TaoMedAI/RareMedData huggingface dataset:
Gene: PUF60
Phenotype: Preaxial hand polydactyly (HP:0001177)
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: Abnormality of the hand (HP:0001155)
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: Abnormality of the hand (HP:0001155)
Associated disease: 8q24.3 microdeletion syndrome; Del(8)(q24.3); Monosomy 8q24.3; Deletion 8q24.3 (ORPHA:508488)
Gene: PUF60
Phenotype: Expressive language delay (HP:0002474)
Associated disease: 8q24.3 microdeletion syndrome; Del(8)(q24.3); Monosomy 8q24.3; Deletion 8q24.3 (ORPHA:508488)
Gene: PUF60
Phenotype: Spina bifida (HP:0002414)
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: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PUF60
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PUF60
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: 8q24.3 microdeletion syndrome; Del(8)(q24.3); Monosomy 8q24.3; Deletion 8q24.3 (ORPHA:508488)
Gene: PUF60
Phenotype: Long fingers (HP:0100807)
Associated disease: 8q24.3 microdeletion syndrome; Del(8)(q24.3); Monosomy 8q24.3; Deletion 8q24.3 (ORPHA:508488)
Gene: PUF60
Phenotype: Agenesis of corpus callosum (HP:0001274)
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: Seizure (HP:0001250)
Associated disease: VERHEIJ SYNDROME (OMIM:615583)
Gene: PUF60
Phenotype: Seizure (HP:0001250)
Associated disease: 8q24.3 microdeletion syndrome; Del(8)(q24.3); Monosomy 8q24.3; Deletion 8q24.3 (ORPHA:508488)
Gene: PUF60
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PUF60
Phenotype: Intellectual disability (HP:0001249)
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: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PUF60
Phenotype: Global developmental delay (HP:0001263)
Associated disease: VERHEIJ SYNDROME (OMIM:615583)
Gene: PUF60
Phenotype: Global developmental delay (HP:0001263)
Associated disease: 8q24.3 microdeletion syndrome; Del(8)(q24.3); Monosomy 8q24.3; Deletion 8q24.3 (ORPHA:508488)
Gene: PUF60
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PUF60
Phenotype: Broad phalanx (HP:0006009)
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: Duplication of phalanx of hand (HP:0009997)
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: Highly arched eyebrow (HP:0002553)
Associated disease: 8q24.3 microdeletion syndrome; Del(8)(q24.3); Monosomy 8q24.3; Deletion 8q24.3 (ORPHA:508488)
Gene: PUF60
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PUF60
Phenotype: Shoulder subluxation (HP:0003835)
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: Renal hypoplasia (HP:0000089)
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: Renal hypoplasia (HP:0000089)
Associated disease: VERHEIJ SYNDROME (OMIM:615583)
Gene: PUF60
Phenotype: Horseshoe kidney (HP:0000085)
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: Abnormality of the kidney (HP:0000077)
Associated disease: 8q24.3 microdeletion syndrome; Del(8)(q24.3); Monosomy 8q24.3; Deletion 8q24.3 (ORPHA:508488)
Gene: PUF60
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: 8q24.3 microdeletion syndrome; Del(8)(q24.3); Monosomy 8q24.3; Deletion 8q24.3 (ORPHA:508488)
Gene: PUF60
Phenotype: Congenital hip dislocation (HP:0001374)
Associated disease: 8q24.3 microdeletion syndrome; Del(8)(q24.3); Monosomy 8q24.3; Deletion 8q24.3 (ORPHA:508488)
Gene: PUF60
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: 8q24.3 microdeletion syndrome; Del(8)(q24.3); Monosomy 8q24.3; Deletion 8q24.3 (ORPHA:508488)
Gene: PUF60
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: 8q24.3 microdeletion syndrome; Del(8)(q24.3); Monosomy 8q24.3; Deletion 8q24.3 (ORPHA:508488)
Gene: PUF60
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PUF60
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: VERHEIJ SYNDROME (OMIM:615583)
Gene: PUF60
Phenotype: Hypospadias (HP:0000047)
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: Inguinal hernia (HP:0000023)
Associated disease: 8q24.3 microdeletion syndrome; Del(8)(q24.3); Monosomy 8q24.3; Deletion 8q24.3 (ORPHA:508488)
Gene: PUF60
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PUF60
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PUF60
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: 8q24.3 microdeletion syndrome; Del(8)(q24.3); Monosomy 8q24.3; Deletion 8q24.3 (ORPHA:508488)
Gene: PUF60
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PUF60
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PUF60
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PUF60
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PUF60
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PUF60
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: VERHEIJ SYNDROME (OMIM:615583)
Gene: PUF60
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PUF60
Phenotype: Scoliosis (HP:0002650)
Associated disease: VERHEIJ SYNDROME (OMIM:615583)
Gene: PUF60
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PUF60
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PUF60
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PUF60
Phenotype: Cervical hemivertebrae (HP:0025481)
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: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PUF60
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PUF60
Phenotype: Cleft palate (HP:0000175)
Associated disease: VERHEIJ SYNDROME (OMIM:615583)
Gene: PUF60
Phenotype: Unilateral ptosis (HP:0007687)
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: Reduced visual acuity (HP:0007663)
Associated disease: 8q24.3 microdeletion syndrome; Del(8)(q24.3); Monosomy 8q24.3; Deletion 8q24.3 (ORPHA:508488)
Gene: PUF60
Phenotype: Bilateral microphthalmos (HP:0007633)
Associated disease: 8q24.3 microdeletion syndrome; Del(8)(q24.3); Monosomy 8q24.3; Deletion 8q24.3 (ORPHA:508488)
Gene: PUF60
Phenotype: Unilateral renal agenesis (HP:0000122)
Associated disease: 8q24.3 microdeletion syndrome; Del(8)(q24.3); Monosomy 8q24.3; Deletion 8q24.3 (ORPHA:508488)
Gene: PUF60
Phenotype: Pelvic kidney (HP:0000125)
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: Pelvic kidney (HP:0000125)
Associated disease: 8q24.3 microdeletion syndrome; Del(8)(q24.3); Monosomy 8q24.3; Deletion 8q24.3 (ORPHA:508488)
Gene: PUF60
Phenotype: Generalized joint hypermobility (HP:0002761)
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: Renal cyst (HP:0000107)
Associated disease: VERHEIJ SYNDROME (OMIM:615583)
Gene: PUF60
Phenotype: Renal agenesis (HP:0000104)
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: Renal agenesis (HP:0000104)
Associated disease: VERHEIJ SYNDROME (OMIM:615583)
Gene: PUF60
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: 8q24.3 microdeletion syndrome; Del(8)(q24.3); Monosomy 8q24.3; Deletion 8q24.3 (ORPHA:508488)
Gene: PUF60
Phenotype: 2-3 toe syndactyly (HP:0004691)
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: Dysphagia (HP:0002015)
Associated disease: 8q24.3 microdeletion syndrome; Del(8)(q24.3); Monosomy 8q24.3; Deletion 8q24.3 (ORPHA:508488)
Gene: PUF60
Phenotype: Respiratory distress (HP:0002098)
Associated disease: 8q24.3 microdeletion syndrome; Del(8)(q24.3); Monosomy 8q24.3; Deletion 8q24.3 (ORPHA:508488)
Gene: PUF60
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
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: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: 8q24.3 microdeletion syndrome; Del(8)(q24.3); Monosomy 8q24.3; Deletion 8q24.3 (ORPHA:508488)
Gene: PUF60
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: VERHEIJ SYNDROME (OMIM:615583)
Gene: PUF60
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PUF60
Phenotype: Ectopic posterior pituitary (HP:0011755)
Associated disease: 8q24.3 microdeletion syndrome; Del(8)(q24.3); Monosomy 8q24.3; Deletion 8q24.3 (ORPHA:508488)
Gene: PUF60
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PUF60
Phenotype: Ventriculomegaly (HP:0002119)
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: Abnormal lung lobation (HP:0002101)
Associated disease: 8q24.3 microdeletion syndrome; Del(8)(q24.3); Monosomy 8q24.3; Deletion 8q24.3 (ORPHA:508488)
Gene: PUF60
Phenotype: Skin tags (HP:0010609)
Associated disease: 8q24.3 microdeletion syndrome; Del(8)(q24.3); Monosomy 8q24.3; Deletion 8q24.3 (ORPHA:508488)
Gene: PUF60
Phenotype: Echolalia (HP:0010529)
Associated disease: 8q24.3 microdeletion syndrome; Del(8)(q24.3); Monosomy 8q24.3; Deletion 8q24.3 (ORPHA:508488)
Gene: PUF60
Phenotype: Long toe (HP:0010511)
Associated disease: 8q24.3 microdeletion syndrome; Del(8)(q24.3); Monosomy 8q24.3; Deletion 8q24.3 (ORPHA:508488)
Gene: PUF60
Phenotype: Abnormal skeletal morphology (HP:0011842)
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: Congenital onset (HP:0003577)
Associated disease: VERHEIJ SYNDROME (OMIM:615583)
Gene: PUF60
Phenotype: Gastrointestinal hemorrhage (HP:0002239)
Associated disease: 8q24.3 microdeletion syndrome; Del(8)(q24.3); Monosomy 8q24.3; Deletion 8q24.3 (ORPHA:508488)
Gene: PUF60
Phenotype: Asymmetry of the ears (HP:0010722)
Associated disease: 8q24.3 microdeletion syndrome; Del(8)(q24.3); Monosomy 8q24.3; Deletion 8q24.3 (ORPHA:508488)
Gene: PUF60
Phenotype: Global brain atrophy (HP:0002283)
Associated disease: 8q24.3 microdeletion syndrome; Del(8)(q24.3); Monosomy 8q24.3; Deletion 8q24.3 (ORPHA:508488)
Gene: PUF60
Phenotype: Feeding difficulties (HP:0011968)
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: Feeding difficulties (HP:0011968)
Associated disease: VERHEIJ SYNDROME (OMIM:615583)
Gene: PUF60
Phenotype: Facial palsy (HP:0010628)
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: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PUF60
Phenotype: Nevus flammeus (HP:0001052)
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: Sleep abnormality (HP:0002360)
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: Intellectual disability, moderate (HP:0002342)
Associated disease: 8q24.3 microdeletion syndrome; Del(8)(q24.3); Monosomy 8q24.3; Deletion 8q24.3 (ORPHA:508488)
Gene: PUF60
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PUF60
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PUF60
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PUF60
Phenotype: Branchial cyst (HP:0009796)
Associated disease: 8q24.3 microdeletion syndrome; Del(8)(q24.3); Monosomy 8q24.3; Deletion 8q24.3 (ORPHA:508488)
Gene: PUF60
Phenotype: Branchial cyst (HP:0009796)
Associated disease: VERHEIJ SYNDROME (OMIM:615583)
Gene: PUF60
Phenotype: Thoracic hemivertebrae (HP:0008467)
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: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PUF60
Phenotype: Naevus flammeus of the eyelid (HP:0010733)
Associated disease: 8q24.3 microdeletion syndrome; Del(8)(q24.3); Monosomy 8q24.3; Deletion 8q24.3 (ORPHA:508488)
Gene: PUF60
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PUF60
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PUF60
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
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: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: 8q24.3 microdeletion syndrome; Del(8)(q24.3); Monosomy 8q24.3; Deletion 8q24.3 (ORPHA:508488)
Gene: PUF60
Phenotype: Short palm (HP:0004279)
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 middle phalanx of the 5th finger (HP:0004220)
Associated disease: 8q24.3 microdeletion syndrome; Del(8)(q24.3); Monosomy 8q24.3; Deletion 8q24.3 (ORPHA:508488)
Gene: PUF60
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PUF60
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PUF60
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PUF60
Phenotype: Amblyopia (HP:0000646)
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: Iris coloboma (HP:0000612)
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: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PUF60
Phenotype: Optic nerve hypoplasia (HP:0000609)
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: Optic nerve hypoplasia (HP:0000609)
Associated disease: 8q24.3 microdeletion syndrome; Del(8)(q24.3); Monosomy 8q24.3; Deletion 8q24.3 (ORPHA:508488)
Gene: PUF60
Phenotype: Optic nerve hypoplasia (HP:0000609)
Associated disease: VERHEIJ SYNDROME (OMIM:615583)
Gene: PUF60
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PUF60
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PUF60
Phenotype: Broad hallux (HP:0010055)
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: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PUF60
Phenotype: Hemifacial hypoplasia (HP:0011332)
Associated disease: 8q24.3 microdeletion syndrome; Del(8)(q24.3); Monosomy 8q24.3; Deletion 8q24.3 (ORPHA:508488)
Gene: PUF60
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PUF60
Phenotype: Broad thumb (HP:0011304)
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: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PUF60
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PUF60
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PUF60
Phenotype: Short stature (HP:0004322)
Associated disease: VERHEIJ SYNDROME (OMIM:615583)
Gene: PUF60
Phenotype: Short stature (HP:0004322)
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 stature (HP:0004322)
Associated disease: 8q24.3 microdeletion syndrome; Del(8)(q24.3); Monosomy 8q24.3; Deletion 8q24.3 (ORPHA:508488)
Gene: PUF60
Phenotype: Periventricular leukomalacia (HP:0006970)
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: Hypermobility of interphalangeal joints (HP:0005620)
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: Abnormal cardiovascular system morphology (HP:0030680)
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: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PUF60
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PUF60
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PUF60
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PUF60
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PUF60
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PUF60
Phenotype: Short palpebral fissure (HP:0012745)
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: Hyperactivity (HP:0000752)
Associated disease: 8q24.3 microdeletion syndrome; Del(8)(q24.3); Monosomy 8q24.3; Deletion 8q24.3 (ORPHA:508488)
Gene: PUF60
Phenotype: Infancy onset short-trunk short stature (HP:0011406)
Associated disease: 8q24.3 microdeletion syndrome; Del(8)(q24.3); Monosomy 8q24.3; Deletion 8q24.3 (ORPHA:508488)
Gene: PUF60
Phenotype: Pectus excavatum (HP:0000767)
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: Pectus excavatum (HP:0000767)
Associated disease: 8q24.3 microdeletion syndrome; Del(8)(q24.3); Monosomy 8q24.3; Deletion 8q24.3 (ORPHA:508488)