TaoMedAI/RareMedData huggingface dataset:
Gene: CDC45
Phenotype: Mandibular aplasia (HP:0009939)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: CDC45
Phenotype: Anotia (HP:0009892)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: CDC45
Phenotype: Microtia (HP:0008551)
Associated disease: MEIER-GORLIN SYNDROME 7 (OMIM:617063)
Gene: CDC45
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDC45
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDC45
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC45
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: CDC45
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC45
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MEIER-GORLIN SYNDROME 7 (OMIM:617063)
Gene: CDC45
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: CDC45
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC45
Phenotype: Hypoplasia of penis (HP:0008736)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: CDC45
Phenotype: Duodenal stenosis (HP:0100867)
Associated disease: MEIER-GORLIN SYNDROME 7 (OMIM:617063)
Gene: CDC45
Phenotype: Clitoral hypertrophy (HP:0008665)
Associated disease: MEIER-GORLIN SYNDROME 7 (OMIM:617063)
Gene: CDC45
Phenotype: Clitoral hypertrophy (HP:0008665)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: CDC45
Phenotype: Clubbing (HP:0001217)
Associated disease: MEIER-GORLIN SYNDROME 7 (OMIM:617063)
Gene: CDC45
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDC45
Phenotype: Hypoplastic labia minora (HP:0000064)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: CDC45
Phenotype: Clitoral hypoplasia (HP:0000060)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: CDC45
Phenotype: Hypoplastic labia majora (HP:0000059)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: CDC45
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: MEIER-GORLIN SYNDROME 7 (OMIM:617063)
Gene: CDC45
Phenotype: Epispadias (HP:0000039)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: CDC45
Phenotype: Micropenis (HP:0000054)
Associated disease: MEIER-GORLIN SYNDROME 7 (OMIM:617063)
Gene: CDC45
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: MEIER-GORLIN SYNDROME 7 (OMIM:617063)
Gene: CDC45
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC45
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: CDC45
Phenotype: Hypospadias (HP:0000047)
Associated disease: MEIER-GORLIN SYNDROME 7 (OMIM:617063)
Gene: CDC45
Phenotype: Hypospadias (HP:0000047)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: CDC45
Phenotype: Craniosynostosis (HP:0001363)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: CDC45
Phenotype: Craniosynostosis (HP:0001363)
Associated disease: MEIER-GORLIN SYNDROME 7 (OMIM:617063)
Gene: CDC45
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDC45
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: MEIER-GORLIN SYNDROME 7 (OMIM:617063)
Gene: CDC45
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: CDC45
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC45
Phenotype: Specific learning disability (HP:0001328)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: CDC45
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC45
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDC45
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC45
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MEIER-GORLIN SYNDROME 7 (OMIM:617063)
Gene: CDC45
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC45
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDC45
Phenotype: Scoliosis (HP:0002650)
Associated disease: MEIER-GORLIN SYNDROME 7 (OMIM:617063)
Gene: CDC45
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDC45
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC45
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDC45
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC45
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC45
Phenotype: Bifid uvula (HP:0000193)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: CDC45
Phenotype: Narrow mouth (HP:0000160)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: CDC45
Phenotype: Narrow mouth (HP:0000160)
Associated disease: MEIER-GORLIN SYNDROME 7 (OMIM:617063)
Gene: CDC45
Phenotype: Submucous cleft hard palate (HP:0000176)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: CDC45
Phenotype: Cleft palate (HP:0000175)
Associated disease: MEIER-GORLIN SYNDROME 7 (OMIM:617063)
Gene: CDC45
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC45
Phenotype: Cleft palate (HP:0000175)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: CDC45
Phenotype: High, narrow palate (HP:0002705)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: CDC45
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: CDC45
Phenotype: Anal stenosis (HP:0002025)
Associated disease: MEIER-GORLIN SYNDROME 7 (OMIM:617063)
Gene: CDC45
Phenotype: Anal atresia (HP:0002023)
Associated disease: MEIER-GORLIN SYNDROME 7 (OMIM:617063)
Gene: CDC45
Phenotype: 2-3 toe syndactyly (HP:0004691)
Associated disease: MEIER-GORLIN SYNDROME 7 (OMIM:617063)
Gene: CDC45
Phenotype: Pulmonary hypoplasia (HP:0002089)
Associated disease: MEIER-GORLIN SYNDROME 7 (OMIM:617063)
Gene: CDC45
Phenotype: Respiratory distress (HP:0002098)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: CDC45
Phenotype: Dyspnea (HP:0002094)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: CDC45
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDC45
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC45
Phenotype: Second degree atrioventricular block (HP:0011706)
Associated disease: MEIER-GORLIN SYNDROME 7 (OMIM:617063)
Gene: CDC45
Phenotype: Abnormal epiphysis morphology (HP:0005930)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: CDC45
Phenotype: Vertebral segmentation defect (HP:0003422)
Associated disease: MEIER-GORLIN SYNDROME 7 (OMIM:617063)
Gene: CDC45
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: CDC45
Phenotype: Congenital onset (HP:0003577)
Associated disease: MEIER-GORLIN SYNDROME 7 (OMIM:617063)
Gene: CDC45
Phenotype: Breast aplasia (HP:0100783)
Associated disease: MEIER-GORLIN SYNDROME 7 (OMIM:617063)
Gene: CDC45
Phenotype: Breast aplasia (HP:0100783)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: CDC45
Phenotype: 2-4 finger cutaneous syndactyly (HP:0010709)
Associated disease: MEIER-GORLIN SYNDROME 7 (OMIM:617063)
Gene: CDC45
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: CDC45
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC45
Phenotype: Severe short stature (HP:0003510)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: CDC45
Phenotype: Chiari type I malformation (HP:0007099)
Associated disease: MEIER-GORLIN SYNDROME 7 (OMIM:617063)
Gene: CDC45
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDC45
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC45
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC45
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDC45
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDC45
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDC45
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: CDC45
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC45
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDC45
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDC45
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC45
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDC45
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC45
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC45
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDC45
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC45
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC45
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC45
Phenotype: Decreased body weight (HP:0004325)
Associated disease: MEIER-GORLIN SYNDROME 7 (OMIM:617063)
Gene: CDC45
Phenotype: Short stature (HP:0004322)
Associated disease: MEIER-GORLIN SYNDROME 7 (OMIM:617063)
Gene: CDC45
Phenotype: Dislocated radial head (HP:0003083)
Associated disease: MEIER-GORLIN SYNDROME 7 (OMIM:617063)
Gene: CDC45
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDC45
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDC45
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC45
Phenotype: Elbow dislocation (HP:0003042)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: CDC45
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC45
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC45
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC45
Phenotype: Abnormal rib morphology (HP:0000772)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: CDC45
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC45
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC45
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC45
Phenotype: Heart block (HP:0012722)
Associated disease: MEIER-GORLIN SYNDROME 7 (OMIM:617063)
Gene: CDC45
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC45
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC45
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC45
Phenotype: Sagittal craniosynostosis (HP:0004442)
Associated disease: MEIER-GORLIN SYNDROME 7 (OMIM:617063)
Gene: CDC45
Phenotype: Slender long bone (HP:0003100)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: CDC45
Phenotype: Copper beaten skull (HP:0034271)
Associated disease: MEIER-GORLIN SYNDROME 7 (OMIM:617063)
Gene: CDC45
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC45
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC45
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC45
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDC45
Phenotype: Meconium peritonitis (HP:0030717)
Associated disease: MEIER-GORLIN SYNDROME 7 (OMIM:617063)
Gene: CDC45
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDC45
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC45
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDC45
Phenotype: Thin eyebrow (HP:0045074)
Associated disease: MEIER-GORLIN SYNDROME 7 (OMIM:617063)
Gene: CDC45
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC45
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC45
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC45
Phenotype: Retrognathia (HP:0000278)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: CDC45
Phenotype: Wide anterior fontanel (HP:0000260)
Associated disease: MEIER-GORLIN SYNDROME 7 (OMIM:617063)
Gene: CDC45
Phenotype: Patellar aplasia (HP:0006443)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: CDC45
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC45
Phenotype: Urethral stricture (HP:0012227)
Associated disease: MEIER-GORLIN SYNDROME 7 (OMIM:617063)
Gene: CDC45
Phenotype: Progressive microcephaly (HP:0000253)
Associated disease: MEIER-GORLIN SYNDROME 7 (OMIM:617063)
Gene: CDC45
Phenotype: Microcephaly (HP:0000252)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: CDC45
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC45
Phenotype: Respiratory failure (HP:0002878)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: CDC45
Phenotype: High palate (HP:0000218)
Associated disease: MEIER-GORLIN SYNDROME 7 (OMIM:617063)
Gene: CDC45
Phenotype: Anteriorly placed anus (HP:0001545)
Associated disease: MEIER-GORLIN SYNDROME 7 (OMIM:617063)
Gene: CDC45
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDC45
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDC45
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: CDC45
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC45
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: CDC45
Phenotype: Growth delay (HP:0001510)
Associated disease: MEIER-GORLIN SYNDROME 7 (OMIM:617063)
Gene: CDC45
Phenotype: Growth delay (HP:0001510)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: CDC45
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDC45
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC45
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC45
Phenotype: Aplasia/Hypoplasia of the patella (HP:0006498)
Associated disease: MEIER-GORLIN SYNDROME 7 (OMIM:617063)
Gene: CDC45
Phenotype: Hearing impairment (HP:0000365)
Associated disease: MEIER-GORLIN SYNDROME 7 (OMIM:617063)
Gene: CDC45
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: CDC45
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDC45
Phenotype: Abnormality of the outer ear (HP:0000356)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: CDC45
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: CDC45
Phenotype: Low-set ears (HP:0000369)
Associated disease: MEIER-GORLIN SYNDROME 7 (OMIM:617063)
Gene: CDC45
Phenotype: Low-set ears (HP:0000369)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: CDC45
Phenotype: Complete atrioventricular canal defect (HP:0001674)
Associated disease: MEIER-GORLIN SYNDROME 7 (OMIM:617063)
Gene: CDC45
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC45
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDC45
Phenotype: Micrognathia (HP:0000347)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: CDC45
Phenotype: Bowing of the legs (HP:0002979)
Associated disease: MEIER-GORLIN SYNDROME 7 (OMIM:617063)
Gene: CDC45
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC45
Phenotype: Hypoplasia of the maxilla (HP:0000327)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: CDC45
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: MEIER-GORLIN SYNDROME 7 (OMIM:617063)
Gene: CDC45
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC45
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: MEIER-GORLIN SYNDROME 7 (OMIM:617063)
Gene: CDC45
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDC45
Phenotype: Aplastic clavicle (HP:0006660)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: CDC45
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: MEIER-GORLIN SYNDROME 7 (OMIM:617063)
Gene: CDC45
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC45
Phenotype: Strabismus (HP:0000486)
Associated disease: MEIER-GORLIN SYNDROME 7 (OMIM:617063)
Gene: CDC45
Phenotype: Thick vermilion border (HP:0012471)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: CDC45
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC45
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC45
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC45
Phenotype: Choanal atresia (HP:0000453)
Associated disease: MEIER-GORLIN SYNDROME 7 (OMIM:617063)
Gene: CDC45
Phenotype: Atresia of the external auditory canal (HP:0000413)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: CDC45
Phenotype: Microtia, third degree (HP:0011267)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: CDC45
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC45
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDC45
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC45
Phenotype: Proptosis (HP:0000520)
Associated disease: MEIER-GORLIN SYNDROME 7 (OMIM:617063)
Gene: CDC45
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC45
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC45
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDC45
Phenotype: Myopia (HP:0000545)
Associated disease: MEIER-GORLIN SYNDROME 7 (OMIM:617063)
Gene: EOMES
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: Microcephaly-polymicrogyria-corpus callosum agenesis syndrome (ORPHA:171703)
Gene: EOMES
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: Microcephaly-polymicrogyria-corpus callosum agenesis syndrome (ORPHA:171703)
Gene: EOMES
Phenotype: Recurrent infections (HP:0002719)
Associated disease: Microcephaly-polymicrogyria-corpus callosum agenesis syndrome (ORPHA:171703)
Gene: EOMES
Phenotype: Respiratory distress (HP:0002098)
Associated disease: Microcephaly-polymicrogyria-corpus callosum agenesis syndrome (ORPHA:171703)
Gene: EOMES
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Microcephaly-polymicrogyria-corpus callosum agenesis syndrome (ORPHA:171703)
Gene: EOMES
Phenotype: Polymicrogyria (HP:0002126)
Associated disease: Microcephaly-polymicrogyria-corpus callosum agenesis syndrome (ORPHA:171703)
Gene: EOMES
Phenotype: Primary microcephaly (HP:0011451)
Associated disease: Microcephaly-polymicrogyria-corpus callosum agenesis syndrome (ORPHA:171703)
Gene: FZD4
Phenotype: Retinal exudate (HP:0001147)
Associated disease: EXUDATIVE VITREORETINOPATHY 1 (OMIM:133780)
Gene: FZD4
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: FZD4
Phenotype: Severely reduced visual acuity (HP:0001141)
Associated disease: Familial exudative vitreoretinopathy; Criswick-Schepens syndrome; FEVR (ORPHA:891)
Gene: FZD4
Phenotype: Retinal arteriolar tortuosity (HP:0001136)
Associated disease: Retinopathy of prematurity; Retrolental fibroplasia; ROP (ORPHA:90050)