TaoMedAI/RareMedData huggingface dataset:
Gene: SULF1
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SULF1
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SULF1
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SULF1
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SULF1
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SULF1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SULF1
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SULF1
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SULF1
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SULF1
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SULF1
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SULF1
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SULF1
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SULF1
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SULF1
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SULF1
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SULF1
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SULF1
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SULF1
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SULF1
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SULF1
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SULF1
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SULF1
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SULF1
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SULF1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SULF1
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SULF1
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SULF1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SULF1
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SULF1
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SULF1
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SULF1
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SULF1
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SULF1
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SULF1
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SULF1
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SULF1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SULF1
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SULF1
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SULF1
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SULF1
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SULF1
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SULF1
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SULF1
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SULF1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SULF1
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SULF1
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SULF1
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SULF1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SULF1
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SULF1
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SULF1
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SULF1
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SULF1
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SULF1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SULF1
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SULF1
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SULF1
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SULF1
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SULF1
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SULF1
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SULF1
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SULF1
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SULF1
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NBEAL2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: GRAY PLATELET SYNDROME (OMIM:139090)
Gene: NBEAL2
Phenotype: Reduced quantity of Von Willebrand factor (HP:0012147)
Associated disease: GRAY PLATELET SYNDROME (OMIM:139090)
Gene: NBEAL2
Phenotype: Abnormality of the menstrual cycle (HP:0000140)
Associated disease: GPS; Gray platelet syndrome; Alpha storage pool deficiency; Platelet alpha-granule deficiency (ORPHA:721)
Gene: NBEAL2
Phenotype: Menorrhagia (HP:0000132)
Associated disease: GRAY PLATELET SYNDROME (OMIM:139090)
Gene: NBEAL2
Phenotype: Impaired thrombin-induced platelet aggregation (HP:0011872)
Associated disease: GRAY PLATELET SYNDROME (OMIM:139090)
Gene: NBEAL2
Phenotype: Myelofibrosis (HP:0011974)
Associated disease: GRAY PLATELET SYNDROME (OMIM:139090)
Gene: NBEAL2
Phenotype: Reduced von Willebrand factor activity (HP:0008330)
Associated disease: GRAY PLATELET SYNDROME (OMIM:139090)
Gene: NBEAL2
Phenotype: Impaired collagen-induced platelet aggregation (HP:0008320)
Associated disease: GRAY PLATELET SYNDROME (OMIM:139090)
Gene: NBEAL2
Phenotype: Progressive (HP:0003676)
Associated disease: GRAY PLATELET SYNDROME (OMIM:139090)
Gene: NBEAL2
Phenotype: Prolonged bleeding time (HP:0003010)
Associated disease: GRAY PLATELET SYNDROME (OMIM:139090)
Gene: NBEAL2
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: GRAY PLATELET SYNDROME (OMIM:139090)
Gene: NBEAL2
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: GPS; Gray platelet syndrome; Alpha storage pool deficiency; Platelet alpha-granule deficiency (ORPHA:721)
Gene: NBEAL2
Phenotype: Myelodysplasia (HP:0002863)
Associated disease: GPS; Gray platelet syndrome; Alpha storage pool deficiency; Platelet alpha-granule deficiency (ORPHA:721)
Gene: NBEAL2
Phenotype: Splenomegaly (HP:0001744)
Associated disease: GRAY PLATELET SYNDROME (OMIM:139090)
Gene: NBEAL2
Phenotype: Splenomegaly (HP:0001744)
Associated disease: GPS; Gray platelet syndrome; Alpha storage pool deficiency; Platelet alpha-granule deficiency (ORPHA:721)
Gene: NBEAL2
Phenotype: Epistaxis (HP:0000421)
Associated disease: GRAY PLATELET SYNDROME (OMIM:139090)
Gene: NBEAL2
Phenotype: Epistaxis (HP:0000421)
Associated disease: GPS; Gray platelet syndrome; Alpha storage pool deficiency; Platelet alpha-granule deficiency (ORPHA:721)
Gene: NBEAL2
Phenotype: Abnormal bleeding (HP:0001892)
Associated disease: GRAY PLATELET SYNDROME (OMIM:139090)
Gene: NBEAL2
Phenotype: Abnormal bleeding (HP:0001892)
Associated disease: GPS; Gray platelet syndrome; Alpha storage pool deficiency; Platelet alpha-granule deficiency (ORPHA:721)
Gene: NBEAL2
Phenotype: Abnormality of thrombocytes (HP:0001872)
Associated disease: GPS; Gray platelet syndrome; Alpha storage pool deficiency; Platelet alpha-granule deficiency (ORPHA:721)
Gene: NBEAL2
Phenotype: Abnormal number of alpha granules (HP:0012528)
Associated disease: GRAY PLATELET SYNDROME (OMIM:139090)
Gene: NBEAL2
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: GRAY PLATELET SYNDROME (OMIM:139090)
Gene: NBEAL2
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: GPS; Gray platelet syndrome; Alpha storage pool deficiency; Platelet alpha-granule deficiency (ORPHA:721)
Gene: FBXO28
Phenotype: Brachydactyly (HP:0001156)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100 (OMIM:619777)
Gene: FBXO28
Phenotype: EEG with photoparoxysmal response (HP:0010852)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100 (OMIM:619777)
Gene: FBXO28
Phenotype: Poor head control (HP:0002421)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: FBXO28
Phenotype: Encephalopathy (HP:0001298)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: FBXO28
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: FBXO28
Phenotype: Abnormal corpus callosum morphology (HP:0001273)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: FBXO28
Phenotype: Mental deterioration (HP:0001268)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: FBXO28
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: FBXO28
Phenotype: Areflexia (HP:0001284)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100 (OMIM:619777)
Gene: FBXO28
Phenotype: Seizure (HP:0001250)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: FBXO28
Phenotype: Seizure (HP:0001250)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100 (OMIM:619777)
Gene: FBXO28
Phenotype: Hypotonia (HP:0001252)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100 (OMIM:619777)
Gene: FBXO28
Phenotype: Ataxia (HP:0001251)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: FBXO28
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: FBXO28
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100 (OMIM:619777)
Gene: FBXO28
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: FBXO28
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100 (OMIM:619777)
Gene: FBXO28
Phenotype: Choreoathetosis (HP:0001266)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100 (OMIM:619777)
Gene: FBXO28
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: FBXO28
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100 (OMIM:619777)
Gene: FBXO28
Phenotype: Spasticity (HP:0001257)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: FBXO28
Phenotype: Acral blistering (HP:0031045)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100 (OMIM:619777)
Gene: FBXO28
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100 (OMIM:619777)
Gene: FBXO28
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: FBXO28
Phenotype: Limb hypertonia (HP:0002509)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: FBXO28
Phenotype: Thin corpus callosum (HP:0033725)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100 (OMIM:619777)
Gene: FBXO28
Phenotype: Tremor (HP:0001337)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: FBXO28
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100 (OMIM:619777)
Gene: FBXO28
Phenotype: Myoclonus (HP:0001336)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: FBXO28
Phenotype: Myoclonus (HP:0001336)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100 (OMIM:619777)
Gene: FBXO28
Phenotype: Pachygyria (HP:0001302)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100 (OMIM:619777)
Gene: FBXO28
Phenotype: Scoliosis (HP:0002650)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100 (OMIM:619777)
Gene: FBXO28
Phenotype: Reduced tendon reflexes (HP:0001315)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: FBXO28
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100 (OMIM:619777)
Gene: FBXO28
Phenotype: Enamel hypoplasia (HP:0006297)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100 (OMIM:619777)
Gene: FBXO28
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: FBXO28
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100 (OMIM:619777)
Gene: FBXO28
Phenotype: Dysphagia (HP:0002015)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100 (OMIM:619777)
Gene: FBXO28
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100 (OMIM:619777)
Gene: FBXO28
Phenotype: Gait ataxia (HP:0002066)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100 (OMIM:619777)
Gene: FBXO28
Phenotype: Rigidity (HP:0002063)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: FBXO28
Phenotype: Chorea (HP:0002072)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100 (OMIM:619777)
Gene: FBXO28
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: FBXO28
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100 (OMIM:619777)
Gene: FBXO28
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100 (OMIM:619777)
Gene: FBXO28
Phenotype: Status epilepticus (HP:0002133)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: FBXO28
Phenotype: Polymicrogyria (HP:0002126)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100 (OMIM:619777)
Gene: FBXO28
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100 (OMIM:619777)
Gene: FBXO28
Phenotype: Central sleep apnea (HP:0010536)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100 (OMIM:619777)
Gene: FBXO28
Phenotype: Impulsivity (HP:0100710)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: FBXO28
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100 (OMIM:619777)
Gene: FBXO28
Phenotype: Enlarged cisterna magna (HP:0002280)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100 (OMIM:619777)
Gene: FBXO28
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: FBXO28
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: FBXO28
Phenotype: Hemangioma (HP:0001028)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100 (OMIM:619777)
Gene: FBXO28
Phenotype: Developmental regression (HP:0002376)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: FBXO28
Phenotype: Developmental regression (HP:0002376)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100 (OMIM:619777)
Gene: FBXO28
Phenotype: Febrile seizure (within the age range of 3 months to 6 years) (HP:0002373)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100 (OMIM:619777)
Gene: FBXO28
Phenotype: Unsteady gait (HP:0002317)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: FBXO28
Phenotype: EEG with multifocal slow activity (HP:0010844)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: FBXO28
Phenotype: Dyskinesia (HP:0100660)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: FBXO28
Phenotype: Dyskinesia (HP:0100660)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100 (OMIM:619777)
Gene: FBXO28
Phenotype: Tented upper lip vermilion (HP:0010804)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100 (OMIM:619777)
Gene: FBXO28
Phenotype: Protruding tongue (HP:0010808)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100 (OMIM:619777)
Gene: FBXO28
Phenotype: Small hand (HP:0200055)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100 (OMIM:619777)
Gene: FBXO28
Phenotype: Drooling (HP:0002307)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100 (OMIM:619777)
Gene: FBXO28
Phenotype: Nystagmus (HP:0000639)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: FBXO28
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: FBXO28
Phenotype: Microdontia (HP:0000691)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100 (OMIM:619777)
Gene: FBXO28
Phenotype: Hypodontia (HP:0000668)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: FBXO28
Phenotype: Synophrys (HP:0000664)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100 (OMIM:619777)
Gene: FBXO28
Phenotype: Short stature (HP:0004322)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: FBXO28
Phenotype: Involuntary movements (HP:0004305)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: FBXO28
Phenotype: Thoracolumbar kyphosis (HP:0005619)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100 (OMIM:619777)
Gene: FBXO28
Phenotype: Bilateral camptodactyly (HP:0005617)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100 (OMIM:619777)
Gene: FBXO28
Phenotype: Short palpebral fissure (HP:0012745)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100 (OMIM:619777)
Gene: FBXO28
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100 (OMIM:619777)
Gene: FBXO28
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: FBXO28
Phenotype: Reduced brain N-acetyl aspartate level by MRS (HP:0012708)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100 (OMIM:619777)