TaoMedAI/RareMedData huggingface dataset:
Gene: HNRNPK
Phenotype: Broad nasal tip (HP:0000455)
Associated disease: Del(9)(q21.3); Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion; 9q21.3 microdeletion syndrome (ORPHA:352665)
Gene: HNRNPK
Phenotype: Bifid nasal tip (HP:0000456)
Associated disease: AU-KLINE SYNDROME (OMIM:616580)
Gene: HNRNPK
Phenotype: Thickened nuchal skin fold (HP:0000474)
Associated disease: AU-KLINE SYNDROME (OMIM:616580)
Gene: HNRNPK
Phenotype: Pes planus (HP:0001763)
Associated disease: Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation (ORPHA:453504)
Gene: HNRNPK
Phenotype: Pes planus (HP:0001763)
Associated disease: Del(9)(q21.3); Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion; 9q21.3 microdeletion syndrome (ORPHA:352665)
Gene: HNRNPK
Phenotype: Protruding ear (HP:0000411)
Associated disease: Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation (ORPHA:453504)
Gene: HNRNPK
Phenotype: Protruding ear (HP:0000411)
Associated disease: Del(9)(q21.3); Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion; 9q21.3 microdeletion syndrome (ORPHA:352665)
Gene: HNRNPK
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation (ORPHA:453504)
Gene: HNRNPK
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: Del(9)(q21.3); Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion; 9q21.3 microdeletion syndrome (ORPHA:352665)
Gene: HNRNPK
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation (ORPHA:453504)
Gene: HNRNPK
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: Del(9)(q21.3); Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion; 9q21.3 microdeletion syndrome (ORPHA:352665)
Gene: HNRNPK
Phenotype: Underdeveloped nasal alae (HP:0000430)
Associated disease: Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation (ORPHA:453504)
Gene: HNRNPK
Phenotype: Underdeveloped nasal alae (HP:0000430)
Associated disease: AU-KLINE SYNDROME (OMIM:616580)
Gene: HNRNPK
Phenotype: Underdeveloped nasal alae (HP:0000430)
Associated disease: Del(9)(q21.3); Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion; 9q21.3 microdeletion syndrome (ORPHA:352665)
Gene: HNRNPK
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: AU-KLINE SYNDROME (OMIM:616580)
Gene: HNRNPK
Phenotype: Prominent metopic ridge (HP:0005487)
Associated disease: Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation (ORPHA:453504)
Gene: HNRNPK
Phenotype: Prominent metopic ridge (HP:0005487)
Associated disease: AU-KLINE SYNDROME (OMIM:616580)
Gene: HNRNPK
Phenotype: Prominent metopic ridge (HP:0005487)
Associated disease: Del(9)(q21.3); Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion; 9q21.3 microdeletion syndrome (ORPHA:352665)
Gene: HNRNPK
Phenotype: Overlapping toe (HP:0001845)
Associated disease: AU-KLINE SYNDROME (OMIM:616580)
Gene: HNRNPK
Phenotype: Ptosis (HP:0000508)
Associated disease: AU-KLINE SYNDROME (OMIM:616580)
Gene: HNRNPK
Phenotype: Ptosis (HP:0000508)
Associated disease: Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation (ORPHA:453504)
Gene: HNRNPK
Phenotype: Ptosis (HP:0000508)
Associated disease: Del(9)(q21.3); Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion; 9q21.3 microdeletion syndrome (ORPHA:352665)
Gene: HNRNPK
Phenotype: Abnormal optic nerve morphology (HP:0000587)
Associated disease: Del(9)(q21.3); Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion; 9q21.3 microdeletion syndrome (ORPHA:352665)
Gene: HNRNPK
Phenotype: Abnormal optic nerve morphology (HP:0000587)
Associated disease: Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation (ORPHA:453504)
Gene: HNRNPK
Phenotype: Shallow orbits (HP:0000586)
Associated disease: AU-KLINE SYNDROME (OMIM:616580)
Gene: HNRNPK
Phenotype: Shallow orbits (HP:0000586)
Associated disease: Del(9)(q21.3); Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion; 9q21.3 microdeletion syndrome (ORPHA:352665)
Gene: HNRNPK
Phenotype: Shallow orbits (HP:0000586)
Associated disease: Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation (ORPHA:453504)
Gene: HNRNPK
Phenotype: Coloboma (HP:0000589)
Associated disease: Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation (ORPHA:453504)
Gene: HNRNPK
Phenotype: Coloboma (HP:0000589)
Associated disease: Del(9)(q21.3); Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion; 9q21.3 microdeletion syndrome (ORPHA:352665)
Gene: HNRNPK
Phenotype: Hypermetropia (HP:0000540)
Associated disease: Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation (ORPHA:453504)
Gene: HNRNPK
Phenotype: Hypermetropia (HP:0000540)
Associated disease: AU-KLINE SYNDROME (OMIM:616580)
Gene: HNRNPK
Phenotype: Hypermetropia (HP:0000540)
Associated disease: Del(9)(q21.3); Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion; 9q21.3 microdeletion syndrome (ORPHA:352665)
Gene: HNRNPK
Phenotype: Deep plantar creases (HP:0001869)
Associated disease: AU-KLINE SYNDROME (OMIM:616580)
Gene: HNRNPK
Phenotype: Myopia (HP:0000545)
Associated disease: Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation (ORPHA:453504)
Gene: HNRNPK
Phenotype: Myopia (HP:0000545)
Associated disease: Del(9)(q21.3); Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion; 9q21.3 microdeletion syndrome (ORPHA:352665)
Gene: HNRNPU
Phenotype: Atypical absence seizure (HP:0007270)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 54 (OMIM:617391)
Gene: HNRNPU
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: 1q44 microdeletion syndrome; Del(1)(q44); Monosomy 1q44 (ORPHA:238769)
Gene: HNRNPU
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 54 (OMIM:617391)
Gene: HNRNPU
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: 1q44 microdeletion syndrome; Del(1)(q44); Monosomy 1q44 (ORPHA:238769)
Gene: HNRNPU
Phenotype: Seizure (HP:0001250)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 54 (OMIM:617391)
Gene: HNRNPU
Phenotype: Hypotonia (HP:0001252)
Associated disease: 1q44 microdeletion syndrome; Del(1)(q44); Monosomy 1q44 (ORPHA:238769)
Gene: HNRNPU
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 54 (OMIM:617391)
Gene: HNRNPU
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 54 (OMIM:617391)
Gene: HNRNPU
Phenotype: Global developmental delay (HP:0001263)
Associated disease: 1q44 microdeletion syndrome; Del(1)(q44); Monosomy 1q44 (ORPHA:238769)
Gene: HNRNPU
Phenotype: Intestinal malrotation (HP:0002566)
Associated disease: 1q44 microdeletion syndrome; Del(1)(q44); Monosomy 1q44 (ORPHA:238769)
Gene: HNRNPU
Phenotype: Horseshoe kidney (HP:0000085)
Associated disease: 1q44 microdeletion syndrome; Del(1)(q44); Monosomy 1q44 (ORPHA:238769)
Gene: HNRNPU
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: 1q44 microdeletion syndrome; Del(1)(q44); Monosomy 1q44 (ORPHA:238769)
Gene: HNRNPU
Phenotype: Absent speech (HP:0001344)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 54 (OMIM:617391)
Gene: HNRNPU
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 54 (OMIM:617391)
Gene: HNRNPU
Phenotype: Myoclonus (HP:0001336)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 54 (OMIM:617391)
Gene: HNRNPU
Phenotype: Scoliosis (HP:0002650)
Associated disease: 1q44 microdeletion syndrome; Del(1)(q44); Monosomy 1q44 (ORPHA:238769)
Gene: HNRNPU
Phenotype: Frontal bossing (HP:0002007)
Associated disease: 1q44 microdeletion syndrome; Del(1)(q44); Monosomy 1q44 (ORPHA:238769)
Gene: HNRNPU
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: 1q44 microdeletion syndrome; Del(1)(q44); Monosomy 1q44 (ORPHA:238769)
Gene: HNRNPU
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 54 (OMIM:617391)
Gene: HNRNPU
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 54 (OMIM:617391)
Gene: HNRNPU
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: 1q44 microdeletion syndrome; Del(1)(q44); Monosomy 1q44 (ORPHA:238769)
Gene: HNRNPU
Phenotype: Exaggerated cupid's bow (HP:0002263)
Associated disease: 1q44 microdeletion syndrome; Del(1)(q44); Monosomy 1q44 (ORPHA:238769)
Gene: HNRNPU
Phenotype: Infantile onset (HP:0003593)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 54 (OMIM:617391)
Gene: HNRNPU
Phenotype: Epileptic encephalopathy (HP:0200134)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 54 (OMIM:617391)
Gene: HNRNPU
Phenotype: Developmental regression (HP:0002376)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 54 (OMIM:617391)
Gene: HNRNPU
Phenotype: EEG abnormality (HP:0002353)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 54 (OMIM:617391)
Gene: HNRNPU
Phenotype: Atonic seizure (HP:0010819)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 54 (OMIM:617391)
Gene: HNRNPU
Phenotype: Synophrys (HP:0000664)
Associated disease: 1q44 microdeletion syndrome; Del(1)(q44); Monosomy 1q44 (ORPHA:238769)
Gene: HNRNPU
Phenotype: Short stature (HP:0004322)
Associated disease: 1q44 microdeletion syndrome; Del(1)(q44); Monosomy 1q44 (ORPHA:238769)
Gene: HNRNPU
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: 1q44 microdeletion syndrome; Del(1)(q44); Monosomy 1q44 (ORPHA:238769)
Gene: HNRNPU
Phenotype: Biparietal narrowing (HP:0004422)
Associated disease: 1q44 microdeletion syndrome; Del(1)(q44); Monosomy 1q44 (ORPHA:238769)
Gene: HNRNPU
Phenotype: Epicanthus (HP:0000286)
Associated disease: 1q44 microdeletion syndrome; Del(1)(q44); Monosomy 1q44 (ORPHA:238769)
Gene: HNRNPU
Phenotype: Optic disc hypoplasia (HP:0007766)
Associated disease: 1q44 microdeletion syndrome; Del(1)(q44); Monosomy 1q44 (ORPHA:238769)
Gene: HNRNPU
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: 1q44 microdeletion syndrome; Del(1)(q44); Monosomy 1q44 (ORPHA:238769)
Gene: HNRNPU
Phenotype: Microcephaly (HP:0000252)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 54 (OMIM:617391)
Gene: HNRNPU
Phenotype: Microcephaly (HP:0000252)
Associated disease: 1q44 microdeletion syndrome; Del(1)(q44); Monosomy 1q44 (ORPHA:238769)
Gene: HNRNPU
Phenotype: High palate (HP:0000218)
Associated disease: 1q44 microdeletion syndrome; Del(1)(q44); Monosomy 1q44 (ORPHA:238769)
Gene: HNRNPU
Phenotype: Thin vermilion border (HP:0000233)
Associated disease: 1q44 microdeletion syndrome; Del(1)(q44); Monosomy 1q44 (ORPHA:238769)
Gene: HNRNPU
Phenotype: Growth delay (HP:0001510)
Associated disease: 1q44 microdeletion syndrome; Del(1)(q44); Monosomy 1q44 (ORPHA:238769)
Gene: HNRNPU
Phenotype: Preauricular skin tag (HP:0000384)
Associated disease: 1q44 microdeletion syndrome; Del(1)(q44); Monosomy 1q44 (ORPHA:238769)
Gene: HNRNPU
Phenotype: Abnormal cardiac septum morphology (HP:0001671)
Associated disease: 1q44 microdeletion syndrome; Del(1)(q44); Monosomy 1q44 (ORPHA:238769)
Gene: HNRNPU
Phenotype: Tonic seizure (HP:0032792)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 54 (OMIM:617391)
Gene: HNRNPU
Phenotype: High forehead (HP:0000348)
Associated disease: 1q44 microdeletion syndrome; Del(1)(q44); Monosomy 1q44 (ORPHA:238769)
Gene: HNRNPU
Phenotype: Micrognathia (HP:0000347)
Associated disease: 1q44 microdeletion syndrome; Del(1)(q44); Monosomy 1q44 (ORPHA:238769)
Gene: HNRNPU
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: 1q44 microdeletion syndrome; Del(1)(q44); Monosomy 1q44 (ORPHA:238769)
Gene: HNRNPU
Phenotype: Hypertelorism (HP:0000316)
Associated disease: 1q44 microdeletion syndrome; Del(1)(q44); Monosomy 1q44 (ORPHA:238769)
Gene: HNRNPU
Phenotype: Status epilepticus without prominent motor symptoms (HP:0031475)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 54 (OMIM:617391)
Gene: HNRNPU
Phenotype: Strabismus (HP:0000486)
Associated disease: 1q44 microdeletion syndrome; Del(1)(q44); Monosomy 1q44 (ORPHA:238769)
Gene: HNRNPU
Phenotype: Delayed myelination (HP:0012448)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 54 (OMIM:617391)
Gene: HNRNPU
Phenotype: Prominent metopic ridge (HP:0005487)
Associated disease: 1q44 microdeletion syndrome; Del(1)(q44); Monosomy 1q44 (ORPHA:238769)
Gene: HNRNPU
Phenotype: Telecanthus (HP:0000506)
Associated disease: 1q44 microdeletion syndrome; Del(1)(q44); Monosomy 1q44 (ORPHA:238769)
Gene: HNRNPU
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: 1q44 microdeletion syndrome; Del(1)(q44); Monosomy 1q44 (ORPHA:238769)
Gene: HOXA1
Phenotype: Duane anomaly (HP:0009921)
Associated disease: ATHABASKAN BRAINSTEM DYSGENESIS SYNDROME (OMIM:601536)
Gene: HOXA1
Phenotype: Seizure (HP:0001250)
Associated disease: ATHABASKAN BRAINSTEM DYSGENESIS SYNDROME (OMIM:601536)
Gene: HOXA1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ATHABASKAN BRAINSTEM DYSGENESIS SYNDROME (OMIM:601536)
Gene: HOXA1
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: ATHABASKAN BRAINSTEM DYSGENESIS SYNDROME (OMIM:601536)
Gene: HOXA1
Phenotype: Central hypoventilation (HP:0007110)
Associated disease: ATHABASKAN BRAINSTEM DYSGENESIS SYNDROME (OMIM:601536)
Gene: HOXA1
Phenotype: Horizontal supranuclear gaze palsy (HP:0007817)
Associated disease: ATHABASKAN BRAINSTEM DYSGENESIS SYNDROME (OMIM:601536)
Gene: HOXA1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: ATHABASKAN BRAINSTEM DYSGENESIS SYNDROME (OMIM:601536)
Gene: HOXA1
Phenotype: Internal carotid artery hypoplasia (HP:0005290)
Associated disease: ATHABASKAN BRAINSTEM DYSGENESIS SYNDROME (OMIM:601536)
Gene: HOXA2
Phenotype: Hypoplastic helices (HP:0008589)
Associated disease: Microtia (ORPHA:83463)
Gene: HOXA2
Phenotype: Anotia (HP:0009892)
Associated disease: Microtia (ORPHA:83463)
Gene: HOXA2
Phenotype: Microtia (HP:0008551)
Associated disease: Microtia (ORPHA:83463)
Gene: HOXA2
Phenotype: Microtia (HP:0008551)
Associated disease: MICROTIA, HEARING IMPAIRMENT, AND CLEFT PALATE (OMIM:612290)
Gene: HOXA2
Phenotype: Holoprosencephaly (HP:0001360)
Associated disease: Microtia (ORPHA:83463)
Gene: HOXA2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MICROTIA, HEARING IMPAIRMENT, AND CLEFT PALATE (OMIM:612290)
Gene: HOXA2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MICROTIA, HEARING IMPAIRMENT, AND CLEFT PALATE (OMIM:612290)
Gene: HOXA2
Phenotype: Cleft palate (HP:0000175)
Associated disease: MICROTIA, HEARING IMPAIRMENT, AND CLEFT PALATE (OMIM:612290)
Gene: HOXA2
Phenotype: Increased incisura length (HP:0031229)
Associated disease: MICROTIA, HEARING IMPAIRMENT, AND CLEFT PALATE (OMIM:612290)
Gene: HOXA2
Phenotype: Congenital onset (HP:0003577)
Associated disease: MICROTIA, HEARING IMPAIRMENT, AND CLEFT PALATE (OMIM:612290)
Gene: HOXA2
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: Microtia (ORPHA:83463)
Gene: HOXA2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Microtia (ORPHA:83463)
Gene: HOXA2
Phenotype: Unilateral conductive hearing impairment (HP:0040119)
Associated disease: Microtia (ORPHA:83463)
Gene: HOXA2
Phenotype: Abnormal pinna morphology (HP:0000377)
Associated disease: Microtia (ORPHA:83463)
Gene: HOXA2
Phenotype: Overfolded helix (HP:0000396)
Associated disease: MICROTIA, HEARING IMPAIRMENT, AND CLEFT PALATE (OMIM:612290)
Gene: HOXA2
Phenotype: Stenosis of the external auditory canal (HP:0000402)
Associated disease: MICROTIA, HEARING IMPAIRMENT, AND CLEFT PALATE (OMIM:612290)
Gene: HOXA2
Phenotype: Mixed hearing impairment (HP:0000410)
Associated disease: MICROTIA, HEARING IMPAIRMENT, AND CLEFT PALATE (OMIM:612290)
Gene: HOXA2
Phenotype: Atresia of the external auditory canal (HP:0000413)
Associated disease: Microtia (ORPHA:83463)
Gene: HOXA11
Phenotype: Syndactyly (HP:0001159)
Associated disease: RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 1 (OMIM:605432)
Gene: HOXA11
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HOXA11
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HOXA11
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HOXA11
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HOXA11
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HOXA11
Phenotype: Finger syndactyly (HP:0006101)
Associated disease: Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome; ATRUS syndrome (ORPHA:71289)
Gene: HOXA11
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HOXA11
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome; ATRUS syndrome (ORPHA:71289)
Gene: HOXA11
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HOXA11
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HOXA11
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HOXA11
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HOXA11
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HOXA11
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HOXA11
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HOXA11
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 1 (OMIM:605432)
Gene: HOXA11
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HOXA11
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HOXA11
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HOXA11
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HOXA11
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HOXA11
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HOXA11
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HOXA11
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HOXA11
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HOXA11
Phenotype: Amegakaryocytic thrombocytopenia (HP:0004859)
Associated disease: Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome; ATRUS syndrome (ORPHA:71289)
Gene: HOXA11
Phenotype: Amegakaryocytic thrombocytopenia (HP:0004859)
Associated disease: RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 1 (OMIM:605432)
Gene: HOXA11
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HOXA11
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HOXA11
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HOXA11
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HOXA11
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HOXA11
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HOXA11
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HOXA11
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome; ATRUS syndrome (ORPHA:71289)
Gene: HOXA11
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 1 (OMIM:605432)
Gene: HOXA11
Phenotype: Megakaryocytopenia (HP:0005548)
Associated disease: RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 1 (OMIM:605432)
Gene: HOXA11
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HOXA11
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HOXA11
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HOXA11
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HOXA11
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HOXA11
Phenotype: Congenital thrombocytopenia (HP:0001905)
Associated disease: RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 1 (OMIM:605432)
Gene: HOXA11
Phenotype: Aplastic anemia (HP:0001915)
Associated disease: RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 1 (OMIM:605432)
Gene: HOXA11
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HOXA11
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HOXA11
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HOXA11
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HOXA11
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HOXA11
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HOXA11
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HOXA11
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)