TaoMedAI/RareMedData huggingface dataset:
Gene: RTL1
Phenotype: Limb undergrowth (HP:0009826)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: RTL1
Phenotype: Abnormal distal phalanx morphology of finger (HP:0009832)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: RTL1
Phenotype: Broad distal phalanx of finger (HP:0009836)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: RTL1
Phenotype: Tented upper lip vermilion (HP:0010804)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: RTL1
Phenotype: Upper limb undergrowth (HP:0009824)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: RTL1
Phenotype: Small hand (HP:0200055)
Associated disease: Temple syndrome due to paternal 14q32.2 hypomethylation (ORPHA:254531)
Gene: RTL1
Phenotype: Small hand (HP:0200055)
Associated disease: Temple syndrome due to paternal 14q32.2 microdeletion; Paternal del(14)(q32.2) (ORPHA:254525)
Gene: RTL1
Phenotype: Small hand (HP:0200055)
Associated disease: UPD(14)mat; Temple syndrome due to maternal uniparental disomy of chromosome 14 (ORPHA:96184)
Gene: RTL1
Phenotype: Drooling (HP:0002307)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: RTL1
Phenotype: Maturity-onset diabetes of the young (HP:0004904)
Associated disease: UPD(14)mat; Temple syndrome due to maternal uniparental disomy of chromosome 14 (ORPHA:96184)
Gene: RTL1
Phenotype: Maturity-onset diabetes of the young (HP:0004904)
Associated disease: Temple syndrome due to paternal 14q32.2 hypomethylation (ORPHA:254531)
Gene: RTL1
Phenotype: Acromicria (HP:0031878)
Associated disease: Temple syndrome due to paternal 14q32.2 microdeletion; Paternal del(14)(q32.2) (ORPHA:254525)
Gene: RTL1
Phenotype: Hernia of the abdominal wall (HP:0004299)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: RTL1
Phenotype: Truncal obesity (HP:0001956)
Associated disease: UPD(14)mat; Temple syndrome due to maternal uniparental disomy of chromosome 14 (ORPHA:96184)
Gene: RTL1
Phenotype: Short 1st metacarpal (HP:0010034)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: RTL1
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: RTL1
Phenotype: Frontal hirsutism (HP:0011335)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: RTL1
Phenotype: Moderate global developmental delay (HP:0011343)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: RTL1
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: RTL1
Phenotype: Short stature (HP:0004322)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: RTL1
Phenotype: Short stature (HP:0004322)
Associated disease: UPD(14)mat; Temple syndrome due to maternal uniparental disomy of chromosome 14 (ORPHA:96184)
Gene: RTL1
Phenotype: Ulnar deviation of the wrist (HP:0003049)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: RTL1
Phenotype: Short palpebral fissure (HP:0012745)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: RTL1
Phenotype: Pectus excavatum (HP:0000767)
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: Pectus excavatum (HP:0000767)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: RTL1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: UPD(14)mat; Temple syndrome due to maternal uniparental disomy of chromosome 14 (ORPHA:96184)
Gene: RTL1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Temple syndrome due to paternal 14q32.2 hypomethylation (ORPHA:254531)
Gene: RTL1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Temple syndrome due to paternal 14q32.2 microdeletion; Paternal del(14)(q32.2) (ORPHA:254525)
Gene: RTL1
Phenotype: Autistic behavior (HP:0000729)
Associated disease: Temple syndrome due to paternal 14q32.2 hypomethylation (ORPHA:254531)
Gene: RTL1
Phenotype: Gastrostomy tube feeding in infancy (HP:0011471)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: RTL1
Phenotype: Flexion contracture of finger (HP:0012785)
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: Narrow chest (HP:0000774)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: RTL1
Phenotype: Short ribs (HP:0000773)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: RTL1
Phenotype: Reduced social responsiveness (HP:0012760)
Associated disease: Temple syndrome due to paternal 14q32.2 hypomethylation (ORPHA:254531)
Gene: RTL1
Phenotype: Hypercholesterolemia (HP:0003124)
Associated disease: Temple syndrome due to paternal 14q32.2 hypomethylation (ORPHA:254531)
Gene: RTL1
Phenotype: Hypercholesterolemia (HP:0003124)
Associated disease: UPD(14)mat; Temple syndrome due to maternal uniparental disomy of chromosome 14 (ORPHA:96184)
Gene: RTL1
Phenotype: Pulmonary artery stenosis (HP:0004415)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: RTL1
Phenotype: Short tibia (HP:0005736)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: RTL1
Phenotype: Abnormality of the costochondral junction (HP:0000919)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: RTL1
Phenotype: Abnormality of the skeletal system (HP:0000924)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: RTL1
Phenotype: Inverted nipples (HP:0003186)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: RTL1
Phenotype: Anterior rib cupping (HP:0000907)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: RTL1
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: Temple syndrome due to paternal 14q32.2 microdeletion; Paternal del(14)(q32.2) (ORPHA:254525)
Gene: RTL1
Phenotype: Hypoplastic scapulae (HP:0000882)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: RTL1
Phenotype: Long clavicles (HP:0000890)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: RTL1
Phenotype: Prominent sternum (HP:0000884)
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: Prominent sternum (HP:0000884)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: RTL1
Phenotype: Reduced eye contact (HP:0000817)
Associated disease: Temple syndrome due to paternal 14q32.2 hypomethylation (ORPHA:254531)
Gene: RTL1
Phenotype: Precocious puberty (HP:0000826)
Associated disease: Temple syndrome due to paternal 14q32.2 hypomethylation (ORPHA:254531)
Gene: RTL1
Phenotype: Precocious puberty (HP:0000826)
Associated disease: UPD(14)mat; Temple syndrome due to maternal uniparental disomy of chromosome 14 (ORPHA:96184)
Gene: RTL1
Phenotype: Precocious puberty (HP:0000826)
Associated disease: Temple syndrome due to paternal 14q32.2 microdeletion; Paternal del(14)(q32.2) (ORPHA:254525)
Gene: RTL1
Phenotype: Clinodactyly of the 3rd finger (HP:0040024)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: RTL1
Phenotype: External genital hypoplasia (HP:0003241)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: RTL1
Phenotype: Spinal dysraphism (HP:0010301)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: RTL1
Phenotype: Cutis laxa (HP:0000973)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: RTL1
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: RTL1
Phenotype: Single transverse palmar crease (HP:0000954)
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: Narrow palpebral fissure (HP:0045025)
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 ilia (HP:0000946)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: RTL1
Phenotype: Small proximal tibial epiphyses (HP:0012284)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: RTL1
Phenotype: Epicanthus (HP:0000286)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: RTL1
Phenotype: Epicanthus (HP:0000286)
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: Retrognathia (HP:0000278)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: RTL1
Phenotype: Retrognathia (HP:0000278)
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: Full cheeks (HP:0000293)
Associated disease: UPD(14)mat; Temple syndrome due to maternal uniparental disomy of chromosome 14 (ORPHA:96184)
Gene: RTL1
Phenotype: Wide anterior fontanel (HP:0000260)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: RTL1
Phenotype: Clinodactyly (HP:0030084)
Associated disease: Temple syndrome due to paternal 14q32.2 hypomethylation (ORPHA:254531)
Gene: RTL1
Phenotype: Clinodactyly (HP:0030084)
Associated disease: Temple syndrome due to paternal 14q32.2 microdeletion; Paternal del(14)(q32.2) (ORPHA:254525)
Gene: RTL1
Phenotype: Clinodactyly (HP:0030084)
Associated disease: UPD(14)mat; Temple syndrome due to maternal uniparental disomy of chromosome 14 (ORPHA:96184)
Gene: RTL1
Phenotype: Metaphyseal spurs (HP:0005054)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: RTL1
Phenotype: Microcephaly (HP:0000252)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: RTL1
Phenotype: Hepatoblastoma (HP:0002884)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: RTL1
Phenotype: Overgrowth (HP:0001548)
Associated disease: Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation (ORPHA:254534)
Gene: RTL1
Phenotype: Overgrowth (HP:0001548)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: RTL1
Phenotype: Respiratory failure (HP:0002878)
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: Respiratory failure (HP:0002878)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: RTL1
Phenotype: High palate (HP:0000218)
Associated disease: UPD(14)mat; Temple syndrome due to maternal uniparental disomy of chromosome 14 (ORPHA:96184)
Gene: RTL1
Phenotype: High palate (HP:0000218)
Associated disease: Temple syndrome due to paternal 14q32.2 hypomethylation (ORPHA:254531)
Gene: RTL1
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: RTL1
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation (ORPHA:254534)
Gene: RTL1
Phenotype: Polyhydramnios (HP:0001561)
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: Diastasis recti (HP:0001540)
Associated disease: Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation (ORPHA:254534)
Gene: RTL1
Phenotype: Diastasis recti (HP:0001540)
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: Diastasis recti (HP:0001540)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: RTL1
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation (ORPHA:254534)
Gene: RTL1
Phenotype: Umbilical hernia (HP:0001537)
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: Omphalocele (HP:0001539)
Associated disease: Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation (ORPHA:254534)
Gene: RTL1
Phenotype: Omphalocele (HP:0001539)
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: Omphalocele (HP:0001539)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: RTL1
Phenotype: Protuberant abdomen (HP:0001538)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: RTL1
Phenotype: Hypoplastic iliac wing (HP:0002866)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: RTL1
Phenotype: Large for gestational age (HP:0001520)
Associated disease: Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation (ORPHA:254534)
Gene: RTL1
Phenotype: Large for gestational age (HP:0001520)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: RTL1
Phenotype: Small for gestational age (HP:0001518)
Associated disease: Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation (ORPHA:254534)
Gene: RTL1
Phenotype: Small for gestational age (HP:0001518)
Associated disease: UPD(14)mat; Temple syndrome due to maternal uniparental disomy of chromosome 14 (ORPHA:96184)
Gene: RTL1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Temple syndrome due to paternal 14q32.2 hypomethylation (ORPHA:254531)
Gene: RTL1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Temple syndrome due to paternal 14q32.2 microdeletion; Paternal del(14)(q32.2) (ORPHA:254525)
Gene: RTL1
Phenotype: Intrauterine growth retardation (HP:0001511)
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: Intrauterine growth retardation (HP:0001511)
Associated disease: UPD(14)mat; Temple syndrome due to maternal uniparental disomy of chromosome 14 (ORPHA:96184)
Gene: RTL1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: RTL1
Phenotype: Growth delay (HP:0001510)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: RTL1
Phenotype: Obesity (HP:0001513)
Associated disease: Temple syndrome due to paternal 14q32.2 hypomethylation (ORPHA:254531)
Gene: RTL1
Phenotype: Obesity (HP:0001513)
Associated disease: Temple syndrome due to paternal 14q32.2 microdeletion; Paternal del(14)(q32.2) (ORPHA:254525)
Gene: RTL1
Phenotype: Obesity (HP:0001513)
Associated disease: UPD(14)mat; Temple syndrome due to maternal uniparental disomy of chromosome 14 (ORPHA:96184)
Gene: RTL1
Phenotype: Camptodactyly (HP:0012385)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: RTL1
Phenotype: Camptodactyly (HP:0012385)
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: Thoracic hypoplasia (HP:0005257)
Associated disease: Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation (ORPHA:254534)
Gene: RTL1
Phenotype: Thoracic hypoplasia (HP:0005257)
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: Thoracic hypoplasia (HP:0005257)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: RTL1
Phenotype: Absent glenoid fossa (HP:0006591)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: RTL1
Phenotype: Miscarriage (HP:0005268)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: RTL1
Phenotype: Hemivertebrae (HP:0002937)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: RTL1
Phenotype: Laryngomalacia (HP:0001601)
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: Laryngomalacia (HP:0001601)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: RTL1
Phenotype: Hoarse cry (HP:0001615)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: RTL1
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: Temple syndrome due to paternal 14q32.2 microdeletion; Paternal del(14)(q32.2) (ORPHA:254525)
Gene: RTL1
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: RTL1
Phenotype: Narrow forehead (HP:0000341)
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: Long philtrum (HP:0000343)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: RTL1
Phenotype: Broad forehead (HP:0000337)
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: Micrognathia (HP:0000347)
Associated disease: UPD(14)mat; Temple syndrome due to maternal uniparental disomy of chromosome 14 (ORPHA:96184)
Gene: RTL1
Phenotype: Micrognathia (HP:0000347)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: RTL1
Phenotype: Micrognathia (HP:0000347)
Associated disease: Temple syndrome due to paternal 14q32.2 hypomethylation (ORPHA:254531)
Gene: RTL1
Phenotype: Micrognathia (HP:0000347)
Associated disease: Temple syndrome due to paternal 14q32.2 microdeletion; Paternal del(14)(q32.2) (ORPHA:254525)
Gene: RTL1
Phenotype: Tibial bowing (HP:0002982)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: RTL1
Phenotype: Abnormal aortic arch morphology (HP:0012303)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: RTL1
Phenotype: Hypoplasia of the maxilla (HP:0000327)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: RTL1
Phenotype: Short philtrum (HP:0000322)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: RTL1
Phenotype: Short philtrum (HP:0000322)
Associated disease: Temple syndrome due to paternal 14q32.2 hypomethylation (ORPHA:254531)
Gene: RTL1
Phenotype: Short philtrum (HP:0000322)
Associated disease: UPD(14)mat; Temple syndrome due to maternal uniparental disomy of chromosome 14 (ORPHA:96184)
Gene: RTL1
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation (ORPHA:254534)
Gene: RTL1
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: RTL1
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation (ORPHA:254534)
Gene: RTL1
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: Temple syndrome due to paternal 14q32.2 microdeletion; Paternal del(14)(q32.2) (ORPHA:254525)
Gene: RTL1
Phenotype: Premature birth (HP:0001622)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: RTL1
Phenotype: Premature birth (HP:0001622)
Associated disease: UPD(14)mat; Temple syndrome due to maternal uniparental disomy of chromosome 14 (ORPHA:96184)
Gene: RTL1
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: RTL1
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: RTL1
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: RTL1
Phenotype: Wide intermamillary distance (HP:0006610)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: RTL1
Phenotype: Coat hanger sign of ribs (HP:0006665)
Associated disease: Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation (ORPHA:254534)