TaoMedAI/RareMedData huggingface dataset:
Gene: CDC6
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC6
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDC6
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDC6
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC6
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDC6
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC6
Phenotype: Mild global developmental delay (HP:0011342)
Associated disease: MEIER-GORLIN SYNDROME 5 (OMIM:613805)
Gene: CDC6
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC6
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDC6
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC6
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC6
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC6
Phenotype: Short stature (HP:0004322)
Associated disease: MEIER-GORLIN SYNDROME 5 (OMIM:613805)
Gene: CDC6
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDC6
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDC6
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC6
Phenotype: Elbow dislocation (HP:0003042)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: CDC6
Phenotype: Elbow dislocation (HP:0003042)
Associated disease: MEIER-GORLIN SYNDROME 5 (OMIM:613805)
Gene: CDC6
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC6
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC6
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC6
Phenotype: Abnormal rib morphology (HP:0000772)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: CDC6
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC6
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC6
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC6
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC6
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC6
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC6
Phenotype: Slender long bone (HP:0003100)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: CDC6
Phenotype: Slender long bone (HP:0003100)
Associated disease: MEIER-GORLIN SYNDROME 5 (OMIM:613805)
Gene: CDC6
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC6
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC6
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC6
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDC6
Phenotype: Hypoplasia of the capital femoral epiphysis (HP:0003090)
Associated disease: MEIER-GORLIN SYNDROME 5 (OMIM:613805)
Gene: CDC6
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDC6
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC6
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDC6
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC6
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC6
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC6
Phenotype: Retrognathia (HP:0000278)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: CDC6
Phenotype: Patellar aplasia (HP:0006443)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: CDC6
Phenotype: Patellar aplasia (HP:0006443)
Associated disease: MEIER-GORLIN SYNDROME 5 (OMIM:613805)
Gene: CDC6
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC6
Phenotype: Clinodactyly (HP:0030084)
Associated disease: MEIER-GORLIN SYNDROME 5 (OMIM:613805)
Gene: CDC6
Phenotype: Irregular femoral epiphysis (HP:0006361)
Associated disease: MEIER-GORLIN SYNDROME 5 (OMIM:613805)
Gene: CDC6
Phenotype: Microcephaly (HP:0000252)
Associated disease: MEIER-GORLIN SYNDROME 5 (OMIM:613805)
Gene: CDC6
Phenotype: Microcephaly (HP:0000252)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: CDC6
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC6
Phenotype: Respiratory failure (HP:0002878)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: CDC6
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDC6
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDC6
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: CDC6
Phenotype: Failure to thrive (HP:0001508)
Associated disease: MEIER-GORLIN SYNDROME 5 (OMIM:613805)
Gene: CDC6
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: MEIER-GORLIN SYNDROME 5 (OMIM:613805)
Gene: CDC6
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC6
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: CDC6
Phenotype: Growth delay (HP:0001510)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: CDC6
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDC6
Phenotype: Small earlobe (HP:0000385)
Associated disease: MEIER-GORLIN SYNDROME 5 (OMIM:613805)
Gene: CDC6
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC6
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC6
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: CDC6
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDC6
Phenotype: Abnormality of the outer ear (HP:0000356)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: CDC6
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: CDC6
Phenotype: Low-set ears (HP:0000369)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: CDC6
Phenotype: Low-set ears (HP:0000369)
Associated disease: MEIER-GORLIN SYNDROME 5 (OMIM:613805)
Gene: CDC6
Phenotype: Long philtrum (HP:0000343)
Associated disease: MEIER-GORLIN SYNDROME 5 (OMIM:613805)
Gene: CDC6
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC6
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDC6
Phenotype: Micrognathia (HP:0000347)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: CDC6
Phenotype: Micrognathia (HP:0000347)
Associated disease: MEIER-GORLIN SYNDROME 5 (OMIM:613805)
Gene: CDC6
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC6
Phenotype: Hypoplasia of the maxilla (HP:0000327)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: CDC6
Phenotype: Hypoplasia of the maxilla (HP:0000327)
Associated disease: MEIER-GORLIN SYNDROME 5 (OMIM:613805)
Gene: CDC6
Phenotype: Triangular face (HP:0000325)
Associated disease: MEIER-GORLIN SYNDROME 5 (OMIM:613805)
Gene: CDC6
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC6
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDC6
Phenotype: Aplastic clavicle (HP:0006660)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: CDC6
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC6
Phenotype: Thick vermilion border (HP:0012471)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: CDC6
Phenotype: Thick vermilion border (HP:0012471)
Associated disease: MEIER-GORLIN SYNDROME 5 (OMIM:613805)
Gene: CDC6
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC6
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC6
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC6
Phenotype: Atresia of the external auditory canal (HP:0000413)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: CDC6
Phenotype: Microtia, third degree (HP:0011267)
Associated disease: Meier-Gorlin syndrome; Ear-patella-short stature syndrome (ORPHA:2554)
Gene: CDC6
Phenotype: Prominent metopic ridge (HP:0005487)
Associated disease: MEIER-GORLIN SYNDROME 5 (OMIM:613805)
Gene: CDC6
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC6
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDC6
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC6
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC6
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC6
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDC20
Phenotype: Oocyte maturation arrest (HP:0034914)
Associated disease: OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 14 (OMIM:620276)
Gene: CDC20
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 14 (OMIM:620276)
Gene: CDC20
Phenotype: Female infertility (HP:0008222)
Associated disease: OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 14 (OMIM:620276)
Gene: CDC20
Phenotype: Young adult onset (HP:0011462)
Associated disease: OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 14 (OMIM:620276)
Gene: CDC42
Phenotype: Tapered finger (HP:0001182)
Associated disease: TAKENOUCHI-KOSAKI SYNDROME (OMIM:616737)
Gene: CDC42
Phenotype: Tapered finger (HP:0001182)
Associated disease: Takenouchi-Kosaki syndrome; Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome (ORPHA:487796)
Gene: CDC42
Phenotype: Poor speech (HP:0002465)
Associated disease: Takenouchi-Kosaki syndrome; Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome (ORPHA:487796)
Gene: CDC42
Phenotype: Nevus (HP:0003764)
Associated disease: Takenouchi-Kosaki syndrome; Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome (ORPHA:487796)
Gene: CDC42
Phenotype: Nevus (HP:0003764)
Associated disease: TAKENOUCHI-KOSAKI SYNDROME (OMIM:616737)
Gene: CDC42
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDC42
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDC42
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: TAKENOUCHI-KOSAKI SYNDROME (OMIM:616737)
Gene: CDC42
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: TAKENOUCHI-KOSAKI SYNDROME (OMIM:616737)
Gene: CDC42
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: Takenouchi-Kosaki syndrome; Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome (ORPHA:487796)
Gene: CDC42
Phenotype: Seizure (HP:0001250)
Associated disease: TAKENOUCHI-KOSAKI SYNDROME (OMIM:616737)
Gene: CDC42
Phenotype: Seizure (HP:0001250)
Associated disease: Takenouchi-Kosaki syndrome; Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome (ORPHA:487796)
Gene: CDC42
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC42
Phenotype: Ataxia (HP:0001251)
Associated disease: TAKENOUCHI-KOSAKI SYNDROME (OMIM:616737)
Gene: CDC42
Phenotype: Intellectual disability (HP:0001249)
Associated disease: TAKENOUCHI-KOSAKI SYNDROME (OMIM:616737)
Gene: CDC42
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Takenouchi-Kosaki syndrome; Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome (ORPHA:487796)
Gene: CDC42
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC42
Phenotype: Global developmental delay (HP:0001263)
Associated disease: TAKENOUCHI-KOSAKI SYNDROME (OMIM:616737)
Gene: CDC42
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Takenouchi-Kosaki syndrome; Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome (ORPHA:487796)
Gene: CDC42
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC42
Phenotype: Brain imaging abnormality (HP:0410263)
Associated disease: Takenouchi-Kosaki syndrome; Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome (ORPHA:487796)
Gene: CDC42
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: TAKENOUCHI-KOSAKI SYNDROME (OMIM:616737)
Gene: CDC42
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: Takenouchi-Kosaki syndrome; Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome (ORPHA:487796)
Gene: CDC42
Phenotype: Abnormal periventricular white matter morphology (HP:0002518)
Associated disease: Takenouchi-Kosaki syndrome; Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome (ORPHA:487796)
Gene: CDC42
Phenotype: Abnormal periventricular white matter morphology (HP:0002518)
Associated disease: TAKENOUCHI-KOSAKI SYNDROME (OMIM:616737)
Gene: CDC42
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDC42
Phenotype: Abnormal cerebral white matter morphology (HP:0002500)
Associated disease: TAKENOUCHI-KOSAKI SYNDROME (OMIM:616737)
Gene: CDC42
Phenotype: Flexion contracture (HP:0001371)
Associated disease: Takenouchi-Kosaki syndrome; Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome (ORPHA:487796)
Gene: CDC42
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC42
Phenotype: Hypospadias (HP:0000047)
Associated disease: TAKENOUCHI-KOSAKI SYNDROME (OMIM:616737)
Gene: CDC42
Phenotype: Hypospadias (HP:0000047)
Associated disease: Takenouchi-Kosaki syndrome; Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome (ORPHA:487796)
Gene: CDC42
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: TAKENOUCHI-KOSAKI SYNDROME (OMIM:616737)
Gene: CDC42
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: Takenouchi-Kosaki syndrome; Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome (ORPHA:487796)
Gene: CDC42
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDC42
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: TAKENOUCHI-KOSAKI SYNDROME (OMIM:616737)
Gene: CDC42
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC42
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: Takenouchi-Kosaki syndrome; Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome (ORPHA:487796)
Gene: CDC42
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC42
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDC42
Phenotype: Absent speech (HP:0001344)
Associated disease: TAKENOUCHI-KOSAKI SYNDROME (OMIM:616737)
Gene: CDC42
Phenotype: Absent speech (HP:0001344)
Associated disease: Takenouchi-Kosaki syndrome; Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome (ORPHA:487796)
Gene: CDC42
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC42
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC42
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: CDC42
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDC42
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: TAKENOUCHI-KOSAKI SYNDROME (OMIM:616737)
Gene: CDC42
Phenotype: Dandy-Walker malformation (HP:0001305)
Associated disease: Takenouchi-Kosaki syndrome; Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome (ORPHA:487796)
Gene: CDC42
Phenotype: Scoliosis (HP:0002650)
Associated disease: TAKENOUCHI-KOSAKI SYNDROME (OMIM:616737)
Gene: CDC42
Phenotype: Scoliosis (HP:0002650)
Associated disease: Takenouchi-Kosaki syndrome; Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome (ORPHA:487796)
Gene: CDC42
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDC42
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: TAKENOUCHI-KOSAKI SYNDROME (OMIM:616737)
Gene: CDC42
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC42
Phenotype: Varicose veins (HP:0002619)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: CDC42
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDC42
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC42
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC42
Phenotype: Cleft palate (HP:0000175)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: CDC42
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC42
Phenotype: Wide mouth (HP:0000154)
Associated disease: TAKENOUCHI-KOSAKI SYNDROME (OMIM:616737)
Gene: CDC42
Phenotype: Wide mouth (HP:0000154)
Associated disease: Takenouchi-Kosaki syndrome; Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome (ORPHA:487796)
Gene: CDC42
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: Takenouchi-Kosaki syndrome; Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome (ORPHA:487796)
Gene: CDC42
Phenotype: Eversion of lateral third of lower eyelids (HP:0007655)
Associated disease: Takenouchi-Kosaki syndrome; Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome (ORPHA:487796)
Gene: CDC42
Phenotype: Eversion of lateral third of lower eyelids (HP:0007655)
Associated disease: TAKENOUCHI-KOSAKI SYNDROME (OMIM:616737)
Gene: CDC42
Phenotype: Floppy infant (HP:0008947)
Associated disease: Takenouchi-Kosaki syndrome; Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome (ORPHA:487796)
Gene: CDC42
Phenotype: Unilateral renal agenesis (HP:0000122)
Associated disease: TAKENOUCHI-KOSAKI SYNDROME (OMIM:616737)
Gene: CDC42
Phenotype: Unilateral renal agenesis (HP:0000122)
Associated disease: Takenouchi-Kosaki syndrome; Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome (ORPHA:487796)
Gene: CDC42
Phenotype: Abnormality of the genitourinary system (HP:0000119)
Associated disease: Takenouchi-Kosaki syndrome; Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome (ORPHA:487796)
Gene: CDC42
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: TAKENOUCHI-KOSAKI SYNDROME (OMIM:616737)
Gene: CDC42
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: Takenouchi-Kosaki syndrome; Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome (ORPHA:487796)
Gene: CDC42
Phenotype: Recurrent infections (HP:0002719)
Associated disease: TAKENOUCHI-KOSAKI SYNDROME (OMIM:616737)
Gene: CDC42
Phenotype: Recurrent infections (HP:0002719)
Associated disease: Takenouchi-Kosaki syndrome; Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome (ORPHA:487796)
Gene: CDC42
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: TAKENOUCHI-KOSAKI SYNDROME (OMIM:616737)
Gene: CDC42
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: Takenouchi-Kosaki syndrome; Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome (ORPHA:487796)
Gene: CDC42
Phenotype: Immunodeficiency (HP:0002721)
Associated disease: TAKENOUCHI-KOSAKI SYNDROME (OMIM:616737)
Gene: CDC42
Phenotype: Immunodeficiency (HP:0002721)
Associated disease: Takenouchi-Kosaki syndrome; Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome (ORPHA:487796)
Gene: CDC42
Phenotype: Midface retrusion (HP:0011800)
Associated disease: TAKENOUCHI-KOSAKI SYNDROME (OMIM:616737)
Gene: CDC42
Phenotype: Midface retrusion (HP:0011800)
Associated disease: Takenouchi-Kosaki syndrome; Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome (ORPHA:487796)
Gene: CDC42
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: TAKENOUCHI-KOSAKI SYNDROME (OMIM:616737)
Gene: CDC42
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: Takenouchi-Kosaki syndrome; Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome (ORPHA:487796)
Gene: CDC42
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CDC42
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CDC42
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: TAKENOUCHI-KOSAKI SYNDROME (OMIM:616737)