TaoMedAI/RareMedData huggingface dataset:
Gene: TNFRSF13C
Phenotype: Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vaccine (HP:0410300)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 4 (OMIM:613494)
Gene: TNFRSF13C
Phenotype: Neoplasm (HP:0002664)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 2 (OMIM:240500)
Gene: TNFRSF13C
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 4 (OMIM:613494)
Gene: TNFRSF13C
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 2 (OMIM:240500)
Gene: TNFRSF13C
Phenotype: Lymphoma (HP:0002665)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 2 (OMIM:240500)
Gene: TNFRSF13C
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 2 (OMIM:240500)
Gene: TNFRSF13C
Phenotype: Recurrent bacterial infections (HP:0002718)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 2 (OMIM:240500)
Gene: TNFRSF13C
Phenotype: Recurrent bacterial infections (HP:0002718)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 4 (OMIM:613494)
Gene: TNFRSF13C
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 2 (OMIM:240500)
Gene: TNFRSF13C
Phenotype: Follicular hyperplasia (HP:0002729)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 2 (OMIM:240500)
Gene: TNFRSF13C
Phenotype: Decreased circulating IgA concentration (HP:0002720)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 2 (OMIM:240500)
Gene: TNFRSF13C
Phenotype: Diarrhea (HP:0002014)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 2 (OMIM:240500)
Gene: TNFRSF13C
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 2 (OMIM:240500)
Gene: TNFRSF13C
Phenotype: Abnormality of T cell physiology (HP:0011840)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 2 (OMIM:240500)
Gene: TNFRSF13C
Phenotype: Abnormal T cell count (HP:0011839)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 2 (OMIM:240500)
Gene: TNFRSF13C
Phenotype: Abnormal T cell count (HP:0011839)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 4 (OMIM:613494)
Gene: TNFRSF13C
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 2 (OMIM:240500)
Gene: TNFRSF13C
Phenotype: Adult onset (HP:0003581)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 4 (OMIM:613494)
Gene: TNFRSF13C
Phenotype: Decreased circulating IgG concentration (HP:0004315)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 2 (OMIM:240500)
Gene: TNFRSF13C
Phenotype: Decreased circulating IgG concentration (HP:0004315)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 4 (OMIM:613494)
Gene: TNFRSF13C
Phenotype: Recurrent bronchitis (HP:0002837)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 2 (OMIM:240500)
Gene: TNFRSF13C
Phenotype: Decreased circulating total IgM (HP:0002850)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 4 (OMIM:613494)
Gene: TNFRSF13C
Phenotype: Decreased circulating total IgM (HP:0002850)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 2 (OMIM:240500)
Gene: TNFRSF13C
Phenotype: Recurrent pneumonia (HP:0006532)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 2 (OMIM:240500)
Gene: TNFRSF13C
Phenotype: Recurrent pneumonia (HP:0006532)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 4 (OMIM:613494)
Gene: TNFRSF13C
Phenotype: Autoimmunity (HP:0002960)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 2 (OMIM:240500)
Gene: TNFRSF13C
Phenotype: Combined immunodeficiency (HP:0005387)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 2 (OMIM:240500)
Gene: TNFRSF13C
Phenotype: Combined immunodeficiency (HP:0005387)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 4 (OMIM:613494)
Gene: TNFRSF13C
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 2 (OMIM:240500)
Gene: TNFRSF13C
Phenotype: Recurrent sinusitis (HP:0011108)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 4 (OMIM:613494)
Gene: TNFRSF13C
Phenotype: Recurrent sinusitis (HP:0011108)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 2 (OMIM:240500)
Gene: TNFRSF13C
Phenotype: Splenomegaly (HP:0001744)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 2 (OMIM:240500)
Gene: TNFRSF13C
Phenotype: Conjunctivitis (HP:0000509)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 2 (OMIM:240500)
Gene: CTHRC1
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: BARRETT ESOPHAGUS (OMIM:614266)
Gene: CTHRC1
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: BARRETT ESOPHAGUS (OMIM:614266)
Gene: CTHRC1
Phenotype: Barrett esophagus (HP:0100580)
Associated disease: BARRETT ESOPHAGUS (OMIM:614266)
Gene: CTHRC1
Phenotype: Esophageal ulceration (HP:0004791)
Associated disease: BARRETT ESOPHAGUS (OMIM:614266)
Gene: CTHRC1
Phenotype: Esophageal carcinoma (HP:0011459)
Associated disease: BARRETT ESOPHAGUS (OMIM:614266)
Gene: ODAD3
Phenotype: Peribronchovascular interstitial thickening (HP:0025177)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD3
Phenotype: Intestinal malrotation (HP:0002566)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD3
Phenotype: Clubbing (HP:0001217)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 30 (OMIM:616037)
Gene: ODAD3
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD3
Phenotype: Abnormality of the genitourinary system (HP:0000119)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD3
Phenotype: Lithoptysis (HP:0032543)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD3
Phenotype: Productive cough (HP:0031245)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD3
Phenotype: Morphological central nervous system abnormality (HP:0002011)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD3
Phenotype: Asthma (HP:0002099)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 30 (OMIM:616037)
Gene: ODAD3
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 30 (OMIM:616037)
Gene: ODAD3
Phenotype: Nasal polyposis (HP:0100582)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD3
Phenotype: Nasal polyposis (HP:0100582)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 30 (OMIM:616037)
Gene: ODAD3
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD3
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD3
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 30 (OMIM:616037)
Gene: ODAD3
Phenotype: Female infertility (HP:0008222)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD3
Phenotype: Congenital onset (HP:0003577)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 30 (OMIM:616037)
Gene: ODAD3
Phenotype: Chronic rhinitis (HP:0002257)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD3
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 30 (OMIM:616037)
Gene: ODAD3
Phenotype: Atelectasis (HP:0100750)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD3
Phenotype: Abnormal sputum (HP:0032016)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD3
Phenotype: Respiratory tract infection (HP:0011947)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD3
Phenotype: Respiratory insufficiency due to defective ciliary clearance (HP:0200073)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 30 (OMIM:616037)
Gene: ODAD3
Phenotype: Anomalous pulmonary venous return (HP:0010772)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD3
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD3
Phenotype: Cough (HP:0012735)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 30 (OMIM:616037)
Gene: ODAD3
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD3
Phenotype: Abnormality of the skeletal system (HP:0000924)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD3
Phenotype: Chronic bronchitis (HP:0004469)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 30 (OMIM:616037)
Gene: ODAD3
Phenotype: Atrial situs ambiguous (HP:0011539)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD3
Phenotype: Abnormal atrial arrangement (HP:0011535)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD3
Phenotype: Wheezing (HP:0030828)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD3
Phenotype: Male infertility (HP:0003251)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD3
Phenotype: Pulmonary situs ambiguus (HP:0011617)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD3
Phenotype: Decreased nasal nitric oxide (HP:0033036)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 30 (OMIM:616037)
Gene: ODAD3
Phenotype: Abnormal inferior vena cava morphology (HP:0025576)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD3
Phenotype: Ciliary dyskinesia (HP:0012265)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 30 (OMIM:616037)
Gene: ODAD3
Phenotype: Absent outer dynein arms (HP:0012256)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 30 (OMIM:616037)
Gene: ODAD3
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD3
Phenotype: Abnormal sperm motility (HP:0012206)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD3
Phenotype: Respiratory failure (HP:0002878)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD3
Phenotype: Chronic otitis media (HP:0000389)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD3
Phenotype: Airway obstruction (HP:0006536)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD3
Phenotype: Situs inversus totalis (HP:0001696)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD3
Phenotype: Situs inversus totalis (HP:0001696)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 30 (OMIM:616037)
Gene: ODAD3
Phenotype: Hearing impairment (HP:0000365)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD3
Phenotype: Transposition of the great arteries (HP:0001669)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD3
Phenotype: Ectopic pregnancy (HP:0031456)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD3
Phenotype: Dextrocardia (HP:0001651)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 30 (OMIM:616037)
Gene: ODAD3
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 30 (OMIM:616037)
Gene: ODAD3
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD3
Phenotype: Persistent left superior vena cava (HP:0005301)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD3
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD3
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 30 (OMIM:616037)
Gene: ODAD3
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD3
Phenotype: Double outlet right ventricle (HP:0001719)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD3
Phenotype: Chronic sinusitis (HP:0011109)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD3
Phenotype: Chronic sinusitis (HP:0011109)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 30 (OMIM:616037)
Gene: ODAD3
Phenotype: Asplenia (HP:0001746)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD3
Phenotype: Polysplenia (HP:0001748)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD3
Phenotype: Nasal congestion (HP:0001742)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD3
Phenotype: Nasal congestion (HP:0001742)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 30 (OMIM:616037)
Gene: ODAD3
Phenotype: Recurrent sinopulmonary infections (HP:0005425)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD3
Phenotype: Recurrent mycobacterial infections (HP:0011274)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: ODAD3
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: SLC22A12
Phenotype: Uric acid urolithiasis independent of gout (HP:0008651)
Associated disease: Familial renal hypouricemia; Hereditary renal hypouricemia (ORPHA:94088)
Gene: SLC22A12
Phenotype: Renal tubular epithelial necrosis (HP:0008682)
Associated disease: HYPOURICEMIA, RENAL, 1 (OMIM:220150)
Gene: SLC22A12
Phenotype: Abnormal renal tubule morphology (HP:0000091)
Associated disease: Familial renal hypouricemia; Hereditary renal hypouricemia (ORPHA:94088)
Gene: SLC22A12
Phenotype: Proteinuria (HP:0000093)
Associated disease: HYPOURICEMIA, RENAL, 1 (OMIM:220150)
Gene: SLC22A12
Phenotype: Elevated fractional excretion of urate (HP:6000746)
Associated disease: HYPOURICEMIA, RENAL, 1 (OMIM:220150)
Gene: SLC22A12
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HYPOURICEMIA, RENAL, 1 (OMIM:220150)
Gene: SLC22A12
Phenotype: Postexertional symptom exacerbation (HP:0030973)
Associated disease: Familial renal hypouricemia; Hereditary renal hypouricemia (ORPHA:94088)
Gene: SLC22A12
Phenotype: Nausea (HP:0002018)
Associated disease: Familial renal hypouricemia; Hereditary renal hypouricemia (ORPHA:94088)
Gene: SLC22A12
Phenotype: Vomiting (HP:0002013)
Associated disease: Familial renal hypouricemia; Hereditary renal hypouricemia (ORPHA:94088)
Gene: SLC22A12
Phenotype: Oliguria (HP:0100520)
Associated disease: HYPOURICEMIA, RENAL, 1 (OMIM:220150)
Gene: SLC22A12
Phenotype: Renal cortical hyperechogenicity (HP:0033132)
Associated disease: HYPOURICEMIA, RENAL, 1 (OMIM:220150)
Gene: SLC22A12
Phenotype: Hypercalciuria (HP:0002150)
Associated disease: Familial renal hypouricemia; Hereditary renal hypouricemia (ORPHA:94088)
Gene: SLC22A12
Phenotype: Back pain (HP:0003418)
Associated disease: Familial renal hypouricemia; Hereditary renal hypouricemia (ORPHA:94088)
Gene: SLC22A12
Phenotype: Hypouricemia (HP:0003537)
Associated disease: HYPOURICEMIA, RENAL, 1 (OMIM:220150)
Gene: SLC22A12
Phenotype: Hypouricemia (HP:0003537)
Associated disease: Familial renal hypouricemia; Hereditary renal hypouricemia (ORPHA:94088)
Gene: SLC22A12
Phenotype: Chronic kidney disease (HP:0012622)
Associated disease: Familial renal hypouricemia; Hereditary renal hypouricemia (ORPHA:94088)
Gene: SLC22A12
Phenotype: Acute kidney injury (HP:0001919)
Associated disease: HYPOURICEMIA, RENAL, 1 (OMIM:220150)
Gene: SLC22A12
Phenotype: Acute kidney injury (HP:0001919)
Associated disease: Familial renal hypouricemia; Hereditary renal hypouricemia (ORPHA:94088)
Gene: SLC22A12
Phenotype: Uric acid nephrolithiasis (HP:0000791)
Associated disease: HYPOURICEMIA, RENAL, 1 (OMIM:220150)
Gene: SLC22A12
Phenotype: Hematuria (HP:0000790)
Associated disease: Familial renal hypouricemia; Hereditary renal hypouricemia (ORPHA:94088)
Gene: SLC22A12
Phenotype: Hyperuricosuria (HP:0003149)
Associated disease: HYPOURICEMIA, RENAL, 1 (OMIM:220150)
Gene: SLC22A12
Phenotype: Hyperuricosuria (HP:0003149)
Associated disease: Familial renal hypouricemia; Hereditary renal hypouricemia (ORPHA:94088)
Gene: SLC22A12
Phenotype: Increased blood urea nitrogen (HP:0003138)
Associated disease: Familial renal hypouricemia; Hereditary renal hypouricemia (ORPHA:94088)
Gene: SLC22A12
Phenotype: Elevated circulating creatinine concentration (HP:0003259)
Associated disease: HYPOURICEMIA, RENAL, 1 (OMIM:220150)
Gene: SLC22A12
Phenotype: Urolithiasis (HP:0034368)
Associated disease: HYPOURICEMIA, RENAL, 1 (OMIM:220150)
Gene: SLC22A12
Phenotype: Decreased glomerular filtration rate (HP:0012213)
Associated disease: Familial renal hypouricemia; Hereditary renal hypouricemia (ORPHA:94088)
Gene: SLC22A12
Phenotype: Abnormal renal physiology (HP:0012211)
Associated disease: Familial renal hypouricemia; Hereditary renal hypouricemia (ORPHA:94088)
Gene: SLC22A12
Phenotype: Late young adult onset (HP:0025710)
Associated disease: HYPOURICEMIA, RENAL, 1 (OMIM:220150)
Gene: SLC22A12
Phenotype: Intermediate young adult onset (HP:0025709)
Associated disease: HYPOURICEMIA, RENAL, 1 (OMIM:220150)
Gene: SLC22A12
Phenotype: Mild proteinuria (HP:0012595)
Associated disease: Familial renal hypouricemia; Hereditary renal hypouricemia (ORPHA:94088)
Gene: ZNF526
Phenotype: Simplified gyral pattern (HP:0009879)
Associated disease: DENTICI-NOVELLI NEURODEVELOPMENTAL SYNDROME (OMIM:619877)
Gene: ZNF526
Phenotype: Poor head control (HP:0002421)
Associated disease: DENTICI-NOVELLI NEURODEVELOPMENTAL SYNDROME (OMIM:619877)
Gene: ZNF526
Phenotype: Hypertonia (HP:0001276)
Associated disease: DENTICI-NOVELLI NEURODEVELOPMENTAL SYNDROME (OMIM:619877)
Gene: ZNF526
Phenotype: Inability to walk (HP:0002540)
Associated disease: DENTICI-NOVELLI NEURODEVELOPMENTAL SYNDROME (OMIM:619877)
Gene: ZNF526
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease: DENTICI-NOVELLI NEURODEVELOPMENTAL SYNDROME (OMIM:619877)
Gene: ZNF526
Phenotype: Thin corpus callosum (HP:0033725)
Associated disease: DENTICI-NOVELLI NEURODEVELOPMENTAL SYNDROME (OMIM:619877)
Gene: ZNF526
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DENTICI-NOVELLI NEURODEVELOPMENTAL SYNDROME (OMIM:619877)
Gene: ZNF526
Phenotype: Wide mouth (HP:0000154)
Associated disease: DENTICI-NOVELLI NEURODEVELOPMENTAL SYNDROME (OMIM:619877)
Gene: ZNF526
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: DENTICI-NOVELLI NEURODEVELOPMENTAL SYNDROME (OMIM:619877)
Gene: ZNF526
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: DENTICI-NOVELLI NEURODEVELOPMENTAL SYNDROME (OMIM:619877)
Gene: ZNF526
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: DENTICI-NOVELLI NEURODEVELOPMENTAL SYNDROME (OMIM:619877)
Gene: ZNF526
Phenotype: Infantile onset (HP:0003593)
Associated disease: DENTICI-NOVELLI NEURODEVELOPMENTAL SYNDROME (OMIM:619877)
Gene: ZNF526
Phenotype: Widely spaced teeth (HP:0000687)
Associated disease: DENTICI-NOVELLI NEURODEVELOPMENTAL SYNDROME (OMIM:619877)
Gene: ZNF526
Phenotype: Profound global developmental delay (HP:0012736)
Associated disease: DENTICI-NOVELLI NEURODEVELOPMENTAL SYNDROME (OMIM:619877)
Gene: ZNF526
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: DENTICI-NOVELLI NEURODEVELOPMENTAL SYNDROME (OMIM:619877)
Gene: ZNF526
Phenotype: Fetal onset (HP:0011461)
Associated disease: DENTICI-NOVELLI NEURODEVELOPMENTAL SYNDROME (OMIM:619877)
Gene: ZNF526
Phenotype: Precocious puberty (HP:0000826)
Associated disease: DENTICI-NOVELLI NEURODEVELOPMENTAL SYNDROME (OMIM:619877)
Gene: ZNF526
Phenotype: Microcephaly (HP:0000252)
Associated disease: DENTICI-NOVELLI NEURODEVELOPMENTAL SYNDROME (OMIM:619877)
Gene: ZNF526
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: DENTICI-NOVELLI NEURODEVELOPMENTAL SYNDROME (OMIM:619877)
Gene: ZNF526
Phenotype: Epileptic spasm (HP:0011097)
Associated disease: DENTICI-NOVELLI NEURODEVELOPMENTAL SYNDROME (OMIM:619877)
Gene: ZNF526
Phenotype: Hearing impairment (HP:0000365)
Associated disease: DENTICI-NOVELLI NEURODEVELOPMENTAL SYNDROME (OMIM:619877)
Gene: ZNF526
Phenotype: Sloping forehead (HP:0000340)
Associated disease: DENTICI-NOVELLI NEURODEVELOPMENTAL SYNDROME (OMIM:619877)
Gene: ZNF526
Phenotype: Myoclonic seizure (HP:0032794)
Associated disease: DENTICI-NOVELLI NEURODEVELOPMENTAL SYNDROME (OMIM:619877)
Gene: ZNF526
Phenotype: Hypertelorism (HP:0000316)
Associated disease: DENTICI-NOVELLI NEURODEVELOPMENTAL SYNDROME (OMIM:619877)
Gene: ZNF526
Phenotype: Pointed chin (HP:0000307)
Associated disease: DENTICI-NOVELLI NEURODEVELOPMENTAL SYNDROME (OMIM:619877)
Gene: ZNF526
Phenotype: Macrotia (HP:0000400)
Associated disease: DENTICI-NOVELLI NEURODEVELOPMENTAL SYNDROME (OMIM:619877)
Gene: ZNF526
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: DENTICI-NOVELLI NEURODEVELOPMENTAL SYNDROME (OMIM:619877)
Gene: ZNF526
Phenotype: Cataract (HP:0000518)
Associated disease: DENTICI-NOVELLI NEURODEVELOPMENTAL SYNDROME (OMIM:619877)
Gene: ZNF526
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: DENTICI-NOVELLI NEURODEVELOPMENTAL SYNDROME (OMIM:619877)
Gene: NUS1
Phenotype: Poor head control (HP:0002421)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: NUS1
Phenotype: Encephalopathy (HP:0001298)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: NUS1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: NUS1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iaa (OMIM:617082)
Gene: NUS1
Phenotype: Abnormal corpus callosum morphology (HP:0001273)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: NUS1
Phenotype: Motor delay (HP:0001270)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 55, WITH SEIZURES (OMIM:617831)
Gene: NUS1
Phenotype: Mental deterioration (HP:0001268)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: NUS1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: NUS1
Phenotype: Seizure (HP:0001250)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 55, WITH SEIZURES (OMIM:617831)
Gene: NUS1
Phenotype: Seizure (HP:0001250)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: NUS1
Phenotype: Ataxia (HP:0001251)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 55, WITH SEIZURES (OMIM:617831)
Gene: NUS1
Phenotype: Ataxia (HP:0001251)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: NUS1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 55, WITH SEIZURES (OMIM:617831)
Gene: NUS1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: NUS1
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: NUS1
Phenotype: Dysarthria (HP:0001260)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 55, WITH SEIZURES (OMIM:617831)