TaoMedAI/RareMedData huggingface dataset:
Gene: STX5
Phenotype: Hypercholesterolemia (HP:0003124)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIaa (OMIM:620454)
Gene: STX5
Phenotype: Elevated circulating alkaline phosphatase concentration (HP:0003155)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIaa (OMIM:620454)
Gene: STX5
Phenotype: Patent ductus arteriosus after premature birth (HP:0011649)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIaa (OMIM:620454)
Gene: STX5
Phenotype: Knee flexion contracture (HP:0006380)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIaa (OMIM:620454)
Gene: STX5
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIaa (OMIM:620454)
Gene: STX5
Phenotype: Bilateral talipes equinovarus (HP:0001776)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIaa (OMIM:620454)
Gene: STXBP1
Phenotype: Impaired horizontal smooth pursuit (HP:0001151)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 4 (OMIM:612164)
Gene: STXBP1
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: Deletion 9q33.3q34.11; Monosomy 9q33.3q34.11; Del(9)(q33.3q34.11); 9q33.3q34.11 microdeletion syndrome (ORPHA:495818)
Gene: STXBP1
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 4 (OMIM:612164)
Gene: STXBP1
Phenotype: EEG with burst suppression (HP:0010851)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 4 (OMIM:612164)
Gene: STXBP1
Phenotype: Motor delay (HP:0001270)
Associated disease: Deletion 9q33.3q34.11; Monosomy 9q33.3q34.11; Del(9)(q33.3q34.11); 9q33.3q34.11 microdeletion syndrome (ORPHA:495818)
Gene: STXBP1
Phenotype: Spastic tetraparesis (HP:0001285)
Associated disease: Deletion 9q33.3q34.11; Monosomy 9q33.3q34.11; Del(9)(q33.3q34.11); 9q33.3q34.11 microdeletion syndrome (ORPHA:495818)
Gene: STXBP1
Phenotype: Seizure (HP:0001250)
Associated disease: STXBP1-related encephalopathy (ORPHA:599373)
Gene: STXBP1
Phenotype: Seizure (HP:0001250)
Associated disease: Deletion 9q33.3q34.11; Monosomy 9q33.3q34.11; Del(9)(q33.3q34.11); 9q33.3q34.11 microdeletion syndrome (ORPHA:495818)
Gene: STXBP1
Phenotype: Hypotonia (HP:0001252)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 4 (OMIM:612164)
Gene: STXBP1
Phenotype: Hypotonia (HP:0001252)
Associated disease: STXBP1-related encephalopathy (ORPHA:599373)
Gene: STXBP1
Phenotype: Ataxia (HP:0001251)
Associated disease: STXBP1-related encephalopathy (ORPHA:599373)
Gene: STXBP1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: STXBP1-related encephalopathy (ORPHA:599373)
Gene: STXBP1
Phenotype: Choreoathetosis (HP:0001266)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 4 (OMIM:612164)
Gene: STXBP1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: STXBP1-related encephalopathy (ORPHA:599373)
Gene: STXBP1
Phenotype: Spastic paraplegia (HP:0001258)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 4 (OMIM:612164)
Gene: STXBP1
Phenotype: Spasticity (HP:0001257)
Associated disease: STXBP1-related encephalopathy (ORPHA:599373)
Gene: STXBP1
Phenotype: Bilateral tonic-clonic seizure with focal onset (HP:0007334)
Associated disease: STXBP1-related encephalopathy (ORPHA:599373)
Gene: STXBP1
Phenotype: Inability to walk (HP:0002540)
Associated disease: Deletion 9q33.3q34.11; Monosomy 9q33.3q34.11; Del(9)(q33.3q34.11); 9q33.3q34.11 microdeletion syndrome (ORPHA:495818)
Gene: STXBP1
Phenotype: Inability to walk (HP:0002540)
Associated disease: STXBP1-related encephalopathy (ORPHA:599373)
Gene: STXBP1
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: Deletion 9q33.3q34.11; Monosomy 9q33.3q34.11; Del(9)(q33.3q34.11); 9q33.3q34.11 microdeletion syndrome (ORPHA:495818)
Gene: STXBP1
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 4 (OMIM:612164)
Gene: STXBP1
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease: STXBP1-related encephalopathy (ORPHA:599373)
Gene: STXBP1
Phenotype: Abnormal periventricular white matter morphology (HP:0002518)
Associated disease: Deletion 9q33.3q34.11; Monosomy 9q33.3q34.11; Del(9)(q33.3q34.11); 9q33.3q34.11 microdeletion syndrome (ORPHA:495818)
Gene: STXBP1
Phenotype: Spastic tetraplegia (HP:0002510)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 4 (OMIM:612164)
Gene: STXBP1
Phenotype: Spastic tetraplegia (HP:0002510)
Associated disease: STXBP1-related encephalopathy (ORPHA:599373)
Gene: STXBP1
Phenotype: Abnormality of the kidney (HP:0000077)
Associated disease: Deletion 9q33.3q34.11; Monosomy 9q33.3q34.11; Del(9)(q33.3q34.11); 9q33.3q34.11 microdeletion syndrome (ORPHA:495818)
Gene: STXBP1
Phenotype: Small scrotum (HP:0000046)
Associated disease: Deletion 9q33.3q34.11; Monosomy 9q33.3q34.11; Del(9)(q33.3q34.11); 9q33.3q34.11 microdeletion syndrome (ORPHA:495818)
Gene: STXBP1
Phenotype: Micropenis (HP:0000054)
Associated disease: Deletion 9q33.3q34.11; Monosomy 9q33.3q34.11; Del(9)(q33.3q34.11); 9q33.3q34.11 microdeletion syndrome (ORPHA:495818)
Gene: STXBP1
Phenotype: Plagiocephaly (HP:0001357)
Associated disease: Deletion 9q33.3q34.11; Monosomy 9q33.3q34.11; Del(9)(q33.3q34.11); 9q33.3q34.11 microdeletion syndrome (ORPHA:495818)
Gene: STXBP1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Deletion 9q33.3q34.11; Monosomy 9q33.3q34.11; Del(9)(q33.3q34.11); 9q33.3q34.11 microdeletion syndrome (ORPHA:495818)
Gene: STXBP1
Phenotype: Dystonia (HP:0001332)
Associated disease: STXBP1-related encephalopathy (ORPHA:599373)
Gene: STXBP1
Phenotype: Absent speech (HP:0001344)
Associated disease: STXBP1-related encephalopathy (ORPHA:599373)
Gene: STXBP1
Phenotype: Absent speech (HP:0001344)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 4 (OMIM:612164)
Gene: STXBP1
Phenotype: Tremor (HP:0001337)
Associated disease: STXBP1-related encephalopathy (ORPHA:599373)
Gene: STXBP1
Phenotype: Tremor (HP:0001337)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 4 (OMIM:612164)
Gene: STXBP1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 4 (OMIM:612164)
Gene: STXBP1
Phenotype: Narrow mouth (HP:0000160)
Associated disease: Deletion 9q33.3q34.11; Monosomy 9q33.3q34.11; Del(9)(q33.3q34.11); 9q33.3q34.11 microdeletion syndrome (ORPHA:495818)
Gene: STXBP1
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: Deletion 9q33.3q34.11; Monosomy 9q33.3q34.11; Del(9)(q33.3q34.11); 9q33.3q34.11 microdeletion syndrome (ORPHA:495818)
Gene: STXBP1
Phenotype: Constipation (HP:0002019)
Associated disease: Deletion 9q33.3q34.11; Monosomy 9q33.3q34.11; Del(9)(q33.3q34.11); 9q33.3q34.11 microdeletion syndrome (ORPHA:495818)
Gene: STXBP1
Phenotype: Large forehead (HP:0002003)
Associated disease: Deletion 9q33.3q34.11; Monosomy 9q33.3q34.11; Del(9)(q33.3q34.11); 9q33.3q34.11 microdeletion syndrome (ORPHA:495818)
Gene: STXBP1
Phenotype: Dysphagia (HP:0002015)
Associated disease: Deletion 9q33.3q34.11; Monosomy 9q33.3q34.11; Del(9)(q33.3q34.11); 9q33.3q34.11 microdeletion syndrome (ORPHA:495818)
Gene: STXBP1
Phenotype: Asthma (HP:0002099)
Associated disease: Deletion 9q33.3q34.11; Monosomy 9q33.3q34.11; Del(9)(q33.3q34.11); 9q33.3q34.11 microdeletion syndrome (ORPHA:495818)
Gene: STXBP1
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 4 (OMIM:612164)
Gene: STXBP1
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 4 (OMIM:612164)
Gene: STXBP1
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 4 (OMIM:612164)
Gene: STXBP1
Phenotype: Generalized myoclonic seizure (HP:0002123)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 4 (OMIM:612164)
Gene: STXBP1
Phenotype: Generalized myoclonic seizure (HP:0002123)
Associated disease: STXBP1-related encephalopathy (ORPHA:599373)
Gene: STXBP1
Phenotype: Status epilepticus (HP:0002133)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 4 (OMIM:612164)
Gene: STXBP1
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: Deletion 9q33.3q34.11; Monosomy 9q33.3q34.11; Del(9)(q33.3q34.11); 9q33.3q34.11 microdeletion syndrome (ORPHA:495818)
Gene: STXBP1
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 4 (OMIM:612164)
Gene: STXBP1
Phenotype: Intellectual disability, profound (HP:0002187)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 4 (OMIM:612164)
Gene: STXBP1
Phenotype: Nail dysplasia (HP:0002164)
Associated disease: Deletion 9q33.3q34.11; Monosomy 9q33.3q34.11; Del(9)(q33.3q34.11); 9q33.3q34.11 microdeletion syndrome (ORPHA:495818)
Gene: STXBP1
Phenotype: Tented philtrum (HP:0011825)
Associated disease: Deletion 9q33.3q34.11; Monosomy 9q33.3q34.11; Del(9)(q33.3q34.11); 9q33.3q34.11 microdeletion syndrome (ORPHA:495818)
Gene: STXBP1
Phenotype: Broad chin (HP:0011822)
Associated disease: Deletion 9q33.3q34.11; Monosomy 9q33.3q34.11; Del(9)(q33.3q34.11); 9q33.3q34.11 microdeletion syndrome (ORPHA:495818)
Gene: STXBP1
Phenotype: Infantile onset (HP:0003593)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 4 (OMIM:612164)
Gene: STXBP1
Phenotype: Abnormal hair pattern (HP:0010720)
Associated disease: Deletion 9q33.3q34.11; Monosomy 9q33.3q34.11; Del(9)(q33.3q34.11); 9q33.3q34.11 microdeletion syndrome (ORPHA:495818)
Gene: STXBP1
Phenotype: Epileptic encephalopathy (HP:0200134)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 4 (OMIM:612164)
Gene: STXBP1
Phenotype: Epileptic encephalopathy (HP:0200134)
Associated disease: STXBP1-related encephalopathy (ORPHA:599373)
Gene: STXBP1
Phenotype: Bilateral coxa valga (HP:0010665)
Associated disease: Deletion 9q33.3q34.11; Monosomy 9q33.3q34.11; Del(9)(q33.3q34.11); 9q33.3q34.11 microdeletion syndrome (ORPHA:495818)
Gene: STXBP1
Phenotype: Focal impaired awareness seizure (HP:0002384)
Associated disease: STXBP1-related encephalopathy (ORPHA:599373)
Gene: STXBP1
Phenotype: Developmental regression (HP:0002376)
Associated disease: STXBP1-related encephalopathy (ORPHA:599373)
Gene: STXBP1
Phenotype: Developmental regression (HP:0002376)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 4 (OMIM:612164)
Gene: STXBP1
Phenotype: Telangiectasia (HP:0001009)
Associated disease: Deletion 9q33.3q34.11; Monosomy 9q33.3q34.11; Del(9)(q33.3q34.11); 9q33.3q34.11 microdeletion syndrome (ORPHA:495818)
Gene: STXBP1
Phenotype: Multifocal epileptiform discharges (HP:0010841)
Associated disease: STXBP1-related encephalopathy (ORPHA:599373)
Gene: STXBP1
Phenotype: Dyskinesia (HP:0100660)
Associated disease: STXBP1-related encephalopathy (ORPHA:599373)
Gene: STXBP1
Phenotype: Atonic seizure (HP:0010819)
Associated disease: STXBP1-related encephalopathy (ORPHA:599373)
Gene: STXBP1
Phenotype: Generalized tonic seizure (HP:0010818)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 4 (OMIM:612164)
Gene: STXBP1
Phenotype: Abnormal shape of the palpebral fissure (HP:0200005)
Associated disease: Deletion 9q33.3q34.11; Monosomy 9q33.3q34.11; Del(9)(q33.3q34.11); 9q33.3q34.11 microdeletion syndrome (ORPHA:495818)
Gene: STXBP1
Phenotype: Esophagitis (HP:0100633)
Associated disease: Deletion 9q33.3q34.11; Monosomy 9q33.3q34.11; Del(9)(q33.3q34.11); 9q33.3q34.11 microdeletion syndrome (ORPHA:495818)
Gene: STXBP1
Phenotype: Infantile encephalopathy (HP:0007105)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 4 (OMIM:612164)
Gene: STXBP1
Phenotype: Neonatal onset (HP:0003623)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 4 (OMIM:612164)
Gene: STXBP1
Phenotype: Cerebellar vermis atrophy (HP:0006855)
Associated disease: Deletion 9q33.3q34.11; Monosomy 9q33.3q34.11; Del(9)(q33.3q34.11); 9q33.3q34.11 microdeletion syndrome (ORPHA:495818)
Gene: STXBP1
Phenotype: Cerebral hypomyelination (HP:0006808)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 4 (OMIM:612164)
Gene: STXBP1
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 4 (OMIM:612164)
Gene: STXBP1
Phenotype: Dysplastic corpus callosum (HP:0006989)
Associated disease: STXBP1-related encephalopathy (ORPHA:599373)
Gene: STXBP1
Phenotype: Patellar hypoplasia (HP:0003065)
Associated disease: Deletion 9q33.3q34.11; Monosomy 9q33.3q34.11; Del(9)(q33.3q34.11); 9q33.3q34.11 microdeletion syndrome (ORPHA:495818)
Gene: STXBP1
Phenotype: Hyperactivity (HP:0000752)
Associated disease: STXBP1-related encephalopathy (ORPHA:599373)
Gene: STXBP1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Deletion 9q33.3q34.11; Monosomy 9q33.3q34.11; Del(9)(q33.3q34.11); 9q33.3q34.11 microdeletion syndrome (ORPHA:495818)
Gene: STXBP1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: STXBP1-related encephalopathy (ORPHA:599373)
Gene: STXBP1
Phenotype: Autistic behavior (HP:0000729)
Associated disease: STXBP1-related encephalopathy (ORPHA:599373)
Gene: STXBP1
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Deletion 9q33.3q34.11; Monosomy 9q33.3q34.11; Del(9)(q33.3q34.11); 9q33.3q34.11 microdeletion syndrome (ORPHA:495818)
Gene: STXBP1
Phenotype: Cerebral white matter atrophy (HP:0012762)
Associated disease: STXBP1-related encephalopathy (ORPHA:599373)
Gene: STXBP1
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: Deletion 9q33.3q34.11; Monosomy 9q33.3q34.11; Del(9)(q33.3q34.11); 9q33.3q34.11 microdeletion syndrome (ORPHA:495818)
Gene: STXBP1
Phenotype: Full cheeks (HP:0000293)
Associated disease: Deletion 9q33.3q34.11; Monosomy 9q33.3q34.11; Del(9)(q33.3q34.11); 9q33.3q34.11 microdeletion syndrome (ORPHA:495818)
Gene: STXBP1
Phenotype: Fixed elbow flexion (HP:0006471)
Associated disease: Deletion 9q33.3q34.11; Monosomy 9q33.3q34.11; Del(9)(q33.3q34.11); 9q33.3q34.11 microdeletion syndrome (ORPHA:495818)
Gene: STXBP1
Phenotype: Patellar aplasia (HP:0006443)
Associated disease: Deletion 9q33.3q34.11; Monosomy 9q33.3q34.11; Del(9)(q33.3q34.11); 9q33.3q34.11 microdeletion syndrome (ORPHA:495818)
Gene: STXBP1
Phenotype: Microcephaly (HP:0000252)
Associated disease: Deletion 9q33.3q34.11; Monosomy 9q33.3q34.11; Del(9)(q33.3q34.11); 9q33.3q34.11 microdeletion syndrome (ORPHA:495818)
Gene: STXBP1
Phenotype: Brachycephaly (HP:0000248)
Associated disease: Deletion 9q33.3q34.11; Monosomy 9q33.3q34.11; Del(9)(q33.3q34.11); 9q33.3q34.11 microdeletion syndrome (ORPHA:495818)
Gene: STXBP1
Phenotype: Thin vermilion border (HP:0000233)
Associated disease: Deletion 9q33.3q34.11; Monosomy 9q33.3q34.11; Del(9)(q33.3q34.11); 9q33.3q34.11 microdeletion syndrome (ORPHA:495818)
Gene: STXBP1
Phenotype: Epileptic spasm (HP:0011097)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 4 (OMIM:612164)
Gene: STXBP1
Phenotype: Epileptic spasm (HP:0011097)
Associated disease: STXBP1-related encephalopathy (ORPHA:599373)
Gene: STXBP1
Phenotype: Abnormal pinna morphology (HP:0000377)
Associated disease: Deletion 9q33.3q34.11; Monosomy 9q33.3q34.11; Del(9)(q33.3q34.11); 9q33.3q34.11 microdeletion syndrome (ORPHA:495818)
Gene: STXBP1
Phenotype: Low-set ears (HP:0000369)
Associated disease: Deletion 9q33.3q34.11; Monosomy 9q33.3q34.11; Del(9)(q33.3q34.11); 9q33.3q34.11 microdeletion syndrome (ORPHA:495818)
Gene: STXBP1
Phenotype: Patellar dislocation (HP:0002999)
Associated disease: Deletion 9q33.3q34.11; Monosomy 9q33.3q34.11; Del(9)(q33.3q34.11); 9q33.3q34.11 microdeletion syndrome (ORPHA:495818)
Gene: STXBP1
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: Deletion 9q33.3q34.11; Monosomy 9q33.3q34.11; Del(9)(q33.3q34.11); 9q33.3q34.11 microdeletion syndrome (ORPHA:495818)
Gene: STXBP1
Phenotype: Round face (HP:0000311)
Associated disease: Deletion 9q33.3q34.11; Monosomy 9q33.3q34.11; Del(9)(q33.3q34.11); 9q33.3q34.11 microdeletion syndrome (ORPHA:495818)
Gene: STXBP1
Phenotype: EEG with focal epileptiform discharges (HP:0011185)
Associated disease: STXBP1-related encephalopathy (ORPHA:599373)
Gene: STXBP1
Phenotype: Focal motor seizure (HP:0011153)
Associated disease: STXBP1-related encephalopathy (ORPHA:599373)
Gene: STXBP1
Phenotype: Astigmatism (HP:0000483)
Associated disease: Deletion 9q33.3q34.11; Monosomy 9q33.3q34.11; Del(9)(q33.3q34.11); 9q33.3q34.11 microdeletion syndrome (ORPHA:495818)
Gene: STXBP1
Phenotype: Strabismus (HP:0000486)
Associated disease: Deletion 9q33.3q34.11; Monosomy 9q33.3q34.11; Del(9)(q33.3q34.11); 9q33.3q34.11 microdeletion syndrome (ORPHA:495818)
Gene: STXBP1
Phenotype: Infantile spasms (HP:0012469)
Associated disease: STXBP1-related encephalopathy (ORPHA:599373)
Gene: STXBP1
Phenotype: Delayed myelination (HP:0012448)
Associated disease: STXBP1-related encephalopathy (ORPHA:599373)
Gene: STXBP1
Phenotype: Short neck (HP:0000470)
Associated disease: Deletion 9q33.3q34.11; Monosomy 9q33.3q34.11; Del(9)(q33.3q34.11); 9q33.3q34.11 microdeletion syndrome (ORPHA:495818)
Gene: STXBP1
Phenotype: Webbed neck (HP:0000465)
Associated disease: Deletion 9q33.3q34.11; Monosomy 9q33.3q34.11; Del(9)(q33.3q34.11); 9q33.3q34.11 microdeletion syndrome (ORPHA:495818)
Gene: STXBP1
Phenotype: Wide nose (HP:0000445)
Associated disease: Deletion 9q33.3q34.11; Monosomy 9q33.3q34.11; Del(9)(q33.3q34.11); 9q33.3q34.11 microdeletion syndrome (ORPHA:495818)
Gene: STXBP1
Phenotype: Bulbous nose (HP:0000414)
Associated disease: Deletion 9q33.3q34.11; Monosomy 9q33.3q34.11; Del(9)(q33.3q34.11); 9q33.3q34.11 microdeletion syndrome (ORPHA:495818)
Gene: STXBP1
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: Deletion 9q33.3q34.11; Monosomy 9q33.3q34.11; Del(9)(q33.3q34.11); 9q33.3q34.11 microdeletion syndrome (ORPHA:495818)
Gene: STXBP1
Phenotype: Epistaxis (HP:0000421)
Associated disease: Deletion 9q33.3q34.11; Monosomy 9q33.3q34.11; Del(9)(q33.3q34.11); 9q33.3q34.11 microdeletion syndrome (ORPHA:495818)
Gene: STXBP1
Phenotype: Prominent metopic ridge (HP:0005487)
Associated disease: Deletion 9q33.3q34.11; Monosomy 9q33.3q34.11; Del(9)(q33.3q34.11); 9q33.3q34.11 microdeletion syndrome (ORPHA:495818)
Gene: STXBP1
Phenotype: Telecanthus (HP:0000506)
Associated disease: Deletion 9q33.3q34.11; Monosomy 9q33.3q34.11; Del(9)(q33.3q34.11); 9q33.3q34.11 microdeletion syndrome (ORPHA:495818)
Gene: STXBP1
Phenotype: EEG with abnormally slow frequencies (HP:0011203)
Associated disease: STXBP1-related encephalopathy (ORPHA:599373)
Gene: STXBP2
Phenotype: Low-frequency sensorineural hearing impairment (HP:0008573)
Associated disease: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5 (OMIM:613101)
Gene: STXBP2
Phenotype: Seizure (HP:0001250)
Associated disease: Familial hemophagocytic lymphohistiocytosis; Familial HLH (ORPHA:540)
Gene: STXBP2
Phenotype: Colitis (HP:0002583)
Associated disease: Familial hemophagocytic lymphohistiocytosis; Familial HLH (ORPHA:540)
Gene: STXBP2
Phenotype: Colitis (HP:0002583)
Associated disease: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5 (OMIM:613101)
Gene: STXBP2
Phenotype: Coma (HP:0001259)
Associated disease: Familial hemophagocytic lymphohistiocytosis; Familial HLH (ORPHA:540)
Gene: STXBP2
Phenotype: Abnormal cerebral white matter morphology (HP:0002500)
Associated disease: Familial hemophagocytic lymphohistiocytosis; Familial HLH (ORPHA:540)
Gene: STXBP2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5 (OMIM:613101)
Gene: STXBP2
Phenotype: Cholestatic liver disease (HP:0002611)
Associated disease: Familial hemophagocytic lymphohistiocytosis; Familial HLH (ORPHA:540)
Gene: STXBP2
Phenotype: Abnormal natural killer cell physiology (HP:0012177)
Associated disease: Familial hemophagocytic lymphohistiocytosis; Familial HLH (ORPHA:540)
Gene: STXBP2
Phenotype: Abnormal natural killer cell physiology (HP:0012177)
Associated disease: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5 (OMIM:613101)
Gene: STXBP2
Phenotype: Hemophagocytosis (HP:0012156)
Associated disease: Familial hemophagocytic lymphohistiocytosis; Familial HLH (ORPHA:540)
Gene: STXBP2
Phenotype: Hemophagocytosis (HP:0012156)
Associated disease: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5 (OMIM:613101)
Gene: STXBP2
Phenotype: Abnormality of multiple cell lineages in the bone marrow (HP:0012145)
Associated disease: Familial hemophagocytic lymphohistiocytosis; Familial HLH (ORPHA:540)
Gene: STXBP2
Phenotype: Recurrent upper respiratory tract infections (HP:0002788)
Associated disease: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5 (OMIM:613101)
Gene: STXBP2
Phenotype: Hepatosplenomegaly (HP:0001433)
Associated disease: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5 (OMIM:613101)
Gene: STXBP2
Phenotype: Decreased liver function (HP:0001410)
Associated disease: Familial hemophagocytic lymphohistiocytosis; Familial HLH (ORPHA:540)
Gene: STXBP2
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: Familial hemophagocytic lymphohistiocytosis; Familial HLH (ORPHA:540)
Gene: STXBP2
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5 (OMIM:613101)
Gene: STXBP2
Phenotype: Abnormality of the respiratory system (HP:0002086)
Associated disease: Familial hemophagocytic lymphohistiocytosis; Familial HLH (ORPHA:540)
Gene: STXBP2
Phenotype: Hypertriglyceridemia (HP:0002155)
Associated disease: Familial hemophagocytic lymphohistiocytosis; Familial HLH (ORPHA:540)
Gene: STXBP2
Phenotype: Hypertriglyceridemia (HP:0002155)
Associated disease: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5 (OMIM:613101)
Gene: STXBP2
Phenotype: Hypofibrinogenemia (HP:0011900)
Associated disease: Familial hemophagocytic lymphohistiocytosis; Familial HLH (ORPHA:540)
Gene: STXBP2
Phenotype: Infantile onset (HP:0003593)
Associated disease: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5 (OMIM:613101)
Gene: STXBP2
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Familial hemophagocytic lymphohistiocytosis; Familial HLH (ORPHA:540)
Gene: STXBP2
Phenotype: Infectious encephalitis (HP:0002383)
Associated disease: Familial hemophagocytic lymphohistiocytosis; Familial HLH (ORPHA:540)
Gene: STXBP2
Phenotype: Erythroderma (HP:0001019)
Associated disease: Familial hemophagocytic lymphohistiocytosis; Familial HLH (ORPHA:540)
Gene: STXBP2
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: Familial hemophagocytic lymphohistiocytosis; Familial HLH (ORPHA:540)
Gene: STXBP2
Phenotype: Fever (HP:0001945)
Associated disease: Familial hemophagocytic lymphohistiocytosis; Familial HLH (ORPHA:540)
Gene: STXBP2
Phenotype: Fever (HP:0001945)
Associated disease: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5 (OMIM:613101)
Gene: STXBP2
Phenotype: Recurrent fever (HP:0001954)
Associated disease: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5 (OMIM:613101)
Gene: STXBP2
Phenotype: Anemia (HP:0001903)
Associated disease: Familial hemophagocytic lymphohistiocytosis; Familial HLH (ORPHA:540)
Gene: STXBP2
Phenotype: Anemia (HP:0001903)
Associated disease: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5 (OMIM:613101)
Gene: STXBP2
Phenotype: Functional motor deficit (HP:0004302)
Associated disease: Familial hemophagocytic lymphohistiocytosis; Familial HLH (ORPHA:540)
Gene: STXBP2
Phenotype: Decreased circulating immunoglobulin concentration (HP:0004313)
Associated disease: Familial hemophagocytic lymphohistiocytosis; Familial HLH (ORPHA:540)
Gene: STXBP2
Phenotype: Decreased circulating immunoglobulin concentration (HP:0004313)
Associated disease: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5 (OMIM:613101)
Gene: STXBP2
Phenotype: Hypoalbuminemia (HP:0003073)
Associated disease: Familial hemophagocytic lymphohistiocytosis; Familial HLH (ORPHA:540)
Gene: STXBP2
Phenotype: Abnormality of the nervous system (HP:0000707)
Associated disease: Familial hemophagocytic lymphohistiocytosis; Familial HLH (ORPHA:540)
Gene: STXBP2
Phenotype: Childhood onset (HP:0011463)
Associated disease: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5 (OMIM:613101)