TaoMedAI/RareMedData huggingface dataset:
Gene: CPLANE1
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: CPLANE1
Phenotype: Abnormality of the immune system (HP:0002715)
Associated disease: Benign focal amyotrophy; Juvenile muscular atrophy of distal upper extremity; Monomelic amyotrophy; Hirayama disease; Juvenile muscular atrophy of the distal upper limb; JMADUE (ORPHA:65684)
Gene: CPLANE1
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: CPLANE1
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: CPLANE1
Phenotype: Hamartoma of tongue (HP:0011802)
Associated disease: OROFACIODIGITAL SYNDROME VI (OMIM:277170)
Gene: CPLANE1
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: CPLANE1
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: CPLANE1
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CPLANE1
Phenotype: Radial deviation of finger (HP:0009466)
Associated disease: OROFACIODIGITAL SYNDROME VI (OMIM:277170)
Gene: CPLANE1
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CPLANE1
Phenotype: Arrhinencephaly (HP:0002139)
Associated disease: OROFACIODIGITAL SYNDROME VI (OMIM:277170)
Gene: CPLANE1
Phenotype: Porencephalic cyst (HP:0002132)
Associated disease: OROFACIODIGITAL SYNDROME VI (OMIM:277170)
Gene: CPLANE1
Phenotype: EMG abnormality (HP:0003457)
Associated disease: Benign focal amyotrophy; Juvenile muscular atrophy of distal upper extremity; Monomelic amyotrophy; Hirayama disease; Juvenile muscular atrophy of the distal upper limb; JMADUE (ORPHA:65684)
Gene: CPLANE1
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: CPLANE1
Phenotype: Polymicrogyria (HP:0002126)
Associated disease: OROFACIODIGITAL SYNDROME VI (OMIM:277170)
Gene: CPLANE1
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: CPLANE1
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: CPLANE1
Phenotype: 3-4 finger cutaneous syndactyly (HP:0011939)
Associated disease: JOUBERT SYNDROME 17 (OMIM:614615)
Gene: CPLANE1
Phenotype: Infantile onset (HP:0003593)
Associated disease: JOUBERT SYNDROME 17 (OMIM:614615)
Gene: CPLANE1
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: CPLANE1
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: CPLANE1
Phenotype: Congenital onset (HP:0003577)
Associated disease: OROFACIODIGITAL SYNDROME VI (OMIM:277170)
Gene: CPLANE1
Phenotype: Arachnoid cyst (HP:0100702)
Associated disease: OROFACIODIGITAL SYNDROME VI (OMIM:277170)
Gene: CPLANE1
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: CPLANE1
Phenotype: Enlarged cisterna magna (HP:0002280)
Associated disease: OROFACIODIGITAL SYNDROME VI (OMIM:277170)
Gene: CPLANE1
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: CPLANE1
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CPLANE1
Phenotype: Fasciculations (HP:0002380)
Associated disease: Benign focal amyotrophy; Juvenile muscular atrophy of distal upper extremity; Monomelic amyotrophy; Hirayama disease; Juvenile muscular atrophy of the distal upper limb; JMADUE (ORPHA:65684)
Gene: CPLANE1
Phenotype: Degeneration of anterior horn cells (HP:0002398)
Associated disease: Benign focal amyotrophy; Juvenile muscular atrophy of distal upper extremity; Monomelic amyotrophy; Hirayama disease; Juvenile muscular atrophy of the distal upper limb; JMADUE (ORPHA:65684)
Gene: CPLANE1
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CPLANE1
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CPLANE1
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CPLANE1
Phenotype: Distal upper limb amyotrophy (HP:0007149)
Associated disease: Benign focal amyotrophy; Juvenile muscular atrophy of distal upper extremity; Monomelic amyotrophy; Hirayama disease; Juvenile muscular atrophy of the distal upper limb; JMADUE (ORPHA:65684)
Gene: CPLANE1
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CPLANE1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CPLANE1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CPLANE1
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CPLANE1
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: CPLANE1
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CPLANE1
Phenotype: Nystagmus (HP:0000639)
Associated disease: OROFACIODIGITAL SYNDROME VI (OMIM:277170)
Gene: CPLANE1
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: CPLANE1
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: CPLANE1
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CPLANE1
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CPLANE1
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: CPLANE1
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CPLANE1
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CPLANE1
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CPLANE1
Phenotype: Incomplete cleft of the upper lip (HP:0011340)
Associated disease: OROFACIODIGITAL SYNDROME VI (OMIM:277170)
Gene: CPLANE1
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CPLANE1
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CPLANE1
Phenotype: Oculomotor apraxia (HP:0000657)
Associated disease: JOUBERT SYNDROME 17 (OMIM:614615)
Gene: CPLANE1
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: CPLANE1
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CPLANE1
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CPLANE1
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CPLANE1
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CPLANE1
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: CPLANE1
Phenotype: Short stature (HP:0004322)
Associated disease: OROFACIODIGITAL SYNDROME VI (OMIM:277170)
Gene: CPLANE1
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: CPLANE1
Phenotype: Hypoplastic left heart (HP:0004383)
Associated disease: OROFACIODIGITAL SYNDROME VI (OMIM:277170)
Gene: CPLANE1
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CPLANE1
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CPLANE1
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CPLANE1
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CPLANE1
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CPLANE1
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CPLANE1
Phenotype: Abnormality of movement (HP:0100022)
Associated disease: Benign focal amyotrophy; Juvenile muscular atrophy of distal upper extremity; Monomelic amyotrophy; Hirayama disease; Juvenile muscular atrophy of the distal upper limb; JMADUE (ORPHA:65684)
Gene: CPLANE1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CPLANE1
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CPLANE1
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CPLANE1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CPLANE1
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CPLANE1
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CPLANE1
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CPLANE1
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CPLANE1
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: CPLANE1
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: CPLANE1
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CPLANE1
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CPLANE1
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CPLANE1
Phenotype: Abnormality of peripheral nerve conduction (HP:0003134)
Associated disease: Benign focal amyotrophy; Juvenile muscular atrophy of distal upper extremity; Monomelic amyotrophy; Hirayama disease; Juvenile muscular atrophy of the distal upper limb; JMADUE (ORPHA:65684)
Gene: CPLANE1
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CPLANE1
Phenotype: 11 pairs of ribs (HP:0000878)
Associated disease: OROFACIODIGITAL SYNDROME VI (OMIM:277170)
Gene: CPLANE1
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: CPLANE1
Phenotype: Short femur (HP:0003097)
Associated disease: OROFACIODIGITAL SYNDROME VI (OMIM:277170)
Gene: CPLANE1
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CPLANE1
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: CPLANE1
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CPLANE1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CPLANE1
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: CPLANE1
Phenotype: Postaxial polydactyly (HP:0100259)
Associated disease: OROFACIODIGITAL SYNDROME VI (OMIM:277170)
Gene: CPLANE1
Phenotype: Postaxial polydactyly (HP:0100259)
Associated disease: JOUBERT SYNDROME 17 (OMIM:614615)
Gene: CPLANE1
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: CPLANE1
Phenotype: Preaxial polydactyly (HP:0100258)
Associated disease: JOUBERT SYNDROME 17 (OMIM:614615)
Gene: CPLANE1
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CPLANE1
Phenotype: Epicanthus (HP:0000286)
Associated disease: OROFACIODIGITAL SYNDROME VI (OMIM:277170)
Gene: CPLANE1
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: CPLANE1
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CPLANE1
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CPLANE1
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: CPLANE1
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: CPLANE1
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CPLANE1
Phenotype: Abnormality of the upper limb (HP:0002817)
Associated disease: Benign focal amyotrophy; Juvenile muscular atrophy of distal upper extremity; Monomelic amyotrophy; Hirayama disease; Juvenile muscular atrophy of the distal upper limb; JMADUE (ORPHA:65684)
Gene: CPLANE1
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CPLANE1
Phenotype: Clinodactyly (HP:0030084)
Associated disease: OROFACIODIGITAL SYNDROME VI (OMIM:277170)
Gene: CPLANE1
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: CPLANE1
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CPLANE1
Phenotype: Hyperventilation (HP:0002883)
Associated disease: JOUBERT SYNDROME 17 (OMIM:614615)
Gene: CPLANE1
Phenotype: Abnormal renal morphology (HP:0012210)
Associated disease: JOUBERT SYNDROME 17 (OMIM:614615)
Gene: CPLANE1
Phenotype: High palate (HP:0000218)
Associated disease: OROFACIODIGITAL SYNDROME VI (OMIM:277170)
Gene: CPLANE1
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: CPLANE1
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: CPLANE1
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: CPLANE1
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CPLANE1
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: CPLANE1
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CPLANE1
Phenotype: Cleft upper lip (HP:0000204)
Associated disease: OROFACIODIGITAL SYNDROME VI (OMIM:277170)
Gene: CPLANE1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: OROFACIODIGITAL SYNDROME VI (OMIM:277170)
Gene: CPLANE1
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: CPLANE1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CPLANE1
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: CPLANE1
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CPLANE1
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CPLANE1
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CPLANE1
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CPLANE1
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: CPLANE1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CPLANE1
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: OROFACIODIGITAL SYNDROME VI (OMIM:277170)
Gene: CPLANE1
Phenotype: Posteriorly rotated ears (HP:0000358)
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: CPLANE1
Phenotype: Low-set ears (HP:0000369)
Associated disease: OROFACIODIGITAL SYNDROME VI (OMIM:277170)
Gene: CPLANE1
Phenotype: Low-set ears (HP:0000369)
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: CPLANE1
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CPLANE1
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CPLANE1
Phenotype: Coarctation of aorta (HP:0001680)
Associated disease: OROFACIODIGITAL SYNDROME VI (OMIM:277170)