TaoMedAI/RareMedData huggingface dataset:
Gene: GNPTG
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPTG
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPTG
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNPTG
Phenotype: Joint stiffness (HP:0001387)
Associated disease: MUCOLIPIDOSIS III GAMMA (OMIM:252605)
Gene: GNPTG
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPTG
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNPTG
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPTG
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPTG
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNPTG
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPTG
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: GNPTG
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPTG
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MUCOLIPIDOSIS III GAMMA (OMIM:252605)
Gene: GNPTG
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: GNPTG
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNPTG
Phenotype: Scoliosis (HP:0002650)
Associated disease: MUCOLIPIDOSIS III GAMMA (OMIM:252605)
Gene: GNPTG
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNPTG
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPTG
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNPTG
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPTG
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPTG
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPTG
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: GNPTG
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: GNPTG
Phenotype: Increased serum beta-hexosaminidase (HP:0003333)
Associated disease: MUCOLIPIDOSIS III GAMMA (OMIM:252605)
Gene: GNPTG
Phenotype: Hyperlordosis (HP:0003307)
Associated disease: MUCOLIPIDOSIS III GAMMA (OMIM:252605)
Gene: GNPTG
Phenotype: Flat capital femoral epiphysis (HP:0003370)
Associated disease: MUCOLIPIDOSIS III GAMMA (OMIM:252605)
Gene: GNPTG
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNPTG
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPTG
Phenotype: Mucopolysacchariduria (HP:0008155)
Associated disease: MUCOLIPIDOSIS III GAMMA (OMIM:252605)
Gene: GNPTG
Phenotype: Increased iduronate sulfatase level (HP:0003538)
Associated disease: MUCOLIPIDOSIS III GAMMA (OMIM:252605)
Gene: GNPTG
Phenotype: Shoulder contracture (HP:0034665)
Associated disease: MUCOLIPIDOSIS III GAMMA (OMIM:252605)
Gene: GNPTG
Phenotype: Finger joint contracture (HP:0034681)
Associated disease: MUCOLIPIDOSIS III GAMMA (OMIM:252605)
Gene: GNPTG
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPTG
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNPTG
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPTG
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPTG
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNPTG
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: GNPTG
Phenotype: Juvenile onset (HP:0003621)
Associated disease: MUCOLIPIDOSIS III GAMMA (OMIM:252605)
Gene: GNPTG
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNPTG
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNPTG
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPTG
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNPTG
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNPTG
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPTG
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNPTG
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPTG
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPTG
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: GNPTG
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNPTG
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPTG
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPTG
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPTG
Phenotype: Short stature (HP:0004322)
Associated disease: MUCOLIPIDOSIS III GAMMA (OMIM:252605)
Gene: GNPTG
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNPTG
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNPTG
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPTG
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPTG
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPTG
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPTG
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPTG
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: MUCOLIPIDOSIS III GAMMA (OMIM:252605)
Gene: GNPTG
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPTG
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPTG
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPTG
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: GNPTG
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: GNPTG
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPTG
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPTG
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPTG
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPTG
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPTG
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNPTG
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNPTG
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPTG
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNPTG
Phenotype: Claw hand deformity (HP:0034337)
Associated disease: MUCOLIPIDOSIS III GAMMA (OMIM:252605)
Gene: GNPTG
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPTG
Phenotype: Dysostosis multiplex (HP:0000943)
Associated disease: MUCOLIPIDOSIS III GAMMA (OMIM:252605)
Gene: GNPTG
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPTG
Phenotype: Coarse facial features (HP:0000280)
Associated disease: MUCOLIPIDOSIS III GAMMA (OMIM:252605)
Gene: GNPTG
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPTG
Phenotype: Opacification of the corneal stroma (HP:0007759)
Associated disease: MUCOLIPIDOSIS III GAMMA (OMIM:252605)
Gene: GNPTG
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: GNPTG
Phenotype: Arthralgia (HP:0002829)
Associated disease: MUCOLIPIDOSIS III GAMMA (OMIM:252605)
Gene: GNPTG
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPTG
Phenotype: Kyphosis (HP:0002808)
Associated disease: MUCOLIPIDOSIS III GAMMA (OMIM:252605)
Gene: GNPTG
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPTG
Phenotype: Genu valgum (HP:0002857)
Associated disease: MUCOLIPIDOSIS III GAMMA (OMIM:252605)
Gene: GNPTG
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNPTG
Phenotype: Flared iliac wing (HP:0002869)
Associated disease: MUCOLIPIDOSIS III GAMMA (OMIM:252605)
Gene: GNPTG
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNPTG
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPTG
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: GNPTG
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNPTG
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPTG
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPTG
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNPTG
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPTG
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNPTG
Phenotype: Aortic valve stenosis (HP:0001650)
Associated disease: MUCOLIPIDOSIS III GAMMA (OMIM:252605)
Gene: GNPTG
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPTG
Phenotype: Aortic regurgitation (HP:0001659)
Associated disease: MUCOLIPIDOSIS III GAMMA (OMIM:252605)
Gene: GNPTG
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPTG
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNPTG
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPTG
Phenotype: Short neck (HP:0000470)
Associated disease: MUCOLIPIDOSIS III GAMMA (OMIM:252605)
Gene: GNPTG
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPTG
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPTG
Phenotype: Pes planus (HP:0001763)
Associated disease: MUCOLIPIDOSIS III GAMMA (OMIM:252605)
Gene: GNPTG
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPTG
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: GNPTG
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPTG
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNPTG
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPTG
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: GNPTG
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPTG
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPTG
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNPTG
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: GNPTG
Phenotype: Myopia (HP:0000545)
Associated disease: MUCOLIPIDOSIS III GAMMA (OMIM:252605)
Gene: GNPTG
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TUBB6
Phenotype: Brain imaging abnormality (HP:0410263)
Associated disease: FACIAL PALSY, CONGENITAL, WITH PTOSIS AND VELOPHARYNGEAL DYSFUNCTION (OMIM:617732)
Gene: TUBB6
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: FACIAL PALSY, CONGENITAL, WITH PTOSIS AND VELOPHARYNGEAL DYSFUNCTION (OMIM:617732)
Gene: TUBB6
Phenotype: Dysphagia (HP:0002015)
Associated disease: FACIAL PALSY, CONGENITAL, WITH PTOSIS AND VELOPHARYNGEAL DYSFUNCTION (OMIM:617732)
Gene: TUBB6
Phenotype: Infantile onset (HP:0003593)
Associated disease: FACIAL PALSY, CONGENITAL, WITH PTOSIS AND VELOPHARYNGEAL DYSFUNCTION (OMIM:617732)
Gene: TUBB6
Phenotype: Facial palsy (HP:0010628)
Associated disease: FACIAL PALSY, CONGENITAL, WITH PTOSIS AND VELOPHARYNGEAL DYSFUNCTION (OMIM:617732)
Gene: TUBB6
Phenotype: Nonprogressive (HP:0003680)
Associated disease: FACIAL PALSY, CONGENITAL, WITH PTOSIS AND VELOPHARYNGEAL DYSFUNCTION (OMIM:617732)
Gene: TUBB6
Phenotype: Nasal regurgitation (HP:0011469)
Associated disease: FACIAL PALSY, CONGENITAL, WITH PTOSIS AND VELOPHARYNGEAL DYSFUNCTION (OMIM:617732)
Gene: TUBB6
Phenotype: Velopharyngeal insufficiency (HP:0000220)
Associated disease: FACIAL PALSY, CONGENITAL, WITH PTOSIS AND VELOPHARYNGEAL DYSFUNCTION (OMIM:617732)
Gene: TUBB6
Phenotype: Hypernasal speech (HP:0001611)
Associated disease: FACIAL PALSY, CONGENITAL, WITH PTOSIS AND VELOPHARYNGEAL DYSFUNCTION (OMIM:617732)
Gene: TUBB6
Phenotype: Ptosis (HP:0000508)
Associated disease: FACIAL PALSY, CONGENITAL, WITH PTOSIS AND VELOPHARYNGEAL DYSFUNCTION (OMIM:617732)
Gene: ZNF469
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: Ehlers-Danlos syndrome type 6B; Brittle cornea syndrome (ORPHA:90354)
Gene: ZNF469
Phenotype: Corneal dystrophy (HP:0001131)
Associated disease: Ehlers-Danlos syndrome type 6B; Brittle cornea syndrome (ORPHA:90354)
Gene: ZNF469
Phenotype: Keratoglobus (HP:0001119)
Associated disease: Ehlers-Danlos syndrome type 6B; Brittle cornea syndrome (ORPHA:90354)
Gene: ZNF469
Phenotype: Keratoglobus (HP:0001119)
Associated disease: BRITTLE CORNEA SYNDROME 1 (OMIM:229200)
Gene: ZNF469
Phenotype: Abnormality of hair pigmentation (HP:0009887)
Associated disease: Ehlers-Danlos syndrome type 6B; Brittle cornea syndrome (ORPHA:90354)
Gene: ZNF469
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Ehlers-Danlos syndrome type 6B; Brittle cornea syndrome (ORPHA:90354)
Gene: ZNF469
Phenotype: Congenital hip dislocation (HP:0001374)
Associated disease: BRITTLE CORNEA SYNDROME 1 (OMIM:229200)
Gene: ZNF469
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: Ehlers-Danlos syndrome type 6B; Brittle cornea syndrome (ORPHA:90354)
Gene: ZNF469
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Ehlers-Danlos syndrome type 6B; Brittle cornea syndrome (ORPHA:90354)
Gene: ZNF469
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: BRITTLE CORNEA SYNDROME 1 (OMIM:229200)
Gene: ZNF469
Phenotype: Palmoplantar cutis laxa (HP:0007517)
Associated disease: BRITTLE CORNEA SYNDROME 1 (OMIM:229200)
Gene: ZNF469
Phenotype: Increased susceptibility to fractures (HP:0002659)
Associated disease: Ehlers-Danlos syndrome type 6B; Brittle cornea syndrome (ORPHA:90354)
Gene: ZNF469
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: BRITTLE CORNEA SYNDROME 1 (OMIM:229200)
Gene: ZNF469
Phenotype: Scoliosis (HP:0002650)
Associated disease: BRITTLE CORNEA SYNDROME 1 (OMIM:229200)
Gene: ZNF469
Phenotype: Scoliosis (HP:0002650)
Associated disease: Ehlers-Danlos syndrome type 6B; Brittle cornea syndrome (ORPHA:90354)
Gene: ZNF469
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: Ehlers-Danlos syndrome type 6B; Brittle cornea syndrome (ORPHA:90354)
Gene: ZNF469
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: Ehlers-Danlos syndrome type 6B; Brittle cornea syndrome (ORPHA:90354)
Gene: ZNF469
Phenotype: Cleft palate (HP:0000175)
Associated disease: Ehlers-Danlos syndrome type 6B; Brittle cornea syndrome (ORPHA:90354)
Gene: ZNF469
Phenotype: Myalgia (HP:0003326)
Associated disease: Ehlers-Danlos syndrome type 6B; Brittle cornea syndrome (ORPHA:90354)
Gene: ZNF469
Phenotype: Spondylolisthesis (HP:0003302)
Associated disease: BRITTLE CORNEA SYNDROME 1 (OMIM:229200)
Gene: ZNF469
Phenotype: Abnormal epiphysis morphology (HP:0005930)
Associated disease: Ehlers-Danlos syndrome type 6B; Brittle cornea syndrome (ORPHA:90354)
Gene: ZNF469
Phenotype: Hernia (HP:0100790)
Associated disease: Ehlers-Danlos syndrome type 6B; Brittle cornea syndrome (ORPHA:90354)
Gene: ZNF469
Phenotype: Red hair (HP:0002297)
Associated disease: BRITTLE CORNEA SYNDROME 1 (OMIM:229200)
Gene: ZNF469
Phenotype: Corneal erosion (HP:0200020)
Associated disease: Ehlers-Danlos syndrome type 6B; Brittle cornea syndrome (ORPHA:90354)
Gene: ZNF469
Phenotype: Decreased corneal thickness (HP:0100689)
Associated disease: Ehlers-Danlos syndrome type 6B; Brittle cornea syndrome (ORPHA:90354)
Gene: ZNF469
Phenotype: Decreased corneal thickness (HP:0100689)
Associated disease: BRITTLE CORNEA SYNDROME 1 (OMIM:229200)
Gene: ZNF469
Phenotype: Dentinogenesis imperfecta (HP:0000703)
Associated disease: BRITTLE CORNEA SYNDROME 1 (OMIM:229200)
Gene: ZNF469
Phenotype: Molluscoid pseudotumors (HP:0000993)
Associated disease: BRITTLE CORNEA SYNDROME 1 (OMIM:229200)
Gene: ZNF469
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: Ehlers-Danlos syndrome type 6B; Brittle cornea syndrome (ORPHA:90354)
Gene: ZNF469
Phenotype: Soft skin (HP:0000977)
Associated disease: Ehlers-Danlos syndrome type 6B; Brittle cornea syndrome (ORPHA:90354)
Gene: ZNF469
Phenotype: Hyperextensible skin (HP:0000974)
Associated disease: Ehlers-Danlos syndrome type 6B; Brittle cornea syndrome (ORPHA:90354)
Gene: ZNF469
Phenotype: Atypical scarring of skin (HP:0000987)
Associated disease: BRITTLE CORNEA SYNDROME 1 (OMIM:229200)
Gene: ZNF469
Phenotype: Osteoporosis (HP:0000939)
Associated disease: Ehlers-Danlos syndrome type 6B; Brittle cornea syndrome (ORPHA:90354)
Gene: ZNF469
Phenotype: Epicanthus (HP:0000286)
Associated disease: BRITTLE CORNEA SYNDROME 1 (OMIM:229200)
Gene: ZNF469
Phenotype: Macrocephaly (HP:0000256)
Associated disease: BRITTLE CORNEA SYNDROME 1 (OMIM:229200)
Gene: ZNF469
Phenotype: Disproportionate tall stature (HP:0001519)
Associated disease: BRITTLE CORNEA SYNDROME 1 (OMIM:229200)
Gene: ZNF469
Phenotype: Camptodactyly (HP:0012385)
Associated disease: Ehlers-Danlos syndrome type 6B; Brittle cornea syndrome (ORPHA:90354)
Gene: ZNF469
Phenotype: Hearing impairment (HP:0000365)
Associated disease: BRITTLE CORNEA SYNDROME 1 (OMIM:229200)
Gene: ZNF469
Phenotype: High myopia (HP:0011003)
Associated disease: Ehlers-Danlos syndrome type 6B; Brittle cornea syndrome (ORPHA:90354)
Gene: ZNF469
Phenotype: Pulmonic stenosis (HP:0001642)
Associated disease: Ehlers-Danlos syndrome type 6B; Brittle cornea syndrome (ORPHA:90354)
Gene: ZNF469
Phenotype: Mitral valve prolapse (HP:0001634)
Associated disease: BRITTLE CORNEA SYNDROME 1 (OMIM:229200)
Gene: ZNF469
Phenotype: Mitral valve prolapse (HP:0001634)
Associated disease: Ehlers-Danlos syndrome type 6B; Brittle cornea syndrome (ORPHA:90354)
Gene: ZNF469
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Ehlers-Danlos syndrome type 6B; Brittle cornea syndrome (ORPHA:90354)
Gene: ZNF469
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Ehlers-Danlos syndrome type 6B; Brittle cornea syndrome (ORPHA:90354)
Gene: ZNF469
Phenotype: Abnormal cornea morphology (HP:0000481)
Associated disease: BRITTLE CORNEA SYNDROME 1 (OMIM:229200)
Gene: ZNF469
Phenotype: Pes planus (HP:0001763)
Associated disease: Ehlers-Danlos syndrome type 6B; Brittle cornea syndrome (ORPHA:90354)
Gene: ZNF469
Phenotype: Hallux valgus (HP:0001822)
Associated disease: Ehlers-Danlos syndrome type 6B; Brittle cornea syndrome (ORPHA:90354)
Gene: ZNF469
Phenotype: Glaucoma (HP:0000501)
Associated disease: Ehlers-Danlos syndrome type 6B; Brittle cornea syndrome (ORPHA:90354)
Gene: ZNF469
Phenotype: Blue sclerae (HP:0000592)
Associated disease: BRITTLE CORNEA SYNDROME 1 (OMIM:229200)
Gene: ZNF469
Phenotype: Blue sclerae (HP:0000592)
Associated disease: Ehlers-Danlos syndrome type 6B; Brittle cornea syndrome (ORPHA:90354)
Gene: ZNF469
Phenotype: Keratoconus (HP:0000563)
Associated disease: BRITTLE CORNEA SYNDROME 1 (OMIM:229200)
Gene: ZNF469
Phenotype: Corneal scarring (HP:0000559)
Associated disease: Ehlers-Danlos syndrome type 6B; Brittle cornea syndrome (ORPHA:90354)
Gene: ZNF469
Phenotype: Visual loss (HP:0000572)
Associated disease: BRITTLE CORNEA SYNDROME 1 (OMIM:229200)
Gene: ZNF469
Phenotype: Visual loss (HP:0000572)
Associated disease: Ehlers-Danlos syndrome type 6B; Brittle cornea syndrome (ORPHA:90354)
Gene: ZNF469
Phenotype: Retinal detachment (HP:0000541)
Associated disease: Ehlers-Danlos syndrome type 6B; Brittle cornea syndrome (ORPHA:90354)
Gene: ZNF469
Phenotype: Myopia (HP:0000545)
Associated disease: BRITTLE CORNEA SYNDROME 1 (OMIM:229200)
Gene: NTNG2
Phenotype: Bruxism (HP:0003763)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA (OMIM:618718)
Gene: NTNG2
Phenotype: Motor delay (HP:0001270)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA (OMIM:618718)
Gene: NTNG2
Phenotype: Seizure (HP:0001250)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA (OMIM:618718)
Gene: NTNG2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA (OMIM:618718)
Gene: NTNG2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA (OMIM:618718)
Gene: NTNG2
Phenotype: Spasticity (HP:0001257)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA (OMIM:618718)
Gene: NTNG2
Phenotype: Inability to walk (HP:0002540)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA (OMIM:618718)
Gene: NTNG2
Phenotype: Muscle weakness (HP:0001324)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA (OMIM:618718)