TaoMedAI/RareMedData huggingface dataset:
Gene: KIAA0753
Phenotype: Nephropathy (HP:0000112)
Associated disease: Jeune asphyxiating thoracic dystrophy; Asphyxiating thoracic dystrophy of the newborn; JATD; Jeune syndrome (ORPHA:474)
Gene: KIAA0753
Phenotype: Renal agenesis (HP:0000104)
Associated disease: Váradi syndrome; Polydactyly-cleft lip/palate-psychomotor retardation syndrome; Váradi-Papp syndrome; Joubert syndrome with orofaciodigital defect; Orofaciodigital syndrome type 6; OFD6; Joubert syndrome with oral-facial-digital syndrome; Oral-facial-digital syndrome type 6 (ORPHA:2754)
Gene: KIAA0753
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: JOUBERT SYNDROME 38 (OMIM:619476)
Gene: KIAA0753
Phenotype: Frontal bossing (HP:0002007)
Associated disease: JOUBERT SYNDROME 38 (OMIM:619476)
Gene: KIAA0753
Phenotype: Frontal bossing (HP:0002007)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY (OMIM:619479)
Gene: KIAA0753
Phenotype: Frontal bossing (HP:0002007)
Associated disease: Váradi syndrome; Polydactyly-cleft lip/palate-psychomotor retardation syndrome; Váradi-Papp syndrome; Joubert syndrome with orofaciodigital defect; Orofaciodigital syndrome type 6; OFD6; Joubert syndrome with oral-facial-digital syndrome; Oral-facial-digital syndrome type 6 (ORPHA:2754)
Gene: KIAA0753
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: KIAA0753
Phenotype: Hamartoma of tongue (HP:0011802)
Associated disease: Váradi syndrome; Polydactyly-cleft lip/palate-psychomotor retardation syndrome; Váradi-Papp syndrome; Joubert syndrome with orofaciodigital defect; Orofaciodigital syndrome type 6; OFD6; Joubert syndrome with oral-facial-digital syndrome; Oral-facial-digital syndrome type 6 (ORPHA:2754)
Gene: KIAA0753
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: KIAA0753
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: Jeune asphyxiating thoracic dystrophy; Asphyxiating thoracic dystrophy of the newborn; JATD; Jeune syndrome (ORPHA:474)
Gene: KIAA0753
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY (OMIM:619479)
Gene: KIAA0753
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KIAA0753
Phenotype: Ectopic posterior pituitary (HP:0011755)
Associated disease: JOUBERT SYNDROME 38 (OMIM:619476)
Gene: KIAA0753
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIAA0753
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: OROFACIODIGITAL SYNDROME XV (OMIM:617127)
Gene: KIAA0753
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY (OMIM:619479)
Gene: KIAA0753
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: KIAA0753
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: KIAA0753
Phenotype: Apnea (HP:0002104)
Associated disease: Váradi syndrome; Polydactyly-cleft lip/palate-psychomotor retardation syndrome; Váradi-Papp syndrome; Joubert syndrome with orofaciodigital defect; Orofaciodigital syndrome type 6; OFD6; Joubert syndrome with oral-facial-digital syndrome; Oral-facial-digital syndrome type 6 (ORPHA:2754)
Gene: KIAA0753
Phenotype: Dysgenesis of the cerebellar vermis (HP:0002195)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY (OMIM:619479)
Gene: KIAA0753
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY (OMIM:619479)
Gene: KIAA0753
Phenotype: Cone-shaped epiphysis (HP:0010579)
Associated disease: Jeune asphyxiating thoracic dystrophy; Asphyxiating thoracic dystrophy of the newborn; JATD; Jeune syndrome (ORPHA:474)
Gene: KIAA0753
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: KIAA0753
Phenotype: Abnormality of neuronal migration (HP:0002269)
Associated disease: Váradi syndrome; Polydactyly-cleft lip/palate-psychomotor retardation syndrome; Váradi-Papp syndrome; Joubert syndrome with orofaciodigital defect; Orofaciodigital syndrome type 6; OFD6; Joubert syndrome with oral-facial-digital syndrome; Oral-facial-digital syndrome type 6 (ORPHA:2754)
Gene: KIAA0753
Phenotype: Congenital onset (HP:0003577)
Associated disease: OROFACIODIGITAL SYNDROME XV (OMIM:617127)
Gene: KIAA0753
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: KIAA0753
Phenotype: Hypoplasia of olfactory tract (HP:0007036)
Associated disease: Váradi syndrome; Polydactyly-cleft lip/palate-psychomotor retardation syndrome; Váradi-Papp syndrome; Joubert syndrome with orofaciodigital defect; Orofaciodigital syndrome type 6; OFD6; Joubert syndrome with oral-facial-digital syndrome; Oral-facial-digital syndrome type 6 (ORPHA:2754)
Gene: KIAA0753
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY (OMIM:619479)
Gene: KIAA0753
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIAA0753
Phenotype: Inferior cerebellar vermis hypoplasia (HP:0007068)
Associated disease: JOUBERT SYNDROME 38 (OMIM:619476)
Gene: KIAA0753
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KIAA0753
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIAA0753
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIAA0753
Phenotype: Tube feeding (HP:0033454)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY (OMIM:619479)
Gene: KIAA0753
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KIAA0753
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KIAA0753
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KIAA0753
Phenotype: Midline notch of upper alveolar ridge (HP:0009084)
Associated disease: OROFACIODIGITAL SYNDROME XV (OMIM:617127)
Gene: KIAA0753
Phenotype: Midline notch of upper alveolar ridge (HP:0009084)
Associated disease: Váradi syndrome; Polydactyly-cleft lip/palate-psychomotor retardation syndrome; Váradi-Papp syndrome; Joubert syndrome with orofaciodigital defect; Orofaciodigital syndrome type 6; OFD6; Joubert syndrome with oral-facial-digital syndrome; Oral-facial-digital syndrome type 6 (ORPHA:2754)
Gene: KIAA0753
Phenotype: Duplication of phalanx of hallux (HP:0010066)
Associated disease: OROFACIODIGITAL SYNDROME XV (OMIM:617127)
Gene: KIAA0753
Phenotype: Trident pelvis (HP:0034044)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY (OMIM:619479)
Gene: KIAA0753
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIAA0753
Phenotype: Nystagmus (HP:0000639)
Associated disease: Váradi syndrome; Polydactyly-cleft lip/palate-psychomotor retardation syndrome; Váradi-Papp syndrome; Joubert syndrome with orofaciodigital defect; Orofaciodigital syndrome type 6; OFD6; Joubert syndrome with oral-facial-digital syndrome; Oral-facial-digital syndrome type 6 (ORPHA:2754)
Gene: KIAA0753
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: KIAA0753
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KIAA0753
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KIAA0753
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: KIAA0753
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIAA0753
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KIAA0753
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIAA0753
Phenotype: Broad hallux (HP:0010055)
Associated disease: OROFACIODIGITAL SYNDROME XV (OMIM:617127)
Gene: KIAA0753
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIAA0753
Phenotype: Microdontia (HP:0000691)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY (OMIM:619479)
Gene: KIAA0753
Phenotype: Widely spaced teeth (HP:0000687)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY (OMIM:619479)
Gene: KIAA0753
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: KIAA0753
Phenotype: Oculomotor apraxia (HP:0000657)
Associated disease: JOUBERT SYNDROME 38 (OMIM:619476)
Gene: KIAA0753
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KIAA0753
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIAA0753
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIAA0753
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIAA0753
Phenotype: Short stature (HP:0004322)
Associated disease: Váradi syndrome; Polydactyly-cleft lip/palate-psychomotor retardation syndrome; Váradi-Papp syndrome; Joubert syndrome with orofaciodigital defect; Orofaciodigital syndrome type 6; OFD6; Joubert syndrome with oral-facial-digital syndrome; Oral-facial-digital syndrome type 6 (ORPHA:2754)
Gene: KIAA0753
Phenotype: Short stature (HP:0004322)
Associated disease: JOUBERT SYNDROME 38 (OMIM:619476)
Gene: KIAA0753
Phenotype: Short stature (HP:0004322)
Associated disease: Jeune asphyxiating thoracic dystrophy; Asphyxiating thoracic dystrophy of the newborn; JATD; Jeune syndrome (ORPHA:474)
Gene: KIAA0753
Phenotype: Lateral ventricle dilatation (HP:0006956)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY (OMIM:619479)
Gene: KIAA0753
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: KIAA0753
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KIAA0753
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KIAA0753
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIAA0753
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIAA0753
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIAA0753
Phenotype: Short long bone (HP:0003026)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY (OMIM:619479)
Gene: KIAA0753
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIAA0753
Phenotype: Abnormal rib morphology (HP:0000772)
Associated disease: Jeune asphyxiating thoracic dystrophy; Asphyxiating thoracic dystrophy of the newborn; JATD; Jeune syndrome (ORPHA:474)
Gene: KIAA0753
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIAA0753
Phenotype: Abnormal sternum morphology (HP:0000766)
Associated disease: Jeune asphyxiating thoracic dystrophy; Asphyxiating thoracic dystrophy of the newborn; JATD; Jeune syndrome (ORPHA:474)
Gene: KIAA0753
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIAA0753
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIAA0753
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY (OMIM:619479)
Gene: KIAA0753
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIAA0753
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIAA0753
Phenotype: Fetal onset (HP:0011461)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY (OMIM:619479)
Gene: KIAA0753
Phenotype: Narrow chest (HP:0000774)
Associated disease: Jeune asphyxiating thoracic dystrophy; Asphyxiating thoracic dystrophy of the newborn; JATD; Jeune syndrome (ORPHA:474)
Gene: KIAA0753
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIAA0753
Phenotype: Narrow chest (HP:0000774)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY (OMIM:619479)
Gene: KIAA0753
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: KIAA0753
Phenotype: Biparietal narrowing (HP:0004422)
Associated disease: Váradi syndrome; Polydactyly-cleft lip/palate-psychomotor retardation syndrome; Váradi-Papp syndrome; Joubert syndrome with orofaciodigital defect; Orofaciodigital syndrome type 6; OFD6; Joubert syndrome with oral-facial-digital syndrome; Oral-facial-digital syndrome type 6 (ORPHA:2754)
Gene: KIAA0753
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIAA0753
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIAA0753
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIAA0753
Phenotype: Short humerus (HP:0005792)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY (OMIM:619479)
Gene: KIAA0753
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KIAA0753
Phenotype: Abnormal clavicle morphology (HP:0000889)
Associated disease: Jeune asphyxiating thoracic dystrophy; Asphyxiating thoracic dystrophy of the newborn; JATD; Jeune syndrome (ORPHA:474)
Gene: KIAA0753
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: KIAA0753
Phenotype: Decreased response to growth hormone stimulation test (HP:0000824)
Associated disease: JOUBERT SYNDROME 38 (OMIM:619476)
Gene: KIAA0753
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KIAA0753
Phenotype: Finger clinodactyly (HP:0040019)
Associated disease: Váradi syndrome; Polydactyly-cleft lip/palate-psychomotor retardation syndrome; Váradi-Papp syndrome; Joubert syndrome with orofaciodigital defect; Orofaciodigital syndrome type 6; OFD6; Joubert syndrome with oral-facial-digital syndrome; Oral-facial-digital syndrome type 6 (ORPHA:2754)
Gene: KIAA0753
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIAA0753
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KIAA0753
Phenotype: Hypertrichosis (HP:0000998)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY (OMIM:619479)
Gene: KIAA0753
Phenotype: Mesoaxial polydactyly (HP:0100260)
Associated disease: Váradi syndrome; Polydactyly-cleft lip/palate-psychomotor retardation syndrome; Váradi-Papp syndrome; Joubert syndrome with orofaciodigital defect; Orofaciodigital syndrome type 6; OFD6; Joubert syndrome with oral-facial-digital syndrome; Oral-facial-digital syndrome type 6 (ORPHA:2754)
Gene: KIAA0753
Phenotype: Preaxial polydactyly (HP:0100258)
Associated disease: Váradi syndrome; Polydactyly-cleft lip/palate-psychomotor retardation syndrome; Váradi-Papp syndrome; Joubert syndrome with orofaciodigital defect; Orofaciodigital syndrome type 6; OFD6; Joubert syndrome with oral-facial-digital syndrome; Oral-facial-digital syndrome type 6 (ORPHA:2754)
Gene: KIAA0753
Phenotype: Short thorax (HP:0010306)
Associated disease: Jeune asphyxiating thoracic dystrophy; Asphyxiating thoracic dystrophy of the newborn; JATD; Jeune syndrome (ORPHA:474)
Gene: KIAA0753
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIAA0753
Phenotype: Abnormal metaphysis morphology (HP:0000944)
Associated disease: Jeune asphyxiating thoracic dystrophy; Asphyxiating thoracic dystrophy of the newborn; JATD; Jeune syndrome (ORPHA:474)
Gene: KIAA0753
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Jeune asphyxiating thoracic dystrophy; Asphyxiating thoracic dystrophy of the newborn; JATD; Jeune syndrome (ORPHA:474)
Gene: KIAA0753
Phenotype: Epicanthus (HP:0000286)
Associated disease: JOUBERT SYNDROME 38 (OMIM:619476)
Gene: KIAA0753
Phenotype: Epicanthus (HP:0000286)
Associated disease: Váradi syndrome; Polydactyly-cleft lip/palate-psychomotor retardation syndrome; Váradi-Papp syndrome; Joubert syndrome with orofaciodigital defect; Orofaciodigital syndrome type 6; OFD6; Joubert syndrome with oral-facial-digital syndrome; Oral-facial-digital syndrome type 6 (ORPHA:2754)
Gene: KIAA0753
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIAA0753
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIAA0753
Phenotype: Long face (HP:0000276)
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: KIAA0753
Phenotype: Long face (HP:0000276)
Associated disease: Váradi syndrome; Polydactyly-cleft lip/palate-psychomotor retardation syndrome; Váradi-Papp syndrome; Joubert syndrome with orofaciodigital defect; Orofaciodigital syndrome type 6; OFD6; Joubert syndrome with oral-facial-digital syndrome; Oral-facial-digital syndrome type 6 (ORPHA:2754)
Gene: KIAA0753
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIAA0753
Phenotype: Hydrocephalus (HP:0000238)
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: KIAA0753
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIAA0753
Phenotype: High palate (HP:0000218)
Associated disease: Váradi syndrome; Polydactyly-cleft lip/palate-psychomotor retardation syndrome; Váradi-Papp syndrome; Joubert syndrome with orofaciodigital defect; Orofaciodigital syndrome type 6; OFD6; Joubert syndrome with oral-facial-digital syndrome; Oral-facial-digital syndrome type 6 (ORPHA:2754)
Gene: KIAA0753
Phenotype: Episodic tachypnea (HP:0002876)
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: KIAA0753
Phenotype: Episodic tachypnea (HP:0002876)
Associated disease: Váradi syndrome; Polydactyly-cleft lip/palate-psychomotor retardation syndrome; Váradi-Papp syndrome; Joubert syndrome with orofaciodigital defect; Orofaciodigital syndrome type 6; OFD6; Joubert syndrome with oral-facial-digital syndrome; Oral-facial-digital syndrome type 6 (ORPHA:2754)
Gene: KIAA0753
Phenotype: Short lingual frenulum (HP:0000200)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY (OMIM:619479)
Gene: KIAA0753
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KIAA0753
Phenotype: Protuberant abdomen (HP:0001538)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY (OMIM:619479)
Gene: KIAA0753
Phenotype: Orofacial cleft (HP:0000202)
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: KIAA0753
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KIAA0753
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Váradi syndrome; Polydactyly-cleft lip/palate-psychomotor retardation syndrome; Váradi-Papp syndrome; Joubert syndrome with orofaciodigital defect; Orofaciodigital syndrome type 6; OFD6; Joubert syndrome with oral-facial-digital syndrome; Oral-facial-digital syndrome type 6 (ORPHA:2754)
Gene: KIAA0753
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIAA0753
Phenotype: Growth delay (HP:0001510)
Associated disease: Váradi syndrome; Polydactyly-cleft lip/palate-psychomotor retardation syndrome; Váradi-Papp syndrome; Joubert syndrome with orofaciodigital defect; Orofaciodigital syndrome type 6; OFD6; Joubert syndrome with oral-facial-digital syndrome; Oral-facial-digital syndrome type 6 (ORPHA:2754)
Gene: KIAA0753
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KIAA0753
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIAA0753
Phenotype: Flat face (HP:0012368)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY (OMIM:619479)
Gene: KIAA0753
Phenotype: Flat face (HP:0012368)
Associated disease: OROFACIODIGITAL SYNDROME XV (OMIM:617127)
Gene: KIAA0753
Phenotype: Thoracic hypoplasia (HP:0005257)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY (OMIM:619479)
Gene: KIAA0753
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIAA0753
Phenotype: Situs inversus totalis (HP:0001696)
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: KIAA0753
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KIAA0753
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: JOUBERT SYNDROME 38 (OMIM:619476)
Gene: KIAA0753
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY (OMIM:619479)