TaoMedAI/RareMedData huggingface dataset:
Gene: KIAA0586
Phenotype: Aplasia/Hypoplasia of the corpus callosum (HP:0007370)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: KIAA0586
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: KIAA0586
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KIAA0586
Phenotype: Increased intracranial pressure (HP:0002516)
Associated disease: JBTS with JATD; Joubert syndrome with Jeune asphyxiating thoracic dystrophy; Joubert syndrome with JATD (ORPHA:397715)
Gene: KIAA0586
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: JBTS with JATD; Joubert syndrome with Jeune asphyxiating thoracic dystrophy; Joubert syndrome with JATD (ORPHA:397715)
Gene: KIAA0586
Phenotype: Micropenis (HP:0000054)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY (OMIM:616546)
Gene: KIAA0586
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIAA0586
Phenotype: Hypospadias (HP:0000047)
Associated disease: JBTS with JATD; Joubert syndrome with Jeune asphyxiating thoracic dystrophy; Joubert syndrome with JATD (ORPHA:397715)
Gene: KIAA0586
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KIAA0586
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIAA0586
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: KIAA0586
Phenotype: Early ossification of capital femoral epiphyses (HP:0008797)
Associated disease: JBTS with JATD; Joubert syndrome with Jeune asphyxiating thoracic dystrophy; Joubert syndrome with JATD (ORPHA:397715)
Gene: KIAA0586
Phenotype: Absent septum pellucidum (HP:0001331)
Associated disease: JBTS with JATD; Joubert syndrome with Jeune asphyxiating thoracic dystrophy; Joubert syndrome with JATD (ORPHA:397715)
Gene: KIAA0586
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIAA0586
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KIAA0586
Phenotype: Absent speech (HP:0001344)
Associated disease: JBTS with JATD; Joubert syndrome with Jeune asphyxiating thoracic dystrophy; Joubert syndrome with JATD (ORPHA:397715)
Gene: KIAA0586
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIAA0586
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY (OMIM:616546)
Gene: KIAA0586
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: JOUBERT SYNDROME 23 (OMIM:616490)
Gene: KIAA0586
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIAA0586
Phenotype: Tremor (HP:0001337)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: KIAA0586
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KIAA0586
Phenotype: Dandy-Walker malformation (HP:0001305)
Associated disease: JBTS with JATD; Joubert syndrome with Jeune asphyxiating thoracic dystrophy; Joubert syndrome with JATD (ORPHA:397715)
Gene: KIAA0586
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: JBTS with JATD; Joubert syndrome with Jeune asphyxiating thoracic dystrophy; Joubert syndrome with JATD (ORPHA:397715)
Gene: KIAA0586
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: KIAA0586
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY (OMIM:616546)
Gene: KIAA0586
Phenotype: Scoliosis (HP:0002650)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: KIAA0586
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KIAA0586
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: JBTS with JATD; Joubert syndrome with Jeune asphyxiating thoracic dystrophy; Joubert syndrome with JATD (ORPHA:397715)
Gene: KIAA0586
Phenotype: Abnormal cerebellum morphology (HP:0001317)
Associated disease: JBTS with JATD; Joubert syndrome with Jeune asphyxiating thoracic dystrophy; Joubert syndrome with JATD (ORPHA:397715)
Gene: KIAA0586
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIAA0586
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KIAA0586
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIAA0586
Phenotype: Aplasia of the olfactory bulb (HP:0032466)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY (OMIM:616546)
Gene: KIAA0586
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIAA0586
Phenotype: Accessory oral frenulum (HP:0000191)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY (OMIM:616546)
Gene: KIAA0586
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIAA0586
Phenotype: Cleft palate (HP:0000175)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY (OMIM:616546)
Gene: KIAA0586
Phenotype: Rhizomelic leg shortening (HP:0012106)
Associated disease: JBTS with JATD; Joubert syndrome with Jeune asphyxiating thoracic dystrophy; Joubert syndrome with JATD (ORPHA:397715)
Gene: KIAA0586
Phenotype: Polycystic kidney dysplasia (HP:0000113)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY (OMIM:616546)
Gene: KIAA0586
Phenotype: Abnormal pattern of respiration (HP:0002793)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: KIAA0586
Phenotype: Tachypnea (HP:0002789)
Associated disease: JBTS with JATD; Joubert syndrome with Jeune asphyxiating thoracic dystrophy; Joubert syndrome with JATD (ORPHA:397715)
Gene: KIAA0586
Phenotype: Tachypnea (HP:0002789)
Associated disease: JOUBERT SYNDROME 23 (OMIM:616490)
Gene: KIAA0586
Phenotype: Renal dysplasia (HP:0000110)
Associated disease: JBTS with JATD; Joubert syndrome with Jeune asphyxiating thoracic dystrophy; Joubert syndrome with JATD (ORPHA:397715)
Gene: KIAA0586
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: JBTS with JATD; Joubert syndrome with Jeune asphyxiating thoracic dystrophy; Joubert syndrome with JATD (ORPHA:397715)
Gene: KIAA0586
Phenotype: Redundant neck skin (HP:0005989)
Associated disease: JBTS with JATD; Joubert syndrome with Jeune asphyxiating thoracic dystrophy; Joubert syndrome with JATD (ORPHA:397715)
Gene: KIAA0586
Phenotype: Frontal bossing (HP:0002007)
Associated disease: JBTS with JATD; Joubert syndrome with Jeune asphyxiating thoracic dystrophy; Joubert syndrome with JATD (ORPHA:397715)
Gene: KIAA0586
Phenotype: Abnormal form of the vertebral bodies (HP:0003312)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: KIAA0586
Phenotype: Small cervical vertebral bodies (HP:0004629)
Associated disease: JBTS with JATD; Joubert syndrome with Jeune asphyxiating thoracic dystrophy; Joubert syndrome with JATD (ORPHA:397715)
Gene: KIAA0586
Phenotype: Hamartoma of tongue (HP:0011802)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY (OMIM:616546)
Gene: KIAA0586
Phenotype: Pulmonary hypoplasia (HP:0002089)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY (OMIM:616546)
Gene: KIAA0586
Phenotype: Occipital encephalocele (HP:0002085)
Associated disease: JBTS with JATD; Joubert syndrome with Jeune asphyxiating thoracic dystrophy; Joubert syndrome with JATD (ORPHA:397715)
Gene: KIAA0586
Phenotype: Encephalocele (HP:0002084)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: KIAA0586
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY (OMIM:616546)
Gene: KIAA0586
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KIAA0586
Phenotype: Polydactyly (HP:0010442)
Associated disease: JOUBERT SYNDROME 23 (OMIM:616490)
Gene: KIAA0586
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIAA0586
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: JBTS with JATD; Joubert syndrome with Jeune asphyxiating thoracic dystrophy; Joubert syndrome with JATD (ORPHA:397715)
Gene: KIAA0586
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY (OMIM:616546)
Gene: KIAA0586
Phenotype: Abnormal basal ganglia morphology (HP:0002134)
Associated disease: JBTS with JATD; Joubert syndrome with Jeune asphyxiating thoracic dystrophy; Joubert syndrome with JATD (ORPHA:397715)
Gene: KIAA0586
Phenotype: Polymicrogyria (HP:0002126)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: KIAA0586
Phenotype: Polymicrogyria (HP:0002126)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY (OMIM:616546)
Gene: KIAA0586
Phenotype: Recurrent aspiration pneumonia (HP:0002100)
Associated disease: JBTS with JATD; Joubert syndrome with Jeune asphyxiating thoracic dystrophy; Joubert syndrome with JATD (ORPHA:397715)
Gene: KIAA0586
Phenotype: Apnea (HP:0002104)
Associated disease: JBTS with JATD; Joubert syndrome with Jeune asphyxiating thoracic dystrophy; Joubert syndrome with JATD (ORPHA:397715)
Gene: KIAA0586
Phenotype: Apnea (HP:0002104)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: KIAA0586
Phenotype: Apnea (HP:0002104)
Associated disease: JOUBERT SYNDROME 23 (OMIM:616490)
Gene: KIAA0586
Phenotype: Proximal femoral metaphyseal irregularity (HP:0003411)
Associated disease: JBTS with JATD; Joubert syndrome with Jeune asphyxiating thoracic dystrophy; Joubert syndrome with JATD (ORPHA:397715)
Gene: KIAA0586
Phenotype: Elongated superior cerebellar peduncle (HP:0011933)
Associated disease: JBTS with JATD; Joubert syndrome with Jeune asphyxiating thoracic dystrophy; Joubert syndrome with JATD (ORPHA:397715)
Gene: KIAA0586
Phenotype: Short digit (HP:0011927)
Associated disease: JBTS with JATD; Joubert syndrome with Jeune asphyxiating thoracic dystrophy; Joubert syndrome with JATD (ORPHA:397715)
Gene: KIAA0586
Phenotype: Dysgenesis of the cerebellar vermis (HP:0002195)
Associated disease: JBTS with JATD; Joubert syndrome with Jeune asphyxiating thoracic dystrophy; Joubert syndrome with JATD (ORPHA:397715)
Gene: KIAA0586
Phenotype: Hyperechogenic kidneys (HP:0004719)
Associated disease: JBTS with JATD; Joubert syndrome with Jeune asphyxiating thoracic dystrophy; Joubert syndrome with JATD (ORPHA:397715)
Gene: KIAA0586
Phenotype: Cone-shaped epiphysis (HP:0010579)
Associated disease: JBTS with JATD; Joubert syndrome with Jeune asphyxiating thoracic dystrophy; Joubert syndrome with JATD (ORPHA:397715)
Gene: KIAA0586
Phenotype: Abnormality of neuronal migration (HP:0002269)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: KIAA0586
Phenotype: Congenital onset (HP:0003577)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY (OMIM:616546)
Gene: KIAA0586
Phenotype: Aganglionic megacolon (HP:0002251)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: KIAA0586
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: JBTS with JATD; Joubert syndrome with Jeune asphyxiating thoracic dystrophy; Joubert syndrome with JATD (ORPHA:397715)
Gene: KIAA0586
Phenotype: Enlarged cisterna magna (HP:0002280)
Associated disease: JBTS with JATD; Joubert syndrome with Jeune asphyxiating thoracic dystrophy; Joubert syndrome with JATD (ORPHA:397715)
Gene: KIAA0586
Phenotype: Enlarged cisterna magna (HP:0002280)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY (OMIM:616546)
Gene: KIAA0586
Phenotype: Cerebellar dysplasia (HP:0007033)
Associated disease: JOUBERT SYNDROME 23 (OMIM:616490)
Gene: KIAA0586
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: JBTS with JATD; Joubert syndrome with Jeune asphyxiating thoracic dystrophy; Joubert syndrome with JATD (ORPHA:397715)
Gene: KIAA0586
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIAA0586
Phenotype: Dilated third ventricle (HP:0007082)
Associated disease: JBTS with JATD; Joubert syndrome with Jeune asphyxiating thoracic dystrophy; Joubert syndrome with JATD (ORPHA:397715)
Gene: KIAA0586
Phenotype: Hypoplasia of the brainstem (HP:0002365)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY (OMIM:616546)
Gene: KIAA0586
Phenotype: Anencephaly (HP:0002323)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY (OMIM:616546)
Gene: KIAA0586
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KIAA0586
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIAA0586
Phenotype: Rhizomelic arm shortening (HP:0004991)
Associated disease: JBTS with JATD; Joubert syndrome with Jeune asphyxiating thoracic dystrophy; Joubert syndrome with JATD (ORPHA:397715)
Gene: KIAA0586
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIAA0586
Phenotype: Cervical spinal canal stenosis (HP:0008445)
Associated disease: JBTS with JATD; Joubert syndrome with Jeune asphyxiating thoracic dystrophy; Joubert syndrome with JATD (ORPHA:397715)
Gene: KIAA0586
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KIAA0586
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KIAA0586
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KIAA0586
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIAA0586
Phenotype: Nystagmus (HP:0000639)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: KIAA0586
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KIAA0586
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KIAA0586
Phenotype: Iris coloboma (HP:0000612)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: KIAA0586
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIAA0586
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KIAA0586
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIAA0586
Phenotype: Abnormal 5th metacarpal morphology (HP:0010013)
Associated disease: JBTS with JATD; Joubert syndrome with Jeune asphyxiating thoracic dystrophy; Joubert syndrome with JATD (ORPHA:397715)
Gene: KIAA0586
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIAA0586
Phenotype: Oculomotor apraxia (HP:0000657)
Associated disease: JBTS with JATD; Joubert syndrome with Jeune asphyxiating thoracic dystrophy; Joubert syndrome with JATD (ORPHA:397715)
Gene: KIAA0586
Phenotype: Oculomotor apraxia (HP:0000657)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: KIAA0586
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KIAA0586
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIAA0586
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIAA0586
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIAA0586
Phenotype: Dysplastic corpus callosum (HP:0006989)
Associated disease: JOUBERT SYNDROME 23 (OMIM:616490)
Gene: KIAA0586
Phenotype: Short stature (HP:0004322)
Associated disease: JBTS with JATD; Joubert syndrome with Jeune asphyxiating thoracic dystrophy; Joubert syndrome with JATD (ORPHA:397715)
Gene: KIAA0586
Phenotype: Lateral ventricle dilatation (HP:0006956)
Associated disease: JBTS with JATD; Joubert syndrome with Jeune asphyxiating thoracic dystrophy; Joubert syndrome with JATD (ORPHA:397715)
Gene: KIAA0586
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: KIAA0586
Phenotype: Renal cortical cysts (HP:0000803)
Associated disease: JBTS with JATD; Joubert syndrome with Jeune asphyxiating thoracic dystrophy; Joubert syndrome with JATD (ORPHA:397715)
Gene: KIAA0586
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KIAA0586
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KIAA0586
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIAA0586
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIAA0586
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIAA0586
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIAA0586
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIAA0586
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIAA0586
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIAA0586
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIAA0586
Phenotype: Abnormal optic disc morphology (HP:0012795)
Associated disease: JBTS with JATD; Joubert syndrome with Jeune asphyxiating thoracic dystrophy; Joubert syndrome with JATD (ORPHA:397715)
Gene: KIAA0586
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIAA0586
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIAA0586
Phenotype: Narrow chest (HP:0000774)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY (OMIM:616546)
Gene: KIAA0586
Phenotype: Short ribs (HP:0000773)
Associated disease: JBTS with JATD; Joubert syndrome with Jeune asphyxiating thoracic dystrophy; Joubert syndrome with JATD (ORPHA:397715)
Gene: KIAA0586
Phenotype: Short ribs (HP:0000773)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY (OMIM:616546)
Gene: KIAA0586
Phenotype: Congenital diaphragmatic hernia (HP:0000776)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY (OMIM:616546)
Gene: KIAA0586
Phenotype: Biparietal narrowing (HP:0004422)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: KIAA0586
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIAA0586
Phenotype: Abnormal acetabulum morphology (HP:0003170)
Associated disease: JBTS with JATD; Joubert syndrome with Jeune asphyxiating thoracic dystrophy; Joubert syndrome with JATD (ORPHA:397715)
Gene: KIAA0586
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIAA0586
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIAA0586
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KIAA0586
Phenotype: Long clavicles (HP:0000890)
Associated disease: JBTS with JATD; Joubert syndrome with Jeune asphyxiating thoracic dystrophy; Joubert syndrome with JATD (ORPHA:397715)
Gene: KIAA0586
Phenotype: Abnormality of the hypothalamus-pituitary axis (HP:0000864)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: KIAA0586
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KIAA0586
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIAA0586
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KIAA0586
Phenotype: Postaxial polydactyly (HP:0100259)
Associated disease: JBTS with JATD; Joubert syndrome with Jeune asphyxiating thoracic dystrophy; Joubert syndrome with JATD (ORPHA:397715)
Gene: KIAA0586
Phenotype: Postaxial polydactyly (HP:0100259)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY (OMIM:616546)
Gene: KIAA0586
Phenotype: Preaxial polydactyly (HP:0100258)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY (OMIM:616546)
Gene: KIAA0586
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIAA0586
Phenotype: Epicanthus (HP:0000286)
Associated disease: JBTS with JATD; Joubert syndrome with Jeune asphyxiating thoracic dystrophy; Joubert syndrome with JATD (ORPHA:397715)
Gene: KIAA0586
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIAA0586
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)