TaoMedAI/RareMedData huggingface dataset:
Gene: IFITM5
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: IFITM5
Phenotype: Vertebral compression fracture (HP:0002953)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: IFITM5
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFITM5
Phenotype: Pointed chin (HP:0000307)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: IFITM5
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IFITM5
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: IFITM5
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFITM5
Phenotype: Anteverted nares (HP:0000463)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: IFITM5
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFITM5
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFITM5
Phenotype: Pes planus (HP:0001763)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE V (OMIM:610967)
Gene: IFITM5
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFITM5
Phenotype: Hyperplastic callus formation (HP:0030268)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE V (OMIM:610967)
Gene: IFITM5
Phenotype: Bilateral talipes equinovarus (HP:0001776)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: IFITM5
Phenotype: Cataract (HP:0000518)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: IFITM5
Phenotype: Cataract (HP:0000518)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: IFITM5
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFITM5
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IFITM5
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFITM5
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFITM5
Phenotype: Blue sclerae (HP:0000592)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE V (OMIM:610967)
Gene: IFITM5
Phenotype: Shallow orbits (HP:0000586)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: IFITM5
Phenotype: Microphthalmia (HP:0000568)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: IFITM5
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFITM5
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IFITM5
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: IFITM5
Phenotype: Myopia (HP:0000545)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: LIPT2
Phenotype: Simplified gyral pattern (HP:0009879)
Associated disease: ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES (OMIM:617668)
Gene: LIPT2
Phenotype: Encephalopathy (HP:0001298)
Associated disease: ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES (OMIM:617668)
Gene: LIPT2
Phenotype: Spastic tetraparesis (HP:0001285)
Associated disease: ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES (OMIM:617668)
Gene: LIPT2
Phenotype: Seizure (HP:0001250)
Associated disease: ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES (OMIM:617668)
Gene: LIPT2
Phenotype: Hypotonia (HP:0001252)
Associated disease: ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES (OMIM:617668)
Gene: LIPT2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES (OMIM:617668)
Gene: LIPT2
Phenotype: Dystonia (HP:0001332)
Associated disease: ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES (OMIM:617668)
Gene: LIPT2
Phenotype: Absent speech (HP:0001344)
Associated disease: ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES (OMIM:617668)
Gene: LIPT2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES (OMIM:617668)
Gene: LIPT2
Phenotype: Diminished alpha-ketoglutarate dehydrogenase activity in cultured fibroblasts (HP:6000830)
Associated disease: ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES (OMIM:617668)
Gene: LIPT2
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES (OMIM:617668)
Gene: LIPT2
Phenotype: Hyperalaninemia (HP:0003348)
Associated disease: ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES (OMIM:617668)
Gene: LIPT2
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES (OMIM:617668)
Gene: LIPT2
Phenotype: Hyperglycinemia (HP:0002154)
Associated disease: ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES (OMIM:617668)
Gene: LIPT2
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES (OMIM:617668)
Gene: LIPT2
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES (OMIM:617668)
Gene: LIPT2
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES (OMIM:617668)
Gene: LIPT2
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES (OMIM:617668)
Gene: LIPT2
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES (OMIM:617668)
Gene: LIPT2
Phenotype: Increased circulating pyruvate concentration (HP:0003542)
Associated disease: ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES (OMIM:617668)
Gene: LIPT2
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES (OMIM:617668)
Gene: LIPT2
Phenotype: Periventricular cysts (HP:0007109)
Associated disease: ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES (OMIM:617668)
Gene: LIPT2
Phenotype: Neonatal onset (HP:0003623)
Associated disease: ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES (OMIM:617668)
Gene: LIPT2
Phenotype: Lateral ventricle dilatation (HP:0006956)
Associated disease: ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES (OMIM:617668)
Gene: LIPT2
Phenotype: Profound global developmental delay (HP:0012736)
Associated disease: ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES (OMIM:617668)
Gene: LIPT2
Phenotype: Elevated brain lactate level by MRS (HP:0012707)
Associated disease: ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES (OMIM:617668)
Gene: LIPT2
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES (OMIM:617668)
Gene: LIPT2
Phenotype: Microcephaly (HP:0000252)
Associated disease: ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES (OMIM:617668)
Gene: LIPT2
Phenotype: Death in infancy (HP:0001522)
Associated disease: ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES (OMIM:617668)
Gene: LIPT2
Phenotype: Absent posterior alpha rhythm (HP:0031518)
Associated disease: ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES (OMIM:617668)
Gene: RTL1
Phenotype: Adducted thumb (HP:0001181)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: RTL1
Phenotype: Microtia (HP:0008551)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: RTL1
Phenotype: Motor delay (HP:0001270)
Associated disease: UPD(14)mat; Temple syndrome due to maternal uniparental disomy of chromosome 14 (ORPHA:96184)
Gene: RTL1
Phenotype: Motor delay (HP:0001270)
Associated disease: Temple syndrome due to paternal 14q32.2 hypomethylation (ORPHA:254531)
Gene: RTL1
Phenotype: Motor delay (HP:0001270)
Associated disease: Temple syndrome due to paternal 14q32.2 microdeletion; Paternal del(14)(q32.2) (ORPHA:254525)
Gene: RTL1
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation (ORPHA:254534)
Gene: RTL1
Phenotype: Seizure (HP:0001250)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: RTL1
Phenotype: Hypotonia (HP:0001252)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: RTL1
Phenotype: Hypotonia (HP:0001252)
Associated disease: Temple syndrome due to paternal 14q32.2 hypomethylation (ORPHA:254531)
Gene: RTL1
Phenotype: Hypotonia (HP:0001252)
Associated disease: Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation (ORPHA:254534)
Gene: RTL1
Phenotype: Hypotonia (HP:0001252)
Associated disease: Temple syndrome due to paternal 14q32.2 microdeletion; Paternal del(14)(q32.2) (ORPHA:254525)
Gene: RTL1
Phenotype: Hypotonia (HP:0001252)
Associated disease: Maternal del(14)(q32.2); Maternal monosomy 14q32.2; Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion (ORPHA:254528)
Gene: RTL1
Phenotype: Hypotonia (HP:0001252)
Associated disease: UPD(14)mat; Temple syndrome due to maternal uniparental disomy of chromosome 14 (ORPHA:96184)
Gene: RTL1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Temple syndrome due to paternal 14q32.2 hypomethylation (ORPHA:254531)
Gene: RTL1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Temple syndrome due to paternal 14q32.2 microdeletion; Paternal del(14)(q32.2) (ORPHA:254525)
Gene: RTL1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: UPD(14)mat; Temple syndrome due to maternal uniparental disomy of chromosome 14 (ORPHA:96184)
Gene: RTL1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: RTL1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation (ORPHA:254534)
Gene: RTL1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Maternal del(14)(q32.2); Maternal monosomy 14q32.2; Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion (ORPHA:254528)
Gene: RTL1
Phenotype: Hypoplastic nipples (HP:0002557)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: RTL1
Phenotype: Wrist flexion contracture (HP:0001239)
Associated disease: Maternal del(14)(q32.2); Maternal monosomy 14q32.2; Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion (ORPHA:254528)
Gene: RTL1
Phenotype: Short femoral neck (HP:0100864)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: RTL1
Phenotype: Interphalangeal joint contracture of finger (HP:0001220)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: RTL1
Phenotype: Flexion contracture (HP:0001371)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: RTL1
Phenotype: Flexion contracture (HP:0001371)
Associated disease: Maternal del(14)(q32.2); Maternal monosomy 14q32.2; Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion (ORPHA:254528)
Gene: RTL1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Temple syndrome due to paternal 14q32.2 hypomethylation (ORPHA:254531)
Gene: RTL1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Maternal del(14)(q32.2); Maternal monosomy 14q32.2; Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion (ORPHA:254528)
Gene: RTL1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: UPD(14)mat; Temple syndrome due to maternal uniparental disomy of chromosome 14 (ORPHA:96184)
Gene: RTL1
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: Maternal del(14)(q32.2); Maternal monosomy 14q32.2; Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion (ORPHA:254528)
Gene: RTL1
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: RTL1
Phenotype: Plagiocephaly (HP:0001357)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: RTL1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: UPD(14)mat; Temple syndrome due to maternal uniparental disomy of chromosome 14 (ORPHA:96184)
Gene: RTL1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: RTL1
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: RTL1
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: Temple syndrome due to paternal 14q32.2 hypomethylation (ORPHA:254531)
Gene: RTL1
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation (ORPHA:254534)
Gene: RTL1
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: Temple syndrome due to paternal 14q32.2 microdeletion; Paternal del(14)(q32.2) (ORPHA:254525)
Gene: RTL1
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: Maternal del(14)(q32.2); Maternal monosomy 14q32.2; Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion (ORPHA:254528)
Gene: RTL1
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: UPD(14)mat; Temple syndrome due to maternal uniparental disomy of chromosome 14 (ORPHA:96184)
Gene: RTL1
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation (ORPHA:254534)
Gene: RTL1
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: Temple syndrome due to paternal 14q32.2 microdeletion; Paternal del(14)(q32.2) (ORPHA:254525)
Gene: RTL1
Phenotype: Coxa valga (HP:0002673)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: RTL1
Phenotype: Lissencephaly (HP:0001339)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: RTL1
Phenotype: Scoliosis (HP:0002650)
Associated disease: UPD(14)mat; Temple syndrome due to maternal uniparental disomy of chromosome 14 (ORPHA:96184)
Gene: RTL1
Phenotype: Scoliosis (HP:0002650)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: RTL1
Phenotype: Scoliosis (HP:0002650)
Associated disease: Temple syndrome due to paternal 14q32.2 hypomethylation (ORPHA:254531)
Gene: RTL1
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: Temple syndrome due to paternal 14q32.2 microdeletion; Paternal del(14)(q32.2) (ORPHA:254525)
Gene: RTL1
Phenotype: Wormian bones (HP:0002645)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: RTL1
Phenotype: Open mouth (HP:0000194)
Associated disease: Maternal del(14)(q32.2); Maternal monosomy 14q32.2; Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion (ORPHA:254528)
Gene: RTL1
Phenotype: Bifid uvula (HP:0000193)
Associated disease: UPD(14)mat; Temple syndrome due to maternal uniparental disomy of chromosome 14 (ORPHA:96184)
Gene: RTL1
Phenotype: Narrow mouth (HP:0000160)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: RTL1
Phenotype: Narrow mouth (HP:0000160)
Associated disease: UPD(14)mat; Temple syndrome due to maternal uniparental disomy of chromosome 14 (ORPHA:96184)
Gene: RTL1
Phenotype: Macroglossia (HP:0000158)
Associated disease: Maternal del(14)(q32.2); Maternal monosomy 14q32.2; Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion (ORPHA:254528)
Gene: RTL1
Phenotype: Macroglossia (HP:0000158)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: RTL1
Phenotype: Cleft palate (HP:0000175)
Associated disease: UPD(14)mat; Temple syndrome due to maternal uniparental disomy of chromosome 14 (ORPHA:96184)
Gene: RTL1
Phenotype: Peripheral retinal avascularization (HP:0007685)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: RTL1
Phenotype: Floppy infant (HP:0008947)
Associated disease: Temple syndrome due to paternal 14q32.2 hypomethylation (ORPHA:254531)
Gene: RTL1
Phenotype: Large placenta (HP:0006267)
Associated disease: Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation (ORPHA:254534)
Gene: RTL1
Phenotype: Large placenta (HP:0006267)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: RTL1
Phenotype: Large placenta (HP:0006267)
Associated disease: Maternal del(14)(q32.2); Maternal monosomy 14q32.2; Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion (ORPHA:254528)
Gene: RTL1
Phenotype: Abnormality of the genitourinary system (HP:0000119)
Associated disease: Temple syndrome due to paternal 14q32.2 microdeletion; Paternal del(14)(q32.2) (ORPHA:254525)
Gene: RTL1
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: Maternal del(14)(q32.2); Maternal monosomy 14q32.2; Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion (ORPHA:254528)
Gene: RTL1
Phenotype: Hepatosplenomegaly (HP:0001433)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: RTL1
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: RTL1
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: Temple syndrome due to paternal 14q32.2 microdeletion; Paternal del(14)(q32.2) (ORPHA:254525)
Gene: RTL1
Phenotype: Pyloric stenosis (HP:0002021)
Associated disease: UPD(14)mat; Temple syndrome due to maternal uniparental disomy of chromosome 14 (ORPHA:96184)
Gene: RTL1
Phenotype: Poor suck (HP:0002033)
Associated disease: Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation (ORPHA:254534)
Gene: RTL1
Phenotype: Deep philtrum (HP:0002002)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: RTL1
Phenotype: Redundant neck skin (HP:0005989)
Associated disease: Maternal del(14)(q32.2); Maternal monosomy 14q32.2; Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion (ORPHA:254528)
Gene: RTL1
Phenotype: Redundant neck skin (HP:0005989)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: RTL1
Phenotype: Decreased facial expression (HP:0004673)
Associated disease: Temple syndrome due to paternal 14q32.2 hypomethylation (ORPHA:254531)
Gene: RTL1
Phenotype: Frontal bossing (HP:0002007)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: RTL1
Phenotype: Pulmonary hypoplasia (HP:0002089)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: RTL1
Phenotype: Pulmonary arterial hypertension (HP:0002092)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: RTL1
Phenotype: Restrictive ventilatory defect (HP:0002091)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: RTL1
Phenotype: Prominent glabella (HP:0002057)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: RTL1
Phenotype: Thumb contracture (HP:0009600)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: RTL1
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation (ORPHA:254534)
Gene: RTL1
Phenotype: Undulate ribs (HP:0010561)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: RTL1
Phenotype: Long toe (HP:0010511)
Associated disease: Maternal del(14)(q32.2); Maternal monosomy 14q32.2; Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion (ORPHA:254528)
Gene: RTL1
Phenotype: Chin with horizontal crease (HP:0011823)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: RTL1
Phenotype: Chin with H-shaped crease (HP:0011824)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: RTL1
Phenotype: Exaggerated cupid's bow (HP:0002263)
Associated disease: Maternal del(14)(q32.2); Maternal monosomy 14q32.2; Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion (ORPHA:254528)
Gene: RTL1
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: RTL1
Phenotype: Epiphyseal stippling (HP:0010655)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: RTL1
Phenotype: Poor fine motor coordination (HP:0007010)
Associated disease: Temple syndrome due to paternal 14q32.2 hypomethylation (ORPHA:254531)
Gene: RTL1
Phenotype: Poor fine motor coordination (HP:0007010)
Associated disease: UPD(14)mat; Temple syndrome due to maternal uniparental disomy of chromosome 14 (ORPHA:96184)
Gene: RTL1
Phenotype: Poor fine motor coordination (HP:0007010)
Associated disease: Temple syndrome due to paternal 14q32.2 microdeletion; Paternal del(14)(q32.2) (ORPHA:254525)
Gene: RTL1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: UPD(14)mat; Temple syndrome due to maternal uniparental disomy of chromosome 14 (ORPHA:96184)
Gene: RTL1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: RTL1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Temple syndrome due to paternal 14q32.2 hypomethylation (ORPHA:254531)
Gene: RTL1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Maternal del(14)(q32.2); Maternal monosomy 14q32.2; Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion (ORPHA:254528)