TaoMedAI/RareMedData huggingface dataset:
Gene: SATB2
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SATB2
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SATB2
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SATB2
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SATB2
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SATB2
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SATB2
Phenotype: Hyperactivity (HP:0000752)
Associated disease: GLASS SYNDROME (OMIM:612313)
Gene: SATB2
Phenotype: Conspicuously happy disposition (HP:0100024)
Associated disease: Del(2)(q32q33); 2q32q33 microdeletion syndrome; Monosomy 2q32; Del(2)(q32); Monosomy 2q32q33 (ORPHA:251019)
Gene: SATB2
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SATB2
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SATB2
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SATB2
Phenotype: Anxiety (HP:0000739)
Associated disease: Del(2)(q32q33); 2q32q33 microdeletion syndrome; Monosomy 2q32; Del(2)(q32); Monosomy 2q32q33 (ORPHA:251019)
Gene: SATB2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: GLASS SYNDROME (OMIM:612313)
Gene: SATB2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Del(2)(q32q33); 2q32q33 microdeletion syndrome; Monosomy 2q32; Del(2)(q32); Monosomy 2q32q33 (ORPHA:251019)
Gene: SATB2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SATB2
Phenotype: Self-mutilation (HP:0000742)
Associated disease: Monosomy 2q33.1; SATB2-associated syndrome due to a chromosomal rearrangement; Del(2)(q33.1); 2q33.1 microdeletion syndrome (ORPHA:251028)
Gene: SATB2
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: GLASS SYNDROME (OMIM:612313)
Gene: SATB2
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: Monosomy 2q33.1; SATB2-associated syndrome due to a chromosomal rearrangement; Del(2)(q33.1); 2q33.1 microdeletion syndrome (ORPHA:251028)
Gene: SATB2
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: Del(2)(q32q33); 2q32q33 microdeletion syndrome; Monosomy 2q32; Del(2)(q32); Monosomy 2q32q33 (ORPHA:251019)
Gene: SATB2
Phenotype: Autism (HP:0000717)
Associated disease: Del(2)(q32q33); 2q32q33 microdeletion syndrome; Monosomy 2q32; Del(2)(q32); Monosomy 2q32q33 (ORPHA:251019)
Gene: SATB2
Phenotype: Emotional lability (HP:0000712)
Associated disease: Monosomy 2q33.1; SATB2-associated syndrome due to a chromosomal rearrangement; Del(2)(q33.1); 2q33.1 microdeletion syndrome (ORPHA:251028)
Gene: SATB2
Phenotype: Restlessness (HP:0000711)
Associated disease: Monosomy 2q33.1; SATB2-associated syndrome due to a chromosomal rearrangement; Del(2)(q33.1); 2q33.1 microdeletion syndrome (ORPHA:251028)
Gene: SATB2
Phenotype: Restlessness (HP:0000711)
Associated disease: GLASS SYNDROME (OMIM:612313)
Gene: SATB2
Phenotype: Autistic behavior (HP:0000729)
Associated disease: SATB2-associated syndrome due to a point mutation; SATB2-associated syndrome due to a pathogenic variant (ORPHA:576283)
Gene: SATB2
Phenotype: Atypical behavior (HP:0000708)
Associated disease: SATB2-associated syndrome due to a point mutation; SATB2-associated syndrome due to a pathogenic variant (ORPHA:576283)
Gene: SATB2
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Monosomy 2q33.1; SATB2-associated syndrome due to a chromosomal rearrangement; Del(2)(q33.1); 2q33.1 microdeletion syndrome (ORPHA:251028)
Gene: SATB2
Phenotype: Nasogastric tube feeding in infancy (HP:0011470)
Associated disease: Monosomy 2q33.1; SATB2-associated syndrome due to a chromosomal rearrangement; Del(2)(q33.1); 2q33.1 microdeletion syndrome (ORPHA:251028)
Gene: SATB2
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SATB2
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SATB2
Phenotype: Short nose (HP:0003196)
Associated disease: Monosomy 2q33.1; SATB2-associated syndrome due to a chromosomal rearrangement; Del(2)(q33.1); 2q33.1 microdeletion syndrome (ORPHA:251028)
Gene: SATB2
Phenotype: Abnormality of the skeletal system (HP:0000924)
Associated disease: SATB2-associated syndrome due to a point mutation; SATB2-associated syndrome due to a pathogenic variant (ORPHA:576283)
Gene: SATB2
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SATB2
Phenotype: Long nose (HP:0003189)
Associated disease: GLASS SYNDROME (OMIM:612313)
Gene: SATB2
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SATB2
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: Monosomy 2q33.1; SATB2-associated syndrome due to a chromosomal rearrangement; Del(2)(q33.1); 2q33.1 microdeletion syndrome (ORPHA:251028)
Gene: SATB2
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SATB2
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SATB2
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SATB2
Phenotype: Happy demeanor (HP:0040082)
Associated disease: SATB2-associated syndrome due to a point mutation; SATB2-associated syndrome due to a pathogenic variant (ORPHA:576283)
Gene: SATB2
Phenotype: Happy demeanor (HP:0040082)
Associated disease: GLASS SYNDROME (OMIM:612313)
Gene: SATB2
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SATB2
Phenotype: External genital hypoplasia (HP:0003241)
Associated disease: Monosomy 2q33.1; SATB2-associated syndrome due to a chromosomal rearrangement; Del(2)(q33.1); 2q33.1 microdeletion syndrome (ORPHA:251028)
Gene: SATB2
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SATB2
Phenotype: Abnormal hip bone morphology (HP:0003272)
Associated disease: Monosomy 2q33.1; SATB2-associated syndrome due to a chromosomal rearrangement; Del(2)(q33.1); 2q33.1 microdeletion syndrome (ORPHA:251028)
Gene: SATB2
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SATB2
Phenotype: Abnormality of the skin (HP:0000951)
Associated disease: SATB2-associated syndrome due to a point mutation; SATB2-associated syndrome due to a pathogenic variant (ORPHA:576283)
Gene: SATB2
Phenotype: Thin skin (HP:0000963)
Associated disease: GLASS SYNDROME (OMIM:612313)
Gene: SATB2
Phenotype: Osteopenia (HP:0000938)
Associated disease: SATB2-associated syndrome due to a point mutation; SATB2-associated syndrome due to a pathogenic variant (ORPHA:576283)
Gene: SATB2
Phenotype: Osteopenia (HP:0000938)
Associated disease: Monosomy 2q33.1; SATB2-associated syndrome due to a chromosomal rearrangement; Del(2)(q33.1); 2q33.1 microdeletion syndrome (ORPHA:251028)
Gene: SATB2
Phenotype: Generalized osteoporosis (HP:0040160)
Associated disease: GLASS SYNDROME (OMIM:612313)
Gene: SATB2
Phenotype: Sparse hair (HP:0008070)
Associated disease: GLASS SYNDROME (OMIM:612313)
Gene: SATB2
Phenotype: Sparse hair (HP:0008070)
Associated disease: Monosomy 2q33.1; SATB2-associated syndrome due to a chromosomal rearrangement; Del(2)(q33.1); 2q33.1 microdeletion syndrome (ORPHA:251028)
Gene: SATB2
Phenotype: Sparse hair (HP:0008070)
Associated disease: Del(2)(q32q33); 2q32q33 microdeletion syndrome; Monosomy 2q32; Del(2)(q32); Monosomy 2q32q33 (ORPHA:251019)
Gene: SATB2
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SATB2
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SATB2
Phenotype: Facial hypotonia (HP:0000297)
Associated disease: GLASS SYNDROME (OMIM:612313)
Gene: SATB2
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Monosomy 2q33.1; SATB2-associated syndrome due to a chromosomal rearrangement; Del(2)(q33.1); 2q33.1 microdeletion syndrome (ORPHA:251028)
Gene: SATB2
Phenotype: Narrow face (HP:0000275)
Associated disease: Monosomy 2q33.1; SATB2-associated syndrome due to a chromosomal rearrangement; Del(2)(q33.1); 2q33.1 microdeletion syndrome (ORPHA:251028)
Gene: SATB2
Phenotype: Long face (HP:0000276)
Associated disease: GLASS SYNDROME (OMIM:612313)
Gene: SATB2
Phenotype: Long face (HP:0000276)
Associated disease: Monosomy 2q33.1; SATB2-associated syndrome due to a chromosomal rearrangement; Del(2)(q33.1); 2q33.1 microdeletion syndrome (ORPHA:251028)
Gene: SATB2
Phenotype: Long face (HP:0000276)
Associated disease: Del(2)(q32q33); 2q32q33 microdeletion syndrome; Monosomy 2q32; Del(2)(q32); Monosomy 2q32q33 (ORPHA:251019)
Gene: SATB2
Phenotype: Malar flattening (HP:0000272)
Associated disease: GLASS SYNDROME (OMIM:612313)
Gene: SATB2
Phenotype: Abnormality of the knee (HP:0002815)
Associated disease: Monosomy 2q33.1; SATB2-associated syndrome due to a chromosomal rearrangement; Del(2)(q33.1); 2q33.1 microdeletion syndrome (ORPHA:251028)
Gene: SATB2
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SATB2
Phenotype: Anterior tibial bowing (HP:0006390)
Associated disease: GLASS SYNDROME (OMIM:612313)
Gene: SATB2
Phenotype: Microcephaly (HP:0000252)
Associated disease: Monosomy 2q33.1; SATB2-associated syndrome due to a chromosomal rearrangement; Del(2)(q33.1); 2q33.1 microdeletion syndrome (ORPHA:251028)
Gene: SATB2
Phenotype: Microcephaly (HP:0000252)
Associated disease: Del(2)(q32q33); 2q32q33 microdeletion syndrome; Monosomy 2q32; Del(2)(q32); Monosomy 2q32q33 (ORPHA:251019)
Gene: SATB2
Phenotype: Microcephaly (HP:0000252)
Associated disease: GLASS SYNDROME (OMIM:612313)
Gene: SATB2
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SATB2
Phenotype: Brachycephaly (HP:0000248)
Associated disease: Del(2)(q32q33); 2q32q33 microdeletion syndrome; Monosomy 2q32; Del(2)(q32); Monosomy 2q32q33 (ORPHA:251019)
Gene: SATB2
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: SATB2-associated syndrome due to a point mutation; SATB2-associated syndrome due to a pathogenic variant (ORPHA:576283)
Gene: SATB2
Phenotype: High palate (HP:0000218)
Associated disease: GLASS SYNDROME (OMIM:612313)
Gene: SATB2
Phenotype: High palate (HP:0000218)
Associated disease: SATB2-associated syndrome due to a point mutation; SATB2-associated syndrome due to a pathogenic variant (ORPHA:576283)
Gene: SATB2
Phenotype: High palate (HP:0000218)
Associated disease: Monosomy 2q33.1; SATB2-associated syndrome due to a chromosomal rearrangement; Del(2)(q33.1); 2q33.1 microdeletion syndrome (ORPHA:251028)
Gene: SATB2
Phenotype: High palate (HP:0000218)
Associated disease: Del(2)(q32q33); 2q32q33 microdeletion syndrome; Monosomy 2q32; Del(2)(q32); Monosomy 2q32q33 (ORPHA:251019)
Gene: SATB2
Phenotype: Gingival overgrowth (HP:0000212)
Associated disease: GLASS SYNDROME (OMIM:612313)
Gene: SATB2
Phenotype: Thin vermilion border (HP:0000233)
Associated disease: Del(2)(q32q33); 2q32q33 microdeletion syndrome; Monosomy 2q32; Del(2)(q32); Monosomy 2q32q33 (ORPHA:251019)
Gene: SATB2
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SATB2
Phenotype: Obstructive sleep apnea (HP:0002870)
Associated disease: Monosomy 2q33.1; SATB2-associated syndrome due to a chromosomal rearrangement; Del(2)(q33.1); 2q33.1 microdeletion syndrome (ORPHA:251028)
Gene: SATB2
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SATB2
Phenotype: Pierre-Robin sequence (HP:0000201)
Associated disease: Monosomy 2q33.1; SATB2-associated syndrome due to a chromosomal rearrangement; Del(2)(q33.1); 2q33.1 microdeletion syndrome (ORPHA:251028)
Gene: SATB2
Phenotype: Pierre-Robin sequence (HP:0000201)
Associated disease: GLASS SYNDROME (OMIM:612313)
Gene: SATB2
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SATB2
Phenotype: Growth delay (HP:0001510)
Associated disease: SATB2-associated syndrome due to a point mutation; SATB2-associated syndrome due to a pathogenic variant (ORPHA:576283)
Gene: SATB2
Phenotype: Growth delay (HP:0001510)
Associated disease: Del(2)(q32q33); 2q32q33 microdeletion syndrome; Monosomy 2q32; Del(2)(q32); Monosomy 2q32q33 (ORPHA:251019)
Gene: SATB2
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SATB2
Phenotype: Camptodactyly (HP:0012385)
Associated disease: GLASS SYNDROME (OMIM:612313)
Gene: SATB2
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SATB2
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: Monosomy 2q33.1; SATB2-associated syndrome due to a chromosomal rearrangement; Del(2)(q33.1); 2q33.1 microdeletion syndrome (ORPHA:251028)
Gene: SATB2
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SATB2
Phenotype: Laryngomalacia (HP:0001601)
Associated disease: SATB2-associated syndrome due to a point mutation; SATB2-associated syndrome due to a pathogenic variant (ORPHA:576283)
Gene: SATB2
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SATB2
Phenotype: Abnormality of the outer ear (HP:0000356)
Associated disease: Monosomy 2q33.1; SATB2-associated syndrome due to a chromosomal rearrangement; Del(2)(q33.1); 2q33.1 microdeletion syndrome (ORPHA:251028)
Gene: SATB2
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: GLASS SYNDROME (OMIM:612313)
Gene: SATB2
Phenotype: Low-set ears (HP:0000369)
Associated disease: GLASS SYNDROME (OMIM:612313)
Gene: SATB2
Phenotype: Low-set ears (HP:0000369)
Associated disease: Monosomy 2q33.1; SATB2-associated syndrome due to a chromosomal rearrangement; Del(2)(q33.1); 2q33.1 microdeletion syndrome (ORPHA:251028)
Gene: SATB2
Phenotype: Low-set ears (HP:0000369)
Associated disease: Del(2)(q32q33); 2q32q33 microdeletion syndrome; Monosomy 2q32; Del(2)(q32); Monosomy 2q32q33 (ORPHA:251019)
Gene: SATB2
Phenotype: Long philtrum (HP:0000343)
Associated disease: SATB2-associated syndrome due to a point mutation; SATB2-associated syndrome due to a pathogenic variant (ORPHA:576283)
Gene: SATB2
Phenotype: Long philtrum (HP:0000343)
Associated disease: Monosomy 2q33.1; SATB2-associated syndrome due to a chromosomal rearrangement; Del(2)(q33.1); 2q33.1 microdeletion syndrome (ORPHA:251028)
Gene: SATB2
Phenotype: Long philtrum (HP:0000343)
Associated disease: Del(2)(q32q33); 2q32q33 microdeletion syndrome; Monosomy 2q32; Del(2)(q32); Monosomy 2q32q33 (ORPHA:251019)
Gene: SATB2
Phenotype: Long philtrum (HP:0000343)
Associated disease: GLASS SYNDROME (OMIM:612313)
Gene: SATB2
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SATB2
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SATB2
Phenotype: Broad forehead (HP:0000337)
Associated disease: GLASS SYNDROME (OMIM:612313)
Gene: SATB2
Phenotype: High forehead (HP:0000348)
Associated disease: GLASS SYNDROME (OMIM:612313)
Gene: SATB2
Phenotype: High forehead (HP:0000348)
Associated disease: Monosomy 2q33.1; SATB2-associated syndrome due to a chromosomal rearrangement; Del(2)(q33.1); 2q33.1 microdeletion syndrome (ORPHA:251028)
Gene: SATB2
Phenotype: High forehead (HP:0000348)
Associated disease: Del(2)(q32q33); 2q32q33 microdeletion syndrome; Monosomy 2q32; Del(2)(q32); Monosomy 2q32q33 (ORPHA:251019)
Gene: SATB2
Phenotype: Micrognathia (HP:0000347)
Associated disease: GLASS SYNDROME (OMIM:612313)
Gene: SATB2
Phenotype: Micrognathia (HP:0000347)
Associated disease: SATB2-associated syndrome due to a point mutation; SATB2-associated syndrome due to a pathogenic variant (ORPHA:576283)
Gene: SATB2
Phenotype: Micrognathia (HP:0000347)
Associated disease: Monosomy 2q33.1; SATB2-associated syndrome due to a chromosomal rearrangement; Del(2)(q33.1); 2q33.1 microdeletion syndrome (ORPHA:251028)
Gene: SATB2
Phenotype: Micrognathia (HP:0000347)
Associated disease: Del(2)(q32q33); 2q32q33 microdeletion syndrome; Monosomy 2q32; Del(2)(q32); Monosomy 2q32q33 (ORPHA:251019)
Gene: SATB2
Phenotype: Tibial bowing (HP:0002982)
Associated disease: Monosomy 2q33.1; SATB2-associated syndrome due to a chromosomal rearrangement; Del(2)(q33.1); 2q33.1 microdeletion syndrome (ORPHA:251028)
Gene: SATB2
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: GLASS SYNDROME (OMIM:612313)
Gene: SATB2
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: SATB2-associated syndrome due to a point mutation; SATB2-associated syndrome due to a pathogenic variant (ORPHA:576283)
Gene: SATB2
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SATB2
Phenotype: Short philtrum (HP:0000322)
Associated disease: Monosomy 2q33.1; SATB2-associated syndrome due to a chromosomal rearrangement; Del(2)(q33.1); 2q33.1 microdeletion syndrome (ORPHA:251028)
Gene: SATB2
Phenotype: Facial asymmetry (HP:0000324)
Associated disease: SATB2-associated syndrome due to a point mutation; SATB2-associated syndrome due to a pathogenic variant (ORPHA:576283)
Gene: SATB2
Phenotype: Facial asymmetry (HP:0000324)
Associated disease: Monosomy 2q33.1; SATB2-associated syndrome due to a chromosomal rearrangement; Del(2)(q33.1); 2q33.1 microdeletion syndrome (ORPHA:251028)
Gene: SATB2
Phenotype: Facial asymmetry (HP:0000324)
Associated disease: Del(2)(q32q33); 2q32q33 microdeletion syndrome; Monosomy 2q32; Del(2)(q32); Monosomy 2q32q33 (ORPHA:251019)
Gene: SATB2
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: Monosomy 2q33.1; SATB2-associated syndrome due to a chromosomal rearrangement; Del(2)(q33.1); 2q33.1 microdeletion syndrome (ORPHA:251028)
Gene: SATB2
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SATB2
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SATB2
Phenotype: Typical absence seizure (HP:0011147)
Associated disease: SATB2-associated syndrome due to a point mutation; SATB2-associated syndrome due to a pathogenic variant (ORPHA:576283)
Gene: SATB2
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SATB2
Phenotype: Strabismus (HP:0000486)
Associated disease: SATB2-associated syndrome due to a point mutation; SATB2-associated syndrome due to a pathogenic variant (ORPHA:576283)
Gene: SATB2
Phenotype: Strabismus (HP:0000486)
Associated disease: Del(2)(q32q33); 2q32q33 microdeletion syndrome; Monosomy 2q32; Del(2)(q32); Monosomy 2q32q33 (ORPHA:251019)
Gene: SATB2
Phenotype: Abnormality of the eye (HP:0000478)
Associated disease: Monosomy 2q33.1; SATB2-associated syndrome due to a chromosomal rearrangement; Del(2)(q33.1); 2q33.1 microdeletion syndrome (ORPHA:251028)
Gene: SATB2
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Monosomy 2q33.1; SATB2-associated syndrome due to a chromosomal rearrangement; Del(2)(q33.1); 2q33.1 microdeletion syndrome (ORPHA:251028)
Gene: SATB2
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Del(2)(q32q33); 2q32q33 microdeletion syndrome; Monosomy 2q32; Del(2)(q32); Monosomy 2q32q33 (ORPHA:251019)
Gene: SATB2
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: GLASS SYNDROME (OMIM:612313)
Gene: SATB2
Phenotype: Deeply set eye (HP:0000490)
Associated disease: SATB2-associated syndrome due to a point mutation; SATB2-associated syndrome due to a pathogenic variant (ORPHA:576283)
Gene: SATB2
Phenotype: Deeply set eye (HP:0000490)
Associated disease: Monosomy 2q33.1; SATB2-associated syndrome due to a chromosomal rearrangement; Del(2)(q33.1); 2q33.1 microdeletion syndrome (ORPHA:251028)
Gene: SATB2
Phenotype: Anteverted nares (HP:0000463)
Associated disease: Del(2)(q32q33); 2q32q33 microdeletion syndrome; Monosomy 2q32; Del(2)(q32); Monosomy 2q32q33 (ORPHA:251019)
Gene: SATB2
Phenotype: Anteverted nares (HP:0000463)
Associated disease: GLASS SYNDROME (OMIM:612313)
Gene: SATB2
Phenotype: Narrow nose (HP:0000460)
Associated disease: GLASS SYNDROME (OMIM:612313)
Gene: SATB2
Phenotype: Delayed myelination (HP:0012448)
Associated disease: SATB2-associated syndrome due to a point mutation; SATB2-associated syndrome due to a pathogenic variant (ORPHA:576283)
Gene: SATB2
Phenotype: Broad nasal tip (HP:0000455)
Associated disease: GLASS SYNDROME (OMIM:612313)
Gene: SATB2
Phenotype: Short neck (HP:0000470)
Associated disease: Monosomy 2q33.1; SATB2-associated syndrome due to a chromosomal rearrangement; Del(2)(q33.1); 2q33.1 microdeletion syndrome (ORPHA:251028)
Gene: SATB2
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SATB2
Phenotype: Short foot (HP:0001773)
Associated disease: Monosomy 2q33.1; SATB2-associated syndrome due to a chromosomal rearrangement; Del(2)(q33.1); 2q33.1 microdeletion syndrome (ORPHA:251028)
Gene: SATB2
Phenotype: Short foot (HP:0001773)
Associated disease: SATB2-associated syndrome due to a point mutation; SATB2-associated syndrome due to a pathogenic variant (ORPHA:576283)
Gene: SATB2
Phenotype: Prominent calcaneus (HP:0012428)
Associated disease: Monosomy 2q33.1; SATB2-associated syndrome due to a chromosomal rearrangement; Del(2)(q33.1); 2q33.1 microdeletion syndrome (ORPHA:251028)
Gene: SATB2
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SATB2
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SATB2
Phenotype: Convex nasal ridge (HP:0000444)
Associated disease: Monosomy 2q33.1; SATB2-associated syndrome due to a chromosomal rearrangement; Del(2)(q33.1); 2q33.1 microdeletion syndrome (ORPHA:251028)
Gene: SATB2
Phenotype: Convex nasal ridge (HP:0000444)
Associated disease: Del(2)(q32q33); 2q32q33 microdeletion syndrome; Monosomy 2q32; Del(2)(q32); Monosomy 2q32q33 (ORPHA:251019)
Gene: SATB2
Phenotype: Wide nose (HP:0000445)
Associated disease: Monosomy 2q33.1; SATB2-associated syndrome due to a chromosomal rearrangement; Del(2)(q33.1); 2q33.1 microdeletion syndrome (ORPHA:251028)
Gene: SATB2
Phenotype: Bilateral talipes equinovarus (HP:0001776)
Associated disease: Monosomy 2q33.1; SATB2-associated syndrome due to a chromosomal rearrangement; Del(2)(q33.1); 2q33.1 microdeletion syndrome (ORPHA:251028)
Gene: SATB2
Phenotype: Bulbous nose (HP:0000414)
Associated disease: GLASS SYNDROME (OMIM:612313)
Gene: SATB2
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: Monosomy 2q33.1; SATB2-associated syndrome due to a chromosomal rearrangement; Del(2)(q33.1); 2q33.1 microdeletion syndrome (ORPHA:251028)
Gene: SATB2
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: Del(2)(q32q33); 2q32q33 microdeletion syndrome; Monosomy 2q32; Del(2)(q32); Monosomy 2q32q33 (ORPHA:251019)
Gene: SATB2
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: GLASS SYNDROME (OMIM:612313)
Gene: SATB2
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: GLASS SYNDROME (OMIM:612313)
Gene: SATB2
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: Monosomy 2q33.1; SATB2-associated syndrome due to a chromosomal rearrangement; Del(2)(q33.1); 2q33.1 microdeletion syndrome (ORPHA:251028)
Gene: SATB2
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: Del(2)(q32q33); 2q32q33 microdeletion syndrome; Monosomy 2q32; Del(2)(q32); Monosomy 2q32q33 (ORPHA:251019)