TaoMedAI/RareMedData huggingface dataset:
Gene: PI4K2A
Phenotype: Generalized-onset seizure (HP:0002197)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS, SEIZURES, AND STRUCTURAL BRAIN ABNORMALITIES (OMIM:620732)
Gene: PI4K2A
Phenotype: Opisthotonus (HP:0002179)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS, SEIZURES, AND STRUCTURAL BRAIN ABNORMALITIES (OMIM:620732)
Gene: PI4K2A
Phenotype: Infantile onset (HP:0003593)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS, SEIZURES, AND STRUCTURAL BRAIN ABNORMALITIES (OMIM:620732)
Gene: PI4K2A
Phenotype: Enlarged cisterna magna (HP:0002280)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS, SEIZURES, AND STRUCTURAL BRAIN ABNORMALITIES (OMIM:620732)
Gene: PI4K2A
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS, SEIZURES, AND STRUCTURAL BRAIN ABNORMALITIES (OMIM:620732)
Gene: PI4K2A
Phenotype: Hypoplasia of the brainstem (HP:0002365)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS, SEIZURES, AND STRUCTURAL BRAIN ABNORMALITIES (OMIM:620732)
Gene: PI4K2A
Phenotype: Orofacial dyskinesia (HP:0002310)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS, SEIZURES, AND STRUCTURAL BRAIN ABNORMALITIES (OMIM:620732)
Gene: PI4K2A
Phenotype: Hypotelorism (HP:0000601)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS, SEIZURES, AND STRUCTURAL BRAIN ABNORMALITIES (OMIM:620732)
Gene: PI4K2A
Phenotype: Akathisia (HP:0031943)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS, SEIZURES, AND STRUCTURAL BRAIN ABNORMALITIES (OMIM:620732)
Gene: PI4K2A
Phenotype: Arm dystonia (HP:0031960)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS, SEIZURES, AND STRUCTURAL BRAIN ABNORMALITIES (OMIM:620732)
Gene: PI4K2A
Phenotype: Sensory neuropathy (HP:0000763)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS, SEIZURES, AND STRUCTURAL BRAIN ABNORMALITIES (OMIM:620732)
Gene: PI4K2A
Phenotype: Irritability (HP:0000737)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS, SEIZURES, AND STRUCTURAL BRAIN ABNORMALITIES (OMIM:620732)
Gene: PI4K2A
Phenotype: Reduced cerebral white matter volume (HP:0034295)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS, SEIZURES, AND STRUCTURAL BRAIN ABNORMALITIES (OMIM:620732)
Gene: PI4K2A
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS, SEIZURES, AND STRUCTURAL BRAIN ABNORMALITIES (OMIM:620732)
Gene: PI4K2A
Phenotype: Microcephaly (HP:0000252)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS, SEIZURES, AND STRUCTURAL BRAIN ABNORMALITIES (OMIM:620732)
Gene: PI4K2A
Phenotype: Sleep onset insomnia (HP:0031354)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS, SEIZURES, AND STRUCTURAL BRAIN ABNORMALITIES (OMIM:620732)
Gene: PI4K2A
Phenotype: Failure to thrive (HP:0001508)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS, SEIZURES, AND STRUCTURAL BRAIN ABNORMALITIES (OMIM:620732)
Gene: PI4K2A
Phenotype: Epileptic spasm (HP:0011097)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS, SEIZURES, AND STRUCTURAL BRAIN ABNORMALITIES (OMIM:620732)
Gene: PI4K2A
Phenotype: Tonic seizure (HP:0032792)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS, SEIZURES, AND STRUCTURAL BRAIN ABNORMALITIES (OMIM:620732)
Gene: PI4K2A
Phenotype: Micrognathia (HP:0000347)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS, SEIZURES, AND STRUCTURAL BRAIN ABNORMALITIES (OMIM:620732)
Gene: PI4K2A
Phenotype: Myoclonic seizure (HP:0032794)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS, SEIZURES, AND STRUCTURAL BRAIN ABNORMALITIES (OMIM:620732)
Gene: PI4K2A
Phenotype: Hypoplastic anterior commissure (HP:0030303)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS, SEIZURES, AND STRUCTURAL BRAIN ABNORMALITIES (OMIM:620732)
Gene: PI4K2A
Phenotype: Protruding ear (HP:0000411)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS, SEIZURES, AND STRUCTURAL BRAIN ABNORMALITIES (OMIM:620732)
Gene: PI4K2A
Phenotype: Pes cavus (HP:0001761)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS, SEIZURES, AND STRUCTURAL BRAIN ABNORMALITIES (OMIM:620732)
Gene: LGR4
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: DELAYED PUBERTY, SELF-LIMITED (OMIM:619613)
Gene: LGR4
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DELAYED PUBERTY, SELF-LIMITED (OMIM:619613)
Gene: LGR4
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: DELAYED PUBERTY, SELF-LIMITED (OMIM:619613)
Gene: LGR4
Phenotype: Delayed puberty (HP:0000823)
Associated disease: DELAYED PUBERTY, SELF-LIMITED (OMIM:619613)
Gene: LGR4
Phenotype: Decreased serum testosterone concentration (HP:0040171)
Associated disease: DELAYED PUBERTY, SELF-LIMITED (OMIM:619613)
Gene: LGR4
Phenotype: Decreased circulating luteinizing hormone level (HP:0030344)
Associated disease: DELAYED PUBERTY, SELF-LIMITED (OMIM:619613)
Gene: LGR4
Phenotype: Decreased circulating follicle stimulating hormone concentration (HP:0030341)
Associated disease: DELAYED PUBERTY, SELF-LIMITED (OMIM:619613)
Gene: PIDD1
Phenotype: Seizure (HP:0001250)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 75, WITH NEUROPSYCHIATRIC FEATURES AND VARIANT LISSENCEPHALY (OMIM:619827)
Gene: PIDD1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 75, WITH NEUROPSYCHIATRIC FEATURES AND VARIANT LISSENCEPHALY (OMIM:619827)
Gene: PIDD1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 75, WITH NEUROPSYCHIATRIC FEATURES AND VARIANT LISSENCEPHALY (OMIM:619827)
Gene: PIDD1
Phenotype: Lissencephaly (HP:0001339)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 75, WITH NEUROPSYCHIATRIC FEATURES AND VARIANT LISSENCEPHALY (OMIM:619827)
Gene: PIDD1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 75, WITH NEUROPSYCHIATRIC FEATURES AND VARIANT LISSENCEPHALY (OMIM:619827)
Gene: PIDD1
Phenotype: Pachygyria (HP:0001302)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 75, WITH NEUROPSYCHIATRIC FEATURES AND VARIANT LISSENCEPHALY (OMIM:619827)
Gene: PIDD1
Phenotype: Self-biting (HP:0012169)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 75, WITH NEUROPSYCHIATRIC FEATURES AND VARIANT LISSENCEPHALY (OMIM:619827)
Gene: PIDD1
Phenotype: Nail-biting (HP:0012170)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 75, WITH NEUROPSYCHIATRIC FEATURES AND VARIANT LISSENCEPHALY (OMIM:619827)
Gene: PIDD1
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 75, WITH NEUROPSYCHIATRIC FEATURES AND VARIANT LISSENCEPHALY (OMIM:619827)
Gene: PIDD1
Phenotype: Bradykinesia (HP:0002067)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 75, WITH NEUROPSYCHIATRIC FEATURES AND VARIANT LISSENCEPHALY (OMIM:619827)
Gene: PIDD1
Phenotype: Generalized-onset seizure (HP:0002197)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 75, WITH NEUROPSYCHIATRIC FEATURES AND VARIANT LISSENCEPHALY (OMIM:619827)
Gene: PIDD1
Phenotype: Infantile onset (HP:0003593)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 75, WITH NEUROPSYCHIATRIC FEATURES AND VARIANT LISSENCEPHALY (OMIM:619827)
Gene: PIDD1
Phenotype: Self-injurious behavior (HP:0100716)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 75, WITH NEUROPSYCHIATRIC FEATURES AND VARIANT LISSENCEPHALY (OMIM:619827)
Gene: PIDD1
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 75, WITH NEUROPSYCHIATRIC FEATURES AND VARIANT LISSENCEPHALY (OMIM:619827)
Gene: PIDD1
Phenotype: Esodeviation (HP:0020045)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 75, WITH NEUROPSYCHIATRIC FEATURES AND VARIANT LISSENCEPHALY (OMIM:619827)
Gene: PIDD1
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 75, WITH NEUROPSYCHIATRIC FEATURES AND VARIANT LISSENCEPHALY (OMIM:619827)
Gene: PIDD1
Phenotype: Memory impairment (HP:0002354)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 75, WITH NEUROPSYCHIATRIC FEATURES AND VARIANT LISSENCEPHALY (OMIM:619827)
Gene: PIDD1
Phenotype: Slowed slurred speech (HP:0007164)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 75, WITH NEUROPSYCHIATRIC FEATURES AND VARIANT LISSENCEPHALY (OMIM:619827)
Gene: PIDD1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 75, WITH NEUROPSYCHIATRIC FEATURES AND VARIANT LISSENCEPHALY (OMIM:619827)
Gene: PIDD1
Phenotype: Hyperactivity (HP:0000752)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 75, WITH NEUROPSYCHIATRIC FEATURES AND VARIANT LISSENCEPHALY (OMIM:619827)
Gene: PIDD1
Phenotype: Inappropriate behavior (HP:0000719)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 75, WITH NEUROPSYCHIATRIC FEATURES AND VARIANT LISSENCEPHALY (OMIM:619827)
Gene: PIDD1
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 75, WITH NEUROPSYCHIATRIC FEATURES AND VARIANT LISSENCEPHALY (OMIM:619827)
Gene: PIDD1
Phenotype: Psychosis (HP:0000709)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 75, WITH NEUROPSYCHIATRIC FEATURES AND VARIANT LISSENCEPHALY (OMIM:619827)
Gene: PIDD1
Phenotype: Childhood onset (HP:0011463)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 75, WITH NEUROPSYCHIATRIC FEATURES AND VARIANT LISSENCEPHALY (OMIM:619827)
Gene: PIDD1
Phenotype: Nephrolithiasis (HP:0000787)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 75, WITH NEUROPSYCHIATRIC FEATURES AND VARIANT LISSENCEPHALY (OMIM:619827)
Gene: PIDD1
Phenotype: Hyperpigmentation of the skin (HP:0000953)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 75, WITH NEUROPSYCHIATRIC FEATURES AND VARIANT LISSENCEPHALY (OMIM:619827)
Gene: PIDD1
Phenotype: Microcephaly (HP:0000252)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 75, WITH NEUROPSYCHIATRIC FEATURES AND VARIANT LISSENCEPHALY (OMIM:619827)
Gene: PIDD1
Phenotype: EEG with generalized epileptiform discharges (HP:0011198)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 75, WITH NEUROPSYCHIATRIC FEATURES AND VARIANT LISSENCEPHALY (OMIM:619827)
Gene: PIDD1
Phenotype: Thick vermilion border (HP:0012471)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 75, WITH NEUROPSYCHIATRIC FEATURES AND VARIANT LISSENCEPHALY (OMIM:619827)
Gene: PIDD1
Phenotype: Esotropia (HP:0000565)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 75, WITH NEUROPSYCHIATRIC FEATURES AND VARIANT LISSENCEPHALY (OMIM:619827)
Gene: MEG3
Phenotype: Adducted thumb (HP:0001181)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: MEG3
Phenotype: Microtia (HP:0008551)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: MEG3
Phenotype: Motor delay (HP:0001270)
Associated disease: UPD(14)mat; Temple syndrome due to maternal uniparental disomy of chromosome 14 (ORPHA:96184)
Gene: MEG3
Phenotype: Motor delay (HP:0001270)
Associated disease: Temple syndrome due to paternal 14q32.2 hypomethylation (ORPHA:254531)
Gene: MEG3
Phenotype: Motor delay (HP:0001270)
Associated disease: Temple syndrome due to paternal 14q32.2 microdeletion; Paternal del(14)(q32.2) (ORPHA:254525)
Gene: MEG3
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation (ORPHA:254534)
Gene: MEG3
Phenotype: Seizure (HP:0001250)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: MEG3
Phenotype: Hypotonia (HP:0001252)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: MEG3
Phenotype: Hypotonia (HP:0001252)
Associated disease: Temple syndrome due to paternal 14q32.2 hypomethylation (ORPHA:254531)
Gene: MEG3
Phenotype: Hypotonia (HP:0001252)
Associated disease: Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation (ORPHA:254534)
Gene: MEG3
Phenotype: Hypotonia (HP:0001252)
Associated disease: Temple syndrome due to paternal 14q32.2 microdeletion; Paternal del(14)(q32.2) (ORPHA:254525)
Gene: MEG3
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: MEG3
Phenotype: Hypotonia (HP:0001252)
Associated disease: UPD(14)mat; Temple syndrome due to maternal uniparental disomy of chromosome 14 (ORPHA:96184)
Gene: MEG3
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Temple syndrome due to paternal 14q32.2 hypomethylation (ORPHA:254531)
Gene: MEG3
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Temple syndrome due to paternal 14q32.2 microdeletion; Paternal del(14)(q32.2) (ORPHA:254525)
Gene: MEG3
Phenotype: Intellectual disability (HP:0001249)
Associated disease: UPD(14)mat; Temple syndrome due to maternal uniparental disomy of chromosome 14 (ORPHA:96184)
Gene: MEG3
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: MEG3
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation (ORPHA:254534)
Gene: MEG3
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: MEG3
Phenotype: Hypoplastic nipples (HP:0002557)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: MEG3
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: MEG3
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: MEG3
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: MEG3
Phenotype: Flexion contracture (HP:0001371)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: MEG3
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: MEG3
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Temple syndrome due to paternal 14q32.2 hypomethylation (ORPHA:254531)
Gene: MEG3
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: MEG3
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: UPD(14)mat; Temple syndrome due to maternal uniparental disomy of chromosome 14 (ORPHA:96184)
Gene: MEG3
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: MEG3
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: MEG3
Phenotype: Plagiocephaly (HP:0001357)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: MEG3
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: UPD(14)mat; Temple syndrome due to maternal uniparental disomy of chromosome 14 (ORPHA:96184)
Gene: MEG3
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: MEG3
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: MEG3
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: Temple syndrome due to paternal 14q32.2 hypomethylation (ORPHA:254531)
Gene: MEG3
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation (ORPHA:254534)
Gene: MEG3
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: Temple syndrome due to paternal 14q32.2 microdeletion; Paternal del(14)(q32.2) (ORPHA:254525)
Gene: MEG3
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: MEG3
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: UPD(14)mat; Temple syndrome due to maternal uniparental disomy of chromosome 14 (ORPHA:96184)
Gene: MEG3
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation (ORPHA:254534)
Gene: MEG3
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: MEG3
Phenotype: Coxa valga (HP:0002673)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: MEG3
Phenotype: Lissencephaly (HP:0001339)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: MEG3
Phenotype: Scoliosis (HP:0002650)
Associated disease: UPD(14)mat; Temple syndrome due to maternal uniparental disomy of chromosome 14 (ORPHA:96184)
Gene: MEG3
Phenotype: Scoliosis (HP:0002650)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: MEG3
Phenotype: Scoliosis (HP:0002650)
Associated disease: Temple syndrome due to paternal 14q32.2 hypomethylation (ORPHA:254531)
Gene: MEG3
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: Temple syndrome due to paternal 14q32.2 microdeletion; Paternal del(14)(q32.2) (ORPHA:254525)
Gene: MEG3
Phenotype: Wormian bones (HP:0002645)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: MEG3
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: MEG3
Phenotype: Bifid uvula (HP:0000193)
Associated disease: UPD(14)mat; Temple syndrome due to maternal uniparental disomy of chromosome 14 (ORPHA:96184)
Gene: MEG3
Phenotype: Narrow mouth (HP:0000160)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: MEG3
Phenotype: Narrow mouth (HP:0000160)
Associated disease: UPD(14)mat; Temple syndrome due to maternal uniparental disomy of chromosome 14 (ORPHA:96184)
Gene: MEG3
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: MEG3
Phenotype: Macroglossia (HP:0000158)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: MEG3
Phenotype: Cleft palate (HP:0000175)
Associated disease: UPD(14)mat; Temple syndrome due to maternal uniparental disomy of chromosome 14 (ORPHA:96184)
Gene: MEG3
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: MEG3
Phenotype: Floppy infant (HP:0008947)
Associated disease: Temple syndrome due to paternal 14q32.2 hypomethylation (ORPHA:254531)
Gene: MEG3
Phenotype: Large placenta (HP:0006267)
Associated disease: Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation (ORPHA:254534)
Gene: MEG3
Phenotype: Large placenta (HP:0006267)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: MEG3
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: MEG3
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: MEG3
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: MEG3
Phenotype: Hepatosplenomegaly (HP:0001433)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: MEG3
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: MEG3
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: MEG3
Phenotype: Pyloric stenosis (HP:0002021)
Associated disease: UPD(14)mat; Temple syndrome due to maternal uniparental disomy of chromosome 14 (ORPHA:96184)
Gene: MEG3
Phenotype: Poor suck (HP:0002033)
Associated disease: Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation (ORPHA:254534)
Gene: MEG3
Phenotype: Deep philtrum (HP:0002002)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: MEG3
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: MEG3
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: MEG3
Phenotype: Decreased facial expression (HP:0004673)
Associated disease: Temple syndrome due to paternal 14q32.2 hypomethylation (ORPHA:254531)
Gene: MEG3
Phenotype: Frontal bossing (HP:0002007)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: MEG3
Phenotype: Pulmonary hypoplasia (HP:0002089)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)