TaoMedAI/RareMedData huggingface dataset:
Gene: PUF60
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PUF60
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PUF60
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PUF60
Phenotype: Tics (HP:0100033)
Associated disease: 8q24.3 microdeletion syndrome; Del(8)(q24.3); Monosomy 8q24.3; Deletion 8q24.3 (ORPHA:508488)
Gene: PUF60
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome; Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome due to mutation in PUF60 gene (ORPHA:508498)
Gene: PUF60
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PUF60
Phenotype: Low frustration tolerance (HP:0000744)
Associated disease: 8q24.3 microdeletion syndrome; Del(8)(q24.3); Monosomy 8q24.3; Deletion 8q24.3 (ORPHA:508488)
Gene: PUF60
Phenotype: Autistic behavior (HP:0000729)
Associated disease: Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome; Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome due to mutation in PUF60 gene (ORPHA:508498)
Gene: PUF60
Phenotype: Autistic behavior (HP:0000729)
Associated disease: 8q24.3 microdeletion syndrome; Del(8)(q24.3); Monosomy 8q24.3; Deletion 8q24.3 (ORPHA:508488)
Gene: PUF60
Phenotype: Nasogastric tube feeding in infancy (HP:0011470)
Associated disease: 8q24.3 microdeletion syndrome; Del(8)(q24.3); Monosomy 8q24.3; Deletion 8q24.3 (ORPHA:508488)
Gene: PUF60
Phenotype: Abnormal optic disc morphology (HP:0012795)
Associated disease: Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome; Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome due to mutation in PUF60 gene (ORPHA:508498)
Gene: PUF60
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PUF60
Phenotype: Short hallux (HP:0010109)
Associated disease: 8q24.3 microdeletion syndrome; Del(8)(q24.3); Monosomy 8q24.3; Deletion 8q24.3 (ORPHA:508488)
Gene: PUF60
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PUF60
Phenotype: Narrow chest (HP:0000774)
Associated disease: 8q24.3 microdeletion syndrome; Del(8)(q24.3); Monosomy 8q24.3; Deletion 8q24.3 (ORPHA:508488)
Gene: PUF60
Phenotype: Short nose (HP:0003196)
Associated disease: VERHEIJ SYNDROME (OMIM:615583)
Gene: PUF60
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PUF60
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PUF60
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PUF60
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PUF60
Phenotype: Cervical ribs (HP:0000891)
Associated disease: 8q24.3 microdeletion syndrome; Del(8)(q24.3); Monosomy 8q24.3; Deletion 8q24.3 (ORPHA:508488)
Gene: PUF60
Phenotype: Short femur (HP:0003097)
Associated disease: 8q24.3 microdeletion syndrome; Del(8)(q24.3); Monosomy 8q24.3; Deletion 8q24.3 (ORPHA:508488)
Gene: PUF60
Phenotype: Reduced eye contact (HP:0000817)
Associated disease: 8q24.3 microdeletion syndrome; Del(8)(q24.3); Monosomy 8q24.3; Deletion 8q24.3 (ORPHA:508488)
Gene: PUF60
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PUF60
Phenotype: Cleft maxillary alveolar ridge (HP:0010289)
Associated disease: 8q24.3 microdeletion syndrome; Del(8)(q24.3); Monosomy 8q24.3; Deletion 8q24.3 (ORPHA:508488)
Gene: PUF60
Phenotype: Finger clinodactyly (HP:0040019)
Associated disease: 8q24.3 microdeletion syndrome; Del(8)(q24.3); Monosomy 8q24.3; Deletion 8q24.3 (ORPHA:508488)
Gene: PUF60
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PUF60
Phenotype: Short 5th finger (HP:0009237)
Associated disease: Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome; Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome due to mutation in PUF60 gene (ORPHA:508498)
Gene: PUF60
Phenotype: Short 5th finger (HP:0009237)
Associated disease: 8q24.3 microdeletion syndrome; Del(8)(q24.3); Monosomy 8q24.3; Deletion 8q24.3 (ORPHA:508488)
Gene: PUF60
Phenotype: Short 5th finger (HP:0009237)
Associated disease: VERHEIJ SYNDROME (OMIM:615583)
Gene: PUF60
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PUF60
Phenotype: Spina bifida occulta (HP:0003298)
Associated disease: 8q24.3 microdeletion syndrome; Del(8)(q24.3); Monosomy 8q24.3; Deletion 8q24.3 (ORPHA:508488)
Gene: PUF60
Phenotype: Hypertrichosis (HP:0000998)
Associated disease: Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome; Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome due to mutation in PUF60 gene (ORPHA:508498)
Gene: PUF60
Phenotype: Hyperextensible skin (HP:0000974)
Associated disease: Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome; Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome due to mutation in PUF60 gene (ORPHA:508498)
Gene: PUF60
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PUF60
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: 8q24.3 microdeletion syndrome; Del(8)(q24.3); Monosomy 8q24.3; Deletion 8q24.3 (ORPHA:508488)
Gene: PUF60
Phenotype: Pes valgus (HP:0008081)
Associated disease: 8q24.3 microdeletion syndrome; Del(8)(q24.3); Monosomy 8q24.3; Deletion 8q24.3 (ORPHA:508488)
Gene: PUF60
Phenotype: Perimembranous ventricular septal defect (HP:0011682)
Associated disease: Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome; Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome due to mutation in PUF60 gene (ORPHA:508498)
Gene: PUF60
Phenotype: Epicanthus (HP:0000286)
Associated disease: 8q24.3 microdeletion syndrome; Del(8)(q24.3); Monosomy 8q24.3; Deletion 8q24.3 (ORPHA:508488)
Gene: PUF60
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PUF60
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PUF60
Phenotype: Retrognathia (HP:0000278)
Associated disease: VERHEIJ SYNDROME (OMIM:615583)
Gene: PUF60
Phenotype: Full cheeks (HP:0000293)
Associated disease: 8q24.3 microdeletion syndrome; Del(8)(q24.3); Monosomy 8q24.3; Deletion 8q24.3 (ORPHA:508488)
Gene: PUF60
Phenotype: Full cheeks (HP:0000293)
Associated disease: VERHEIJ SYNDROME (OMIM:615583)
Gene: PUF60
Phenotype: Hip dislocation (HP:0002827)
Associated disease: Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome; Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome due to mutation in PUF60 gene (ORPHA:508498)
Gene: PUF60
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PUF60
Phenotype: Hip dislocation (HP:0002827)
Associated disease: VERHEIJ SYNDROME (OMIM:615583)
Gene: PUF60
Phenotype: Clinodactyly (HP:0030084)
Associated disease: VERHEIJ SYNDROME (OMIM:615583)
Gene: PUF60
Phenotype: Microcephaly (HP:0000252)
Associated disease: VERHEIJ SYNDROME (OMIM:615583)
Gene: PUF60
Phenotype: Microcephaly (HP:0000252)
Associated disease: Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome; Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome due to mutation in PUF60 gene (ORPHA:508498)
Gene: PUF60
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PUF60
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome; Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome due to mutation in PUF60 gene (ORPHA:508498)
Gene: PUF60
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: 8q24.3 microdeletion syndrome; Del(8)(q24.3); Monosomy 8q24.3; Deletion 8q24.3 (ORPHA:508488)
Gene: PUF60
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: VERHEIJ SYNDROME (OMIM:615583)
Gene: PUF60
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: 8q24.3 microdeletion syndrome; Del(8)(q24.3); Monosomy 8q24.3; Deletion 8q24.3 (ORPHA:508488)
Gene: PUF60
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PUF60
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PUF60
Phenotype: Small for gestational age (HP:0001518)
Associated disease: 8q24.3 microdeletion syndrome; Del(8)(q24.3); Monosomy 8q24.3; Deletion 8q24.3 (ORPHA:508488)
Gene: PUF60
Phenotype: Small for gestational age (HP:0001518)
Associated disease: VERHEIJ SYNDROME (OMIM:615583)
Gene: PUF60
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: 8q24.3 microdeletion syndrome; Del(8)(q24.3); Monosomy 8q24.3; Deletion 8q24.3 (ORPHA:508488)
Gene: PUF60
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PUF60
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: VERHEIJ SYNDROME (OMIM:615583)
Gene: PUF60
Phenotype: Growth delay (HP:0001510)
Associated disease: VERHEIJ SYNDROME (OMIM:615583)
Gene: PUF60
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PUF60
Phenotype: Mesiodens (HP:0011067)
Associated disease: 8q24.3 microdeletion syndrome; Del(8)(q24.3); Monosomy 8q24.3; Deletion 8q24.3 (ORPHA:508488)
Gene: PUF60
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PUF60
Phenotype: Almond-shaped palpebral fissure (HP:0007874)
Associated disease: Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome; Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome due to mutation in PUF60 gene (ORPHA:508498)
Gene: PUF60
Phenotype: Hemivertebrae (HP:0002937)
Associated disease: VERHEIJ SYNDROME (OMIM:615583)
Gene: PUF60
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PUF60
Phenotype: Vertebral fusion (HP:0002948)
Associated disease: VERHEIJ SYNDROME (OMIM:615583)
Gene: PUF60
Phenotype: Fused cervical vertebrae (HP:0002949)
Associated disease: Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome; Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome due to mutation in PUF60 gene (ORPHA:508498)
Gene: PUF60
Phenotype: Thoracic kyphosis (HP:0002942)
Associated disease: Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome; Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome due to mutation in PUF60 gene (ORPHA:508498)
Gene: PUF60
Phenotype: Thoracic scoliosis (HP:0002943)
Associated disease: Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome; Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome due to mutation in PUF60 gene (ORPHA:508498)
Gene: PUF60
Phenotype: Thoracic scoliosis (HP:0002943)
Associated disease: 8q24.3 microdeletion syndrome; Del(8)(q24.3); Monosomy 8q24.3; Deletion 8q24.3 (ORPHA:508488)
Gene: PUF60
Phenotype: Dysplastic aortic valve (HP:0005176)
Associated disease: 8q24.3 microdeletion syndrome; Del(8)(q24.3); Monosomy 8q24.3; Deletion 8q24.3 (ORPHA:508488)
Gene: PUF60
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome; Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome due to mutation in PUF60 gene (ORPHA:508498)
Gene: PUF60
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PUF60
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: 8q24.3 microdeletion syndrome; Del(8)(q24.3); Monosomy 8q24.3; Deletion 8q24.3 (ORPHA:508488)
Gene: PUF60
Phenotype: Narrow forehead (HP:0000341)
Associated disease: 8q24.3 microdeletion syndrome; Del(8)(q24.3); Monosomy 8q24.3; Deletion 8q24.3 (ORPHA:508488)
Gene: PUF60
Phenotype: Narrow forehead (HP:0000341)
Associated disease: VERHEIJ SYNDROME (OMIM:615583)
Gene: PUF60
Phenotype: Complete atrioventricular canal defect (HP:0001674)
Associated disease: 8q24.3 microdeletion syndrome; Del(8)(q24.3); Monosomy 8q24.3; Deletion 8q24.3 (ORPHA:508488)
Gene: PUF60
Phenotype: Long philtrum (HP:0000343)
Associated disease: Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome; Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome due to mutation in PUF60 gene (ORPHA:508498)
Gene: PUF60
Phenotype: Long philtrum (HP:0000343)
Associated disease: 8q24.3 microdeletion syndrome; Del(8)(q24.3); Monosomy 8q24.3; Deletion 8q24.3 (ORPHA:508488)
Gene: PUF60
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PUF60
Phenotype: Long philtrum (HP:0000343)
Associated disease: VERHEIJ SYNDROME (OMIM:615583)
Gene: PUF60
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PUF60
Phenotype: Coarctation of aorta (HP:0001680)
Associated disease: Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome; Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome due to mutation in PUF60 gene (ORPHA:508498)
Gene: PUF60
Phenotype: Coarctation of aorta (HP:0001680)
Associated disease: 8q24.3 microdeletion syndrome; Del(8)(q24.3); Monosomy 8q24.3; Deletion 8q24.3 (ORPHA:508488)
Gene: PUF60
Phenotype: Micrognathia (HP:0000347)
Associated disease: Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome; Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome due to mutation in PUF60 gene (ORPHA:508498)
Gene: PUF60
Phenotype: Micromelia (HP:0002983)
Associated disease: 8q24.3 microdeletion syndrome; Del(8)(q24.3); Monosomy 8q24.3; Deletion 8q24.3 (ORPHA:508488)
Gene: PUF60
Phenotype: Square face (HP:0000321)
Associated disease: 8q24.3 microdeletion syndrome; Del(8)(q24.3); Monosomy 8q24.3; Deletion 8q24.3 (ORPHA:508488)
Gene: PUF60
Phenotype: Square face (HP:0000321)
Associated disease: VERHEIJ SYNDROME (OMIM:615583)
Gene: PUF60
Phenotype: Hypoplastic aortic arch (HP:0012304)
Associated disease: 8q24.3 microdeletion syndrome; Del(8)(q24.3); Monosomy 8q24.3; Deletion 8q24.3 (ORPHA:508488)
Gene: PUF60
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: 8q24.3 microdeletion syndrome; Del(8)(q24.3); Monosomy 8q24.3; Deletion 8q24.3 (ORPHA:508488)
Gene: PUF60
Phenotype: Bicuspid aortic valve (HP:0001647)
Associated disease: Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome; Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome due to mutation in PUF60 gene (ORPHA:508498)
Gene: PUF60
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: 8q24.3 microdeletion syndrome; Del(8)(q24.3); Monosomy 8q24.3; Deletion 8q24.3 (ORPHA:508488)
Gene: PUF60
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PUF60
Phenotype: Truncus arteriosus (HP:0001660)
Associated disease: Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome; Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome due to mutation in PUF60 gene (ORPHA:508498)
Gene: PUF60
Phenotype: Truncus arteriosus (HP:0001660)
Associated disease: 8q24.3 microdeletion syndrome; Del(8)(q24.3); Monosomy 8q24.3; Deletion 8q24.3 (ORPHA:508488)
Gene: PUF60
Phenotype: Truncus arteriosus (HP:0001660)
Associated disease: VERHEIJ SYNDROME (OMIM:615583)
Gene: PUF60
Phenotype: Aortic regurgitation (HP:0001659)
Associated disease: Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome; Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome due to mutation in PUF60 gene (ORPHA:508498)
Gene: PUF60
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome; Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome due to mutation in PUF60 gene (ORPHA:508498)
Gene: PUF60
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: 8q24.3 microdeletion syndrome; Del(8)(q24.3); Monosomy 8q24.3; Deletion 8q24.3 (ORPHA:508488)
Gene: PUF60
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: VERHEIJ SYNDROME (OMIM:615583)
Gene: PUF60
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: 8q24.3 microdeletion syndrome; Del(8)(q24.3); Monosomy 8q24.3; Deletion 8q24.3 (ORPHA:508488)
Gene: PUF60
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PUF60
Phenotype: Microretrognathia (HP:0000308)
Associated disease: Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome; Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome due to mutation in PUF60 gene (ORPHA:508498)
Gene: PUF60
Phenotype: Microretrognathia (HP:0000308)
Associated disease: 8q24.3 microdeletion syndrome; Del(8)(q24.3); Monosomy 8q24.3; Deletion 8q24.3 (ORPHA:508488)
Gene: PUF60
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome; Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome due to mutation in PUF60 gene (ORPHA:508498)
Gene: PUF60
Phenotype: Oval face (HP:0000300)
Associated disease: 8q24.3 microdeletion syndrome; Del(8)(q24.3); Monosomy 8q24.3; Deletion 8q24.3 (ORPHA:508488)
Gene: PUF60
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PUF60
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome; Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome due to mutation in PUF60 gene (ORPHA:508498)
Gene: PUF60
Phenotype: Cerebellopontine angle arachnoid cyst (HP:0012487)
Associated disease: Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome; Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome due to mutation in PUF60 gene (ORPHA:508498)
Gene: PUF60
Phenotype: Atrioventricular canal defect (HP:0006695)
Associated disease: Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome; Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome due to mutation in PUF60 gene (ORPHA:508498)
Gene: PUF60
Phenotype: Atrioventricular canal defect (HP:0006695)
Associated disease: 8q24.3 microdeletion syndrome; Del(8)(q24.3); Monosomy 8q24.3; Deletion 8q24.3 (ORPHA:508488)
Gene: PUF60
Phenotype: Capillary hemangioma (HP:0005306)
Associated disease: 8q24.3 microdeletion syndrome; Del(8)(q24.3); Monosomy 8q24.3; Deletion 8q24.3 (ORPHA:508488)
Gene: PUF60
Phenotype: Exocrine pancreatic insufficiency (HP:0001738)
Associated disease: Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome; Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome due to mutation in PUF60 gene (ORPHA:508498)
Gene: PUF60
Phenotype: Exocrine pancreatic insufficiency (HP:0001738)
Associated disease: 8q24.3 microdeletion syndrome; Del(8)(q24.3); Monosomy 8q24.3; Deletion 8q24.3 (ORPHA:508488)
Gene: PUF60
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PUF60
Phenotype: Strabismus (HP:0000486)
Associated disease: Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome; Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome due to mutation in PUF60 gene (ORPHA:508498)
Gene: PUF60
Phenotype: Strabismus (HP:0000486)
Associated disease: 8q24.3 microdeletion syndrome; Del(8)(q24.3); Monosomy 8q24.3; Deletion 8q24.3 (ORPHA:508488)
Gene: PUF60
Phenotype: Retinal coloboma (HP:0000480)
Associated disease: Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome; Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome due to mutation in PUF60 gene (ORPHA:508498)
Gene: PUF60
Phenotype: Retinal coloboma (HP:0000480)
Associated disease: 8q24.3 microdeletion syndrome; Del(8)(q24.3); Monosomy 8q24.3; Deletion 8q24.3 (ORPHA:508488)
Gene: PUF60
Phenotype: Deeply set eye (HP:0000490)
Associated disease: 8q24.3 microdeletion syndrome; Del(8)(q24.3); Monosomy 8q24.3; Deletion 8q24.3 (ORPHA:508488)
Gene: PUF60
Phenotype: Anteverted nares (HP:0000463)
Associated disease: 8q24.3 microdeletion syndrome; Del(8)(q24.3); Monosomy 8q24.3; Deletion 8q24.3 (ORPHA:508488)
Gene: PUF60
Phenotype: Anteverted nares (HP:0000463)
Associated disease: VERHEIJ SYNDROME (OMIM:615583)
Gene: PUF60
Phenotype: Broad nasal tip (HP:0000455)
Associated disease: 8q24.3 microdeletion syndrome; Del(8)(q24.3); Monosomy 8q24.3; Deletion 8q24.3 (ORPHA:508488)
Gene: PUF60
Phenotype: Broad nasal tip (HP:0000455)
Associated disease: VERHEIJ SYNDROME (OMIM:615583)
Gene: PUF60
Phenotype: Short neck (HP:0000470)
Associated disease: Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome; Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome due to mutation in PUF60 gene (ORPHA:508498)
Gene: PUF60
Phenotype: Short neck (HP:0000470)
Associated disease: 8q24.3 microdeletion syndrome; Del(8)(q24.3); Monosomy 8q24.3; Deletion 8q24.3 (ORPHA:508488)
Gene: PUF60
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PUF60
Phenotype: Short neck (HP:0000470)
Associated disease: VERHEIJ SYNDROME (OMIM:615583)
Gene: PUF60
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PUF60
Phenotype: Pes planus (HP:0001763)
Associated disease: Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome; Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome due to mutation in PUF60 gene (ORPHA:508498)
Gene: PUF60
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PUF60
Phenotype: Pes planus (HP:0001763)
Associated disease: 8q24.3 microdeletion syndrome; Del(8)(q24.3); Monosomy 8q24.3; Deletion 8q24.3 (ORPHA:508488)
Gene: PUF60
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome; Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome due to mutation in PUF60 gene (ORPHA:508498)
Gene: PUF60
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: 8q24.3 microdeletion syndrome; Del(8)(q24.3); Monosomy 8q24.3; Deletion 8q24.3 (ORPHA:508488)
Gene: PUF60
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: VERHEIJ SYNDROME (OMIM:615583)
Gene: PUF60
Phenotype: Aplasia/Hypoplasia of the ribs (HP:0006712)
Associated disease: Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome; Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome due to mutation in PUF60 gene (ORPHA:508498)
Gene: PUF60
Phenotype: Secondary microcephaly (HP:0005484)
Associated disease: 8q24.3 microdeletion syndrome; Del(8)(q24.3); Monosomy 8q24.3; Deletion 8q24.3 (ORPHA:508488)
Gene: PUF60
Phenotype: Abnormal cricoid cartilage morphology (HP:3000038)
Associated disease: 8q24.3 microdeletion syndrome; Del(8)(q24.3); Monosomy 8q24.3; Deletion 8q24.3 (ORPHA:508488)