TaoMedAI/RareMedData huggingface dataset:
Gene: CEP152
Phenotype: Scoliosis (HP:0002650)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: CEP152
Phenotype: Scoliosis (HP:0002650)
Associated disease: SECKEL SYNDROME 5 (OMIM:613823)
Gene: CEP152
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CEP152
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CEP152
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CEP152
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CEP152
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CEP152
Phenotype: Cleft palate (HP:0000175)
Associated disease: SECKEL SYNDROME 5 (OMIM:613823)
Gene: CEP152
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CEP152
Phenotype: Enamel hypoplasia (HP:0006297)
Associated disease: SECKEL SYNDROME 5 (OMIM:613823)
Gene: CEP152
Phenotype: Unilateral renal agenesis (HP:0000122)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: CEP152
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: SECKEL SYNDROME 5 (OMIM:613823)
Gene: CEP152
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: CEP152
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: CEP152
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CEP152
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CEP152
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: CEP152
Phenotype: Cone-shaped epiphysis (HP:0010579)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: CEP152
Phenotype: Congenital onset (HP:0003577)
Associated disease: SECKEL SYNDROME 5 (OMIM:613823)
Gene: CEP152
Phenotype: Impulsivity (HP:0100710)
Associated disease: MICROCEPHALY 9, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:614852)
Gene: CEP152
Phenotype: Self-injurious behavior (HP:0100716)
Associated disease: MICROCEPHALY 9, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:614852)
Gene: CEP152
Phenotype: Sparse scalp hair (HP:0002209)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: CEP152
Phenotype: Gray matter heterotopia (HP:0002282)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: CEP152
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CEP152
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CEP152
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CEP152
Phenotype: Tooth agenesis (HP:0009804)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: CEP152
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CEP152
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CEP152
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CEP152
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CEP152
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: SECKEL SYNDROME 5 (OMIM:613823)
Gene: CEP152
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: CEP152
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CEP152
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CEP152
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CEP152
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CEP152
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CEP152
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CEP152
Phenotype: Abnormal dental enamel morphology (HP:0000682)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: CEP152
Phenotype: Mild global developmental delay (HP:0011342)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: CEP152
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CEP152
Phenotype: Oligodontia (HP:0000677)
Associated disease: SECKEL SYNDROME 5 (OMIM:613823)
Gene: CEP152
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CEP152
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CEP152
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CEP152
Phenotype: Hypodontia (HP:0000668)
Associated disease: SECKEL SYNDROME 5 (OMIM:613823)
Gene: CEP152
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CEP152
Phenotype: Short stature (HP:0004322)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: CEP152
Phenotype: Short stature (HP:0004322)
Associated disease: SECKEL SYNDROME 5 (OMIM:613823)
Gene: CEP152
Phenotype: Short stature (HP:0004322)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: CEP152
Phenotype: Cachexia (HP:0004326)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: CEP152
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CEP152
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CEP152
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CEP152
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CEP152
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CEP152
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CEP152
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CEP152
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CEP152
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CEP152
Phenotype: Motor tics (HP:0100034)
Associated disease: MICROCEPHALY 9, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:614852)
Gene: CEP152
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CEP152
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: MICROCEPHALY 9, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:614852)
Gene: CEP152
Phenotype: Compulsive behaviors (HP:0000722)
Associated disease: MICROCEPHALY 9, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:614852)
Gene: CEP152
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CEP152
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CEP152
Phenotype: Abnormal cortical bone morphology (HP:0003103)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: CEP152
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CEP152
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CEP152
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CEP152
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CEP152
Phenotype: 11 pairs of ribs (HP:0000878)
Associated disease: SECKEL SYNDROME 5 (OMIM:613823)
Gene: CEP152
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CEP152
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CEP152
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CEP152
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CEP152
Phenotype: Short middle phalanx of finger (HP:0005819)
Associated disease: SECKEL SYNDROME 5 (OMIM:613823)
Gene: CEP152
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CEP152
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CEP152
Phenotype: Retrognathia (HP:0000278)
Associated disease: SECKEL SYNDROME 5 (OMIM:613823)
Gene: CEP152
Phenotype: Selective tooth agenesis (HP:0001592)
Associated disease: SECKEL SYNDROME 5 (OMIM:613823)
Gene: CEP152
Phenotype: Narrow face (HP:0000275)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: CEP152
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CEP152
Phenotype: Microcephaly (HP:0000252)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: CEP152
Phenotype: Microcephaly (HP:0000252)
Associated disease: SECKEL SYNDROME 5 (OMIM:613823)
Gene: CEP152
Phenotype: Microcephaly (HP:0000252)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: CEP152
Phenotype: Microcephaly (HP:0000252)
Associated disease: MICROCEPHALY 9, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:614852)
Gene: CEP152
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CEP152
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: CEP152
Phenotype: High palate (HP:0000218)
Associated disease: SECKEL SYNDROME 5 (OMIM:613823)
Gene: CEP152
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CEP152
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CEP152
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: CEP152
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CEP152
Phenotype: Growth delay (HP:0001510)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: CEP152
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CEP152
Phenotype: Absent earlobe (HP:0000387)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: CEP152
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CEP152
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CEP152
Phenotype: Abnormal earlobe morphology (HP:0000363)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: CEP152
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CEP152
Phenotype: Low-set ears (HP:0000369)
Associated disease: SECKEL SYNDROME 5 (OMIM:613823)
Gene: CEP152
Phenotype: Sloping forehead (HP:0000340)
Associated disease: SECKEL SYNDROME 5 (OMIM:613823)
Gene: CEP152
Phenotype: Sloping forehead (HP:0000340)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: CEP152
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CEP152
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CEP152
Phenotype: Micrognathia (HP:0000347)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: CEP152
Phenotype: Micrognathia (HP:0000347)
Associated disease: SECKEL SYNDROME 5 (OMIM:613823)
Gene: CEP152
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CEP152
Phenotype: Facial asymmetry (HP:0000324)
Associated disease: SECKEL SYNDROME 5 (OMIM:613823)
Gene: CEP152
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CEP152
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CEP152
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CEP152
Phenotype: Strabismus (HP:0000486)
Associated disease: SECKEL SYNDROME 5 (OMIM:613823)
Gene: CEP152
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: SECKEL SYNDROME 5 (OMIM:613823)
Gene: CEP152
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: CEP152
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CEP152
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CEP152
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CEP152
Phenotype: Pes planus (HP:0001763)
Associated disease: SECKEL SYNDROME 5 (OMIM:613823)
Gene: CEP152
Phenotype: Convex nasal ridge (HP:0000444)
Associated disease: SECKEL SYNDROME 5 (OMIM:613823)
Gene: CEP152
Phenotype: Convex nasal ridge (HP:0000444)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: CEP152
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: SECKEL SYNDROME 5 (OMIM:613823)
Gene: CEP152
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CEP152
Phenotype: Sandal gap (HP:0001852)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: CEP152
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CEP152
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CEP152
Phenotype: Glaucoma (HP:0000501)
Associated disease: Seckel syndrome (ORPHA:808)
Gene: CEP152
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: CEP152
Phenotype: Blepharophimosis (HP:0000581)
Associated disease: SECKEL SYNDROME 5 (OMIM:613823)
Gene: CEP152
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CEP152
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CEP152
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RIMS1
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RIMS1
Phenotype: Retinal atrophy (HP:0001105)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: RIMS1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RIMS1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RIMS1
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RIMS1
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RIMS1
Phenotype: Dyschromatopsia (HP:0007641)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: RIMS1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RIMS1
Phenotype: Nystagmus (HP:0000639)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: RIMS1
Phenotype: Photophobia (HP:0000613)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: RIMS1
Phenotype: Central scotoma (HP:0000603)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: RIMS1
Phenotype: Abnormal full-field electroretinogram (HP:0030466)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: RIMS1
Phenotype: Nyctalopia (HP:0000662)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: RIMS1
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RIMS1
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RIMS1
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RIMS1
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: RIMS1
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RIMS1
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: RIMS1
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: RIMS1
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RIMS1
Phenotype: Metamorphopsia (HP:0012508)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: RIMS1
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RIMS1
Phenotype: Progressive visual loss (HP:0000529)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: RIMS1
Phenotype: Visual impairment (HP:0000505)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: RIMS1
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RIMS1
Phenotype: Color vision defect (HP:0000551)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: RIMS1
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: RIMS1
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RIMS1
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: WDFY3
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MICROCEPHALY 18, PRIMARY, AUTOSOMAL DOMINANT (OMIM:617520)
Gene: WDFY3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MICROCEPHALY 18, PRIMARY, AUTOSOMAL DOMINANT (OMIM:617520)
Gene: WDFY3
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: MICROCEPHALY 18, PRIMARY, AUTOSOMAL DOMINANT (OMIM:617520)
Gene: WDFY3
Phenotype: Microcephaly (HP:0000252)
Associated disease: MICROCEPHALY 18, PRIMARY, AUTOSOMAL DOMINANT (OMIM:617520)
Gene: MAPKBP1
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease: NEPHRONOPHTHISIS 20 (OMIM:617271)
Gene: MAPKBP1
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: NEPHRONOPHTHISIS 20 (OMIM:617271)
Gene: MAPKBP1
Phenotype: Nephronophthisis (HP:0000090)
Associated disease: NEPHRONOPHTHISIS 20 (OMIM:617271)
Gene: MAPKBP1
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: NEPHRONOPHTHISIS 20 (OMIM:617271)
Gene: MAPKBP1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEPHRONOPHTHISIS 20 (OMIM:617271)
Gene: MAPKBP1
Phenotype: Scoliosis (HP:0002650)
Associated disease: NEPHRONOPHTHISIS 20 (OMIM:617271)
Gene: MAPKBP1
Phenotype: Renal cyst (HP:0000107)
Associated disease: NEPHRONOPHTHISIS 20 (OMIM:617271)
Gene: MAPKBP1
Phenotype: Progressive (HP:0003676)
Associated disease: NEPHRONOPHTHISIS 20 (OMIM:617271)
Gene: MAPKBP1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: NEPHRONOPHTHISIS 20 (OMIM:617271)
Gene: MAPKBP1
Phenotype: Young adult onset (HP:0011462)
Associated disease: NEPHRONOPHTHISIS 20 (OMIM:617271)
Gene: PLCH1
Phenotype: Poor speech (HP:0002465)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: PLCH1
Phenotype: Limb dystonia (HP:0002451)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: PLCH1
Phenotype: Oromotor apraxia (HP:0007301)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: PLCH1
Phenotype: Single naris (HP:0009932)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: PLCH1
Phenotype: Cyclopia (HP:0009914)
Associated disease: HOLOPROSENCEPHALY 14 (OMIM:619895)
Gene: PLCH1
Phenotype: Cyclopia (HP:0009914)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: PLCH1
Phenotype: Aortic valve atresia (HP:0010883)
Associated disease: HOLOPROSENCEPHALY 14 (OMIM:619895)
Gene: PLCH1
Phenotype: Subependymal cysts (HP:0002416)
Associated disease: HOLOPROSENCEPHALY 14 (OMIM:619895)
Gene: PLCH1
Phenotype: Aqueductal stenosis (HP:0002410)
Associated disease: HOLOPROSENCEPHALY 14 (OMIM:619895)
Gene: PLCH1
Phenotype: Posterior fossa cyst (HP:0007291)
Associated disease: HOLOPROSENCEPHALY 14 (OMIM:619895)
Gene: PLCH1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: HOLOPROSENCEPHALY 14 (OMIM:619895)
Gene: PLCH1
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: HOLOPROSENCEPHALY 14 (OMIM:619895)
Gene: PLCH1
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: PLCH1
Phenotype: Lethargy (HP:0001254)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: PLCH1
Phenotype: Seizure (HP:0001250)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: PLCH1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: PLCH1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: HOLOPROSENCEPHALY 14 (OMIM:619895)
Gene: PLCH1
Phenotype: Spasticity (HP:0001257)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: PLCH1
Phenotype: Inability to walk (HP:0002540)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: PLCH1
Phenotype: Interhemispheric cyst (HP:0032327)
Associated disease: HOLOPROSENCEPHALY 14 (OMIM:619895)
Gene: PLCH1
Phenotype: Flexion contracture (HP:0001371)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: PLCH1
Phenotype: Holoprosencephaly (HP:0001360)
Associated disease: HOLOPROSENCEPHALY 14 (OMIM:619895)
Gene: PLCH1
Phenotype: Absent septum pellucidum (HP:0001331)
Associated disease: HOLOPROSENCEPHALY 14 (OMIM:619895)
Gene: PLCH1
Phenotype: Specific learning disability (HP:0001328)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: PLCH1
Phenotype: Absent speech (HP:0001344)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: PLCH1
Phenotype: Partial agenesis of the corpus callosum (HP:0001338)
Associated disease: HOLOPROSENCEPHALY 14 (OMIM:619895)
Gene: PLCH1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HOLOPROSENCEPHALY 14 (OMIM:619895)
Gene: PLCH1
Phenotype: Dandy-Walker malformation (HP:0001305)
Associated disease: HOLOPROSENCEPHALY 14 (OMIM:619895)
Gene: PLCH1
Phenotype: Scoliosis (HP:0002650)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: PLCH1
Phenotype: Bifid uvula (HP:0000193)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)
Gene: PLCH1
Phenotype: Median cleft upper lip (HP:0000161)
Associated disease: HOLOPROSENCEPHALY 14 (OMIM:619895)
Gene: PLCH1
Phenotype: Median cleft upper lip (HP:0000161)
Associated disease: Alobar holoprosencephaly (ORPHA:93925)