TaoMedAI/RareMedData huggingface dataset:
Gene: PEX3
Phenotype: Seizure (HP:0001250)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX3
Phenotype: Seizure (HP:0001250)
Associated disease: PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER) (OMIM:614882)
Gene: PEX3
Phenotype: Seizure (HP:0001250)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX3
Phenotype: Hypotonia (HP:0001252)
Associated disease: Infantile Refsum disease; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder; IRD; Mild PBD-ZSD (ORPHA:772)
Gene: PEX3
Phenotype: Hypotonia (HP:0001252)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX3
Phenotype: Ataxia (HP:0001251)
Associated disease: Infantile Refsum disease; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder; IRD; Mild PBD-ZSD (ORPHA:772)
Gene: PEX3
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: PEX3
Phenotype: Global developmental delay (HP:0001263)
Associated disease: PEROXISOME BIOGENESIS DISORDER 10B (OMIM:617370)
Gene: PEX3
Phenotype: Spastic paraplegia (HP:0001258)
Associated disease: PEROXISOME BIOGENESIS DISORDER 10B (OMIM:617370)
Gene: PEX3
Phenotype: Spasticity (HP:0001257)
Associated disease: Infantile Refsum disease; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder; IRD; Mild PBD-ZSD (ORPHA:772)
Gene: PEX3
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: PEX3
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: PEX3
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: PEX3
Phenotype: Hypospadias (HP:0000047)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX3
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: PEROXISOME BIOGENESIS DISORDER 10B (OMIM:617370)
Gene: PEX3
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX3
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX3
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: PEX3
Phenotype: Neurogenic bladder (HP:0000011)
Associated disease: PEROXISOME BIOGENESIS DISORDER 10B (OMIM:617370)
Gene: PEX3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PEROXISOME BIOGENESIS DISORDER 10B (OMIM:617370)
Gene: PEX3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER) (OMIM:614882)
Gene: PEX3
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: PEX3
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: PEX3
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: PEX3
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: PEX3
Phenotype: Abnormal palate morphology (HP:0000174)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX3
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: PEROXISOME BIOGENESIS DISORDER 10B (OMIM:617370)
Gene: PEX3
Phenotype: Generalized neonatal hypotonia (HP:0008935)
Associated disease: PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER) (OMIM:614882)
Gene: PEX3
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: PEX3
Phenotype: Nephrocalcinosis (HP:0000121)
Associated disease: PEROXISOME BIOGENESIS DISORDER 10B (OMIM:617370)
Gene: PEX3
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX3
Phenotype: Malabsorption (HP:0002024)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX3
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: PEX3
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: PEX3
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: PEX3
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: PEX3
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: PEX3
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: PEX3
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: PEX3
Phenotype: Polymicrogyria (HP:0002126)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX3
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: PEX3
Phenotype: Primary adrenal insufficiency (HP:0008207)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX3
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: PEX3
Phenotype: Focal clonic seizure (HP:0002266)
Associated disease: PEROXISOME BIOGENESIS DISORDER 10B (OMIM:617370)
Gene: PEX3
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: PEX3
Phenotype: Congenital onset (HP:0003577)
Associated disease: PEROXISOME BIOGENESIS DISORDER 10B (OMIM:617370)
Gene: PEX3
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Infantile Refsum disease; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder; IRD; Mild PBD-ZSD (ORPHA:772)
Gene: PEX3
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER) (OMIM:614882)
Gene: PEX3
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX3
Phenotype: Epiphyseal stippling (HP:0010655)
Associated disease: PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER) (OMIM:614882)
Gene: PEX3
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: PEX3
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER) (OMIM:614882)
Gene: PEX3
Phenotype: Facial palsy (HP:0010628)
Associated disease: Infantile Refsum disease; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder; IRD; Mild PBD-ZSD (ORPHA:772)
Gene: PEX3
Phenotype: Developmental regression (HP:0002376)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX3
Phenotype: EEG abnormality (HP:0002353)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX3
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: PEX3
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: PEX3
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: PEX3
Phenotype: Nystagmus (HP:0000639)
Associated disease: Infantile Refsum disease; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder; IRD; Mild PBD-ZSD (ORPHA:772)
Gene: PEX3
Phenotype: Nystagmus (HP:0000639)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX3
Phenotype: Nystagmus (HP:0000639)
Associated disease: PEROXISOME BIOGENESIS DISORDER 10B (OMIM:617370)
Gene: PEX3
Phenotype: Nystagmus (HP:0000639)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX3
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Infantile Refsum disease; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder; IRD; Mild PBD-ZSD (ORPHA:772)
Gene: PEX3
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX3
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: PEX3
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: PEX3
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: PEX3
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: PEX3
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: PEX3
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER) (OMIM:614882)
Gene: PEX3
Phenotype: Nyctalopia (HP:0000662)
Associated disease: Infantile Refsum disease; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder; IRD; Mild PBD-ZSD (ORPHA:772)
Gene: PEX3
Phenotype: Short stature (HP:0004322)
Associated disease: Infantile Refsum disease; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder; IRD; Mild PBD-ZSD (ORPHA:772)
Gene: PEX3
Phenotype: Short stature (HP:0004322)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX3
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: PEX3
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: PEX3
Phenotype: Abnormality of movement (HP:0100022)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX3
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Infantile Refsum disease; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder; IRD; Mild PBD-ZSD (ORPHA:772)
Gene: PEX3
Phenotype: Inverted nipples (HP:0003186)
Associated disease: PEROXISOME BIOGENESIS DISORDER 10B (OMIM:617370)
Gene: PEX3
Phenotype: Jaundice (HP:0000952)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX3
Phenotype: Ichthyosis (HP:0008064)
Associated disease: Infantile Refsum disease; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder; IRD; Mild PBD-ZSD (ORPHA:772)
Gene: PEX3
Phenotype: Arrhythmia (HP:0011675)
Associated disease: Infantile Refsum disease; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder; IRD; Mild PBD-ZSD (ORPHA:772)
Gene: PEX3
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX3
Phenotype: Epicanthus (HP:0000286)
Associated disease: PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER) (OMIM:614882)
Gene: PEX3
Phenotype: Epicanthus (HP:0000286)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX3
Phenotype: Wide anterior fontanel (HP:0000260)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX3
Phenotype: Wide anterior fontanel (HP:0000260)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX3
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX3
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX3
Phenotype: Abnormality of the face (HP:0000271)
Associated disease: Infantile Refsum disease; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder; IRD; Mild PBD-ZSD (ORPHA:772)
Gene: PEX3
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX3
Phenotype: Microcephaly (HP:0000252)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX3
Phenotype: High palate (HP:0000218)
Associated disease: PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER) (OMIM:614882)
Gene: PEX3
Phenotype: High palate (HP:0000218)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX3
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER) (OMIM:614882)
Gene: PEX3
Phenotype: Death in infancy (HP:0001522)
Associated disease: PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER) (OMIM:614882)
Gene: PEX3
Phenotype: Death in infancy (HP:0001522)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX3
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Infantile Refsum disease; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder; IRD; Mild PBD-ZSD (ORPHA:772)
Gene: PEX3
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX3
Phenotype: Appendicular hypotonia (HP:0012389)
Associated disease: PEROXISOME BIOGENESIS DISORDER 10B (OMIM:617370)
Gene: PEX3
Phenotype: Flat face (HP:0012368)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX3
Phenotype: Abnormal pinna morphology (HP:0000377)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX3
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Infantile Refsum disease; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder; IRD; Mild PBD-ZSD (ORPHA:772)
Gene: PEX3
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: PEROXISOME BIOGENESIS DISORDER 10B (OMIM:617370)
Gene: PEX3
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX3
Phenotype: Low-set ears (HP:0000369)
Associated disease: PEROXISOME BIOGENESIS DISORDER 10B (OMIM:617370)
Gene: PEX3
Phenotype: Broad forehead (HP:0000337)
Associated disease: PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER) (OMIM:614882)
Gene: PEX3
Phenotype: High forehead (HP:0000348)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX3
Phenotype: High forehead (HP:0000348)
Associated disease: PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER) (OMIM:614882)
Gene: PEX3
Phenotype: High forehead (HP:0000348)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX3
Phenotype: High forehead (HP:0000348)
Associated disease: PEROXISOME BIOGENESIS DISORDER 10B (OMIM:617370)
Gene: PEX3
Phenotype: Micrognathia (HP:0000347)
Associated disease: PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER) (OMIM:614882)
Gene: PEX3
Phenotype: Micrognathia (HP:0000347)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX3
Phenotype: Hypertelorism (HP:0000316)
Associated disease: PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER) (OMIM:614882)
Gene: PEX3
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX3
Phenotype: Premature birth (HP:0001622)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX3
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: Infantile Refsum disease; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder; IRD; Mild PBD-ZSD (ORPHA:772)
Gene: PEX3
Phenotype: Corneal opacity (HP:0007957)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX3
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: PEX3
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX3
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: PEX3
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: PEX3
Phenotype: Strabismus (HP:0000486)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX3
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER) (OMIM:614882)
Gene: PEX3
Phenotype: Anteverted nares (HP:0000463)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX3
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: PEX3
Phenotype: Prominent nose (HP:0000448)
Associated disease: PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER) (OMIM:614882)