TaoMedAI/RareMedData huggingface dataset:
Gene: DNMT3A
Phenotype: Widely-spaced maxillary central incisors (HP:0001566)
Associated disease: DNMT3A-related overgrowth syndrome; Tatton-Brown-Rahman overgrowth syndrome; Tatton-Brown-Rahman syndrome (ORPHA:404443)
Gene: DNMT3A
Phenotype: Microcephaly (HP:0000252)
Associated disease: HEYN-SPROUL-JACKSON SYNDROME (OMIM:618724)
Gene: DNMT3A
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DNMT3A
Phenotype: Overgrowth (HP:0001548)
Associated disease: TATTON-BROWN-RAHMAN SYNDROME (OMIM:615879)
Gene: DNMT3A
Phenotype: Thin vermilion border (HP:0000233)
Associated disease: TATTON-BROWN-RAHMAN SYNDROME (OMIM:615879)
Gene: DNMT3A
Phenotype: Hemihypertrophy (HP:0001528)
Associated disease: TATTON-BROWN-RAHMAN SYNDROME (OMIM:615879)
Gene: DNMT3A
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DNMT3A
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: DNMT3A-related overgrowth syndrome; Tatton-Brown-Rahman overgrowth syndrome; Tatton-Brown-Rahman syndrome (ORPHA:404443)
Gene: DNMT3A
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: TATTON-BROWN-RAHMAN SYNDROME (OMIM:615879)
Gene: DNMT3A
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DNMT3A
Phenotype: Paraganglioma of head and neck (HP:0002864)
Associated disease: Sporadic pheochromocytoma/secreting paraganglioma (ORPHA:276621)
Gene: DNMT3A
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DNMT3A
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: HEYN-SPROUL-JACKSON SYNDROME (OMIM:618724)
Gene: DNMT3A
Phenotype: Obesity (HP:0001513)
Associated disease: DNMT3A-related overgrowth syndrome; Tatton-Brown-Rahman overgrowth syndrome; Tatton-Brown-Rahman syndrome (ORPHA:404443)
Gene: DNMT3A
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DNMT3A
Phenotype: Fatigue (HP:0012378)
Associated disease: Sporadic pheochromocytoma/secreting paraganglioma (ORPHA:276621)
Gene: DNMT3A
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DNMT3A
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DNMT3A
Phenotype: Vocal cord paralysis (HP:0001605)
Associated disease: Sporadic pheochromocytoma/secreting paraganglioma (ORPHA:276621)
Gene: DNMT3A
Phenotype: Dysphonia (HP:0001618)
Associated disease: Sporadic pheochromocytoma/secreting paraganglioma (ORPHA:276621)
Gene: DNMT3A
Phenotype: Tricuspid regurgitation (HP:0005180)
Associated disease: TATTON-BROWN-RAHMAN SYNDROME (OMIM:615879)
Gene: DNMT3A
Phenotype: Tricuspid regurgitation (HP:0005180)
Associated disease: DNMT3A-related overgrowth syndrome; Tatton-Brown-Rahman overgrowth syndrome; Tatton-Brown-Rahman syndrome (ORPHA:404443)
Gene: DNMT3A
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DNMT3A
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DNMT3A
Phenotype: Myeloid leukemia (HP:0012324)
Associated disease: DNMT3A-related overgrowth syndrome; Tatton-Brown-Rahman overgrowth syndrome; Tatton-Brown-Rahman syndrome (ORPHA:404443)
Gene: DNMT3A
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DNMT3A
Phenotype: Broad forehead (HP:0000337)
Associated disease: HEYN-SPROUL-JACKSON SYNDROME (OMIM:618724)
Gene: DNMT3A
Phenotype: Hypertelorism (HP:0000316)
Associated disease: DNMT3A-related overgrowth syndrome; Tatton-Brown-Rahman overgrowth syndrome; Tatton-Brown-Rahman syndrome (ORPHA:404443)
Gene: DNMT3A
Phenotype: Hypertelorism (HP:0000316)
Associated disease: TATTON-BROWN-RAHMAN SYNDROME (OMIM:615879)
Gene: DNMT3A
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: DNMT3A-related overgrowth syndrome; Tatton-Brown-Rahman overgrowth syndrome; Tatton-Brown-Rahman syndrome (ORPHA:404443)
Gene: DNMT3A
Phenotype: Round face (HP:0000311)
Associated disease: TATTON-BROWN-RAHMAN SYNDROME (OMIM:615879)
Gene: DNMT3A
Phenotype: Round face (HP:0000311)
Associated disease: DNMT3A-related overgrowth syndrome; Tatton-Brown-Rahman overgrowth syndrome; Tatton-Brown-Rahman syndrome (ORPHA:404443)
Gene: DNMT3A
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DNMT3A
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease: TATTON-BROWN-RAHMAN SYNDROME (OMIM:615879)
Gene: DNMT3A
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease: DNMT3A-related overgrowth syndrome; Tatton-Brown-Rahman overgrowth syndrome; Tatton-Brown-Rahman syndrome (ORPHA:404443)
Gene: DNMT3A
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: TATTON-BROWN-RAHMAN SYNDROME (OMIM:615879)
Gene: DNMT3A
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DNMT3A
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: Sporadic pheochromocytoma/secreting paraganglioma (ORPHA:276621)
Gene: DNMT3A
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: DNMT3A-related overgrowth syndrome; Tatton-Brown-Rahman overgrowth syndrome; Tatton-Brown-Rahman syndrome (ORPHA:404443)
Gene: DNMT3A
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: TATTON-BROWN-RAHMAN SYNDROME (OMIM:615879)
Gene: DNMT3A
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: DNMT3A-related overgrowth syndrome; Tatton-Brown-Rahman overgrowth syndrome; Tatton-Brown-Rahman syndrome (ORPHA:404443)
Gene: DNMT3A
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DNMT3A
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Sporadic pheochromocytoma/secreting paraganglioma (ORPHA:276621)
Gene: DNMT3A
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DNMT3A
Phenotype: Strabismus (HP:0000486)
Associated disease: HEYN-SPROUL-JACKSON SYNDROME (OMIM:618724)
Gene: DNMT3A
Phenotype: Anteverted nares (HP:0000463)
Associated disease: TATTON-BROWN-RAHMAN SYNDROME (OMIM:615879)
Gene: DNMT3A
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DNMT3A
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DNMT3A
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DNMT3A
Phenotype: Adrenal pheochromocytoma (HP:0006748)
Associated disease: Sporadic pheochromocytoma/secreting paraganglioma (ORPHA:276621)
Gene: DNMT3A
Phenotype: Extraadrenal pheochromocytoma (HP:0006737)
Associated disease: Sporadic pheochromocytoma/secreting paraganglioma (ORPHA:276621)
Gene: DNMT3A
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DNMT3A
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DNMT3A
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DNMT3A
Phenotype: Weight loss (HP:0001824)
Associated disease: Sporadic pheochromocytoma/secreting paraganglioma (ORPHA:276621)
Gene: DNMT3A
Phenotype: Short toe (HP:0001831)
Associated disease: DNMT3A-related overgrowth syndrome; Tatton-Brown-Rahman overgrowth syndrome; Tatton-Brown-Rahman syndrome (ORPHA:404443)
Gene: DNMT3A
Phenotype: Blepharophimosis (HP:0000581)
Associated disease: TATTON-BROWN-RAHMAN SYNDROME (OMIM:615879)
Gene: DNMT3A
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DNMT3A
Phenotype: Horizontal eyebrow (HP:0011228)
Associated disease: TATTON-BROWN-RAHMAN SYNDROME (OMIM:615879)
Gene: DNMT3A
Phenotype: Thick eyebrow (HP:0000574)
Associated disease: DNMT3A-related overgrowth syndrome; Tatton-Brown-Rahman overgrowth syndrome; Tatton-Brown-Rahman syndrome (ORPHA:404443)
Gene: DNMT3A
Phenotype: Thick eyebrow (HP:0000574)
Associated disease: TATTON-BROWN-RAHMAN SYNDROME (OMIM:615879)
Gene: DNMT3A
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DNMT3A
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DNMT3B
Phenotype: Gait disturbance (HP:0001288)
Associated disease: FSH dystrophy; Landouzy-Dejerine myopathy; Facioscapulohumeral dystrophy; Landouzy-Dejerine dystrophy; Facioscapulohumeral muscular dystrophy; Facioscapulohumeral myopathy; FSHD (ORPHA:269)
Gene: DNMT3B
Phenotype: Seizure (HP:0001250)
Associated disease: FSH dystrophy; Landouzy-Dejerine myopathy; Facioscapulohumeral dystrophy; Landouzy-Dejerine dystrophy; Facioscapulohumeral muscular dystrophy; Facioscapulohumeral myopathy; FSHD (ORPHA:269)
Gene: DNMT3B
Phenotype: Intellectual disability (HP:0001249)
Associated disease: IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1 (OMIM:242860)
Gene: DNMT3B
Phenotype: Intellectual disability (HP:0001249)
Associated disease: ICF syndrome; Immunodeficiency-centromeric instability-facial anomalies syndrome; Immunodeficiency-centromeric instability-facial dysmorphism syndrome (ORPHA:2268)
Gene: DNMT3B
Phenotype: Global developmental delay (HP:0001263)
Associated disease: ICF syndrome; Immunodeficiency-centromeric instability-facial anomalies syndrome; Immunodeficiency-centromeric instability-facial dysmorphism syndrome (ORPHA:2268)
Gene: DNMT3B
Phenotype: Digenic inheritance (HP:0010984)
Associated disease: FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 4, DIGENIC (OMIM:619478)
Gene: DNMT3B
Phenotype: Pectoralis amyotrophy (HP:0012037)
Associated disease: FSH dystrophy; Landouzy-Dejerine myopathy; Facioscapulohumeral dystrophy; Landouzy-Dejerine dystrophy; Facioscapulohumeral muscular dystrophy; Facioscapulohumeral myopathy; FSHD (ORPHA:269)
Gene: DNMT3B
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1 (OMIM:242860)
Gene: DNMT3B
Phenotype: Communicating hydrocephalus (HP:0001334)
Associated disease: ICF syndrome; Immunodeficiency-centromeric instability-facial anomalies syndrome; Immunodeficiency-centromeric instability-facial dysmorphism syndrome (ORPHA:2268)
Gene: DNMT3B
Phenotype: Scoliosis (HP:0002650)
Associated disease: FSH dystrophy; Landouzy-Dejerine myopathy; Facioscapulohumeral dystrophy; Landouzy-Dejerine dystrophy; Facioscapulohumeral muscular dystrophy; Facioscapulohumeral myopathy; FSHD (ORPHA:269)
Gene: DNMT3B
Phenotype: Macroglossia (HP:0000158)
Associated disease: ICF syndrome; Immunodeficiency-centromeric instability-facial anomalies syndrome; Immunodeficiency-centromeric instability-facial dysmorphism syndrome (ORPHA:2268)
Gene: DNMT3B
Phenotype: Macroglossia (HP:0000158)
Associated disease: IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1 (OMIM:242860)
Gene: DNMT3B
Phenotype: Distal upper limb muscle weakness (HP:0008959)
Associated disease: FSH dystrophy; Landouzy-Dejerine myopathy; Facioscapulohumeral dystrophy; Landouzy-Dejerine dystrophy; Facioscapulohumeral muscular dystrophy; Facioscapulohumeral myopathy; FSHD (ORPHA:269)
Gene: DNMT3B
Phenotype: Decreased circulating IgA concentration (HP:0002720)
Associated disease: IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1 (OMIM:242860)
Gene: DNMT3B
Phenotype: Immunodeficiency (HP:0002721)
Associated disease: ICF syndrome; Immunodeficiency-centromeric instability-facial anomalies syndrome; Immunodeficiency-centromeric instability-facial dysmorphism syndrome (ORPHA:2268)
Gene: DNMT3B
Phenotype: Immunodeficiency (HP:0002721)
Associated disease: IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1 (OMIM:242860)
Gene: DNMT3B
Phenotype: Malabsorption (HP:0002024)
Associated disease: ICF syndrome; Immunodeficiency-centromeric instability-facial anomalies syndrome; Immunodeficiency-centromeric instability-facial dysmorphism syndrome (ORPHA:2268)
Gene: DNMT3B
Phenotype: Malabsorption (HP:0002024)
Associated disease: IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1 (OMIM:242860)
Gene: DNMT3B
Phenotype: Limb-girdle muscle weakness (HP:0003325)
Associated disease: FSH dystrophy; Landouzy-Dejerine myopathy; Facioscapulohumeral dystrophy; Landouzy-Dejerine dystrophy; Facioscapulohumeral muscular dystrophy; Facioscapulohumeral myopathy; FSHD (ORPHA:269)
Gene: DNMT3B
Phenotype: Diarrhea (HP:0002014)
Associated disease: IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1 (OMIM:242860)
Gene: DNMT3B
Phenotype: Decreased facial expression (HP:0004673)
Associated disease: FSH dystrophy; Landouzy-Dejerine myopathy; Facioscapulohumeral dystrophy; Landouzy-Dejerine dystrophy; Facioscapulohumeral muscular dystrophy; Facioscapulohumeral myopathy; FSHD (ORPHA:269)
Gene: DNMT3B
Phenotype: Hyperlordosis (HP:0003307)
Associated disease: FSH dystrophy; Landouzy-Dejerine myopathy; Facioscapulohumeral dystrophy; Landouzy-Dejerine dystrophy; Facioscapulohumeral muscular dystrophy; Facioscapulohumeral myopathy; FSHD (ORPHA:269)
Gene: DNMT3B
Phenotype: Progressive muscle weakness (HP:0003323)
Associated disease: FSH dystrophy; Landouzy-Dejerine myopathy; Facioscapulohumeral dystrophy; Landouzy-Dejerine dystrophy; Facioscapulohumeral muscular dystrophy; Facioscapulohumeral myopathy; FSHD (ORPHA:269)
Gene: DNMT3B
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: FSH dystrophy; Landouzy-Dejerine myopathy; Facioscapulohumeral dystrophy; Landouzy-Dejerine dystrophy; Facioscapulohumeral muscular dystrophy; Facioscapulohumeral myopathy; FSHD (ORPHA:269)
Gene: DNMT3B
Phenotype: Pneumonia (HP:0002090)
Associated disease: IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1 (OMIM:242860)
Gene: DNMT3B
Phenotype: Restrictive ventilatory defect (HP:0002091)
Associated disease: FSH dystrophy; Landouzy-Dejerine myopathy; Facioscapulohumeral dystrophy; Landouzy-Dejerine dystrophy; Facioscapulohumeral muscular dystrophy; Facioscapulohumeral myopathy; FSHD (ORPHA:269)
Gene: DNMT3B
Phenotype: Steppage gait (HP:0003376)
Associated disease: FSH dystrophy; Landouzy-Dejerine myopathy; Facioscapulohumeral dystrophy; Landouzy-Dejerine dystrophy; Facioscapulohumeral muscular dystrophy; Facioscapulohumeral myopathy; FSHD (ORPHA:269)
Gene: DNMT3B
Phenotype: Complete right bundle branch block (HP:0011712)
Associated disease: FSH dystrophy; Landouzy-Dejerine myopathy; Facioscapulohumeral dystrophy; Landouzy-Dejerine dystrophy; Facioscapulohumeral muscular dystrophy; Facioscapulohumeral myopathy; FSHD (ORPHA:269)
Gene: DNMT3B
Phenotype: Camptocormia (HP:0100595)
Associated disease: FSH dystrophy; Landouzy-Dejerine myopathy; Facioscapulohumeral dystrophy; Landouzy-Dejerine dystrophy; Facioscapulohumeral muscular dystrophy; Facioscapulohumeral myopathy; FSHD (ORPHA:269)
Gene: DNMT3B
Phenotype: Upper limb muscle weakness (HP:0003484)
Associated disease: FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 4, DIGENIC (OMIM:619478)
Gene: DNMT3B
Phenotype: EMG: myopathic abnormalities (HP:0003458)
Associated disease: FSH dystrophy; Landouzy-Dejerine myopathy; Facioscapulohumeral dystrophy; Landouzy-Dejerine dystrophy; Facioscapulohumeral muscular dystrophy; Facioscapulohumeral myopathy; FSHD (ORPHA:269)
Gene: DNMT3B
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1 (OMIM:242860)
Gene: DNMT3B
Phenotype: Increased circulating IgM level (HP:0003496)
Associated disease: IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1 (OMIM:242860)
Gene: DNMT3B
Phenotype: Adult onset (HP:0003581)
Associated disease: FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 4, DIGENIC (OMIM:619478)
Gene: DNMT3B
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: ICF syndrome; Immunodeficiency-centromeric instability-facial anomalies syndrome; Immunodeficiency-centromeric instability-facial dysmorphism syndrome (ORPHA:2268)
Gene: DNMT3B
Phenotype: Scapular winging (HP:0003691)
Associated disease: FSH dystrophy; Landouzy-Dejerine myopathy; Facioscapulohumeral dystrophy; Landouzy-Dejerine dystrophy; Facioscapulohumeral muscular dystrophy; Facioscapulohumeral myopathy; FSHD (ORPHA:269)
Gene: DNMT3B
Phenotype: Frequent falls (HP:0002359)
Associated disease: FSH dystrophy; Landouzy-Dejerine myopathy; Facioscapulohumeral dystrophy; Landouzy-Dejerine dystrophy; Facioscapulohumeral muscular dystrophy; Facioscapulohumeral myopathy; FSHD (ORPHA:269)
Gene: DNMT3B
Phenotype: Protruding tongue (HP:0010808)
Associated disease: IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1 (OMIM:242860)
Gene: DNMT3B
Phenotype: Protruding tongue (HP:0010808)
Associated disease: ICF syndrome; Immunodeficiency-centromeric instability-facial anomalies syndrome; Immunodeficiency-centromeric instability-facial dysmorphism syndrome (ORPHA:2268)
Gene: DNMT3B
Phenotype: Anemia (HP:0001903)
Associated disease: ICF syndrome; Immunodeficiency-centromeric instability-facial anomalies syndrome; Immunodeficiency-centromeric instability-facial dysmorphism syndrome (ORPHA:2268)
Gene: DNMT3B
Phenotype: Abdominal wall muscle weakness (HP:0009023)
Associated disease: FSH dystrophy; Landouzy-Dejerine myopathy; Facioscapulohumeral dystrophy; Landouzy-Dejerine dystrophy; Facioscapulohumeral muscular dystrophy; Facioscapulohumeral myopathy; FSHD (ORPHA:269)
Gene: DNMT3B
Phenotype: Foot dorsiflexor weakness (HP:0009027)
Associated disease: FSH dystrophy; Landouzy-Dejerine myopathy; Facioscapulohumeral dystrophy; Landouzy-Dejerine dystrophy; Facioscapulohumeral muscular dystrophy; Facioscapulohumeral myopathy; FSHD (ORPHA:269)
Gene: DNMT3B
Phenotype: Short stature (HP:0004322)
Associated disease: IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1 (OMIM:242860)
Gene: DNMT3B
Phenotype: Short stature (HP:0004322)
Associated disease: ICF syndrome; Immunodeficiency-centromeric instability-facial anomalies syndrome; Immunodeficiency-centromeric instability-facial dysmorphism syndrome (ORPHA:2268)
Gene: DNMT3B
Phenotype: Decreased circulating immunoglobulin concentration (HP:0004313)
Associated disease: ICF syndrome; Immunodeficiency-centromeric instability-facial anomalies syndrome; Immunodeficiency-centromeric instability-facial dysmorphism syndrome (ORPHA:2268)
Gene: DNMT3B
Phenotype: Beevor's sign (HP:0030664)
Associated disease: FSH dystrophy; Landouzy-Dejerine myopathy; Facioscapulohumeral dystrophy; Landouzy-Dejerine dystrophy; Facioscapulohumeral muscular dystrophy; Facioscapulohumeral myopathy; FSHD (ORPHA:269)
Gene: DNMT3B
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: FSH dystrophy; Landouzy-Dejerine myopathy; Facioscapulohumeral dystrophy; Landouzy-Dejerine dystrophy; Facioscapulohumeral muscular dystrophy; Facioscapulohumeral myopathy; FSHD (ORPHA:269)
Gene: DNMT3B
Phenotype: Short nose (HP:0003196)
Associated disease: IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1 (OMIM:242860)
Gene: DNMT3B
Phenotype: Chronic bronchitis (HP:0004469)
Associated disease: IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1 (OMIM:242860)
Gene: DNMT3B
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: FSH dystrophy; Landouzy-Dejerine myopathy; Facioscapulohumeral dystrophy; Landouzy-Dejerine dystrophy; Facioscapulohumeral muscular dystrophy; Facioscapulohumeral myopathy; FSHD (ORPHA:269)
Gene: DNMT3B
Phenotype: Abnormality of chromosome stability (HP:0003220)
Associated disease: ICF syndrome; Immunodeficiency-centromeric instability-facial anomalies syndrome; Immunodeficiency-centromeric instability-facial dysmorphism syndrome (ORPHA:2268)
Gene: DNMT3B
Phenotype: Reduced total natural killer cell count (HP:0040218)
Associated disease: IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1 (OMIM:242860)
Gene: DNMT3B
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: FSH dystrophy; Landouzy-Dejerine myopathy; Facioscapulohumeral dystrophy; Landouzy-Dejerine dystrophy; Facioscapulohumeral muscular dystrophy; Facioscapulohumeral myopathy; FSHD (ORPHA:269)
Gene: DNMT3B
Phenotype: Abnormal retinal vascular morphology (HP:0008046)
Associated disease: FSH dystrophy; Landouzy-Dejerine myopathy; Facioscapulohumeral dystrophy; Landouzy-Dejerine dystrophy; Facioscapulohumeral muscular dystrophy; Facioscapulohumeral myopathy; FSHD (ORPHA:269)
Gene: DNMT3B
Phenotype: Epicanthus (HP:0000286)
Associated disease: IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1 (OMIM:242860)
Gene: DNMT3B
Phenotype: Epicanthus (HP:0000286)
Associated disease: ICF syndrome; Immunodeficiency-centromeric instability-facial anomalies syndrome; Immunodeficiency-centromeric instability-facial dysmorphism syndrome (ORPHA:2268)
Gene: DNMT3B
Phenotype: Mask-like facies (HP:0000298)
Associated disease: FSH dystrophy; Landouzy-Dejerine myopathy; Facioscapulohumeral dystrophy; Landouzy-Dejerine dystrophy; Facioscapulohumeral muscular dystrophy; Facioscapulohumeral myopathy; FSHD (ORPHA:269)
Gene: DNMT3B
Phenotype: Macrocephaly (HP:0000256)
Associated disease: ICF syndrome; Immunodeficiency-centromeric instability-facial anomalies syndrome; Immunodeficiency-centromeric instability-facial dysmorphism syndrome (ORPHA:2268)
Gene: DNMT3B
Phenotype: Malar flattening (HP:0000272)
Associated disease: IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1 (OMIM:242860)
Gene: DNMT3B
Phenotype: Supraventricular arrhythmia (HP:0005115)
Associated disease: FSH dystrophy; Landouzy-Dejerine myopathy; Facioscapulohumeral dystrophy; Landouzy-Dejerine dystrophy; Facioscapulohumeral muscular dystrophy; Facioscapulohumeral myopathy; FSHD (ORPHA:269)
Gene: DNMT3B
Phenotype: Sinusitis (HP:0000246)
Associated disease: IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1 (OMIM:242860)
Gene: DNMT3B
Phenotype: Nocturnal lagophthalmos (HP:0030002)
Associated disease: FSH dystrophy; Landouzy-Dejerine myopathy; Facioscapulohumeral dystrophy; Landouzy-Dejerine dystrophy; Facioscapulohumeral muscular dystrophy; Facioscapulohumeral myopathy; FSHD (ORPHA:269)
Gene: DNMT3B
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: ICF syndrome; Immunodeficiency-centromeric instability-facial anomalies syndrome; Immunodeficiency-centromeric instability-facial dysmorphism syndrome (ORPHA:2268)
Gene: DNMT3B
Phenotype: Protuberant abdomen (HP:0001538)
Associated disease: FSH dystrophy; Landouzy-Dejerine myopathy; Facioscapulohumeral dystrophy; Landouzy-Dejerine dystrophy; Facioscapulohumeral muscular dystrophy; Facioscapulohumeral myopathy; FSHD (ORPHA:269)
Gene: DNMT3B
Phenotype: Failure to thrive (HP:0001508)
Associated disease: IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1 (OMIM:242860)
Gene: DNMT3B
Phenotype: Flat face (HP:0012368)
Associated disease: ICF syndrome; Immunodeficiency-centromeric instability-facial anomalies syndrome; Immunodeficiency-centromeric instability-facial dysmorphism syndrome (ORPHA:2268)
Gene: DNMT3B
Phenotype: Flat face (HP:0012368)
Associated disease: IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1 (OMIM:242860)
Gene: DNMT3B
Phenotype: Straight clavicles (HP:0006587)
Associated disease: FSH dystrophy; Landouzy-Dejerine myopathy; Facioscapulohumeral dystrophy; Landouzy-Dejerine dystrophy; Facioscapulohumeral muscular dystrophy; Facioscapulohumeral myopathy; FSHD (ORPHA:269)
Gene: DNMT3B
Phenotype: Exudative retinopathy (HP:0007898)
Associated disease: FSH dystrophy; Landouzy-Dejerine myopathy; Facioscapulohumeral dystrophy; Landouzy-Dejerine dystrophy; Facioscapulohumeral muscular dystrophy; Facioscapulohumeral myopathy; FSHD (ORPHA:269)
Gene: DNMT3B
Phenotype: Low-set ears (HP:0000369)
Associated disease: IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1 (OMIM:242860)