TaoMedAI/RareMedData huggingface dataset:
Gene: PCDH15
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 23 (OMIM:609533)
Gene: PCDH15
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: USHER SYNDROME, TYPE IF (OMIM:602083)
Gene: PCDH15
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PCDH15
Phenotype: Subcortical cerebral atrophy (HP:0012157)
Associated disease: USH1; Usher syndrome type 1 (ORPHA:231169)
Gene: PCDH15
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PCDH15
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PCDH15
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: USH1; Usher syndrome type 1 (ORPHA:231169)
Gene: PCDH15
Phenotype: Congenital onset (HP:0003577)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 23 (OMIM:609533)
Gene: PCDH15
Phenotype: Congenital onset (HP:0003577)
Associated disease: USHER SYNDROME, TYPE IF (OMIM:602083)
Gene: PCDH15
Phenotype: Schizophrenia (HP:0100753)
Associated disease: USH1; Usher syndrome type 1 (ORPHA:231169)
Gene: PCDH15
Phenotype: Congenital sensorineural hearing impairment (HP:0008527)
Associated disease: USHER SYNDROME, TYPE IF (OMIM:602083)
Gene: PCDH15
Phenotype: High hypermetropia (HP:0008499)
Associated disease: USH1; Usher syndrome type 1 (ORPHA:231169)
Gene: PCDH15
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PCDH15
Phenotype: Abnormal dental enamel morphology (HP:0000682)
Associated disease: USH1; Usher syndrome type 1 (ORPHA:231169)
Gene: PCDH15
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PCDH15
Phenotype: Nyctalopia (HP:0000662)
Associated disease: USH1; Usher syndrome type 1 (ORPHA:231169)
Gene: PCDH15
Phenotype: Hallucinations (HP:0000738)
Associated disease: USH1; Usher syndrome type 1 (ORPHA:231169)
Gene: PCDH15
Phenotype: Anxiety (HP:0000739)
Associated disease: USH1; Usher syndrome type 1 (ORPHA:231169)
Gene: PCDH15
Phenotype: Depression (HP:0000716)
Associated disease: USH1; Usher syndrome type 1 (ORPHA:231169)
Gene: PCDH15
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PCDH15
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PCDH15
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PCDH15
Phenotype: Iris hypopigmentation (HP:0007730)
Associated disease: USH1; Usher syndrome type 1 (ORPHA:231169)
Gene: PCDH15
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PCDH15
Phenotype: Hemianopia (HP:0012377)
Associated disease: USH1; Usher syndrome type 1 (ORPHA:231169)
Gene: PCDH15
Phenotype: Hearing impairment (HP:0000365)
Associated disease: USHER SYNDROME, TYPE ID (OMIM:601067)
Gene: PCDH15
Phenotype: Abnormal cochlea morphology (HP:0000375)
Associated disease: USH1; Usher syndrome type 1 (ORPHA:231169)
Gene: PCDH15
Phenotype: Impaired tandem gait (HP:0031629)
Associated disease: USHER SYNDROME, TYPE IF (OMIM:602083)
Gene: PCDH15
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 23 (OMIM:609533)
Gene: PCDH15
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: USH1; Usher syndrome type 1 (ORPHA:231169)
Gene: PCDH15
Phenotype: Abnormal vestibular function (HP:0001751)
Associated disease: USHER SYNDROME, TYPE ID (OMIM:601067)
Gene: PCDH15
Phenotype: Abnormal vestibular function (HP:0001751)
Associated disease: USHER SYNDROME, TYPE IF (OMIM:602083)
Gene: PCDH15
Phenotype: Vestibular hyporeflexia (HP:0001756)
Associated disease: USH1; Usher syndrome type 1 (ORPHA:231169)
Gene: PCDH15
Phenotype: Cataract (HP:0000518)
Associated disease: USH1; Usher syndrome type 1 (ORPHA:231169)
Gene: PCDH15
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: USHER SYNDROME, TYPE ID (OMIM:601067)
Gene: PCDH15
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PCDH15
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: USHER SYNDROME, TYPE IF (OMIM:602083)
Gene: PCDH15
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: USH1; Usher syndrome type 1 (ORPHA:231169)
Gene: PCDH15
Phenotype: Visual impairment (HP:0000505)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 23 (OMIM:609533)
Gene: PCDH15
Phenotype: Scotoma (HP:0000575)
Associated disease: USH1; Usher syndrome type 1 (ORPHA:231169)
Gene: PCDH15
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PCDH15
Phenotype: Visual loss (HP:0000572)
Associated disease: USH1; Usher syndrome type 1 (ORPHA:231169)
Gene: PCDH15
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PCDH15
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CPLANE1
Phenotype: Preaxial hand polydactyly (HP:0001177)
Associated disease: OROFACIODIGITAL SYNDROME VI (OMIM:277170)
Gene: CPLANE1
Phenotype: Brachydactyly (HP:0001156)
Associated disease: OROFACIODIGITAL SYNDROME VI (OMIM:277170)
Gene: CPLANE1
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: CPLANE1
Phenotype: Postaxial hand polydactyly (HP:0001162)
Associated disease: OROFACIODIGITAL SYNDROME VI (OMIM:277170)
Gene: CPLANE1
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: CPLANE1
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: CPLANE1
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: CPLANE1
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CPLANE1
Phenotype: Hypothalamic hamartoma (HP:0002444)
Associated disease: OROFACIODIGITAL SYNDROME VI (OMIM:277170)
Gene: CPLANE1
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: CPLANE1
Phenotype: Occipital meningocele (HP:0002436)
Associated disease: OROFACIODIGITAL SYNDROME VI (OMIM:277170)
Gene: CPLANE1
Phenotype: Molar tooth sign on MRI (HP:0002419)
Associated disease: OROFACIODIGITAL SYNDROME VI (OMIM:277170)
Gene: CPLANE1
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: CPLANE1
Phenotype: Molar tooth sign on MRI (HP:0002419)
Associated disease: JOUBERT SYNDROME 17 (OMIM:614615)
Gene: CPLANE1
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CPLANE1
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CPLANE1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: OROFACIODIGITAL SYNDROME VI (OMIM:277170)
Gene: CPLANE1
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: CPLANE1
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: OROFACIODIGITAL SYNDROME VI (OMIM:277170)
Gene: CPLANE1
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: CPLANE1
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: CPLANE1
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: CPLANE1
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: CPLANE1
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: CPLANE1
Phenotype: Hypotonia (HP:0001252)
Associated disease: OROFACIODIGITAL SYNDROME VI (OMIM:277170)
Gene: CPLANE1
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: CPLANE1
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CPLANE1
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: CPLANE1
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: CPLANE1
Phenotype: Ataxia (HP:0001251)
Associated disease: JOUBERT SYNDROME 17 (OMIM:614615)
Gene: CPLANE1
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: CPLANE1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: OROFACIODIGITAL SYNDROME VI (OMIM:277170)
Gene: CPLANE1
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: CPLANE1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CPLANE1
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: CPLANE1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: JOUBERT SYNDROME 17 (OMIM:614615)
Gene: CPLANE1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: OROFACIODIGITAL SYNDROME VI (OMIM:277170)
Gene: CPLANE1
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: CPLANE1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CPLANE1
Phenotype: Periventricular nodular heterotopia (HP:0032388)
Associated disease: OROFACIODIGITAL SYNDROME VI (OMIM:277170)
Gene: CPLANE1
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: CPLANE1
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: CPLANE1
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: CPLANE1
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: CPLANE1
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: CPLANE1
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: CPLANE1
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CPLANE1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CPLANE1
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CPLANE1
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CPLANE1
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: CPLANE1
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: CPLANE1
Phenotype: Mesoaxial hand polydactyly (HP:0006159)
Associated disease: OROFACIODIGITAL SYNDROME VI (OMIM:277170)
Gene: CPLANE1
Phenotype: Central Y-shaped metacarpal (HP:0006145)
Associated disease: OROFACIODIGITAL SYNDROME VI (OMIM:277170)
Gene: CPLANE1
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: CPLANE1
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CPLANE1
Phenotype: Muscle weakness (HP:0001324)
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: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CPLANE1
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CPLANE1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: JOUBERT SYNDROME 17 (OMIM:614615)
Gene: CPLANE1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CPLANE1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CPLANE1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: OROFACIODIGITAL SYNDROME VI (OMIM:277170)
Gene: CPLANE1
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: CPLANE1
Phenotype: Tremor (HP:0001337)
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: 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: CPLANE1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CPLANE1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CPLANE1
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: CPLANE1
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: OROFACIODIGITAL SYNDROME VI (OMIM:277170)
Gene: CPLANE1
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: CPLANE1
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: CPLANE1
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CPLANE1
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CPLANE1
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CPLANE1
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CPLANE1
Phenotype: Lobulated tongue (HP:0000180)
Associated disease: OROFACIODIGITAL SYNDROME VI (OMIM:277170)
Gene: CPLANE1
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: CPLANE1
Phenotype: Tongue nodules (HP:0000199)
Associated disease: OROFACIODIGITAL SYNDROME VI (OMIM:277170)
Gene: CPLANE1
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: CPLANE1
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CPLANE1
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: CPLANE1
Phenotype: Accessory oral frenulum (HP:0000191)
Associated disease: OROFACIODIGITAL SYNDROME VI (OMIM:277170)
Gene: CPLANE1
Phenotype: Cleft palate (HP:0000175)
Associated disease: OROFACIODIGITAL SYNDROME VI (OMIM:277170)
Gene: CPLANE1
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CPLANE1
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: CPLANE1
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CPLANE1
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CPLANE1
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: CPLANE1
Phenotype: Renal dysplasia (HP:0000110)
Associated disease: OROFACIODIGITAL SYNDROME VI (OMIM:277170)
Gene: CPLANE1
Phenotype: Renal agenesis (HP:0000104)
Associated disease: OROFACIODIGITAL SYNDROME VI (OMIM:277170)