TaoMedAI/RareMedData huggingface dataset:
Gene: DVL1
Phenotype: Congenital onset (HP:0003577)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 (OMIM:616331)
Gene: DVL1
Phenotype: Congenital onset (HP:0003577)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1 (OMIM:180700)
Gene: DVL1
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 (OMIM:616331)
Gene: DVL1
Phenotype: Ridged fingernail (HP:0008402)
Associated disease: Autosomal dominant Robinow syndrome (ORPHA:3107)
Gene: DVL1
Phenotype: Fingernail dysplasia (HP:0100798)
Associated disease: Autosomal dominant Robinow syndrome (ORPHA:3107)
Gene: DVL1
Phenotype: Abnormal atrial septum morphology (HP:0011994)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 (OMIM:616331)
Gene: DVL1
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DVL1
Phenotype: Severe short stature (HP:0003510)
Associated disease: Autosomal dominant Robinow syndrome (ORPHA:3107)
Gene: DVL1
Phenotype: Nevus flammeus (HP:0001052)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1 (OMIM:180700)
Gene: DVL1
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DVL1
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DVL1
Phenotype: Open bite (HP:0010807)
Associated disease: Autosomal dominant Robinow syndrome (ORPHA:3107)
Gene: DVL1
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DVL1
Phenotype: Small hand (HP:0200055)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1 (OMIM:180700)
Gene: DVL1
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DVL1
Phenotype: Naevus flammeus of the eyelid (HP:0010733)
Associated disease: Autosomal dominant Robinow syndrome (ORPHA:3107)
Gene: DVL1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DVL1
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DVL1
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: Autosomal dominant Robinow syndrome (ORPHA:3107)
Gene: DVL1
Phenotype: Median cleft palate (HP:0009099)
Associated disease: Autosomal dominant Robinow syndrome (ORPHA:3107)
Gene: DVL1
Phenotype: Short palm (HP:0004279)
Associated disease: Autosomal dominant Robinow syndrome (ORPHA:3107)
Gene: DVL1
Phenotype: Short palm (HP:0004279)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1 (OMIM:180700)
Gene: DVL1
Phenotype: Short middle phalanx of the 5th finger (HP:0004220)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1 (OMIM:180700)
Gene: DVL1
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DVL1
Phenotype: Long palpebral fissure (HP:0000637)
Associated disease: Autosomal dominant Robinow syndrome (ORPHA:3107)
Gene: DVL1
Phenotype: Long palpebral fissure (HP:0000637)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1 (OMIM:180700)
Gene: DVL1
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DVL1
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DVL1
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DVL1
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DVL1
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DVL1
Phenotype: Broad hallux (HP:0010055)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 (OMIM:616331)
Gene: DVL1
Phenotype: Delayed eruption of teeth (HP:0000684)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1 (OMIM:180700)
Gene: DVL1
Phenotype: Dental crowding (HP:0000678)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 (OMIM:616331)
Gene: DVL1
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DVL1
Phenotype: Dental crowding (HP:0000678)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1 (OMIM:180700)
Gene: DVL1
Phenotype: Anodontia (HP:0000674)
Associated disease: Autosomal dominant Robinow syndrome (ORPHA:3107)
Gene: DVL1
Phenotype: Oligodontia (HP:0000677)
Associated disease: Autosomal dominant Robinow syndrome (ORPHA:3107)
Gene: DVL1
Phenotype: Oligodontia (HP:0000677)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 (OMIM:616331)
Gene: DVL1
Phenotype: Dental malocclusion (HP:0000689)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 (OMIM:616331)
Gene: DVL1
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DVL1
Phenotype: Broad thumb (HP:0011304)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 (OMIM:616331)
Gene: DVL1
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DVL1
Phenotype: Broad thumb (HP:0011304)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1 (OMIM:180700)
Gene: DVL1
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DVL1
Phenotype: Hypodontia (HP:0000668)
Associated disease: Autosomal dominant Robinow syndrome (ORPHA:3107)
Gene: DVL1
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DVL1
Phenotype: Short stature (HP:0004322)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1 (OMIM:180700)
Gene: DVL1
Phenotype: Short stature (HP:0004322)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 (OMIM:616331)
Gene: DVL1
Phenotype: Short stature (HP:0004322)
Associated disease: Autosomal dominant Robinow syndrome (ORPHA:3107)
Gene: DVL1
Phenotype: Dislocated radial head (HP:0003083)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1 (OMIM:180700)
Gene: DVL1
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DVL1
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DVL1
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DVL1
Phenotype: Elbow dislocation (HP:0003042)
Associated disease: Autosomal dominant Robinow syndrome (ORPHA:3107)
Gene: DVL1
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DVL1
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DVL1
Phenotype: Short long bone (HP:0003026)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1 (OMIM:180700)
Gene: DVL1
Phenotype: Mesomelia (HP:0003027)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 (OMIM:616331)
Gene: DVL1
Phenotype: Mesomelia (HP:0003027)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1 (OMIM:180700)
Gene: DVL1
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DVL1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1 (OMIM:180700)
Gene: DVL1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: Autosomal dominant Robinow syndrome (ORPHA:3107)
Gene: DVL1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DVL1
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: Autosomal dominant Robinow syndrome (ORPHA:3107)
Gene: DVL1
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DVL1
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DVL1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DVL1
Phenotype: Fetal onset (HP:0011461)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 (OMIM:616331)
Gene: DVL1
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DVL1
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DVL1
Phenotype: Avascular necrosis of the capital femoral epiphysis (HP:0005743)
Associated disease: Autosomal dominant Robinow syndrome (ORPHA:3107)
Gene: DVL1
Phenotype: Euryblepharon (HP:0012905)
Associated disease: Autosomal dominant Robinow syndrome (ORPHA:3107)
Gene: DVL1
Phenotype: Short nose (HP:0003196)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 (OMIM:616331)
Gene: DVL1
Phenotype: Short nose (HP:0003196)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1 (OMIM:180700)
Gene: DVL1
Phenotype: Short nose (HP:0003196)
Associated disease: Autosomal dominant Robinow syndrome (ORPHA:3107)
Gene: DVL1
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DVL1
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DVL1
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DVL1
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DVL1
Phenotype: Limited hip extension (HP:0003093)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 (OMIM:616331)
Gene: DVL1
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DVL1
Phenotype: Absent uvula (HP:0010292)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 (OMIM:616331)
Gene: DVL1
Phenotype: Bifid tongue (HP:0010297)
Associated disease: Autosomal dominant Robinow syndrome (ORPHA:3107)
Gene: DVL1
Phenotype: Bifid tongue (HP:0010297)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1 (OMIM:180700)
Gene: DVL1
Phenotype: Bifid tongue (HP:0010297)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 (OMIM:616331)
Gene: DVL1
Phenotype: Short hard palate (HP:0010290)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1 (OMIM:180700)
Gene: DVL1
Phenotype: Onychogryphosis of fingernail (HP:0040036)
Associated disease: Autosomal dominant Robinow syndrome (ORPHA:3107)
Gene: DVL1
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DVL1
Phenotype: Limited elbow extension and supination (HP:0005852)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1 (OMIM:180700)
Gene: DVL1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DVL1
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DVL1
Phenotype: Sacral dimple (HP:0000960)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 (OMIM:616331)
Gene: DVL1
Phenotype: Sacral dimple (HP:0000960)
Associated disease: Autosomal dominant Robinow syndrome (ORPHA:3107)
Gene: DVL1
Phenotype: Sacral dimple (HP:0000960)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1 (OMIM:180700)
Gene: DVL1
Phenotype: Epicanthus (HP:0000286)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 (OMIM:616331)
Gene: DVL1
Phenotype: Epicanthus (HP:0000286)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1 (OMIM:180700)
Gene: DVL1
Phenotype: Epicanthus (HP:0000286)
Associated disease: Autosomal dominant Robinow syndrome (ORPHA:3107)
Gene: DVL1
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DVL1
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DVL1
Phenotype: Retrognathia (HP:0000278)
Associated disease: Autosomal dominant Robinow syndrome (ORPHA:3107)
Gene: DVL1
Phenotype: Retrognathia (HP:0000278)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1 (OMIM:180700)
Gene: DVL1
Phenotype: Alopecia (HP:0001596)
Associated disease: Autosomal dominant Robinow syndrome (ORPHA:3107)
Gene: DVL1
Phenotype: Wide anterior fontanel (HP:0000260)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1 (OMIM:180700)
Gene: DVL1
Phenotype: Macrocephaly (HP:0000256)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 (OMIM:616331)
Gene: DVL1
Phenotype: Macrocephaly (HP:0000256)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1 (OMIM:180700)
Gene: DVL1
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Autosomal dominant Robinow syndrome (ORPHA:3107)
Gene: DVL1
Phenotype: Malar flattening (HP:0000272)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1 (OMIM:180700)
Gene: DVL1
Phenotype: Coxa vara (HP:0002812)
Associated disease: Autosomal dominant Robinow syndrome (ORPHA:3107)
Gene: DVL1
Phenotype: Hip dislocation (HP:0002827)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 (OMIM:616331)
Gene: DVL1
Phenotype: Hip dislocation (HP:0002827)
Associated disease: Autosomal dominant Robinow syndrome (ORPHA:3107)
Gene: DVL1
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DVL1
Phenotype: Clinodactyly (HP:0030084)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 (OMIM:616331)
Gene: DVL1
Phenotype: Clinodactyly (HP:0030084)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1 (OMIM:180700)
Gene: DVL1
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DVL1
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 (OMIM:616331)
Gene: DVL1
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1 (OMIM:180700)
Gene: DVL1
Phenotype: High palate (HP:0000218)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 (OMIM:616331)
Gene: DVL1
Phenotype: High palate (HP:0000218)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1 (OMIM:180700)
Gene: DVL1
Phenotype: Gingival overgrowth (HP:0000212)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 (OMIM:616331)
Gene: DVL1
Phenotype: Gingival overgrowth (HP:0000212)
Associated disease: Autosomal dominant Robinow syndrome (ORPHA:3107)
Gene: DVL1
Phenotype: Gingival overgrowth (HP:0000212)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1 (OMIM:180700)
Gene: DVL1
Phenotype: Thick upper lip vermilion (HP:0000215)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 (OMIM:616331)
Gene: DVL1
Phenotype: Short lingual frenulum (HP:0000200)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1 (OMIM:180700)
Gene: DVL1
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DVL1
Phenotype: Obstructive sleep apnea (HP:0002870)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 (OMIM:616331)
Gene: DVL1
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 (OMIM:616331)
Gene: DVL1
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: Autosomal dominant Robinow syndrome (ORPHA:3107)
Gene: DVL1
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1 (OMIM:180700)
Gene: DVL1
Phenotype: Omphalocele (HP:0001539)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 (OMIM:616331)
Gene: DVL1
Phenotype: Triangular mouth (HP:0000207)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 (OMIM:616331)
Gene: DVL1
Phenotype: Triangular mouth (HP:0000207)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1 (OMIM:180700)
Gene: DVL1
Phenotype: Orofacial cleft (HP:0000202)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1 (OMIM:180700)
Gene: DVL1
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DVL1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DVL1
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DVL1
Phenotype: Supernumerary tooth (HP:0011069)
Associated disease: Autosomal dominant Robinow syndrome (ORPHA:3107)
Gene: DVL1
Phenotype: Camptodactyly (HP:0012385)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 (OMIM:616331)
Gene: DVL1
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DVL1
Phenotype: Flat face (HP:0012368)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1 (OMIM:180700)
Gene: DVL1
Phenotype: Hemivertebrae (HP:0002937)
Associated disease: Autosomal dominant Robinow syndrome (ORPHA:3107)
Gene: DVL1
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DVL1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 (OMIM:616331)
Gene: DVL1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DVL1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Autosomal dominant Robinow syndrome (ORPHA:3107)
Gene: DVL1
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1 (OMIM:180700)
Gene: DVL1
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: Autosomal dominant Robinow syndrome (ORPHA:3107)
Gene: DVL1
Phenotype: Low-set ears (HP:0000369)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 (OMIM:616331)
Gene: DVL1
Phenotype: Low-set ears (HP:0000369)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1 (OMIM:180700)
Gene: DVL1
Phenotype: Low-set ears (HP:0000369)
Associated disease: Autosomal dominant Robinow syndrome (ORPHA:3107)
Gene: DVL1
Phenotype: Long philtrum (HP:0000343)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 (OMIM:616331)
Gene: DVL1
Phenotype: Long philtrum (HP:0000343)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1 (OMIM:180700)
Gene: DVL1
Phenotype: Long philtrum (HP:0000343)
Associated disease: Autosomal dominant Robinow syndrome (ORPHA:3107)
Gene: DVL1
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DVL1
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DVL1
Phenotype: High forehead (HP:0000348)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 (OMIM:616331)
Gene: DVL1
Phenotype: Micrognathia (HP:0000347)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 (OMIM:616331)
Gene: DVL1
Phenotype: Micrognathia (HP:0000347)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1 (OMIM:180700)
Gene: DVL1
Phenotype: Micrognathia (HP:0000347)
Associated disease: Autosomal dominant Robinow syndrome (ORPHA:3107)
Gene: DVL1
Phenotype: Micromelia (HP:0002983)
Associated disease: Autosomal dominant Robinow syndrome (ORPHA:3107)
Gene: DVL1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 (OMIM:616331)
Gene: DVL1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1 (OMIM:180700)
Gene: DVL1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Autosomal dominant Robinow syndrome (ORPHA:3107)
Gene: DVL1
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DVL1
Phenotype: Short philtrum (HP:0000322)
Associated disease: Autosomal dominant Robinow syndrome (ORPHA:3107)
Gene: DVL1
Phenotype: Hypoplasia of the radius (HP:0002984)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 (OMIM:616331)
Gene: DVL1
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 (OMIM:616331)
Gene: DVL1
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DVL1
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DVL1
Phenotype: Capillary hemangioma (HP:0005306)
Associated disease: Autosomal dominant Robinow syndrome (ORPHA:3107)
Gene: DVL1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 (OMIM:616331)
Gene: DVL1
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 (OMIM:616331)
Gene: DVL1
Phenotype: Right ventricular outlet tract obstruction (HP:0001705)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1 (OMIM:180700)
Gene: DVL1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 (OMIM:616331)
Gene: DVL1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1 (OMIM:180700)
Gene: DVL1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Autosomal dominant Robinow syndrome (ORPHA:3107)
Gene: DVL1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DVL1
Phenotype: Strabismus (HP:0000486)
Associated disease: Autosomal dominant Robinow syndrome (ORPHA:3107)
Gene: DVL1
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1 (OMIM:180700)
Gene: DVL1
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Autosomal dominant Robinow syndrome (ORPHA:3107)
Gene: DVL1
Phenotype: Anteverted nares (HP:0000463)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 (OMIM:616331)
Gene: DVL1
Phenotype: Anteverted nares (HP:0000463)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1 (OMIM:180700)
Gene: DVL1
Phenotype: Anteverted nares (HP:0000463)
Associated disease: Autosomal dominant Robinow syndrome (ORPHA:3107)
Gene: DVL1
Phenotype: Short neck (HP:0000470)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 (OMIM:616331)
Gene: DVL1
Phenotype: Short neck (HP:0000470)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1 (OMIM:180700)
Gene: DVL1
Phenotype: Short neck (HP:0000470)
Associated disease: Autosomal dominant Robinow syndrome (ORPHA:3107)
Gene: DVL1
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DVL1
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DVL1
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DVL1
Phenotype: Wide nose (HP:0000445)
Associated disease: Autosomal dominant Robinow syndrome (ORPHA:3107)
Gene: DVL1
Phenotype: Mixed hearing impairment (HP:0000410)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 (OMIM:616331)
Gene: DVL1
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 (OMIM:616331)
Gene: DVL1
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1 (OMIM:180700)
Gene: DVL1
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: Autosomal dominant Robinow syndrome (ORPHA:3107)
Gene: DVL1
Phenotype: Calvarial osteosclerosis (HP:0005450)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 (OMIM:616331)
Gene: DVL1
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DVL1
Phenotype: Long eyelashes (HP:0000527)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 (OMIM:616331)
Gene: DVL1
Phenotype: Long eyelashes (HP:0000527)
Associated disease: Autosomal dominant Robinow syndrome (ORPHA:3107)
Gene: DVL1
Phenotype: Long eyelashes (HP:0000527)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1 (OMIM:180700)
Gene: DVL1
Phenotype: Proptosis (HP:0000520)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 (OMIM:616331)
Gene: DVL1
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DVL1
Phenotype: Proptosis (HP:0000520)
Associated disease: Autosomal dominant Robinow syndrome (ORPHA:3107)
Gene: DVL1
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)