TaoMedAI/RareMedData huggingface dataset:
Gene: ANKRD11
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: ANKRD11
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ANKRD11
Phenotype: Scoliosis (HP:0002650)
Associated disease: ANKRD11-related disorder; KBG syndrome; Short stature-facial and skeletal anomalies-intellectual disability-macrodontia syndrome (ORPHA:2332)
Gene: ANKRD11
Phenotype: Scoliosis (HP:0002650)
Associated disease: Del(16)(q24.3); 16q24.3 microdeletion syndrome; Monosomy 16q24.3 (ORPHA:261250)
Gene: ANKRD11
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ANKRD11
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANKRD11
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ANKRD11
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANKRD11
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANKRD11
Phenotype: Cleft palate (HP:0000175)
Associated disease: ANKRD11-related disorder; KBG syndrome; Short stature-facial and skeletal anomalies-intellectual disability-macrodontia syndrome (ORPHA:2332)
Gene: ANKRD11
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANKRD11
Phenotype: Wide mouth (HP:0000154)
Associated disease: Del(16)(q24.3); 16q24.3 microdeletion syndrome; Monosomy 16q24.3 (ORPHA:261250)
Gene: ANKRD11
Phenotype: Solitary median maxillary central incisor (HP:0006315)
Associated disease: Del(16)(q24.3); 16q24.3 microdeletion syndrome; Monosomy 16q24.3 (ORPHA:261250)
Gene: ANKRD11
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: KBG SYNDROME (OMIM:148050)
Gene: ANKRD11
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: ANKRD11-related disorder; KBG syndrome; Short stature-facial and skeletal anomalies-intellectual disability-macrodontia syndrome (ORPHA:2332)
Gene: ANKRD11
Phenotype: Dysphagia (HP:0002015)
Associated disease: Del(16)(q24.3); 16q24.3 microdeletion syndrome; Monosomy 16q24.3 (ORPHA:261250)
Gene: ANKRD11
Phenotype: Frontal bossing (HP:0002007)
Associated disease: Del(16)(q24.3); 16q24.3 microdeletion syndrome; Monosomy 16q24.3 (ORPHA:261250)
Gene: ANKRD11
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: Del(16)(q24.3); 16q24.3 microdeletion syndrome; Monosomy 16q24.3 (ORPHA:261250)
Gene: ANKRD11
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ANKRD11
Phenotype: Ulnar deviation of the 2nd finger (HP:0009464)
Associated disease: KBG SYNDROME (OMIM:148050)
Gene: ANKRD11
Phenotype: Radial deviation of finger (HP:0009466)
Associated disease: KBG SYNDROME (OMIM:148050)
Gene: ANKRD11
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANKRD11
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Del(16)(q24.3); 16q24.3 microdeletion syndrome; Monosomy 16q24.3 (ORPHA:261250)
Gene: ANKRD11
Phenotype: Proximal placement of thumb (HP:0009623)
Associated disease: Del(16)(q24.3); 16q24.3 microdeletion syndrome; Monosomy 16q24.3 (ORPHA:261250)
Gene: ANKRD11
Phenotype: Low posterior hairline (HP:0002162)
Associated disease: KBG SYNDROME (OMIM:148050)
Gene: ANKRD11
Phenotype: Abnormal skeletal morphology (HP:0011842)
Associated disease: ANKRD11-related disorder; KBG syndrome; Short stature-facial and skeletal anomalies-intellectual disability-macrodontia syndrome (ORPHA:2332)
Gene: ANKRD11
Phenotype: Abnormal hair pattern (HP:0010720)
Associated disease: ANKRD11-related disorder; KBG syndrome; Short stature-facial and skeletal anomalies-intellectual disability-macrodontia syndrome (ORPHA:2332)
Gene: ANKRD11
Phenotype: Abnormal hair pattern (HP:0010720)
Associated disease: Del(16)(q24.3); 16q24.3 microdeletion syndrome; Monosomy 16q24.3 (ORPHA:261250)
Gene: ANKRD11
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: KBG SYNDROME (OMIM:148050)
Gene: ANKRD11
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: ANKRD11-related disorder; KBG syndrome; Short stature-facial and skeletal anomalies-intellectual disability-macrodontia syndrome (ORPHA:2332)
Gene: ANKRD11
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Del(16)(q24.3); 16q24.3 microdeletion syndrome; Monosomy 16q24.3 (ORPHA:261250)
Gene: ANKRD11
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANKRD11
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: Del(16)(q24.3); 16q24.3 microdeletion syndrome; Monosomy 16q24.3 (ORPHA:261250)
Gene: ANKRD11
Phenotype: EEG abnormality (HP:0002353)
Associated disease: ANKRD11-related disorder; KBG syndrome; Short stature-facial and skeletal anomalies-intellectual disability-macrodontia syndrome (ORPHA:2332)
Gene: ANKRD11
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ANKRD11
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANKRD11
Phenotype: Bilateral conductive hearing impairment (HP:0008513)
Associated disease: ANKRD11-related disorder; KBG syndrome; Short stature-facial and skeletal anomalies-intellectual disability-macrodontia syndrome (ORPHA:2332)
Gene: ANKRD11
Phenotype: Tented upper lip vermilion (HP:0010804)
Associated disease: KBG SYNDROME (OMIM:148050)
Gene: ANKRD11
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANKRD11
Phenotype: Periventricular heterotopia (HP:0007165)
Associated disease: Del(16)(q24.3); 16q24.3 microdeletion syndrome; Monosomy 16q24.3 (ORPHA:261250)
Gene: ANKRD11
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ANKRD11
Phenotype: Vertebral arch anomaly (HP:0008438)
Associated disease: KBG SYNDROME (OMIM:148050)
Gene: ANKRD11
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ANKRD11
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ANKRD11
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: ANKRD11
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: KBG SYNDROME (OMIM:148050)
Gene: ANKRD11
Phenotype: Increased mean corpuscular volume (HP:0005518)
Associated disease: Del(16)(q24.3); 16q24.3 microdeletion syndrome; Monosomy 16q24.3 (ORPHA:261250)
Gene: ANKRD11
Phenotype: Short palm (HP:0004279)
Associated disease: KBG SYNDROME (OMIM:148050)
Gene: ANKRD11
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANKRD11
Phenotype: Nystagmus (HP:0000639)
Associated disease: Del(16)(q24.3); 16q24.3 microdeletion syndrome; Monosomy 16q24.3 (ORPHA:261250)
Gene: ANKRD11
Phenotype: Long palpebral fissure (HP:0000637)
Associated disease: ANKRD11-related disorder; KBG syndrome; Short stature-facial and skeletal anomalies-intellectual disability-macrodontia syndrome (ORPHA:2332)
Gene: ANKRD11
Phenotype: Long palpebral fissure (HP:0000637)
Associated disease: KBG SYNDROME (OMIM:148050)
Gene: ANKRD11
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ANKRD11
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ANKRD11
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANKRD11
Phenotype: Optic nerve hypoplasia (HP:0000609)
Associated disease: Del(16)(q24.3); 16q24.3 microdeletion syndrome; Monosomy 16q24.3 (ORPHA:261250)
Gene: ANKRD11
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ANKRD11
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANKRD11
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANKRD11
Phenotype: Oligodontia (HP:0000677)
Associated disease: ANKRD11-related disorder; KBG syndrome; Short stature-facial and skeletal anomalies-intellectual disability-macrodontia syndrome (ORPHA:2332)
Gene: ANKRD11
Phenotype: Oligodontia (HP:0000677)
Associated disease: KBG SYNDROME (OMIM:148050)
Gene: ANKRD11
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ANKRD11
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANKRD11
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANKRD11
Phenotype: Synophrys (HP:0000664)
Associated disease: KBG SYNDROME (OMIM:148050)
Gene: ANKRD11
Phenotype: Synophrys (HP:0000664)
Associated disease: ANKRD11-related disorder; KBG syndrome; Short stature-facial and skeletal anomalies-intellectual disability-macrodontia syndrome (ORPHA:2332)
Gene: ANKRD11
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANKRD11
Phenotype: Short stature (HP:0004322)
Associated disease: ANKRD11-related disorder; KBG syndrome; Short stature-facial and skeletal anomalies-intellectual disability-macrodontia syndrome (ORPHA:2332)
Gene: ANKRD11
Phenotype: Short stature (HP:0004322)
Associated disease: KBG SYNDROME (OMIM:148050)
Gene: ANKRD11
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ANKRD11
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ANKRD11
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANKRD11
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANKRD11
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANKRD11
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANKRD11
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANKRD11
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANKRD11
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: ANKRD11-related disorder; KBG syndrome; Short stature-facial and skeletal anomalies-intellectual disability-macrodontia syndrome (ORPHA:2332)
Gene: ANKRD11
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANKRD11
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: KBG SYNDROME (OMIM:148050)
Gene: ANKRD11
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Del(16)(q24.3); 16q24.3 microdeletion syndrome; Monosomy 16q24.3 (ORPHA:261250)
Gene: ANKRD11
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANKRD11
Phenotype: Autism (HP:0000717)
Associated disease: Del(16)(q24.3); 16q24.3 microdeletion syndrome; Monosomy 16q24.3 (ORPHA:261250)
Gene: ANKRD11
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANKRD11
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANKRD11
Phenotype: Biparietal narrowing (HP:0004422)
Associated disease: Del(16)(q24.3); 16q24.3 microdeletion syndrome; Monosomy 16q24.3 (ORPHA:261250)
Gene: ANKRD11
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANKRD11
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANKRD11
Phenotype: Rib fusion (HP:0000902)
Associated disease: KBG SYNDROME (OMIM:148050)
Gene: ANKRD11
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANKRD11
Phenotype: Preauricular pit (HP:0004467)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: ANKRD11
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ANKRD11
Phenotype: Persistent open anterior fontanelle (HP:0004474)
Associated disease: ANKRD11-related disorder; KBG syndrome; Short stature-facial and skeletal anomalies-intellectual disability-macrodontia syndrome (ORPHA:2332)
Gene: ANKRD11
Phenotype: Cervical ribs (HP:0000891)
Associated disease: KBG SYNDROME (OMIM:148050)
Gene: ANKRD11
Phenotype: Cervical ribs (HP:0000891)
Associated disease: ANKRD11-related disorder; KBG syndrome; Short stature-facial and skeletal anomalies-intellectual disability-macrodontia syndrome (ORPHA:2332)
Gene: ANKRD11
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ANKRD11
Phenotype: Finger clinodactyly (HP:0040019)
Associated disease: ANKRD11-related disorder; KBG syndrome; Short stature-facial and skeletal anomalies-intellectual disability-macrodontia syndrome (ORPHA:2332)
Gene: ANKRD11
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANKRD11
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ANKRD11
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: KBG SYNDROME (OMIM:148050)
Gene: ANKRD11
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: ANKRD11-related disorder; KBG syndrome; Short stature-facial and skeletal anomalies-intellectual disability-macrodontia syndrome (ORPHA:2332)
Gene: ANKRD11
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANKRD11
Phenotype: Congenital malformation of the left heart (HP:0045017)
Associated disease: ANKRD11-related disorder; KBG syndrome; Short stature-facial and skeletal anomalies-intellectual disability-macrodontia syndrome (ORPHA:2332)
Gene: ANKRD11
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANKRD11
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANKRD11
Phenotype: Low anterior hairline (HP:0000294)
Associated disease: KBG SYNDROME (OMIM:148050)
Gene: ANKRD11
Phenotype: Long face (HP:0000276)
Associated disease: Del(16)(q24.3); 16q24.3 microdeletion syndrome; Monosomy 16q24.3 (ORPHA:261250)
Gene: ANKRD11
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANKRD11
Phenotype: Kyphosis (HP:0002808)
Associated disease: Del(16)(q24.3); 16q24.3 microdeletion syndrome; Monosomy 16q24.3 (ORPHA:261250)
Gene: ANKRD11
Phenotype: Macrodontia (HP:0001572)
Associated disease: KBG SYNDROME (OMIM:148050)
Gene: ANKRD11
Phenotype: Macrodontia (HP:0001572)
Associated disease: ANKRD11-related disorder; KBG syndrome; Short stature-facial and skeletal anomalies-intellectual disability-macrodontia syndrome (ORPHA:2332)
Gene: ANKRD11
Phenotype: Widely-spaced maxillary central incisors (HP:0001566)
Associated disease: KBG SYNDROME (OMIM:148050)
Gene: ANKRD11
Phenotype: Widely-spaced maxillary central incisors (HP:0001566)
Associated disease: ANKRD11-related disorder; KBG syndrome; Short stature-facial and skeletal anomalies-intellectual disability-macrodontia syndrome (ORPHA:2332)
Gene: ANKRD11
Phenotype: Microcephaly (HP:0000252)
Associated disease: ANKRD11-related disorder; KBG syndrome; Short stature-facial and skeletal anomalies-intellectual disability-macrodontia syndrome (ORPHA:2332)
Gene: ANKRD11
Phenotype: Microcephaly (HP:0000252)
Associated disease: KBG SYNDROME (OMIM:148050)
Gene: ANKRD11
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANKRD11
Phenotype: Brachycephaly (HP:0000248)
Associated disease: KBG SYNDROME (OMIM:148050)
Gene: ANKRD11
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: ANKRD11-related disorder; KBG syndrome; Short stature-facial and skeletal anomalies-intellectual disability-macrodontia syndrome (ORPHA:2332)
Gene: ANKRD11
Phenotype: High palate (HP:0000218)
Associated disease: Del(16)(q24.3); 16q24.3 microdeletion syndrome; Monosomy 16q24.3 (ORPHA:261250)
Gene: ANKRD11
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ANKRD11
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ANKRD11
Phenotype: Colpocephaly (HP:0030048)
Associated disease: Del(16)(q24.3); 16q24.3 microdeletion syndrome; Monosomy 16q24.3 (ORPHA:261250)
Gene: ANKRD11
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANKRD11
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ANKRD11
Phenotype: Preauricular skin tag (HP:0000384)
Associated disease: Del(16)(q24.3); 16q24.3 microdeletion syndrome; Monosomy 16q24.3 (ORPHA:261250)
Gene: ANKRD11
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANKRD11
Phenotype: Chronic otitis media (HP:0000389)
Associated disease: Del(16)(q24.3); 16q24.3 microdeletion syndrome; Monosomy 16q24.3 (ORPHA:261250)
Gene: ANKRD11
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANKRD11
Phenotype: Vertebral fusion (HP:0002948)
Associated disease: ANKRD11-related disorder; KBG syndrome; Short stature-facial and skeletal anomalies-intellectual disability-macrodontia syndrome (ORPHA:2332)
Gene: ANKRD11
Phenotype: Vertebral fusion (HP:0002948)
Associated disease: KBG SYNDROME (OMIM:148050)
Gene: ANKRD11
Phenotype: Thoracic kyphosis (HP:0002942)
Associated disease: ANKRD11-related disorder; KBG syndrome; Short stature-facial and skeletal anomalies-intellectual disability-macrodontia syndrome (ORPHA:2332)
Gene: ANKRD11
Phenotype: Thoracic kyphosis (HP:0002942)
Associated disease: KBG SYNDROME (OMIM:148050)
Gene: ANKRD11
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Del(16)(q24.3); 16q24.3 microdeletion syndrome; Monosomy 16q24.3 (ORPHA:261250)
Gene: ANKRD11
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ANKRD11
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: KBG SYNDROME (OMIM:148050)
Gene: ANKRD11
Phenotype: Long philtrum (HP:0000343)
Associated disease: Del(16)(q24.3); 16q24.3 microdeletion syndrome; Monosomy 16q24.3 (ORPHA:261250)
Gene: ANKRD11
Phenotype: Long philtrum (HP:0000343)
Associated disease: KBG SYNDROME (OMIM:148050)
Gene: ANKRD11
Phenotype: Long philtrum (HP:0000343)
Associated disease: ANKRD11-related disorder; KBG syndrome; Short stature-facial and skeletal anomalies-intellectual disability-macrodontia syndrome (ORPHA:2332)
Gene: ANKRD11
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANKRD11
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ANKRD11
Phenotype: Broad forehead (HP:0000337)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: ANKRD11
Phenotype: High forehead (HP:0000348)
Associated disease: Del(16)(q24.3); 16q24.3 microdeletion syndrome; Monosomy 16q24.3 (ORPHA:261250)
Gene: ANKRD11
Phenotype: Micrognathia (HP:0000347)
Associated disease: Del(16)(q24.3); 16q24.3 microdeletion syndrome; Monosomy 16q24.3 (ORPHA:261250)
Gene: ANKRD11
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: Del(16)(q24.3); 16q24.3 microdeletion syndrome; Monosomy 16q24.3 (ORPHA:261250)
Gene: ANKRD11
Phenotype: Hypertelorism (HP:0000316)
Associated disease: KBG SYNDROME (OMIM:148050)
Gene: ANKRD11
Phenotype: Hypertelorism (HP:0000316)
Associated disease: ANKRD11-related disorder; KBG syndrome; Short stature-facial and skeletal anomalies-intellectual disability-macrodontia syndrome (ORPHA:2332)
Gene: ANKRD11
Phenotype: Round face (HP:0000311)
Associated disease: ANKRD11-related disorder; KBG syndrome; Short stature-facial and skeletal anomalies-intellectual disability-macrodontia syndrome (ORPHA:2332)
Gene: ANKRD11
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANKRD11
Phenotype: Round face (HP:0000311)
Associated disease: KBG SYNDROME (OMIM:148050)
Gene: ANKRD11
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: Del(16)(q24.3); 16q24.3 microdeletion syndrome; Monosomy 16q24.3 (ORPHA:261250)
Gene: ANKRD11
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease: Del(16)(q24.3); 16q24.3 microdeletion syndrome; Monosomy 16q24.3 (ORPHA:261250)
Gene: ANKRD11
Phenotype: Triangular face (HP:0000325)
Associated disease: KBG SYNDROME (OMIM:148050)
Gene: ANKRD11
Phenotype: Triangular face (HP:0000325)
Associated disease: ANKRD11-related disorder; KBG syndrome; Short stature-facial and skeletal anomalies-intellectual disability-macrodontia syndrome (ORPHA:2332)
Gene: ANKRD11
Phenotype: Triangular face (HP:0000325)
Associated disease: Del(16)(q24.3); 16q24.3 microdeletion syndrome; Monosomy 16q24.3 (ORPHA:261250)
Gene: ANKRD11
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: Del(16)(q24.3); 16q24.3 microdeletion syndrome; Monosomy 16q24.3 (ORPHA:261250)
Gene: ANKRD11
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANKRD11
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: ANKRD11
Phenotype: Pointed chin (HP:0000307)
Associated disease: Del(16)(q24.3); 16q24.3 microdeletion syndrome; Monosomy 16q24.3 (ORPHA:261250)
Gene: ANKRD11
Phenotype: Pointed chin (HP:0000307)
Associated disease: KBG SYNDROME (OMIM:148050)
Gene: ANKRD11
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ANKRD11
Phenotype: Macrotia (HP:0000400)
Associated disease: KBG SYNDROME (OMIM:148050)
Gene: ANKRD11
Phenotype: Macrotia (HP:0000400)
Associated disease: ANKRD11-related disorder; KBG syndrome; Short stature-facial and skeletal anomalies-intellectual disability-macrodontia syndrome (ORPHA:2332)
Gene: ANKRD11
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANKRD11
Phenotype: Astigmatism (HP:0000483)
Associated disease: Del(16)(q24.3); 16q24.3 microdeletion syndrome; Monosomy 16q24.3 (ORPHA:261250)
Gene: ANKRD11
Phenotype: Strabismus (HP:0000486)
Associated disease: ANKRD11-related disorder; KBG syndrome; Short stature-facial and skeletal anomalies-intellectual disability-macrodontia syndrome (ORPHA:2332)
Gene: ANKRD11
Phenotype: Strabismus (HP:0000486)
Associated disease: Del(16)(q24.3); 16q24.3 microdeletion syndrome; Monosomy 16q24.3 (ORPHA:261250)
Gene: ANKRD11
Phenotype: Thick vermilion border (HP:0012471)
Associated disease: Del(16)(q24.3); 16q24.3 microdeletion syndrome; Monosomy 16q24.3 (ORPHA:261250)
Gene: ANKRD11
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: KBG SYNDROME (OMIM:148050)
Gene: ANKRD11
Phenotype: Anteverted nares (HP:0000463)
Associated disease: Del(16)(q24.3); 16q24.3 microdeletion syndrome; Monosomy 16q24.3 (ORPHA:261250)
Gene: ANKRD11
Phenotype: Anteverted nares (HP:0000463)
Associated disease: KBG SYNDROME (OMIM:148050)
Gene: ANKRD11
Phenotype: Anteverted nares (HP:0000463)
Associated disease: ANKRD11-related disorder; KBG syndrome; Short stature-facial and skeletal anomalies-intellectual disability-macrodontia syndrome (ORPHA:2332)
Gene: ANKRD11
Phenotype: Short neck (HP:0000470)
Associated disease: KBG SYNDROME (OMIM:148050)