TaoMedAI/RareMedData huggingface dataset:
Gene: PEX6
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Infantile Refsum disease; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder; IRD; Mild PBD-ZSD (ORPHA:772)
Gene: PEX6
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER) (OMIM:614862)
Gene: PEX6
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: PEROXISOME BIOGENESIS DISORDER 4B (OMIM:614863)
Gene: PEX6
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX6
Phenotype: Epiphyseal stippling (HP:0010655)
Associated disease: PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER) (OMIM:614862)
Gene: PEX6
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: PEX6
Phenotype: Facial palsy (HP:0010628)
Associated disease: Infantile Refsum disease; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder; IRD; Mild PBD-ZSD (ORPHA:772)
Gene: PEX6
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PEX6
Phenotype: Abnormal toenail morphology (HP:0008388)
Associated disease: Deafness-enamel hypoplasia-nail defects syndrome; Heimler syndrome; Hearing loss-enamel hypoplasia-nail defects syndrome (ORPHA:3220)
Gene: PEX6
Phenotype: Developmental regression (HP:0002376)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX6
Phenotype: EEG abnormality (HP:0002353)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX6
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: PEX6
Phenotype: Head tremor (HP:0002346)
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: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PEX6
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PEX6
Phenotype: Abnormality of nail color (HP:0100643)
Associated disease: Deafness-enamel hypoplasia-nail defects syndrome; Heimler syndrome; Hearing loss-enamel hypoplasia-nail defects syndrome (ORPHA:3220)
Gene: PEX6
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: Deafness-enamel hypoplasia-nail defects syndrome; Heimler syndrome; Hearing loss-enamel hypoplasia-nail defects syndrome (ORPHA:3220)
Gene: PEX6
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PEX6
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: PEX6
Phenotype: Sensorimotor neuropathy (HP:0007141)
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: Proximal amyotrophy (HP:0007126)
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: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PEX6
Phenotype: Neonatal onset (HP:0003623)
Associated disease: PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER) (OMIM:614862)
Gene: PEX6
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PEX6
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PEX6
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PEX6
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: PEX6
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PEX6
Phenotype: Nystagmus (HP:0000639)
Associated disease: Infantile Refsum disease; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder; IRD; Mild PBD-ZSD (ORPHA:772)
Gene: PEX6
Phenotype: Nystagmus (HP:0000639)
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: Nystagmus (HP:0000639)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX6
Phenotype: Nystagmus (HP:0000639)
Associated disease: PEROXISOME BIOGENESIS DISORDER 4B (OMIM:614863)
Gene: PEX6
Phenotype: Nystagmus (HP:0000639)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX6
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PEX6
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PEX6
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Infantile Refsum disease; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder; IRD; Mild PBD-ZSD (ORPHA:772)
Gene: PEX6
Phenotype: Optic atrophy (HP:0000648)
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: Optic atrophy (HP:0000648)
Associated disease: PEROXISOME BIOGENESIS DISORDER 4B (OMIM:614863)
Gene: PEX6
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX6
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: PEX6
Phenotype: Blindness (HP:0000618)
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: Abnormal nasolacrimal system morphology (HP:0000614)
Associated disease: Deafness-enamel hypoplasia-nail defects syndrome; Heimler syndrome; Hearing loss-enamel hypoplasia-nail defects syndrome (ORPHA:3220)
Gene: PEX6
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: PEX6
Phenotype: Recurrent fever (HP:0001954)
Associated disease: PEROXISOME BIOGENESIS DISORDER 4B (OMIM:614863)
Gene: PEX6
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PEX6
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: PEX6
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: PEX6
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PEX6
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PEX6
Phenotype: Abnormal hair quantity (HP:0011362)
Associated disease: Deafness-enamel hypoplasia-nail defects syndrome; Heimler syndrome; Hearing loss-enamel hypoplasia-nail defects syndrome (ORPHA:3220)
Gene: PEX6
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: PEX6
Phenotype: Abnormal dental enamel morphology (HP:0000682)
Associated disease: Deafness-enamel hypoplasia-nail defects syndrome; Heimler syndrome; Hearing loss-enamel hypoplasia-nail defects syndrome (ORPHA:3220)
Gene: PEX6
Phenotype: Taurodontia (HP:0000679)
Associated disease: Deafness-enamel hypoplasia-nail defects syndrome; Heimler syndrome; Hearing loss-enamel hypoplasia-nail defects syndrome (ORPHA:3220)
Gene: PEX6
Phenotype: Dental crowding (HP:0000678)
Associated disease: HEIMLER SYNDROME 2 (OMIM:616617)
Gene: PEX6
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PEX6
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PEX6
Phenotype: Nyctalopia (HP:0000662)
Associated disease: Infantile Refsum disease; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder; IRD; Mild PBD-ZSD (ORPHA:772)
Gene: PEX6
Phenotype: Oculomotor apraxia (HP:0000657)
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: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PEX6
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PEX6
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PEX6
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PEX6
Phenotype: Short stature (HP:0004322)
Associated disease: Infantile Refsum disease; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder; IRD; Mild PBD-ZSD (ORPHA:772)
Gene: PEX6
Phenotype: Short stature (HP:0004322)
Associated disease: Deafness-enamel hypoplasia-nail defects syndrome; Heimler syndrome; Hearing loss-enamel hypoplasia-nail defects syndrome (ORPHA:3220)
Gene: PEX6
Phenotype: Short stature (HP:0004322)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX6
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: PEX6
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PEX6
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PEX6
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PEX6
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PEX6
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PEX6
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PEX6
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: PEX6
Phenotype: Abnormality of movement (HP:0100022)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX6
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PEX6
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PEX6
Phenotype: Sensory neuropathy (HP:0000763)
Associated disease: Deafness-enamel hypoplasia-nail defects syndrome; Heimler syndrome; Hearing loss-enamel hypoplasia-nail defects syndrome (ORPHA:3220)
Gene: PEX6
Phenotype: Sensory neuropathy (HP:0000763)
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: Decreased nerve conduction velocity (HP:0000762)
Associated disease: PEROXISOME BIOGENESIS DISORDER 4B (OMIM:614863)
Gene: PEX6
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PEX6
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PEX6
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Infantile Refsum disease; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder; IRD; Mild PBD-ZSD (ORPHA:772)
Gene: PEX6
Phenotype: Amelogenesis imperfecta (HP:0000705)
Associated disease: HEIMLER SYNDROME 2 (OMIM:616617)
Gene: PEX6
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PEX6
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PEX6
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PEX6
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PEX6
Phenotype: Primary amenorrhea (HP:0000786)
Associated disease: Deafness-enamel hypoplasia-nail defects syndrome; Heimler syndrome; Hearing loss-enamel hypoplasia-nail defects syndrome (ORPHA:3220)
Gene: PEX6
Phenotype: Short nose (HP:0003196)
Associated disease: PEROXISOME BIOGENESIS DISORDER 4B (OMIM:614863)
Gene: PEX6
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PEX6
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PEX6
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PEX6
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PEX6
Phenotype: Adrenal insufficiency (HP:0000846)
Associated disease: PEROXISOME BIOGENESIS DISORDER 4B (OMIM:614863)
Gene: PEX6
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: Deafness-enamel hypoplasia-nail defects syndrome; Heimler syndrome; Hearing loss-enamel hypoplasia-nail defects syndrome (ORPHA:3220)
Gene: PEX6
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PEX6
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PEX6
Phenotype: External genital hypoplasia (HP:0003241)
Associated disease: Deafness-enamel hypoplasia-nail defects syndrome; Heimler syndrome; Hearing loss-enamel hypoplasia-nail defects syndrome (ORPHA:3220)
Gene: PEX6
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PEX6
Phenotype: Thin eyebrow (HP:0045074)
Associated disease: Deafness-enamel hypoplasia-nail defects syndrome; Heimler syndrome; Hearing loss-enamel hypoplasia-nail defects syndrome (ORPHA:3220)
Gene: PEX6
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: PEROXISOME BIOGENESIS DISORDER 4B (OMIM:614863)
Gene: PEX6
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PEX6
Phenotype: Acanthosis nigricans (HP:0000956)
Associated disease: Deafness-enamel hypoplasia-nail defects syndrome; Heimler syndrome; Hearing loss-enamel hypoplasia-nail defects syndrome (ORPHA:3220)
Gene: PEX6
Phenotype: Jaundice (HP:0000952)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX6
Phenotype: Ichthyosis (HP:0008064)
Associated disease: Deafness-enamel hypoplasia-nail defects syndrome; Heimler syndrome; Hearing loss-enamel hypoplasia-nail defects syndrome (ORPHA:3220)
Gene: PEX6
Phenotype: Ichthyosis (HP:0008064)
Associated disease: Infantile Refsum disease; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder; IRD; Mild PBD-ZSD (ORPHA:772)
Gene: PEX6
Phenotype: Arrhythmia (HP:0011675)
Associated disease: Deafness-enamel hypoplasia-nail defects syndrome; Heimler syndrome; Hearing loss-enamel hypoplasia-nail defects syndrome (ORPHA:3220)
Gene: PEX6
Phenotype: Arrhythmia (HP:0011675)
Associated disease: Infantile Refsum disease; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder; IRD; Mild PBD-ZSD (ORPHA:772)
Gene: PEX6
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: PEX6
Phenotype: Epicanthus (HP:0000286)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX6
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PEX6
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PEX6
Phenotype: Wide anterior fontanel (HP:0000260)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX6
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: PEX6
Phenotype: Macrocephaly (HP:0000256)
Associated disease: PEROXISOME BIOGENESIS DISORDER 4B (OMIM:614863)
Gene: PEX6
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX6
Phenotype: Macrocephaly (HP:0000256)
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 face (HP:0000271)
Associated disease: Infantile Refsum disease; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder; IRD; Mild PBD-ZSD (ORPHA:772)
Gene: PEX6
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Gene: PEX6
Phenotype: Cochlear degeneration (HP:0005102)
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: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PEX6
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PEX6
Phenotype: Microcephaly (HP:0000252)
Associated disease: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; ZS (ORPHA:912)
Gene: PEX6
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PEX6
Phenotype: Respiratory failure (HP:0002878)
Associated disease: PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER) (OMIM:614862)
Gene: PEX6
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: PEX6
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PEX6
Phenotype: Death in infancy (HP:0001522)
Associated disease: PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER) (OMIM:614862)
Gene: PEX6
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: PEX6
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PEX6
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: PEX6
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: PEX6
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PEX6
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PEX6
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PEX6
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PEX6
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: PEX6
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: PEX6
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PEX6
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Infantile Refsum disease; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder; IRD; Mild PBD-ZSD (ORPHA:772)
Gene: PEX6
Phenotype: Hearing impairment (HP:0000365)
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: Hearing impairment (HP:0000365)
Associated disease: Deafness-enamel hypoplasia-nail defects syndrome; Heimler syndrome; Hearing loss-enamel hypoplasia-nail defects syndrome (ORPHA:3220)
Gene: PEX6
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PEX6
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: Intermediate PBD-ZSD; Neonatal adrenoleukodystrophy; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)