TaoMedAI/RareMedData huggingface dataset:
Gene: VAMP2
Phenotype: Inability to walk (HP:0002540)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND AUTISTIC FEATURES WITH OR WITHOUT HYPERKINETIC MOVEMENTS (OMIM:618760)
Gene: VAMP2
Phenotype: Dystonia (HP:0001332)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND AUTISTIC FEATURES WITH OR WITHOUT HYPERKINETIC MOVEMENTS (OMIM:618760)
Gene: VAMP2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND AUTISTIC FEATURES WITH OR WITHOUT HYPERKINETIC MOVEMENTS (OMIM:618760)
Gene: VAMP2
Phenotype: Stereotypical hand wringing (HP:0012171)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND AUTISTIC FEATURES WITH OR WITHOUT HYPERKINETIC MOVEMENTS (OMIM:618760)
Gene: VAMP2
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND AUTISTIC FEATURES WITH OR WITHOUT HYPERKINETIC MOVEMENTS (OMIM:618760)
Gene: VAMP2
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND AUTISTIC FEATURES WITH OR WITHOUT HYPERKINETIC MOVEMENTS (OMIM:618760)
Gene: VAMP2
Phenotype: Chorea (HP:0002072)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND AUTISTIC FEATURES WITH OR WITHOUT HYPERKINETIC MOVEMENTS (OMIM:618760)
Gene: VAMP2
Phenotype: Infantile onset (HP:0003593)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND AUTISTIC FEATURES WITH OR WITHOUT HYPERKINETIC MOVEMENTS (OMIM:618760)
Gene: VAMP2
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND AUTISTIC FEATURES WITH OR WITHOUT HYPERKINETIC MOVEMENTS (OMIM:618760)
Gene: VAMP2
Phenotype: Self-injurious behavior (HP:0100716)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND AUTISTIC FEATURES WITH OR WITHOUT HYPERKINETIC MOVEMENTS (OMIM:618760)
Gene: VAMP2
Phenotype: EEG abnormality (HP:0002353)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND AUTISTIC FEATURES WITH OR WITHOUT HYPERKINETIC MOVEMENTS (OMIM:618760)
Gene: VAMP2
Phenotype: Autistic behavior (HP:0000729)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND AUTISTIC FEATURES WITH OR WITHOUT HYPERKINETIC MOVEMENTS (OMIM:618760)
Gene: VAMP2
Phenotype: Atypical behavior (HP:0000708)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND AUTISTIC FEATURES WITH OR WITHOUT HYPERKINETIC MOVEMENTS (OMIM:618760)
Gene: VAMP2
Phenotype: Convulsive status epilepticus (HP:0032660)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND AUTISTIC FEATURES WITH OR WITHOUT HYPERKINETIC MOVEMENTS (OMIM:618760)
Gene: VAMP7
Phenotype: Hypoplasia of the vagina (HP:0008726)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: VAMP7
Phenotype: Female external genitalia in individual with 46,XY karyotype (HP:0008730)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: VAMP7
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: VAMP7
Phenotype: Hypoplasia of penis (HP:0008736)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: VAMP7
Phenotype: Clitoral hypertrophy (HP:0008665)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: VAMP7
Phenotype: Ambiguous genitalia (HP:0000062)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: VAMP7
Phenotype: Abnormal labia morphology (HP:0000058)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: VAMP7
Phenotype: Abnormal scrotum morphology (HP:0000045)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: VAMP7
Phenotype: Micropenis (HP:0000054)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: VAMP7
Phenotype: Hypospadias (HP:0000047)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: VAMP7
Phenotype: Testicular gonadoblastoma (HP:0000030)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: VAMP7
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: VAMP7
Phenotype: Azoospermia (HP:0000027)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: VAMP7
Phenotype: Nephroblastoma (HP:0002667)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: VAMP7
Phenotype: Abnormal vagina morphology (HP:0000142)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: VAMP7
Phenotype: Gonadoblastoma (HP:0000150)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: VAMP7
Phenotype: Ovarian gonadoblastoma (HP:0000149)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: VAMP7
Phenotype: Gonadal dysgenesis (HP:0000133)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: VAMP7
Phenotype: Nephrotic syndrome (HP:0000100)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: VAMP7
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: VAMP7
Phenotype: Primary gonadal insufficiency (HP:0008193)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: VAMP7
Phenotype: Absence of secondary sex characteristics (HP:0008187)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: VAMP7
Phenotype: Streak ovary (HP:0010464)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: VAMP7
Phenotype: Elevated circulating follicle stimulating hormone level (HP:0008232)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: VAMP7
Phenotype: Decreased serum estradiol (HP:0008214)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: VAMP7
Phenotype: Sparse axillary hair (HP:0002215)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: VAMP7
Phenotype: Sparse pubic hair (HP:0002225)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: VAMP7
Phenotype: Urogenital sinus anomaly (HP:0100779)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: VAMP7
Phenotype: Elevated circulating luteinizing hormone level (HP:0011969)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: VAMP7
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: VAMP7
Phenotype: Gynecomastia (HP:0000771)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: VAMP7
Phenotype: Primary amenorrhea (HP:0000786)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: VAMP7
Phenotype: Vanishing testis (HP:0012870)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: VAMP7
Phenotype: Decreased fertility in females (HP:0000868)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: VAMP7
Phenotype: Increased circulating gonadotropin level (HP:0000837)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: VAMP7
Phenotype: Adrenal insufficiency (HP:0000846)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: VAMP7
Phenotype: Hypergonadotropic hypogonadism (HP:0000815)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: VAMP7
Phenotype: Abnormal internal genitalia (HP:0000812)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: VAMP7
Phenotype: Delayed puberty (HP:0000823)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: VAMP7
Phenotype: Male infertility (HP:0003251)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: VAMP7
Phenotype: Osteoporosis (HP:0000939)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: VAMP7
Phenotype: Decreased serum testosterone concentration (HP:0040171)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: VAMP7
Phenotype: Abnormal sex determination (HP:0012244)
Associated disease: 46,XY PGD; 46,XY partial testicular dysgenesis; 46,XY partial gonadal dysgenesis (ORPHA:251510)
Gene: SYK
Phenotype: Colitis (HP:0002583)
Associated disease: IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION (OMIM:619381)
Gene: SYK
Phenotype: Duodenal ulcer (HP:0002588)
Associated disease: IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION (OMIM:619381)
Gene: SYK
Phenotype: Decreased total B cell count (HP:0010976)
Associated disease: IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION (OMIM:619381)
Gene: SYK
Phenotype: Pustular rash (HP:0033605)
Associated disease: IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION (OMIM:619381)
Gene: SYK
Phenotype: Bowel irritability (HP:0033628)
Associated disease: IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION (OMIM:619381)
Gene: SYK
Phenotype: Arthritis (HP:0001369)
Associated disease: IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION (OMIM:619381)
Gene: SYK
Phenotype: Joint swelling (HP:0001386)
Associated disease: IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION (OMIM:619381)
Gene: SYK
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION (OMIM:619381)
Gene: SYK
Phenotype: B-cell lymphoma (HP:0012191)
Associated disease: IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION (OMIM:619381)
Gene: SYK
Phenotype: Oral ulcer (HP:0000155)
Associated disease: IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION (OMIM:619381)
Gene: SYK
Phenotype: Hepatitis (HP:0012115)
Associated disease: IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION (OMIM:619381)
Gene: SYK
Phenotype: Osteomyelitis (HP:0002754)
Associated disease: IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION (OMIM:619381)
Gene: SYK
Phenotype: Osteomalacia (HP:0002749)
Associated disease: IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION (OMIM:619381)
Gene: SYK
Phenotype: Recurrent infections (HP:0002719)
Associated disease: IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION (OMIM:619381)
Gene: SYK
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION (OMIM:619381)
Gene: SYK
Phenotype: Follicular hyperplasia (HP:0002729)
Associated disease: IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION (OMIM:619381)
Gene: SYK
Phenotype: Recurrent abscess formation (HP:0002722)
Associated disease: IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION (OMIM:619381)
Gene: SYK
Phenotype: Abdominal pain (HP:0002027)
Associated disease: IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION (OMIM:619381)
Gene: SYK
Phenotype: Diarrhea (HP:0002014)
Associated disease: IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION (OMIM:619381)
Gene: SYK
Phenotype: Vomiting (HP:0002013)
Associated disease: IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION (OMIM:619381)
Gene: SYK
Phenotype: Pneumonia (HP:0002090)
Associated disease: IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION (OMIM:619381)
Gene: SYK
Phenotype: Intractable diarrhea (HP:0002041)
Associated disease: IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION (OMIM:619381)
Gene: SYK
Phenotype: Anorexia (HP:0002039)
Associated disease: IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION (OMIM:619381)
Gene: SYK
Phenotype: Decreased circulating total IgA (HP:0003460)
Associated disease: IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION (OMIM:619381)
Gene: SYK
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION (OMIM:619381)
Gene: SYK
Phenotype: Spinal cord granuloma (HP:6000257)
Associated disease: IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION (OMIM:619381)
Gene: SYK
Phenotype: Infantile onset (HP:0003593)
Associated disease: IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION (OMIM:619381)
Gene: SYK
Phenotype: Vasculitis in the skin (HP:0200029)
Associated disease: IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION (OMIM:619381)
Gene: SYK
Phenotype: Decreased circulating total IgG concentration (HP:0032132)
Associated disease: IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION (OMIM:619381)
Gene: SYK
Phenotype: Cholesteatoma (HP:0009797)
Associated disease: IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION (OMIM:619381)
Gene: SYK
Phenotype: Recurrent fever (HP:0001954)
Associated disease: IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION (OMIM:619381)
Gene: SYK
Phenotype: Anemia (HP:0001903)
Associated disease: IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION (OMIM:619381)
Gene: SYK
Phenotype: Hypoalbuminemia (HP:0003073)
Associated disease: IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION (OMIM:619381)
Gene: SYK
Phenotype: Villous atrophy (HP:0011473)
Associated disease: IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION (OMIM:619381)
Gene: SYK
Phenotype: Postauricular pit (HP:0004464)
Associated disease: IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION (OMIM:619381)
Gene: SYK
Phenotype: Hypernatremia (HP:0003228)
Associated disease: IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION (OMIM:619381)
Gene: SYK
Phenotype: Reduced total natural killer cell count (HP:0040218)
Associated disease: IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION (OMIM:619381)
Gene: SYK
Phenotype: Crohn's disease (HP:0100280)
Associated disease: IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION (OMIM:619381)
Gene: SYK
Phenotype: Skin rash (HP:0000988)
Associated disease: IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION (OMIM:619381)
Gene: SYK
Phenotype: Decreased proportion of naive T cells (HP:0031397)
Associated disease: IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION (OMIM:619381)
Gene: SYK
Phenotype: Recurrent skin infections (HP:0001581)
Associated disease: IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION (OMIM:619381)
Gene: SYK
Phenotype: Decreased circulating total IgM (HP:0002850)
Associated disease: IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION (OMIM:619381)
Gene: SYK
Phenotype: Decreased mitogen-induced T-cell proliferation (HP:0031381)
Associated disease: IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION (OMIM:619381)
Gene: SYK
Phenotype: Bronchitis (HP:0012387)
Associated disease: IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION (OMIM:619381)
Gene: SYK
Phenotype: Gastritis (HP:0005263)
Associated disease: IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION (OMIM:619381)
Gene: SYK
Phenotype: Anoperineal fistula (HP:0005218)
Associated disease: IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION (OMIM:619381)
Gene: SYK
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION (OMIM:619381)
Gene: SYK
Phenotype: Splenomegaly (HP:0001744)
Associated disease: IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION (OMIM:619381)
Gene: SYK
Phenotype: Decreased total T cell count (HP:0005403)
Associated disease: IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION (OMIM:619381)
Gene: SYK
Phenotype: Weight loss (HP:0001824)
Associated disease: IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION (OMIM:619381)
Gene: SYK
Phenotype: Elevated circulating C-reactive protein concentration (HP:0011227)
Associated disease: IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION (OMIM:619381)
Gene: SYN1
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 50 (OMIM:300115)
Gene: SYN1
Phenotype: Seizure (HP:0001250)
Associated disease: X-linked epilepsy-learning disabilities-behavior disorders syndrome (ORPHA:85294)
Gene: SYN1
Phenotype: Seizure (HP:0001250)
Associated disease: EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS (OMIM:300491)
Gene: SYN1
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS (OMIM:300491)
Gene: SYN1
Phenotype: Specific learning disability (HP:0001328)
Associated disease: X-linked epilepsy-learning disabilities-behavior disorders syndrome (ORPHA:85294)
Gene: SYN1
Phenotype: Specific learning disability (HP:0001328)
Associated disease: EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS (OMIM:300491)
Gene: SYN1
Phenotype: X-linked dominant inheritance (HP:0001423)
Associated disease: EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS (OMIM:300491)
Gene: SYN1
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS (OMIM:300491)
Gene: SYN1
Phenotype: X-linked inheritance (HP:0001417)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 50 (OMIM:300115)
Gene: SYN1
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: X-linked epilepsy-learning disabilities-behavior disorders syndrome (ORPHA:85294)
Gene: SYN1
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS (OMIM:300491)
Gene: SYN1
Phenotype: Autistic behavior (HP:0000729)
Associated disease: EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS (OMIM:300491)
Gene: SYN1
Phenotype: Macrocephaly (HP:0000256)
Associated disease: X-linked epilepsy-learning disabilities-behavior disorders syndrome (ORPHA:85294)
Gene: SYN1
Phenotype: Macrocephaly (HP:0000256)
Associated disease: EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS (OMIM:300491)
Gene: SYN2
Phenotype: Negativism (HP:0410291)
Associated disease: SCHIZOPHRENIA (OMIM:181500)
Gene: SYN2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SCHIZOPHRENIA (OMIM:181500)
Gene: SYN2
Phenotype: Schizophrenia (HP:0100753)
Associated disease: SCHIZOPHRENIA (OMIM:181500)
Gene: SYN2
Phenotype: Social and occupational deterioration (HP:0007086)
Associated disease: SCHIZOPHRENIA (OMIM:181500)
Gene: SYN2
Phenotype: EEG abnormality (HP:0002353)
Associated disease: SCHIZOPHRENIA (OMIM:181500)
Gene: SYN2
Phenotype: Hallucinations (HP:0000738)
Associated disease: SCHIZOPHRENIA (OMIM:181500)
Gene: SYN2
Phenotype: Delusion (HP:0000746)
Associated disease: SCHIZOPHRENIA (OMIM:181500)
Gene: SYP
Phenotype: Seizure (HP:0001250)
Associated disease: MENTAL RETARDATION, X-LINKED 96 (OMIM:300802)
Gene: SYP
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MENTAL RETARDATION, X-LINKED 96 (OMIM:300802)
Gene: SYP
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: MENTAL RETARDATION, X-LINKED 96 (OMIM:300802)
Gene: SYT1
Phenotype: Hyperkinetic movements (HP:0002487)
Associated disease: BAGOS; Baker-Gordon syndrome; SYT1-related neurodevelopmental disorder; Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome (ORPHA:522077)
Gene: SYT1
Phenotype: Hyperkinetic movements (HP:0002487)
Associated disease: BAKER-GORDON SYNDROME (OMIM:618218)
Gene: SYT1
Phenotype: Poor speech (HP:0002465)
Associated disease: BAGOS; Baker-Gordon syndrome; SYT1-related neurodevelopmental disorder; Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome (ORPHA:522077)
Gene: SYT1
Phenotype: Poor visual behavior for age (HP:0025152)
Associated disease: BAGOS; Baker-Gordon syndrome; SYT1-related neurodevelopmental disorder; Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome (ORPHA:522077)
Gene: SYT1
Phenotype: EEG with spike-wave complexes (HP:0010850)
Associated disease: BAGOS; Baker-Gordon syndrome; SYT1-related neurodevelopmental disorder; Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome (ORPHA:522077)
Gene: SYT1
Phenotype: Dermoid cyst (HP:0025247)
Associated disease: BAGOS; Baker-Gordon syndrome; SYT1-related neurodevelopmental disorder; Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome (ORPHA:522077)
Gene: SYT1
Phenotype: Motor delay (HP:0001270)
Associated disease: BAGOS; Baker-Gordon syndrome; SYT1-related neurodevelopmental disorder; Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome (ORPHA:522077)
Gene: SYT1
Phenotype: Ataxia (HP:0001251)
Associated disease: BAKER-GORDON SYNDROME (OMIM:618218)
Gene: SYT1
Phenotype: Ataxia (HP:0001251)
Associated disease: BAGOS; Baker-Gordon syndrome; SYT1-related neurodevelopmental disorder; Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome (ORPHA:522077)
Gene: SYT1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: BAGOS; Baker-Gordon syndrome; SYT1-related neurodevelopmental disorder; Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome (ORPHA:522077)
Gene: SYT1
Phenotype: Choreoathetosis (HP:0001266)
Associated disease: BAGOS; Baker-Gordon syndrome; SYT1-related neurodevelopmental disorder; Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome (ORPHA:522077)
Gene: SYT1
Phenotype: Choreoathetosis (HP:0001266)
Associated disease: BAKER-GORDON SYNDROME (OMIM:618218)
Gene: SYT1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: BAKER-GORDON SYNDROME (OMIM:618218)
Gene: SYT1
Phenotype: Repetitive compulsive behavior (HP:0008762)
Associated disease: BAGOS; Baker-Gordon syndrome; SYT1-related neurodevelopmental disorder; Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome (ORPHA:522077)
Gene: SYT1
Phenotype: Inability to walk (HP:0002540)
Associated disease: BAKER-GORDON SYNDROME (OMIM:618218)
Gene: SYT1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: BAKER-GORDON SYNDROME (OMIM:618218)
Gene: SYT1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: BAGOS; Baker-Gordon syndrome; SYT1-related neurodevelopmental disorder; Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome (ORPHA:522077)
Gene: SYT1
Phenotype: Dystonia (HP:0001332)
Associated disease: BAKER-GORDON SYNDROME (OMIM:618218)
Gene: SYT1
Phenotype: Dystonia (HP:0001332)
Associated disease: BAGOS; Baker-Gordon syndrome; SYT1-related neurodevelopmental disorder; Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome (ORPHA:522077)
Gene: SYT1
Phenotype: Absent speech (HP:0001344)
Associated disease: BAKER-GORDON SYNDROME (OMIM:618218)