TaoMedAI/RareMedData huggingface dataset:
Gene: DNAJC19
Phenotype: Elevated circulating glutaric acid concentration (HP:0003530)
Associated disease: 3-methylglutaconic aciduria type 5; DCMA syndrome; MGA5; Dilated cardiomyopathy with ataxia (ORPHA:66634)
Gene: DNAJC19
Phenotype: Normochromic microcytic anemia (HP:0004856)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE V (OMIM:610198)
Gene: DNAJC19
Phenotype: Normochromic microcytic anemia (HP:0004856)
Associated disease: 3-methylglutaconic aciduria type 5; DCMA syndrome; MGA5; Dilated cardiomyopathy with ataxia (ORPHA:66634)
Gene: DNAJC19
Phenotype: 3-Methylglutaconic aciduria (HP:0003535)
Associated disease: 3-methylglutaconic aciduria type 5; DCMA syndrome; MGA5; Dilated cardiomyopathy with ataxia (ORPHA:66634)
Gene: DNAJC19
Phenotype: 3-Methylglutaconic aciduria (HP:0003535)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE V (OMIM:610198)
Gene: DNAJC19
Phenotype: Hypochromic microcytic anemia (HP:0004840)
Associated disease: 3-methylglutaconic aciduria type 5; DCMA syndrome; MGA5; Dilated cardiomyopathy with ataxia (ORPHA:66634)
Gene: DNAJC19
Phenotype: Developmental regression (HP:0002376)
Associated disease: 3-methylglutaconic aciduria type 5; DCMA syndrome; MGA5; Dilated cardiomyopathy with ataxia (ORPHA:66634)
Gene: DNAJC19
Phenotype: Action tremor (HP:0002345)
Associated disease: 3-methylglutaconic aciduria type 5; DCMA syndrome; MGA5; Dilated cardiomyopathy with ataxia (ORPHA:66634)
Gene: DNAJC19
Phenotype: Dyskinesia (HP:0100660)
Associated disease: 3-methylglutaconic aciduria type 5; DCMA syndrome; MGA5; Dilated cardiomyopathy with ataxia (ORPHA:66634)
Gene: DNAJC19
Phenotype: Bilateral basal ganglia lesions (HP:0007146)
Associated disease: 3-methylglutaconic aciduria type 5; DCMA syndrome; MGA5; Dilated cardiomyopathy with ataxia (ORPHA:66634)
Gene: DNAJC19
Phenotype: Optic atrophy (HP:0000648)
Associated disease: 3-methylglutaconic aciduria type 5; DCMA syndrome; MGA5; Dilated cardiomyopathy with ataxia (ORPHA:66634)
Gene: DNAJC19
Phenotype: Optic atrophy (HP:0000648)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE V (OMIM:610198)
Gene: DNAJC19
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: 3-methylglutaconic aciduria type 5; DCMA syndrome; MGA5; Dilated cardiomyopathy with ataxia (ORPHA:66634)
Gene: DNAJC19
Phenotype: Neonatal hypoglycemia (HP:0001998)
Associated disease: 3-methylglutaconic aciduria type 5; DCMA syndrome; MGA5; Dilated cardiomyopathy with ataxia (ORPHA:66634)
Gene: DNAJC19
Phenotype: Elevated circulating aspartate aminotransferase concentration (HP:0031956)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE V (OMIM:610198)
Gene: DNAJC19
Phenotype: Elevated circulating alanine aminotransferase concentration (HP:0031964)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE V (OMIM:610198)
Gene: DNAJC19
Phenotype: Neurodevelopmental delay (HP:0012758)
Associated disease: 3-methylglutaconic aciduria type 5; DCMA syndrome; MGA5; Dilated cardiomyopathy with ataxia (ORPHA:66634)
Gene: DNAJC19
Phenotype: Diaphragmatic eventration (HP:0009110)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE V (OMIM:610198)
Gene: DNAJC19
Phenotype: Diaphragmatic eventration (HP:0009110)
Associated disease: 3-methylglutaconic aciduria type 5; DCMA syndrome; MGA5; Dilated cardiomyopathy with ataxia (ORPHA:66634)
Gene: DNAJC19
Phenotype: Noncompaction cardiomyopathy (HP:0012817)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE V (OMIM:610198)
Gene: DNAJC19
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: 3-methylglutaconic aciduria type 5; DCMA syndrome; MGA5; Dilated cardiomyopathy with ataxia (ORPHA:66634)
Gene: DNAJC19
Phenotype: Muscular ventricular septal defect (HP:0011623)
Associated disease: 3-methylglutaconic aciduria type 5; DCMA syndrome; MGA5; Dilated cardiomyopathy with ataxia (ORPHA:66634)
Gene: DNAJC19
Phenotype: Failure to thrive (HP:0001508)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE V (OMIM:610198)
Gene: DNAJC19
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: 3-methylglutaconic aciduria type 5; DCMA syndrome; MGA5; Dilated cardiomyopathy with ataxia (ORPHA:66634)
Gene: DNAJC19
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE V (OMIM:610198)
Gene: DNAJC19
Phenotype: Growth delay (HP:0001510)
Associated disease: 3-methylglutaconic aciduria type 5; DCMA syndrome; MGA5; Dilated cardiomyopathy with ataxia (ORPHA:66634)
Gene: DNAJC19
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: 3-methylglutaconic aciduria type 5; DCMA syndrome; MGA5; Dilated cardiomyopathy with ataxia (ORPHA:66634)
Gene: DNAJC19
Phenotype: Sudden cardiac death (HP:0001645)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE V (OMIM:610198)
Gene: DNAJC19
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE V (OMIM:610198)
Gene: DNAJC19
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: 3-methylglutaconic aciduria type 5; DCMA syndrome; MGA5; Dilated cardiomyopathy with ataxia (ORPHA:66634)
Gene: DNAJC19
Phenotype: Prolonged QT interval (HP:0001657)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE V (OMIM:610198)
Gene: DNAJC19
Phenotype: Prolonged QT interval (HP:0001657)
Associated disease: 3-methylglutaconic aciduria type 5; DCMA syndrome; MGA5; Dilated cardiomyopathy with ataxia (ORPHA:66634)
Gene: DNAJC19
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE V (OMIM:610198)
Gene: DNAJC19
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE V (OMIM:610198)
Gene: KLHL40
Phenotype: Adducted thumb (HP:0001181)
Associated disease: Severe congenital nemaline myopathy (ORPHA:171430)
Gene: KLHL40
Phenotype: Nemaline bodies (HP:0003798)
Associated disease: Severe congenital nemaline myopathy (ORPHA:171430)
Gene: KLHL40
Phenotype: Nemaline bodies (HP:0003798)
Associated disease: NEMALINE MYOPATHY 8 (OMIM:615348)
Gene: KLHL40
Phenotype: Myofibrillar myopathy (HP:0003715)
Associated disease: NEMALINE MYOPATHY 8 (OMIM:615348)
Gene: KLHL40
Phenotype: Motor delay (HP:0001270)
Associated disease: Severe congenital nemaline myopathy (ORPHA:171430)
Gene: KLHL40
Phenotype: Type 1 muscle fiber predominance (HP:0003803)
Associated disease: Severe congenital nemaline myopathy (ORPHA:171430)
Gene: KLHL40
Phenotype: Flexion contracture (HP:0001371)
Associated disease: Severe congenital nemaline myopathy (ORPHA:171430)
Gene: KLHL40
Phenotype: Flexion contracture (HP:0001371)
Associated disease: NEMALINE MYOPATHY 8 (OMIM:615348)
Gene: KLHL40
Phenotype: Micropenis (HP:0000054)
Associated disease: Severe congenital nemaline myopathy (ORPHA:171430)
Gene: KLHL40
Phenotype: Hypospadias (HP:0000047)
Associated disease: Severe congenital nemaline myopathy (ORPHA:171430)
Gene: KLHL40
Phenotype: Facial diplegia (HP:0001349)
Associated disease: Severe congenital nemaline myopathy (ORPHA:171430)
Gene: KLHL40
Phenotype: Edema of the dorsum of hands (HP:0007514)
Associated disease: Severe congenital nemaline myopathy (ORPHA:171430)
Gene: KLHL40
Phenotype: Muscle weakness (HP:0001324)
Associated disease: NEMALINE MYOPATHY 8 (OMIM:615348)
Gene: KLHL40
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEMALINE MYOPATHY 8 (OMIM:615348)
Gene: KLHL40
Phenotype: Axial muscle weakness (HP:0003327)
Associated disease: Severe congenital nemaline myopathy (ORPHA:171430)
Gene: KLHL40
Phenotype: Dysphagia (HP:0002015)
Associated disease: Severe congenital nemaline myopathy (ORPHA:171430)
Gene: KLHL40
Phenotype: Dysphagia (HP:0002015)
Associated disease: NEMALINE MYOPATHY 8 (OMIM:615348)
Gene: KLHL40
Phenotype: Pulmonary hypoplasia (HP:0002089)
Associated disease: Severe congenital nemaline myopathy (ORPHA:171430)
Gene: KLHL40
Phenotype: Facial palsy (HP:0010628)
Associated disease: Severe congenital nemaline myopathy (ORPHA:171430)
Gene: KLHL40
Phenotype: Facial palsy (HP:0010628)
Associated disease: NEMALINE MYOPATHY 8 (OMIM:615348)
Gene: KLHL40
Phenotype: Hypokinesia (HP:0002375)
Associated disease: Severe congenital nemaline myopathy (ORPHA:171430)
Gene: KLHL40
Phenotype: Severe muscular hypotonia (HP:0006829)
Associated disease: Severe congenital nemaline myopathy (ORPHA:171430)
Gene: KLHL40
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: Severe congenital nemaline myopathy (ORPHA:171430)
Gene: KLHL40
Phenotype: Increased connective tissue (HP:0009025)
Associated disease: Severe congenital nemaline myopathy (ORPHA:171430)
Gene: KLHL40
Phenotype: Fetal akinesia sequence (HP:0001989)
Associated disease: NEMALINE MYOPATHY 8 (OMIM:615348)
Gene: KLHL40
Phenotype: Abnormal thorax morphology (HP:0000765)
Associated disease: Severe congenital nemaline myopathy (ORPHA:171430)
Gene: KLHL40
Phenotype: Gastrostomy tube feeding in infancy (HP:0011471)
Associated disease: NEMALINE MYOPATHY 8 (OMIM:615348)
Gene: KLHL40
Phenotype: Abnormality of the diaphragm (HP:0000775)
Associated disease: Severe congenital nemaline myopathy (ORPHA:171430)
Gene: KLHL40
Phenotype: Thin ribs (HP:0000883)
Associated disease: Severe congenital nemaline myopathy (ORPHA:171430)
Gene: KLHL40
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: Severe congenital nemaline myopathy (ORPHA:171430)
Gene: KLHL40
Phenotype: Multiple prenatal fractures (HP:0005855)
Associated disease: Severe congenital nemaline myopathy (ORPHA:171430)
Gene: KLHL40
Phenotype: Arthrogryposis multiplex congenita (HP:0002804)
Associated disease: Severe congenital nemaline myopathy (ORPHA:171430)
Gene: KLHL40
Phenotype: Large fontanelles (HP:0000239)
Associated disease: Severe congenital nemaline myopathy (ORPHA:171430)
Gene: KLHL40
Phenotype: Respiratory failure (HP:0002878)
Associated disease: Severe congenital nemaline myopathy (ORPHA:171430)
Gene: KLHL40
Phenotype: Respiratory failure (HP:0002878)
Associated disease: NEMALINE MYOPATHY 8 (OMIM:615348)
Gene: KLHL40
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: Severe congenital nemaline myopathy (ORPHA:171430)
Gene: KLHL40
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: NEMALINE MYOPATHY 8 (OMIM:615348)
Gene: KLHL40
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: Severe congenital nemaline myopathy (ORPHA:171430)
Gene: KLHL40
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: NEMALINE MYOPATHY 8 (OMIM:615348)
Gene: KLHL40
Phenotype: Death in infancy (HP:0001522)
Associated disease: NEMALINE MYOPATHY 8 (OMIM:615348)
Gene: KLHL40
Phenotype: Low-set ears (HP:0000369)
Associated disease: Severe congenital nemaline myopathy (ORPHA:171430)
Gene: KLHL40
Phenotype: Breech presentation (HP:0001623)
Associated disease: Severe congenital nemaline myopathy (ORPHA:171430)
Gene: KLHL40
Phenotype: Premature birth (HP:0001622)
Associated disease: Severe congenital nemaline myopathy (ORPHA:171430)
Gene: KLHL40
Phenotype: Ophthalmoparesis (HP:0000597)
Associated disease: NEMALINE MYOPATHY 8 (OMIM:615348)
Gene: TRIM71
Phenotype: Seizure (HP:0001250)
Associated disease: HYDROCEPHALUS, CONGENITAL COMMUNICATING, 1 (OMIM:618667)
Gene: TRIM71
Phenotype: Communicating hydrocephalus (HP:0001334)
Associated disease: HYDROCEPHALUS, CONGENITAL COMMUNICATING, 1 (OMIM:618667)
Gene: TRIM71
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: HYDROCEPHALUS, CONGENITAL COMMUNICATING, 1 (OMIM:618667)
Gene: TRIM71
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: HYDROCEPHALUS, CONGENITAL COMMUNICATING, 1 (OMIM:618667)
Gene: TRIM71
Phenotype: Neurodevelopmental delay (HP:0012758)
Associated disease: HYDROCEPHALUS, CONGENITAL COMMUNICATING, 1 (OMIM:618667)
Gene: UROC1
Phenotype: Abnormal circulating histidine concentration (HP:0010904)
Associated disease: Urocanic aciduria; Encephalopathy due to urocanase deficiency (ORPHA:210128)
Gene: UROC1
Phenotype: Ataxia (HP:0001251)
Associated disease: UROCANASE DEFICIENCY (OMIM:276880)
Gene: UROC1
Phenotype: Ataxia (HP:0001251)
Associated disease: Urocanic aciduria; Encephalopathy due to urocanase deficiency (ORPHA:210128)
Gene: UROC1
Phenotype: Dysarthria (HP:0001260)
Associated disease: Urocanic aciduria; Encephalopathy due to urocanase deficiency (ORPHA:210128)
Gene: UROC1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: UROCANASE DEFICIENCY (OMIM:276880)
Gene: UROC1
Phenotype: Dysmetria (HP:0001310)
Associated disease: UROCANASE DEFICIENCY (OMIM:276880)
Gene: UROC1
Phenotype: Recurrent infections (HP:0002719)
Associated disease: Urocanic aciduria; Encephalopathy due to urocanase deficiency (ORPHA:210128)
Gene: UROC1
Phenotype: Gait ataxia (HP:0002066)
Associated disease: UROCANASE DEFICIENCY (OMIM:276880)
Gene: UROC1
Phenotype: Gait ataxia (HP:0002066)
Associated disease: Urocanic aciduria; Encephalopathy due to urocanase deficiency (ORPHA:210128)
Gene: UROC1
Phenotype: Truncal ataxia (HP:0002078)
Associated disease: UROCANASE DEFICIENCY (OMIM:276880)
Gene: UROC1
Phenotype: Truncal ataxia (HP:0002078)
Associated disease: Urocanic aciduria; Encephalopathy due to urocanase deficiency (ORPHA:210128)
Gene: UROC1
Phenotype: Broad-based gait (HP:0002136)
Associated disease: UROCANASE DEFICIENCY (OMIM:276880)
Gene: UROC1
Phenotype: Broad-based gait (HP:0002136)
Associated disease: Urocanic aciduria; Encephalopathy due to urocanase deficiency (ORPHA:210128)
Gene: UROC1
Phenotype: Action tremor (HP:0002345)
Associated disease: UROCANASE DEFICIENCY (OMIM:276880)
Gene: UROC1
Phenotype: Action tremor (HP:0002345)
Associated disease: Urocanic aciduria; Encephalopathy due to urocanase deficiency (ORPHA:210128)
Gene: UROC1
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: UROCANASE DEFICIENCY (OMIM:276880)
Gene: UROC1
Phenotype: Hyperactive deep tendon reflexes (HP:0006801)
Associated disease: Urocanic aciduria; Encephalopathy due to urocanase deficiency (ORPHA:210128)
Gene: UROC1
Phenotype: Nystagmus (HP:0000639)
Associated disease: UROCANASE DEFICIENCY (OMIM:276880)
Gene: UROC1
Phenotype: Short stature (HP:0004322)
Associated disease: UROCANASE DEFICIENCY (OMIM:276880)
Gene: UROC1
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: UROCANASE DEFICIENCY (OMIM:276880)
Gene: UROC1
Phenotype: Childhood onset (HP:0011463)
Associated disease: UROCANASE DEFICIENCY (OMIM:276880)
Gene: UROC1
Phenotype: Urocanic aciduria (HP:0012237)
Associated disease: UROCANASE DEFICIENCY (OMIM:276880)
Gene: UROC1
Phenotype: Urocanic aciduria (HP:0012237)
Associated disease: Urocanic aciduria; Encephalopathy due to urocanase deficiency (ORPHA:210128)
Gene: UROC1
Phenotype: Gaze-evoked horizontal nystagmus (HP:0007979)
Associated disease: Urocanic aciduria; Encephalopathy due to urocanase deficiency (ORPHA:210128)
Gene: TAMM41
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 56 (OMIM:620139)
Gene: TAMM41
Phenotype: Areflexia (HP:0001284)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 56 (OMIM:620139)
Gene: TAMM41
Phenotype: Lethargy (HP:0001254)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 56 (OMIM:620139)
Gene: TAMM41
Phenotype: Hypotonia (HP:0001252)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 56 (OMIM:620139)
Gene: TAMM41
Phenotype: Global developmental delay (HP:0001263)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 56 (OMIM:620139)
Gene: TAMM41
Phenotype: Type 1 muscle fiber predominance (HP:0003803)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 56 (OMIM:620139)
Gene: TAMM41
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 56 (OMIM:620139)
Gene: TAMM41
Phenotype: Methylmalonic aciduria (HP:0012120)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 56 (OMIM:620139)
Gene: TAMM41
Phenotype: Dysphagia (HP:0002015)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 56 (OMIM:620139)
Gene: TAMM41
Phenotype: Decreased activity of mitochondrial complex III (HP:0011924)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 56 (OMIM:620139)
Gene: TAMM41
Phenotype: Decreased activity of mitochondrial complex I (HP:0011923)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 56 (OMIM:620139)
Gene: TAMM41
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 56 (OMIM:620139)
Gene: TAMM41
Phenotype: Congenital onset (HP:0003577)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 56 (OMIM:620139)
Gene: TAMM41
Phenotype: Increased variability in muscle fiber diameter (HP:0003557)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 56 (OMIM:620139)
Gene: TAMM41
Phenotype: Decreased activity of mitochondrial complex IV (HP:0008347)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 56 (OMIM:620139)
Gene: TAMM41
Phenotype: Lacticaciduria (HP:0003648)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 56 (OMIM:620139)
Gene: TAMM41
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 56 (OMIM:620139)
Gene: TAMM41
Phenotype: Respiratory failure (HP:0002878)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 56 (OMIM:620139)
Gene: TAMM41
Phenotype: Failure to thrive (HP:0001508)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 56 (OMIM:620139)
Gene: TAMM41
Phenotype: Ketonuria (HP:0002919)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 56 (OMIM:620139)
Gene: TAMM41
Phenotype: Ptosis (HP:0000508)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 56 (OMIM:620139)
Gene: TAMM41
Phenotype: Progressive external ophthalmoplegia (HP:0000590)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 56 (OMIM:620139)
Gene: GLYCTK
Phenotype: Progressive encephalopathy (HP:0002448)
Associated disease: D-glyceric acidemia; D-glycerate kinase deficiency; D-glyceric aciduria (ORPHA:941)
Gene: GLYCTK
Phenotype: Encephalopathy (HP:0001298)
Associated disease: D-GLYCERIC ACIDURIA (OMIM:220120)
Gene: GLYCTK
Phenotype: Seizure (HP:0001250)
Associated disease: D-glyceric acidemia; D-glycerate kinase deficiency; D-glyceric aciduria (ORPHA:941)
Gene: GLYCTK
Phenotype: Seizure (HP:0001250)
Associated disease: D-GLYCERIC ACIDURIA (OMIM:220120)
Gene: GLYCTK
Phenotype: Hypotonia (HP:0001252)
Associated disease: D-GLYCERIC ACIDURIA (OMIM:220120)
Gene: GLYCTK
Phenotype: Intellectual disability (HP:0001249)
Associated disease: D-glyceric acidemia; D-glycerate kinase deficiency; D-glyceric aciduria (ORPHA:941)
Gene: GLYCTK
Phenotype: Intellectual disability (HP:0001249)
Associated disease: D-GLYCERIC ACIDURIA (OMIM:220120)
Gene: GLYCTK
Phenotype: Global developmental delay (HP:0001263)
Associated disease: D-glyceric acidemia; D-glycerate kinase deficiency; D-glyceric aciduria (ORPHA:941)
Gene: GLYCTK
Phenotype: Global developmental delay (HP:0001263)
Associated disease: D-GLYCERIC ACIDURIA (OMIM:220120)
Gene: GLYCTK
Phenotype: Spasticity (HP:0001257)
Associated disease: D-glyceric acidemia; D-glycerate kinase deficiency; D-glyceric aciduria (ORPHA:941)
Gene: GLYCTK
Phenotype: Spasticity (HP:0001257)
Associated disease: D-GLYCERIC ACIDURIA (OMIM:220120)
Gene: GLYCTK
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease: D-GLYCERIC ACIDURIA (OMIM:220120)
Gene: GLYCTK
Phenotype: Spastic tetraplegia (HP:0002510)
Associated disease: D-GLYCERIC ACIDURIA (OMIM:220120)
Gene: GLYCTK
Phenotype: Increased CSF glycine concentration (HP:0500230)
Associated disease: D-glyceric acidemia; D-glycerate kinase deficiency; D-glyceric aciduria (ORPHA:941)
Gene: GLYCTK
Phenotype: Micropenis (HP:0000054)
Associated disease: D-GLYCERIC ACIDURIA (OMIM:220120)
Gene: GLYCTK
Phenotype: Brisk reflexes (HP:0001348)
Associated disease: D-GLYCERIC ACIDURIA (OMIM:220120)
Gene: GLYCTK
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: D-GLYCERIC ACIDURIA (OMIM:220120)
Gene: GLYCTK
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: D-GLYCERIC ACIDURIA (OMIM:220120)
Gene: GLYCTK
Phenotype: Myoclonus (HP:0001336)
Associated disease: D-glyceric acidemia; D-glycerate kinase deficiency; D-glyceric aciduria (ORPHA:941)
Gene: GLYCTK
Phenotype: Myoclonus (HP:0001336)
Associated disease: D-GLYCERIC ACIDURIA (OMIM:220120)
Gene: GLYCTK
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: D-GLYCERIC ACIDURIA (OMIM:220120)
Gene: GLYCTK
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: D-GLYCERIC ACIDURIA (OMIM:220120)
Gene: GLYCTK
Phenotype: Floppy infant (HP:0008947)
Associated disease: D-glyceric acidemia; D-glycerate kinase deficiency; D-glyceric aciduria (ORPHA:941)
Gene: GLYCTK
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: D-GLYCERIC ACIDURIA (OMIM:220120)
Gene: GLYCTK
Phenotype: Aminoaciduria (HP:0003355)
Associated disease: D-GLYCERIC ACIDURIA (OMIM:220120)
Gene: GLYCTK
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: D-GLYCERIC ACIDURIA (OMIM:220120)
Gene: GLYCTK
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: D-GLYCERIC ACIDURIA (OMIM:220120)
Gene: GLYCTK
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: D-glyceric acidemia; D-glycerate kinase deficiency; D-glyceric aciduria (ORPHA:941)
Gene: GLYCTK
Phenotype: Chorea (HP:0002072)
Associated disease: D-glyceric acidemia; D-glycerate kinase deficiency; D-glyceric aciduria (ORPHA:941)
Gene: GLYCTK
Phenotype: Hyperglycinemia (HP:0002154)
Associated disease: D-glyceric acidemia; D-glycerate kinase deficiency; D-glyceric aciduria (ORPHA:941)
Gene: GLYCTK
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: D-GLYCERIC ACIDURIA (OMIM:220120)
Gene: GLYCTK
Phenotype: Status epilepticus (HP:0002133)
Associated disease: D-GLYCERIC ACIDURIA (OMIM:220120)
Gene: GLYCTK
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: D-GLYCERIC ACIDURIA (OMIM:220120)
Gene: GLYCTK
Phenotype: Opisthotonus (HP:0002179)
Associated disease: D-GLYCERIC ACIDURIA (OMIM:220120)
Gene: GLYCTK
Phenotype: Nonketotic hyperglycinemia (HP:0008288)
Associated disease: D-glyceric acidemia; D-glycerate kinase deficiency; D-glyceric aciduria (ORPHA:941)
Gene: GLYCTK
Phenotype: Nonketotic hyperglycinemia (HP:0008288)
Associated disease: D-GLYCERIC ACIDURIA (OMIM:220120)
Gene: GLYCTK
Phenotype: Focal clonic seizure (HP:0002266)
Associated disease: D-GLYCERIC ACIDURIA (OMIM:220120)
Gene: GLYCTK
Phenotype: Infantile onset (HP:0003593)
Associated disease: D-GLYCERIC ACIDURIA (OMIM:220120)
Gene: GLYCTK
Phenotype: Tongue thrusting (HP:0100703)
Associated disease: D-GLYCERIC ACIDURIA (OMIM:220120)
Gene: GLYCTK
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: D-glyceric acidemia; D-glycerate kinase deficiency; D-glyceric aciduria (ORPHA:941)
Gene: GLYCTK
Phenotype: Elevated circulating D-glyceric acid concentration (HP:6000371)
Associated disease: D-GLYCERIC ACIDURIA (OMIM:220120)
Gene: GLYCTK
Phenotype: Elevated CSF D-glyceric acid concentration (HP:6000372)
Associated disease: D-GLYCERIC ACIDURIA (OMIM:220120)
Gene: GLYCTK
Phenotype: Neonatal onset (HP:0003623)
Associated disease: D-GLYCERIC ACIDURIA (OMIM:220120)
Gene: GLYCTK
Phenotype: Reduced hepatic D-glycerate kinase activity (HP:0034706)
Associated disease: D-GLYCERIC ACIDURIA (OMIM:220120)
Gene: GLYCTK
Phenotype: Loss of consciousness (HP:0007185)
Associated disease: D-glyceric acidemia; D-glycerate kinase deficiency; D-glyceric aciduria (ORPHA:941)
Gene: GLYCTK
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: D-GLYCERIC ACIDURIA (OMIM:220120)
Gene: GLYCTK
Phenotype: Metabolic acidosis (HP:0001942)
Associated disease: D-glyceric acidemia; D-glycerate kinase deficiency; D-glyceric aciduria (ORPHA:941)
Gene: GLYCTK
Phenotype: Metabolic acidosis (HP:0001942)
Associated disease: D-GLYCERIC ACIDURIA (OMIM:220120)
Gene: GLYCTK
Phenotype: Optic nerve hypoplasia (HP:0000609)
Associated disease: D-GLYCERIC ACIDURIA (OMIM:220120)