TaoMedAI/RareMedData huggingface dataset:
Gene: MERTK
Phenotype: Retinal atrophy (HP:0001105)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: MERTK
Phenotype: Macular atrophy (HP:0007401)
Associated disease: RETINITIS PIGMENTOSA 38 (OMIM:613862)
Gene: MERTK
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MERTK
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 38 (OMIM:613862)
Gene: MERTK
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MERTK
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MERTK
Phenotype: Progressive night blindness (HP:0007675)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: MERTK
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MERTK
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: MERTK
Phenotype: Peripheral retinal atrophy (HP:0200070)
Associated disease: RETINITIS PIGMENTOSA 38 (OMIM:613862)
Gene: MERTK
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MERTK
Phenotype: Nystagmus (HP:0000639)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: MERTK
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: MERTK
Phenotype: Blindness (HP:0000618)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: MERTK
Phenotype: Photophobia (HP:0000613)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: MERTK
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: MERTK
Phenotype: Abnormal full-field electroretinogram (HP:0030466)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: MERTK
Phenotype: Abnormal central response of multifocal electroretinogram (HP:0030488)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: MERTK
Phenotype: Nyctalopia (HP:0000662)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: MERTK
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 38 (OMIM:613862)
Gene: MERTK
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MERTK
Phenotype: Photoreceptor outer segment loss on macular OCT (HP:0030610)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: MERTK
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MERTK
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 38 (OMIM:613862)
Gene: MERTK
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MERTK
Phenotype: Photopsia (HP:0030786)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: MERTK
Phenotype: Cystoid macular edema (HP:0011505)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: MERTK
Phenotype: Hyperinsulinemia (HP:0000842)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: MERTK
Phenotype: Abnormal retinal vascular morphology (HP:0008046)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: MERTK
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: MERTK
Phenotype: Posterior subcapsular cataract (HP:0007787)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: MERTK
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: MERTK
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MERTK
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: MERTK
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MERTK
Phenotype: Peripheral visual field loss (HP:0007994)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: MERTK
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: MERTK
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: MERTK
Phenotype: Optic disc drusen (HP:0012426)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: MERTK
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 38 (OMIM:613862)
Gene: MERTK
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MERTK
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: MERTK
Phenotype: Progressive visual loss (HP:0000529)
Associated disease: RETINITIS PIGMENTOSA 38 (OMIM:613862)
Gene: MERTK
Phenotype: Visual impairment (HP:0000505)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: MERTK
Phenotype: Glaucoma (HP:0000501)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: MERTK
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MERTK
Phenotype: Keratoconus (HP:0000563)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: MERTK
Phenotype: Color vision defect (HP:0000551)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: MERTK
Phenotype: Retinal degeneration (HP:0000546)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: MERTK
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: MERTK
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 38 (OMIM:613862)
Gene: MERTK
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MERTK
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SLC30A9
Phenotype: Single umbilical artery (HP:0001195)
Associated disease: BIRK-LANDAU-PEREZ SYNDROME (OMIM:617595)
Gene: SLC30A9
Phenotype: Increased circulating creatine kinase MB isoform (HP:0032232)
Associated disease: BIRK-LANDAU-PEREZ SYNDROME (OMIM:617595)
Gene: SLC30A9
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: BIRK-LANDAU-PEREZ SYNDROME (OMIM:617595)
Gene: SLC30A9
Phenotype: Gait disturbance (HP:0001288)
Associated disease: BIRK-LANDAU-PEREZ SYNDROME (OMIM:617595)
Gene: SLC30A9
Phenotype: Choreoathetosis (HP:0001266)
Associated disease: BIRK-LANDAU-PEREZ SYNDROME (OMIM:617595)
Gene: SLC30A9
Phenotype: Global developmental delay (HP:0001263)
Associated disease: BIRK-LANDAU-PEREZ SYNDROME (OMIM:617595)
Gene: SLC30A9
Phenotype: Limb hypertonia (HP:0002509)
Associated disease: BIRK-LANDAU-PEREZ SYNDROME (OMIM:617595)
Gene: SLC30A9
Phenotype: Renal hypoplasia (HP:0000089)
Associated disease: BIRK-LANDAU-PEREZ SYNDROME (OMIM:617595)
Gene: SLC30A9
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: BIRK-LANDAU-PEREZ SYNDROME (OMIM:617595)
Gene: SLC30A9
Phenotype: Dystonia (HP:0001332)
Associated disease: BIRK-LANDAU-PEREZ SYNDROME (OMIM:617595)
Gene: SLC30A9
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: BIRK-LANDAU-PEREZ SYNDROME (OMIM:617595)
Gene: SLC30A9
Phenotype: Pachygyria (HP:0001302)
Associated disease: BIRK-LANDAU-PEREZ SYNDROME (OMIM:617595)
Gene: SLC30A9
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: BIRK-LANDAU-PEREZ SYNDROME (OMIM:617595)
Gene: SLC30A9
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: BIRK-LANDAU-PEREZ SYNDROME (OMIM:617595)
Gene: SLC30A9
Phenotype: Limb ataxia (HP:0002070)
Associated disease: BIRK-LANDAU-PEREZ SYNDROME (OMIM:617595)
Gene: SLC30A9
Phenotype: Camptocormia (HP:0100595)
Associated disease: BIRK-LANDAU-PEREZ SYNDROME (OMIM:617595)
Gene: SLC30A9
Phenotype: Hyperkalemia (HP:0002153)
Associated disease: BIRK-LANDAU-PEREZ SYNDROME (OMIM:617595)
Gene: SLC30A9
Phenotype: Hyperechogenic kidneys (HP:0004719)
Associated disease: BIRK-LANDAU-PEREZ SYNDROME (OMIM:617595)
Gene: SLC30A9
Phenotype: Infantile onset (HP:0003593)
Associated disease: BIRK-LANDAU-PEREZ SYNDROME (OMIM:617595)
Gene: SLC30A9
Phenotype: Arachnoid cyst (HP:0100702)
Associated disease: BIRK-LANDAU-PEREZ SYNDROME (OMIM:617595)
Gene: SLC30A9
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: BIRK-LANDAU-PEREZ SYNDROME (OMIM:617595)
Gene: SLC30A9
Phenotype: Developmental regression (HP:0002376)
Associated disease: BIRK-LANDAU-PEREZ SYNDROME (OMIM:617595)
Gene: SLC30A9
Phenotype: Dyskinesia (HP:0100660)
Associated disease: BIRK-LANDAU-PEREZ SYNDROME (OMIM:617595)
Gene: SLC30A9
Phenotype: Juvenile onset (HP:0003621)
Associated disease: BIRK-LANDAU-PEREZ SYNDROME (OMIM:617595)
Gene: SLC30A9
Phenotype: Tubulointerstitial nephritis (HP:0001970)
Associated disease: BIRK-LANDAU-PEREZ SYNDROME (OMIM:617595)
Gene: SLC30A9
Phenotype: Stage 3 chronic kidney disease (HP:0012625)
Associated disease: BIRK-LANDAU-PEREZ SYNDROME (OMIM:617595)
Gene: SLC30A9
Phenotype: Optic atrophy (HP:0000648)
Associated disease: BIRK-LANDAU-PEREZ SYNDROME (OMIM:617595)
Gene: SLC30A9
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: BIRK-LANDAU-PEREZ SYNDROME (OMIM:617595)
Gene: SLC30A9
Phenotype: Oculomotor apraxia (HP:0000657)
Associated disease: BIRK-LANDAU-PEREZ SYNDROME (OMIM:617595)
Gene: SLC30A9
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: BIRK-LANDAU-PEREZ SYNDROME (OMIM:617595)
Gene: SLC30A9
Phenotype: Childhood onset (HP:0011463)
Associated disease: BIRK-LANDAU-PEREZ SYNDROME (OMIM:617595)
Gene: SLC30A9
Phenotype: Fetal onset (HP:0011461)
Associated disease: BIRK-LANDAU-PEREZ SYNDROME (OMIM:617595)
Gene: SLC30A9
Phenotype: Hypertension (HP:0000822)
Associated disease: BIRK-LANDAU-PEREZ SYNDROME (OMIM:617595)
Gene: SLC30A9
Phenotype: Facial hypotonia (HP:0000297)
Associated disease: BIRK-LANDAU-PEREZ SYNDROME (OMIM:617595)
Gene: SLC30A9
Phenotype: Microcephaly (HP:0000252)
Associated disease: BIRK-LANDAU-PEREZ SYNDROME (OMIM:617595)
Gene: SLC30A9
Phenotype: Failure to thrive in infancy (HP:0001531)
Associated disease: BIRK-LANDAU-PEREZ SYNDROME (OMIM:617595)
Gene: SLC30A9
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: BIRK-LANDAU-PEREZ SYNDROME (OMIM:617595)
Gene: SLC30A9
Phenotype: Growth delay (HP:0001510)
Associated disease: BIRK-LANDAU-PEREZ SYNDROME (OMIM:617595)
Gene: SLC30A9
Phenotype: Appendicular hypotonia (HP:0012389)
Associated disease: BIRK-LANDAU-PEREZ SYNDROME (OMIM:617595)
Gene: SLC30A9
Phenotype: Progressive sensorineural hearing impairment (HP:0000408)
Associated disease: BIRK-LANDAU-PEREZ SYNDROME (OMIM:617595)
Gene: SLC30A9
Phenotype: Strabismus (HP:0000486)
Associated disease: BIRK-LANDAU-PEREZ SYNDROME (OMIM:617595)
Gene: SLC30A9
Phenotype: Long eyelashes (HP:0000527)
Associated disease: BIRK-LANDAU-PEREZ SYNDROME (OMIM:617595)
Gene: SLC30A9
Phenotype: Ptosis (HP:0000508)
Associated disease: BIRK-LANDAU-PEREZ SYNDROME (OMIM:617595)
Gene: SLC30A9
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: BIRK-LANDAU-PEREZ SYNDROME (OMIM:617595)
Gene: PIBF1
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: PIBF1
Phenotype: Syndactyly (HP:0001159)
Associated disease: JOUBERT SYNDROME 33 (OMIM:617767)
Gene: PIBF1
Phenotype: Molar tooth sign on MRI (HP:0002419)
Associated disease: JOUBERT SYNDROME 33 (OMIM:617767)
Gene: PIBF1
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: PIBF1
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: PIBF1
Phenotype: Hypotonia (HP:0001252)
Associated disease: JOUBERT SYNDROME 33 (OMIM:617767)
Gene: PIBF1
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: PIBF1
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: PIBF1
Phenotype: Ataxia (HP:0001251)
Associated disease: JOUBERT SYNDROME 33 (OMIM:617767)
Gene: PIBF1
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: PIBF1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: JOUBERT SYNDROME 33 (OMIM:617767)
Gene: PIBF1
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: PIBF1
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: PIBF1
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: PIBF1
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: PIBF1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: JOUBERT SYNDROME 33 (OMIM:617767)
Gene: PIBF1
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: PIBF1
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: PIBF1
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: PIBF1
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: PIBF1
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: PIBF1
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: PIBF1
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: PIBF1
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: PIBF1
Phenotype: Apnea (HP:0002104)
Associated disease: JOUBERT SYNDROME 33 (OMIM:617767)
Gene: PIBF1
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: JOUBERT SYNDROME 33 (OMIM:617767)
Gene: PIBF1
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: PIBF1
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: PIBF1
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: PIBF1
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: PIBF1
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: PIBF1
Phenotype: Oculomotor apraxia (HP:0000657)
Associated disease: JOUBERT SYNDROME 33 (OMIM:617767)
Gene: PIBF1
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: PIBF1
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: PIBF1
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: PIBF1
Phenotype: Macrocephaly (HP:0000256)
Associated disease: JOUBERT SYNDROME 33 (OMIM:617767)
Gene: PIBF1
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: PIBF1
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: PIBF1
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: PIBF1
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: PIBF1
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: PIBF1
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: PIBF1
Phenotype: Strabismus (HP:0000486)
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: PIBF1
Phenotype: Anteverted nares (HP:0000463)
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: PIBF1
Phenotype: Splenomegaly (HP:0001744)
Associated disease: JOUBERT SYNDROME 33 (OMIM:617767)
Gene: PIBF1
Phenotype: Prominent nasal bridge (HP:0000426)
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: PIBF1
Phenotype: Foot polydactyly (HP:0001829)
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: PIBF1
Phenotype: Ptosis (HP:0000508)
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: PIBF1
Phenotype: Cone/cone-rod dystrophy (HP:0000548)
Associated disease: JOUBERT SYNDROME 33 (OMIM:617767)
Gene: COG5
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: CDG-IIi; Congenital disorder of glycosylation type 2i; COG5-CDG; Congenital disorder of glycosylation type IIi; Carbohydrate deficient glycoprotein syndrome type IIi; CDG2I; CDG syndrome type IIi (ORPHA:263487)
Gene: COG5
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: CDG-IIi; Congenital disorder of glycosylation type 2i; COG5-CDG; Congenital disorder of glycosylation type IIi; Carbohydrate deficient glycoprotein syndrome type IIi; CDG2I; CDG syndrome type IIi (ORPHA:263487)
Gene: COG5
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIi (OMIM:613612)
Gene: COG5
Phenotype: Motor delay (HP:0001270)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIi (OMIM:613612)
Gene: COG5
Phenotype: Motor delay (HP:0001270)
Associated disease: CDG-IIi; Congenital disorder of glycosylation type 2i; COG5-CDG; Congenital disorder of glycosylation type IIi; Carbohydrate deficient glycoprotein syndrome type IIi; CDG2I; CDG syndrome type IIi (ORPHA:263487)
Gene: COG5
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: CDG-IIi; Congenital disorder of glycosylation type 2i; COG5-CDG; Congenital disorder of glycosylation type IIi; Carbohydrate deficient glycoprotein syndrome type IIi; CDG2I; CDG syndrome type IIi (ORPHA:263487)
Gene: COG5
Phenotype: Seizure (HP:0001250)
Associated disease: CDG-IIi; Congenital disorder of glycosylation type 2i; COG5-CDG; Congenital disorder of glycosylation type IIi; Carbohydrate deficient glycoprotein syndrome type IIi; CDG2I; CDG syndrome type IIi (ORPHA:263487)
Gene: COG5
Phenotype: Hypotonia (HP:0001252)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIi (OMIM:613612)
Gene: COG5
Phenotype: Intellectual disability (HP:0001249)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIi (OMIM:613612)
Gene: COG5
Phenotype: Atrophy/Degeneration affecting the brainstem (HP:0007366)
Associated disease: CDG-IIi; Congenital disorder of glycosylation type 2i; COG5-CDG; Congenital disorder of glycosylation type IIi; Carbohydrate deficient glycoprotein syndrome type IIi; CDG2I; CDG syndrome type IIi (ORPHA:263487)
Gene: COG5
Phenotype: Atrophy/Degeneration affecting the brainstem (HP:0007366)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIi (OMIM:613612)