TaoMedAI/RareMedData huggingface dataset:
Gene: WDR19
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CRANIOECTODERMAL DYSPLASIA 4 (OMIM:614378)
Gene: WDR19
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY (OMIM:614376)
Gene: WDR19
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEPHRONOPHTHISIS 13 (OMIM:614377)
Gene: WDR19
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPERMATOGENIC FAILURE 72 (OMIM:619867)
Gene: WDR19
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: WDR19
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: WDR19
Phenotype: Skeletal dysplasia (HP:0002652)
Associated disease: Jeune asphyxiating thoracic dystrophy; Asphyxiating thoracic dystrophy of the newborn; JATD; Jeune syndrome (ORPHA:474)
Gene: WDR19
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: WDR19
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: CRANIOECTODERMAL DYSPLASIA 4 (OMIM:614378)
Gene: WDR19
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: WDR19
Phenotype: Abnormal pelvic girdle bone morphology (HP:0002644)
Associated disease: Jeune asphyxiating thoracic dystrophy; Asphyxiating thoracic dystrophy of the newborn; JATD; Jeune syndrome (ORPHA:474)
Gene: WDR19
Phenotype: Vascular dilatation (HP:0002617)
Associated disease: SENIOR-LOKEN SYNDROME 8 (OMIM:616307)
Gene: WDR19
Phenotype: Congenital hepatic fibrosis (HP:0002612)
Associated disease: Renal dysplasia-retinal aplasia syndrome; Senior-Loken syndrome; SLSN; Nephronophthisis with retinal dystrophy (ORPHA:3156)
Gene: WDR19
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: WDR19
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: WDR19
Phenotype: Rhizomelia (HP:0008905)
Associated disease: CED; Sensenbrenner syndrome; Cranioectodermal dysplasia (ORPHA:1515)
Gene: WDR19
Phenotype: Rhizomelia (HP:0008905)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY (OMIM:614376)
Gene: WDR19
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: WDR19
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: CED; Sensenbrenner syndrome; Cranioectodermal dysplasia (ORPHA:1515)
Gene: WDR19
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: WDR19
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: WDR19
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: WDR19
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: SENIOR-LOKEN SYNDROME 8 (OMIM:616307)
Gene: WDR19
Phenotype: Multilamellation of medullary peritubular capillary basement membranes (HP:0033867)
Associated disease: NEPHRONOPHTHISIS 13 (OMIM:614377)
Gene: WDR19
Phenotype: Nephropathy (HP:0000112)
Associated disease: Jeune asphyxiating thoracic dystrophy; Asphyxiating thoracic dystrophy of the newborn; JATD; Jeune syndrome (ORPHA:474)
Gene: WDR19
Phenotype: Absent sperm flagella (HP:0032558)
Associated disease: SPERMATOGENIC FAILURE 72 (OMIM:619867)
Gene: WDR19
Phenotype: Short sperm flagella (HP:0032559)
Associated disease: SPERMATOGENIC FAILURE 72 (OMIM:619867)
Gene: WDR19
Phenotype: Coiled sperm flagella (HP:0032560)
Associated disease: SPERMATOGENIC FAILURE 72 (OMIM:619867)
Gene: WDR19
Phenotype: Hepatic cysts (HP:0001407)
Associated disease: SENIOR-LOKEN SYNDROME 8 (OMIM:616307)
Gene: WDR19
Phenotype: Hepatic cysts (HP:0001407)
Associated disease: NEPHRONOPHTHISIS 13 (OMIM:614377)
Gene: WDR19
Phenotype: Frontal bossing (HP:0002007)
Associated disease: CED; Sensenbrenner syndrome; Cranioectodermal dysplasia (ORPHA:1515)
Gene: WDR19
Phenotype: Frontal bossing (HP:0002007)
Associated disease: CRANIOECTODERMAL DYSPLASIA 4 (OMIM:614378)
Gene: WDR19
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: Jeune asphyxiating thoracic dystrophy; Asphyxiating thoracic dystrophy of the newborn; JATD; Jeune syndrome (ORPHA:474)
Gene: WDR19
Phenotype: Restrictive ventilatory defect (HP:0002091)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY (OMIM:614376)
Gene: WDR19
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: WDR19
Phenotype: Polydactyly (HP:0010442)
Associated disease: SENIOR-LOKEN SYNDROME 8 (OMIM:616307)
Gene: WDR19
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: WDR19
Phenotype: Intrahepatic bile duct dilatation (HP:0033149)
Associated disease: NEPHRONOPHTHISIS 13 (OMIM:614377)
Gene: WDR19
Phenotype: Intrahepatic bile duct dilatation (HP:0033149)
Associated disease: SENIOR-LOKEN SYNDROME 8 (OMIM:616307)
Gene: WDR19
Phenotype: Acetabular spurs (HP:0010454)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY (OMIM:614376)
Gene: WDR19
Phenotype: Chronic tubulointerstitial nephritis (HP:0004743)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY (OMIM:614376)
Gene: WDR19
Phenotype: Global glomerulosclerosis (HP:0004737)
Associated disease: NEPHRONOPHTHISIS 13 (OMIM:614377)
Gene: WDR19
Phenotype: Global glomerulosclerosis (HP:0004737)
Associated disease: SENIOR-LOKEN SYNDROME 8 (OMIM:616307)
Gene: WDR19
Phenotype: Cutaneous finger syndactyly (HP:0010554)
Associated disease: CRANIOECTODERMAL DYSPLASIA 4 (OMIM:614378)
Gene: WDR19
Phenotype: Premature ovarian insufficiency (HP:0008209)
Associated disease: Renal dysplasia-retinal aplasia syndrome; Senior-Loken syndrome; SLSN; Nephronophthisis with retinal dystrophy (ORPHA:3156)
Gene: WDR19
Phenotype: Cone-shaped epiphysis (HP:0010579)
Associated disease: Jeune asphyxiating thoracic dystrophy; Asphyxiating thoracic dystrophy of the newborn; JATD; Jeune syndrome (ORPHA:474)
Gene: WDR19
Phenotype: Cone-shaped epiphysis (HP:0010579)
Associated disease: Renal dysplasia-retinal aplasia syndrome; Senior-Loken syndrome; SLSN; Nephronophthisis with retinal dystrophy (ORPHA:3156)
Gene: WDR19
Phenotype: Congenital onset (HP:0003577)
Associated disease: CRANIOECTODERMAL DYSPLASIA 4 (OMIM:614378)
Gene: WDR19
Phenotype: Congenital onset (HP:0003577)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY (OMIM:614376)
Gene: WDR19
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY (OMIM:614376)
Gene: WDR19
Phenotype: Irregularly shaped sperm tail (HP:0033393)
Associated disease: SPERMATOGENIC FAILURE 72 (OMIM:619867)
Gene: WDR19
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: WDR19
Phenotype: Abnormal toenail morphology (HP:0008388)
Associated disease: CED; Sensenbrenner syndrome; Cranioectodermal dysplasia (ORPHA:1515)
Gene: WDR19
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: WDR19
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: WDR19
Phenotype: Broad distal phalanx of finger (HP:0009836)
Associated disease: CRANIOECTODERMAL DYSPLASIA 4 (OMIM:614378)
Gene: WDR19
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: WDR19
Phenotype: High hypermetropia (HP:0008499)
Associated disease: CED; Sensenbrenner syndrome; Cranioectodermal dysplasia (ORPHA:1515)
Gene: WDR19
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: WDR19
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: WDR19
Phenotype: Juvenile onset (HP:0003621)
Associated disease: SENIOR-LOKEN SYNDROME 8 (OMIM:616307)
Gene: WDR19
Phenotype: Juvenile onset (HP:0003621)
Associated disease: NEPHRONOPHTHISIS 13 (OMIM:614377)
Gene: WDR19
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: WDR19
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: WDR19
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CRANIOECTODERMAL DYSPLASIA 4 (OMIM:614378)
Gene: WDR19
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: CED; Sensenbrenner syndrome; Cranioectodermal dysplasia (ORPHA:1515)
Gene: WDR19
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: WDR19
Phenotype: Chronic kidney disease (HP:0012622)
Associated disease: Renal dysplasia-retinal aplasia syndrome; Senior-Loken syndrome; SLSN; Nephronophthisis with retinal dystrophy (ORPHA:3156)
Gene: WDR19
Phenotype: Nystagmus (HP:0000639)
Associated disease: CED; Sensenbrenner syndrome; Cranioectodermal dysplasia (ORPHA:1515)
Gene: WDR19
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: WDR19
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: WDR19
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: WDR19
Phenotype: Hypotelorism (HP:0000601)
Associated disease: CED; Sensenbrenner syndrome; Cranioectodermal dysplasia (ORPHA:1515)
Gene: WDR19
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: WDR19
Phenotype: Subdural hygroma (HP:6001070)
Associated disease: CRANIOECTODERMAL DYSPLASIA 4 (OMIM:614378)
Gene: WDR19
Phenotype: Reduced progressive sperm motility (HP:0034011)
Associated disease: SPERMATOGENIC FAILURE 72 (OMIM:619867)
Gene: WDR19
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: WDR19
Phenotype: Abnormal dental enamel morphology (HP:0000682)
Associated disease: CED; Sensenbrenner syndrome; Cranioectodermal dysplasia (ORPHA:1515)
Gene: WDR19
Phenotype: Taurodontia (HP:0000679)
Associated disease: CRANIOECTODERMAL DYSPLASIA 4 (OMIM:614378)
Gene: WDR19
Phenotype: Taurodontia (HP:0000679)
Associated disease: CED; Sensenbrenner syndrome; Cranioectodermal dysplasia (ORPHA:1515)
Gene: WDR19
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: WDR19
Phenotype: Microdontia (HP:0000691)
Associated disease: CED; Sensenbrenner syndrome; Cranioectodermal dysplasia (ORPHA:1515)
Gene: WDR19
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: WDR19
Phenotype: Nyctalopia (HP:0000662)
Associated disease: CRANIOECTODERMAL DYSPLASIA 4 (OMIM:614378)
Gene: WDR19
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: WDR19
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: WDR19
Phenotype: Hypodontia (HP:0000668)
Associated disease: CED; Sensenbrenner syndrome; Cranioectodermal dysplasia (ORPHA:1515)
Gene: WDR19
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: WDR19
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: WDR19
Phenotype: Short stature (HP:0004322)
Associated disease: Renal dysplasia-retinal aplasia syndrome; Senior-Loken syndrome; SLSN; Nephronophthisis with retinal dystrophy (ORPHA:3156)
Gene: WDR19
Phenotype: Short stature (HP:0004322)
Associated disease: CRANIOECTODERMAL DYSPLASIA 4 (OMIM:614378)
Gene: WDR19
Phenotype: Short stature (HP:0004322)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY (OMIM:614376)
Gene: WDR19
Phenotype: Short stature (HP:0004322)
Associated disease: Jeune asphyxiating thoracic dystrophy; Asphyxiating thoracic dystrophy of the newborn; JATD; Jeune syndrome (ORPHA:474)
Gene: WDR19
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: WDR19
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: WDR19
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: WDR19
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: WDR19
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY (OMIM:614376)
Gene: WDR19
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: WDR19
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: WDR19
Phenotype: Abnormality of bone mineral density (HP:0004348)
Associated disease: Renal dysplasia-retinal aplasia syndrome; Senior-Loken syndrome; SLSN; Nephronophthisis with retinal dystrophy (ORPHA:3156)
Gene: WDR19
Phenotype: Abnormal rib morphology (HP:0000772)
Associated disease: Jeune asphyxiating thoracic dystrophy; Asphyxiating thoracic dystrophy of the newborn; JATD; Jeune syndrome (ORPHA:474)
Gene: WDR19
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: CED; Sensenbrenner syndrome; Cranioectodermal dysplasia (ORPHA:1515)
Gene: WDR19
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: WDR19
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: CRANIOECTODERMAL DYSPLASIA 4 (OMIM:614378)
Gene: WDR19
Phenotype: Abnormal sternum morphology (HP:0000766)
Associated disease: Jeune asphyxiating thoracic dystrophy; Asphyxiating thoracic dystrophy of the newborn; JATD; Jeune syndrome (ORPHA:474)
Gene: WDR19
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: WDR19
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: WDR19
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: WDR19
Phenotype: Broad phalanx of the toes (HP:0010174)
Associated disease: CRANIOECTODERMAL DYSPLASIA 4 (OMIM:614378)
Gene: WDR19
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: WDR19
Phenotype: Childhood onset (HP:0011463)
Associated disease: SENIOR-LOKEN SYNDROME 8 (OMIM:616307)
Gene: WDR19
Phenotype: Childhood onset (HP:0011463)
Associated disease: NEPHRONOPHTHISIS 13 (OMIM:614377)
Gene: WDR19
Phenotype: Young adult onset (HP:0011462)
Associated disease: SPERMATOGENIC FAILURE 72 (OMIM:619867)
Gene: WDR19
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: WDR19
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: WDR19
Phenotype: Fetal onset (HP:0011461)
Associated disease: NEPHRONOPHTHISIS 13 (OMIM:614377)
Gene: WDR19
Phenotype: Narrow chest (HP:0000774)
Associated disease: CED; Sensenbrenner syndrome; Cranioectodermal dysplasia (ORPHA:1515)
Gene: WDR19
Phenotype: Narrow chest (HP:0000774)
Associated disease: Jeune asphyxiating thoracic dystrophy; Asphyxiating thoracic dystrophy of the newborn; JATD; Jeune syndrome (ORPHA:474)
Gene: WDR19
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: WDR19
Phenotype: Narrow chest (HP:0000774)
Associated disease: CRANIOECTODERMAL DYSPLASIA 4 (OMIM:614378)
Gene: WDR19
Phenotype: Narrow chest (HP:0000774)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY (OMIM:614376)
Gene: WDR19
Phenotype: Sagittal craniosynostosis (HP:0004442)
Associated disease: CRANIOECTODERMAL DYSPLASIA 4 (OMIM:614378)
Gene: WDR19
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: WDR19
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: WDR19
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: WDR19
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: WDR19
Phenotype: Abnormal clavicle morphology (HP:0000889)
Associated disease: Jeune asphyxiating thoracic dystrophy; Asphyxiating thoracic dystrophy of the newborn; JATD; Jeune syndrome (ORPHA:474)
Gene: WDR19
Phenotype: Hypertension (HP:0000822)
Associated disease: Renal dysplasia-retinal aplasia syndrome; Senior-Loken syndrome; SLSN; Nephronophthisis with retinal dystrophy (ORPHA:3156)
Gene: WDR19
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: WDR19
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: WDR19
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: WDR19
Phenotype: Male infertility (HP:0003251)
Associated disease: SPERMATOGENIC FAILURE 72 (OMIM:619867)
Gene: WDR19
Phenotype: Elevated circulating creatinine concentration (HP:0003259)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY (OMIM:614376)
Gene: WDR19
Phenotype: Pallor (HP:0000980)
Associated disease: SENIOR-LOKEN SYNDROME 8 (OMIM:616307)
Gene: WDR19
Phenotype: Short thorax (HP:0010306)
Associated disease: Jeune asphyxiating thoracic dystrophy; Asphyxiating thoracic dystrophy of the newborn; JATD; Jeune syndrome (ORPHA:474)
Gene: WDR19
Phenotype: Cutis laxa (HP:0000973)
Associated disease: CRANIOECTODERMAL DYSPLASIA 4 (OMIM:614378)
Gene: WDR19
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: WDR19
Phenotype: Osteoporosis (HP:0000939)
Associated disease: CED; Sensenbrenner syndrome; Cranioectodermal dysplasia (ORPHA:1515)
Gene: WDR19
Phenotype: Decreased nasal nitric oxide (HP:0033036)
Associated disease: CRANIOECTODERMAL DYSPLASIA 4 (OMIM:614378)
Gene: WDR19
Phenotype: Abnormal metaphysis morphology (HP:0000944)
Associated disease: Jeune asphyxiating thoracic dystrophy; Asphyxiating thoracic dystrophy of the newborn; JATD; Jeune syndrome (ORPHA:474)
Gene: WDR19
Phenotype: Abnormal metaphysis morphology (HP:0000944)
Associated disease: CED; Sensenbrenner syndrome; Cranioectodermal dysplasia (ORPHA:1515)
Gene: WDR19
Phenotype: Abnormal diaphysis morphology (HP:0000940)
Associated disease: CED; Sensenbrenner syndrome; Cranioectodermal dysplasia (ORPHA:1515)
Gene: WDR19
Phenotype: Pes valgus (HP:0008081)
Associated disease: CRANIOECTODERMAL DYSPLASIA 4 (OMIM:614378)
Gene: WDR19
Phenotype: Pes valgus (HP:0008081)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY (OMIM:614376)
Gene: WDR19
Phenotype: Sparse hair (HP:0008070)
Associated disease: CED; Sensenbrenner syndrome; Cranioectodermal dysplasia (ORPHA:1515)
Gene: WDR19
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Jeune asphyxiating thoracic dystrophy; Asphyxiating thoracic dystrophy of the newborn; JATD; Jeune syndrome (ORPHA:474)
Gene: WDR19
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Renal dysplasia-retinal aplasia syndrome; Senior-Loken syndrome; SLSN; Nephronophthisis with retinal dystrophy (ORPHA:3156)
Gene: WDR19
Phenotype: Epicanthus (HP:0000286)
Associated disease: CRANIOECTODERMAL DYSPLASIA 4 (OMIM:614378)
Gene: WDR19
Phenotype: Epicanthus (HP:0000286)
Associated disease: CED; Sensenbrenner syndrome; Cranioectodermal dysplasia (ORPHA:1515)
Gene: WDR19
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: WDR19
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: WDR19
Phenotype: Full cheeks (HP:0000293)
Associated disease: CRANIOECTODERMAL DYSPLASIA 4 (OMIM:614378)
Gene: WDR19
Phenotype: Full cheeks (HP:0000293)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY (OMIM:614376)
Gene: WDR19
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: CED; Sensenbrenner syndrome; Cranioectodermal dysplasia (ORPHA:1515)
Gene: WDR19
Phenotype: Prominent occiput (HP:0000269)
Associated disease: CED; Sensenbrenner syndrome; Cranioectodermal dysplasia (ORPHA:1515)
Gene: WDR19
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: WDR19
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: WDR19
Phenotype: Broad long bone diaphyses (HP:0006371)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY (OMIM:614376)
Gene: WDR19
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: WDR19
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY (OMIM:614376)
Gene: WDR19
Phenotype: Thin vermilion border (HP:0000233)
Associated disease: CRANIOECTODERMAL DYSPLASIA 4 (OMIM:614378)
Gene: WDR19
Phenotype: Everted lower lip vermilion (HP:0000232)
Associated disease: CED; Sensenbrenner syndrome; Cranioectodermal dysplasia (ORPHA:1515)
Gene: WDR19
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: WDR19
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: WDR19
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: WDR19
Phenotype: Growth delay (HP:0001510)
Associated disease: NEPHRONOPHTHISIS 13 (OMIM:614377)
Gene: WDR19
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: WDR19
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY (OMIM:614376)
Gene: WDR19
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: WDR19
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: WDR19
Phenotype: Recurrent pneumonia (HP:0006532)
Associated disease: CRANIOECTODERMAL DYSPLASIA 4 (OMIM:614378)
Gene: WDR19
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: WDR19
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: WDR19
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: WDR19
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: WDR19
Phenotype: Micromelia (HP:0002983)
Associated disease: Jeune asphyxiating thoracic dystrophy; Asphyxiating thoracic dystrophy of the newborn; JATD; Jeune syndrome (ORPHA:474)
Gene: WDR19
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: CRANIOECTODERMAL DYSPLASIA 4 (OMIM:614378)
Gene: WDR19
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: WDR19
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: WDR19
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: WDR19
Phenotype: Renal interstitial fibrosis (HP:0032948)
Associated disease: NEPHRONOPHTHISIS 13 (OMIM:614377)
Gene: WDR19
Phenotype: Thoracic dysplasia (HP:0006644)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY (OMIM:614376)
Gene: WDR19
Phenotype: Pancreatic cysts (HP:0001737)
Associated disease: NEPHRONOPHTHISIS 13 (OMIM:614377)
Gene: WDR19
Phenotype: Pancreatic cysts (HP:0001737)
Associated disease: SENIOR-LOKEN SYNDROME 8 (OMIM:616307)