TaoMedAI/RareMedData huggingface dataset:
Gene: SNRPE
Phenotype: Absent axillary hair (HP:0002221)
Associated disease: HYPOTRICHOSIS 11 (OMIM:615059)
Gene: SNRPE
Phenotype: Sparse or absent eyelashes (HP:0200102)
Associated disease: HYPOTRICHOSIS 11 (OMIM:615059)
Gene: SNRPE
Phenotype: Sparse body hair (HP:0002231)
Associated disease: Hypotrichosis simplex; Hereditary hypotrichosis simplex (ORPHA:55654)
Gene: SNRPE
Phenotype: Sparse scalp hair (HP:0002209)
Associated disease: Hypotrichosis simplex; Hereditary hypotrichosis simplex (ORPHA:55654)
Gene: SNRPE
Phenotype: Alopecia universalis (HP:0002289)
Associated disease: HYPOTRICHOSIS 11 (OMIM:615059)
Gene: SNRPE
Phenotype: Sparse eyelashes (HP:0000653)
Associated disease: Hypotrichosis simplex; Hereditary hypotrichosis simplex (ORPHA:55654)
Gene: SNRPE
Phenotype: Sparse eyebrow (HP:0045075)
Associated disease: Hypotrichosis simplex; Hereditary hypotrichosis simplex (ORPHA:55654)
Gene: SNRPE
Phenotype: Sparse hair (HP:0008070)
Associated disease: HYPOTRICHOSIS 11 (OMIM:615059)
Gene: SNRPE
Phenotype: Sparse hair (HP:0008070)
Associated disease: Hypotrichosis simplex; Hereditary hypotrichosis simplex (ORPHA:55654)
Gene: SNRPE
Phenotype: Alopecia (HP:0001596)
Associated disease: Hypotrichosis simplex; Hereditary hypotrichosis simplex (ORPHA:55654)
Gene: SNRPN
Phenotype: Brachydactyly (HP:0001156)
Associated disease: Prader-Willi syndrome due to translocation (ORPHA:177907)
Gene: SNRPN
Phenotype: Poor speech (HP:0002465)
Associated disease: Angelman syndrome due to imprinting defect in 15q11-q13 (ORPHA:411515)
Gene: SNRPN
Phenotype: Abnormal temper tantrums (HP:0025160)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: SNRPN
Phenotype: Abnormal temper tantrums (HP:0025160)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: SNRPN
Phenotype: Abnormal temper tantrums (HP:0025160)
Associated disease: Prader-Willi syndrome due to translocation (ORPHA:177907)
Gene: SNRPN
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: SNRPN
Phenotype: Progressive gait ataxia (HP:0007240)
Associated disease: ANGELMAN SYNDROME (OMIM:105830)
Gene: SNRPN
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: ANGELMAN SYNDROME (OMIM:105830)
Gene: SNRPN
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: Prader-Willi syndrome due to translocation (ORPHA:177907)
Gene: SNRPN
Phenotype: Sporadic (HP:0003745)
Associated disease: AUTISM (OMIM:209850)
Gene: SNRPN
Phenotype: Sporadic (HP:0003745)
Associated disease: ANGELMAN SYNDROME (OMIM:105830)
Gene: SNRPN
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: ANGELMAN SYNDROME (OMIM:105830)
Gene: SNRPN
Phenotype: Motor delay (HP:0001270)
Associated disease: ANGELMAN SYNDROME (OMIM:105830)
Gene: SNRPN
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: SNRPN
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: SNRPN
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: SNRPN
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: Prader-Willi syndrome due to translocation (ORPHA:177907)
Gene: SNRPN
Phenotype: Seizure (HP:0001250)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: SNRPN
Phenotype: Seizure (HP:0001250)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: SNRPN
Phenotype: Seizure (HP:0001250)
Associated disease: Prader-Willi syndrome due to translocation (ORPHA:177907)
Gene: SNRPN
Phenotype: Seizure (HP:0001250)
Associated disease: Angelman syndrome due to imprinting defect in 15q11-q13 (ORPHA:411515)
Gene: SNRPN
Phenotype: Seizure (HP:0001250)
Associated disease: ANGELMAN SYNDROME (OMIM:105830)
Gene: SNRPN
Phenotype: Seizure (HP:0001250)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: SNRPN
Phenotype: Seizure (HP:0001250)
Associated disease: AUTISM (OMIM:209850)
Gene: SNRPN
Phenotype: Hypotonia (HP:0001252)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: SNRPN
Phenotype: Hypotonia (HP:0001252)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: SNRPN
Phenotype: Hypotonia (HP:0001252)
Associated disease: ANGELMAN SYNDROME (OMIM:105830)
Gene: SNRPN
Phenotype: Hypotonia (HP:0001252)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: SNRPN
Phenotype: Ataxia (HP:0001251)
Associated disease: Angelman syndrome due to imprinting defect in 15q11-q13 (ORPHA:411515)
Gene: SNRPN
Phenotype: Ataxia (HP:0001251)
Associated disease: ANGELMAN SYNDROME (OMIM:105830)
Gene: SNRPN
Phenotype: Intellectual disability (HP:0001249)
Associated disease: AUTISM (OMIM:209850)
Gene: SNRPN
Phenotype: Gastroparesis (HP:0002578)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: SNRPN
Phenotype: Gastroparesis (HP:0002578)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: SNRPN
Phenotype: Gastroparesis (HP:0002578)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: SNRPN
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: Prader-Willi syndrome due to translocation (ORPHA:177907)
Gene: SNRPN
Phenotype: Polyphagia (HP:0002591)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: SNRPN
Phenotype: Polyphagia (HP:0002591)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: SNRPN
Phenotype: Polyphagia (HP:0002591)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: SNRPN
Phenotype: Polyphagia (HP:0002591)
Associated disease: Prader-Willi syndrome due to imprinting mutation (ORPHA:177910)
Gene: SNRPN
Phenotype: Polyphagia (HP:0002591)
Associated disease: Angelman syndrome due to imprinting defect in 15q11-q13 (ORPHA:411515)
Gene: SNRPN
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: SNRPN
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: SNRPN
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Prader-Willi syndrome due to imprinting mutation (ORPHA:177910)
Gene: SNRPN
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Prader-Willi syndrome due to translocation (ORPHA:177907)
Gene: SNRPN
Phenotype: Global developmental delay (HP:0001263)
Associated disease: ANGELMAN SYNDROME (OMIM:105830)
Gene: SNRPN
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: SNRPN
Phenotype: Obsessive-compulsive trait (HP:0008770)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: SNRPN
Phenotype: Obsessive-compulsive trait (HP:0008770)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: SNRPN
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: SNRPN
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: SNRPN
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: SNRPN
Phenotype: Brain imaging abnormality (HP:0410263)
Associated disease: Angelman syndrome due to imprinting defect in 15q11-q13 (ORPHA:411515)
Gene: SNRPN
Phenotype: Hypoplastic labia minora (HP:0000064)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: SNRPN
Phenotype: Hypoplastic labia minora (HP:0000064)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: SNRPN
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: SNRPN
Phenotype: Clitoral hypoplasia (HP:0000060)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: SNRPN
Phenotype: Clitoral hypoplasia (HP:0000060)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: SNRPN
Phenotype: Clitoral hypoplasia (HP:0000060)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: SNRPN
Phenotype: Abnormality of the kidney (HP:0000077)
Associated disease: Prader-Willi syndrome due to translocation (ORPHA:177907)
Gene: SNRPN
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: SNRPN
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: SNRPN
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: Prader-Willi syndrome due to imprinting mutation (ORPHA:177910)
Gene: SNRPN
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: Prader-Willi syndrome due to translocation (ORPHA:177907)
Gene: SNRPN
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: SNRPN
Phenotype: Small scrotum (HP:0000046)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: SNRPN
Phenotype: Small scrotum (HP:0000046)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: SNRPN
Phenotype: Small scrotum (HP:0000046)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: SNRPN
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: SNRPN
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: SNRPN
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: SNRPN
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: ANGELMAN SYNDROME (OMIM:105830)
Gene: SNRPN
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Prader-Willi syndrome due to translocation (ORPHA:177907)
Gene: SNRPN
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: SNRPN
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: SNRPN
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: SNRPN
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: ANGELMAN SYNDROME (OMIM:105830)
Gene: SNRPN
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: SNRPN
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: SNRPN
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: SNRPN
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: Prader-Willi syndrome due to imprinting mutation (ORPHA:177910)
Gene: SNRPN
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: Prader-Willi syndrome due to translocation (ORPHA:177907)
Gene: SNRPN
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: Angelman syndrome due to imprinting defect in 15q11-q13 (ORPHA:411515)
Gene: SNRPN
Phenotype: Postterm pregnancy (HP:0031169)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: SNRPN
Phenotype: Postterm pregnancy (HP:0031169)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: SNRPN
Phenotype: Postterm pregnancy (HP:0031169)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: SNRPN
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: SNRPN
Phenotype: Specific learning disability (HP:0001328)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: SNRPN
Phenotype: Specific learning disability (HP:0001328)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: SNRPN
Phenotype: Absent speech (HP:0001344)
Associated disease: ANGELMAN SYNDROME (OMIM:105830)
Gene: SNRPN
Phenotype: Absent speech (HP:0001344)
Associated disease: Prader-Willi syndrome due to translocation (ORPHA:177907)
Gene: SNRPN
Phenotype: Absent speech (HP:0001344)
Associated disease: Angelman syndrome due to imprinting defect in 15q11-q13 (ORPHA:411515)
Gene: SNRPN
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ANGELMAN SYNDROME (OMIM:105830)
Gene: SNRPN
Phenotype: Scoliosis (HP:0002650)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: SNRPN
Phenotype: Scoliosis (HP:0002650)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: SNRPN
Phenotype: Scoliosis (HP:0002650)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: SNRPN
Phenotype: Scoliosis (HP:0002650)
Associated disease: Prader-Willi syndrome due to translocation (ORPHA:177907)
Gene: SNRPN
Phenotype: Scoliosis (HP:0002650)
Associated disease: ANGELMAN SYNDROME (OMIM:105830)
Gene: SNRPN
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: Prader-Willi syndrome due to imprinting mutation (ORPHA:177910)
Gene: SNRPN
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: Prader-Willi syndrome due to translocation (ORPHA:177907)
Gene: SNRPN
Phenotype: Decreased circulating inhibin B concentration (HP:0031100)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: SNRPN
Phenotype: Decreased circulating inhibin B concentration (HP:0031100)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: SNRPN
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: SNRPN
Phenotype: Bifid uvula (HP:0000193)
Associated disease: Prader-Willi syndrome due to translocation (ORPHA:177907)
Gene: SNRPN
Phenotype: Skin-picking (HP:0012166)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: SNRPN
Phenotype: Skin-picking (HP:0012166)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: SNRPN
Phenotype: Skin-picking (HP:0012166)
Associated disease: Prader-Willi syndrome due to translocation (ORPHA:177907)
Gene: SNRPN
Phenotype: Skin-picking (HP:0012166)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: SNRPN
Phenotype: Head-banging (HP:0012168)
Associated disease: Prader-Willi syndrome due to translocation (ORPHA:177907)
Gene: SNRPN
Phenotype: Macroglossia (HP:0000158)
Associated disease: ANGELMAN SYNDROME (OMIM:105830)
Gene: SNRPN
Phenotype: Cleft palate (HP:0000175)
Associated disease: Prader-Willi syndrome due to translocation (ORPHA:177907)
Gene: SNRPN
Phenotype: Wide mouth (HP:0000154)
Associated disease: ANGELMAN SYNDROME (OMIM:105830)
Gene: SNRPN
Phenotype: Wide mouth (HP:0000154)
Associated disease: Prader-Willi syndrome due to translocation (ORPHA:177907)
Gene: SNRPN
Phenotype: Wide mouth (HP:0000154)
Associated disease: Angelman syndrome due to imprinting defect in 15q11-q13 (ORPHA:411515)
Gene: SNRPN
Phenotype: Microdontia of primary teeth (HP:0006347)
Associated disease: Prader-Willi syndrome due to translocation (ORPHA:177907)
Gene: SNRPN
Phenotype: Floppy infant (HP:0008947)
Associated disease: Angelman syndrome due to imprinting defect in 15q11-q13 (ORPHA:411515)
Gene: SNRPN
Phenotype: Parietal cortical atrophy (HP:0012104)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: SNRPN
Phenotype: Parietal cortical atrophy (HP:0012104)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: SNRPN
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: SNRPN
Phenotype: Occipital cortical atrophy (HP:0012105)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: SNRPN
Phenotype: Occipital cortical atrophy (HP:0012105)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: SNRPN
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: SNRPN
Phenotype: Non-Mendelian inheritance (HP:0001426)
Associated disease: AUTISM (OMIM:209850)
Gene: SNRPN
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: SNRPN
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: SNRPN
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: SNRPN
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: Prader-Willi syndrome due to translocation (ORPHA:177907)
Gene: SNRPN
Phenotype: Constipation (HP:0002019)
Associated disease: ANGELMAN SYNDROME (OMIM:105830)
Gene: SNRPN
Phenotype: Poor suck (HP:0002033)
Associated disease: Prader-Willi syndrome due to translocation (ORPHA:177907)
Gene: SNRPN
Phenotype: Respiratory distress (HP:0002098)
Associated disease: Prader-Willi syndrome due to translocation (ORPHA:177907)
Gene: SNRPN
Phenotype: Central adrenal insufficiency (HP:0011734)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: SNRPN
Phenotype: Central adrenal insufficiency (HP:0011734)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: SNRPN
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: SNRPN
Phenotype: Central hypothyroidism (HP:0011787)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: SNRPN
Phenotype: Central hypothyroidism (HP:0011787)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: SNRPN
Phenotype: Central hypothyroidism (HP:0011787)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: SNRPN
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: ANGELMAN SYNDROME (OMIM:105830)
Gene: SNRPN
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: Prader-Willi syndrome due to translocation (ORPHA:177907)
Gene: SNRPN
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: SNRPN
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: SNRPN
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: SNRPN
Phenotype: Broad-based gait (HP:0002136)
Associated disease: ANGELMAN SYNDROME (OMIM:105830)
Gene: SNRPN
Phenotype: Broad-based gait (HP:0002136)
Associated disease: Angelman syndrome due to imprinting defect in 15q11-q13 (ORPHA:411515)
Gene: SNRPN
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: Prader-Willi syndrome due to translocation (ORPHA:177907)
Gene: SNRPN
Phenotype: Self-injurious behavior (HP:0100716)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: SNRPN
Phenotype: Self-injurious behavior (HP:0100716)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: SNRPN
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: SNRPN
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: SNRPN
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: SNRPN
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: SNRPN
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: Prader-Willi syndrome due to translocation (ORPHA:177907)
Gene: SNRPN
Phenotype: Bulimia (HP:0100739)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Gene: SNRPN
Phenotype: Bulimia (HP:0100739)
Associated disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Gene: SNRPN
Phenotype: Bulimia (HP:0100739)
Associated disease: UPD(15)mat; Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (ORPHA:98754)
Gene: SNRPN
Phenotype: Fair hair (HP:0002286)
Associated disease: ANGELMAN SYNDROME (OMIM:105830)
Gene: SNRPN
Phenotype: Limb tremor (HP:0200085)
Associated disease: ANGELMAN SYNDROME (OMIM:105830)
Gene: SNRPN
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: Prader-Willi syndrome due to translocation (ORPHA:177907)
Gene: SNRPN
Phenotype: Triangular-shaped open mouth (HP:0200096)
Associated disease: Prader-Willi syndrome due to translocation (ORPHA:177907)