TaoMedAI/RareMedData huggingface dataset:
Gene: TANGO2
Phenotype: Status epilepticus (HP:0002133)
Associated disease: METABOLIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION (OMIM:616878)
Gene: TANGO2
Phenotype: EMG: myopathic abnormalities (HP:0003458)
Associated disease: Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome; TANGO2-related metabolic encephalopathy-arrhythmia syndrome (ORPHA:480864)
Gene: TANGO2
Phenotype: Ventricular tachycardia (HP:0004756)
Associated disease: METABOLIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION (OMIM:616878)
Gene: TANGO2
Phenotype: Neurodegeneration (HP:0002180)
Associated disease: METABOLIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION (OMIM:616878)
Gene: TANGO2
Phenotype: Clonus (HP:0002169)
Associated disease: Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome; TANGO2-related metabolic encephalopathy-arrhythmia syndrome (ORPHA:480864)
Gene: TANGO2
Phenotype: Clonus (HP:0002169)
Associated disease: METABOLIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION (OMIM:616878)
Gene: TANGO2
Phenotype: Hypoglycemic seizures (HP:0002173)
Associated disease: Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome; TANGO2-related metabolic encephalopathy-arrhythmia syndrome (ORPHA:480864)
Gene: TANGO2
Phenotype: Compensated hypothyroidism (HP:0008223)
Associated disease: Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome; TANGO2-related metabolic encephalopathy-arrhythmia syndrome (ORPHA:480864)
Gene: TANGO2
Phenotype: Infantile onset (HP:0003593)
Associated disease: METABOLIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION (OMIM:616878)
Gene: TANGO2
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome; TANGO2-related metabolic encephalopathy-arrhythmia syndrome (ORPHA:480864)
Gene: TANGO2
Phenotype: Oral-pharyngeal dysphagia (HP:0200136)
Associated disease: METABOLIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION (OMIM:616878)
Gene: TANGO2
Phenotype: Global brain atrophy (HP:0002283)
Associated disease: Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome; TANGO2-related metabolic encephalopathy-arrhythmia syndrome (ORPHA:480864)
Gene: TANGO2
Phenotype: Focal impaired awareness seizure (HP:0002384)
Associated disease: Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome; TANGO2-related metabolic encephalopathy-arrhythmia syndrome (ORPHA:480864)
Gene: TANGO2
Phenotype: Developmental regression (HP:0002376)
Associated disease: Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome; TANGO2-related metabolic encephalopathy-arrhythmia syndrome (ORPHA:480864)
Gene: TANGO2
Phenotype: Developmental regression (HP:0002376)
Associated disease: METABOLIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION (OMIM:616878)
Gene: TANGO2
Phenotype: Poor coordination (HP:0002370)
Associated disease: METABOLIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION (OMIM:616878)
Gene: TANGO2
Phenotype: Elevated circulating tetradecenoylcarnitine concentration (HP:6000476)
Associated disease: METABOLIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION (OMIM:616878)
Gene: TANGO2
Phenotype: Generalized tonic seizure (HP:0010818)
Associated disease: Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome; TANGO2-related metabolic encephalopathy-arrhythmia syndrome (ORPHA:480864)
Gene: TANGO2
Phenotype: Incoordination (HP:0002311)
Associated disease: Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome; TANGO2-related metabolic encephalopathy-arrhythmia syndrome (ORPHA:480864)
Gene: TANGO2
Phenotype: Drooling (HP:0002307)
Associated disease: METABOLIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION (OMIM:616878)
Gene: TANGO2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: METABOLIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION (OMIM:616878)
Gene: TANGO2
Phenotype: Hyperactive deep tendon reflexes (HP:0006801)
Associated disease: METABOLIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION (OMIM:616878)
Gene: TANGO2
Phenotype: Nystagmus (HP:0000639)
Associated disease: Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome; TANGO2-related metabolic encephalopathy-arrhythmia syndrome (ORPHA:480864)
Gene: TANGO2
Phenotype: Amblyopia (HP:0000646)
Associated disease: Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome; TANGO2-related metabolic encephalopathy-arrhythmia syndrome (ORPHA:480864)
Gene: TANGO2
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome; TANGO2-related metabolic encephalopathy-arrhythmia syndrome (ORPHA:480864)
Gene: TANGO2
Phenotype: Optic atrophy (HP:0000648)
Associated disease: METABOLIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION (OMIM:616878)
Gene: TANGO2
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome; TANGO2-related metabolic encephalopathy-arrhythmia syndrome (ORPHA:480864)
Gene: TANGO2
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: METABOLIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION (OMIM:616878)
Gene: TANGO2
Phenotype: Metabolic acidosis (HP:0001942)
Associated disease: METABOLIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION (OMIM:616878)
Gene: TANGO2
Phenotype: Supranuclear gaze palsy (HP:0000605)
Associated disease: Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome; TANGO2-related metabolic encephalopathy-arrhythmia syndrome (ORPHA:480864)
Gene: TANGO2
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome; TANGO2-related metabolic encephalopathy-arrhythmia syndrome (ORPHA:480864)
Gene: TANGO2
Phenotype: Moderate global developmental delay (HP:0011343)
Associated disease: Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome; TANGO2-related metabolic encephalopathy-arrhythmia syndrome (ORPHA:480864)
Gene: TANGO2
Phenotype: Mild global developmental delay (HP:0011342)
Associated disease: Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome; TANGO2-related metabolic encephalopathy-arrhythmia syndrome (ORPHA:480864)
Gene: TANGO2
Phenotype: Hyperammonemia (HP:0001987)
Associated disease: Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome; TANGO2-related metabolic encephalopathy-arrhythmia syndrome (ORPHA:480864)
Gene: TANGO2
Phenotype: Hyperammonemia (HP:0001987)
Associated disease: METABOLIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION (OMIM:616878)
Gene: TANGO2
Phenotype: Elevated circulating aspartate aminotransferase concentration (HP:0031956)
Associated disease: METABOLIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION (OMIM:616878)
Gene: TANGO2
Phenotype: Elevated circulating alanine aminotransferase concentration (HP:0031964)
Associated disease: METABOLIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION (OMIM:616878)
Gene: TANGO2
Phenotype: Involuntary movements (HP:0004305)
Associated disease: Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome; TANGO2-related metabolic encephalopathy-arrhythmia syndrome (ORPHA:480864)
Gene: TANGO2
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome; TANGO2-related metabolic encephalopathy-arrhythmia syndrome (ORPHA:480864)
Gene: TANGO2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome; TANGO2-related metabolic encephalopathy-arrhythmia syndrome (ORPHA:480864)
Gene: TANGO2
Phenotype: Childhood onset (HP:0011463)
Associated disease: METABOLIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION (OMIM:616878)
Gene: TANGO2
Phenotype: Abnormal EKG (HP:0003115)
Associated disease: Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome; TANGO2-related metabolic encephalopathy-arrhythmia syndrome (ORPHA:480864)
Gene: TANGO2
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome; TANGO2-related metabolic encephalopathy-arrhythmia syndrome (ORPHA:480864)
Gene: TANGO2
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: METABOLIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION (OMIM:616878)
Gene: TANGO2
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: METABOLIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION (OMIM:616878)
Gene: TANGO2
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome; TANGO2-related metabolic encephalopathy-arrhythmia syndrome (ORPHA:480864)
Gene: TANGO2
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: METABOLIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION (OMIM:616878)
Gene: TANGO2
Phenotype: Rhabdomyolysis (HP:0003201)
Associated disease: METABOLIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION (OMIM:616878)
Gene: TANGO2
Phenotype: Elevated circulating acylcarnitine concentration (HP:0045045)
Associated disease: METABOLIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION (OMIM:616878)
Gene: TANGO2
Phenotype: Elevated circulating acylcarnitine concentration (HP:0045045)
Associated disease: Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome; TANGO2-related metabolic encephalopathy-arrhythmia syndrome (ORPHA:480864)
Gene: TANGO2
Phenotype: Premature thelarche (HP:0010314)
Associated disease: METABOLIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION (OMIM:616878)
Gene: TANGO2
Phenotype: Arrhythmia (HP:0011675)
Associated disease: Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome; TANGO2-related metabolic encephalopathy-arrhythmia syndrome (ORPHA:480864)
Gene: TANGO2
Phenotype: Microcephaly (HP:0000252)
Associated disease: METABOLIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION (OMIM:616878)
Gene: TANGO2
Phenotype: Microcephaly (HP:0000252)
Associated disease: Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome; TANGO2-related metabolic encephalopathy-arrhythmia syndrome (ORPHA:480864)
Gene: TANGO2
Phenotype: Ketonuria (HP:0002919)
Associated disease: Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome; TANGO2-related metabolic encephalopathy-arrhythmia syndrome (ORPHA:480864)
Gene: TANGO2
Phenotype: Ketonuria (HP:0002919)
Associated disease: METABOLIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION (OMIM:616878)
Gene: TANGO2
Phenotype: Myoglobinuria (HP:0002913)
Associated disease: METABOLIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION (OMIM:616878)
Gene: TANGO2
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome; TANGO2-related metabolic encephalopathy-arrhythmia syndrome (ORPHA:480864)
Gene: TANGO2
Phenotype: Prolonged QTc interval (HP:0005184)
Associated disease: METABOLIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION (OMIM:616878)
Gene: TANGO2
Phenotype: Cardiac arrest (HP:0001695)
Associated disease: METABOLIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION (OMIM:616878)
Gene: TANGO2
Phenotype: Torsade de pointes (HP:0001664)
Associated disease: METABOLIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION (OMIM:616878)
Gene: TANGO2
Phenotype: Ventricular fibrillation (HP:0001663)
Associated disease: METABOLIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION (OMIM:616878)
Gene: TANGO2
Phenotype: Bradycardia (HP:0001662)
Associated disease: METABOLIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION (OMIM:616878)
Gene: TANGO2
Phenotype: Prolonged QT interval (HP:0001657)
Associated disease: Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome; TANGO2-related metabolic encephalopathy-arrhythmia syndrome (ORPHA:480864)
Gene: TANGO2
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: METABOLIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION (OMIM:616878)
Gene: TANGO2
Phenotype: Premature ventricular contraction (HP:0006682)
Associated disease: METABOLIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION (OMIM:616878)
Gene: TANGO2
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome; TANGO2-related metabolic encephalopathy-arrhythmia syndrome (ORPHA:480864)
Gene: TANGO2
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: METABOLIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION (OMIM:616878)
Gene: TANGO2
Phenotype: Infantile spasms (HP:0012469)
Associated disease: Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome; TANGO2-related metabolic encephalopathy-arrhythmia syndrome (ORPHA:480864)
Gene: TANGO2
Phenotype: Premature pubarche (HP:0012411)
Associated disease: METABOLIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION (OMIM:616878)
Gene: TANGO2
Phenotype: Elevated circulating aldolase concentration (HP:0012544)
Associated disease: METABOLIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION (OMIM:616878)
Gene: PPP1R21
Phenotype: Facial hirsutism (HP:0009937)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES (OMIM:619383)
Gene: PPP1R21
Phenotype: Underdeveloped supraorbital ridges (HP:0009891)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES (OMIM:619383)
Gene: PPP1R21
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PPP1R21
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PPP1R21
Phenotype: Areflexia (HP:0001284)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES (OMIM:619383)
Gene: PPP1R21
Phenotype: Hypotonia (HP:0001252)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES (OMIM:619383)
Gene: PPP1R21
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PPP1R21
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PPP1R21
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES (OMIM:619383)
Gene: PPP1R21
Phenotype: Dysarthria (HP:0001260)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES (OMIM:619383)
Gene: PPP1R21
Phenotype: Global developmental delay (HP:0001263)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES (OMIM:619383)
Gene: PPP1R21
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PPP1R21
Phenotype: Inability to walk (HP:0002540)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES (OMIM:619383)
Gene: PPP1R21
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PPP1R21
Phenotype: Flexion contracture (HP:0001371)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES (OMIM:619383)
Gene: PPP1R21
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PPP1R21
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PPP1R21
Phenotype: Plagiocephaly (HP:0001357)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES (OMIM:619383)
Gene: PPP1R21
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PPP1R21
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PPP1R21
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PPP1R21
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PPP1R21
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES (OMIM:619383)
Gene: PPP1R21
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PPP1R21
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PPP1R21
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES (OMIM:619383)
Gene: PPP1R21
Phenotype: Scoliosis (HP:0002650)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES (OMIM:619383)
Gene: PPP1R21
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PPP1R21
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PPP1R21
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PPP1R21
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PPP1R21
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PPP1R21
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PPP1R21
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES (OMIM:619383)
Gene: PPP1R21
Phenotype: Poor suck (HP:0002033)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES (OMIM:619383)
Gene: PPP1R21
Phenotype: Respiratory distress (HP:0002098)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES (OMIM:619383)
Gene: PPP1R21
Phenotype: Gait ataxia (HP:0002066)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES (OMIM:619383)
Gene: PPP1R21
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES (OMIM:619383)
Gene: PPP1R21
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PPP1R21
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PPP1R21
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES (OMIM:619383)
Gene: PPP1R21
Phenotype: Overlapping fingers (HP:0010557)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES (OMIM:619383)
Gene: PPP1R21
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES (OMIM:619383)
Gene: PPP1R21
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES (OMIM:619383)
Gene: PPP1R21
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES (OMIM:619383)
Gene: PPP1R21
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES (OMIM:619383)
Gene: PPP1R21
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PPP1R21
Phenotype: Cavum septum pellucidum (HP:0002389)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES (OMIM:619383)
Gene: PPP1R21
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PPP1R21
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PPP1R21
Phenotype: Tented upper lip vermilion (HP:0010804)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES (OMIM:619383)
Gene: PPP1R21
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PPP1R21
Phenotype: Broad columella (HP:0010761)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES (OMIM:619383)
Gene: PPP1R21
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PPP1R21
Phenotype: Low hanging columella (HP:0009765)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES (OMIM:619383)
Gene: PPP1R21
Phenotype: Neonatal onset (HP:0003623)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES (OMIM:619383)