TaoMedAI/RareMedData huggingface dataset:
Gene: MAPRE2
Phenotype: Wide intermamillary distance (HP:0006610)
Associated disease: SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2 (OMIM:616734)
Gene: MAPRE2
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2 (OMIM:616734)
Gene: MAPRE2
Phenotype: Strabismus (HP:0000486)
Associated disease: SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2 (OMIM:616734)
Gene: MAPRE2
Phenotype: Microcornea (HP:0000482)
Associated disease: SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2 (OMIM:616734)
Gene: MAPRE2
Phenotype: Microcornea (HP:0000482)
Associated disease: Circumferential skin creases, Kunze type; Multiple benign circumferential skin creases on limbs; Congenital circumferential skin folds; Kunze-Riehm syndrome; CCSF (ORPHA:2505)
Gene: MAPRE2
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2 (OMIM:616734)
Gene: MAPRE2
Phenotype: Retinopathy (HP:0000488)
Associated disease: Circumferential skin creases, Kunze type; Multiple benign circumferential skin creases on limbs; Congenital circumferential skin folds; Kunze-Riehm syndrome; CCSF (ORPHA:2505)
Gene: MAPRE2
Phenotype: Broad neck (HP:0000475)
Associated disease: SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2 (OMIM:616734)
Gene: MAPRE2
Phenotype: Short neck (HP:0000470)
Associated disease: SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2 (OMIM:616734)
Gene: MAPRE2
Phenotype: Pes planus (HP:0001763)
Associated disease: SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2 (OMIM:616734)
Gene: MAPRE2
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2 (OMIM:616734)
Gene: MAPRE2
Phenotype: Localized neuroblastoma (HP:0006768)
Associated disease: Circumferential skin creases, Kunze type; Multiple benign circumferential skin creases on limbs; Congenital circumferential skin folds; Kunze-Riehm syndrome; CCSF (ORPHA:2505)
Gene: MAPRE2
Phenotype: Ptosis (HP:0000508)
Associated disease: SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2 (OMIM:616734)
Gene: MAPRE2
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2 (OMIM:616734)
Gene: MAPRE2
Phenotype: Blepharophimosis (HP:0000581)
Associated disease: SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2 (OMIM:616734)
Gene: MAPRE2
Phenotype: Microphthalmia (HP:0000568)
Associated disease: SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2 (OMIM:616734)
Gene: MAPRE2
Phenotype: Microphthalmia (HP:0000568)
Associated disease: Circumferential skin creases, Kunze type; Multiple benign circumferential skin creases on limbs; Congenital circumferential skin folds; Kunze-Riehm syndrome; CCSF (ORPHA:2505)
Gene: KCNQ1OT1
Phenotype: Myelomeningocele (HP:0002475)
Associated disease: Hemi 3 syndrome; Hemicorporal hypertrophy; Isolated hemihypertrophy; Isolated hemihyperplasia (ORPHA:2128)
Gene: KCNQ1OT1
Phenotype: Impaired pain sensation (HP:0007328)
Associated disease: Hemi 3 syndrome; Hemicorporal hypertrophy; Isolated hemihypertrophy; Isolated hemihyperplasia (ORPHA:2128)
Gene: KCNQ1OT1
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: Hemi 3 syndrome; Hemicorporal hypertrophy; Isolated hemihypertrophy; Isolated hemihyperplasia (ORPHA:2128)
Gene: KCNQ1OT1
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: BECKWITH-WIEDEMANN SYNDROME (OMIM:130650)
Gene: KCNQ1OT1
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: Hemi 3 syndrome; Hemicorporal hypertrophy; Isolated hemihypertrophy; Isolated hemihyperplasia (ORPHA:2128)
Gene: KCNQ1OT1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Hemi 3 syndrome; Hemicorporal hypertrophy; Isolated hemihypertrophy; Isolated hemihyperplasia (ORPHA:2128)
Gene: KCNQ1OT1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: BECKWITH-WIEDEMANN SYNDROME (OMIM:130650)
Gene: KCNQ1OT1
Phenotype: Nephroblastoma (HP:0002667)
Associated disease: Hemi 3 syndrome; Hemicorporal hypertrophy; Isolated hemihypertrophy; Isolated hemihyperplasia (ORPHA:2128)
Gene: KCNQ1OT1
Phenotype: Nephroblastoma (HP:0002667)
Associated disease: BECKWITH-WIEDEMANN SYNDROME (OMIM:130650)
Gene: KCNQ1OT1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: BECKWITH-WIEDEMANN SYNDROME (OMIM:130650)
Gene: KCNQ1OT1
Phenotype: Dandy-Walker malformation (HP:0001305)
Associated disease: BECKWITH-WIEDEMANN SYNDROME (OMIM:130650)
Gene: KCNQ1OT1
Phenotype: Scoliosis (HP:0002650)
Associated disease: Hemi 3 syndrome; Hemicorporal hypertrophy; Isolated hemihypertrophy; Isolated hemihyperplasia (ORPHA:2128)
Gene: KCNQ1OT1
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: Hemi 3 syndrome; Hemicorporal hypertrophy; Isolated hemihypertrophy; Isolated hemihyperplasia (ORPHA:2128)
Gene: KCNQ1OT1
Phenotype: Macroglossia (HP:0000158)
Associated disease: BECKWITH-WIEDEMANN SYNDROME (OMIM:130650)
Gene: KCNQ1OT1
Phenotype: Gonadoblastoma (HP:0000150)
Associated disease: BECKWITH-WIEDEMANN SYNDROME (OMIM:130650)
Gene: KCNQ1OT1
Phenotype: Pancreatic hyperplasia (HP:0006277)
Associated disease: BECKWITH-WIEDEMANN SYNDROME (OMIM:130650)
Gene: KCNQ1OT1
Phenotype: Nephrocalcinosis (HP:0000121)
Associated disease: BECKWITH-WIEDEMANN SYNDROME (OMIM:130650)
Gene: KCNQ1OT1
Phenotype: Enlarged kidney (HP:0000105)
Associated disease: BECKWITH-WIEDEMANN SYNDROME (OMIM:130650)
Gene: KCNQ1OT1
Phenotype: Midface retrusion (HP:0011800)
Associated disease: BECKWITH-WIEDEMANN SYNDROME (OMIM:130650)
Gene: KCNQ1OT1
Phenotype: Adrenocortical cytomegaly (HP:0008186)
Associated disease: BECKWITH-WIEDEMANN SYNDROME (OMIM:130650)
Gene: KCNQ1OT1
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: BECKWITH-WIEDEMANN SYNDROME (OMIM:130650)
Gene: KCNQ1OT1
Phenotype: Nevus flammeus (HP:0001052)
Associated disease: BECKWITH-WIEDEMANN SYNDROME (OMIM:130650)
Gene: KCNQ1OT1
Phenotype: Posterior helix pit (HP:0008523)
Associated disease: BECKWITH-WIEDEMANN SYNDROME (OMIM:130650)
Gene: KCNQ1OT1
Phenotype: Placental mesenchymal dysplasia (HP:0032165)
Associated disease: BECKWITH-WIEDEMANN SYNDROME (OMIM:130650)
Gene: KCNQ1OT1
Phenotype: Neonatal hypoglycemia (HP:0001998)
Associated disease: BECKWITH-WIEDEMANN SYNDROME (OMIM:130650)
Gene: KCNQ1OT1
Phenotype: Accelerated skeletal maturation (HP:0005616)
Associated disease: BECKWITH-WIEDEMANN SYNDROME (OMIM:130650)
Gene: KCNQ1OT1
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: Hemi 3 syndrome; Hemicorporal hypertrophy; Isolated hemihypertrophy; Isolated hemihyperplasia (ORPHA:2128)
Gene: KCNQ1OT1
Phenotype: Renal cortical cysts (HP:0000803)
Associated disease: BECKWITH-WIEDEMANN SYNDROME (OMIM:130650)
Gene: KCNQ1OT1
Phenotype: Nephrolithiasis (HP:0000787)
Associated disease: BECKWITH-WIEDEMANN SYNDROME (OMIM:130650)
Gene: KCNQ1OT1
Phenotype: Overgrowth of external genitalia (HP:0003247)
Associated disease: BECKWITH-WIEDEMANN SYNDROME (OMIM:130650)
Gene: KCNQ1OT1
Phenotype: Coarse facial features (HP:0000280)
Associated disease: BECKWITH-WIEDEMANN SYNDROME (OMIM:130650)
Gene: KCNQ1OT1
Phenotype: Prominent occiput (HP:0000269)
Associated disease: BECKWITH-WIEDEMANN SYNDROME (OMIM:130650)
Gene: KCNQ1OT1
Phenotype: Large fontanelles (HP:0000239)
Associated disease: BECKWITH-WIEDEMANN SYNDROME (OMIM:130650)
Gene: KCNQ1OT1
Phenotype: Hepatoblastoma (HP:0002884)
Associated disease: BECKWITH-WIEDEMANN SYNDROME (OMIM:130650)
Gene: KCNQ1OT1
Phenotype: Overgrowth (HP:0001548)
Associated disease: BECKWITH-WIEDEMANN SYNDROME (OMIM:130650)
Gene: KCNQ1OT1
Phenotype: Asymmetry of the thorax (HP:0001555)
Associated disease: Hemi 3 syndrome; Hemicorporal hypertrophy; Isolated hemihypertrophy; Isolated hemihyperplasia (ORPHA:2128)
Gene: KCNQ1OT1
Phenotype: Hemihypertrophy (HP:0001528)
Associated disease: BECKWITH-WIEDEMANN SYNDROME (OMIM:130650)
Gene: KCNQ1OT1
Phenotype: Hemihypertrophy (HP:0001528)
Associated disease: Hemi 3 syndrome; Hemicorporal hypertrophy; Isolated hemihypertrophy; Isolated hemihyperplasia (ORPHA:2128)
Gene: KCNQ1OT1
Phenotype: Diastasis recti (HP:0001540)
Associated disease: BECKWITH-WIEDEMANN SYNDROME (OMIM:130650)
Gene: KCNQ1OT1
Phenotype: Omphalocele (HP:0001539)
Associated disease: BECKWITH-WIEDEMANN SYNDROME (OMIM:130650)
Gene: KCNQ1OT1
Phenotype: Facial asymmetry (HP:0000324)
Associated disease: Hemi 3 syndrome; Hemicorporal hypertrophy; Isolated hemihypertrophy; Isolated hemihyperplasia (ORPHA:2128)
Gene: KCNQ1OT1
Phenotype: Cardiomegaly (HP:0001640)
Associated disease: BECKWITH-WIEDEMANN SYNDROME (OMIM:130650)
Gene: KCNQ1OT1
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: BECKWITH-WIEDEMANN SYNDROME (OMIM:130650)
Gene: KCNQ1OT1
Phenotype: Adrenocortical carcinoma (HP:0006744)
Associated disease: BECKWITH-WIEDEMANN SYNDROME (OMIM:130650)
Gene: KCNQ1OT1
Phenotype: Prominent metopic ridge (HP:0005487)
Associated disease: BECKWITH-WIEDEMANN SYNDROME (OMIM:130650)
Gene: KCNQ1OT1
Phenotype: Proptosis (HP:0000520)
Associated disease: BECKWITH-WIEDEMANN SYNDROME (OMIM:130650)
Gene: SLC38A3
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: SLC38A3
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: SLC38A3
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: SLC38A3
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: SLC38A3
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: SLC38A3
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: SLC38A3
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: SLC38A3
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: SLC38A3
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: SLC38A3
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 102 (OMIM:619881)
Gene: SLC38A3
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: SLC38A3
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: SLC38A3
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 102 (OMIM:619881)
Gene: SLC38A3
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: SLC38A3
Phenotype: Bilateral tonic-clonic seizure with focal onset (HP:0007334)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 102 (OMIM:619881)
Gene: SLC38A3
Phenotype: Inability to walk (HP:0002540)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 102 (OMIM:619881)
Gene: SLC38A3
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: SLC38A3
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: SLC38A3
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 102 (OMIM:619881)
Gene: SLC38A3
Phenotype: Absent speech (HP:0001344)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 102 (OMIM:619881)
Gene: SLC38A3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 102 (OMIM:619881)
Gene: SLC38A3
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: SLC38A3
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: SLC38A3
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: SLC38A3
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 102 (OMIM:619881)
Gene: SLC38A3
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: SLC38A3
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 102 (OMIM:619881)
Gene: SLC38A3
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 102 (OMIM:619881)
Gene: SLC38A3
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: SLC38A3
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: SLC38A3
Phenotype: Generalized myoclonic seizure (HP:0002123)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 102 (OMIM:619881)
Gene: SLC38A3
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: SLC38A3
Phenotype: Infantile onset (HP:0003593)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 102 (OMIM:619881)
Gene: SLC38A3
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 102 (OMIM:619881)
Gene: SLC38A3
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: SLC38A3
Phenotype: Epileptic encephalopathy (HP:0200134)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 102 (OMIM:619881)
Gene: SLC38A3
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: SLC38A3
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: SLC38A3
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: SLC38A3
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: SLC38A3
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: SLC38A3
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: SLC38A3
Phenotype: Focal emotional seizure with laughing (HP:0010821)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 102 (OMIM:619881)
Gene: SLC38A3
Phenotype: Neonatal onset (HP:0003623)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 102 (OMIM:619881)
Gene: SLC38A3
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: SLC38A3
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: SLC38A3
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: SLC38A3
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: SLC38A3
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: SLC38A3
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: SLC38A3
Phenotype: Autism (HP:0000717)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SLC38A3
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SLC38A3
Phenotype: Atypical behavior (HP:0000708)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 102 (OMIM:619881)
Gene: SLC38A3
Phenotype: Childhood onset (HP:0011463)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 102 (OMIM:619881)
Gene: SLC38A3
Phenotype: Abnormality of coordination (HP:0011443)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SLC38A3
Phenotype: Microcephaly (HP:0000252)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SLC38A3
Phenotype: Microcephaly (HP:0000252)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 102 (OMIM:619881)
Gene: SLC38A3
Phenotype: Focal motor status epilepticus (HP:0032663)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 102 (OMIM:619881)
Gene: SLC38A3
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SLC38A3
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SLC38A3
Phenotype: Situs inversus totalis (HP:0001696)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 102 (OMIM:619881)
Gene: SLC38A3
Phenotype: Tonic seizure (HP:0032792)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 102 (OMIM:619881)
Gene: SLC38A3
Phenotype: High forehead (HP:0000348)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SLC38A3
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 102 (OMIM:619881)
Gene: SLC38A3
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SLC38A3
Phenotype: Brain atrophy (HP:0012444)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SLC38A3
Phenotype: Abnormal myelination (HP:0012447)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SLC38A3
Phenotype: Chronic constipation (HP:0012450)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 102 (OMIM:619881)
Gene: SLC38A3
Phenotype: Ptosis (HP:0000508)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SLC38A3
Phenotype: Visual impairment (HP:0000505)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 102 (OMIM:619881)
Gene: SLC38A3
Phenotype: Abnormality of vision (HP:0000504)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SLC38A3
Phenotype: Abnormal involuntary eye movements (HP:0012547)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SLC38A3
Phenotype: Retinal degeneration (HP:0000546)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SF3B2
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SF3B2
Phenotype: Limbal dermoid (HP:0001140)
Associated disease: HEMIFACIAL MICROSOMIA (OMIM:164210)
Gene: SF3B2
Phenotype: Unilateral external ear deformity (HP:0008605)
Associated disease: HEMIFACIAL MICROSOMIA (OMIM:164210)
Gene: SF3B2
Phenotype: Partial duplication of thumb phalanx (HP:0009944)
Associated disease: HEMIFACIAL MICROSOMIA (OMIM:164210)
Gene: SF3B2
Phenotype: Anotia (HP:0009892)
Associated disease: HEMIFACIAL MICROSOMIA (OMIM:164210)