TaoMedAI/RareMedData huggingface dataset:
Gene: SLC4A11
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: Late hereditary endothelial dystrophy; Endoepithelial corneal dystrophy; FECD; Fuchs endothelial corneal dystrophy (ORPHA:98974)
Gene: SLC4A11
Phenotype: Nystagmus (HP:0000639)
Associated disease: CHEDII; Congenital hereditary endothelial dystrophy type 2; Infantile hereditary endothelial dystrophy; CHED2; Congenital hereditary endothelial dystrophy type II; Autosomal recessive CHED; Maumenee corneal dystrophy; Autosomal recessive congenital hereditary endothelial dystrophy (ORPHA:293603)
Gene: SLC4A11
Phenotype: Nystagmus (HP:0000639)
Associated disease: Corneal dystrophy-perceptive hearing loss syndrome; CDPD; Corneal dystrophy-perceptive deafness syndrome; Corneal dystrophy with progressive hearing loss; Harboyan syndrome; Corneal dystrophy with progressive deafness (ORPHA:1490)
Gene: SLC4A11
Phenotype: Blurred vision (HP:0000622)
Associated disease: CHEDII; Congenital hereditary endothelial dystrophy type 2; Infantile hereditary endothelial dystrophy; CHED2; Congenital hereditary endothelial dystrophy type II; Autosomal recessive CHED; Maumenee corneal dystrophy; Autosomal recessive congenital hereditary endothelial dystrophy (ORPHA:293603)
Gene: SLC4A11
Phenotype: Irregular astigmatism (HP:0031792)
Associated disease: CHEDII; Congenital hereditary endothelial dystrophy type 2; Infantile hereditary endothelial dystrophy; CHED2; Congenital hereditary endothelial dystrophy type II; Autosomal recessive CHED; Maumenee corneal dystrophy; Autosomal recessive congenital hereditary endothelial dystrophy (ORPHA:293603)
Gene: SLC4A11
Phenotype: Nyctalopia (HP:0000662)
Associated disease: Late hereditary endothelial dystrophy; Endoepithelial corneal dystrophy; FECD; Fuchs endothelial corneal dystrophy (ORPHA:98974)
Gene: SLC4A11
Phenotype: Abnormal corneal endothelium morphology (HP:0011488)
Associated disease: Late hereditary endothelial dystrophy; Endoepithelial corneal dystrophy; FECD; Fuchs endothelial corneal dystrophy (ORPHA:98974)
Gene: SLC4A11
Phenotype: Increased corneal thickness (HP:0011487)
Associated disease: CORNEAL ENDOTHELIAL DYSTROPHY (OMIM:217700)
Gene: SLC4A11
Phenotype: Increased corneal thickness (HP:0011487)
Associated disease: CHEDII; Congenital hereditary endothelial dystrophy type 2; Infantile hereditary endothelial dystrophy; CHED2; Congenital hereditary endothelial dystrophy type II; Autosomal recessive CHED; Maumenee corneal dystrophy; Autosomal recessive congenital hereditary endothelial dystrophy (ORPHA:293603)
Gene: SLC4A11
Phenotype: Reduced number of corneal endothelial cells (HP:0011491)
Associated disease: Late hereditary endothelial dystrophy; Endoepithelial corneal dystrophy; FECD; Fuchs endothelial corneal dystrophy (ORPHA:98974)
Gene: SLC4A11
Phenotype: Abnormal Descemet membrane morphology (HP:0011490)
Associated disease: CORNEAL ENDOTHELIAL DYSTROPHY (OMIM:217700)
Gene: SLC4A11
Phenotype: Abnormal Descemet membrane morphology (HP:0011490)
Associated disease: CHEDII; Congenital hereditary endothelial dystrophy type 2; Infantile hereditary endothelial dystrophy; CHED2; Congenital hereditary endothelial dystrophy type II; Autosomal recessive CHED; Maumenee corneal dystrophy; Autosomal recessive congenital hereditary endothelial dystrophy (ORPHA:293603)
Gene: SLC4A11
Phenotype: Abnormal Descemet membrane morphology (HP:0011490)
Associated disease: Late hereditary endothelial dystrophy; Endoepithelial corneal dystrophy; FECD; Fuchs endothelial corneal dystrophy (ORPHA:98974)
Gene: SLC4A11
Phenotype: Young adult onset (HP:0011462)
Associated disease: CORNEAL DYSTROPHY AND PERCEPTIVE DEAFNESS (OMIM:217400)
Gene: SLC4A11
Phenotype: Eye movement-induced pain (HP:0030857)
Associated disease: Late hereditary endothelial dystrophy; Endoepithelial corneal dystrophy; FECD; Fuchs endothelial corneal dystrophy (ORPHA:98974)
Gene: SLC4A11
Phenotype: Edema (HP:0000969)
Associated disease: Late hereditary endothelial dystrophy; Endoepithelial corneal dystrophy; FECD; Fuchs endothelial corneal dystrophy (ORPHA:98974)
Gene: SLC4A11
Phenotype: Opacification of the corneal stroma (HP:0007759)
Associated disease: CORNEAL ENDOTHELIAL DYSTROPHY (OMIM:217700)
Gene: SLC4A11
Phenotype: Opacification of the corneal stroma (HP:0007759)
Associated disease: CORNEAL DYSTROPHY AND PERCEPTIVE DEAFNESS (OMIM:217400)
Gene: SLC4A11
Phenotype: Corneal opacity (HP:0007957)
Associated disease: CHEDII; Congenital hereditary endothelial dystrophy type 2; Infantile hereditary endothelial dystrophy; CHED2; Congenital hereditary endothelial dystrophy type II; Autosomal recessive CHED; Maumenee corneal dystrophy; Autosomal recessive congenital hereditary endothelial dystrophy (ORPHA:293603)
Gene: SLC4A11
Phenotype: Corneal opacity (HP:0007957)
Associated disease: Corneal dystrophy-perceptive hearing loss syndrome; CDPD; Corneal dystrophy-perceptive deafness syndrome; Corneal dystrophy with progressive hearing loss; Harboyan syndrome; Corneal dystrophy with progressive deafness (ORPHA:1490)
Gene: SLC4A11
Phenotype: Corneal opacity (HP:0007957)
Associated disease: Late hereditary endothelial dystrophy; Endoepithelial corneal dystrophy; FECD; Fuchs endothelial corneal dystrophy (ORPHA:98974)
Gene: SLC4A11
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: CHEDII; Congenital hereditary endothelial dystrophy type 2; Infantile hereditary endothelial dystrophy; CHED2; Congenital hereditary endothelial dystrophy type II; Autosomal recessive CHED; Maumenee corneal dystrophy; Autosomal recessive congenital hereditary endothelial dystrophy (ORPHA:293603)
Gene: SLC4A11
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Corneal dystrophy-perceptive hearing loss syndrome; CDPD; Corneal dystrophy-perceptive deafness syndrome; Corneal dystrophy with progressive hearing loss; Harboyan syndrome; Corneal dystrophy with progressive deafness (ORPHA:1490)
Gene: SLC4A11
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: CORNEAL DYSTROPHY AND PERCEPTIVE DEAFNESS (OMIM:217400)
Gene: SLC4A11
Phenotype: Visual impairment (HP:0000505)
Associated disease: Corneal dystrophy-perceptive hearing loss syndrome; CDPD; Corneal dystrophy-perceptive deafness syndrome; Corneal dystrophy with progressive hearing loss; Harboyan syndrome; Corneal dystrophy with progressive deafness (ORPHA:1490)
Gene: SLC4A11
Phenotype: Visual impairment (HP:0000505)
Associated disease: CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 4 (OMIM:613268)
Gene: SLC4A11
Phenotype: Visual loss (HP:0000572)
Associated disease: Late hereditary endothelial dystrophy; Endoepithelial corneal dystrophy; FECD; Fuchs endothelial corneal dystrophy (ORPHA:98974)
Gene: CCDC8
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CCDC8
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CCDC8
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CCDC8
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CCDC8
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CCDC8
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CCDC8
Phenotype: Congenital hip dislocation (HP:0001374)
Associated disease: 3M syndrome; 3-M syndrome; Yakut short stature syndrome (ORPHA:2616)
Gene: CCDC8
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: THREE M SYNDROME 3 (OMIM:614205)
Gene: CCDC8
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: 3M syndrome; 3-M syndrome; Yakut short stature syndrome (ORPHA:2616)
Gene: CCDC8
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CCDC8
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: THREE M SYNDROME 3 (OMIM:614205)
Gene: CCDC8
Phenotype: Hypospadias (HP:0000047)
Associated disease: 3M syndrome; 3-M syndrome; Yakut short stature syndrome (ORPHA:2616)
Gene: CCDC8
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CCDC8
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CCDC8
Phenotype: Hypoplastic pelvis (HP:0008839)
Associated disease: 3M syndrome; 3-M syndrome; Yakut short stature syndrome (ORPHA:2616)
Gene: CCDC8
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CCDC8
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CCDC8
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CCDC8
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CCDC8
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: THREE M SYNDROME 3 (OMIM:614205)
Gene: CCDC8
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CCDC8
Phenotype: Scoliosis (HP:0002650)
Associated disease: 3M syndrome; 3-M syndrome; Yakut short stature syndrome (ORPHA:2616)
Gene: CCDC8
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CCDC8
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CCDC8
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CCDC8
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CCDC8
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CCDC8
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CCDC8
Phenotype: Decreased fertility (HP:0000144)
Associated disease: 3M syndrome; 3-M syndrome; Yakut short stature syndrome (ORPHA:2616)
Gene: CCDC8
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: 3M syndrome; 3-M syndrome; Yakut short stature syndrome (ORPHA:2616)
Gene: CCDC8
Phenotype: Frontal bossing (HP:0002007)
Associated disease: 3M syndrome; 3-M syndrome; Yakut short stature syndrome (ORPHA:2616)
Gene: CCDC8
Phenotype: Frontal bossing (HP:0002007)
Associated disease: THREE M SYNDROME 3 (OMIM:614205)
Gene: CCDC8
Phenotype: Hyperlordosis (HP:0003307)
Associated disease: 3M syndrome; 3-M syndrome; Yakut short stature syndrome (ORPHA:2616)
Gene: CCDC8
Phenotype: Hyperlordosis (HP:0003307)
Associated disease: THREE M SYNDROME 3 (OMIM:614205)
Gene: CCDC8
Phenotype: Midface retrusion (HP:0011800)
Associated disease: 3M syndrome; 3-M syndrome; Yakut short stature syndrome (ORPHA:2616)
Gene: CCDC8
Phenotype: Midface retrusion (HP:0011800)
Associated disease: THREE M SYNDROME 3 (OMIM:614205)
Gene: CCDC8
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CCDC8
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CCDC8
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CCDC8
Phenotype: Scapular winging (HP:0003691)
Associated disease: 3M syndrome; 3-M syndrome; Yakut short stature syndrome (ORPHA:2616)
Gene: CCDC8
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CCDC8
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CCDC8
Phenotype: Abnormal cerebral vascular morphology (HP:0100659)
Associated disease: 3M syndrome; 3-M syndrome; Yakut short stature syndrome (ORPHA:2616)
Gene: CCDC8
Phenotype: Abnormality of the elbow (HP:0009811)
Associated disease: 3M syndrome; 3-M syndrome; Yakut short stature syndrome (ORPHA:2616)
Gene: CCDC8
Phenotype: Enlarged thorax (HP:0100625)
Associated disease: 3M syndrome; 3-M syndrome; Yakut short stature syndrome (ORPHA:2616)
Gene: CCDC8
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CCDC8
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CCDC8
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CCDC8
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CCDC8
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: 3M syndrome; 3-M syndrome; Yakut short stature syndrome (ORPHA:2616)
Gene: CCDC8
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: THREE M SYNDROME 3 (OMIM:614205)
Gene: CCDC8
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CCDC8
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CCDC8
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CCDC8
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CCDC8
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CCDC8
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CCDC8
Phenotype: Abnormal dental enamel morphology (HP:0000682)
Associated disease: 3M syndrome; 3-M syndrome; Yakut short stature syndrome (ORPHA:2616)
Gene: CCDC8
Phenotype: Delayed eruption of teeth (HP:0000684)
Associated disease: 3M syndrome; 3-M syndrome; Yakut short stature syndrome (ORPHA:2616)
Gene: CCDC8
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CCDC8
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CCDC8
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CCDC8
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CCDC8
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CCDC8
Phenotype: Decreased body weight (HP:0004325)
Associated disease: THREE M SYNDROME 3 (OMIM:614205)
Gene: CCDC8
Phenotype: Short stature (HP:0004322)
Associated disease: THREE M SYNDROME 3 (OMIM:614205)
Gene: CCDC8
Phenotype: Short stature (HP:0004322)
Associated disease: 3M syndrome; 3-M syndrome; Yakut short stature syndrome (ORPHA:2616)
Gene: CCDC8
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CCDC8
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CCDC8
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CCDC8
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CCDC8
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CCDC8
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CCDC8
Phenotype: Hypoplasia of the ulna (HP:0003022)
Associated disease: 3M syndrome; 3-M syndrome; Yakut short stature syndrome (ORPHA:2616)
Gene: CCDC8
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CCDC8
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CCDC8
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CCDC8
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CCDC8
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CCDC8
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CCDC8
Phenotype: Slender long bone (HP:0003100)
Associated disease: 3M syndrome; 3-M syndrome; Yakut short stature syndrome (ORPHA:2616)
Gene: CCDC8
Phenotype: Slender long bone (HP:0003100)
Associated disease: THREE M SYNDROME 3 (OMIM:614205)
Gene: CCDC8
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CCDC8
Phenotype: Hypoplastic ischia (HP:0003175)
Associated disease: 3M syndrome; 3-M syndrome; Yakut short stature syndrome (ORPHA:2616)
Gene: CCDC8
Phenotype: Hypoplastic pubic bone (HP:0003173)
Associated disease: 3M syndrome; 3-M syndrome; Yakut short stature syndrome (ORPHA:2616)
Gene: CCDC8
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CCDC8
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CCDC8
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CCDC8
Phenotype: Horizontal ribs (HP:0000888)
Associated disease: 3M syndrome; 3-M syndrome; Yakut short stature syndrome (ORPHA:2616)
Gene: CCDC8
Phenotype: Thin ribs (HP:0000883)
Associated disease: 3M syndrome; 3-M syndrome; Yakut short stature syndrome (ORPHA:2616)
Gene: CCDC8
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CCDC8
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CCDC8
Phenotype: Increased vertebral height (HP:0004570)
Associated disease: 3M syndrome; 3-M syndrome; Yakut short stature syndrome (ORPHA:2616)
Gene: CCDC8
Phenotype: Increased vertebral height (HP:0004570)
Associated disease: THREE M SYNDROME 3 (OMIM:614205)
Gene: CCDC8
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CCDC8
Phenotype: Short thorax (HP:0010306)
Associated disease: 3M syndrome; 3-M syndrome; Yakut short stature syndrome (ORPHA:2616)
Gene: CCDC8
Phenotype: Short thorax (HP:0010306)
Associated disease: THREE M SYNDROME 3 (OMIM:614205)
Gene: CCDC8
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CCDC8
Phenotype: Abnormal metaphysis morphology (HP:0000944)
Associated disease: 3M syndrome; 3-M syndrome; Yakut short stature syndrome (ORPHA:2616)
Gene: CCDC8
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CCDC8
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CCDC8
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: 3M syndrome; 3-M syndrome; Yakut short stature syndrome (ORPHA:2616)
Gene: CCDC8
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: THREE M SYNDROME 3 (OMIM:614205)
Gene: CCDC8
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CCDC8
Phenotype: Kyphosis (HP:0002808)
Associated disease: 3M syndrome; 3-M syndrome; Yakut short stature syndrome (ORPHA:2616)
Gene: CCDC8
Phenotype: Microcephaly (HP:0000252)
Associated disease: THREE M SYNDROME 3 (OMIM:614205)
Gene: CCDC8
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CCDC8
Phenotype: Everted lower lip vermilion (HP:0000232)
Associated disease: 3M syndrome; 3-M syndrome; Yakut short stature syndrome (ORPHA:2616)
Gene: CCDC8
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CCDC8
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CCDC8
Phenotype: Small for gestational age (HP:0001518)
Associated disease: THREE M SYNDROME 3 (OMIM:614205)
Gene: CCDC8
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: 3M syndrome; 3-M syndrome; Yakut short stature syndrome (ORPHA:2616)
Gene: CCDC8
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CCDC8
Phenotype: Growth delay (HP:0001510)
Associated disease: THREE M SYNDROME 3 (OMIM:614205)
Gene: CCDC8
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CCDC8
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CCDC8
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CCDC8
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CCDC8
Phenotype: Long philtrum (HP:0000343)
Associated disease: 3M syndrome; 3-M syndrome; Yakut short stature syndrome (ORPHA:2616)
Gene: CCDC8
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CCDC8
Phenotype: Long philtrum (HP:0000343)
Associated disease: THREE M SYNDROME 3 (OMIM:614205)
Gene: CCDC8
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CCDC8
Phenotype: Broad forehead (HP:0000337)
Associated disease: 3M syndrome; 3-M syndrome; Yakut short stature syndrome (ORPHA:2616)
Gene: CCDC8
Phenotype: Micromelia (HP:0002983)
Associated disease: 3M syndrome; 3-M syndrome; Yakut short stature syndrome (ORPHA:2616)
Gene: CCDC8
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CCDC8
Phenotype: Triangular face (HP:0000325)
Associated disease: 3M syndrome; 3-M syndrome; Yakut short stature syndrome (ORPHA:2616)
Gene: CCDC8
Phenotype: Triangular face (HP:0000325)
Associated disease: THREE M SYNDROME 3 (OMIM:614205)
Gene: CCDC8
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CCDC8
Phenotype: Pointed chin (HP:0000307)
Associated disease: 3M syndrome; 3-M syndrome; Yakut short stature syndrome (ORPHA:2616)
Gene: CCDC8
Phenotype: Pointed chin (HP:0000307)
Associated disease: THREE M SYNDROME 3 (OMIM:614205)
Gene: CCDC8
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CCDC8
Phenotype: Prominent nasal tip (HP:0005274)
Associated disease: THREE M SYNDROME 3 (OMIM:614205)
Gene: CCDC8
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CCDC8
Phenotype: Thick vermilion border (HP:0012471)
Associated disease: THREE M SYNDROME 3 (OMIM:614205)
Gene: CCDC8
Phenotype: Anteverted nares (HP:0000463)
Associated disease: 3M syndrome; 3-M syndrome; Yakut short stature syndrome (ORPHA:2616)
Gene: CCDC8
Phenotype: Anteverted nares (HP:0000463)
Associated disease: THREE M SYNDROME 3 (OMIM:614205)
Gene: CCDC8
Phenotype: Short neck (HP:0000470)
Associated disease: 3M syndrome; 3-M syndrome; Yakut short stature syndrome (ORPHA:2616)
Gene: CCDC8
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CCDC8
Phenotype: Short neck (HP:0000470)
Associated disease: THREE M SYNDROME 3 (OMIM:614205)
Gene: CCDC8
Phenotype: Prominent calcaneus (HP:0012428)
Associated disease: THREE M SYNDROME 3 (OMIM:614205)
Gene: CCDC8
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CCDC8
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CCDC8
Phenotype: Bulbous nose (HP:0000414)
Associated disease: 3M syndrome; 3-M syndrome; Yakut short stature syndrome (ORPHA:2616)
Gene: CCDC8
Phenotype: Protruding ear (HP:0000411)
Associated disease: 3M syndrome; 3-M syndrome; Yakut short stature syndrome (ORPHA:2616)
Gene: CCDC8
Phenotype: Protruding ear (HP:0000411)
Associated disease: THREE M SYNDROME 3 (OMIM:614205)
Gene: CCDC8
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)