TaoMedAI/RareMedData huggingface dataset:
Gene: MAGEL2
Phenotype: Cleft palate (HP:0000175)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: MAGEL2
Phenotype: Hypogonadism (HP:0000135)
Associated disease: Schaaf-Yang syndrome; SYS (ORPHA:398069)
Gene: MAGEL2
Phenotype: Hypogonadism (HP:0000135)
Associated disease: SCHAAF-YANG SYNDROME (OMIM:615547)
Gene: MAGEL2
Phenotype: Floppy infant (HP:0008947)
Associated disease: Schaaf-Yang syndrome; SYS (ORPHA:398069)
Gene: MAGEL2
Phenotype: Parietal cortical atrophy (HP:0012104)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: MAGEL2
Phenotype: Parietal cortical atrophy (HP:0012104)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: MAGEL2
Phenotype: Parietal cortical atrophy (HP:0012104)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: MAGEL2
Phenotype: Occipital cortical atrophy (HP:0012105)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: MAGEL2
Phenotype: Occipital cortical atrophy (HP:0012105)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: MAGEL2
Phenotype: Occipital cortical atrophy (HP:0012105)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: MAGEL2
Phenotype: Hypoventilation (HP:0002791)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MAGEL2
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: MAGEL2
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MAGEL2
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: MAGEL2
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: MAGEL2
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: Schaaf-Yang syndrome; SYS (ORPHA:398069)
Gene: MAGEL2
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Schaaf-Yang syndrome; SYS (ORPHA:398069)
Gene: MAGEL2
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: SCHAAF-YANG SYNDROME (OMIM:615547)
Gene: MAGEL2
Phenotype: Constipation (HP:0002019)
Associated disease: SCHAAF-YANG SYNDROME (OMIM:615547)
Gene: MAGEL2
Phenotype: Poor suck (HP:0002033)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MAGEL2
Phenotype: Poor suck (HP:0002033)
Associated disease: Schaaf-Yang syndrome; SYS (ORPHA:398069)
Gene: MAGEL2
Phenotype: Poor suck (HP:0002033)
Associated disease: SCHAAF-YANG SYNDROME (OMIM:615547)
Gene: MAGEL2
Phenotype: Frontal bossing (HP:0002007)
Associated disease: SCHAAF-YANG SYNDROME (OMIM:615547)
Gene: MAGEL2
Phenotype: Temperature instability (HP:0005968)
Associated disease: Schaaf-Yang syndrome; SYS (ORPHA:398069)
Gene: MAGEL2
Phenotype: Temperature instability (HP:0005968)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MAGEL2
Phenotype: Type II diabetes mellitus (HP:0005978)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MAGEL2
Phenotype: Type II diabetes mellitus (HP:0005978)
Associated disease: Schaaf-Yang syndrome; SYS (ORPHA:398069)
Gene: MAGEL2
Phenotype: Pulmonary hypoplasia (HP:0002089)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: MAGEL2
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Schaaf-Yang syndrome; SYS (ORPHA:398069)
Gene: MAGEL2
Phenotype: Low 5-minute APGAR score (HP:0030919)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MAGEL2
Phenotype: Low 1-minute APGAR score (HP:0030918)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MAGEL2
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: MAGEL2
Phenotype: Radial deviation of finger (HP:0009466)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MAGEL2
Phenotype: Central adrenal insufficiency (HP:0011734)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: MAGEL2
Phenotype: Central adrenal insufficiency (HP:0011734)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: MAGEL2
Phenotype: Central adrenal insufficiency (HP:0011734)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: MAGEL2
Phenotype: Absence of pubertal development (HP:0008197)
Associated disease: Schaaf-Yang syndrome; SYS (ORPHA:398069)
Gene: MAGEL2
Phenotype: Nasogastric tube feeding (HP:0040288)
Associated disease: Schaaf-Yang syndrome; SYS (ORPHA:398069)
Gene: MAGEL2
Phenotype: Absent palmar crease (HP:0010489)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: MAGEL2
Phenotype: Central hypothyroidism (HP:0011787)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: MAGEL2
Phenotype: Central hypothyroidism (HP:0011787)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: MAGEL2
Phenotype: Central hypothyroidism (HP:0011787)
Associated disease: Schaaf-Yang syndrome; SYS (ORPHA:398069)
Gene: MAGEL2
Phenotype: Central hypothyroidism (HP:0011787)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: MAGEL2
Phenotype: Hypertriglyceridemia (HP:0002155)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MAGEL2
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MAGEL2
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Schaaf-Yang syndrome; SYS (ORPHA:398069)
Gene: MAGEL2
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: MAGEL2
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: MAGEL2
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: MAGEL2
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: MAGEL2
Phenotype: Central sleep apnea (HP:0010536)
Associated disease: Schaaf-Yang syndrome; SYS (ORPHA:398069)
Gene: MAGEL2
Phenotype: Sleep apnea (HP:0010535)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MAGEL2
Phenotype: Sleep apnea (HP:0010535)
Associated disease: Schaaf-Yang syndrome; SYS (ORPHA:398069)
Gene: MAGEL2
Phenotype: Sleep apnea (HP:0010535)
Associated disease: SCHAAF-YANG SYNDROME (OMIM:615547)
Gene: MAGEL2
Phenotype: Infantile onset (HP:0003593)
Associated disease: SCHAAF-YANG SYNDROME (OMIM:615547)
Gene: MAGEL2
Phenotype: Congenital onset (HP:0003577)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MAGEL2
Phenotype: Congenital onset (HP:0003577)
Associated disease: SCHAAF-YANG SYNDROME (OMIM:615547)
Gene: MAGEL2
Phenotype: Frontal upsweep of hair (HP:0002236)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MAGEL2
Phenotype: Impulsivity (HP:0100710)
Associated disease: Schaaf-Yang syndrome; SYS (ORPHA:398069)
Gene: MAGEL2
Phenotype: Impulsivity (HP:0100710)
Associated disease: SCHAAF-YANG SYNDROME (OMIM:615547)
Gene: MAGEL2
Phenotype: Self-injurious behavior (HP:0100716)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MAGEL2
Phenotype: Self-injurious behavior (HP:0100716)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: MAGEL2
Phenotype: Self-injurious behavior (HP:0100716)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: MAGEL2
Phenotype: Self-injurious behavior (HP:0100716)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: MAGEL2
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: MAGEL2
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MAGEL2
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: MAGEL2
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: MAGEL2
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: Schaaf-Yang syndrome; SYS (ORPHA:398069)
Gene: MAGEL2
Phenotype: Bulimia (HP:0100739)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: MAGEL2
Phenotype: Bulimia (HP:0100739)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: MAGEL2
Phenotype: Bulimia (HP:0100739)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: MAGEL2
Phenotype: Poor fine motor coordination (HP:0007010)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MAGEL2
Phenotype: Poor gross motor coordination (HP:0007015)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MAGEL2
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MAGEL2
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Schaaf-Yang syndrome; SYS (ORPHA:398069)
Gene: MAGEL2
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: SCHAAF-YANG SYNDROME (OMIM:615547)
Gene: MAGEL2
Phenotype: Anterior pituitary hypoplasia (HP:0010627)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: MAGEL2
Phenotype: Anterior pituitary hypoplasia (HP:0010627)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: MAGEL2
Phenotype: Anterior pituitary hypoplasia (HP:0010627)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: MAGEL2
Phenotype: Pterygium (HP:0001059)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: MAGEL2
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: MAGEL2
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MAGEL2
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: MAGEL2
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: MAGEL2
Phenotype: Hypokinesia (HP:0002375)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: MAGEL2
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: MAGEL2
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: MAGEL2
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: MAGEL2
Phenotype: Hypopigmentation of the skin (HP:0001010)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: MAGEL2
Phenotype: Hypopigmentation of the skin (HP:0001010)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: MAGEL2
Phenotype: Hypopigmentation of the skin (HP:0001010)
Associated disease: Schaaf-Yang syndrome; SYS (ORPHA:398069)
Gene: MAGEL2
Phenotype: Hypopigmentation of the skin (HP:0001010)
Associated disease: Prader-Willi syndrome due to imprinting mutation (ORPHA:177910)
Gene: MAGEL2
Phenotype: Hypopigmentation of the skin (HP:0001010)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: MAGEL2
Phenotype: Impaired temperature sensation (HP:0010829)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: MAGEL2
Phenotype: Impaired temperature sensation (HP:0010829)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: MAGEL2
Phenotype: Impaired temperature sensation (HP:0010829)
Associated disease: Schaaf-Yang syndrome; SYS (ORPHA:398069)
Gene: MAGEL2
Phenotype: Impaired temperature sensation (HP:0010829)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: MAGEL2
Phenotype: Small hand (HP:0200055)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MAGEL2
Phenotype: Small hand (HP:0200055)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: MAGEL2
Phenotype: Small hand (HP:0200055)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: MAGEL2
Phenotype: Small hand (HP:0200055)
Associated disease: Schaaf-Yang syndrome; SYS (ORPHA:398069)
Gene: MAGEL2
Phenotype: Small hand (HP:0200055)
Associated disease: Prader-Willi syndrome due to imprinting mutation (ORPHA:177910)
Gene: MAGEL2
Phenotype: Small hand (HP:0200055)
Associated disease: SCHAAF-YANG SYNDROME (OMIM:615547)
Gene: MAGEL2
Phenotype: Small hand (HP:0200055)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: MAGEL2
Phenotype: Tube feeding (HP:0033454)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MAGEL2
Phenotype: Pedal edema (HP:0010741)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: MAGEL2
Phenotype: Pedal edema (HP:0010741)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: MAGEL2
Phenotype: Pedal edema (HP:0010741)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: MAGEL2
Phenotype: Neonatal onset (HP:0003623)
Associated disease: SCHAAF-YANG SYNDROME (OMIM:615547)
Gene: MAGEL2
Phenotype: Akinesia (HP:0002304)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: MAGEL2
Phenotype: Acromicria (HP:0031878)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MAGEL2
Phenotype: Speech articulation difficulties (HP:0009088)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: MAGEL2
Phenotype: Speech articulation difficulties (HP:0009088)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: MAGEL2
Phenotype: Narrow palm (HP:0004283)
Associated disease: Prader-Willi syndrome due to imprinting mutation (ORPHA:177910)
Gene: MAGEL2
Phenotype: Narrow palm (HP:0004283)
Associated disease: SCHAAF-YANG SYNDROME (OMIM:615547)
Gene: MAGEL2
Phenotype: Narrow palm (HP:0004283)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MAGEL2
Phenotype: Hypopigmentation of hair (HP:0005599)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: MAGEL2
Phenotype: Hypopigmentation of hair (HP:0005599)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: MAGEL2
Phenotype: Hypopigmentation of hair (HP:0005599)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: MAGEL2
Phenotype: Hypopigmentation of hair (HP:0005599)
Associated disease: Schaaf-Yang syndrome; SYS (ORPHA:398069)
Gene: MAGEL2
Phenotype: Hypopigmentation of hair (HP:0005599)
Associated disease: Prader-Willi syndrome due to imprinting mutation (ORPHA:177910)
Gene: MAGEL2
Phenotype: Short palm (HP:0004279)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MAGEL2
Phenotype: Intellectual disability, borderline (HP:0006889)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: MAGEL2
Phenotype: Intellectual disability, borderline (HP:0006889)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: MAGEL2
Phenotype: Intellectual disability, borderline (HP:0006889)
Associated disease: Schaaf-Yang syndrome; SYS (ORPHA:398069)
Gene: MAGEL2
Phenotype: Intellectual disability, borderline (HP:0006889)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: MAGEL2
Phenotype: Perisylvian polymicrogyria (HP:0012650)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: MAGEL2
Phenotype: Perisylvian polymicrogyria (HP:0012650)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: MAGEL2
Phenotype: Perisylvian polymicrogyria (HP:0012650)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: MAGEL2
Phenotype: Fetal akinesia sequence (HP:0001989)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: MAGEL2
Phenotype: Fetal akinesia sequence (HP:0001989)
Associated disease: SCHAAF-YANG SYNDROME (OMIM:615547)
Gene: MAGEL2
Phenotype: Carious teeth (HP:0000670)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MAGEL2
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: MAGEL2
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: Schaaf-Yang syndrome; SYS (ORPHA:398069)
Gene: MAGEL2
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: Prader-Willi syndrome due to imprinting mutation (ORPHA:177910)
Gene: MAGEL2
Phenotype: Increased body weight (HP:0004324)
Associated disease: Schaaf-Yang syndrome; SYS (ORPHA:398069)
Gene: MAGEL2
Phenotype: Short stature (HP:0004322)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MAGEL2
Phenotype: Short stature (HP:0004322)
Associated disease: Schaaf-Yang syndrome; SYS (ORPHA:398069)
Gene: MAGEL2
Phenotype: Short stature (HP:0004322)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: MAGEL2
Phenotype: Short stature (HP:0004322)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: MAGEL2
Phenotype: Short stature (HP:0004322)
Associated disease: Prader-Willi syndrome due to imprinting mutation (ORPHA:177910)
Gene: MAGEL2
Phenotype: Short stature (HP:0004322)
Associated disease: SCHAAF-YANG SYNDROME (OMIM:615547)
Gene: MAGEL2
Phenotype: Short stature (HP:0004322)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: MAGEL2
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: SCHAAF-YANG SYNDROME (OMIM:615547)
Gene: MAGEL2
Phenotype: Short palpebral fissure (HP:0012745)
Associated disease: SCHAAF-YANG SYNDROME (OMIM:615547)
Gene: MAGEL2
Phenotype: Abdominal obesity (HP:0012743)
Associated disease: Schaaf-Yang syndrome; SYS (ORPHA:398069)
Gene: MAGEL2
Phenotype: Abdominal obesity (HP:0012743)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MAGEL2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MAGEL2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Schaaf-Yang syndrome; SYS (ORPHA:398069)
Gene: MAGEL2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: SCHAAF-YANG SYNDROME (OMIM:615547)
Gene: MAGEL2
Phenotype: Autism (HP:0000717)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MAGEL2
Phenotype: Autism (HP:0000717)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: MAGEL2
Phenotype: Autism (HP:0000717)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: MAGEL2
Phenotype: Autism (HP:0000717)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: MAGEL2
Phenotype: Autistic behavior (HP:0000729)
Associated disease: Schaaf-Yang syndrome; SYS (ORPHA:398069)
Gene: MAGEL2
Phenotype: Autistic behavior (HP:0000729)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: MAGEL2
Phenotype: Autistic behavior (HP:0000729)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: MAGEL2
Phenotype: Autistic behavior (HP:0000729)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: MAGEL2
Phenotype: Autistic behavior (HP:0000729)
Associated disease: SCHAAF-YANG SYNDROME (OMIM:615547)
Gene: MAGEL2
Phenotype: Compulsive behaviors (HP:0000722)
Associated disease: Schaaf-Yang syndrome; SYS (ORPHA:398069)
Gene: MAGEL2
Phenotype: Psychosis (HP:0000709)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MAGEL2
Phenotype: Psychosis (HP:0000709)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: MAGEL2
Phenotype: Psychosis (HP:0000709)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: MAGEL2
Phenotype: Psychosis (HP:0000709)
Associated disease: Schaaf-Yang syndrome; SYS (ORPHA:398069)
Gene: MAGEL2
Phenotype: Psychosis (HP:0000709)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: MAGEL2
Phenotype: Atypical behavior (HP:0000708)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: MAGEL2
Phenotype: Atypical behavior (HP:0000708)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MAGEL2
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)