TaoMedAI/RareMedData huggingface dataset:
Gene: TMEM94
Phenotype: Mesenteric cyst (HP:0030451)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC DEFECTS AND DYSMORPHIC FACIES (OMIM:618316)
Gene: TMEM94
Phenotype: Synophrys (HP:0000664)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC DEFECTS AND DYSMORPHIC FACIES (OMIM:618316)
Gene: TMEM94
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC DEFECTS AND DYSMORPHIC FACIES (OMIM:618316)
Gene: TMEM94
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC DEFECTS AND DYSMORPHIC FACIES (OMIM:618316)
Gene: TMEM94
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC DEFECTS AND DYSMORPHIC FACIES (OMIM:618316)
Gene: TMEM94
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC DEFECTS AND DYSMORPHIC FACIES (OMIM:618316)
Gene: TMEM94
Phenotype: Short nose (HP:0003196)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC DEFECTS AND DYSMORPHIC FACIES (OMIM:618316)
Gene: TMEM94
Phenotype: Parachute mitral valve (HP:0011571)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC DEFECTS AND DYSMORPHIC FACIES (OMIM:618316)
Gene: TMEM94
Phenotype: Hypertrichosis (HP:0000998)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC DEFECTS AND DYSMORPHIC FACIES (OMIM:618316)
Gene: TMEM94
Phenotype: Macrocephaly (HP:0000256)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC DEFECTS AND DYSMORPHIC FACIES (OMIM:618316)
Gene: TMEM94
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC DEFECTS AND DYSMORPHIC FACIES (OMIM:618316)
Gene: TMEM94
Phenotype: Omphalocele (HP:0001539)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC DEFECTS AND DYSMORPHIC FACIES (OMIM:618316)
Gene: TMEM94
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC DEFECTS AND DYSMORPHIC FACIES (OMIM:618316)
Gene: TMEM94
Phenotype: Low-set ears (HP:0000369)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC DEFECTS AND DYSMORPHIC FACIES (OMIM:618316)
Gene: TMEM94
Phenotype: Long philtrum (HP:0000343)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC DEFECTS AND DYSMORPHIC FACIES (OMIM:618316)
Gene: TMEM94
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC DEFECTS AND DYSMORPHIC FACIES (OMIM:618316)
Gene: TMEM94
Phenotype: Hypertelorism (HP:0000316)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC DEFECTS AND DYSMORPHIC FACIES (OMIM:618316)
Gene: TMEM94
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC DEFECTS AND DYSMORPHIC FACIES (OMIM:618316)
Gene: TMEM94
Phenotype: Short philtrum (HP:0000322)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC DEFECTS AND DYSMORPHIC FACIES (OMIM:618316)
Gene: TMEM94
Phenotype: Triangular face (HP:0000325)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC DEFECTS AND DYSMORPHIC FACIES (OMIM:618316)
Gene: TMEM94
Phenotype: Patent foramen ovale (HP:0001655)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC DEFECTS AND DYSMORPHIC FACIES (OMIM:618316)
Gene: TMEM94
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC DEFECTS AND DYSMORPHIC FACIES (OMIM:618316)
Gene: TMEM94
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC DEFECTS AND DYSMORPHIC FACIES (OMIM:618316)
Gene: TMEM94
Phenotype: Pointed chin (HP:0000307)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC DEFECTS AND DYSMORPHIC FACIES (OMIM:618316)
Gene: TMEM94
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC DEFECTS AND DYSMORPHIC FACIES (OMIM:618316)
Gene: TMEM94
Phenotype: Wide intermamillary distance (HP:0006610)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC DEFECTS AND DYSMORPHIC FACIES (OMIM:618316)
Gene: TMEM94
Phenotype: Double outlet right ventricle (HP:0001719)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC DEFECTS AND DYSMORPHIC FACIES (OMIM:618316)
Gene: TMEM94
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC DEFECTS AND DYSMORPHIC FACIES (OMIM:618316)
Gene: TMEM94
Phenotype: Strabismus (HP:0000486)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC DEFECTS AND DYSMORPHIC FACIES (OMIM:618316)
Gene: TMEM94
Phenotype: Deeply set eye (HP:0000490)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC DEFECTS AND DYSMORPHIC FACIES (OMIM:618316)
Gene: TMEM94
Phenotype: Anteverted nares (HP:0000463)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC DEFECTS AND DYSMORPHIC FACIES (OMIM:618316)
Gene: TMEM94
Phenotype: Webbed neck (HP:0000465)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC DEFECTS AND DYSMORPHIC FACIES (OMIM:618316)
Gene: TMEM94
Phenotype: Prominent nose (HP:0000448)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC DEFECTS AND DYSMORPHIC FACIES (OMIM:618316)
Gene: TMEM94
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC DEFECTS AND DYSMORPHIC FACIES (OMIM:618316)
Gene: TMEM94
Phenotype: Overlapping toe (HP:0001845)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC DEFECTS AND DYSMORPHIC FACIES (OMIM:618316)
Gene: TMEM94
Phenotype: Myopia (HP:0000545)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC DEFECTS AND DYSMORPHIC FACIES (OMIM:618316)
Gene: EIF4A3
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EIF4A3
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EIF4A3
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EIF4A3
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EIF4A3
Phenotype: Global developmental delay (HP:0001263)
Associated disease: ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES (OMIM:268305)
Gene: EIF4A3
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EIF4A3
Phenotype: Small thenar eminence (HP:0001245)
Associated disease: ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES (OMIM:268305)
Gene: EIF4A3
Phenotype: Small thenar eminence (HP:0001245)
Associated disease: Short stature-Pierre Robin syndrome-cleft mandible-hand anomalies clubfoot syndrome; Short stature-Pierre Robin sequence-cleft mandible-hand anomalies clubfoot syndrome; Richieri Costa-Pereira syndrome (ORPHA:3102)
Gene: EIF4A3
Phenotype: Aplasia of the epiglottis (HP:0008753)
Associated disease: ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES (OMIM:268305)
Gene: EIF4A3
Phenotype: Abnormal aryepiglottic fold morphology (HP:0008744)
Associated disease: Short stature-Pierre Robin syndrome-cleft mandible-hand anomalies clubfoot syndrome; Short stature-Pierre Robin sequence-cleft mandible-hand anomalies clubfoot syndrome; Richieri Costa-Pereira syndrome (ORPHA:3102)
Gene: EIF4A3
Phenotype: Abnormal aryepiglottic fold morphology (HP:0008744)
Associated disease: ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES (OMIM:268305)
Gene: EIF4A3
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EIF4A3
Phenotype: Acetabular dysplasia (HP:0008807)
Associated disease: ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES (OMIM:268305)
Gene: EIF4A3
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EIF4A3
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EIF4A3
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EIF4A3
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: Short stature-Pierre Robin syndrome-cleft mandible-hand anomalies clubfoot syndrome; Short stature-Pierre Robin sequence-cleft mandible-hand anomalies clubfoot syndrome; Richieri Costa-Pereira syndrome (ORPHA:3102)
Gene: EIF4A3
Phenotype: Specific learning disability (HP:0001328)
Associated disease: Short stature-Pierre Robin syndrome-cleft mandible-hand anomalies clubfoot syndrome; Short stature-Pierre Robin sequence-cleft mandible-hand anomalies clubfoot syndrome; Richieri Costa-Pereira syndrome (ORPHA:3102)
Gene: EIF4A3
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EIF4A3
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EIF4A3
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EIF4A3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES (OMIM:268305)
Gene: EIF4A3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EIF4A3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EIF4A3
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EIF4A3
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EIF4A3
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: Short stature-Pierre Robin syndrome-cleft mandible-hand anomalies clubfoot syndrome; Short stature-Pierre Robin sequence-cleft mandible-hand anomalies clubfoot syndrome; Richieri Costa-Pereira syndrome (ORPHA:3102)
Gene: EIF4A3
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EIF4A3
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EIF4A3
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EIF4A3
Phenotype: Bifid uvula (HP:0000193)
Associated disease: Short stature-Pierre Robin syndrome-cleft mandible-hand anomalies clubfoot syndrome; Short stature-Pierre Robin sequence-cleft mandible-hand anomalies clubfoot syndrome; Richieri Costa-Pereira syndrome (ORPHA:3102)
Gene: EIF4A3
Phenotype: Bifid uvula (HP:0000193)
Associated disease: ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES (OMIM:268305)
Gene: EIF4A3
Phenotype: Narrow mouth (HP:0000160)
Associated disease: ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES (OMIM:268305)
Gene: EIF4A3
Phenotype: Cleft palate (HP:0000175)
Associated disease: ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES (OMIM:268305)
Gene: EIF4A3
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EIF4A3
Phenotype: Mesomelic arm shortening (HP:0005011)
Associated disease: Short stature-Pierre Robin syndrome-cleft mandible-hand anomalies clubfoot syndrome; Short stature-Pierre Robin sequence-cleft mandible-hand anomalies clubfoot syndrome; Richieri Costa-Pereira syndrome (ORPHA:3102)
Gene: EIF4A3
Phenotype: Mesomelic arm shortening (HP:0005011)
Associated disease: ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES (OMIM:268305)
Gene: EIF4A3
Phenotype: Agenesis of mandibular central incisor (HP:0006355)
Associated disease: Short stature-Pierre Robin syndrome-cleft mandible-hand anomalies clubfoot syndrome; Short stature-Pierre Robin sequence-cleft mandible-hand anomalies clubfoot syndrome; Richieri Costa-Pereira syndrome (ORPHA:3102)
Gene: EIF4A3
Phenotype: Agenesis of mandibular central incisor (HP:0006355)
Associated disease: ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES (OMIM:268305)
Gene: EIF4A3
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EIF4A3
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EIF4A3
Phenotype: Small hypothenar eminence (HP:0010487)
Associated disease: ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES (OMIM:268305)
Gene: EIF4A3
Phenotype: Radial deviation of the hand (HP:0009486)
Associated disease: ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES (OMIM:268305)
Gene: EIF4A3
Phenotype: Proximal placement of thumb (HP:0009623)
Associated disease: ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES (OMIM:268305)
Gene: EIF4A3
Phenotype: Aplasia/Hypoplasia of the thumb (HP:0009601)
Associated disease: Short stature-Pierre Robin syndrome-cleft mandible-hand anomalies clubfoot syndrome; Short stature-Pierre Robin sequence-cleft mandible-hand anomalies clubfoot syndrome; Richieri Costa-Pereira syndrome (ORPHA:3102)
Gene: EIF4A3
Phenotype: Aplasia/Hypoplasia of the Epiglottis (HP:0010565)
Associated disease: Short stature-Pierre Robin syndrome-cleft mandible-hand anomalies clubfoot syndrome; Short stature-Pierre Robin sequence-cleft mandible-hand anomalies clubfoot syndrome; Richieri Costa-Pereira syndrome (ORPHA:3102)
Gene: EIF4A3
Phenotype: Tibial deviation of toes (HP:0100499)
Associated disease: ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES (OMIM:268305)
Gene: EIF4A3
Phenotype: Congenital onset (HP:0003577)
Associated disease: ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES (OMIM:268305)
Gene: EIF4A3
Phenotype: Agenesis of mandibular lateral incisor (HP:0200154)
Associated disease: Short stature-Pierre Robin syndrome-cleft mandible-hand anomalies clubfoot syndrome; Short stature-Pierre Robin sequence-cleft mandible-hand anomalies clubfoot syndrome; Richieri Costa-Pereira syndrome (ORPHA:3102)
Gene: EIF4A3
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES (OMIM:268305)
Gene: EIF4A3
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EIF4A3
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EIF4A3
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EIF4A3
Phenotype: Mesomelic leg shortening (HP:0004987)
Associated disease: Short stature-Pierre Robin syndrome-cleft mandible-hand anomalies clubfoot syndrome; Short stature-Pierre Robin sequence-cleft mandible-hand anomalies clubfoot syndrome; Richieri Costa-Pereira syndrome (ORPHA:3102)
Gene: EIF4A3
Phenotype: Mesomelic leg shortening (HP:0004987)
Associated disease: ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES (OMIM:268305)
Gene: EIF4A3
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EIF4A3
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES (OMIM:268305)
Gene: EIF4A3
Phenotype: Cleft mandible (HP:0010752)
Associated disease: Short stature-Pierre Robin syndrome-cleft mandible-hand anomalies clubfoot syndrome; Short stature-Pierre Robin sequence-cleft mandible-hand anomalies clubfoot syndrome; Richieri Costa-Pereira syndrome (ORPHA:3102)
Gene: EIF4A3
Phenotype: Cleft mandible (HP:0010752)
Associated disease: ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES (OMIM:268305)
Gene: EIF4A3
Phenotype: Short thumb (HP:0009778)
Associated disease: ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES (OMIM:268305)
Gene: EIF4A3
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EIF4A3
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EIF4A3
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EIF4A3
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: Short stature-Pierre Robin syndrome-cleft mandible-hand anomalies clubfoot syndrome; Short stature-Pierre Robin sequence-cleft mandible-hand anomalies clubfoot syndrome; Richieri Costa-Pereira syndrome (ORPHA:3102)
Gene: EIF4A3
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES (OMIM:268305)
Gene: EIF4A3
Phenotype: Cleft lower alveolar ridge (HP:0009094)
Associated disease: ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES (OMIM:268305)
Gene: EIF4A3
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EIF4A3
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EIF4A3
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EIF4A3
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EIF4A3
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EIF4A3
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EIF4A3
Phenotype: Short metacarpal (HP:0010049)
Associated disease: ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES (OMIM:268305)
Gene: EIF4A3
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EIF4A3
Phenotype: Agenesis of maxillary lateral incisor (HP:0000690)
Associated disease: Short stature-Pierre Robin syndrome-cleft mandible-hand anomalies clubfoot syndrome; Short stature-Pierre Robin sequence-cleft mandible-hand anomalies clubfoot syndrome; Richieri Costa-Pereira syndrome (ORPHA:3102)
Gene: EIF4A3
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EIF4A3
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EIF4A3
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EIF4A3
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EIF4A3
Phenotype: Short stature (HP:0004322)
Associated disease: ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES (OMIM:268305)
Gene: EIF4A3
Phenotype: Short stature (HP:0004322)
Associated disease: Short stature-Pierre Robin syndrome-cleft mandible-hand anomalies clubfoot syndrome; Short stature-Pierre Robin sequence-cleft mandible-hand anomalies clubfoot syndrome; Richieri Costa-Pereira syndrome (ORPHA:3102)
Gene: EIF4A3
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EIF4A3
Phenotype: Fibular hypoplasia (HP:0003038)
Associated disease: Short stature-Pierre Robin syndrome-cleft mandible-hand anomalies clubfoot syndrome; Short stature-Pierre Robin sequence-cleft mandible-hand anomalies clubfoot syndrome; Richieri Costa-Pereira syndrome (ORPHA:3102)
Gene: EIF4A3
Phenotype: Fibular hypoplasia (HP:0003038)
Associated disease: ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES (OMIM:268305)
Gene: EIF4A3
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EIF4A3
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EIF4A3
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EIF4A3
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EIF4A3
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EIF4A3
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EIF4A3
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EIF4A3
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EIF4A3
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES (OMIM:268305)
Gene: EIF4A3
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EIF4A3
Phenotype: Hypoplasia of the calcaneus (HP:0012789)
Associated disease: Short stature-Pierre Robin syndrome-cleft mandible-hand anomalies clubfoot syndrome; Short stature-Pierre Robin sequence-cleft mandible-hand anomalies clubfoot syndrome; Richieri Costa-Pereira syndrome (ORPHA:3102)
Gene: EIF4A3
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EIF4A3
Phenotype: Short hallux (HP:0010109)
Associated disease: Short stature-Pierre Robin syndrome-cleft mandible-hand anomalies clubfoot syndrome; Short stature-Pierre Robin sequence-cleft mandible-hand anomalies clubfoot syndrome; Richieri Costa-Pereira syndrome (ORPHA:3102)
Gene: EIF4A3
Phenotype: Short hallux (HP:0010109)
Associated disease: ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES (OMIM:268305)
Gene: EIF4A3
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EIF4A3
Phenotype: Short tibia (HP:0005736)
Associated disease: Short stature-Pierre Robin syndrome-cleft mandible-hand anomalies clubfoot syndrome; Short stature-Pierre Robin sequence-cleft mandible-hand anomalies clubfoot syndrome; Richieri Costa-Pereira syndrome (ORPHA:3102)
Gene: EIF4A3
Phenotype: Short tibia (HP:0005736)
Associated disease: ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES (OMIM:268305)
Gene: EIF4A3
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EIF4A3
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EIF4A3
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EIF4A3
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EIF4A3
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EIF4A3
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EIF4A3
Phenotype: Short 5th finger (HP:0009237)
Associated disease: Short stature-Pierre Robin syndrome-cleft mandible-hand anomalies clubfoot syndrome; Short stature-Pierre Robin sequence-cleft mandible-hand anomalies clubfoot syndrome; Richieri Costa-Pereira syndrome (ORPHA:3102)
Gene: EIF4A3
Phenotype: Short 5th finger (HP:0009237)
Associated disease: ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES (OMIM:268305)
Gene: EIF4A3
Phenotype: 4-5 metacarpal synostosis (HP:0005867)
Associated disease: ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES (OMIM:268305)
Gene: EIF4A3
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EIF4A3
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EIF4A3
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EIF4A3
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EIF4A3
Phenotype: Hip dislocation (HP:0002827)
Associated disease: ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES (OMIM:268305)
Gene: EIF4A3
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EIF4A3
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)