TaoMedAI/RareMedData huggingface dataset:
Gene: PEX10
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Infantile Refsum disease; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder; IRD; Mild PBD-ZSD (ORPHA:772)
Gene: PEX10
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX10
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: PEROXISOME BIOGENESIS DISORDER 6B (OMIM:614871)
Gene: PEX10
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX10
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX10
Phenotype: Strabismus (HP:0000486)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX10
Phenotype: Anteverted nares (HP:0000463)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX10
Phenotype: Thickened nuchal skin fold (HP:0000474)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX10
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: PEROXISOME BIOGENESIS DISORDER 6A (ZELLWEGER) (OMIM:614870)
Gene: PEX10
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX10
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: PEX10
Phenotype: Pes cavus (HP:0001761)
Associated disease: Autosomal recessive ataxia due to PEX10 deficiency; Mild peroxisomal disorder due to PEX10 deficiency (ORPHA:247815)
Gene: PEX10
Phenotype: Pes cavus (HP:0001761)
Associated disease: PEROXISOME BIOGENESIS DISORDER 6B (OMIM:614871)
Gene: PEX10
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: PEX10
Phenotype: Cataract (HP:0000518)
Associated disease: Infantile Refsum disease; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder; IRD; Mild PBD-ZSD (ORPHA:772)
Gene: PEX10
Phenotype: Cataract (HP:0000518)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX10
Phenotype: Cataract (HP:0000518)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX10
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: PEX10
Phenotype: Ptosis (HP:0000508)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX10
Phenotype: Visual impairment (HP:0000505)
Associated disease: Infantile Refsum disease; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder; IRD; Mild PBD-ZSD (ORPHA:772)
Gene: PEX10
Phenotype: Visual impairment (HP:0000505)
Associated disease: PEROXISOME BIOGENESIS DISORDER 6B (OMIM:614871)
Gene: PEX10
Phenotype: Visual impairment (HP:0000505)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX10
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: PEX10
Phenotype: Glaucoma (HP:0000501)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX10
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: PEX10
Phenotype: Delayed menarche (HP:0012569)
Associated disease: PEROXISOME BIOGENESIS DISORDER 6B (OMIM:614871)
Gene: PEX10
Phenotype: Retinal dystrophy (HP:0000556)
Associated disease: PEROXISOME BIOGENESIS DISORDER 6B (OMIM:614871)
Gene: PEX10
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: PEX12
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: PEX12
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: PEX12
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER) (OMIM:614859)
Gene: PEX12
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: PEROXISOME BIOGENESIS DISORDER 3B (OMIM:266510)
Gene: PEX12
Phenotype: Polyneuropathy (HP:0001271)
Associated disease: PEROXISOME BIOGENESIS DISORDER 3B (OMIM:266510)
Gene: PEX12
Phenotype: Areflexia (HP:0001284)
Associated disease: PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER) (OMIM:614859)
Gene: PEX12
Phenotype: Areflexia (HP:0001284)
Associated disease: PEROXISOME BIOGENESIS DISORDER 3B (OMIM:266510)
Gene: PEX12
Phenotype: Seizure (HP:0001250)
Associated disease: Infantile Refsum disease; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder; IRD; Mild PBD-ZSD (ORPHA:772)
Gene: PEX12
Phenotype: Seizure (HP:0001250)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX12
Phenotype: Seizure (HP:0001250)
Associated disease: PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER) (OMIM:614859)
Gene: PEX12
Phenotype: Seizure (HP:0001250)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX12
Phenotype: Hypotonia (HP:0001252)
Associated disease: Infantile Refsum disease; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder; IRD; Mild PBD-ZSD (ORPHA:772)
Gene: PEX12
Phenotype: Hypotonia (HP:0001252)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX12
Phenotype: Hypotonia (HP:0001252)
Associated disease: PEROXISOME BIOGENESIS DISORDER 3B (OMIM:266510)
Gene: PEX12
Phenotype: Hypotonia (HP:0001252)
Associated disease: PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER) (OMIM:614859)
Gene: PEX12
Phenotype: Ataxia (HP:0001251)
Associated disease: Infantile Refsum disease; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder; IRD; Mild PBD-ZSD (ORPHA:772)
Gene: PEX12
Phenotype: Ataxia (HP:0001251)
Associated disease: PEROXISOME BIOGENESIS DISORDER 3B (OMIM:266510)
Gene: PEX12
Phenotype: Intellectual disability (HP:0001249)
Associated disease: PEROXISOME BIOGENESIS DISORDER 3B (OMIM:266510)
Gene: PEX12
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: PEROXISOME BIOGENESIS DISORDER 3B (OMIM:266510)
Gene: PEX12
Phenotype: Dysarthria (HP:0001260)
Associated disease: PEROXISOME BIOGENESIS DISORDER 3B (OMIM:266510)
Gene: PEX12
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: PEX12
Phenotype: Global developmental delay (HP:0001263)
Associated disease: PEROXISOME BIOGENESIS DISORDER 3B (OMIM:266510)
Gene: PEX12
Phenotype: Spasticity (HP:0001257)
Associated disease: Infantile Refsum disease; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder; IRD; Mild PBD-ZSD (ORPHA:772)
Gene: PEX12
Phenotype: Steatorrhea (HP:0002570)
Associated disease: PEROXISOME BIOGENESIS DISORDER 3B (OMIM:266510)
Gene: PEX12
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: PEX12
Phenotype: Increased circulating very long-chain fatty acid concentration (HP:0033643)
Associated disease: PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER) (OMIM:614859)
Gene: PEX12
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: PEX12
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: PEX12
Phenotype: Hypospadias (HP:0000047)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX12
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX12
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX12
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER) (OMIM:614859)
Gene: PEX12
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: PEX12
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PEROXISOME BIOGENESIS DISORDER 3B (OMIM:266510)
Gene: PEX12
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER) (OMIM:614859)
Gene: PEX12
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: PEX12
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: PEX12
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: PEX12
Phenotype: Vascular dilatation (HP:0002617)
Associated disease: PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER) (OMIM:614859)
Gene: PEX12
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: PEX12
Phenotype: Abnormal palate morphology (HP:0000174)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX12
Phenotype: Generalized neonatal hypotonia (HP:0008935)
Associated disease: PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER) (OMIM:614859)
Gene: PEX12
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: PEX12
Phenotype: Polycystic kidney dysplasia (HP:0000113)
Associated disease: PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER) (OMIM:614859)
Gene: PEX12
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX12
Phenotype: Malabsorption (HP:0002024)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX12
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: PEX12
Phenotype: Poor suck (HP:0002033)
Associated disease: PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER) (OMIM:614859)
Gene: PEX12
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: PEX12
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: PEX12
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: PEX12
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: PEX12
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: PEX12
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: PEX12
Phenotype: Very long chain fatty acid accumulation (HP:0008167)
Associated disease: PEROXISOME BIOGENESIS DISORDER 3B (OMIM:266510)
Gene: PEX12
Phenotype: Polymicrogyria (HP:0002126)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX12
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: PEX12
Phenotype: Elevated circulating phytanic acid concentration (HP:0010571)
Associated disease: PEROXISOME BIOGENESIS DISORDER 3B (OMIM:266510)
Gene: PEX12
Phenotype: Primary adrenal insufficiency (HP:0008207)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX12
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: PEX12
Phenotype: Infantile onset (HP:0003593)
Associated disease: PEROXISOME BIOGENESIS DISORDER 3B (OMIM:266510)
Gene: PEX12
Phenotype: Abnormality of neuronal migration (HP:0002269)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX12
Phenotype: Congenital onset (HP:0003577)
Associated disease: PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER) (OMIM:614859)
Gene: PEX12
Phenotype: Congenital onset (HP:0003577)
Associated disease: PEROXISOME BIOGENESIS DISORDER 3B (OMIM:266510)
Gene: PEX12
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Infantile Refsum disease; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder; IRD; Mild PBD-ZSD (ORPHA:772)
Gene: PEX12
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER) (OMIM:614859)
Gene: PEX12
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX12
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: PEROXISOME BIOGENESIS DISORDER 3B (OMIM:266510)
Gene: PEX12
Phenotype: Elevated CSF guanidinoacetic acid concentration (HP:6000396)
Associated disease: PEROXISOME BIOGENESIS DISORDER 3B (OMIM:266510)
Gene: PEX12
Phenotype: Elevated urine trihydroxycholestanoic acid level (HP:6000393)
Associated disease: PEROXISOME BIOGENESIS DISORDER 3B (OMIM:266510)
Gene: PEX12
Phenotype: Epiphyseal stippling (HP:0010655)
Associated disease: PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER) (OMIM:614859)
Gene: PEX12
Phenotype: Epiphyseal stippling (HP:0010655)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX12
Phenotype: Facial palsy (HP:0010628)
Associated disease: Infantile Refsum disease; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder; IRD; Mild PBD-ZSD (ORPHA:772)
Gene: PEX12
Phenotype: Esodeviation (HP:0020045)
Associated disease: PEROXISOME BIOGENESIS DISORDER 3B (OMIM:266510)
Gene: PEX12
Phenotype: Developmental regression (HP:0002376)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX12
Phenotype: EEG abnormality (HP:0002353)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX12
Phenotype: EEG abnormality (HP:0002353)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX12
Phenotype: Brushfield spots (HP:0001088)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX12
Phenotype: Severe muscular hypotonia (HP:0006829)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX12
Phenotype: Nystagmus (HP:0000639)
Associated disease: Infantile Refsum disease; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder; IRD; Mild PBD-ZSD (ORPHA:772)
Gene: PEX12
Phenotype: Nystagmus (HP:0000639)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX12
Phenotype: Nystagmus (HP:0000639)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX12
Phenotype: Nystagmus (HP:0000639)
Associated disease: PEROXISOME BIOGENESIS DISORDER 3B (OMIM:266510)
Gene: PEX12
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Infantile Refsum disease; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder; IRD; Mild PBD-ZSD (ORPHA:772)
Gene: PEX12
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX12
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX12
Phenotype: Posterior embryotoxon (HP:0000627)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX12
Phenotype: Abnormality of coagulation (HP:0001928)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX12
Phenotype: Abnormality of metabolism/homeostasis (HP:0001939)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX12
Phenotype: Abnormal light-adapted flicker electroretinogram (HP:0030473)
Associated disease: PEROXISOME BIOGENESIS DISORDER 3B (OMIM:266510)
Gene: PEX12
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX12
Phenotype: Nyctalopia (HP:0000662)
Associated disease: Infantile Refsum disease; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder; IRD; Mild PBD-ZSD (ORPHA:772)
Gene: PEX12
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: PEROXISOME BIOGENESIS DISORDER 3B (OMIM:266510)
Gene: PEX12
Phenotype: Short stature (HP:0004322)
Associated disease: Infantile Refsum disease; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder; IRD; Mild PBD-ZSD (ORPHA:772)
Gene: PEX12
Phenotype: Short stature (HP:0004322)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX12
Phenotype: Short stature (HP:0004322)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX12
Phenotype: Profound global developmental delay (HP:0012736)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX12
Phenotype: Abnormality of movement (HP:0100022)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX12
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Infantile Refsum disease; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder; IRD; Mild PBD-ZSD (ORPHA:772)
Gene: PEX12
Phenotype: Hypocholesterolemia (HP:0003146)
Associated disease: PEROXISOME BIOGENESIS DISORDER 3B (OMIM:266510)
Gene: PEX12
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: PEROXISOME BIOGENESIS DISORDER 3B (OMIM:266510)
Gene: PEX12
Phenotype: Jaundice (HP:0000952)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX12
Phenotype: Osteoporosis (HP:0000939)
Associated disease: PEROXISOME BIOGENESIS DISORDER 3B (OMIM:266510)