TaoMedAI/RareMedData huggingface dataset:
Gene: MAGEL2
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: MAGEL2
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Schaaf-Yang syndrome; SYS (ORPHA:398069)
Gene: MAGEL2
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Prader-Willi syndrome due to imprinting mutation (ORPHA:177910)
Gene: MAGEL2
Phenotype: Fetal onset (HP:0011461)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MAGEL2
Phenotype: Neurodevelopmental delay (HP:0012758)
Associated disease: Schaaf-Yang syndrome; SYS (ORPHA:398069)
Gene: MAGEL2
Phenotype: Infertility (HP:0000789)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MAGEL2
Phenotype: Infertility (HP:0000789)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: MAGEL2
Phenotype: Infertility (HP:0000789)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: MAGEL2
Phenotype: Infertility (HP:0000789)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: MAGEL2
Phenotype: Infertility (HP:0000789)
Associated disease: Schaaf-Yang syndrome; SYS (ORPHA:398069)
Gene: MAGEL2
Phenotype: Primary amenorrhea (HP:0000786)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MAGEL2
Phenotype: Primary amenorrhea (HP:0000786)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: MAGEL2
Phenotype: Primary amenorrhea (HP:0000786)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: MAGEL2
Phenotype: Primary amenorrhea (HP:0000786)
Associated disease: Schaaf-Yang syndrome; SYS (ORPHA:398069)
Gene: MAGEL2
Phenotype: Primary amenorrhea (HP:0000786)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: MAGEL2
Phenotype: Hypercholesterolemia (HP:0003124)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MAGEL2
Phenotype: Decreased muscle mass (HP:0003199)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MAGEL2
Phenotype: Oligomenorrhea (HP:0000876)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MAGEL2
Phenotype: Adrenal insufficiency (HP:0000846)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MAGEL2
Phenotype: Hyperinsulinemia (HP:0000842)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MAGEL2
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: MAGEL2
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: MAGEL2
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: MAGEL2
Phenotype: Precocious puberty (HP:0000826)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MAGEL2
Phenotype: Precocious puberty (HP:0000826)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: MAGEL2
Phenotype: Precocious puberty (HP:0000826)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: MAGEL2
Phenotype: Precocious puberty (HP:0000826)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: MAGEL2
Phenotype: Precocious puberty (HP:0000826)
Associated disease: Schaaf-Yang syndrome; SYS (ORPHA:398069)
Gene: MAGEL2
Phenotype: Decreased response to growth hormone stimulation test (HP:0000824)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MAGEL2
Phenotype: Decreased response to growth hormone stimulation test (HP:0000824)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: MAGEL2
Phenotype: Decreased response to growth hormone stimulation test (HP:0000824)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: MAGEL2
Phenotype: Decreased response to growth hormone stimulation test (HP:0000824)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: MAGEL2
Phenotype: Delayed puberty (HP:0000823)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MAGEL2
Phenotype: Delayed puberty (HP:0000823)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: MAGEL2
Phenotype: Delayed puberty (HP:0000823)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: MAGEL2
Phenotype: Delayed puberty (HP:0000823)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: MAGEL2
Phenotype: Chorioretinal hypopigmentation (HP:0040030)
Associated disease: Schaaf-Yang syndrome; SYS (ORPHA:398069)
Gene: MAGEL2
Phenotype: Decreased HDL cholesterol concentration (HP:0003233)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MAGEL2
Phenotype: External genital hypoplasia (HP:0003241)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MAGEL2
Phenotype: External genital hypoplasia (HP:0003241)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: MAGEL2
Phenotype: External genital hypoplasia (HP:0003241)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: MAGEL2
Phenotype: External genital hypoplasia (HP:0003241)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: MAGEL2
Phenotype: External genital hypoplasia (HP:0003241)
Associated disease: Schaaf-Yang syndrome; SYS (ORPHA:398069)
Gene: MAGEL2
Phenotype: External genital hypoplasia (HP:0003241)
Associated disease: Prader-Willi syndrome due to imprinting mutation (ORPHA:177910)
Gene: MAGEL2
Phenotype: Cutaneous photosensitivity (HP:0000992)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MAGEL2
Phenotype: Edema (HP:0000969)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MAGEL2
Phenotype: Osteoporosis (HP:0000939)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: MAGEL2
Phenotype: Osteoporosis (HP:0000939)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MAGEL2
Phenotype: Osteoporosis (HP:0000939)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: MAGEL2
Phenotype: Osteoporosis (HP:0000939)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: MAGEL2
Phenotype: Osteoporosis (HP:0000939)
Associated disease: Schaaf-Yang syndrome; SYS (ORPHA:398069)
Gene: MAGEL2
Phenotype: Osteopenia (HP:0000938)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: MAGEL2
Phenotype: Osteopenia (HP:0000938)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MAGEL2
Phenotype: Osteopenia (HP:0000938)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: MAGEL2
Phenotype: Osteopenia (HP:0000938)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: MAGEL2
Phenotype: Osteopenia (HP:0000938)
Associated disease: Schaaf-Yang syndrome; SYS (ORPHA:398069)
Gene: MAGEL2
Phenotype: Hypothalamic luteinizing hormone-releasing hormone deficiency (HP:0012287)
Associated disease: Schaaf-Yang syndrome; SYS (ORPHA:398069)
Gene: MAGEL2
Phenotype: Abnormality of the philtrum (HP:0000288)
Associated disease: SCHAAF-YANG SYNDROME (OMIM:615547)
Gene: MAGEL2
Phenotype: Coarse facial features (HP:0000280)
Associated disease: SCHAAF-YANG SYNDROME (OMIM:615547)
Gene: MAGEL2
Phenotype: Retrognathia (HP:0000278)
Associated disease: SCHAAF-YANG SYNDROME (OMIM:615547)
Gene: MAGEL2
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MAGEL2
Phenotype: Iris hypopigmentation (HP:0007730)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: MAGEL2
Phenotype: Iris hypopigmentation (HP:0007730)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: MAGEL2
Phenotype: Iris hypopigmentation (HP:0007730)
Associated disease: Prader-Willi syndrome due to imprinting mutation (ORPHA:177910)
Gene: MAGEL2
Phenotype: Iris hypopigmentation (HP:0007730)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: MAGEL2
Phenotype: Multiple joint contractures (HP:0002828)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: MAGEL2
Phenotype: Clinodactyly (HP:0030084)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MAGEL2
Phenotype: Clinodactyly (HP:0030084)
Associated disease: SCHAAF-YANG SYNDROME (OMIM:615547)
Gene: MAGEL2
Phenotype: Kyphosis (HP:0002808)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MAGEL2
Phenotype: Kyphosis (HP:0002808)
Associated disease: Schaaf-Yang syndrome; SYS (ORPHA:398069)
Gene: MAGEL2
Phenotype: Kyphosis (HP:0002808)
Associated disease: SCHAAF-YANG SYNDROME (OMIM:615547)
Gene: MAGEL2
Phenotype: Arthrogryposis multiplex congenita (HP:0002804)
Associated disease: SCHAAF-YANG SYNDROME (OMIM:615547)
Gene: MAGEL2
Phenotype: Arthrogryposis multiplex congenita (HP:0002804)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: MAGEL2
Phenotype: Xerostomia (HP:0000217)
Associated disease: Schaaf-Yang syndrome; SYS (ORPHA:398069)
Gene: MAGEL2
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MAGEL2
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: Schaaf-Yang syndrome; SYS (ORPHA:398069)
Gene: MAGEL2
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: MAGEL2
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MAGEL2
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MAGEL2
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: MAGEL2
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: MAGEL2
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MAGEL2
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: MAGEL2
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: MAGEL2
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: Schaaf-Yang syndrome; SYS (ORPHA:398069)
Gene: MAGEL2
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: Prader-Willi syndrome due to imprinting mutation (ORPHA:177910)
Gene: MAGEL2
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: SCHAAF-YANG SYNDROME (OMIM:615547)
Gene: MAGEL2
Phenotype: Class III obesity (HP:0025501)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MAGEL2
Phenotype: Failure to thrive in infancy (HP:0001531)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MAGEL2
Phenotype: Failure to thrive in infancy (HP:0001531)
Associated disease: SCHAAF-YANG SYNDROME (OMIM:615547)
Gene: MAGEL2
Phenotype: Genu valgum (HP:0002857)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MAGEL2
Phenotype: Obstructive sleep apnea (HP:0002870)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: MAGEL2
Phenotype: Obstructive sleep apnea (HP:0002870)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: MAGEL2
Phenotype: Obstructive sleep apnea (HP:0002870)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: MAGEL2
Phenotype: Obstructive sleep apnea (HP:0002870)
Associated disease: Schaaf-Yang syndrome; SYS (ORPHA:398069)
Gene: MAGEL2
Phenotype: Central apnea (HP:0002871)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: MAGEL2
Phenotype: Central apnea (HP:0002871)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: MAGEL2
Phenotype: Central apnea (HP:0002871)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: MAGEL2
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Schaaf-Yang syndrome; SYS (ORPHA:398069)
Gene: MAGEL2
Phenotype: Failure to thrive (HP:0001508)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: MAGEL2
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: MAGEL2
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: MAGEL2
Phenotype: Small for gestational age (HP:0001518)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: MAGEL2
Phenotype: Small for gestational age (HP:0001518)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: MAGEL2
Phenotype: Small for gestational age (HP:0001518)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: MAGEL2
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MAGEL2
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: MAGEL2
Phenotype: Obesity (HP:0001513)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: MAGEL2
Phenotype: Obesity (HP:0001513)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MAGEL2
Phenotype: Obesity (HP:0001513)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: MAGEL2
Phenotype: Obesity (HP:0001513)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: MAGEL2
Phenotype: Obesity (HP:0001513)
Associated disease: Prader-Willi syndrome due to imprinting mutation (ORPHA:177910)
Gene: MAGEL2
Phenotype: Obesity (HP:0001513)
Associated disease: SCHAAF-YANG SYNDROME (OMIM:615547)
Gene: MAGEL2
Phenotype: Decreased circulating T4 concentration (HP:0031507)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: MAGEL2
Phenotype: Decreased circulating T4 concentration (HP:0031507)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: MAGEL2
Phenotype: Decreased circulating T4 concentration (HP:0031507)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: MAGEL2
Phenotype: Camptodactyly (HP:0012385)
Associated disease: SCHAAF-YANG SYNDROME (OMIM:615547)
Gene: MAGEL2
Phenotype: Intestinal hypoplasia (HP:0005245)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: MAGEL2
Phenotype: Almond-shaped palpebral fissure (HP:0007874)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: MAGEL2
Phenotype: Almond-shaped palpebral fissure (HP:0007874)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: MAGEL2
Phenotype: Almond-shaped palpebral fissure (HP:0007874)
Associated disease: Schaaf-Yang syndrome; SYS (ORPHA:398069)
Gene: MAGEL2
Phenotype: Almond-shaped palpebral fissure (HP:0007874)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MAGEL2
Phenotype: Almond-shaped palpebral fissure (HP:0007874)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: MAGEL2
Phenotype: Weak cry (HP:0001612)
Associated disease: Schaaf-Yang syndrome; SYS (ORPHA:398069)
Gene: MAGEL2
Phenotype: Weak cry (HP:0001612)
Associated disease: SCHAAF-YANG SYNDROME (OMIM:615547)
Gene: MAGEL2
Phenotype: Hypernasal speech (HP:0001611)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MAGEL2
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: MAGEL2
Phenotype: Low-set ears (HP:0000369)
Associated disease: SCHAAF-YANG SYNDROME (OMIM:615547)
Gene: MAGEL2
Phenotype: Narrow forehead (HP:0000341)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MAGEL2
Phenotype: Narrow forehead (HP:0000341)
Associated disease: SCHAAF-YANG SYNDROME (OMIM:615547)
Gene: MAGEL2
Phenotype: Micrognathia (HP:0000347)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: MAGEL2
Phenotype: Hypertelorism (HP:0000316)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: MAGEL2
Phenotype: Breech presentation (HP:0001623)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MAGEL2
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: Schaaf-Yang syndrome; SYS (ORPHA:398069)
Gene: MAGEL2
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: SCHAAF-YANG SYNDROME (OMIM:615547)
Gene: MAGEL2
Phenotype: Abnormal ulnar metaphysis morphology (HP:0004039)
Associated disease: Prader-Willi syndrome due to imprinting mutation (ORPHA:177910)
Gene: MAGEL2
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: MAGEL2
Phenotype: Strabismus (HP:0000486)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MAGEL2
Phenotype: Strabismus (HP:0000486)
Associated disease: Schaaf-Yang syndrome; SYS (ORPHA:398069)
Gene: MAGEL2
Phenotype: Strabismus (HP:0000486)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: MAGEL2
Phenotype: Strabismus (HP:0000486)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: MAGEL2
Phenotype: Strabismus (HP:0000486)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: MAGEL2
Phenotype: Cystic hygroma (HP:0000476)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: MAGEL2
Phenotype: Abnormality of the eye (HP:0000478)
Associated disease: Schaaf-Yang syndrome; SYS (ORPHA:398069)
Gene: MAGEL2
Phenotype: Chronic constipation (HP:0012450)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MAGEL2
Phenotype: Chronic constipation (HP:0012450)
Associated disease: Schaaf-Yang syndrome; SYS (ORPHA:398069)
Gene: MAGEL2
Phenotype: Short foot (HP:0001773)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MAGEL2
Phenotype: Short foot (HP:0001773)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: MAGEL2
Phenotype: Short foot (HP:0001773)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: MAGEL2
Phenotype: Short foot (HP:0001773)
Associated disease: Schaaf-Yang syndrome; SYS (ORPHA:398069)
Gene: MAGEL2
Phenotype: Short foot (HP:0001773)
Associated disease: Prader-Willi syndrome due to imprinting mutation (ORPHA:177910)
Gene: MAGEL2
Phenotype: Short foot (HP:0001773)
Associated disease: SCHAAF-YANG SYNDROME (OMIM:615547)
Gene: MAGEL2
Phenotype: Short foot (HP:0001773)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: MAGEL2
Phenotype: Premature pubarche (HP:0012411)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: MAGEL2
Phenotype: Premature pubarche (HP:0012411)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: MAGEL2
Phenotype: Premature pubarche (HP:0012411)
Associated disease: Schaaf-Yang syndrome; SYS (ORPHA:398069)
Gene: MAGEL2
Phenotype: Premature pubarche (HP:0012411)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: MAGEL2
Phenotype: Premature adrenarche (HP:0012412)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: MAGEL2
Phenotype: Premature adrenarche (HP:0012412)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: MAGEL2
Phenotype: Premature adrenarche (HP:0012412)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: MAGEL2
Phenotype: Narrow nasal bridge (HP:0000446)
Associated disease: Schaaf-Yang syndrome; SYS (ORPHA:398069)
Gene: MAGEL2
Phenotype: Narrow nasal bridge (HP:0000446)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MAGEL2
Phenotype: Small pituitary gland (HP:0012506)
Associated disease: Schaaf-Yang syndrome; SYS (ORPHA:398069)
Gene: MAGEL2
Phenotype: Rocker bottom foot (HP:0001838)
Associated disease: SCHAAF-YANG SYNDROME (OMIM:615547)
Gene: MAGEL2
Phenotype: Abnormality of vision (HP:0000504)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: MAGEL2
Phenotype: Abnormality of vision (HP:0000504)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: MAGEL2
Phenotype: Decreased circulating gonadotropin concentration (HP:0030339)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: MAGEL2
Phenotype: Decreased circulating gonadotropin concentration (HP:0030339)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: MAGEL2
Phenotype: Decreased circulating gonadotropin concentration (HP:0030339)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)