TaoMedAI/RareMedData huggingface dataset:
Gene: EXOSC8
Phenotype: Death in childhood (HP:0003819)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1C (OMIM:616081)
Gene: EXOSC8
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1C (OMIM:616081)
Gene: EXOSC8
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: PCH1; Pontocerebellar hypoplasia type 1; Norman disease (ORPHA:2254)
Gene: EXOSC8
Phenotype: Thin corpus callosum (HP:0033725)
Associated disease: PCH1; Pontocerebellar hypoplasia type 1; Norman disease (ORPHA:2254)
Gene: EXOSC8
Phenotype: Muscle weakness (HP:0001324)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1C (OMIM:616081)
Gene: EXOSC8
Phenotype: Muscle weakness (HP:0001324)
Associated disease: PCH1; Pontocerebellar hypoplasia type 1; Norman disease (ORPHA:2254)
Gene: EXOSC8
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1C (OMIM:616081)
Gene: EXOSC8
Phenotype: Tongue fasciculations (HP:0001308)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1C (OMIM:616081)
Gene: EXOSC8
Phenotype: Tongue fasciculations (HP:0001308)
Associated disease: PCH1; Pontocerebellar hypoplasia type 1; Norman disease (ORPHA:2254)
Gene: EXOSC8
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1C (OMIM:616081)
Gene: EXOSC8
Phenotype: Hypoplasia of the pons (HP:0012110)
Associated disease: PCH1; Pontocerebellar hypoplasia type 1; Norman disease (ORPHA:2254)
Gene: EXOSC8
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1C (OMIM:616081)
Gene: EXOSC8
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1C (OMIM:616081)
Gene: EXOSC8
Phenotype: Peripheral axonal neuropathy (HP:0003477)
Associated disease: PCH1; Pontocerebellar hypoplasia type 1; Norman disease (ORPHA:2254)
Gene: EXOSC8
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: PCH1; Pontocerebellar hypoplasia type 1; Norman disease (ORPHA:2254)
Gene: EXOSC8
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1C (OMIM:616081)
Gene: EXOSC8
Phenotype: Infantile onset (HP:0003593)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1C (OMIM:616081)
Gene: EXOSC8
Phenotype: Congenital laryngeal stridor (HP:0004886)
Associated disease: PCH1; Pontocerebellar hypoplasia type 1; Norman disease (ORPHA:2254)
Gene: EXOSC8
Phenotype: Enlarged cisterna magna (HP:0002280)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1C (OMIM:616081)
Gene: EXOSC8
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1C (OMIM:616081)
Gene: EXOSC8
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: PCH1; Pontocerebellar hypoplasia type 1; Norman disease (ORPHA:2254)
Gene: EXOSC8
Phenotype: Degeneration of anterior horn cells (HP:0002398)
Associated disease: PCH1; Pontocerebellar hypoplasia type 1; Norman disease (ORPHA:2254)
Gene: EXOSC8
Phenotype: Cerebellar cyst (HP:0002350)
Associated disease: PCH1; Pontocerebellar hypoplasia type 1; Norman disease (ORPHA:2254)
Gene: EXOSC8
Phenotype: Nystagmus (HP:0000639)
Associated disease: PCH1; Pontocerebellar hypoplasia type 1; Norman disease (ORPHA:2254)
Gene: EXOSC8
Phenotype: Optic atrophy (HP:0000648)
Associated disease: PCH1; Pontocerebellar hypoplasia type 1; Norman disease (ORPHA:2254)
Gene: EXOSC8
Phenotype: Irritability (HP:0000737)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1C (OMIM:616081)
Gene: EXOSC8
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1C (OMIM:616081)
Gene: EXOSC8
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: PCH1; Pontocerebellar hypoplasia type 1; Norman disease (ORPHA:2254)
Gene: EXOSC8
Phenotype: Joint contracture (HP:0034392)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1C (OMIM:616081)
Gene: EXOSC8
Phenotype: Arthrogryposis multiplex congenita (HP:0002804)
Associated disease: PCH1; Pontocerebellar hypoplasia type 1; Norman disease (ORPHA:2254)
Gene: EXOSC8
Phenotype: Progressive microcephaly (HP:0000253)
Associated disease: PCH1; Pontocerebellar hypoplasia type 1; Norman disease (ORPHA:2254)
Gene: EXOSC8
Phenotype: Respiratory failure (HP:0002878)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1C (OMIM:616081)
Gene: EXOSC8
Phenotype: Respiratory failure (HP:0002878)
Associated disease: PCH1; Pontocerebellar hypoplasia type 1; Norman disease (ORPHA:2254)
Gene: EXOSC8
Phenotype: Failure to thrive (HP:0001508)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1C (OMIM:616081)
Gene: EXOSC8
Phenotype: Failure to thrive (HP:0001508)
Associated disease: PCH1; Pontocerebellar hypoplasia type 1; Norman disease (ORPHA:2254)
Gene: EXOSC8
Phenotype: Hearing impairment (HP:0000365)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1C (OMIM:616081)
Gene: EXOSC8
Phenotype: Strabismus (HP:0000486)
Associated disease: PCH1; Pontocerebellar hypoplasia type 1; Norman disease (ORPHA:2254)
Gene: EXOSC8
Phenotype: Progressive visual loss (HP:0000529)
Associated disease: PCH1; Pontocerebellar hypoplasia type 1; Norman disease (ORPHA:2254)
Gene: EXOSC8
Phenotype: Visual impairment (HP:0000505)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1C (OMIM:616081)
Gene: EXOSC8
Phenotype: Esotropia (HP:0000565)
Associated disease: PCH1; Pontocerebellar hypoplasia type 1; Norman disease (ORPHA:2254)
Gene: RNF13
Phenotype: Tapered finger (HP:0001182)
Associated disease: RNF13-related severe early-onset epileptic encephalopathy; RNF13-related severe EOEE (ORPHA:544503)
Gene: RNF13
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: RNF13-related severe early-onset epileptic encephalopathy; RNF13-related severe EOEE (ORPHA:544503)
Gene: RNF13
Phenotype: Sepsis (HP:0100806)
Associated disease: RNF13-related severe early-onset epileptic encephalopathy; RNF13-related severe EOEE (ORPHA:544503)
Gene: RNF13
Phenotype: Hypertonia (HP:0001276)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 73 (OMIM:618379)
Gene: RNF13
Phenotype: Hypertonia (HP:0001276)
Associated disease: RNF13-related severe early-onset epileptic encephalopathy; RNF13-related severe EOEE (ORPHA:544503)
Gene: RNF13
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: RNF13-related severe early-onset epileptic encephalopathy; RNF13-related severe EOEE (ORPHA:544503)
Gene: RNF13
Phenotype: Seizure (HP:0001250)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 73 (OMIM:618379)
Gene: RNF13
Phenotype: Seizure (HP:0001250)
Associated disease: RNF13-related severe early-onset epileptic encephalopathy; RNF13-related severe EOEE (ORPHA:544503)
Gene: RNF13
Phenotype: Spasticity (HP:0001257)
Associated disease: RNF13-related severe early-onset epileptic encephalopathy; RNF13-related severe EOEE (ORPHA:544503)
Gene: RNF13
Phenotype: Metacarpophalangeal joint contracture (HP:0006070)
Associated disease: RNF13-related severe early-onset epileptic encephalopathy; RNF13-related severe EOEE (ORPHA:544503)
Gene: RNF13
Phenotype: Finger joint hypermobility (HP:0006094)
Associated disease: RNF13-related severe early-onset epileptic encephalopathy; RNF13-related severe EOEE (ORPHA:544503)
Gene: RNF13
Phenotype: Interictal EEG abnormality (HP:0025373)
Associated disease: RNF13-related severe early-onset epileptic encephalopathy; RNF13-related severe EOEE (ORPHA:544503)
Gene: RNF13
Phenotype: Flexion contracture (HP:0001371)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 73 (OMIM:618379)
Gene: RNF13
Phenotype: Flexion contracture (HP:0001371)
Associated disease: RNF13-related severe early-onset epileptic encephalopathy; RNF13-related severe EOEE (ORPHA:544503)
Gene: RNF13
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 73 (OMIM:618379)
Gene: RNF13
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: RNF13-related severe early-onset epileptic encephalopathy; RNF13-related severe EOEE (ORPHA:544503)
Gene: RNF13
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: RNF13-related severe early-onset epileptic encephalopathy; RNF13-related severe EOEE (ORPHA:544503)
Gene: RNF13
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 73 (OMIM:618379)
Gene: RNF13
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: RNF13-related severe early-onset epileptic encephalopathy; RNF13-related severe EOEE (ORPHA:544503)
Gene: RNF13
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 73 (OMIM:618379)
Gene: RNF13
Phenotype: Edema of the dorsum of hands (HP:0007514)
Associated disease: RNF13-related severe early-onset epileptic encephalopathy; RNF13-related severe EOEE (ORPHA:544503)
Gene: RNF13
Phenotype: Edema of the dorsum of feet (HP:0012098)
Associated disease: RNF13-related severe early-onset epileptic encephalopathy; RNF13-related severe EOEE (ORPHA:544503)
Gene: RNF13
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 73 (OMIM:618379)
Gene: RNF13
Phenotype: Scoliosis (HP:0002650)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 73 (OMIM:618379)
Gene: RNF13
Phenotype: Scoliosis (HP:0002650)
Associated disease: RNF13-related severe early-onset epileptic encephalopathy; RNF13-related severe EOEE (ORPHA:544503)
Gene: RNF13
Phenotype: Visual fixation instability (HP:0025405)
Associated disease: RNF13-related severe early-onset epileptic encephalopathy; RNF13-related severe EOEE (ORPHA:544503)
Gene: RNF13
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 73 (OMIM:618379)
Gene: RNF13
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: RNF13-related severe early-onset epileptic encephalopathy; RNF13-related severe EOEE (ORPHA:544503)
Gene: RNF13
Phenotype: Midface retrusion (HP:0011800)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 73 (OMIM:618379)
Gene: RNF13
Phenotype: Midface retrusion (HP:0011800)
Associated disease: RNF13-related severe early-onset epileptic encephalopathy; RNF13-related severe EOEE (ORPHA:544503)
Gene: RNF13
Phenotype: Respiratory distress (HP:0002098)
Associated disease: RNF13-related severe early-onset epileptic encephalopathy; RNF13-related severe EOEE (ORPHA:544503)
Gene: RNF13
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: RNF13-related severe early-onset epileptic encephalopathy; RNF13-related severe EOEE (ORPHA:544503)
Gene: RNF13
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 73 (OMIM:618379)
Gene: RNF13
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: RNF13-related severe early-onset epileptic encephalopathy; RNF13-related severe EOEE (ORPHA:544503)
Gene: RNF13
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 73 (OMIM:618379)
Gene: RNF13
Phenotype: Intellectual disability, profound (HP:0002187)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 73 (OMIM:618379)
Gene: RNF13
Phenotype: Intellectual disability, profound (HP:0002187)
Associated disease: RNF13-related severe early-onset epileptic encephalopathy; RNF13-related severe EOEE (ORPHA:544503)
Gene: RNF13
Phenotype: Nail dysplasia (HP:0002164)
Associated disease: RNF13-related severe early-onset epileptic encephalopathy; RNF13-related severe EOEE (ORPHA:544503)
Gene: RNF13
Phenotype: Congenital onset (HP:0003577)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 73 (OMIM:618379)
Gene: RNF13
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 73 (OMIM:618379)
Gene: RNF13
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: RNF13-related severe early-onset epileptic encephalopathy; RNF13-related severe EOEE (ORPHA:544503)
Gene: RNF13
Phenotype: Epileptic encephalopathy (HP:0200134)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 73 (OMIM:618379)
Gene: RNF13
Phenotype: Epileptic encephalopathy (HP:0200134)
Associated disease: RNF13-related severe early-onset epileptic encephalopathy; RNF13-related severe EOEE (ORPHA:544503)
Gene: RNF13
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: RNF13-related severe early-onset epileptic encephalopathy; RNF13-related severe EOEE (ORPHA:544503)
Gene: RNF13
Phenotype: EEG with generalized slow activity (HP:0010845)
Associated disease: RNF13-related severe early-onset epileptic encephalopathy; RNF13-related severe EOEE (ORPHA:544503)
Gene: RNF13
Phenotype: Hypodontia (HP:0000668)
Associated disease: RNF13-related severe early-onset epileptic encephalopathy; RNF13-related severe EOEE (ORPHA:544503)
Gene: RNF13
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: RNF13-related severe early-onset epileptic encephalopathy; RNF13-related severe EOEE (ORPHA:544503)
Gene: RNF13
Phenotype: Irritability (HP:0000737)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 73 (OMIM:618379)
Gene: RNF13
Phenotype: Irritability (HP:0000737)
Associated disease: RNF13-related severe early-onset epileptic encephalopathy; RNF13-related severe EOEE (ORPHA:544503)
Gene: RNF13
Phenotype: Restlessness (HP:0000711)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 73 (OMIM:618379)
Gene: RNF13
Phenotype: Restlessness (HP:0000711)
Associated disease: RNF13-related severe early-onset epileptic encephalopathy; RNF13-related severe EOEE (ORPHA:544503)
Gene: RNF13
Phenotype: Gastrostomy tube feeding in infancy (HP:0011471)
Associated disease: RNF13-related severe early-onset epileptic encephalopathy; RNF13-related severe EOEE (ORPHA:544503)
Gene: RNF13
Phenotype: Elevated maternal circulating alpha-fetoprotein concentration (HP:0011432)
Associated disease: RNF13-related severe early-onset epileptic encephalopathy; RNF13-related severe EOEE (ORPHA:544503)
Gene: RNF13
Phenotype: Abnormal circulating vitamin B12 concentration (HP:0040126)
Associated disease: RNF13-related severe early-onset epileptic encephalopathy; RNF13-related severe EOEE (ORPHA:544503)
Gene: RNF13
Phenotype: Short nose (HP:0003196)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 73 (OMIM:618379)
Gene: RNF13
Phenotype: Short nose (HP:0003196)
Associated disease: RNF13-related severe early-onset epileptic encephalopathy; RNF13-related severe EOEE (ORPHA:544503)
Gene: RNF13
Phenotype: Wrist hypermobility (HP:0005072)
Associated disease: RNF13-related severe early-onset epileptic encephalopathy; RNF13-related severe EOEE (ORPHA:544503)
Gene: RNF13
Phenotype: Microcephaly (HP:0000252)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 73 (OMIM:618379)
Gene: RNF13
Phenotype: Microcephaly (HP:0000252)
Associated disease: RNF13-related severe early-onset epileptic encephalopathy; RNF13-related severe EOEE (ORPHA:544503)
Gene: RNF13
Phenotype: Failure to thrive (HP:0001508)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 73 (OMIM:618379)
Gene: RNF13
Phenotype: Failure to thrive (HP:0001508)
Associated disease: RNF13-related severe early-onset epileptic encephalopathy; RNF13-related severe EOEE (ORPHA:544503)
Gene: RNF13
Phenotype: Narrow forehead (HP:0000341)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 73 (OMIM:618379)
Gene: RNF13
Phenotype: Narrow forehead (HP:0000341)
Associated disease: RNF13-related severe early-onset epileptic encephalopathy; RNF13-related severe EOEE (ORPHA:544503)
Gene: RNF13
Phenotype: Short chin (HP:0000331)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 73 (OMIM:618379)
Gene: RNF13
Phenotype: Short chin (HP:0000331)
Associated disease: RNF13-related severe early-onset epileptic encephalopathy; RNF13-related severe EOEE (ORPHA:544503)
Gene: RNF13
Phenotype: EEG with focal epileptiform discharges (HP:0011185)
Associated disease: RNF13-related severe early-onset epileptic encephalopathy; RNF13-related severe EOEE (ORPHA:544503)
Gene: RNF13
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 73 (OMIM:618379)
Gene: RNF13
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: RNF13-related severe early-onset epileptic encephalopathy; RNF13-related severe EOEE (ORPHA:544503)
Gene: RNF13
Phenotype: Infantile spasms (HP:0012469)
Associated disease: RNF13-related severe early-onset epileptic encephalopathy; RNF13-related severe EOEE (ORPHA:544503)
Gene: RNF13
Phenotype: Abnormality of eye movement (HP:0000496)
Associated disease: RNF13-related severe early-onset epileptic encephalopathy; RNF13-related severe EOEE (ORPHA:544503)
Gene: RNF13
Phenotype: Delayed myelination (HP:0012448)
Associated disease: RNF13-related severe early-onset epileptic encephalopathy; RNF13-related severe EOEE (ORPHA:544503)
Gene: RNF13
Phenotype: Narrow nasal bridge (HP:0000446)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 73 (OMIM:618379)
Gene: RNF13
Phenotype: Narrow nasal bridge (HP:0000446)
Associated disease: RNF13-related severe early-onset epileptic encephalopathy; RNF13-related severe EOEE (ORPHA:544503)
Gene: RNF13
Phenotype: Cataract (HP:0000518)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 73 (OMIM:618379)
Gene: RNF13
Phenotype: Cataract (HP:0000518)
Associated disease: RNF13-related severe early-onset epileptic encephalopathy; RNF13-related severe EOEE (ORPHA:544503)
Gene: COG2
Phenotype: Hypotonia (HP:0001252)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIq (OMIM:617395)
Gene: COG2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: COG2-CDG; COG2-related congenital disorder of glycosylation (ORPHA:435934)
Gene: COG2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIq (OMIM:617395)
Gene: COG2
Phenotype: Spastic tetraplegia (HP:0002510)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIq (OMIM:617395)
Gene: COG2
Phenotype: Spastic tetraplegia (HP:0002510)
Associated disease: COG2-CDG; COG2-related congenital disorder of glycosylation (ORPHA:435934)
Gene: COG2
Phenotype: Diffuse cerebral atrophy (HP:0002506)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIq (OMIM:617395)
Gene: COG2
Phenotype: Diffuse cerebral atrophy (HP:0002506)
Associated disease: COG2-CDG; COG2-related congenital disorder of glycosylation (ORPHA:435934)
Gene: COG2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIq (OMIM:617395)
Gene: COG2
Phenotype: Decreased liver function (HP:0001410)
Associated disease: COG2-CDG; COG2-related congenital disorder of glycosylation (ORPHA:435934)
Gene: COG2
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIq (OMIM:617395)
Gene: COG2
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: COG2-CDG; COG2-related congenital disorder of glycosylation (ORPHA:435934)
Gene: COG2
Phenotype: Infantile onset (HP:0003593)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIq (OMIM:617395)
Gene: COG2
Phenotype: Decreased circulating copper concentration (HP:0011967)
Associated disease: COG2-CDG; COG2-related congenital disorder of glycosylation (ORPHA:435934)
Gene: COG2
Phenotype: Decreased circulating copper concentration (HP:0011967)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIq (OMIM:617395)
Gene: COG2
Phenotype: Psychomotor deterioration (HP:0002361)
Associated disease: COG2-CDG; COG2-related congenital disorder of glycosylation (ORPHA:435934)
Gene: COG2
Phenotype: Decreased circulating ceruloplasmin concentration (HP:0010837)
Associated disease: COG2-CDG; COG2-related congenital disorder of glycosylation (ORPHA:435934)
Gene: COG2
Phenotype: Decreased circulating ceruloplasmin concentration (HP:0010837)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIq (OMIM:617395)
Gene: COG2
Phenotype: Generalized tonic seizure (HP:0010818)
Associated disease: COG2-CDG; COG2-related congenital disorder of glycosylation (ORPHA:435934)
Gene: COG2
Phenotype: Generalized tonic seizure (HP:0010818)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIq (OMIM:617395)
Gene: COG2
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: COG2-CDG; COG2-related congenital disorder of glycosylation (ORPHA:435934)
Gene: COG2
Phenotype: Abnormality of the coagulation cascade (HP:0003256)
Associated disease: COG2-CDG; COG2-related congenital disorder of glycosylation (ORPHA:435934)
Gene: COG2
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIq (OMIM:617395)
Gene: COG2
Phenotype: Abnormal glycosylation (HP:0012345)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIq (OMIM:617395)
Gene: COG2
Phenotype: Secondary microcephaly (HP:0005484)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIq (OMIM:617395)
Gene: COG2
Phenotype: Secondary microcephaly (HP:0005484)
Associated disease: COG2-CDG; COG2-related congenital disorder of glycosylation (ORPHA:435934)
Gene: COG2
Phenotype: Small pituitary gland (HP:0012506)
Associated disease: COG2-CDG; COG2-related congenital disorder of glycosylation (ORPHA:435934)
Gene: COG2
Phenotype: Small pituitary gland (HP:0012506)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIq (OMIM:617395)
Gene: RRAS2
Phenotype: Brachydactyly (HP:0001156)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: RRAS2
Phenotype: Dilatation of the renal pelvis (HP:0010946)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: RRAS2
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RRAS2
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RRAS2
Phenotype: Motor delay (HP:0001270)
Associated disease: NOONAN SYNDROME 12 (OMIM:618624)
Gene: RRAS2
Phenotype: Hypotonia (HP:0001252)
Associated disease: NOONAN SYNDROME 12 (OMIM:618624)
Gene: RRAS2
Phenotype: Hypotonia (HP:0001252)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: RRAS2
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RRAS2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: RRAS2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RRAS2
Phenotype: Dysarthria (HP:0001260)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: RRAS2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RRAS2
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RRAS2
Phenotype: Abnormality of the genital system (HP:0000078)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: RRAS2
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: RRAS2
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: RRAS2
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RRAS2
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RRAS2
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: RRAS2
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RRAS2
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: Noonan syndrome (ORPHA:648)
Gene: RRAS2
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: NOONAN SYNDROME 12 (OMIM:618624)
Gene: RRAS2
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: Noonan syndrome (ORPHA:648)