TaoMedAI/RareMedData huggingface dataset:
Gene: PLEKHM1
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLEKHM1
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLEKHM1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLEKHM1
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLEKHM1
Phenotype: Osteopenia (HP:0000938)
Associated disease: OSTEOPETROSIS, AUTOSOMAL DOMINANT 3 (OMIM:618107)
Gene: PLEKHM1
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLEKHM1
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLEKHM1
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLEKHM1
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLEKHM1
Phenotype: Gingivitis (HP:0000230)
Associated disease: OSTEOPETROSIS, AUTOSOMAL DOMINANT 3 (OMIM:618107)
Gene: PLEKHM1
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLEKHM1
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLEKHM1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLEKHM1
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLEKHM1
Phenotype: Fatigue (HP:0012378)
Associated disease: OSTEOPETROSIS, AUTOSOMAL DOMINANT 3 (OMIM:618107)
Gene: PLEKHM1
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLEKHM1
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLEKHM1
Phenotype: Hypocalcemia (HP:0002901)
Associated disease: Intermediate osteopetrosis; Autosomal recessive intermediate osteopetrosis (ORPHA:210110)
Gene: PLEKHM1
Phenotype: Premature loss of teeth (HP:0006480)
Associated disease: OSTEOPETROSIS, AUTOSOMAL DOMINANT 3 (OMIM:618107)
Gene: PLEKHM1
Phenotype: Abnormal dental morphology (HP:0006482)
Associated disease: Intermediate osteopetrosis; Autosomal recessive intermediate osteopetrosis (ORPHA:210110)
Gene: PLEKHM1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLEKHM1
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLEKHM1
Phenotype: Osteopetrosis (HP:0011002)
Associated disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 6 (OMIM:611497)
Gene: PLEKHM1
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLEKHM1
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLEKHM1
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLEKHM1
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLEKHM1
Phenotype: Optic atrophy from cranial nerve compression (HP:0007958)
Associated disease: Intermediate osteopetrosis; Autosomal recessive intermediate osteopetrosis (ORPHA:210110)
Gene: PLEKHM1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLEKHM1
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLEKHM1
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLEKHM1
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLEKHM1
Phenotype: Splenomegaly (HP:0001744)
Associated disease: OSTEOPETROSIS, AUTOSOMAL DOMINANT 3 (OMIM:618107)
Gene: PLEKHM1
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLEKHM1
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLEKHM1
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLEKHM1
Phenotype: Visual impairment (HP:0000505)
Associated disease: Intermediate osteopetrosis; Autosomal recessive intermediate osteopetrosis (ORPHA:210110)
Gene: PLEKHM1
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLEKHM1
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PLEKHM1
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PLEKHM1
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: Intermediate osteopetrosis; Autosomal recessive intermediate osteopetrosis (ORPHA:210110)
Gene: KIAA0753
Phenotype: Brachydactyly (HP:0001156)
Associated disease: Jeune asphyxiating thoracic dystrophy; Asphyxiating thoracic dystrophy of the newborn; JATD; Jeune syndrome (ORPHA:474)
Gene: KIAA0753
Phenotype: Brachydactyly (HP:0001156)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY (OMIM:619479)
Gene: KIAA0753
Phenotype: Brachydactyly (HP:0001156)
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: Postaxial hand polydactyly (HP:0001162)
Associated disease: Jeune asphyxiating thoracic dystrophy; Asphyxiating thoracic dystrophy of the newborn; JATD; Jeune syndrome (ORPHA:474)
Gene: KIAA0753
Phenotype: Postaxial hand polydactyly (HP:0001162)
Associated disease: OROFACIODIGITAL SYNDROME XV (OMIM:617127)
Gene: KIAA0753
Phenotype: Hand polydactyly (HP:0001161)
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: Hand polydactyly (HP:0001161)
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: Syndactyly (HP:0001159)
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: Hypothalamic hamartoma (HP:0002444)
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: Molar tooth sign on MRI (HP:0002419)
Associated disease: JOUBERT SYNDROME 38 (OMIM:619476)
Gene: KIAA0753
Phenotype: Molar tooth sign on MRI (HP:0002419)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY (OMIM:619479)
Gene: KIAA0753
Phenotype: Molar tooth sign on MRI (HP:0002419)
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: Molar tooth sign on MRI (HP:0002419)
Associated disease: OROFACIODIGITAL SYNDROME XV (OMIM:617127)
Gene: KIAA0753
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KIAA0753
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KIAA0753
Phenotype: Generalized hypotonia (HP:0001290)
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: Agenesis of corpus callosum (HP:0001274)
Associated disease: OROFACIODIGITAL SYNDROME XV (OMIM:617127)
Gene: KIAA0753
Phenotype: Gait disturbance (HP:0001288)
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: Gait disturbance (HP:0001288)
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: Seizure (HP:0001250)
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: Seizure (HP:0001250)
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: Hypotonia (HP:0001252)
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: Hypotonia (HP:0001252)
Associated disease: JOUBERT SYNDROME 38 (OMIM:619476)
Gene: KIAA0753
Phenotype: Hypotonia (HP:0001252)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY (OMIM:619479)
Gene: KIAA0753
Phenotype: Hypotonia (HP:0001252)
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: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIAA0753
Phenotype: Ataxia (HP:0001251)
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: Ataxia (HP:0001251)
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: Intellectual disability (HP:0001249)
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: Intellectual disability (HP:0001249)
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: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIAA0753
Phenotype: Global developmental delay (HP:0001263)
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: Global developmental delay (HP:0001263)
Associated disease: JOUBERT SYNDROME 38 (OMIM:619476)
Gene: KIAA0753
Phenotype: Global developmental delay (HP:0001263)
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: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIAA0753
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: KIAA0753
Phenotype: Aplasia/Hypoplasia of the corpus callosum (HP:0007370)
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: Bilateral cryptorchidism (HP:0008689)
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: Renal hypoplasia/aplasia (HP:0008678)
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: Bowed humerus (HP:0003865)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY (OMIM:619479)
Gene: KIAA0753
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: KIAA0753
Phenotype: Highly arched eyebrow (HP:0002553)
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: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KIAA0753
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: Jeune asphyxiating thoracic dystrophy; Asphyxiating thoracic dystrophy of the newborn; JATD; Jeune syndrome (ORPHA:474)
Gene: KIAA0753
Phenotype: Nephronophthisis (HP:0000090)
Associated disease: Jeune asphyxiating thoracic dystrophy; Asphyxiating thoracic dystrophy of the newborn; JATD; Jeune syndrome (ORPHA:474)
Gene: KIAA0753
Phenotype: Abnormality of the liver (HP:0001392)
Associated disease: Jeune asphyxiating thoracic dystrophy; Asphyxiating thoracic dystrophy of the newborn; JATD; Jeune syndrome (ORPHA:474)
Gene: KIAA0753
Phenotype: Flexion contracture (HP:0001371)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY (OMIM:619479)
Gene: KIAA0753
Phenotype: Micropenis (HP:0000054)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY (OMIM:619479)
Gene: KIAA0753
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIAA0753
Phenotype: Hypospadias (HP:0000047)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY (OMIM:619479)
Gene: KIAA0753
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KIAA0753
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIAA0753
Phenotype: Disproportionate short-limb short stature (HP:0008873)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY (OMIM:619479)
Gene: KIAA0753
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: KIAA0753
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: Jeune asphyxiating thoracic dystrophy; Asphyxiating thoracic dystrophy of the newborn; JATD; Jeune syndrome (ORPHA:474)
Gene: KIAA0753
Phenotype: Feeding difficulties in infancy (HP:0008872)
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: Central Y-shaped metacarpal (HP:0006145)
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: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIAA0753
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KIAA0753
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIAA0753
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: JOUBERT SYNDROME 38 (OMIM:619476)
Gene: KIAA0753
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY (OMIM:619479)
Gene: KIAA0753
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIAA0753
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: OROFACIODIGITAL SYNDROME XV (OMIM:617127)
Gene: KIAA0753
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: KIAA0753
Phenotype: Tremor (HP:0001337)
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: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KIAA0753
Phenotype: Skeletal dysplasia (HP:0002652)
Associated disease: Jeune asphyxiating thoracic dystrophy; Asphyxiating thoracic dystrophy of the newborn; JATD; Jeune syndrome (ORPHA:474)
Gene: KIAA0753
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: KIAA0753
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: JOUBERT SYNDROME 38 (OMIM:619476)
Gene: KIAA0753
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
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: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: OROFACIODIGITAL SYNDROME XV (OMIM:617127)
Gene: KIAA0753
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: KIAA0753
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KIAA0753
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIAA0753
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY (OMIM:619479)
Gene: KIAA0753
Phenotype: Abnormal pelvic girdle bone morphology (HP:0002644)
Associated disease: Jeune asphyxiating thoracic dystrophy; Asphyxiating thoracic dystrophy of the newborn; JATD; Jeune syndrome (ORPHA:474)
Gene: KIAA0753
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KIAA0753
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIAA0753
Phenotype: Lobulated tongue (HP:0000180)
Associated disease: OROFACIODIGITAL SYNDROME XV (OMIM:617127)
Gene: KIAA0753
Phenotype: Lobulated tongue (HP:0000180)
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: Tongue nodules (HP:0000199)
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: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIAA0753
Phenotype: Abnormal oral frenulum morphology (HP:0000190)
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: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIAA0753
Phenotype: Cleft palate (HP:0000175)
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 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: KIAA0753
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: OROFACIODIGITAL SYNDROME XV (OMIM:617127)