TaoMedAI/RareMedData huggingface dataset:
Gene: CLPB
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: Autosomal dominant severe congenital neutropenia (ORPHA:486)
Gene: CLPB
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE VII (OMIM:616271)
Gene: CLPB
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: MGA-neonatal cataract-neurologic involvement-congenital neutropenia syndrome; 3-methylglutaconic aciduria type 7; MGA7; 3-methylglutaconic aciduria-neonatal cataract-neurologic involvement-congenital neutropenia syndrome (ORPHA:445038)
Gene: APOLD1
Phenotype: Livedo reticularis (HP:0033505)
Associated disease: BLEEDING DISORDER, VASCULAR-TYPE (OMIM:620715)
Gene: APOLD1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: BLEEDING DISORDER, VASCULAR-TYPE (OMIM:620715)
Gene: APOLD1
Phenotype: Prolonged bleeding after dental extraction (HP:0006298)
Associated disease: BLEEDING DISORDER, VASCULAR-TYPE (OMIM:620715)
Gene: APOLD1
Phenotype: Menorrhagia (HP:0000132)
Associated disease: BLEEDING DISORDER, VASCULAR-TYPE (OMIM:620715)
Gene: APOLD1
Phenotype: Gastrointestinal hemorrhage (HP:0002239)
Associated disease: BLEEDING DISORDER, VASCULAR-TYPE (OMIM:620715)
Gene: APOLD1
Phenotype: Childhood onset (HP:0011463)
Associated disease: BLEEDING DISORDER, VASCULAR-TYPE (OMIM:620715)
Gene: APOLD1
Phenotype: Raynaud phenomenon (HP:0030880)
Associated disease: BLEEDING DISORDER, VASCULAR-TYPE (OMIM:620715)
Gene: APOLD1
Phenotype: Oral bleeding (HP:0040184)
Associated disease: BLEEDING DISORDER, VASCULAR-TYPE (OMIM:620715)
Gene: APOLD1
Phenotype: Epistaxis (HP:0000421)
Associated disease: BLEEDING DISORDER, VASCULAR-TYPE (OMIM:620715)
Gene: TRIM8
Phenotype: Atypical absence seizure (HP:0007270)
Associated disease: FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME (OMIM:619428)
Gene: TRIM8
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME (OMIM:619428)
Gene: TRIM8
Phenotype: EEG with burst suppression (HP:0010851)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: TRIM8
Phenotype: EEG with spike-wave complexes (HP:0010850)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: TRIM8
Phenotype: Poor head control (HP:0002421)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: TRIM8
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: TRIM8
Phenotype: Lethargy (HP:0001254)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: TRIM8
Phenotype: Seizure (HP:0001250)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: TRIM8
Phenotype: Seizure (HP:0001250)
Associated disease: FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME (OMIM:619428)
Gene: TRIM8
Phenotype: Hypotonia (HP:0001252)
Associated disease: FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME (OMIM:619428)
Gene: TRIM8
Phenotype: Ataxia (HP:0001251)
Associated disease: FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME (OMIM:619428)
Gene: TRIM8
Phenotype: Intellectual disability (HP:0001249)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: TRIM8
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME (OMIM:619428)
Gene: TRIM8
Phenotype: Choreoathetosis (HP:0001266)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: TRIM8
Phenotype: Global developmental delay (HP:0001263)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: TRIM8
Phenotype: Global developmental delay (HP:0001263)
Associated disease: FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME (OMIM:619428)
Gene: TRIM8
Phenotype: Spasticity (HP:0001257)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: TRIM8
Phenotype: EEG with parietal epileptiform discharges (HP:0033719)
Associated disease: FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME (OMIM:619428)
Gene: TRIM8
Phenotype: No social interaction (HP:0008763)
Associated disease: FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME (OMIM:619428)
Gene: TRIM8
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: TRIM8
Phenotype: Bilateral tonic-clonic seizure with focal onset (HP:0007334)
Associated disease: FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME (OMIM:619428)
Gene: TRIM8
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease: FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME (OMIM:619428)
Gene: TRIM8
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: TRIM8
Phenotype: Diffuse cerebral atrophy (HP:0002506)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: TRIM8
Phenotype: Glomerulonephritis (HP:0000099)
Associated disease: FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME (OMIM:619428)
Gene: TRIM8
Phenotype: Glomerular sclerosis (HP:0000096)
Associated disease: FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME (OMIM:619428)
Gene: TRIM8
Phenotype: Proteinuria (HP:0000093)
Associated disease: FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME (OMIM:619428)
Gene: TRIM8
Phenotype: Ureterocele (HP:0000070)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: TRIM8
Phenotype: Delayed ability to sit (HP:0025336)
Associated disease: FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME (OMIM:619428)
Gene: TRIM8
Phenotype: Micropenis (HP:0000054)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: TRIM8
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME (OMIM:619428)
Gene: TRIM8
Phenotype: Hypospadias (HP:0000047)
Associated disease: FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME (OMIM:619428)
Gene: TRIM8
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: TRIM8
Phenotype: Dystonia (HP:0001332)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: TRIM8
Phenotype: EEG with occipital epileptiform discharges (HP:0033720)
Associated disease: FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME (OMIM:619428)
Gene: TRIM8
Phenotype: Absent speech (HP:0001344)
Associated disease: FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME (OMIM:619428)
Gene: TRIM8
Phenotype: Tremor (HP:0001337)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: TRIM8
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME (OMIM:619428)
Gene: TRIM8
Phenotype: Myoclonus (HP:0001336)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: TRIM8
Phenotype: Pachygyria (HP:0001302)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: TRIM8
Phenotype: Cleft palate (HP:0000175)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: TRIM8
Phenotype: Floppy infant (HP:0008947)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: TRIM8
Phenotype: Nephrotic syndrome (HP:0000100)
Associated disease: FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME (OMIM:619428)
Gene: TRIM8
Phenotype: Renal dysplasia (HP:0000110)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: TRIM8
Phenotype: Poor suck (HP:0002033)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: TRIM8
Phenotype: Dysphagia (HP:0002015)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: TRIM8
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME (OMIM:619428)
Gene: TRIM8
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: TRIM8
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: TRIM8
Phenotype: Generalized myoclonic seizure (HP:0002123)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: TRIM8
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME (OMIM:619428)
Gene: TRIM8
Phenotype: Generalized non-motor (absence) seizure (HP:0002121)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: TRIM8
Phenotype: Episodic ataxia (HP:0002131)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: TRIM8
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME (OMIM:619428)
Gene: TRIM8
Phenotype: Self-injurious behavior (HP:0100716)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: TRIM8
Phenotype: Fine hair (HP:0002213)
Associated disease: FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME (OMIM:619428)
Gene: TRIM8
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: TRIM8
Phenotype: Epileptic encephalopathy (HP:0200134)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: TRIM8
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: TRIM8
Phenotype: Focal impaired awareness seizure (HP:0002384)
Associated disease: FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME (OMIM:619428)
Gene: TRIM8
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: TRIM8
Phenotype: Developmental regression (HP:0002376)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: TRIM8
Phenotype: Febrile seizure (within the age range of 3 months to 6 years) (HP:0002373)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: TRIM8
Phenotype: EEG abnormality (HP:0002353)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: TRIM8
Phenotype: Head tremor (HP:0002346)
Associated disease: FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME (OMIM:619428)
Gene: TRIM8
Phenotype: Diffuse white matter abnormalities (HP:0007204)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: TRIM8
Phenotype: Dyskinesia (HP:0100660)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: TRIM8
Phenotype: Atonic seizure (HP:0010819)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: TRIM8
Phenotype: Generalized tonic seizure (HP:0010818)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: TRIM8
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME (OMIM:619428)
Gene: TRIM8
Phenotype: Synophrys (HP:0000664)
Associated disease: FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME (OMIM:619428)
Gene: TRIM8
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME (OMIM:619428)
Gene: TRIM8
Phenotype: Hyperactivity (HP:0000752)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: TRIM8
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME (OMIM:619428)
Gene: TRIM8
Phenotype: Autistic behavior (HP:0000729)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: TRIM8
Phenotype: Broad phalanx of the toes (HP:0010174)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: TRIM8
Phenotype: Reduced eye contact (HP:0000817)
Associated disease: FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME (OMIM:619428)
Gene: TRIM8
Phenotype: Precocious puberty (HP:0000826)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: TRIM8
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME (OMIM:619428)
Gene: TRIM8
Phenotype: Short finger (HP:0009381)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: TRIM8
Phenotype: Hip dislocation (HP:0002827)
Associated disease: FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME (OMIM:619428)
Gene: TRIM8
Phenotype: Microcephaly (HP:0000252)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: TRIM8
Phenotype: Microcephaly (HP:0000252)
Associated disease: FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME (OMIM:619428)
Gene: TRIM8
Phenotype: Gingival overgrowth (HP:0000212)
Associated disease: FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME (OMIM:619428)
Gene: TRIM8
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: TRIM8
Phenotype: Failure to thrive (HP:0001508)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: TRIM8
Phenotype: Broad finger (HP:0001500)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: TRIM8
Phenotype: Growth delay (HP:0001510)
Associated disease: FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME (OMIM:619428)
Gene: TRIM8
Phenotype: Sloping forehead (HP:0000340)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: TRIM8
Phenotype: Long philtrum (HP:0000343)
Associated disease: FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME (OMIM:619428)
Gene: TRIM8
Phenotype: Tonic seizure (HP:0032792)
Associated disease: FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME (OMIM:619428)
Gene: TRIM8
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME (OMIM:619428)
Gene: TRIM8
Phenotype: Continuous spike and waves during slow sleep (HP:0031491)
Associated disease: FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME (OMIM:619428)
Gene: TRIM8
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: TRIM8
Phenotype: Uni- and bilateral multifocal epileptiform discharges (HP:0011190)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: TRIM8
Phenotype: Generalized clonic seizure (HP:0011169)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: TRIM8
Phenotype: Focal tonic seizure (HP:0011167)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: TRIM8
Phenotype: Focal motor seizure (HP:0011153)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: TRIM8
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: TRIM8
Phenotype: Strabismus (HP:0000486)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: TRIM8
Phenotype: Infantile spasms (HP:0012469)
Associated disease: FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME (OMIM:619428)
Gene: TRIM8
Phenotype: Infantile spasms (HP:0012469)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: TRIM8
Phenotype: Deeply set eye (HP:0000490)
Associated disease: FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME (OMIM:619428)
Gene: TRIM8
Phenotype: Anteverted nares (HP:0000463)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: TRIM8
Phenotype: Delayed myelination (HP:0012448)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: TRIM8
Phenotype: Chronic constipation (HP:0012450)
Associated disease: FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME (OMIM:619428)
Gene: TRIM8
Phenotype: Absent thumbnail (HP:0012554)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: NECTIN4
Phenotype: Pili torti (HP:0003777)
Associated disease: ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1 (OMIM:613573)
Gene: NECTIN4
Phenotype: Absent facial hair (HP:0002550)
Associated disease: ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1 (OMIM:613573)
Gene: NECTIN4
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1 (OMIM:613573)
Gene: NECTIN4
Phenotype: Enamel hypoplasia (HP:0006297)
Associated disease: ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1 (OMIM:613573)
Gene: NECTIN4
Phenotype: 4-5 toe syndactyly (HP:0004692)
Associated disease: ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1 (OMIM:613573)
Gene: NECTIN4
Phenotype: Heat intolerance (HP:0002046)
Associated disease: ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1 (OMIM:613573)
Gene: NECTIN4
Phenotype: Cutaneous finger syndactyly (HP:0010554)
Associated disease: ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1 (OMIM:613573)
Gene: NECTIN4
Phenotype: Congenital onset (HP:0003577)
Associated disease: ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1 (OMIM:613573)
Gene: NECTIN4
Phenotype: Patchy alopecia (HP:0002232)
Associated disease: ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1 (OMIM:613573)
Gene: NECTIN4
Phenotype: Sparse scalp hair (HP:0002209)
Associated disease: ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1 (OMIM:613573)
Gene: NECTIN4
Phenotype: Coarse hair (HP:0002208)
Associated disease: ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1 (OMIM:613573)
Gene: NECTIN4
Phenotype: 2-4 finger cutaneous syndactyly (HP:0010709)
Associated disease: ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1 (OMIM:613573)
Gene: NECTIN4
Phenotype: Palmar hyperkeratosis (HP:0010765)
Associated disease: ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1 (OMIM:613573)