Elevated urinary norepinephrine level (HP:0003345)
Associated disease: ORTHOSTATIC INTOLERANCE (OMIM:604715)
Gene: SLC6A2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: ORTHOSTATIC INTOLERANCE (OMIM:604715)
Gene: SLC6A3
Phenotype: Hyperkinetic movements (HP:0002487)
Associated disease: PARKINSONISM-DYSTONIA, INFANTILE, 1 (OMIM:613135)
Gene: SLC6A3
Phenotype: Limb dystonia (HP:0002451)
Associated disease: PARKINSONISM-DYSTONIA, INFANTILE, 1 (OMIM:613135)
Gene: SLC6A3
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: Infantile dystonia-parkinsonism; PKDYS; IPD; Dopamine transporter deficiency syndrome; DTDS (ORPHA:238455)
Gene: SLC6A3
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: PARKINSONISM-DYSTONIA, INFANTILE, 1 (OMIM:613135)
Gene: SLC6A3
Phenotype: Hypertonia (HP:0001276)
Associated disease: Infantile dystonia-parkinsonism; PKDYS; IPD; Dopamine transporter deficiency syndrome; DTDS (ORPHA:238455)
Gene: SLC6A3
Phenotype: Hypertonia (HP:0001276)
Associated disease: PARKINSONISM-DYSTONIA, INFANTILE, 1 (OMIM:613135)
Gene: SLC6A3
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Infantile dystonia-parkinsonism; PKDYS; IPD; Dopamine transporter deficiency syndrome; DTDS (ORPHA:238455)
Gene: SLC6A3
Phenotype: Global developmental delay (HP:0001263)
Associated disease: PARKINSONISM-DYSTONIA, INFANTILE, 1 (OMIM:613135)
Gene: SLC6A3
Phenotype: Limb hypertonia (HP:0002509)
Associated disease: Infantile dystonia-parkinsonism; PKDYS; IPD; Dopamine transporter deficiency syndrome; DTDS (ORPHA:238455)
Gene: SLC6A3
Phenotype: Oromandibular dystonia (HP:0012048)
Associated disease: PARKINSONISM-DYSTONIA, INFANTILE, 1 (OMIM:613135)
Gene: SLC6A3
Phenotype: Dystonia (HP:0001332)
Associated disease: Infantile dystonia-parkinsonism; PKDYS; IPD; Dopamine transporter deficiency syndrome; DTDS (ORPHA:238455)
Gene: SLC6A3
Phenotype: Dystonia (HP:0001332)
Associated disease: PARKINSONISM-DYSTONIA, INFANTILE, 1 (OMIM:613135)
Gene: SLC6A3
Phenotype: Absent speech (HP:0001344)
Associated disease: Infantile dystonia-parkinsonism; PKDYS; IPD; Dopamine transporter deficiency syndrome; DTDS (ORPHA:238455)
Gene: SLC6A3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PARKINSONISM-DYSTONIA, INFANTILE, 1 (OMIM:613135)
Gene: SLC6A3
Phenotype: Tremor (HP:0001337)
Associated disease: PARKINSONISM-DYSTONIA, INFANTILE, 1 (OMIM:613135)
Gene: SLC6A3
Phenotype: Parkinsonism (HP:0001300)
Associated disease: Infantile dystonia-parkinsonism; PKDYS; IPD; Dopamine transporter deficiency syndrome; DTDS (ORPHA:238455)
Gene: SLC6A3
Phenotype: Parkinsonism (HP:0001300)
Associated disease: PARKINSONISM-DYSTONIA, INFANTILE, 1 (OMIM:613135)
Gene: SLC6A3
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: Infantile dystonia-parkinsonism; PKDYS; IPD; Dopamine transporter deficiency syndrome; DTDS (ORPHA:238455)
Gene: SLC6A3
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: PARKINSONISM-DYSTONIA, INFANTILE, 1 (OMIM:613135)
Gene: SLC6A3
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Infantile dystonia-parkinsonism; PKDYS; IPD; Dopamine transporter deficiency syndrome; DTDS (ORPHA:238455)
Gene: SLC6A3
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: PARKINSONISM-DYSTONIA, INFANTILE, 1 (OMIM:613135)
Gene: SLC6A3
Phenotype: Constipation (HP:0002019)
Associated disease: Infantile dystonia-parkinsonism; PKDYS; IPD; Dopamine transporter deficiency syndrome; DTDS (ORPHA:238455)
Gene: SLC6A3
Phenotype: Constipation (HP:0002019)
Associated disease: PARKINSONISM-DYSTONIA, INFANTILE, 1 (OMIM:613135)
Gene: SLC6A3
Phenotype: Bradykinesia (HP:0002067)
Associated disease: Infantile dystonia-parkinsonism; PKDYS; IPD; Dopamine transporter deficiency syndrome; DTDS (ORPHA:238455)
Gene: SLC6A3
Phenotype: Bradykinesia (HP:0002067)
Associated disease: PARKINSONISM-DYSTONIA, INFANTILE, 1 (OMIM:613135)
Gene: SLC6A3
Phenotype: Rigidity (HP:0002063)
Associated disease: PARKINSONISM-DYSTONIA, INFANTILE, 1 (OMIM:613135)
Gene: SLC6A3
Phenotype: Abnormal pyramidal tract morphology (HP:0002062)
Associated disease: PARKINSONISM-DYSTONIA, INFANTILE, 1 (OMIM:613135)
Gene: SLC6A3
Phenotype: Chorea (HP:0002072)
Associated disease: Infantile dystonia-parkinsonism; PKDYS; IPD; Dopamine transporter deficiency syndrome; DTDS (ORPHA:238455)
Gene: SLC6A3
Phenotype: Chorea (HP:0002072)
Associated disease: PARKINSONISM-DYSTONIA, INFANTILE, 1 (OMIM:613135)
Gene: SLC6A3
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: PARKINSONISM-DYSTONIA, INFANTILE, 1 (OMIM:613135)
Gene: SLC6A3
Phenotype: Oculogyric crisis (HP:0010553)
Associated disease: Infantile dystonia-parkinsonism; PKDYS; IPD; Dopamine transporter deficiency syndrome; DTDS (ORPHA:238455)
Gene: SLC6A3
Phenotype: Oculogyric crisis (HP:0010553)
Associated disease: PARKINSONISM-DYSTONIA, INFANTILE, 1 (OMIM:613135)
Gene: SLC6A3
Phenotype: Infantile onset (HP:0003593)
Associated disease: PARKINSONISM-DYSTONIA, INFANTILE, 1 (OMIM:613135)
Gene: SLC6A3
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Infantile dystonia-parkinsonism; PKDYS; IPD; Dopamine transporter deficiency syndrome; DTDS (ORPHA:238455)
Gene: SLC6A3
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: PARKINSONISM-DYSTONIA, INFANTILE, 1 (OMIM:613135)
Gene: SLC6A3
Phenotype: Cogwheel rigidity (HP:0002396)
Associated disease: PARKINSONISM-DYSTONIA, INFANTILE, 1 (OMIM:613135)
Gene: SLC6A3
Phenotype: Hypokinesia (HP:0002375)
Associated disease: Infantile dystonia-parkinsonism; PKDYS; IPD; Dopamine transporter deficiency syndrome; DTDS (ORPHA:238455)
Gene: SLC6A3
Phenotype: Progressive (HP:0003676)
Associated disease: PARKINSONISM-DYSTONIA, INFANTILE, 1 (OMIM:613135)
Gene: SLC6A3
Phenotype: Dyskinesia (HP:0100660)
Associated disease: PARKINSONISM-DYSTONIA, INFANTILE, 1 (OMIM:613135)
Gene: SLC6A3
Phenotype: Neonatal onset (HP:0003623)
Associated disease: PARKINSONISM-DYSTONIA, INFANTILE, 1 (OMIM:613135)
Gene: SLC6A3
Phenotype: Orofacial dyskinesia (HP:0002310)
Associated disease: Infantile dystonia-parkinsonism; PKDYS; IPD; Dopamine transporter deficiency syndrome; DTDS (ORPHA:238455)
Gene: SLC6A3
Phenotype: Abnormal circulating carboxylic acid concentration (HP:0004354)
Associated disease: Infantile dystonia-parkinsonism; PKDYS; IPD; Dopamine transporter deficiency syndrome; DTDS (ORPHA:238455)
Gene: SLC6A3
Phenotype: Ocular flutter (HP:0031931)
Associated disease: PARKINSONISM-DYSTONIA, INFANTILE, 1 (OMIM:613135)
Gene: SLC6A3
Phenotype: Cerebral palsy (HP:0100021)
Associated disease: Infantile dystonia-parkinsonism; PKDYS; IPD; Dopamine transporter deficiency syndrome; DTDS (ORPHA:238455)
Gene: SLC6A3
Phenotype: Irritability (HP:0000737)
Associated disease: Infantile dystonia-parkinsonism; PKDYS; IPD; Dopamine transporter deficiency syndrome; DTDS (ORPHA:238455)
Gene: SLC6A3
Phenotype: Increased CSF homovanillic acid concentration (HP:0034201)
Associated disease: PARKINSONISM-DYSTONIA, INFANTILE, 1 (OMIM:613135)
Gene: SLC6A3
Phenotype: Hypomimic face (HP:0000338)
Associated disease: PARKINSONISM-DYSTONIA, INFANTILE, 1 (OMIM:613135)
Gene: SLC6A3
Phenotype: Hypomimic face (HP:0000338)
Associated disease: Infantile dystonia-parkinsonism; PKDYS; IPD; Dopamine transporter deficiency syndrome; DTDS (ORPHA:238455)
Gene: SLC6A4
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: OBSESSIVE-COMPULSIVE DISORDER (OMIM:164230)
Gene: SLC6A4
Phenotype: Skin-picking (HP:0012166)
Associated disease: OBSESSIVE-COMPULSIVE DISORDER (OMIM:164230)
Gene: SLC6A4
Phenotype: Anxiety (HP:0000739)
Associated disease: OBSESSIVE-COMPULSIVE DISORDER (OMIM:164230)
Gene: SLC6A4
Phenotype: Depression (HP:0000716)
Associated disease: OBSESSIVE-COMPULSIVE DISORDER (OMIM:164230)
Gene: SLC6A4
Phenotype: Compulsive behaviors (HP:0000722)
Associated disease: OBSESSIVE-COMPULSIVE DISORDER (OMIM:164230)
Gene: SLC6A4
Phenotype: Collectionism (HP:0030212)
Associated disease: OBSESSIVE-COMPULSIVE DISORDER (OMIM:164230)
Gene: SLC6A6
Phenotype: Left ventricular systolic dysfunction (HP:0025169)
Associated disease: HYPOTAURINEMIC RETINAL DEGENERATION AND CARDIOMYOPATHY (OMIM:145350)
Gene: SLC6A6
Phenotype: Hypotaurinemia (HP:0500182)
Associated disease: HYPOTAURINEMIC RETINAL DEGENERATION AND CARDIOMYOPATHY (OMIM:145350)
Gene: SLC6A6
Phenotype: Macular atrophy (HP:0007401)
Associated disease: HYPOTAURINEMIC RETINAL DEGENERATION AND CARDIOMYOPATHY (OMIM:145350)
Gene: SLC6A6
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: HYPOTAURINEMIC RETINAL DEGENERATION AND CARDIOMYOPATHY (OMIM:145350)
Gene: SLC6A6
Phenotype: Infantile onset (HP:0003593)
Associated disease: HYPOTAURINEMIC RETINAL DEGENERATION AND CARDIOMYOPATHY (OMIM:145350)
Gene: SLC6A6
Phenotype: Congenital onset (HP:0003577)
Associated disease: HYPOTAURINEMIC RETINAL DEGENERATION AND CARDIOMYOPATHY (OMIM:145350)
Gene: SLC6A6
Phenotype: Peripheral retinal atrophy (HP:0200070)
Associated disease: HYPOTAURINEMIC RETINAL DEGENERATION AND CARDIOMYOPATHY (OMIM:145350)
Gene: SLC6A6
Phenotype: High hypermetropia (HP:0008499)
Associated disease: HYPOTAURINEMIC RETINAL DEGENERATION AND CARDIOMYOPATHY (OMIM:145350)
Gene: SLC6A6
Phenotype: Nystagmus (HP:0000639)
Associated disease: HYPOTAURINEMIC RETINAL DEGENERATION AND CARDIOMYOPATHY (OMIM:145350)
Gene: SLC6A6
Phenotype: Photoreceptor layer loss on macular OCT (HP:0030609)
Associated disease: HYPOTAURINEMIC RETINAL DEGENERATION AND CARDIOMYOPATHY (OMIM:145350)
Gene: SLC6A6
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: HYPOTAURINEMIC RETINAL DEGENERATION AND CARDIOMYOPATHY (OMIM:145350)
Gene: SLC6A6
Phenotype: Retinal pigment epithelial mottling (HP:0007814)
Associated disease: HYPOTAURINEMIC RETINAL DEGENERATION AND CARDIOMYOPATHY (OMIM:145350)
Gene: SLC6A6
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: HYPOTAURINEMIC RETINAL DEGENERATION AND CARDIOMYOPATHY (OMIM:145350)
Gene: SLC6A6
Phenotype: Mitral valve prolapse (HP:0001634)
Associated disease: HYPOTAURINEMIC RETINAL DEGENERATION AND CARDIOMYOPATHY (OMIM:145350)
Gene: SLC6A6
Phenotype: Retinal thinning (HP:0030329)
Associated disease: HYPOTAURINEMIC RETINAL DEGENERATION AND CARDIOMYOPATHY (OMIM:145350)
Gene: SLC6A6
Phenotype: Peripheral visual field loss (HP:0007994)
Associated disease: HYPOTAURINEMIC RETINAL DEGENERATION AND CARDIOMYOPATHY (OMIM:145350)
Gene: SLC6A8
Phenotype: Underfolded superior helices (HP:0008583)
Associated disease: CEREBRAL CREATINE DEFICIENCY SYNDROME 1 (OMIM:300352)
Gene: SLC6A8
Phenotype: Hypertonia (HP:0001276)
Associated disease: CEREBRAL CREATINE DEFICIENCY SYNDROME 1 (OMIM:300352)
Gene: SLC6A8
Phenotype: Hypertonia (HP:0001276)
Associated disease: SLC6A8 deficiency; Creatine transporter deficiency; X-linked creatine transporter deficiency (ORPHA:52503)
Gene: SLC6A8
Phenotype: Motor delay (HP:0001270)
Associated disease: CEREBRAL CREATINE DEFICIENCY SYNDROME 1 (OMIM:300352)
Gene: SLC6A8
Phenotype: Gait disturbance (HP:0001288)
Associated disease: CEREBRAL CREATINE DEFICIENCY SYNDROME 1 (OMIM:300352)
Gene: SLC6A8
Phenotype: Seizure (HP:0001250)
Associated disease: CEREBRAL CREATINE DEFICIENCY SYNDROME 1 (OMIM:300352)
Gene: SLC6A8
Phenotype: Seizure (HP:0001250)
Associated disease: SLC6A8 deficiency; Creatine transporter deficiency; X-linked creatine transporter deficiency (ORPHA:52503)
Gene: SLC6A8
Phenotype: Hypotonia (HP:0001252)
Associated disease: CEREBRAL CREATINE DEFICIENCY SYNDROME 1 (OMIM:300352)
Gene: SLC6A8
Phenotype: Hypotonia (HP:0001252)
Associated disease: SLC6A8 deficiency; Creatine transporter deficiency; X-linked creatine transporter deficiency (ORPHA:52503)
Gene: SLC6A8
Phenotype: Ataxia (HP:0001251)
Associated disease: SLC6A8 deficiency; Creatine transporter deficiency; X-linked creatine transporter deficiency (ORPHA:52503)
Gene: SLC6A8
Phenotype: Intellectual disability (HP:0001249)
Associated disease: CEREBRAL CREATINE DEFICIENCY SYNDROME 1 (OMIM:300352)
Gene: SLC6A8
Phenotype: Intellectual disability (HP:0001249)
Associated disease: SLC6A8 deficiency; Creatine transporter deficiency; X-linked creatine transporter deficiency (ORPHA:52503)
Gene: SLC6A8
Phenotype: Ileus (HP:0002595)
Associated disease: CEREBRAL CREATINE DEFICIENCY SYNDROME 1 (OMIM:300352)
Gene: SLC6A8
Phenotype: Ileus (HP:0002595)
Associated disease: SLC6A8 deficiency; Creatine transporter deficiency; X-linked creatine transporter deficiency (ORPHA:52503)
Gene: SLC6A8
Phenotype: Global developmental delay (HP:0001263)
Associated disease: CEREBRAL CREATINE DEFICIENCY SYNDROME 1 (OMIM:300352)
Gene: SLC6A8
Phenotype: Global developmental delay (HP:0001263)
Associated disease: SLC6A8 deficiency; Creatine transporter deficiency; X-linked creatine transporter deficiency (ORPHA:52503)
Gene: SLC6A8
Phenotype: Spasticity (HP:0001257)
Associated disease: CEREBRAL CREATINE DEFICIENCY SYNDROME 1 (OMIM:300352)
Gene: SLC6A8
Phenotype: Tall stature (HP:0000098)
Associated disease: CEREBRAL CREATINE DEFICIENCY SYNDROME 1 (OMIM:300352)
Gene: SLC6A8
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: CEREBRAL CREATINE DEFICIENCY SYNDROME 1 (OMIM:300352)
Gene: SLC6A8
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: SLC6A8 deficiency; Creatine transporter deficiency; X-linked creatine transporter deficiency (ORPHA:52503)
Gene: SLC6A8
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: CEREBRAL CREATINE DEFICIENCY SYNDROME 1 (OMIM:300352)
Gene: SLC6A8
Phenotype: Dystonia (HP:0001332)
Associated disease: CEREBRAL CREATINE DEFICIENCY SYNDROME 1 (OMIM:300352)
Gene: SLC6A8
Phenotype: Dystonia (HP:0001332)
Associated disease: SLC6A8 deficiency; Creatine transporter deficiency; X-linked creatine transporter deficiency (ORPHA:52503)
Gene: SLC6A8
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: CEREBRAL CREATINE DEFICIENCY SYNDROME 1 (OMIM:300352)
Gene: SLC6A8
Phenotype: Open mouth (HP:0000194)
Associated disease: SLC6A8 deficiency; Creatine transporter deficiency; X-linked creatine transporter deficiency (ORPHA:52503)
Gene: SLC6A8
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: CEREBRAL CREATINE DEFICIENCY SYNDROME 1 (OMIM:300352)
Gene: SLC6A8
Phenotype: Abnormal circulating creatine concentration (HP:0012113)
Associated disease: SLC6A8 deficiency; Creatine transporter deficiency; X-linked creatine transporter deficiency (ORPHA:52503)
Gene: SLC6A8
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: CEREBRAL CREATINE DEFICIENCY SYNDROME 1 (OMIM:300352)
Gene: SLC6A8
Phenotype: Constipation (HP:0002019)
Associated disease: CEREBRAL CREATINE DEFICIENCY SYNDROME 1 (OMIM:300352)
Gene: SLC6A8
Phenotype: Constipation (HP:0002019)
Associated disease: SLC6A8 deficiency; Creatine transporter deficiency; X-linked creatine transporter deficiency (ORPHA:52503)
Gene: SLC6A8
Phenotype: Vomiting (HP:0002013)
Associated disease: CEREBRAL CREATINE DEFICIENCY SYNDROME 1 (OMIM:300352)
Gene: SLC6A8
Phenotype: Midface retrusion (HP:0011800)
Associated disease: CEREBRAL CREATINE DEFICIENCY SYNDROME 1 (OMIM:300352)
Gene: SLC6A8
Phenotype: Elevated urinary creatine/creatinine ratio (HP:6000127)
Associated disease: CEREBRAL CREATINE DEFICIENCY SYNDROME 1 (OMIM:300352)
Gene: SLC6A8
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: CEREBRAL CREATINE DEFICIENCY SYNDROME 1 (OMIM:300352)
Gene: SLC6A8
Phenotype: Chorea (HP:0002072)
Associated disease: SLC6A8 deficiency; Creatine transporter deficiency; X-linked creatine transporter deficiency (ORPHA:52503)
Gene: SLC6A8
Phenotype: Myopathic facies (HP:0002058)
Associated disease: CEREBRAL CREATINE DEFICIENCY SYNDROME 1 (OMIM:300352)
Gene: SLC6A8
Phenotype: Broad-based gait (HP:0002136)
Associated disease: CEREBRAL CREATINE DEFICIENCY SYNDROME 1 (OMIM:300352)
Gene: SLC6A8
Phenotype: Infantile onset (HP:0003593)
Associated disease: CEREBRAL CREATINE DEFICIENCY SYNDROME 1 (OMIM:300352)
Gene: SLC6A8
Phenotype: Aganglionic megacolon (HP:0002251)
Associated disease: CEREBRAL CREATINE DEFICIENCY SYNDROME 1 (OMIM:300352)
Gene: SLC6A8
Phenotype: Aganglionic megacolon (HP:0002251)
Associated disease: SLC6A8 deficiency; Creatine transporter deficiency; X-linked creatine transporter deficiency (ORPHA:52503)
Gene: SLC6A8
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: CEREBRAL CREATINE DEFICIENCY SYNDROME 1 (OMIM:300352)
Gene: SLC6A8
Phenotype: Poor hand-eye coordination (HP:0007057)
Associated disease: CEREBRAL CREATINE DEFICIENCY SYNDROME 1 (OMIM:300352)
Gene: SLC6A8
Phenotype: Reduced brain creatine level by MRS (HP:0025051)
Associated disease: CEREBRAL CREATINE DEFICIENCY SYNDROME 1 (OMIM:300352)
Gene: SLC6A8
Phenotype: Athetosis (HP:0002305)
Associated disease: SLC6A8 deficiency; Creatine transporter deficiency; X-linked creatine transporter deficiency (ORPHA:52503)
Gene: SLC6A8
Phenotype: Short stature (HP:0004322)
Associated disease: CEREBRAL CREATINE DEFICIENCY SYNDROME 1 (OMIM:300352)
Gene: SLC6A8
Phenotype: Short stature (HP:0004322)
Associated disease: SLC6A8 deficiency; Creatine transporter deficiency; X-linked creatine transporter deficiency (ORPHA:52503)
Gene: SLC6A8
Phenotype: Cachexia (HP:0004326)
Associated disease: SLC6A8 deficiency; Creatine transporter deficiency; X-linked creatine transporter deficiency (ORPHA:52503)
Gene: SLC6A8
Phenotype: Hyperactivity (HP:0000752)
Associated disease: SLC6A8 deficiency; Creatine transporter deficiency; X-linked creatine transporter deficiency (ORPHA:52503)
Gene: SLC6A8
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: CEREBRAL CREATINE DEFICIENCY SYNDROME 1 (OMIM:300352)
Gene: SLC6A8
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: CEREBRAL CREATINE DEFICIENCY SYNDROME 1 (OMIM:300352)
Gene: SLC6A8
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: SLC6A8 deficiency; Creatine transporter deficiency; X-linked creatine transporter deficiency (ORPHA:52503)
Gene: SLC6A8
Phenotype: Self-mutilation (HP:0000742)
Associated disease: SLC6A8 deficiency; Creatine transporter deficiency; X-linked creatine transporter deficiency (ORPHA:52503)
Gene: SLC6A8
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: CEREBRAL CREATINE DEFICIENCY SYNDROME 1 (OMIM:300352)
Gene: SLC6A8
Phenotype: Autistic behavior (HP:0000729)
Associated disease: SLC6A8 deficiency; Creatine transporter deficiency; X-linked creatine transporter deficiency (ORPHA:52503)
Gene: SLC6A8
Phenotype: Reduced social responsiveness (HP:0012760)
Associated disease: CEREBRAL CREATINE DEFICIENCY SYNDROME 1 (OMIM:300352)
Gene: SLC6A8
Phenotype: Elevated circulating creatine concentration (HP:0034291)
Associated disease: CEREBRAL CREATINE DEFICIENCY SYNDROME 1 (OMIM:300352)
Gene: SLC6A8
Phenotype: Mask-like facies (HP:0000298)
Associated disease: SLC6A8 deficiency; Creatine transporter deficiency; X-linked creatine transporter deficiency (ORPHA:52503)
Gene: SLC6A8
Phenotype: Narrow face (HP:0000275)
Associated disease: CEREBRAL CREATINE DEFICIENCY SYNDROME 1 (OMIM:300352)
Gene: SLC6A8
Phenotype: Long face (HP:0000276)
Associated disease: CEREBRAL CREATINE DEFICIENCY SYNDROME 1 (OMIM:300352)
Gene: SLC6A8
Phenotype: Malar flattening (HP:0000272)
Associated disease: CEREBRAL CREATINE DEFICIENCY SYNDROME 1 (OMIM:300352)
Gene: SLC6A8
Phenotype: Malar flattening (HP:0000272)
Associated disease: SLC6A8 deficiency; Creatine transporter deficiency; X-linked creatine transporter deficiency (ORPHA:52503)
Gene: SLC6A8
Phenotype: Microcephaly (HP:0000252)
Associated disease: CEREBRAL CREATINE DEFICIENCY SYNDROME 1 (OMIM:300352)
Gene: SLC6A8
Phenotype: Microcephaly (HP:0000252)
Associated disease: SLC6A8 deficiency; Creatine transporter deficiency; X-linked creatine transporter deficiency (ORPHA:52503)
Gene: SLC6A8
Phenotype: Redundant skin (HP:0001582)
Associated disease: SLC6A8 deficiency; Creatine transporter deficiency; X-linked creatine transporter deficiency (ORPHA:52503)
Gene: SLC6A8
Phenotype: Failure to thrive (HP:0001508)
Associated disease: CEREBRAL CREATINE DEFICIENCY SYNDROME 1 (OMIM:300352)
Gene: SLC6A8
Phenotype: Speech apraxia (HP:0011098)
Associated disease: CEREBRAL CREATINE DEFICIENCY SYNDROME 1 (OMIM:300352)
Gene: SLC6A8
Phenotype: Broad forehead (HP:0000337)
Associated disease: CEREBRAL CREATINE DEFICIENCY SYNDROME 1 (OMIM:300352)
Gene: SLC6A8
Phenotype: Prolonged QT interval (HP:0001657)
Associated disease: CEREBRAL CREATINE DEFICIENCY SYNDROME 1 (OMIM:300352)
Gene: SLC6A8
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CEREBRAL CREATINE DEFICIENCY SYNDROME 1 (OMIM:300352)
Gene: SLC6A8
Phenotype: Delayed myelination (HP:0012448)
Associated disease: CEREBRAL CREATINE DEFICIENCY SYNDROME 1 (OMIM:300352)
Gene: SLC6A8
Phenotype: Pes cavus (HP:0001761)
Associated disease: CEREBRAL CREATINE DEFICIENCY SYNDROME 1 (OMIM:300352)
Gene: SLC6A8
Phenotype: Ptosis (HP:0000508)
Associated disease: CEREBRAL CREATINE DEFICIENCY SYNDROME 1 (OMIM:300352)
Gene: SLC6A8
Phenotype: Ptosis (HP:0000508)
Associated disease: SLC6A8 deficiency; Creatine transporter deficiency; X-linked creatine transporter deficiency (ORPHA:52503)
Gene: SLC6A8
Phenotype: Exotropia (HP:0000577)
Associated disease: CEREBRAL CREATINE DEFICIENCY SYNDROME 1 (OMIM:300352)
Gene: SLC6A8
Phenotype: Hypermetropia (HP:0000540)
Associated disease: CEREBRAL CREATINE DEFICIENCY SYNDROME 1 (OMIM:300352)
Gene: SLC6A9
Phenotype: Hand clenching (HP:0001188)
Associated disease: GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE (OMIM:617301)
Gene: SLC6A9
Phenotype: Fetal distress (HP:0025116)
Associated disease: GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE (OMIM:617301)
Gene: SLC6A9
Phenotype: Encephalopathy (HP:0001298)
Associated disease: GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE (OMIM:617301)
Gene: SLC6A9
Phenotype: Hypertonia (HP:0001276)
Associated disease: GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE (OMIM:617301)
Gene: SLC6A9
Phenotype: Global developmental delay (HP:0001263)
Associated disease: GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE (OMIM:617301)
Gene: SLC6A9
Phenotype: Flexion contracture (HP:0001371)
Associated disease: GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE (OMIM:617301)
Gene: SLC6A9
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE (OMIM:617301)
Gene: SLC6A9
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE (OMIM:617301)
Gene: SLC6A9
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE (OMIM:617301)
Gene: SLC6A9
Phenotype: Dysphagia (HP:0002015)
Associated disease: GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE (OMIM:617301)