TaoMedAI/RareMedData huggingface dataset:
Gene: NDUFB11
Phenotype: Retinal dystrophy (HP:0000556)
Associated disease: MLS syndrome; Microphthalmia-dermal aplasia-sclerocornea syndrome; Syndromic microphthalmia type 7; MCOPS7; MIDAS syndrome; Microphthalmia with linear skin defects syndrome (ORPHA:2556)
Gene: NDUFB11
Phenotype: Visual loss (HP:0000572)
Associated disease: MLS syndrome; Microphthalmia-dermal aplasia-sclerocornea syndrome; Syndromic microphthalmia type 7; MCOPS7; MIDAS syndrome; Microphthalmia with linear skin defects syndrome (ORPHA:2556)
Gene: NDUFB11
Phenotype: Microphthalmia (HP:0000568)
Associated disease: LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1 (OMIM:309801)
Gene: NDUFB11
Phenotype: Microphthalmia (HP:0000568)
Associated disease: MLS syndrome; Microphthalmia-dermal aplasia-sclerocornea syndrome; Syndromic microphthalmia type 7; MCOPS7; MIDAS syndrome; Microphthalmia with linear skin defects syndrome (ORPHA:2556)
Gene: NDUFB11
Phenotype: Microphthalmia (HP:0000568)
Associated disease: LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3 (OMIM:300952)
Gene: NDUFB11
Phenotype: Lacrimal duct atresia (HP:0000564)
Associated disease: LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3 (OMIM:300952)
Gene: NDUFB11
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: NDUFB11
Phenotype: Myopia (HP:0000545)
Associated disease: LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3 (OMIM:300952)
Gene: TOMM7
Phenotype: Broad palm (HP:0001169)
Associated disease: GARG-MISHRA PROGEROID SYNDROME (OMIM:620601)
Gene: TOMM7
Phenotype: Hypotonia (HP:0001252)
Associated disease: GARG-MISHRA PROGEROID SYNDROME (OMIM:620601)
Gene: TOMM7
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: GARG-MISHRA PROGEROID SYNDROME (OMIM:620601)
Gene: TOMM7
Phenotype: Slender metacarpals (HP:0006236)
Associated disease: GARG-MISHRA PROGEROID SYNDROME (OMIM:620601)
Gene: TOMM7
Phenotype: Coxa valga (HP:0002673)
Associated disease: GARG-MISHRA PROGEROID SYNDROME (OMIM:620601)
Gene: TOMM7
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: GARG-MISHRA PROGEROID SYNDROME (OMIM:620601)
Gene: TOMM7
Phenotype: Increased circulating lactate dehydrogenase concentration (HP:0025435)
Associated disease: GARG-MISHRA PROGEROID SYNDROME (OMIM:620601)
Gene: TOMM7
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: GARG-MISHRA PROGEROID SYNDROME (OMIM:620601)
Gene: TOMM7
Phenotype: Microvesicular hepatic steatosis (HP:0001414)
Associated disease: GARG-MISHRA PROGEROID SYNDROME (OMIM:620601)
Gene: TOMM7
Phenotype: Ovoid vertebral bodies (HP:0003300)
Associated disease: GARG-MISHRA PROGEROID SYNDROME (OMIM:620601)
Gene: TOMM7
Phenotype: Infantile onset (HP:0003593)
Associated disease: GARG-MISHRA PROGEROID SYNDROME (OMIM:620601)
Gene: TOMM7
Phenotype: High hypermetropia (HP:0008499)
Associated disease: GARG-MISHRA PROGEROID SYNDROME (OMIM:620601)
Gene: TOMM7
Phenotype: Nystagmus (HP:0000639)
Associated disease: GARG-MISHRA PROGEROID SYNDROME (OMIM:620601)
Gene: TOMM7
Phenotype: Dental crowding (HP:0000678)
Associated disease: GARG-MISHRA PROGEROID SYNDROME (OMIM:620601)
Gene: TOMM7
Phenotype: Short stature (HP:0004322)
Associated disease: GARG-MISHRA PROGEROID SYNDROME (OMIM:620601)
Gene: TOMM7
Phenotype: Narrow chest (HP:0000774)
Associated disease: GARG-MISHRA PROGEROID SYNDROME (OMIM:620601)
Gene: TOMM7
Phenotype: Slender long bone (HP:0003100)
Associated disease: GARG-MISHRA PROGEROID SYNDROME (OMIM:620601)
Gene: TOMM7
Phenotype: Platyspondyly (HP:0000926)
Associated disease: GARG-MISHRA PROGEROID SYNDROME (OMIM:620601)
Gene: TOMM7
Phenotype: Persistent open anterior fontanelle (HP:0004474)
Associated disease: GARG-MISHRA PROGEROID SYNDROME (OMIM:620601)
Gene: TOMM7
Phenotype: Thin ribs (HP:0000883)
Associated disease: GARG-MISHRA PROGEROID SYNDROME (OMIM:620601)
Gene: TOMM7
Phenotype: Cafe-au-lait spot (HP:0000957)
Associated disease: GARG-MISHRA PROGEROID SYNDROME (OMIM:620601)
Gene: TOMM7
Phenotype: Sparse hair (HP:0008070)
Associated disease: GARG-MISHRA PROGEROID SYNDROME (OMIM:620601)
Gene: TOMM7
Phenotype: Broad forehead (HP:0000337)
Associated disease: GARG-MISHRA PROGEROID SYNDROME (OMIM:620601)
Gene: TOMM7
Phenotype: Micrognathia (HP:0000347)
Associated disease: GARG-MISHRA PROGEROID SYNDROME (OMIM:620601)
Gene: TOMM7
Phenotype: Triangular face (HP:0000325)
Associated disease: GARG-MISHRA PROGEROID SYNDROME (OMIM:620601)
Gene: TOMM7
Phenotype: Small nail (HP:0001792)
Associated disease: GARG-MISHRA PROGEROID SYNDROME (OMIM:620601)
Gene: TOMM7
Phenotype: Bulbous nose (HP:0000414)
Associated disease: GARG-MISHRA PROGEROID SYNDROME (OMIM:620601)
Gene: TOMM7
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: GARG-MISHRA PROGEROID SYNDROME (OMIM:620601)
Gene: TOMM7
Phenotype: Secondary microcephaly (HP:0005484)
Associated disease: GARG-MISHRA PROGEROID SYNDROME (OMIM:620601)
Gene: TOMM7
Phenotype: Microphthalmia (HP:0000568)
Associated disease: GARG-MISHRA PROGEROID SYNDROME (OMIM:620601)
Gene: MAGEL2
Phenotype: Tapered finger (HP:0001182)
Associated disease: SCHAAF-YANG SYNDROME (OMIM:615547)
Gene: MAGEL2
Phenotype: Brachydactyly (HP:0001156)
Associated disease: SCHAAF-YANG SYNDROME (OMIM:615547)
Gene: MAGEL2
Phenotype: Abnormal rapid eye movement sleep (HP:0002494)
Associated disease: Schaaf-Yang syndrome; SYS (ORPHA:398069)
Gene: MAGEL2
Phenotype: Syndactyly (HP:0001159)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MAGEL2
Phenotype: Impaired pain sensation (HP:0007328)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MAGEL2
Phenotype: Abnormal temper tantrums (HP:0025160)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: MAGEL2
Phenotype: Abnormal temper tantrums (HP:0025160)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: MAGEL2
Phenotype: Abnormal temper tantrums (HP:0025160)
Associated disease: Schaaf-Yang syndrome; SYS (ORPHA:398069)
Gene: MAGEL2
Phenotype: Abnormal temper tantrums (HP:0025160)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: MAGEL2
Phenotype: Sporadic (HP:0003745)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MAGEL2
Phenotype: Generalized amyotrophy (HP:0003700)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: MAGEL2
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MAGEL2
Phenotype: Motor delay (HP:0001270)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MAGEL2
Phenotype: Motor delay (HP:0001270)
Associated disease: Schaaf-Yang syndrome; SYS (ORPHA:398069)
Gene: MAGEL2
Phenotype: Confusional arousal (HP:0025237)
Associated disease: Schaaf-Yang syndrome; SYS (ORPHA:398069)
Gene: MAGEL2
Phenotype: Lethargy (HP:0001254)
Associated disease: Schaaf-Yang syndrome; SYS (ORPHA:398069)
Gene: MAGEL2
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: Schaaf-Yang syndrome; SYS (ORPHA:398069)
Gene: MAGEL2
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: MAGEL2
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: MAGEL2
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: MAGEL2
Phenotype: Seizure (HP:0001250)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MAGEL2
Phenotype: Seizure (HP:0001250)
Associated disease: Schaaf-Yang syndrome; SYS (ORPHA:398069)
Gene: MAGEL2
Phenotype: Seizure (HP:0001250)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: MAGEL2
Phenotype: Seizure (HP:0001250)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: MAGEL2
Phenotype: Seizure (HP:0001250)
Associated disease: SCHAAF-YANG SYNDROME (OMIM:615547)
Gene: MAGEL2
Phenotype: Seizure (HP:0001250)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: MAGEL2
Phenotype: Hypotonia (HP:0001252)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: MAGEL2
Phenotype: Hypotonia (HP:0001252)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: MAGEL2
Phenotype: Hypotonia (HP:0001252)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: MAGEL2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MAGEL2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Schaaf-Yang syndrome; SYS (ORPHA:398069)
Gene: MAGEL2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: SCHAAF-YANG SYNDROME (OMIM:615547)
Gene: MAGEL2
Phenotype: Gastroparesis (HP:0002578)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: MAGEL2
Phenotype: Gastroparesis (HP:0002578)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: MAGEL2
Phenotype: Gastroparesis (HP:0002578)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: MAGEL2
Phenotype: Polyphagia (HP:0002591)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MAGEL2
Phenotype: Polyphagia (HP:0002591)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: MAGEL2
Phenotype: Polyphagia (HP:0002591)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: MAGEL2
Phenotype: Polyphagia (HP:0002591)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: MAGEL2
Phenotype: Polyphagia (HP:0002591)
Associated disease: Schaaf-Yang syndrome; SYS (ORPHA:398069)
Gene: MAGEL2
Phenotype: Polyphagia (HP:0002591)
Associated disease: Prader-Willi syndrome due to imprinting mutation (ORPHA:177910)
Gene: MAGEL2
Phenotype: Polyphagia (HP:0002591)
Associated disease: SCHAAF-YANG SYNDROME (OMIM:615547)
Gene: MAGEL2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MAGEL2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: MAGEL2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: MAGEL2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Prader-Willi syndrome due to imprinting mutation (ORPHA:177910)
Gene: MAGEL2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: SCHAAF-YANG SYNDROME (OMIM:615547)
Gene: MAGEL2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: MAGEL2
Phenotype: Excessive daytime somnolence (HP:0001262)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: MAGEL2
Phenotype: Excessive daytime somnolence (HP:0001262)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MAGEL2
Phenotype: Obsessive-compulsive trait (HP:0008770)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: MAGEL2
Phenotype: Obsessive-compulsive trait (HP:0008770)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: MAGEL2
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: MAGEL2
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: MAGEL2
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: Schaaf-Yang syndrome; SYS (ORPHA:398069)
Gene: MAGEL2
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: MAGEL2
Phenotype: Brain imaging abnormality (HP:0410263)
Associated disease: Schaaf-Yang syndrome; SYS (ORPHA:398069)
Gene: MAGEL2
Phenotype: Inability to walk (HP:0002540)
Associated disease: SCHAAF-YANG SYNDROME (OMIM:615547)
Gene: MAGEL2
Phenotype: Hypoplastic labia minora (HP:0000064)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: MAGEL2
Phenotype: Hypoplastic labia minora (HP:0000064)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: MAGEL2
Phenotype: Hypoplastic labia minora (HP:0000064)
Associated disease: Schaaf-Yang syndrome; SYS (ORPHA:398069)
Gene: MAGEL2
Phenotype: Hypoplastic labia minora (HP:0000064)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MAGEL2
Phenotype: Hypoplastic labia minora (HP:0000064)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: MAGEL2
Phenotype: Clitoral hypoplasia (HP:0000060)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: MAGEL2
Phenotype: Clitoral hypoplasia (HP:0000060)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: MAGEL2
Phenotype: Clitoral hypoplasia (HP:0000060)
Associated disease: Schaaf-Yang syndrome; SYS (ORPHA:398069)
Gene: MAGEL2
Phenotype: Clitoral hypoplasia (HP:0000060)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MAGEL2
Phenotype: Clitoral hypoplasia (HP:0000060)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: MAGEL2
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MAGEL2
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: MAGEL2
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: MAGEL2
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: Prader-Willi syndrome due to imprinting mutation (ORPHA:177910)
Gene: MAGEL2
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: MAGEL2
Phenotype: Small scrotum (HP:0000046)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MAGEL2
Phenotype: Small scrotum (HP:0000046)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: MAGEL2
Phenotype: Small scrotum (HP:0000046)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: MAGEL2
Phenotype: Small scrotum (HP:0000046)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: MAGEL2
Phenotype: Small scrotum (HP:0000046)
Associated disease: Schaaf-Yang syndrome; SYS (ORPHA:398069)
Gene: MAGEL2
Phenotype: Flexion contracture (HP:0001371)
Associated disease: Schaaf-Yang syndrome; SYS (ORPHA:398069)
Gene: MAGEL2
Phenotype: Flexion contracture (HP:0001371)
Associated disease: SCHAAF-YANG SYNDROME (OMIM:615547)
Gene: MAGEL2
Phenotype: Micropenis (HP:0000054)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MAGEL2
Phenotype: Micropenis (HP:0000054)
Associated disease: Schaaf-Yang syndrome; SYS (ORPHA:398069)
Gene: MAGEL2
Phenotype: Micropenis (HP:0000054)
Associated disease: SCHAAF-YANG SYNDROME (OMIM:615547)
Gene: MAGEL2
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: MAGEL2
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MAGEL2
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: MAGEL2
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: MAGEL2
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: Schaaf-Yang syndrome; SYS (ORPHA:398069)
Gene: MAGEL2
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MAGEL2
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Schaaf-Yang syndrome; SYS (ORPHA:398069)
Gene: MAGEL2
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: MAGEL2
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: MAGEL2
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: MAGEL2
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: MAGEL2
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: SCHAAF-YANG SYNDROME (OMIM:615547)
Gene: MAGEL2
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: MAGEL2
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MAGEL2
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: MAGEL2
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: MAGEL2
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: Prader-Willi syndrome due to imprinting mutation (ORPHA:177910)
Gene: MAGEL2
Phenotype: Generalized hypopigmentation (HP:0007513)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MAGEL2
Phenotype: Postterm pregnancy (HP:0031169)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: MAGEL2
Phenotype: Postterm pregnancy (HP:0031169)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: MAGEL2
Phenotype: Postterm pregnancy (HP:0031169)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: MAGEL2
Phenotype: Specific learning disability (HP:0001328)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: MAGEL2
Phenotype: Specific learning disability (HP:0001328)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MAGEL2
Phenotype: Specific learning disability (HP:0001328)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: MAGEL2
Phenotype: Specific learning disability (HP:0001328)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: MAGEL2
Phenotype: Specific learning disability (HP:0001328)
Associated disease: Schaaf-Yang syndrome; SYS (ORPHA:398069)
Gene: MAGEL2
Phenotype: Absent speech (HP:0001344)
Associated disease: SCHAAF-YANG SYNDROME (OMIM:615547)
Gene: MAGEL2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MAGEL2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SCHAAF-YANG SYNDROME (OMIM:615547)
Gene: MAGEL2
Phenotype: Dandy-Walker malformation (HP:0001305)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: MAGEL2
Phenotype: Scoliosis (HP:0002650)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MAGEL2
Phenotype: Scoliosis (HP:0002650)
Associated disease: Schaaf-Yang syndrome; SYS (ORPHA:398069)
Gene: MAGEL2
Phenotype: Scoliosis (HP:0002650)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: MAGEL2
Phenotype: Scoliosis (HP:0002650)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: MAGEL2
Phenotype: Scoliosis (HP:0002650)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: MAGEL2
Phenotype: Scoliosis (HP:0002650)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: MAGEL2
Phenotype: Scoliosis (HP:0002650)
Associated disease: SCHAAF-YANG SYNDROME (OMIM:615547)
Gene: MAGEL2
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: PRADER-WILLI SYNDROME (OMIM:176270)
Gene: MAGEL2
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: Schaaf-Yang syndrome; SYS (ORPHA:398069)
Gene: MAGEL2
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: Prader-Willi syndrome due to imprinting mutation (ORPHA:177910)
Gene: MAGEL2
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: SCHAAF-YANG SYNDROME (OMIM:615547)
Gene: MAGEL2
Phenotype: Reduced tendon reflexes (HP:0001315)
Associated disease: Schaaf-Yang syndrome; SYS (ORPHA:398069)
Gene: MAGEL2
Phenotype: Decreased circulating inhibin B concentration (HP:0031100)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: MAGEL2
Phenotype: Decreased circulating inhibin B concentration (HP:0031100)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: MAGEL2
Phenotype: Decreased circulating inhibin B concentration (HP:0031100)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: MAGEL2
Phenotype: Open mouth (HP:0000194)
Associated disease: SCHAAF-YANG SYNDROME (OMIM:615547)
Gene: MAGEL2
Phenotype: Skin-picking (HP:0012166)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: MAGEL2
Phenotype: Skin-picking (HP:0012166)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: MAGEL2
Phenotype: Skin-picking (HP:0012166)
Associated disease: Schaaf-Yang syndrome; SYS (ORPHA:398069)
Gene: MAGEL2
Phenotype: Skin-picking (HP:0012166)
Associated disease: SCHAAF-YANG SYNDROME (OMIM:615547)
Gene: MAGEL2
Phenotype: Skin-picking (HP:0012166)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)