TaoMedAI/RareMedData huggingface dataset:
Gene: TBC1D24
Phenotype: Absent fingernail (HP:0001817)
Associated disease: Autosomal recessive hearing loss-onychodystrophy syndrome; DOORS syndrome; Deafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome; Hearing loss-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome; Deafness-onychoosteodystrophy-intellectual disability syndrome; Hearing loss-onychodystrophy-osteodystrophy-intellectual disability syndrome; Deafness-onychodystrophy-osteodystrophy-intellectual disability syndrome; DOOR syndrome; Hearing loss-onychoosteodystrophy-intellectual disability syndrome; Autosomal recessive deafness-onychodystrophy syndrome (ORPHA:79500)
Gene: TBC1D24
Phenotype: Thrombocytosis (HP:0001894)
Associated disease: Autosomal recessive hearing loss-onychodystrophy syndrome; DOORS syndrome; Deafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome; Hearing loss-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome; Deafness-onychoosteodystrophy-intellectual disability syndrome; Hearing loss-onychodystrophy-osteodystrophy-intellectual disability syndrome; Deafness-onychodystrophy-osteodystrophy-intellectual disability syndrome; DOOR syndrome; Hearing loss-onychoosteodystrophy-intellectual disability syndrome; Autosomal recessive deafness-onychodystrophy syndrome (ORPHA:79500)
Gene: TBC1D24
Phenotype: Visual loss (HP:0000572)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 16 (OMIM:615338)
Gene: TBC1D24
Phenotype: Myopia (HP:0000545)
Associated disease: Autosomal recessive hearing loss-onychodystrophy syndrome; DOORS syndrome; Deafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome; Hearing loss-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome; Deafness-onychoosteodystrophy-intellectual disability syndrome; Hearing loss-onychodystrophy-osteodystrophy-intellectual disability syndrome; Deafness-onychodystrophy-osteodystrophy-intellectual disability syndrome; DOOR syndrome; Hearing loss-onychoosteodystrophy-intellectual disability syndrome; Autosomal recessive deafness-onychodystrophy syndrome (ORPHA:79500)
Gene: SCAF4
Phenotype: Meningocele (HP:0002435)
Associated disease: FLIEDNER-ZWEIER SYNDROME (OMIM:620511)
Gene: SCAF4
Phenotype: Hypertonia (HP:0001276)
Associated disease: FLIEDNER-ZWEIER SYNDROME (OMIM:620511)
Gene: SCAF4
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: FLIEDNER-ZWEIER SYNDROME (OMIM:620511)
Gene: SCAF4
Phenotype: Seizure (HP:0001250)
Associated disease: FLIEDNER-ZWEIER SYNDROME (OMIM:620511)
Gene: SCAF4
Phenotype: Hypotonia (HP:0001252)
Associated disease: FLIEDNER-ZWEIER SYNDROME (OMIM:620511)
Gene: SCAF4
Phenotype: Intellectual disability (HP:0001249)
Associated disease: FLIEDNER-ZWEIER SYNDROME (OMIM:620511)
Gene: SCAF4
Phenotype: Global developmental delay (HP:0001263)
Associated disease: FLIEDNER-ZWEIER SYNDROME (OMIM:620511)
Gene: SCAF4
Phenotype: Tracheoesophageal fistula (HP:0002575)
Associated disease: FLIEDNER-ZWEIER SYNDROME (OMIM:620511)
Gene: SCAF4
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: FLIEDNER-ZWEIER SYNDROME (OMIM:620511)
Gene: SCAF4
Phenotype: Multicystic kidney dysplasia (HP:0000003)
Associated disease: FLIEDNER-ZWEIER SYNDROME (OMIM:620511)
Gene: SCAF4
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: FLIEDNER-ZWEIER SYNDROME (OMIM:620511)
Gene: SCAF4
Phenotype: Scoliosis (HP:0002650)
Associated disease: FLIEDNER-ZWEIER SYNDROME (OMIM:620511)
Gene: SCAF4
Phenotype: Unilateral renal agenesis (HP:0000122)
Associated disease: FLIEDNER-ZWEIER SYNDROME (OMIM:620511)
Gene: SCAF4
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: FLIEDNER-ZWEIER SYNDROME (OMIM:620511)
Gene: SCAF4
Phenotype: Anal atresia (HP:0002023)
Associated disease: FLIEDNER-ZWEIER SYNDROME (OMIM:620511)
Gene: SCAF4
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: FLIEDNER-ZWEIER SYNDROME (OMIM:620511)
Gene: SCAF4
Phenotype: Tethered cord (HP:0002144)
Associated disease: FLIEDNER-ZWEIER SYNDROME (OMIM:620511)
Gene: SCAF4
Phenotype: Infantile onset (HP:0003593)
Associated disease: FLIEDNER-ZWEIER SYNDROME (OMIM:620511)
Gene: SCAF4
Phenotype: Congenital onset (HP:0003577)
Associated disease: FLIEDNER-ZWEIER SYNDROME (OMIM:620511)
Gene: SCAF4
Phenotype: Self-injurious behavior (HP:0100716)
Associated disease: FLIEDNER-ZWEIER SYNDROME (OMIM:620511)
Gene: SCAF4
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: FLIEDNER-ZWEIER SYNDROME (OMIM:620511)
Gene: SCAF4
Phenotype: Esodeviation (HP:0020045)
Associated disease: FLIEDNER-ZWEIER SYNDROME (OMIM:620511)
Gene: SCAF4
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: FLIEDNER-ZWEIER SYNDROME (OMIM:620511)
Gene: SCAF4
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: FLIEDNER-ZWEIER SYNDROME (OMIM:620511)
Gene: SCAF4
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: FLIEDNER-ZWEIER SYNDROME (OMIM:620511)
Gene: SCAF4
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: FLIEDNER-ZWEIER SYNDROME (OMIM:620511)
Gene: SCAF4
Phenotype: Autistic behavior (HP:0000729)
Associated disease: FLIEDNER-ZWEIER SYNDROME (OMIM:620511)
Gene: SCAF4
Phenotype: Childhood onset (HP:0011463)
Associated disease: FLIEDNER-ZWEIER SYNDROME (OMIM:620511)
Gene: SCAF4
Phenotype: Epicanthus (HP:0000286)
Associated disease: FLIEDNER-ZWEIER SYNDROME (OMIM:620511)
Gene: SCAF4
Phenotype: Kyphosis (HP:0002808)
Associated disease: FLIEDNER-ZWEIER SYNDROME (OMIM:620511)
Gene: SCAF4
Phenotype: Microcephaly (HP:0000252)
Associated disease: FLIEDNER-ZWEIER SYNDROME (OMIM:620511)
Gene: SCAF4
Phenotype: High palate (HP:0000218)
Associated disease: FLIEDNER-ZWEIER SYNDROME (OMIM:620511)
Gene: SCAF4
Phenotype: Obesity (HP:0001513)
Associated disease: FLIEDNER-ZWEIER SYNDROME (OMIM:620511)
Gene: SCAF4
Phenotype: Long philtrum (HP:0000343)
Associated disease: FLIEDNER-ZWEIER SYNDROME (OMIM:620511)
Gene: SCAF4
Phenotype: Hypoplastic aortic arch (HP:0012304)
Associated disease: FLIEDNER-ZWEIER SYNDROME (OMIM:620511)
Gene: SCAF4
Phenotype: Bicuspid aortic valve (HP:0001647)
Associated disease: FLIEDNER-ZWEIER SYNDROME (OMIM:620511)
Gene: SCAF4
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: FLIEDNER-ZWEIER SYNDROME (OMIM:620511)
Gene: SCAF4
Phenotype: Pes planus (HP:0001763)
Associated disease: FLIEDNER-ZWEIER SYNDROME (OMIM:620511)
Gene: SCAF4
Phenotype: Bulbous nose (HP:0000414)
Associated disease: FLIEDNER-ZWEIER SYNDROME (OMIM:620511)
Gene: SCAF4
Phenotype: Hallux valgus (HP:0001822)
Associated disease: FLIEDNER-ZWEIER SYNDROME (OMIM:620511)
Gene: SLC12A5
Phenotype: Excessive salivation (HP:0003781)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 34 (OMIM:616645)
Gene: SLC12A5
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 34 (OMIM:616645)
Gene: SLC12A5
Phenotype: Hypertonia (HP:0001276)
Associated disease: EIMFS; Malignant migrating partial epilepsy of infancy; MMPSI; MMPEI; Epilepsy of infancy with migrating focal seizures; MPEI; Epilepsy with migrating focal seizure in infancy; Malignant migrating partial seizures of infancy; MPSI; Migrating partial epilepsy of infancy; Migrating partial seizures of infancy (ORPHA:293181)
Gene: SLC12A5
Phenotype: Abnormal corpus callosum morphology (HP:0001273)
Associated disease: EIMFS; Malignant migrating partial epilepsy of infancy; MMPSI; MMPEI; Epilepsy of infancy with migrating focal seizures; MPEI; Epilepsy with migrating focal seizure in infancy; Malignant migrating partial seizures of infancy; MPSI; Migrating partial epilepsy of infancy; Migrating partial seizures of infancy (ORPHA:293181)
Gene: SLC12A5
Phenotype: Seizure (HP:0001250)
Associated disease: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 14 (OMIM:616685)
Gene: SLC12A5
Phenotype: Seizure (HP:0001250)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 34 (OMIM:616645)
Gene: SLC12A5
Phenotype: Hypotonia (HP:0001252)
Associated disease: EIMFS; Malignant migrating partial epilepsy of infancy; MMPSI; MMPEI; Epilepsy of infancy with migrating focal seizures; MPEI; Epilepsy with migrating focal seizure in infancy; Malignant migrating partial seizures of infancy; MPSI; Migrating partial epilepsy of infancy; Migrating partial seizures of infancy (ORPHA:293181)
Gene: SLC12A5
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 34 (OMIM:616645)
Gene: SLC12A5
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 34 (OMIM:616645)
Gene: SLC12A5
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 34 (OMIM:616645)
Gene: SLC12A5
Phenotype: Bilateral tonic-clonic seizure with focal onset (HP:0007334)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 34 (OMIM:616645)
Gene: SLC12A5
Phenotype: Bilateral tonic-clonic seizure with focal onset (HP:0007334)
Associated disease: EIMFS; Malignant migrating partial epilepsy of infancy; MMPSI; MMPEI; Epilepsy of infancy with migrating focal seizures; MPEI; Epilepsy with migrating focal seizure in infancy; Malignant migrating partial seizures of infancy; MPSI; Migrating partial epilepsy of infancy; Migrating partial seizures of infancy (ORPHA:293181)
Gene: SLC12A5
Phenotype: Inability to walk (HP:0002540)
Associated disease: EIMFS; Malignant migrating partial epilepsy of infancy; MMPSI; MMPEI; Epilepsy of infancy with migrating focal seizures; MPEI; Epilepsy with migrating focal seizure in infancy; Malignant migrating partial seizures of infancy; MPSI; Migrating partial epilepsy of infancy; Migrating partial seizures of infancy (ORPHA:293181)
Gene: SLC12A5
Phenotype: Inability to walk (HP:0002540)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 34 (OMIM:616645)
Gene: SLC12A5
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease: EIMFS; Malignant migrating partial epilepsy of infancy; MMPSI; MMPEI; Epilepsy of infancy with migrating focal seizures; MPEI; Epilepsy with migrating focal seizure in infancy; Malignant migrating partial seizures of infancy; MPSI; Migrating partial epilepsy of infancy; Migrating partial seizures of infancy (ORPHA:293181)
Gene: SLC12A5
Phenotype: Typified by incomplete penetrance (HP:0003829)
Associated disease: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 14 (OMIM:616685)
Gene: SLC12A5
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 34 (OMIM:616645)
Gene: SLC12A5
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 14 (OMIM:616685)
Gene: SLC12A5
Phenotype: Scoliosis (HP:0002650)
Associated disease: EIMFS; Malignant migrating partial epilepsy of infancy; MMPSI; MMPEI; Epilepsy of infancy with migrating focal seizures; MPEI; Epilepsy with migrating focal seizure in infancy; Malignant migrating partial seizures of infancy; MPSI; Migrating partial epilepsy of infancy; Migrating partial seizures of infancy (ORPHA:293181)
Gene: SLC12A5
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: EIMFS; Malignant migrating partial epilepsy of infancy; MMPSI; MMPEI; Epilepsy of infancy with migrating focal seizures; MPEI; Epilepsy with migrating focal seizure in infancy; Malignant migrating partial seizures of infancy; MPSI; Migrating partial epilepsy of infancy; Migrating partial seizures of infancy (ORPHA:293181)
Gene: SLC12A5
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 14 (OMIM:616685)
Gene: SLC12A5
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: EIMFS; Malignant migrating partial epilepsy of infancy; MMPSI; MMPEI; Epilepsy of infancy with migrating focal seizures; MPEI; Epilepsy with migrating focal seizure in infancy; Malignant migrating partial seizures of infancy; MPSI; Migrating partial epilepsy of infancy; Migrating partial seizures of infancy (ORPHA:293181)
Gene: SLC12A5
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: EIMFS; Malignant migrating partial epilepsy of infancy; MMPSI; MMPEI; Epilepsy of infancy with migrating focal seizures; MPEI; Epilepsy with migrating focal seizure in infancy; Malignant migrating partial seizures of infancy; MPSI; Migrating partial epilepsy of infancy; Migrating partial seizures of infancy (ORPHA:293181)
Gene: SLC12A5
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 34 (OMIM:616645)
Gene: SLC12A5
Phenotype: Generalized myoclonic seizure (HP:0002123)
Associated disease: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 14 (OMIM:616685)
Gene: SLC12A5
Phenotype: Generalized non-motor (absence) seizure (HP:0002121)
Associated disease: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 14 (OMIM:616685)
Gene: SLC12A5
Phenotype: Status epilepticus (HP:0002133)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 34 (OMIM:616645)
Gene: SLC12A5
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 34 (OMIM:616645)
Gene: SLC12A5
Phenotype: Infantile onset (HP:0003593)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 34 (OMIM:616645)
Gene: SLC12A5
Phenotype: Focal impaired awareness seizure (HP:0002384)
Associated disease: EIMFS; Malignant migrating partial epilepsy of infancy; MMPSI; MMPEI; Epilepsy of infancy with migrating focal seizures; MPEI; Epilepsy with migrating focal seizure in infancy; Malignant migrating partial seizures of infancy; MPSI; Migrating partial epilepsy of infancy; Migrating partial seizures of infancy (ORPHA:293181)
Gene: SLC12A5
Phenotype: Developmental regression (HP:0002376)
Associated disease: EIMFS; Malignant migrating partial epilepsy of infancy; MMPSI; MMPEI; Epilepsy of infancy with migrating focal seizures; MPEI; Epilepsy with migrating focal seizure in infancy; Malignant migrating partial seizures of infancy; MPSI; Migrating partial epilepsy of infancy; Migrating partial seizures of infancy (ORPHA:293181)
Gene: SLC12A5
Phenotype: Developmental regression (HP:0002376)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 34 (OMIM:616645)
Gene: SLC12A5
Phenotype: Febrile seizure (within the age range of 3 months to 6 years) (HP:0002373)
Associated disease: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 14 (OMIM:616685)
Gene: SLC12A5
Phenotype: Multifocal epileptiform discharges (HP:0010841)
Associated disease: EIMFS; Malignant migrating partial epilepsy of infancy; MMPSI; MMPEI; Epilepsy of infancy with migrating focal seizures; MPEI; Epilepsy with migrating focal seizure in infancy; Malignant migrating partial seizures of infancy; MPSI; Migrating partial epilepsy of infancy; Migrating partial seizures of infancy (ORPHA:293181)
Gene: SLC12A5
Phenotype: Focal emotional seizure with laughing (HP:0010821)
Associated disease: EIMFS; Malignant migrating partial epilepsy of infancy; MMPSI; MMPEI; Epilepsy of infancy with migrating focal seizures; MPEI; Epilepsy with migrating focal seizure in infancy; Malignant migrating partial seizures of infancy; MPSI; Migrating partial epilepsy of infancy; Migrating partial seizures of infancy (ORPHA:293181)
Gene: SLC12A5
Phenotype: Juvenile onset (HP:0003621)
Associated disease: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 14 (OMIM:616685)
Gene: SLC12A5
Phenotype: Aortopulmonary collateral arteries (HP:0031834)
Associated disease: EIMFS; Malignant migrating partial epilepsy of infancy; MMPSI; MMPEI; Epilepsy of infancy with migrating focal seizures; MPEI; Epilepsy with migrating focal seizure in infancy; Malignant migrating partial seizures of infancy; MPSI; Migrating partial epilepsy of infancy; Migrating partial seizures of infancy (ORPHA:293181)
Gene: SLC12A5
Phenotype: Focal hemiclonic seizure (HP:0006813)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 34 (OMIM:616645)
Gene: SLC12A5
Phenotype: Focal hemiclonic seizure (HP:0006813)
Associated disease: EIMFS; Malignant migrating partial epilepsy of infancy; MMPSI; MMPEI; Epilepsy of infancy with migrating focal seizures; MPEI; Epilepsy with migrating focal seizure in infancy; Malignant migrating partial seizures of infancy; MPSI; Migrating partial epilepsy of infancy; Migrating partial seizures of infancy (ORPHA:293181)
Gene: SLC12A5
Phenotype: Functional motor deficit (HP:0004302)
Associated disease: EIMFS; Malignant migrating partial epilepsy of infancy; MMPSI; MMPEI; Epilepsy of infancy with migrating focal seizures; MPEI; Epilepsy with migrating focal seizure in infancy; Malignant migrating partial seizures of infancy; MPSI; Migrating partial epilepsy of infancy; Migrating partial seizures of infancy (ORPHA:293181)
Gene: SLC12A5
Phenotype: Childhood onset (HP:0011463)
Associated disease: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 14 (OMIM:616685)
Gene: SLC12A5
Phenotype: Neurodevelopmental delay (HP:0012758)
Associated disease: EIMFS; Malignant migrating partial epilepsy of infancy; MMPSI; MMPEI; Epilepsy of infancy with migrating focal seizures; MPEI; Epilepsy with migrating focal seizure in infancy; Malignant migrating partial seizures of infancy; MPSI; Migrating partial epilepsy of infancy; Migrating partial seizures of infancy (ORPHA:293181)
Gene: SLC12A5
Phenotype: Precocious puberty (HP:0000826)
Associated disease: EIMFS; Malignant migrating partial epilepsy of infancy; MMPSI; MMPEI; Epilepsy of infancy with migrating focal seizures; MPEI; Epilepsy with migrating focal seizure in infancy; Malignant migrating partial seizures of infancy; MPSI; Migrating partial epilepsy of infancy; Migrating partial seizures of infancy (ORPHA:293181)
Gene: SLC12A5
Phenotype: Microcephaly (HP:0000252)
Associated disease: EIMFS; Malignant migrating partial epilepsy of infancy; MMPSI; MMPEI; Epilepsy of infancy with migrating focal seizures; MPEI; Epilepsy with migrating focal seizure in infancy; Malignant migrating partial seizures of infancy; MPSI; Migrating partial epilepsy of infancy; Migrating partial seizures of infancy (ORPHA:293181)
Gene: SLC12A5
Phenotype: Failure to thrive (HP:0001508)
Associated disease: EIMFS; Malignant migrating partial epilepsy of infancy; MMPSI; MMPEI; Epilepsy of infancy with migrating focal seizures; MPEI; Epilepsy with migrating focal seizure in infancy; Malignant migrating partial seizures of infancy; MPSI; Migrating partial epilepsy of infancy; Migrating partial seizures of infancy (ORPHA:293181)
Gene: SLC12A5
Phenotype: Epileptic spasm (HP:0011097)
Associated disease: EIMFS; Malignant migrating partial epilepsy of infancy; MMPSI; MMPEI; Epilepsy of infancy with migrating focal seizures; MPEI; Epilepsy with migrating focal seizure in infancy; Malignant migrating partial seizures of infancy; MPSI; Migrating partial epilepsy of infancy; Migrating partial seizures of infancy (ORPHA:293181)
Gene: SLC12A5
Phenotype: Myoclonic seizure (HP:0032794)
Associated disease: EIMFS; Malignant migrating partial epilepsy of infancy; MMPSI; MMPEI; Epilepsy of infancy with migrating focal seizures; MPEI; Epilepsy with migrating focal seizure in infancy; Malignant migrating partial seizures of infancy; MPSI; Migrating partial epilepsy of infancy; Migrating partial seizures of infancy (ORPHA:293181)
Gene: SLC12A5
Phenotype: Delayed myelination (HP:0012448)
Associated disease: EIMFS; Malignant migrating partial epilepsy of infancy; MMPSI; MMPEI; Epilepsy of infancy with migrating focal seizures; MPEI; Epilepsy with migrating focal seizure in infancy; Malignant migrating partial seizures of infancy; MPSI; Migrating partial epilepsy of infancy; Migrating partial seizures of infancy (ORPHA:293181)
Gene: SLC12A5
Phenotype: Intermediate young adult onset (HP:0025709)
Associated disease: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 14 (OMIM:616685)
Gene: SLC12A5
Phenotype: Secondary microcephaly (HP:0005484)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 34 (OMIM:616645)
Gene: SLC12A5
Phenotype: Visual impairment (HP:0000505)
Associated disease: EIMFS; Malignant migrating partial epilepsy of infancy; MMPSI; MMPEI; Epilepsy of infancy with migrating focal seizures; MPEI; Epilepsy with migrating focal seizure in infancy; Malignant migrating partial seizures of infancy; MPSI; Migrating partial epilepsy of infancy; Migrating partial seizures of infancy (ORPHA:293181)
Gene: SHROOM4
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: X-linked intellectual disability, Stocco Dos Santos type (ORPHA:85288)
Gene: SHROOM4
Phenotype: Seizure (HP:0001250)
Associated disease: X-linked intellectual disability, Stocco Dos Santos type (ORPHA:85288)
Gene: SHROOM4
Phenotype: Congenital bilateral hip dislocation (HP:0008780)
Associated disease: X-linked intellectual disability, Stocco Dos Santos type (ORPHA:85288)
Gene: SHROOM4
Phenotype: Absent speech (HP:0001344)
Associated disease: X-linked intellectual disability, Stocco Dos Santos type (ORPHA:85288)
Gene: SHROOM4
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: X-linked intellectual disability, Stocco Dos Santos type (ORPHA:85288)
Gene: SHROOM4
Phenotype: Hirsutism (HP:0001007)
Associated disease: X-linked intellectual disability, Stocco Dos Santos type (ORPHA:85288)
Gene: SHROOM4
Phenotype: Short stature (HP:0004322)
Associated disease: X-linked intellectual disability, Stocco Dos Santos type (ORPHA:85288)
Gene: SHROOM4
Phenotype: Hyperactivity (HP:0000752)
Associated disease: X-linked intellectual disability, Stocco Dos Santos type (ORPHA:85288)
Gene: SHROOM4
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: X-linked intellectual disability, Stocco Dos Santos type (ORPHA:85288)
Gene: SHROOM4
Phenotype: Increased serum serotonin (HP:0003144)
Associated disease: X-linked intellectual disability, Stocco Dos Santos type (ORPHA:85288)
Gene: SHROOM4
Phenotype: Epicanthus (HP:0000286)
Associated disease: X-linked intellectual disability, Stocco Dos Santos type (ORPHA:85288)
Gene: SHROOM4
Phenotype: Kyphosis (HP:0002808)
Associated disease: X-linked intellectual disability, Stocco Dos Santos type (ORPHA:85288)
Gene: SHROOM4
Phenotype: Small for gestational age (HP:0001518)
Associated disease: X-linked intellectual disability, Stocco Dos Santos type (ORPHA:85288)
Gene: SHROOM4
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: X-linked intellectual disability, Stocco Dos Santos type (ORPHA:85288)
Gene: SHROOM4
Phenotype: Strabismus (HP:0000486)
Associated disease: X-linked intellectual disability, Stocco Dos Santos type (ORPHA:85288)
Gene: SHROOM4
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: X-linked intellectual disability, Stocco Dos Santos type (ORPHA:85288)
Gene: SHROOM4
Phenotype: Cataract (HP:0000518)
Associated disease: X-linked intellectual disability, Stocco Dos Santos type (ORPHA:85288)
Gene: PRR12
Phenotype: Unilateral deafness (HP:0009900)
Associated disease: NEUROOCULAR SYNDROME 1 (OMIM:619539)
Gene: PRR12
Phenotype: Hyperextensibility of the finger joints (HP:0001187)
Associated disease: NEUROOCULAR SYNDROME 1 (OMIM:619539)
Gene: PRR12
Phenotype: Tapered finger (HP:0001182)
Associated disease: NEUROOCULAR SYNDROME 1 (OMIM:619539)
Gene: PRR12
Phenotype: Anterior creases of earlobe (HP:0009908)
Associated disease: NEUROOCULAR SYNDROME 1 (OMIM:619539)
Gene: PRR12
Phenotype: Motor delay (HP:0001270)
Associated disease: NEUROOCULAR SYNDROME 1 (OMIM:619539)
Gene: PRR12
Phenotype: Intellectual disability (HP:0001249)
Associated disease: NEUROOCULAR SYNDROME 1 (OMIM:619539)
Gene: PRR12
Phenotype: Global developmental delay (HP:0001263)
Associated disease: NEUROOCULAR SYNDROME 1 (OMIM:619539)
Gene: PRR12
Phenotype: Prominent fingertip pads (HP:0001212)
Associated disease: NEUROOCULAR SYNDROME 1 (OMIM:619539)
Gene: PRR12
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: NEUROOCULAR SYNDROME 1 (OMIM:619539)
Gene: PRR12
Phenotype: Brisk reflexes (HP:0001348)
Associated disease: NEUROOCULAR SYNDROME 1 (OMIM:619539)
Gene: PRR12
Phenotype: Deep palmar crease (HP:0006191)
Associated disease: NEUROOCULAR SYNDROME 1 (OMIM:619539)