TaoMedAI/RareMedData huggingface dataset:
Gene: RECQL4
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RECQL4
Phenotype: Abnormal ulnar metaphysis morphology (HP:0004039)
Associated disease: Poikiloderma of Rothmund-Thomson type 2; RTS2; Rothmund-Thomson syndrome type 2 (ORPHA:221016)
Gene: RECQL4
Phenotype: Annular pancreas (HP:0001734)
Associated disease: ROTHMUND-THOMSON SYNDROME, TYPE 2 (OMIM:268400)
Gene: RECQL4
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: BALLER-GEROLD SYNDROME (OMIM:218600)
Gene: RECQL4
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Baller-Gerold syndrome (ORPHA:1225)
Gene: RECQL4
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: ROTHMUND-THOMSON SYNDROME, TYPE 2 (OMIM:268400)
Gene: RECQL4
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RECQL4
Phenotype: Astigmatism (HP:0000483)
Associated disease: BALLER-GEROLD SYNDROME (OMIM:218600)
Gene: RECQL4
Phenotype: Strabismus (HP:0000486)
Associated disease: BALLER-GEROLD SYNDROME (OMIM:218600)
Gene: RECQL4
Phenotype: Strabismus (HP:0000486)
Associated disease: ROTHMUND-THOMSON SYNDROME, TYPE 2 (OMIM:268400)
Gene: RECQL4
Phenotype: Microcornea (HP:0000482)
Associated disease: ROTHMUND-THOMSON SYNDROME, TYPE 2 (OMIM:268400)
Gene: RECQL4
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: BALLER-GEROLD SYNDROME (OMIM:218600)
Gene: RECQL4
Phenotype: Concave nasal ridge (HP:0011120)
Associated disease: BALLER-GEROLD SYNDROME (OMIM:218600)
Gene: RECQL4
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RECQL4
Phenotype: Short foot (HP:0001773)
Associated disease: ROTHMUND-THOMSON SYNDROME, TYPE 2 (OMIM:268400)
Gene: RECQL4
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RECQL4
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RECQL4
Phenotype: Choanal stenosis (HP:0000452)
Associated disease: BALLER-GEROLD SYNDROME (OMIM:218600)
Gene: RECQL4
Phenotype: Narrow nasal bridge (HP:0000446)
Associated disease: Baller-Gerold syndrome (ORPHA:1225)
Gene: RECQL4
Phenotype: Slender nose (HP:0000417)
Associated disease: Poikiloderma of Rothmund-Thomson type 2; RTS2; Rothmund-Thomson syndrome type 2 (ORPHA:221016)
Gene: RECQL4
Phenotype: Slender nose (HP:0000417)
Associated disease: RAPADILINO syndrome (ORPHA:3021)
Gene: RECQL4
Phenotype: Slender nose (HP:0000417)
Associated disease: RAPADILINO SYNDROME (OMIM:266280)
Gene: RECQL4
Phenotype: Mixed hearing impairment (HP:0000410)
Associated disease: BALLER-GEROLD SYNDROME (OMIM:218600)
Gene: RECQL4
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: ROTHMUND-THOMSON SYNDROME, TYPE 2 (OMIM:268400)
Gene: RECQL4
Phenotype: Underdeveloped nasal alae (HP:0000430)
Associated disease: BALLER-GEROLD SYNDROME (OMIM:218600)
Gene: RECQL4
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: BALLER-GEROLD SYNDROME (OMIM:218600)
Gene: RECQL4
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: Baller-Gerold syndrome (ORPHA:1225)
Gene: RECQL4
Phenotype: Decreased total T cell count (HP:0005403)
Associated disease: RAPADILINO syndrome (ORPHA:3021)
Gene: RECQL4
Phenotype: Cataract (HP:0000518)
Associated disease: ROTHMUND-THOMSON SYNDROME, TYPE 2 (OMIM:268400)
Gene: RECQL4
Phenotype: Developmental cataract (HP:0000519)
Associated disease: Poikiloderma of Rothmund-Thomson type 2; RTS2; Rothmund-Thomson syndrome type 2 (ORPHA:221016)
Gene: RECQL4
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RECQL4
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RECQL4
Phenotype: Proptosis (HP:0000520)
Associated disease: Baller-Gerold syndrome (ORPHA:1225)
Gene: RECQL4
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RECQL4
Phenotype: Glaucoma (HP:0000501)
Associated disease: ROTHMUND-THOMSON SYNDROME, TYPE 2 (OMIM:268400)
Gene: RECQL4
Phenotype: Blepharophimosis (HP:0000581)
Associated disease: RAPADILINO SYNDROME (OMIM:266280)
Gene: RECQL4
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RECQL4
Phenotype: Absent eyelashes (HP:0000561)
Associated disease: ROTHMUND-THOMSON SYNDROME, TYPE 2 (OMIM:268400)
Gene: RECQL4
Phenotype: Prominent forehead (HP:0011220)
Associated disease: BALLER-GEROLD SYNDROME (OMIM:218600)
Gene: RECQL4
Phenotype: Microphthalmia (HP:0000568)
Associated disease: ROTHMUND-THOMSON SYNDROME, TYPE 2 (OMIM:268400)
Gene: RECQL4
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RECQL4
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RECQL4
Phenotype: Myopia (HP:0000545)
Associated disease: BALLER-GEROLD SYNDROME (OMIM:218600)
Gene: RECQL4
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: Poikiloderma of Rothmund-Thomson type 2; RTS2; Rothmund-Thomson syndrome type 2 (ORPHA:221016)
Gene: PEX16
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: PEX16
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: PEX16
Phenotype: Leukodystrophy (HP:0002415)
Associated disease: PEROXISOME BIOGENESIS DISORDER 8B (OMIM:614877)
Gene: PEX16
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: PEROXISOME BIOGENESIS DISORDER 8A (ZELLWEGER) (OMIM:614876)
Gene: PEX16
Phenotype: Hypertonia (HP:0001276)
Associated disease: PEROXISOME BIOGENESIS DISORDER 8B (OMIM:614877)
Gene: PEX16
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: PEROXISOME BIOGENESIS DISORDER 8B (OMIM:614877)
Gene: PEX16
Phenotype: Seizure (HP:0001250)
Associated disease: Infantile Refsum disease; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder; IRD; Mild PBD-ZSD (ORPHA:772)
Gene: PEX16
Phenotype: Seizure (HP:0001250)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX16
Phenotype: Seizure (HP:0001250)
Associated disease: PEROXISOME BIOGENESIS DISORDER 8A (ZELLWEGER) (OMIM:614876)
Gene: PEX16
Phenotype: Seizure (HP:0001250)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX16
Phenotype: Hypotonia (HP:0001252)
Associated disease: Infantile Refsum disease; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder; IRD; Mild PBD-ZSD (ORPHA:772)
Gene: PEX16
Phenotype: Hypotonia (HP:0001252)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX16
Phenotype: Ataxia (HP:0001251)
Associated disease: Infantile Refsum disease; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder; IRD; Mild PBD-ZSD (ORPHA:772)
Gene: PEX16
Phenotype: Ataxia (HP:0001251)
Associated disease: PEROXISOME BIOGENESIS DISORDER 8B (OMIM:614877)
Gene: PEX16
Phenotype: Intellectual disability (HP:0001249)
Associated disease: PEROXISOME BIOGENESIS DISORDER 8B (OMIM:614877)
Gene: PEX16
Phenotype: Dysarthria (HP:0001260)
Associated disease: PEROXISOME BIOGENESIS DISORDER 8B (OMIM:614877)
Gene: PEX16
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: PEX16
Phenotype: Global developmental delay (HP:0001263)
Associated disease: PEROXISOME BIOGENESIS DISORDER 8B (OMIM:614877)
Gene: PEX16
Phenotype: Spasticity (HP:0001257)
Associated disease: Infantile Refsum disease; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder; IRD; Mild PBD-ZSD (ORPHA:772)
Gene: PEX16
Phenotype: Spasticity (HP:0001257)
Associated disease: PEROXISOME BIOGENESIS DISORDER 8B (OMIM:614877)
Gene: PEX16
Phenotype: Corpus callosum atrophy (HP:0007371)
Associated disease: PEROXISOME BIOGENESIS DISORDER 8B (OMIM:614877)
Gene: PEX16
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: PEX16
Phenotype: Loss of ambulation (HP:0002505)
Associated disease: PEROXISOME BIOGENESIS DISORDER 8B (OMIM:614877)
Gene: PEX16
Phenotype: Abnormal cerebral white matter morphology (HP:0002500)
Associated disease: PEROXISOME BIOGENESIS DISORDER 8B (OMIM:614877)
Gene: PEX16
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: PEX16
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: PEX16
Phenotype: Hypospadias (HP:0000047)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX16
Phenotype: Brisk reflexes (HP:0001348)
Associated disease: PEROXISOME BIOGENESIS DISORDER 8B (OMIM:614877)
Gene: PEX16
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX16
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX16
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: PEROXISOME BIOGENESIS DISORDER 8A (ZELLWEGER) (OMIM:614876)
Gene: PEX16
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: PEX16
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PEROXISOME BIOGENESIS DISORDER 8B (OMIM:614877)
Gene: PEX16
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PEROXISOME BIOGENESIS DISORDER 8A (ZELLWEGER) (OMIM:614876)
Gene: PEX16
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: PEX16
Phenotype: Dysmetria (HP:0001310)
Associated disease: PEROXISOME BIOGENESIS DISORDER 8B (OMIM:614877)
Gene: PEX16
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: PEX16
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: PEROXISOME BIOGENESIS DISORDER 8B (OMIM:614877)
Gene: PEX16
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: PEX16
Phenotype: Glossoptosis (HP:0000162)
Associated disease: PEROXISOME BIOGENESIS DISORDER 8A (ZELLWEGER) (OMIM:614876)
Gene: PEX16
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: PEX16
Phenotype: Abnormal palate morphology (HP:0000174)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX16
Phenotype: Generalized neonatal hypotonia (HP:0008935)
Associated disease: PEROXISOME BIOGENESIS DISORDER 8A (ZELLWEGER) (OMIM:614876)
Gene: PEX16
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: PEX16
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX16
Phenotype: Decreased liver function (HP:0001410)
Associated disease: PEROXISOME BIOGENESIS DISORDER 8B (OMIM:614877)
Gene: PEX16
Phenotype: Malabsorption (HP:0002024)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX16
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: PEX16
Phenotype: Constipation (HP:0002019)
Associated disease: PEROXISOME BIOGENESIS DISORDER 8B (OMIM:614877)
Gene: PEX16
Phenotype: Dysphagia (HP:0002015)
Associated disease: PEROXISOME BIOGENESIS DISORDER 8B (OMIM:614877)
Gene: PEX16
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: PEX16
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: PEX16
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: PEX16
Phenotype: Gait ataxia (HP:0002066)
Associated disease: PEROXISOME BIOGENESIS DISORDER 8B (OMIM:614877)
Gene: PEX16
Phenotype: Rigidity (HP:0002063)
Associated disease: PEROXISOME BIOGENESIS DISORDER 8B (OMIM:614877)
Gene: PEX16
Phenotype: Lower limb spasticity (HP:0002061)
Associated disease: PEROXISOME BIOGENESIS DISORDER 8B (OMIM:614877)
Gene: PEX16
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: PEX16
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: PEX16
Phenotype: Very long chain fatty acid accumulation (HP:0008167)
Associated disease: PEROXISOME BIOGENESIS DISORDER 8B (OMIM:614877)
Gene: PEX16
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: PEX16
Phenotype: Babinski sign (HP:0003487)
Associated disease: PEROXISOME BIOGENESIS DISORDER 8B (OMIM:614877)
Gene: PEX16
Phenotype: Polymicrogyria (HP:0002126)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX16
Phenotype: Clonus (HP:0002169)
Associated disease: PEROXISOME BIOGENESIS DISORDER 8B (OMIM:614877)
Gene: PEX16
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: PEX16
Phenotype: Elevated circulating phytanic acid concentration (HP:0010571)
Associated disease: PEROXISOME BIOGENESIS DISORDER 8B (OMIM:614877)
Gene: PEX16
Phenotype: Primary adrenal insufficiency (HP:0008207)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX16
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: PEX16
Phenotype: Infantile onset (HP:0003593)
Associated disease: PEROXISOME BIOGENESIS DISORDER 8B (OMIM:614877)
Gene: PEX16
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: PEX16
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Infantile Refsum disease; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder; IRD; Mild PBD-ZSD (ORPHA:772)
Gene: PEX16
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: PEROXISOME BIOGENESIS DISORDER 8A (ZELLWEGER) (OMIM:614876)
Gene: PEX16
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX16
Phenotype: Limb tremor (HP:0200085)
Associated disease: PEROXISOME BIOGENESIS DISORDER 8B (OMIM:614877)
Gene: PEX16
Phenotype: Epiphyseal stippling (HP:0010655)
Associated disease: PEROXISOME BIOGENESIS DISORDER 8A (ZELLWEGER) (OMIM:614876)
Gene: PEX16
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: PEX16
Phenotype: Facial palsy (HP:0010628)
Associated disease: Infantile Refsum disease; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder; IRD; Mild PBD-ZSD (ORPHA:772)
Gene: PEX16
Phenotype: Frequent falls (HP:0002359)
Associated disease: PEROXISOME BIOGENESIS DISORDER 8B (OMIM:614877)
Gene: PEX16
Phenotype: Developmental regression (HP:0002376)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX16
Phenotype: Progressive (HP:0003676)
Associated disease: PEROXISOME BIOGENESIS DISORDER 8B (OMIM:614877)
Gene: PEX16
Phenotype: EEG abnormality (HP:0002353)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX16
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: PEX16
Phenotype: Unsteady gait (HP:0002317)
Associated disease: PEROXISOME BIOGENESIS DISORDER 8B (OMIM:614877)
Gene: PEX16
Phenotype: Spastic paraparesis (HP:0002313)
Associated disease: PEROXISOME BIOGENESIS DISORDER 8B (OMIM:614877)
Gene: PEX16
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: PEROXISOME BIOGENESIS DISORDER 8B (OMIM:614877)
Gene: PEX16
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: PEX16
Phenotype: Cerebellar vermis atrophy (HP:0006855)
Associated disease: PEROXISOME BIOGENESIS DISORDER 8B (OMIM:614877)
Gene: PEX16
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: PEX16
Phenotype: Nystagmus (HP:0000639)
Associated disease: Infantile Refsum disease; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder; IRD; Mild PBD-ZSD (ORPHA:772)
Gene: PEX16
Phenotype: Nystagmus (HP:0000639)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX16
Phenotype: Nystagmus (HP:0000639)
Associated disease: PEROXISOME BIOGENESIS DISORDER 8B (OMIM:614877)
Gene: PEX16
Phenotype: Nystagmus (HP:0000639)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX16
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Infantile Refsum disease; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder; IRD; Mild PBD-ZSD (ORPHA:772)
Gene: PEX16
Phenotype: Optic atrophy (HP:0000648)
Associated disease: PEROXISOME BIOGENESIS DISORDER 8B (OMIM:614877)
Gene: PEX16
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX16
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: PEX16
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: PEX16
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: PEX16
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: PEX16
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: PEROXISOME BIOGENESIS DISORDER 8A (ZELLWEGER) (OMIM:614876)
Gene: PEX16
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: PEX16
Phenotype: Nyctalopia (HP:0000662)
Associated disease: Infantile Refsum disease; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder; IRD; Mild PBD-ZSD (ORPHA:772)
Gene: PEX16
Phenotype: Horizontal nystagmus (HP:0000666)
Associated disease: PEROXISOME BIOGENESIS DISORDER 8B (OMIM:614877)
Gene: PEX16
Phenotype: Short stature (HP:0004322)
Associated disease: Infantile Refsum disease; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder; IRD; Mild PBD-ZSD (ORPHA:772)
Gene: PEX16
Phenotype: Short stature (HP:0004322)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX16
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: PEX16
Phenotype: Elevated circulating aspartate aminotransferase concentration (HP:0031956)
Associated disease: PEROXISOME BIOGENESIS DISORDER 8A (ZELLWEGER) (OMIM:614876)
Gene: PEX16
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)