TaoMedAI/RareMedData huggingface dataset:
Gene: CHRNG
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: Autosomal recessive multiple pterygium syndrome; Autosomal recessive non-lethal multiple pterygium syndrome; EVMPS; Escobar syndrome; Escobar variant multiple pterygium syndrome (ORPHA:2990)
Gene: CHRNG
Phenotype: Patellar aplasia (HP:0006443)
Associated disease: MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT (OMIM:265000)
Gene: CHRNG
Phenotype: Dysplastic patella (HP:0006446)
Associated disease: MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT (OMIM:265000)
Gene: CHRNG
Phenotype: Hip dislocation (HP:0002827)
Associated disease: MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT (OMIM:265000)
Gene: CHRNG
Phenotype: Multiple joint contractures (HP:0002828)
Associated disease: MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT (OMIM:265000)
Gene: CHRNG
Phenotype: Kyphosis (HP:0002808)
Associated disease: MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT (OMIM:265000)
Gene: CHRNG
Phenotype: Arthrogryposis multiplex congenita (HP:0002804)
Associated disease: MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT (OMIM:265000)
Gene: CHRNG
Phenotype: Arthrogryposis multiplex congenita (HP:0002804)
Associated disease: Autosomal recessive multiple pterygium syndrome; Autosomal recessive non-lethal multiple pterygium syndrome; EVMPS; Escobar syndrome; Escobar variant multiple pterygium syndrome (ORPHA:2990)
Gene: CHRNG
Phenotype: Knee flexion contracture (HP:0006380)
Associated disease: MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT (OMIM:265000)
Gene: CHRNG
Phenotype: Microcephaly (HP:0000252)
Associated disease: Autosomal recessive multiple pterygium syndrome; Autosomal recessive non-lethal multiple pterygium syndrome; EVMPS; Escobar syndrome; Escobar variant multiple pterygium syndrome (ORPHA:2990)
Gene: CHRNG
Phenotype: High palate (HP:0000218)
Associated disease: Autosomal recessive multiple pterygium syndrome; Autosomal recessive non-lethal multiple pterygium syndrome; EVMPS; Escobar syndrome; Escobar variant multiple pterygium syndrome (ORPHA:2990)
Gene: CHRNG
Phenotype: High palate (HP:0000218)
Associated disease: MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT (OMIM:265000)
Gene: CHRNG
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE (OMIM:253290)
Gene: CHRNG
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT (OMIM:265000)
Gene: CHRNG
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT (OMIM:265000)
Gene: CHRNG
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: Autosomal recessive multiple pterygium syndrome; Autosomal recessive non-lethal multiple pterygium syndrome; EVMPS; Escobar syndrome; Escobar variant multiple pterygium syndrome (ORPHA:2990)
Gene: CHRNG
Phenotype: Triangular mouth (HP:0000207)
Associated disease: MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT (OMIM:265000)
Gene: CHRNG
Phenotype: Orofacial cleft (HP:0000202)
Associated disease: Autosomal recessive multiple pterygium syndrome; Autosomal recessive non-lethal multiple pterygium syndrome; EVMPS; Escobar syndrome; Escobar variant multiple pterygium syndrome (ORPHA:2990)
Gene: CHRNG
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Autosomal recessive multiple pterygium syndrome; Autosomal recessive non-lethal multiple pterygium syndrome; EVMPS; Escobar syndrome; Escobar variant multiple pterygium syndrome (ORPHA:2990)
Gene: CHRNG
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE (OMIM:253290)
Gene: CHRNG
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Autosomal recessive multiple pterygium syndrome; Autosomal recessive non-lethal multiple pterygium syndrome; EVMPS; Escobar syndrome; Escobar variant multiple pterygium syndrome (ORPHA:2990)
Gene: CHRNG
Phenotype: Camptodactyly (HP:0012385)
Associated disease: MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT (OMIM:265000)
Gene: CHRNG
Phenotype: Vertebral fusion (HP:0002948)
Associated disease: MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE (OMIM:253290)
Gene: CHRNG
Phenotype: Fused cervical vertebrae (HP:0002949)
Associated disease: MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT (OMIM:265000)
Gene: CHRNG
Phenotype: Thoracolumbar scoliosis (HP:0002944)
Associated disease: MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT (OMIM:265000)
Gene: CHRNG
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Autosomal recessive multiple pterygium syndrome; Autosomal recessive non-lethal multiple pterygium syndrome; EVMPS; Escobar syndrome; Escobar variant multiple pterygium syndrome (ORPHA:2990)
Gene: CHRNG
Phenotype: Hearing abnormality (HP:0000364)
Associated disease: Autosomal recessive multiple pterygium syndrome; Autosomal recessive non-lethal multiple pterygium syndrome; EVMPS; Escobar syndrome; Escobar variant multiple pterygium syndrome (ORPHA:2990)
Gene: CHRNG
Phenotype: Low-set ears (HP:0000369)
Associated disease: Autosomal recessive multiple pterygium syndrome; Autosomal recessive non-lethal multiple pterygium syndrome; EVMPS; Escobar syndrome; Escobar variant multiple pterygium syndrome (ORPHA:2990)
Gene: CHRNG
Phenotype: Low-set ears (HP:0000369)
Associated disease: MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT (OMIM:265000)
Gene: CHRNG
Phenotype: Low-set ears (HP:0000369)
Associated disease: MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE (OMIM:253290)
Gene: CHRNG
Phenotype: Long philtrum (HP:0000343)
Associated disease: MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT (OMIM:265000)
Gene: CHRNG
Phenotype: Long philtrum (HP:0000343)
Associated disease: Autosomal recessive multiple pterygium syndrome; Autosomal recessive non-lethal multiple pterygium syndrome; EVMPS; Escobar syndrome; Escobar variant multiple pterygium syndrome (ORPHA:2990)
Gene: CHRNG
Phenotype: Micrognathia (HP:0000347)
Associated disease: Autosomal recessive multiple pterygium syndrome; Autosomal recessive non-lethal multiple pterygium syndrome; EVMPS; Escobar syndrome; Escobar variant multiple pterygium syndrome (ORPHA:2990)
Gene: CHRNG
Phenotype: Micrognathia (HP:0000347)
Associated disease: MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT (OMIM:265000)
Gene: CHRNG
Phenotype: Micrognathia (HP:0000347)
Associated disease: MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE (OMIM:253290)
Gene: CHRNG
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Autosomal recessive multiple pterygium syndrome; Autosomal recessive non-lethal multiple pterygium syndrome; EVMPS; Escobar syndrome; Escobar variant multiple pterygium syndrome (ORPHA:2990)
Gene: CHRNG
Phenotype: Hypertelorism (HP:0000316)
Associated disease: MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT (OMIM:265000)
Gene: CHRNG
Phenotype: Hypertelorism (HP:0000316)
Associated disease: MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE (OMIM:253290)
Gene: CHRNG
Phenotype: Abnormal aortic valve morphology (HP:0001646)
Associated disease: Autosomal recessive multiple pterygium syndrome; Autosomal recessive non-lethal multiple pterygium syndrome; EVMPS; Escobar syndrome; Escobar variant multiple pterygium syndrome (ORPHA:2990)
Gene: CHRNG
Phenotype: Facial asymmetry (HP:0000324)
Associated disease: Autosomal recessive multiple pterygium syndrome; Autosomal recessive non-lethal multiple pterygium syndrome; EVMPS; Escobar syndrome; Escobar variant multiple pterygium syndrome (ORPHA:2990)
Gene: CHRNG
Phenotype: Pointed chin (HP:0000307)
Associated disease: Autosomal recessive multiple pterygium syndrome; Autosomal recessive non-lethal multiple pterygium syndrome; EVMPS; Escobar syndrome; Escobar variant multiple pterygium syndrome (ORPHA:2990)
Gene: CHRNG
Phenotype: Weakness of facial musculature (HP:0030319)
Associated disease: MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT (OMIM:265000)
Gene: CHRNG
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT (OMIM:265000)
Gene: CHRNG
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Autosomal recessive multiple pterygium syndrome; Autosomal recessive non-lethal multiple pterygium syndrome; EVMPS; Escobar syndrome; Escobar variant multiple pterygium syndrome (ORPHA:2990)
Gene: CHRNG
Phenotype: Strabismus (HP:0000486)
Associated disease: Autosomal recessive multiple pterygium syndrome; Autosomal recessive non-lethal multiple pterygium syndrome; EVMPS; Escobar syndrome; Escobar variant multiple pterygium syndrome (ORPHA:2990)
Gene: CHRNG
Phenotype: Cystic hygroma (HP:0000476)
Associated disease: MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE (OMIM:253290)
Gene: CHRNG
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT (OMIM:265000)
Gene: CHRNG
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Autosomal recessive multiple pterygium syndrome; Autosomal recessive non-lethal multiple pterygium syndrome; EVMPS; Escobar syndrome; Escobar variant multiple pterygium syndrome (ORPHA:2990)
Gene: CHRNG
Phenotype: Abnormal eyelid morphology (HP:0000492)
Associated disease: Autosomal recessive multiple pterygium syndrome; Autosomal recessive non-lethal multiple pterygium syndrome; EVMPS; Escobar syndrome; Escobar variant multiple pterygium syndrome (ORPHA:2990)
Gene: CHRNG
Phenotype: Hydrops fetalis (HP:0001789)
Associated disease: MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT (OMIM:265000)
Gene: CHRNG
Phenotype: Depressed nasal ridge (HP:0000457)
Associated disease: MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE (OMIM:253290)
Gene: CHRNG
Phenotype: Short neck (HP:0000470)
Associated disease: MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT (OMIM:265000)
Gene: CHRNG
Phenotype: Webbed neck (HP:0000465)
Associated disease: Autosomal recessive multiple pterygium syndrome; Autosomal recessive non-lethal multiple pterygium syndrome; EVMPS; Escobar syndrome; Escobar variant multiple pterygium syndrome (ORPHA:2990)
Gene: CHRNG
Phenotype: Abnormal foot morphology (HP:0001760)
Associated disease: Autosomal recessive multiple pterygium syndrome; Autosomal recessive non-lethal multiple pterygium syndrome; EVMPS; Escobar syndrome; Escobar variant multiple pterygium syndrome (ORPHA:2990)
Gene: CHRNG
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT (OMIM:265000)
Gene: CHRNG
Phenotype: Rocker bottom foot (HP:0001838)
Associated disease: MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT (OMIM:265000)
Gene: CHRNG
Phenotype: Telecanthus (HP:0000506)
Associated disease: Autosomal recessive multiple pterygium syndrome; Autosomal recessive non-lethal multiple pterygium syndrome; EVMPS; Escobar syndrome; Escobar variant multiple pterygium syndrome (ORPHA:2990)
Gene: CHRNG
Phenotype: Ptosis (HP:0000508)
Associated disease: Autosomal recessive multiple pterygium syndrome; Autosomal recessive non-lethal multiple pterygium syndrome; EVMPS; Escobar syndrome; Escobar variant multiple pterygium syndrome (ORPHA:2990)
Gene: CHRNG
Phenotype: Ptosis (HP:0000508)
Associated disease: MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT (OMIM:265000)
Gene: CHRNG
Phenotype: Camptodactyly of toe (HP:0001836)
Associated disease: MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT (OMIM:265000)
Gene: CHRNG
Phenotype: Talipes calcaneovalgus (HP:0001884)
Associated disease: MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT (OMIM:265000)
Gene: CHUK
Phenotype: Horseshoe kidney (HP:0000085)
Associated disease: FETAL ENCASEMENT SYNDROME (OMIM:613630)
Gene: CHUK
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: BARTSOCAS-PAPAS SYNDROME 2 (OMIM:619339)
Gene: CHUK
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: FETAL ENCASEMENT SYNDROME (OMIM:613630)
Gene: CHUK
Phenotype: Accessory oral frenulum (HP:0000191)
Associated disease: BARTSOCAS-PAPAS SYNDROME 2 (OMIM:619339)
Gene: CHUK
Phenotype: Bilateral trilobed lung (HP:0011861)
Associated disease: FETAL ENCASEMENT SYNDROME (OMIM:613630)
Gene: CHUK
Phenotype: Congenital onset (HP:0003577)
Associated disease: BARTSOCAS-PAPAS SYNDROME 2 (OMIM:619339)
Gene: CHUK
Phenotype: Axillary pterygium (HP:0001060)
Associated disease: BARTSOCAS-PAPAS SYNDROME 2 (OMIM:619339)
Gene: CHUK
Phenotype: Lower limb undergrowth (HP:0009816)
Associated disease: FETAL ENCASEMENT SYNDROME (OMIM:613630)
Gene: CHUK
Phenotype: Upper limb undergrowth (HP:0009824)
Associated disease: FETAL ENCASEMENT SYNDROME (OMIM:613630)
Gene: CHUK
Phenotype: Small hand (HP:0200055)
Associated disease: BARTSOCAS-PAPAS SYNDROME 2 (OMIM:619339)
Gene: CHUK
Phenotype: Antecubital pterygium (HP:0009760)
Associated disease: BARTSOCAS-PAPAS SYNDROME 2 (OMIM:619339)
Gene: CHUK
Phenotype: Ankyloblepharon (HP:0009755)
Associated disease: BARTSOCAS-PAPAS SYNDROME 2 (OMIM:619339)
Gene: CHUK
Phenotype: Popliteal pterygium (HP:0009756)
Associated disease: BARTSOCAS-PAPAS SYNDROME 2 (OMIM:619339)
Gene: CHUK
Phenotype: 2-5 finger cutaneous syndactyly (HP:0005650)
Associated disease: BARTSOCAS-PAPAS SYNDROME 2 (OMIM:619339)
Gene: CHUK
Phenotype: Fetal onset (HP:0011461)
Associated disease: FETAL ENCASEMENT SYNDROME (OMIM:613630)
Gene: CHUK
Phenotype: Congenital diaphragmatic hernia (HP:0000776)
Associated disease: FETAL ENCASEMENT SYNDROME (OMIM:613630)
Gene: CHUK
Phenotype: Bilateral cleft lip (HP:0100336)
Associated disease: BARTSOCAS-PAPAS SYNDROME 2 (OMIM:619339)
Gene: CHUK
Phenotype: Bilateral cleft palate (HP:0100337)
Associated disease: BARTSOCAS-PAPAS SYNDROME 2 (OMIM:619339)
Gene: CHUK
Phenotype: Thin skin (HP:0000963)
Associated disease: FETAL ENCASEMENT SYNDROME (OMIM:613630)
Gene: CHUK
Phenotype: Absent distal phalanges (HP:0005807)
Associated disease: BARTSOCAS-PAPAS SYNDROME 2 (OMIM:619339)
Gene: CHUK
Phenotype: Wide anterior fontanel (HP:0000260)
Associated disease: BARTSOCAS-PAPAS SYNDROME 2 (OMIM:619339)
Gene: CHUK
Phenotype: Prominent occiput (HP:0000269)
Associated disease: BARTSOCAS-PAPAS SYNDROME 2 (OMIM:619339)
Gene: CHUK
Phenotype: Increased urinary 8-oxo-7,8-dihydroguanosine level (HP:0033984)
Associated disease: FETAL ENCASEMENT SYNDROME (OMIM:613630)
Gene: CHUK
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: FETAL ENCASEMENT SYNDROME (OMIM:613630)
Gene: CHUK
Phenotype: Omphalocele (HP:0001539)
Associated disease: FETAL ENCASEMENT SYNDROME (OMIM:613630)
Gene: CHUK
Phenotype: Overfolded helix (HP:0000396)
Associated disease: BARTSOCAS-PAPAS SYNDROME 2 (OMIM:619339)
Gene: CHUK
Phenotype: Low-set ears (HP:0000369)
Associated disease: BARTSOCAS-PAPAS SYNDROME 2 (OMIM:619339)
Gene: CHUK
Phenotype: Micrognathia (HP:0000347)
Associated disease: BARTSOCAS-PAPAS SYNDROME 2 (OMIM:619339)
Gene: CHUK
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: FETAL ENCASEMENT SYNDROME (OMIM:613630)
Gene: CHUK
Phenotype: Corneal opacity (HP:0007957)
Associated disease: BARTSOCAS-PAPAS SYNDROME 2 (OMIM:619339)
Gene: CHUK
Phenotype: Microphthalmia (HP:0000568)
Associated disease: BARTSOCAS-PAPAS SYNDROME 2 (OMIM:619339)
Gene: ERCC8
Phenotype: Cerebellar dentate nucleus calcification (HP:0002461)
Associated disease: Cockayne syndrome type III; Cockayne syndrome type 3 (ORPHA:90324)
Gene: ERCC8
Phenotype: Retinal atrophy (HP:0001105)
Associated disease: Cockayne syndrome type III; Cockayne syndrome type 3 (ORPHA:90324)
Gene: ERCC8
Phenotype: Retinal atrophy (HP:0001105)
Associated disease: COCKAYNE SYNDROME A (OMIM:216400)
Gene: ERCC8
Phenotype: Astrocytosis (HP:0002446)
Associated disease: Cockayne syndrome type III; Cockayne syndrome type 3 (ORPHA:90324)
Gene: ERCC8
Phenotype: Adult onset sensorineural hearing impairment (HP:0008615)
Associated disease: Cockayne syndrome type III; Cockayne syndrome type 3 (ORPHA:90324)
Gene: ERCC8
Phenotype: Increased blood pressure (HP:0032263)
Associated disease: Cockayne syndrome type III; Cockayne syndrome type 3 (ORPHA:90324)
Gene: ERCC8
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: COCKAYNE SYNDROME A (OMIM:216400)
Gene: ERCC8
Phenotype: Stroke (HP:0001297)
Associated disease: Cockayne syndrome type III; Cockayne syndrome type 3 (ORPHA:90324)
Gene: ERCC8
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: COCKAYNE SYNDROME A (OMIM:216400)
Gene: ERCC8
Phenotype: Polyneuropathy (HP:0001271)
Associated disease: COCKAYNE SYNDROME A (OMIM:216400)
Gene: ERCC8
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Cockayne syndrome type III; Cockayne syndrome type 3 (ORPHA:90324)
Gene: ERCC8
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Cockayne syndrome type 1; Cockayne syndrome type I (ORPHA:90321)
Gene: ERCC8
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Cockayne syndrome type 2; Cockayne syndrome type II (ORPHA:90322)
Gene: ERCC8
Phenotype: Gait disturbance (HP:0001288)
Associated disease: COCKAYNE SYNDROME A (OMIM:216400)
Gene: ERCC8
Phenotype: Areflexia (HP:0001284)
Associated disease: Cockayne syndrome type III; Cockayne syndrome type 3 (ORPHA:90324)
Gene: ERCC8
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: Cockayne syndrome type III; Cockayne syndrome type 3 (ORPHA:90324)
Gene: ERCC8
Phenotype: Seizure (HP:0001250)
Associated disease: COCKAYNE SYNDROME A (OMIM:216400)
Gene: ERCC8
Phenotype: Seizure (HP:0001250)
Associated disease: Cockayne syndrome type III; Cockayne syndrome type 3 (ORPHA:90324)
Gene: ERCC8
Phenotype: Seizure (HP:0001250)
Associated disease: Cockayne syndrome type 1; Cockayne syndrome type I (ORPHA:90321)
Gene: ERCC8
Phenotype: Hypotonia (HP:0001252)
Associated disease: COCKAYNE SYNDROME A (OMIM:216400)
Gene: ERCC8
Phenotype: Hypotonia (HP:0001252)
Associated disease: Cockayne syndrome type 1; Cockayne syndrome type I (ORPHA:90321)
Gene: ERCC8
Phenotype: Ataxia (HP:0001251)
Associated disease: COCKAYNE SYNDROME A (OMIM:216400)
Gene: ERCC8
Phenotype: Ataxia (HP:0001251)
Associated disease: Cockayne syndrome type 1; Cockayne syndrome type I (ORPHA:90321)
Gene: ERCC8
Phenotype: Ataxia (HP:0001251)
Associated disease: Cockayne syndrome type 2; Cockayne syndrome type II (ORPHA:90322)
Gene: ERCC8
Phenotype: Intellectual disability (HP:0001249)
Associated disease: COCKAYNE SYNDROME A (OMIM:216400)
Gene: ERCC8
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Cockayne syndrome type 1; Cockayne syndrome type I (ORPHA:90321)
Gene: ERCC8
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Cockayne syndrome type 2; Cockayne syndrome type II (ORPHA:90322)
Gene: ERCC8
Phenotype: Dysarthria (HP:0001260)
Associated disease: COCKAYNE SYNDROME A (OMIM:216400)
Gene: ERCC8
Phenotype: Global developmental delay (HP:0001263)
Associated disease: COCKAYNE SYNDROME A (OMIM:216400)
Gene: ERCC8
Phenotype: Subcortical white matter calcifications (HP:0007346)
Associated disease: Cockayne syndrome type III; Cockayne syndrome type 3 (ORPHA:90324)
Gene: ERCC8
Phenotype: Subcortical white matter calcifications (HP:0007346)
Associated disease: Cockayne syndrome type 2; Cockayne syndrome type II (ORPHA:90322)
Gene: ERCC8
Phenotype: Patchy demyelination of subcortical white matter (HP:0002545)
Associated disease: COCKAYNE SYNDROME A (OMIM:216400)
Gene: ERCC8
Phenotype: Patchy demyelination of subcortical white matter (HP:0002545)
Associated disease: Cockayne syndrome type 2; Cockayne syndrome type II (ORPHA:90322)
Gene: ERCC8
Phenotype: Limb hypertonia (HP:0002509)
Associated disease: Cockayne syndrome type 2; Cockayne syndrome type II (ORPHA:90322)
Gene: ERCC8
Phenotype: Renal hypoplasia (HP:0000089)
Associated disease: Cockayne syndrome type III; Cockayne syndrome type 3 (ORPHA:90324)
Gene: ERCC8
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: Cockayne syndrome type III; Cockayne syndrome type 3 (ORPHA:90324)
Gene: ERCC8
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: Cockayne syndrome type 1; Cockayne syndrome type I (ORPHA:90321)
Gene: ERCC8
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: COCKAYNE SYNDROME A (OMIM:216400)
Gene: ERCC8
Phenotype: Proteinuria (HP:0000093)
Associated disease: Cockayne syndrome type 1; Cockayne syndrome type I (ORPHA:90321)
Gene: ERCC8
Phenotype: Proteinuria (HP:0000093)
Associated disease: COCKAYNE SYNDROME A (OMIM:216400)
Gene: ERCC8
Phenotype: Hydroureter (HP:0000072)
Associated disease: Cockayne syndrome type III; Cockayne syndrome type 3 (ORPHA:90324)
Gene: ERCC8
Phenotype: Limitation of joint mobility (HP:0001376)
Associated disease: COCKAYNE SYNDROME A (OMIM:216400)
Gene: ERCC8
Phenotype: Flexion contracture (HP:0001371)
Associated disease: Cockayne syndrome type III; Cockayne syndrome type 3 (ORPHA:90324)
Gene: ERCC8
Phenotype: Flexion contracture (HP:0001371)
Associated disease: Cockayne syndrome type 2; Cockayne syndrome type II (ORPHA:90322)
Gene: ERCC8
Phenotype: Micropenis (HP:0000054)
Associated disease: COCKAYNE SYNDROME A (OMIM:216400)
Gene: ERCC8
Phenotype: Thickened calvaria (HP:0002684)
Associated disease: COCKAYNE SYNDROME A (OMIM:216400)
Gene: ERCC8
Phenotype: Urinary retention (HP:0000016)
Associated disease: Cockayne syndrome type III; Cockayne syndrome type 3 (ORPHA:90324)
Gene: ERCC8
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Cockayne syndrome type III; Cockayne syndrome type 3 (ORPHA:90324)
Gene: ERCC8
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Cockayne syndrome type 1; Cockayne syndrome type I (ORPHA:90321)
Gene: ERCC8
Phenotype: Male hypogonadism (HP:0000026)
Associated disease: Cockayne syndrome type 1; Cockayne syndrome type I (ORPHA:90321)
Gene: ERCC8
Phenotype: Male hypogonadism (HP:0000026)
Associated disease: Cockayne syndrome type 2; Cockayne syndrome type II (ORPHA:90322)
Gene: ERCC8
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: COCKAYNE SYNDROME A (OMIM:216400)
Gene: ERCC8
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Cockayne syndrome type 1; Cockayne syndrome type I (ORPHA:90321)
Gene: ERCC8
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Cockayne syndrome type 2; Cockayne syndrome type II (ORPHA:90322)
Gene: ERCC8
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: Cockayne syndrome type 1; Cockayne syndrome type I (ORPHA:90321)
Gene: ERCC8
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: COCKAYNE SYNDROME A (OMIM:216400)
Gene: ERCC8
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: Cockayne syndrome type 2; Cockayne syndrome type II (ORPHA:90322)
Gene: ERCC8
Phenotype: Severe postnatal growth retardation (HP:0008850)
Associated disease: COCKAYNE SYNDROME A (OMIM:216400)
Gene: ERCC8
Phenotype: Hypoplastic pelvis (HP:0008839)
Associated disease: COCKAYNE SYNDROME A (OMIM:216400)
Gene: ERCC8
Phenotype: Prematurely aged appearance (HP:0007495)
Associated disease: COCKAYNE SYNDROME A (OMIM:216400)
Gene: ERCC8
Phenotype: Muscle weakness (HP:0001324)
Associated disease: COCKAYNE SYNDROME A (OMIM:216400)
Gene: ERCC8
Phenotype: Neurogenic bladder (HP:0000011)
Associated disease: Cockayne syndrome type III; Cockayne syndrome type 3 (ORPHA:90324)
Gene: ERCC8
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: COCKAYNE SYNDROME A (OMIM:216400)
Gene: ERCC8
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: UV-SENSITIVE SYNDROME 2 (OMIM:614621)
Gene: ERCC8
Phenotype: Tremor (HP:0001337)
Associated disease: Cockayne syndrome type 1; Cockayne syndrome type I (ORPHA:90321)
Gene: ERCC8
Phenotype: Tremor (HP:0001337)
Associated disease: COCKAYNE SYNDROME A (OMIM:216400)
Gene: ERCC8
Phenotype: Scoliosis (HP:0002650)
Associated disease: Cockayne syndrome type III; Cockayne syndrome type 3 (ORPHA:90324)
Gene: ERCC8
Phenotype: Scoliosis (HP:0002650)
Associated disease: Cockayne syndrome type 1; Cockayne syndrome type I (ORPHA:90321)
Gene: ERCC8
Phenotype: Scoliosis (HP:0002650)
Associated disease: Cockayne syndrome type 2; Cockayne syndrome type II (ORPHA:90322)
Gene: ERCC8
Phenotype: Aortic root aneurysm (HP:0002616)
Associated disease: Cockayne syndrome type III; Cockayne syndrome type 3 (ORPHA:90324)
Gene: ERCC8
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: Cockayne syndrome type 1; Cockayne syndrome type I (ORPHA:90321)
Gene: ERCC8
Phenotype: Hypogonadism (HP:0000135)
Associated disease: COCKAYNE SYNDROME A (OMIM:216400)