TaoMedAI/RareMedData huggingface dataset:
Gene: GLRB
Phenotype: Joint dislocation (HP:0001373)
Associated disease: Congenital stiff man syndrome; Kok disease; Stiff baby syndrome; Familial startle disease; Hereditary hyperekplexia; Hereditary hyperexplexia (ORPHA:3197)
Gene: GLRB
Phenotype: Joint stiffness (HP:0001387)
Associated disease: Congenital stiff man syndrome; Kok disease; Stiff baby syndrome; Familial startle disease; Hereditary hyperekplexia; Hereditary hyperexplexia (ORPHA:3197)
Gene: GLRB
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Congenital stiff man syndrome; Kok disease; Stiff baby syndrome; Familial startle disease; Hereditary hyperekplexia; Hereditary hyperexplexia (ORPHA:3197)
Gene: GLRB
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: HYPEREKPLEXIA 2 (OMIM:614619)
Gene: GLRB
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HYPEREKPLEXIA 2 (OMIM:614619)
Gene: GLRB
Phenotype: Myoclonus (HP:0001336)
Associated disease: HYPEREKPLEXIA 2 (OMIM:614619)
Gene: GLRB
Phenotype: Myoclonus (HP:0001336)
Associated disease: Congenital stiff man syndrome; Kok disease; Stiff baby syndrome; Familial startle disease; Hereditary hyperekplexia; Hereditary hyperexplexia (ORPHA:3197)
Gene: GLRB
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Congenital stiff man syndrome; Kok disease; Stiff baby syndrome; Familial startle disease; Hereditary hyperekplexia; Hereditary hyperexplexia (ORPHA:3197)
Gene: GLRB
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: HYPEREKPLEXIA 2 (OMIM:614619)
Gene: GLRB
Phenotype: Hiatus hernia (HP:0002036)
Associated disease: Congenital stiff man syndrome; Kok disease; Stiff baby syndrome; Familial startle disease; Hereditary hyperekplexia; Hereditary hyperexplexia (ORPHA:3197)
Gene: GLRB
Phenotype: Hiatus hernia (HP:0002036)
Associated disease: HYPEREKPLEXIA 2 (OMIM:614619)
Gene: GLRB
Phenotype: Glabellar reflex (HP:0030904)
Associated disease: HYPEREKPLEXIA 2 (OMIM:614619)
Gene: GLRB
Phenotype: Rigidity (HP:0002063)
Associated disease: Congenital stiff man syndrome; Kok disease; Stiff baby syndrome; Familial startle disease; Hereditary hyperekplexia; Hereditary hyperexplexia (ORPHA:3197)
Gene: GLRB
Phenotype: Increased fetal movement (HP:0010519)
Associated disease: HYPEREKPLEXIA 2 (OMIM:614619)
Gene: GLRB
Phenotype: Exaggerated startle response (HP:0002267)
Associated disease: HYPEREKPLEXIA 2 (OMIM:614619)
Gene: GLRB
Phenotype: Congenital onset (HP:0003577)
Associated disease: HYPEREKPLEXIA 2 (OMIM:614619)
Gene: GLRB
Phenotype: Muscle stiffness (HP:0003552)
Associated disease: Congenital stiff man syndrome; Kok disease; Stiff baby syndrome; Familial startle disease; Hereditary hyperekplexia; Hereditary hyperexplexia (ORPHA:3197)
Gene: GLRB
Phenotype: Muscle stiffness (HP:0003552)
Associated disease: HYPEREKPLEXIA 2 (OMIM:614619)
Gene: GLRB
Phenotype: Hernia (HP:0100790)
Associated disease: Congenital stiff man syndrome; Kok disease; Stiff baby syndrome; Familial startle disease; Hereditary hyperekplexia; Hereditary hyperexplexia (ORPHA:3197)
Gene: GLRB
Phenotype: Fasciculations (HP:0002380)
Associated disease: Congenital stiff man syndrome; Kok disease; Stiff baby syndrome; Familial startle disease; Hereditary hyperekplexia; Hereditary hyperexplexia (ORPHA:3197)
Gene: GLRB
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: Congenital stiff man syndrome; Kok disease; Stiff baby syndrome; Familial startle disease; Hereditary hyperekplexia; Hereditary hyperexplexia (ORPHA:3197)
Gene: GLRB
Phenotype: Esophagitis (HP:0100633)
Associated disease: Congenital stiff man syndrome; Kok disease; Stiff baby syndrome; Familial startle disease; Hereditary hyperekplexia; Hereditary hyperexplexia (ORPHA:3197)
Gene: GLRB
Phenotype: Neonatal onset (HP:0003623)
Associated disease: HYPEREKPLEXIA 2 (OMIM:614619)
Gene: GLRB
Phenotype: Abnormality of movement (HP:0100022)
Associated disease: Congenital stiff man syndrome; Kok disease; Stiff baby syndrome; Familial startle disease; Hereditary hyperekplexia; Hereditary hyperexplexia (ORPHA:3197)
Gene: GLRB
Phenotype: Hip dislocation (HP:0002827)
Associated disease: Congenital stiff man syndrome; Kok disease; Stiff baby syndrome; Familial startle disease; Hereditary hyperekplexia; Hereditary hyperexplexia (ORPHA:3197)
Gene: GLRB
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: Congenital stiff man syndrome; Kok disease; Stiff baby syndrome; Familial startle disease; Hereditary hyperekplexia; Hereditary hyperexplexia (ORPHA:3197)
Gene: GLRB
Phenotype: Astigmatism (HP:0000483)
Associated disease: HYPEREKPLEXIA 2 (OMIM:614619)
Gene: GLRB
Phenotype: Esotropia (HP:0000565)
Associated disease: HYPEREKPLEXIA 2 (OMIM:614619)
Gene: GLRB
Phenotype: Myopia (HP:0000545)
Associated disease: HYPEREKPLEXIA 2 (OMIM:614619)
Gene: GLS
Phenotype: CNS demyelination (HP:0007305)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 71 (OMIM:618328)
Gene: GLS
Phenotype: EEG with burst suppression (HP:0010851)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 71 (OMIM:618328)
Gene: GLS
Phenotype: Simplified gyral pattern (HP:0009879)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 71 (OMIM:618328)
Gene: GLS
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: GLOBAL DEVELOPMENTAL DELAY, PROGRESSIVE ATAXIA, AND ELEVATED GLUTAMINE (OMIM:618412)
Gene: GLS
Phenotype: Seizure (HP:0001250)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 71 (OMIM:618328)
Gene: GLS
Phenotype: Hypotonia (HP:0001252)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 71 (OMIM:618328)
Gene: GLS
Phenotype: Global developmental delay (HP:0001263)
Associated disease: INFANTILE CATARACT, SKIN ABNORMALITIES, GLUTAMATE EXCESS, AND IMPAIRED INTELLECTUAL DEVELOPMENT (OMIM:618339)
Gene: GLS
Phenotype: Global developmental delay (HP:0001263)
Associated disease: GLOBAL DEVELOPMENTAL DELAY, PROGRESSIVE ATAXIA, AND ELEVATED GLUTAMINE (OMIM:618412)
Gene: GLS
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 71 (OMIM:618328)
Gene: GLS
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: GLOBAL DEVELOPMENTAL DELAY, PROGRESSIVE ATAXIA, AND ELEVATED GLUTAMINE (OMIM:618412)
Gene: GLS
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: INFANTILE CATARACT, SKIN ABNORMALITIES, GLUTAMATE EXCESS, AND IMPAIRED INTELLECTUAL DEVELOPMENT (OMIM:618339)
Gene: GLS
Phenotype: Cheyne-Stokes respiration (HP:0012196)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 71 (OMIM:618328)
Gene: GLS
Phenotype: Subcutaneous nodule (HP:0001482)
Associated disease: INFANTILE CATARACT, SKIN ABNORMALITIES, GLUTAMATE EXCESS, AND IMPAIRED INTELLECTUAL DEVELOPMENT (OMIM:618339)
Gene: GLS
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: INFANTILE CATARACT, SKIN ABNORMALITIES, GLUTAMATE EXCESS, AND IMPAIRED INTELLECTUAL DEVELOPMENT (OMIM:618339)
Gene: GLS
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: INFANTILE CATARACT, SKIN ABNORMALITIES, GLUTAMATE EXCESS, AND IMPAIRED INTELLECTUAL DEVELOPMENT (OMIM:618339)
Gene: GLS
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 71 (OMIM:618328)
Gene: GLS
Phenotype: Progressive cerebellar ataxia (HP:0002073)
Associated disease: GLOBAL DEVELOPMENTAL DELAY, PROGRESSIVE ATAXIA, AND ELEVATED GLUTAMINE (OMIM:618412)
Gene: GLS
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: INFANTILE CATARACT, SKIN ABNORMALITIES, GLUTAMATE EXCESS, AND IMPAIRED INTELLECTUAL DEVELOPMENT (OMIM:618339)
Gene: GLS
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: GLOBAL DEVELOPMENTAL DELAY, PROGRESSIVE ATAXIA, AND ELEVATED GLUTAMINE (OMIM:618412)
Gene: GLS
Phenotype: Gliosis (HP:0002171)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 71 (OMIM:618328)
Gene: GLS
Phenotype: Infantile onset (HP:0003593)
Associated disease: INFANTILE CATARACT, SKIN ABNORMALITIES, GLUTAMATE EXCESS, AND IMPAIRED INTELLECTUAL DEVELOPMENT (OMIM:618339)
Gene: GLS
Phenotype: Congenital onset (HP:0003577)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 71 (OMIM:618328)
Gene: GLS
Phenotype: Self-injurious behavior (HP:0100716)
Associated disease: INFANTILE CATARACT, SKIN ABNORMALITIES, GLUTAMATE EXCESS, AND IMPAIRED INTELLECTUAL DEVELOPMENT (OMIM:618339)
Gene: GLS
Phenotype: Epileptic encephalopathy (HP:0200134)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 71 (OMIM:618328)
Gene: GLS
Phenotype: Parakeratosis (HP:0001036)
Associated disease: INFANTILE CATARACT, SKIN ABNORMALITIES, GLUTAMATE EXCESS, AND IMPAIRED INTELLECTUAL DEVELOPMENT (OMIM:618339)
Gene: GLS
Phenotype: Febrile seizure (within the age range of 3 months to 6 years) (HP:0002373)
Associated disease: GLOBAL DEVELOPMENTAL DELAY, PROGRESSIVE ATAXIA, AND ELEVATED GLUTAMINE (OMIM:618412)
Gene: GLS
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: GLOBAL DEVELOPMENTAL DELAY, PROGRESSIVE ATAXIA, AND ELEVATED GLUTAMINE (OMIM:618412)
Gene: GLS
Phenotype: Agitation (HP:0000713)
Associated disease: INFANTILE CATARACT, SKIN ABNORMALITIES, GLUTAMATE EXCESS, AND IMPAIRED INTELLECTUAL DEVELOPMENT (OMIM:618339)
Gene: GLS
Phenotype: Childhood onset (HP:0011463)
Associated disease: GLOBAL DEVELOPMENTAL DELAY, PROGRESSIVE ATAXIA, AND ELEVATED GLUTAMINE (OMIM:618412)
Gene: GLS
Phenotype: Reduced eye contact (HP:0000817)
Associated disease: INFANTILE CATARACT, SKIN ABNORMALITIES, GLUTAMATE EXCESS, AND IMPAIRED INTELLECTUAL DEVELOPMENT (OMIM:618339)
Gene: GLS
Phenotype: Hyperglutaminemia (HP:0003217)
Associated disease: GLOBAL DEVELOPMENTAL DELAY, PROGRESSIVE ATAXIA, AND ELEVATED GLUTAMINE (OMIM:618412)
Gene: GLS
Phenotype: Hyperkeratosis (HP:0000962)
Associated disease: INFANTILE CATARACT, SKIN ABNORMALITIES, GLUTAMATE EXCESS, AND IMPAIRED INTELLECTUAL DEVELOPMENT (OMIM:618339)
Gene: GLS
Phenotype: Respiratory failure (HP:0002878)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 71 (OMIM:618328)
Gene: GLS
Phenotype: Secondary microcephaly (HP:0005484)
Associated disease: INFANTILE CATARACT, SKIN ABNORMALITIES, GLUTAMATE EXCESS, AND IMPAIRED INTELLECTUAL DEVELOPMENT (OMIM:618339)
Gene: GLUD1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 6 (OMIM:606762)
Gene: GLUD1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Hyperinsulinism-hyperammonemia syndrome; HI/HA syndrome (ORPHA:35878)
Gene: GLUD1
Phenotype: Reactive hypoglycemia (HP:0012051)
Associated disease: Hyperinsulinism-hyperammonemia syndrome; HI/HA syndrome (ORPHA:35878)
Gene: GLUD1
Phenotype: Specific learning disability (HP:0001328)
Associated disease: Hyperinsulinism-hyperammonemia syndrome; HI/HA syndrome (ORPHA:35878)
Gene: GLUD1
Phenotype: Hypoglycemic coma (HP:0001325)
Associated disease: HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 6 (OMIM:606762)
Gene: GLUD1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 6 (OMIM:606762)
Gene: GLUD1
Phenotype: Asymptomatic hyperammonemia (HP:0008162)
Associated disease: Hyperinsulinism-hyperammonemia syndrome; HI/HA syndrome (ORPHA:35878)
Gene: GLUD1
Phenotype: Asymptomatic hyperammonemia (HP:0008162)
Associated disease: HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 6 (OMIM:606762)
Gene: GLUD1
Phenotype: Generalized non-motor (absence) seizure (HP:0002121)
Associated disease: Hyperinsulinism-hyperammonemia syndrome; HI/HA syndrome (ORPHA:35878)
Gene: GLUD1
Phenotype: Generalized-onset seizure (HP:0002197)
Associated disease: Hyperinsulinism-hyperammonemia syndrome; HI/HA syndrome (ORPHA:35878)
Gene: GLUD1
Phenotype: Hypoglycemic seizures (HP:0002173)
Associated disease: HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 6 (OMIM:606762)
Gene: GLUD1
Phenotype: Fasting hyperinsulinemia (HP:0008283)
Associated disease: Hyperinsulinism-hyperammonemia syndrome; HI/HA syndrome (ORPHA:35878)
Gene: GLUD1
Phenotype: Infantile onset (HP:0003593)
Associated disease: HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 6 (OMIM:606762)
Gene: GLUD1
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: Hyperinsulinism-hyperammonemia syndrome; HI/HA syndrome (ORPHA:35878)
Gene: GLUD1
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: Hyperinsulinism-hyperammonemia syndrome; HI/HA syndrome (ORPHA:35878)
Gene: GLUD1
Phenotype: Neonatal onset (HP:0003623)
Associated disease: HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 6 (OMIM:606762)
Gene: GLUD1
Phenotype: Hyperinsulinemic hypoglycemia (HP:0000825)
Associated disease: Hyperinsulinism-hyperammonemia syndrome; HI/HA syndrome (ORPHA:35878)
Gene: GLUD1
Phenotype: Hyperinsulinemic hypoglycemia (HP:0000825)
Associated disease: HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 6 (OMIM:606762)
Gene: GLUD1
Phenotype: Abnormality of the pancreatic islet cells (HP:0006476)
Associated disease: HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 6 (OMIM:606762)
Gene: GLUD1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 6 (OMIM:606762)
Gene: GLUD1
Phenotype: EEG with generalized epileptiform discharges (HP:0011198)
Associated disease: Hyperinsulinism-hyperammonemia syndrome; HI/HA syndrome (ORPHA:35878)
Gene: GLUD1
Phenotype: Increased urine alpha-ketoglutarate concentration (HP:0012402)
Associated disease: Hyperinsulinism-hyperammonemia syndrome; HI/HA syndrome (ORPHA:35878)
Gene: GLUL
Phenotype: Hypoglutaminemia (HP:0500147)
Associated disease: GLUTAMINE DEFICIENCY, CONGENITAL (OMIM:610015)
Gene: GLUL
Phenotype: Hypoglutaminemia (HP:0500147)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 116 (OMIM:620806)
Gene: GLUL
Phenotype: Decreased CSF glutamine concentration (HP:0500198)
Associated disease: GLUTAMINE DEFICIENCY, CONGENITAL (OMIM:610015)
Gene: GLUL
Phenotype: Decreased CSF glutamine concentration (HP:0500198)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 116 (OMIM:620806)
Gene: GLUL
Phenotype: Subependymal cysts (HP:0002416)
Associated disease: GLUTAMINE DEFICIENCY, CONGENITAL (OMIM:610015)
Gene: GLUL
Phenotype: Encephalopathy (HP:0001298)
Associated disease: GLUTAMINE DEFICIENCY, CONGENITAL (OMIM:610015)
Gene: GLUL
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: GLUTAMINE DEFICIENCY, CONGENITAL (OMIM:610015)
Gene: GLUL
Phenotype: Seizure (HP:0001250)
Associated disease: GLUTAMINE DEFICIENCY, CONGENITAL (OMIM:610015)
Gene: GLUL
Phenotype: Hypotonia (HP:0001252)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 116 (OMIM:620806)
Gene: GLUL
Phenotype: Hypotonia (HP:0001252)
Associated disease: GLUTAMINE DEFICIENCY, CONGENITAL (OMIM:610015)
Gene: GLUL
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 116 (OMIM:620806)
Gene: GLUL
Phenotype: Neonatal death (HP:0003811)
Associated disease: GLUTAMINE DEFICIENCY, CONGENITAL (OMIM:610015)
Gene: GLUL
Phenotype: Flexion contracture (HP:0001371)
Associated disease: GLUTAMINE DEFICIENCY, CONGENITAL (OMIM:610015)
Gene: GLUL
Phenotype: Thin corpus callosum (HP:0033725)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 116 (OMIM:620806)
Gene: GLUL
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: GLUTAMINE DEFICIENCY, CONGENITAL (OMIM:610015)
Gene: GLUL
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 116 (OMIM:620806)
Gene: GLUL
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: GLUTAMINE DEFICIENCY, CONGENITAL (OMIM:610015)
Gene: GLUL
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 116 (OMIM:620806)
Gene: GLUL
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: GLUTAMINE DEFICIENCY, CONGENITAL (OMIM:610015)
Gene: GLUL
Phenotype: Generalized non-motor (absence) seizure (HP:0002121)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 116 (OMIM:620806)
Gene: GLUL
Phenotype: CNS hypomyelination (HP:0003429)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 116 (OMIM:620806)
Gene: GLUL
Phenotype: CNS hypomyelination (HP:0003429)
Associated disease: GLUTAMINE DEFICIENCY, CONGENITAL (OMIM:610015)
Gene: GLUL
Phenotype: Apnea (HP:0002104)
Associated disease: GLUTAMINE DEFICIENCY, CONGENITAL (OMIM:610015)
Gene: GLUL
Phenotype: Generalized-onset seizure (HP:0002197)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 116 (OMIM:620806)
Gene: GLUL
Phenotype: Focal clonic seizure (HP:0002266)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 116 (OMIM:620806)
Gene: GLUL
Phenotype: Infantile onset (HP:0003593)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 116 (OMIM:620806)
Gene: GLUL
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: GLUTAMINE DEFICIENCY, CONGENITAL (OMIM:610015)
Gene: GLUL
Phenotype: Epileptic encephalopathy (HP:0200134)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 116 (OMIM:620806)
Gene: GLUL
Phenotype: Lower limb hyperreflexia (HP:0002395)
Associated disease: GLUTAMINE DEFICIENCY, CONGENITAL (OMIM:610015)
Gene: GLUL
Phenotype: Erythema (HP:0010783)
Associated disease: GLUTAMINE DEFICIENCY, CONGENITAL (OMIM:610015)
Gene: GLUL
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: GLUTAMINE DEFICIENCY, CONGENITAL (OMIM:610015)
Gene: GLUL
Phenotype: Hyperammonemia (HP:0001987)
Associated disease: GLUTAMINE DEFICIENCY, CONGENITAL (OMIM:610015)
Gene: GLUL
Phenotype: Lateral ventricle dilatation (HP:0006956)
Associated disease: GLUTAMINE DEFICIENCY, CONGENITAL (OMIM:610015)
Gene: GLUL
Phenotype: Antenatal onset (HP:0030674)
Associated disease: GLUTAMINE DEFICIENCY, CONGENITAL (OMIM:610015)
Gene: GLUL
Phenotype: Profound global developmental delay (HP:0012736)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 116 (OMIM:620806)
Gene: GLUL
Phenotype: Childhood onset (HP:0011463)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 116 (OMIM:620806)
Gene: GLUL
Phenotype: Short nose (HP:0003196)
Associated disease: GLUTAMINE DEFICIENCY, CONGENITAL (OMIM:610015)
Gene: GLUL
Phenotype: Thin vermilion border (HP:0000233)
Associated disease: GLUTAMINE DEFICIENCY, CONGENITAL (OMIM:610015)
Gene: GLUL
Phenotype: Camptodactyly (HP:0012385)
Associated disease: GLUTAMINE DEFICIENCY, CONGENITAL (OMIM:610015)
Gene: GLUL
Phenotype: Low-set ears (HP:0000369)
Associated disease: GLUTAMINE DEFICIENCY, CONGENITAL (OMIM:610015)
Gene: GLUL
Phenotype: Tonic seizure (HP:0032792)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 116 (OMIM:620806)
Gene: GLUL
Phenotype: Micromelia (HP:0002983)
Associated disease: GLUTAMINE DEFICIENCY, CONGENITAL (OMIM:610015)
Gene: GLUL
Phenotype: Myoclonic seizure (HP:0032794)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 116 (OMIM:620806)
Gene: GLUL
Phenotype: Bradycardia (HP:0001662)
Associated disease: GLUTAMINE DEFICIENCY, CONGENITAL (OMIM:610015)
Gene: GLUL
Phenotype: Generalized myoclonic-atonic seizure (HP:0011170)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 116 (OMIM:620806)
Gene: GLUL
Phenotype: Focal myoclonic seizure (HP:0011166)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 116 (OMIM:620806)
Gene: GLUL
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: GLUTAMINE DEFICIENCY, CONGENITAL (OMIM:610015)
Gene: GLUL
Phenotype: Infantile spasms (HP:0012469)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 116 (OMIM:620806)
Gene: GLUL
Phenotype: Anteverted nares (HP:0000463)
Associated disease: GLUTAMINE DEFICIENCY, CONGENITAL (OMIM:610015)
Gene: GLUL
Phenotype: Brain atrophy (HP:0012444)
Associated disease: GLUTAMINE DEFICIENCY, CONGENITAL (OMIM:610015)
Gene: GLUL
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: GLUTAMINE DEFICIENCY, CONGENITAL (OMIM:610015)
Gene: GLUL
Phenotype: Dilation of Virchow-Robin spaces (HP:0012520)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 116 (OMIM:620806)
Gene: GM2A
Phenotype: Progressive spastic quadriplegia (HP:0002478)
Associated disease: GM2 gangliosidosis, AB variant; Hexosaminidase activator deficiency (ORPHA:309246)
Gene: GM2A
Phenotype: Primitive reflex (HP:0002476)
Associated disease: GM2 gangliosidosis, AB variant; Hexosaminidase activator deficiency (ORPHA:309246)
Gene: GM2A
Phenotype: Primitive reflex (HP:0002476)
Associated disease: GM2-GANGLIOSIDOSIS, AB VARIANT (OMIM:272750)
Gene: GM2A
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: GM2 gangliosidosis, AB variant; Hexosaminidase activator deficiency (ORPHA:309246)
Gene: GM2A
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: GM2-GANGLIOSIDOSIS, AB VARIANT (OMIM:272750)
Gene: GM2A
Phenotype: Poor head control (HP:0002421)
Associated disease: GM2-GANGLIOSIDOSIS, AB VARIANT (OMIM:272750)
Gene: GM2A
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: GM2-GANGLIOSIDOSIS, AB VARIANT (OMIM:272750)
Gene: GM2A
Phenotype: Hypertonia (HP:0001276)
Associated disease: GM2-GANGLIOSIDOSIS, AB VARIANT (OMIM:272750)
Gene: GM2A
Phenotype: Spastic tetraparesis (HP:0001285)
Associated disease: GM2-GANGLIOSIDOSIS, AB VARIANT (OMIM:272750)
Gene: GM2A
Phenotype: Seizure (HP:0001250)
Associated disease: GM2 gangliosidosis, AB variant; Hexosaminidase activator deficiency (ORPHA:309246)
Gene: GM2A
Phenotype: Seizure (HP:0001250)
Associated disease: GM2-GANGLIOSIDOSIS, AB VARIANT (OMIM:272750)
Gene: GM2A
Phenotype: Hypotonia (HP:0001252)
Associated disease: GM2-GANGLIOSIDOSIS, AB VARIANT (OMIM:272750)
Gene: GM2A
Phenotype: Global developmental delay (HP:0001263)
Associated disease: GM2-GANGLIOSIDOSIS, AB VARIANT (OMIM:272750)
Gene: GM2A
Phenotype: Abnormal fear-induced behavior (HP:0100852)
Associated disease: GM2 gangliosidosis, AB variant; Hexosaminidase activator deficiency (ORPHA:309246)
Gene: GM2A
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: GM2 gangliosidosis, AB variant; Hexosaminidase activator deficiency (ORPHA:309246)
Gene: GM2A
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: GM2-GANGLIOSIDOSIS, AB VARIANT (OMIM:272750)
Gene: GM2A
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: GM2 gangliosidosis, AB variant; Hexosaminidase activator deficiency (ORPHA:309246)
Gene: GM2A
Phenotype: Dystonia (HP:0001332)
Associated disease: GM2 gangliosidosis, AB variant; Hexosaminidase activator deficiency (ORPHA:309246)
Gene: GM2A
Phenotype: Dystonia (HP:0001332)
Associated disease: GM2-GANGLIOSIDOSIS, AB VARIANT (OMIM:272750)
Gene: GM2A
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: GM2-GANGLIOSIDOSIS, AB VARIANT (OMIM:272750)
Gene: GM2A
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: GM2 gangliosidosis, AB variant; Hexosaminidase activator deficiency (ORPHA:309246)
Gene: GM2A
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: GM2-GANGLIOSIDOSIS, AB VARIANT (OMIM:272750)
Gene: GM2A
Phenotype: Glabellar reflex (HP:0030904)
Associated disease: GM2 gangliosidosis, AB variant; Hexosaminidase activator deficiency (ORPHA:309246)
Gene: GM2A
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: GM2 gangliosidosis, AB variant; Hexosaminidase activator deficiency (ORPHA:309246)
Gene: GM2A
Phenotype: Chorea (HP:0002072)
Associated disease: GM2 gangliosidosis, AB variant; Hexosaminidase activator deficiency (ORPHA:309246)
Gene: GM2A
Phenotype: Chorea (HP:0002072)
Associated disease: GM2-GANGLIOSIDOSIS, AB VARIANT (OMIM:272750)
Gene: GM2A
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: GM2 gangliosidosis, AB variant; Hexosaminidase activator deficiency (ORPHA:309246)
Gene: GM2A
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: GM2-GANGLIOSIDOSIS, AB VARIANT (OMIM:272750)
Gene: GM2A
Phenotype: Paralysis (HP:0003470)
Associated disease: GM2-GANGLIOSIDOSIS, AB VARIANT (OMIM:272750)
Gene: GM2A
Phenotype: Neurodegeneration (HP:0002180)
Associated disease: GM2 gangliosidosis, AB variant; Hexosaminidase activator deficiency (ORPHA:309246)