TaoMedAI/RareMedData huggingface dataset:
Gene: DMXL2
Phenotype: Absent thumbnail (HP:0012554)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: SATB2
Phenotype: Abnormality of the hand (HP:0001155)
Associated disease: SATB2-associated syndrome due to a point mutation; SATB2-associated syndrome due to a pathogenic variant (ORPHA:576283)
Gene: SATB2
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: Del(2)(q32q33); 2q32q33 microdeletion syndrome; Monosomy 2q32; Del(2)(q32); Monosomy 2q32q33 (ORPHA:251019)
Gene: SATB2
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: GLASS SYNDROME (OMIM:612313)
Gene: SATB2
Phenotype: Poor speech (HP:0002465)
Associated disease: SATB2-associated syndrome due to a point mutation; SATB2-associated syndrome due to a pathogenic variant (ORPHA:576283)
Gene: SATB2
Phenotype: Frequent temper tantrums (HP:0025161)
Associated disease: GLASS SYNDROME (OMIM:612313)
Gene: SATB2
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: SATB2-associated syndrome due to a point mutation; SATB2-associated syndrome due to a pathogenic variant (ORPHA:576283)
Gene: SATB2
Phenotype: Intellectual disability, severe (HP:0010864)
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: Intellectual disability, severe (HP:0010864)
Associated disease: Del(2)(q32q33); 2q32q33 microdeletion syndrome; Monosomy 2q32; Del(2)(q32); Monosomy 2q32q33 (ORPHA:251019)
Gene: SATB2
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SATB2
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SATB2
Phenotype: Hypertonia (HP:0001276)
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: Seizure (HP:0001250)
Associated disease: SATB2-associated syndrome due to a point mutation; SATB2-associated syndrome due to a pathogenic variant (ORPHA:576283)
Gene: SATB2
Phenotype: Seizure (HP:0001250)
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: Seizure (HP:0001250)
Associated disease: GLASS SYNDROME (OMIM:612313)
Gene: SATB2
Phenotype: Hypotonia (HP:0001252)
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: Hypotonia (HP:0001252)
Associated disease: Del(2)(q32q33); 2q32q33 microdeletion syndrome; Monosomy 2q32; Del(2)(q32); Monosomy 2q32q33 (ORPHA:251019)
Gene: SATB2
Phenotype: Hypotonia (HP:0001252)
Associated disease: GLASS SYNDROME (OMIM:612313)
Gene: SATB2
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SATB2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: SATB2-associated syndrome due to a point mutation; SATB2-associated syndrome due to a pathogenic variant (ORPHA:576283)
Gene: SATB2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: GLASS SYNDROME (OMIM:612313)
Gene: SATB2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SATB2
Phenotype: Polyphagia (HP:0002591)
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: Global developmental delay (HP:0001263)
Associated disease: SATB2-associated syndrome due to a point mutation; SATB2-associated syndrome due to a pathogenic variant (ORPHA:576283)
Gene: SATB2
Phenotype: Global developmental delay (HP:0001263)
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: Global developmental delay (HP:0001263)
Associated disease: Del(2)(q32q33); 2q32q33 microdeletion syndrome; Monosomy 2q32; Del(2)(q32); Monosomy 2q32q33 (ORPHA:251019)
Gene: SATB2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: GLASS SYNDROME (OMIM:612313)
Gene: SATB2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SATB2
Phenotype: Slender finger (HP:0001238)
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 globe location (HP:0100886)
Associated disease: SATB2-associated syndrome due to a point mutation; SATB2-associated syndrome due to a pathogenic variant (ORPHA:576283)
Gene: SATB2
Phenotype: Decreased testicular size (HP:0008734)
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: Decreased testicular size (HP:0008734)
Associated disease: Del(2)(q32q33); 2q32q33 microdeletion syndrome; Monosomy 2q32; Del(2)(q32); Monosomy 2q32q33 (ORPHA:251019)
Gene: SATB2
Phenotype: Brain imaging abnormality (HP:0410263)
Associated disease: SATB2-associated syndrome due to a point mutation; SATB2-associated syndrome due to a pathogenic variant (ORPHA:576283)
Gene: SATB2
Phenotype: Incomprehensible speech (HP:0002546)
Associated disease: Del(2)(q32q33); 2q32q33 microdeletion syndrome; Monosomy 2q32; Del(2)(q32); Monosomy 2q32q33 (ORPHA:251019)
Gene: SATB2
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SATB2
Phenotype: Abnormal cerebral white matter morphology (HP:0002500)
Associated disease: SATB2-associated syndrome due to a point mutation; SATB2-associated syndrome due to a pathogenic variant (ORPHA:576283)
Gene: SATB2
Phenotype: Micropenis (HP:0000054)
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: Joint hypermobility (HP:0001382)
Associated disease: SATB2-associated syndrome due to a point mutation; SATB2-associated syndrome due to a pathogenic variant (ORPHA:576283)
Gene: SATB2
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Del(2)(q32q33); 2q32q33 microdeletion syndrome; Monosomy 2q32; Del(2)(q32); Monosomy 2q32q33 (ORPHA:251019)
Gene: SATB2
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SATB2
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: GLASS SYNDROME (OMIM:612313)
Gene: SATB2
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SATB2
Phenotype: Cryptorchidism (HP:0000028)
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: Postnatal growth retardation (HP:0008897)
Associated disease: SATB2-associated syndrome due to a point mutation; SATB2-associated syndrome due to a pathogenic variant (ORPHA:576283)
Gene: SATB2
Phenotype: Postnatal growth retardation (HP:0008897)
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: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SATB2
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: SATB2-associated syndrome due to a point mutation; SATB2-associated syndrome due to a pathogenic variant (ORPHA:576283)
Gene: SATB2
Phenotype: Feeding difficulties in infancy (HP:0008872)
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: Increased susceptibility to fractures (HP:0002659)
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: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SATB2
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SATB2
Phenotype: Absent speech (HP:0001344)
Associated disease: SATB2-associated syndrome due to a point mutation; SATB2-associated syndrome due to a pathogenic variant (ORPHA:576283)
Gene: SATB2
Phenotype: Absent speech (HP:0001344)
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: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SATB2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SATB2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SATB2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: GLASS SYNDROME (OMIM:612313)
Gene: SATB2
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SATB2
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SATB2
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SATB2
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SATB2
Phenotype: Celiac disease (HP:0002608)
Associated disease: SATB2-associated syndrome due to a point mutation; SATB2-associated syndrome due to a pathogenic variant (ORPHA:576283)
Gene: SATB2
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SATB2
Phenotype: Bifid uvula (HP:0000193)
Associated disease: SATB2-associated syndrome due to a point mutation; SATB2-associated syndrome due to a pathogenic variant (ORPHA:576283)
Gene: SATB2
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: SATB2-associated syndrome due to a point mutation; SATB2-associated syndrome due to a pathogenic variant (ORPHA:576283)
Gene: SATB2
Phenotype: Abnormality of the dentition (HP:0000164)
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 mouth (HP:0000160)
Associated disease: GLASS SYNDROME (OMIM:612313)
Gene: SATB2
Phenotype: Narrow mouth (HP:0000160)
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 mouth (HP:0000160)
Associated disease: Del(2)(q32q33); 2q32q33 microdeletion syndrome; Monosomy 2q32; Del(2)(q32); Monosomy 2q32q33 (ORPHA:251019)
Gene: SATB2
Phenotype: Cleft palate (HP:0000175)
Associated disease: SATB2-associated syndrome due to a point mutation; SATB2-associated syndrome due to a pathogenic variant (ORPHA:576283)
Gene: SATB2
Phenotype: Cleft palate (HP:0000175)
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: Cleft palate (HP:0000175)
Associated disease: Del(2)(q32q33); 2q32q33 microdeletion syndrome; Monosomy 2q32; Del(2)(q32); Monosomy 2q32q33 (ORPHA:251019)
Gene: SATB2
Phenotype: Cleft palate (HP:0000175)
Associated disease: GLASS SYNDROME (OMIM:612313)
Gene: SATB2
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SATB2
Phenotype: Agenesis of permanent teeth (HP:0006349)
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: Floppy infant (HP:0008947)
Associated disease: SATB2-associated syndrome due to a point mutation; SATB2-associated syndrome due to a pathogenic variant (ORPHA:576283)
Gene: SATB2
Phenotype: Generalized joint hypermobility (HP:0002761)
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: Gastroesophageal reflux (HP:0002020)
Associated disease: SATB2-associated syndrome due to a point mutation; SATB2-associated syndrome due to a pathogenic variant (ORPHA:576283)
Gene: SATB2
Phenotype: Poor suck (HP:0002033)
Associated disease: GLASS SYNDROME (OMIM:612313)
Gene: SATB2
Phenotype: Dysphagia (HP:0002015)
Associated disease: SATB2-associated syndrome due to a point mutation; SATB2-associated syndrome due to a pathogenic variant (ORPHA:576283)
Gene: SATB2
Phenotype: Morphological central nervous system abnormality (HP:0002011)
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: Frontal bossing (HP:0002007)
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: Frontal bossing (HP:0002007)
Associated disease: GLASS SYNDROME (OMIM:612313)
Gene: SATB2
Phenotype: Midface retrusion (HP:0011800)
Associated disease: GLASS SYNDROME (OMIM:612313)
Gene: SATB2
Phenotype: Lower limb asymmetry (HP:0100559)
Associated disease: SATB2-associated syndrome due to a point mutation; SATB2-associated syndrome due to a pathogenic variant (ORPHA:576283)
Gene: SATB2
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: GLASS SYNDROME (OMIM:612313)
Gene: SATB2
Phenotype: Lower limb spasticity (HP:0002061)
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: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SATB2
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SATB2
Phenotype: Broad-based gait (HP:0002136)
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-based gait (HP:0002136)
Associated disease: GLASS SYNDROME (OMIM:612313)
Gene: SATB2
Phenotype: Apnea (HP:0002104)
Associated disease: GLASS SYNDROME (OMIM:612313)
Gene: SATB2
Phenotype: Nail dysplasia (HP:0002164)
Associated disease: GLASS SYNDROME (OMIM:612313)
Gene: SATB2
Phenotype: Infantile onset (HP:0003593)
Associated disease: GLASS SYNDROME (OMIM:612313)
Gene: SATB2
Phenotype: Congenital onset (HP:0003577)
Associated disease: GLASS SYNDROME (OMIM:612313)
Gene: SATB2
Phenotype: Fine hair (HP:0002213)
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: Fine hair (HP:0002213)
Associated disease: Del(2)(q32q33); 2q32q33 microdeletion syndrome; Monosomy 2q32; Del(2)(q32); Monosomy 2q32q33 (ORPHA:251019)
Gene: SATB2
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: SATB2-associated syndrome due to a point mutation; SATB2-associated syndrome due to a pathogenic variant (ORPHA:576283)
Gene: SATB2
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: Del(2)(q32q33); 2q32q33 microdeletion syndrome; Monosomy 2q32; Del(2)(q32); Monosomy 2q32q33 (ORPHA:251019)
Gene: SATB2
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Del(2)(q32q33); 2q32q33 microdeletion syndrome; Monosomy 2q32; Del(2)(q32); Monosomy 2q32q33 (ORPHA:251019)
Gene: SATB2
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SATB2
Phenotype: Esodeviation (HP:0020045)
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: Sleep abnormality (HP:0002360)
Associated disease: GLASS SYNDROME (OMIM:612313)
Gene: SATB2
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: SATB2-associated syndrome due to a point mutation; SATB2-associated syndrome due to a pathogenic variant (ORPHA:576283)
Gene: SATB2
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: Del(2)(q32q33); 2q32q33 microdeletion syndrome; Monosomy 2q32; Del(2)(q32); Monosomy 2q32q33 (ORPHA:251019)
Gene: SATB2
Phenotype: Febrile seizure (within the age range of 3 months to 6 years) (HP:0002373)
Associated disease: GLASS SYNDROME (OMIM:612313)
Gene: SATB2
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: SATB2-associated syndrome due to a point mutation; SATB2-associated syndrome due to a pathogenic variant (ORPHA:576283)
Gene: SATB2
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SATB2
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SATB2
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SATB2
Phenotype: Small hand (HP:0200055)
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: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SATB2
Phenotype: Drooling (HP:0002307)
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: Drooling (HP:0002307)
Associated disease: SATB2-associated syndrome due to a point mutation; SATB2-associated syndrome due to a pathogenic variant (ORPHA:576283)
Gene: SATB2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SATB2
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SATB2
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: SATB2-associated syndrome due to a point mutation; SATB2-associated syndrome due to a pathogenic variant (ORPHA:576283)
Gene: SATB2
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
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: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: Del(2)(q32q33); 2q32q33 microdeletion syndrome; Monosomy 2q32; Del(2)(q32); Monosomy 2q32q33 (ORPHA:251019)
Gene: SATB2
Phenotype: Broad hallux phalanx (HP:0010059)
Associated disease: Del(2)(q32q33); 2q32q33 microdeletion syndrome; Monosomy 2q32; Del(2)(q32); Monosomy 2q32q33 (ORPHA:251019)
Gene: SATB2
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SATB2
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SATB2
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SATB2
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SATB2
Phenotype: Dacryocystitis (HP:0000620)
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: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SATB2
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SATB2
Phenotype: Broad hallux (HP:0010055)
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: Conical tooth (HP:0000698)
Associated disease: GLASS SYNDROME (OMIM:612313)
Gene: SATB2
Phenotype: Severe global developmental delay (HP:0011344)
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 upper lip vermillion (HP:0011339)
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: Dental crowding (HP:0000678)
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: Dental crowding (HP:0000678)
Associated disease: Del(2)(q32q33); 2q32q33 microdeletion syndrome; Monosomy 2q32; Del(2)(q32); Monosomy 2q32q33 (ORPHA:251019)
Gene: SATB2
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SATB2
Phenotype: Dental crowding (HP:0000678)
Associated disease: GLASS SYNDROME (OMIM:612313)
Gene: SATB2
Phenotype: Oligodontia (HP:0000677)
Associated disease: Del(2)(q32q33); 2q32q33 microdeletion syndrome; Monosomy 2q32; Del(2)(q32); Monosomy 2q32q33 (ORPHA:251019)
Gene: SATB2
Phenotype: Oligodontia (HP:0000677)
Associated disease: GLASS SYNDROME (OMIM:612313)
Gene: SATB2
Phenotype: Microdontia (HP:0000691)
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: Dental malocclusion (HP:0000689)
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: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SATB2
Phenotype: Broad thumb (HP:0011304)
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 thumb (HP:0011304)
Associated disease: Del(2)(q32q33); 2q32q33 microdeletion syndrome; Monosomy 2q32; Del(2)(q32); Monosomy 2q32q33 (ORPHA:251019)
Gene: SATB2
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SATB2
Phenotype: Broad thumb (HP:0011304)
Associated disease: SATB2-associated syndrome due to a point mutation; SATB2-associated syndrome due to a pathogenic variant (ORPHA:576283)
Gene: SATB2
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SATB2
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: SATB2-associated syndrome due to a point mutation; SATB2-associated syndrome due to a pathogenic variant (ORPHA:576283)
Gene: SATB2
Phenotype: Abnormal facial shape (HP:0001999)
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: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SATB2
Phenotype: Short stature (HP:0004322)
Associated disease: Del(2)(q32q33); 2q32q33 microdeletion syndrome; Monosomy 2q32; Del(2)(q32); Monosomy 2q32q33 (ORPHA:251019)
Gene: SATB2
Phenotype: Short stature (HP:0004322)
Associated disease: GLASS SYNDROME (OMIM:612313)