TaoMedAI/RareMedData huggingface dataset:
Gene: PDE6C
Phenotype: Absent foveal reflex (HP:0030825)
Associated disease: Rod monochromatism; ACHM; Complete or incomplete color blindness; Achromatopsia; Total color blindness; Pingelapese blindness; Rod monochromacy (ORPHA:49382)
Gene: PDE6C
Phenotype: Absent foveal reflex (HP:0030825)
Associated disease: CONE DYSTROPHY 4 (OMIM:613093)
Gene: PDE6C
Phenotype: Retinal pigment epithelial atrophy (HP:0007722)
Associated disease: Rod monochromatism; ACHM; Complete or incomplete color blindness; Achromatopsia; Total color blindness; Pingelapese blindness; Rod monochromacy (ORPHA:49382)
Gene: PDE6C
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Cone dystrophy; Progressive cone dystrophy (ORPHA:1871)
Gene: PDE6C
Phenotype: Eccentric visual fixation (HP:0025549)
Associated disease: Rod monochromatism; ACHM; Complete or incomplete color blindness; Achromatopsia; Total color blindness; Pingelapese blindness; Rod monochromacy (ORPHA:49382)
Gene: PDE6C
Phenotype: Hypoplasia of the fovea (HP:0007750)
Associated disease: Rod monochromatism; ACHM; Complete or incomplete color blindness; Achromatopsia; Total color blindness; Pingelapese blindness; Rod monochromacy (ORPHA:49382)
Gene: PDE6C
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PDE6C
Phenotype: Abnormal pupillary light reflex (HP:0007695)
Associated disease: Rod monochromatism; ACHM; Complete or incomplete color blindness; Achromatopsia; Total color blindness; Pingelapese blindness; Rod monochromacy (ORPHA:49382)
Gene: PDE6C
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PDE6C
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: Rod monochromatism; ACHM; Complete or incomplete color blindness; Achromatopsia; Total color blindness; Pingelapese blindness; Rod monochromacy (ORPHA:49382)
Gene: PDE6C
Phenotype: Retinal pigment epithelial mottling (HP:0007814)
Associated disease: Rod monochromatism; ACHM; Complete or incomplete color blindness; Achromatopsia; Total color blindness; Pingelapese blindness; Rod monochromacy (ORPHA:49382)
Gene: PDE6C
Phenotype: Monochromacy (HP:0007803)
Associated disease: Rod monochromatism; ACHM; Complete or incomplete color blindness; Achromatopsia; Total color blindness; Pingelapese blindness; Rod monochromacy (ORPHA:49382)
Gene: PDE6C
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PDE6C
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: Cone dystrophy; Progressive cone dystrophy (ORPHA:1871)
Gene: PDE6C
Phenotype: Visual impairment (HP:0000505)
Associated disease: Cone dystrophy; Progressive cone dystrophy (ORPHA:1871)
Gene: PDE6C
Phenotype: Visual impairment (HP:0000505)
Associated disease: CONE DYSTROPHY 4 (OMIM:613093)
Gene: PDE6C
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PDE6C
Phenotype: Hypermetropia (HP:0000540)
Associated disease: Rod monochromatism; ACHM; Complete or incomplete color blindness; Achromatopsia; Total color blindness; Pingelapese blindness; Rod monochromacy (ORPHA:49382)
Gene: PDE6C
Phenotype: Abnormality of refraction (HP:0000539)
Associated disease: Rod monochromatism; ACHM; Complete or incomplete color blindness; Achromatopsia; Total color blindness; Pingelapese blindness; Rod monochromacy (ORPHA:49382)
Gene: PDE6C
Phenotype: Color vision defect (HP:0000551)
Associated disease: Cone dystrophy; Progressive cone dystrophy (ORPHA:1871)
Gene: PDE6C
Phenotype: Color vision defect (HP:0000551)
Associated disease: Rod monochromatism; ACHM; Complete or incomplete color blindness; Achromatopsia; Total color blindness; Pingelapese blindness; Rod monochromacy (ORPHA:49382)
Gene: PDE6C
Phenotype: Cone/cone-rod dystrophy (HP:0000548)
Associated disease: CONE DYSTROPHY 4 (OMIM:613093)
Gene: PDE6C
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PDE6C
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PDE6C
Phenotype: Myopia (HP:0000545)
Associated disease: Rod monochromatism; ACHM; Complete or incomplete color blindness; Achromatopsia; Total color blindness; Pingelapese blindness; Rod monochromacy (ORPHA:49382)
Gene: PDE6D
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: PDE6D
Phenotype: Postaxial hand polydactyly (HP:0001162)
Associated disease: JOUBERT SYNDROME 22 (OMIM:615665)
Gene: PDE6D
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: PDE6D
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: PDE6D
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: PDE6D
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: PDE6D
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: PDE6D
Phenotype: Molar tooth sign on MRI (HP:0002419)
Associated disease: JOUBERT SYNDROME 22 (OMIM:615665)
Gene: PDE6D
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: JOUBERT SYNDROME 22 (OMIM:615665)
Gene: PDE6D
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: PDE6D
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: PDE6D
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: PDE6D
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: PDE6D
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: PDE6D
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: PDE6D
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: PDE6D
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: PDE6D
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: PDE6D
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: PDE6D
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: PDE6D
Phenotype: Global developmental delay (HP:0001263)
Associated disease: JOUBERT SYNDROME 22 (OMIM:615665)
Gene: PDE6D
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: PDE6D
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: PDE6D
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: PDE6D
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: PDE6D
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: PDE6D
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: PDE6D
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: PDE6D
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: PDE6D
Phenotype: Renal hypoplasia (HP:0000089)
Associated disease: JOUBERT SYNDROME 22 (OMIM:615665)
Gene: PDE6D
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: PDE6D
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: PDE6D
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: PDE6D
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: JOUBERT SYNDROME 22 (OMIM:615665)
Gene: PDE6D
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: PDE6D
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: PDE6D
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: PDE6D
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: PDE6D
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: PDE6D
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: PDE6D
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: PDE6D
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: PDE6D
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: PDE6D
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: PDE6D
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: PDE6D
Phenotype: 2-3 toe syndactyly (HP:0004691)
Associated disease: JOUBERT SYNDROME 22 (OMIM:615665)
Gene: PDE6D
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: PDE6D
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: PDE6D
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: PDE6D
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: PDE6D
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: JOUBERT SYNDROME 22 (OMIM:615665)
Gene: PDE6D
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: PDE6D
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: PDE6D
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: PDE6D
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: PDE6D
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: PDE6D
Phenotype: Congenital onset (HP:0003577)
Associated disease: JOUBERT SYNDROME 22 (OMIM:615665)
Gene: PDE6D
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: PDE6D
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: PDE6D
Phenotype: Agenesis of cerebellar vermis (HP:0002335)
Associated disease: JOUBERT SYNDROME 22 (OMIM:615665)
Gene: PDE6D
Phenotype: Temporal cortical atrophy (HP:0007112)
Associated disease: JOUBERT SYNDROME 22 (OMIM:615665)
Gene: PDE6D
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: PDE6D
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: PDE6D
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: PDE6D
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: PDE6D
Phenotype: Oculomotor apraxia (HP:0000657)
Associated disease: JOUBERT SYNDROME 22 (OMIM:615665)
Gene: PDE6D
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: PDE6D
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: JOUBERT SYNDROME 22 (OMIM:615665)
Gene: PDE6D
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: PDE6D
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: PDE6D
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)