TaoMedAI/RareMedData huggingface dataset:
Gene: PEX1
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) (OMIM:214100)
Gene: PEX1
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: PEROXISOME BIOGENESIS DISORDER 1B (OMIM:601539)
Gene: PEX1
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX1
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX1
Phenotype: Flat occiput (HP:0005469)
Associated disease: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) (OMIM:214100)
Gene: PEX1
Phenotype: Flat occiput (HP:0005469)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX1
Phenotype: Cataract (HP:0000518)
Associated disease: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) (OMIM:214100)
Gene: PEX1
Phenotype: Cataract (HP:0000518)
Associated disease: Infantile Refsum disease; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder; IRD; Mild PBD-ZSD (ORPHA:772)
Gene: PEX1
Phenotype: Cataract (HP:0000518)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX1
Phenotype: Cataract (HP:0000518)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX1
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PEX1
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: PEROXISOME BIOGENESIS DISORDER 1B (OMIM:601539)
Gene: PEX1
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: Infantile Refsum disease; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder; IRD; Mild PBD-ZSD (ORPHA:772)
Gene: PEX1
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) (OMIM:214100)
Gene: PEX1
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) (OMIM:214100)
Gene: PEX1
Phenotype: Beau's lines (HP:0041093)
Associated disease: HEIMLER SYNDROME 1 (OMIM:234580)
Gene: PEX1
Phenotype: Leukonychia (HP:0001820)
Associated disease: HEIMLER SYNDROME 1 (OMIM:234580)
Gene: PEX1
Phenotype: Rocker bottom foot (HP:0001838)
Associated disease: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) (OMIM:214100)
Gene: PEX1
Phenotype: Ptosis (HP:0000508)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX1
Phenotype: Visual impairment (HP:0000505)
Associated disease: Infantile Refsum disease; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder; IRD; Mild PBD-ZSD (ORPHA:772)
Gene: PEX1
Phenotype: Visual impairment (HP:0000505)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX1
Phenotype: Visual impairment (HP:0000505)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX1
Phenotype: Glaucoma (HP:0000501)
Associated disease: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) (OMIM:214100)
Gene: PEX1
Phenotype: Glaucoma (HP:0000501)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX1
Phenotype: Albuminuria (HP:0012592)
Associated disease: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) (OMIM:214100)
Gene: PEX1
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) (OMIM:214100)
Gene: PEX1
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX1
Phenotype: Pigmentary retinopathy (HP:0000580)
Associated disease: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) (OMIM:214100)
Gene: PEX1
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PEX1
Phenotype: Abnormal chorioretinal morphology (HP:0000532)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX1
Phenotype: Abnormal eyebrow morphology (HP:0000534)
Associated disease: Deafness-enamel hypoplasia-nail defects syndrome; Heimler syndrome; Hearing loss-enamel hypoplasia-nail defects syndrome (ORPHA:3220)
Gene: PEX1
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) (OMIM:214100)
Gene: PEX1
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PEX1
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PEX6
Phenotype: Large hands (HP:0001176)
Associated disease: Deafness-enamel hypoplasia-nail defects syndrome; Heimler syndrome; Hearing loss-enamel hypoplasia-nail defects syndrome (ORPHA:3220)
Gene: PEX6
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PEX6
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: Infantile Refsum disease; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder; IRD; Mild PBD-ZSD (ORPHA:772)
Gene: PEX6
Phenotype: Spastic dysarthria (HP:0002464)
Associated disease: Autosomal recessive spinocerebellar ataxia type 3; SCAR3; Autosomal recessive spinocerebellar ataxia-blindness-hearing loss syndrome; SCABD; Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome (ORPHA:95433)
Gene: PEX6
Phenotype: Pili torti (HP:0003777)
Associated disease: Deafness-enamel hypoplasia-nail defects syndrome; Heimler syndrome; Hearing loss-enamel hypoplasia-nail defects syndrome (ORPHA:3220)
Gene: PEX6
Phenotype: Spinocerebellar atrophy (HP:0007263)
Associated disease: Autosomal recessive spinocerebellar ataxia type 3; SCAR3; Autosomal recessive spinocerebellar ataxia-blindness-hearing loss syndrome; SCABD; Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome (ORPHA:95433)
Gene: PEX6
Phenotype: High anterior hairline (HP:0009890)
Associated disease: Deafness-enamel hypoplasia-nail defects syndrome; Heimler syndrome; Hearing loss-enamel hypoplasia-nail defects syndrome (ORPHA:3220)
Gene: PEX6
Phenotype: Underdeveloped supraorbital ridges (HP:0009891)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX6
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PEX6
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PEX6
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER) (OMIM:614862)
Gene: PEX6
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: PEROXISOME BIOGENESIS DISORDER 4B (OMIM:614863)
Gene: PEX6
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Autosomal recessive spinocerebellar ataxia type 3; SCAR3; Autosomal recessive spinocerebellar ataxia-blindness-hearing loss syndrome; SCABD; Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome (ORPHA:95433)
Gene: PEX6
Phenotype: Gait disturbance (HP:0001288)
Associated disease: PEROXISOME BIOGENESIS DISORDER 4B (OMIM:614863)
Gene: PEX6
Phenotype: Seizure (HP:0001250)
Associated disease: Infantile Refsum disease; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder; IRD; Mild PBD-ZSD (ORPHA:772)
Gene: PEX6
Phenotype: Seizure (HP:0001250)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX6
Phenotype: Seizure (HP:0001250)
Associated disease: PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER) (OMIM:614862)
Gene: PEX6
Phenotype: Seizure (HP:0001250)
Associated disease: PEROXISOME BIOGENESIS DISORDER 4B (OMIM:614863)
Gene: PEX6
Phenotype: Seizure (HP:0001250)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX6
Phenotype: Hypotonia (HP:0001252)
Associated disease: Infantile Refsum disease; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder; IRD; Mild PBD-ZSD (ORPHA:772)
Gene: PEX6
Phenotype: Hypotonia (HP:0001252)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX6
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PEX6
Phenotype: Ataxia (HP:0001251)
Associated disease: Infantile Refsum disease; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder; IRD; Mild PBD-ZSD (ORPHA:772)
Gene: PEX6
Phenotype: Ataxia (HP:0001251)
Associated disease: PEROXISOME BIOGENESIS DISORDER 4B (OMIM:614863)
Gene: PEX6
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Deafness-enamel hypoplasia-nail defects syndrome; Heimler syndrome; Hearing loss-enamel hypoplasia-nail defects syndrome (ORPHA:3220)
Gene: PEX6
Phenotype: Intellectual disability (HP:0001249)
Associated disease: PEROXISOME BIOGENESIS DISORDER 4B (OMIM:614863)
Gene: PEX6
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PEX6
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: Deafness-enamel hypoplasia-nail defects syndrome; Heimler syndrome; Hearing loss-enamel hypoplasia-nail defects syndrome (ORPHA:3220)
Gene: PEX6
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Infantile Refsum disease; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder; IRD; Mild PBD-ZSD (ORPHA:772)
Gene: PEX6
Phenotype: Global developmental delay (HP:0001263)
Associated disease: PEROXISOME BIOGENESIS DISORDER 4B (OMIM:614863)
Gene: PEX6
Phenotype: Global developmental delay (HP:0001263)
Associated disease: HEIMLER SYNDROME 2 (OMIM:616617)
Gene: PEX6
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PEX6
Phenotype: Spasticity (HP:0001257)
Associated disease: Infantile Refsum disease; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder; IRD; Mild PBD-ZSD (ORPHA:772)
Gene: PEX6
Phenotype: Abnormal fingernail morphology (HP:0001231)
Associated disease: Deafness-enamel hypoplasia-nail defects syndrome; Heimler syndrome; Hearing loss-enamel hypoplasia-nail defects syndrome (ORPHA:3220)
Gene: PEX6
Phenotype: Clitoral hypertrophy (HP:0008665)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX6
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PEX6
Phenotype: Cerebral calcification (HP:0002514)
Associated disease: Deafness-enamel hypoplasia-nail defects syndrome; Heimler syndrome; Hearing loss-enamel hypoplasia-nail defects syndrome (ORPHA:3220)
Gene: PEX6
Phenotype: Increased circulating very long-chain fatty acid concentration (HP:0033643)
Associated disease: PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER) (OMIM:614862)
Gene: PEX6
Phenotype: Hepatic failure (HP:0001399)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX6
Phenotype: Abnormality of the liver (HP:0001392)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX6
Phenotype: Ureterocele (HP:0000070)
Associated disease: PEROXISOME BIOGENESIS DISORDER 4B (OMIM:614863)
Gene: PEX6
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PEX6
Phenotype: Hypospadias (HP:0000047)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX6
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX6
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PEX6
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX6
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PEX6
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER) (OMIM:614862)
Gene: PEX6
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX6
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PEX6
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PEX6
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PEX6
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PEX6
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PEX6
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER) (OMIM:614862)
Gene: PEX6
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PEROXISOME BIOGENESIS DISORDER 4B (OMIM:614863)
Gene: PEX6
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HEIMLER SYNDROME 2 (OMIM:616617)
Gene: PEX6
Phenotype: Multicystic kidney dysplasia (HP:0000003)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX6
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PEX6
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PEX6
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PEROXISOME BIOGENESIS DISORDER 4B (OMIM:614863)
Gene: PEX6
Phenotype: Skeletal dysplasia (HP:0002652)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX6
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PEX6
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: PEROXISOME BIOGENESIS DISORDER 4B (OMIM:614863)
Gene: PEX6
Phenotype: Reduced tendon reflexes (HP:0001315)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX6
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PEX6
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PEX6
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PEX6
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PEX6
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: Deafness-enamel hypoplasia-nail defects syndrome; Heimler syndrome; Hearing loss-enamel hypoplasia-nail defects syndrome (ORPHA:3220)
Gene: PEX6
Phenotype: Abnormality of the tongue (HP:0000157)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX6
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PEX6
Phenotype: Abnormal palate morphology (HP:0000174)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX6
Phenotype: Hypogonadism (HP:0000135)
Associated disease: Deafness-enamel hypoplasia-nail defects syndrome; Heimler syndrome; Hearing loss-enamel hypoplasia-nail defects syndrome (ORPHA:3220)
Gene: PEX6
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PEX6
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PEX6
Phenotype: Generalized neonatal hypotonia (HP:0008935)
Associated disease: PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER) (OMIM:614862)
Gene: PEX6
Phenotype: Bilateral single transverse palmar creases (HP:0007598)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX6
Phenotype: Elevated circulating alpha-fetoprotein concentration (HP:0006254)
Associated disease: Autosomal recessive spinocerebellar ataxia type 3; SCAR3; Autosomal recessive spinocerebellar ataxia-blindness-hearing loss syndrome; SCABD; Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome (ORPHA:95433)
Gene: PEX6
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX6
Phenotype: Renal cyst (HP:0000107)
Associated disease: PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER) (OMIM:614862)
Gene: PEX6
Phenotype: Decreased liver function (HP:0001410)
Associated disease: PEROXISOME BIOGENESIS DISORDER 4B (OMIM:614863)
Gene: PEX6
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: Deafness-enamel hypoplasia-nail defects syndrome; Heimler syndrome; Hearing loss-enamel hypoplasia-nail defects syndrome (ORPHA:3220)
Gene: PEX6
Phenotype: Malabsorption (HP:0002024)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX6
Phenotype: Pyloric stenosis (HP:0002021)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX6
Phenotype: Progressive muscle weakness (HP:0003323)
Associated disease: Infantile Refsum disease; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder; IRD; Mild PBD-ZSD (ORPHA:772)
Gene: PEX6
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX6
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX6
Phenotype: Gait ataxia (HP:0002066)
Associated disease: Autosomal recessive spinocerebellar ataxia type 3; SCAR3; Autosomal recessive spinocerebellar ataxia-blindness-hearing loss syndrome; SCABD; Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome (ORPHA:95433)
Gene: PEX6
Phenotype: Progressive cerebellar ataxia (HP:0002073)
Associated disease: Autosomal recessive spinocerebellar ataxia type 3; SCAR3; Autosomal recessive spinocerebellar ataxia-blindness-hearing loss syndrome; SCABD; Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome (ORPHA:95433)
Gene: PEX6
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PEX6
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PEX6
Phenotype: Abnormal epiphysis morphology (HP:0005930)
Associated disease: Infantile Refsum disease; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder; IRD; Mild PBD-ZSD (ORPHA:772)
Gene: PEX6
Phenotype: Mildly elevated creatine kinase (HP:0008180)
Associated disease: Autosomal recessive spinocerebellar ataxia type 3; SCAR3; Autosomal recessive spinocerebellar ataxia-blindness-hearing loss syndrome; SCABD; Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome (ORPHA:95433)
Gene: PEX6
Phenotype: Very long chain fatty acid accumulation (HP:0008167)
Associated disease: Infantile Refsum disease; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder; IRD; Mild PBD-ZSD (ORPHA:772)
Gene: PEX6
Phenotype: Very long chain fatty acid accumulation (HP:0008167)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX6
Phenotype: Polymicrogyria (HP:0002126)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX6
Phenotype: Impaired vibration sensation in the lower limbs (HP:0002166)
Associated disease: Autosomal recessive spinocerebellar ataxia type 3; SCAR3; Autosomal recessive spinocerebellar ataxia-blindness-hearing loss syndrome; SCABD; Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome (ORPHA:95433)
Gene: PEX6
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: Deafness-enamel hypoplasia-nail defects syndrome; Heimler syndrome; Hearing loss-enamel hypoplasia-nail defects syndrome (ORPHA:3220)
Gene: PEX6
Phenotype: Elevated circulating phytanic acid concentration (HP:0010571)
Associated disease: Infantile Refsum disease; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder; IRD; Mild PBD-ZSD (ORPHA:772)
Gene: PEX6
Phenotype: Absence of peroxisomes (HP:0034553)
Associated disease: PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER) (OMIM:614862)
Gene: PEX6
Phenotype: Muscle flaccidity (HP:0010547)
Associated disease: Deafness-enamel hypoplasia-nail defects syndrome; Heimler syndrome; Hearing loss-enamel hypoplasia-nail defects syndrome (ORPHA:3220)
Gene: PEX6
Phenotype: Primary adrenal insufficiency (HP:0008207)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX6
Phenotype: Primary adrenal insufficiency (HP:0008207)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX6
Phenotype: Abnormality of neuronal migration (HP:0002269)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)